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Sample records for accurate clinical diagnosis

  1. ACE-I Angioedema: Accurate Clinical Diagnosis May Prevent Epinephrine-Induced Harm

    PubMed Central

    Curtis, R. Mason; Felder, Sarah; Borici-Mazi, Rozita; Ball, Ian

    2016-01-01

    Introduction Upper airway angioedema is a life-threatening emergency department (ED) presentation with increasing incidence. Angiotensin-converting enzyme inhibitor induced angioedema (AAE) is a non-mast cell mediated etiology of angioedema. Accurate diagnosis by clinical examination can optimize patient management and reduce morbidity from inappropriate treatment with epinephrine. The aim of this study is to describe the incidence of angioedema subtypes and the management of AAE. We evaluate the appropriateness of treatments and highlight preventable iatrogenic morbidity. Methods We conducted a retrospective chart review of consecutive angioedema patients presenting to two tertiary care EDs between July 2007 and March 2012. Results Of 1,702 medical records screened, 527 were included. The cause of angioedema was identified in 48.8% (n=257) of cases. The most common identifiable etiology was AAE (33.1%, n=85), with a 60.0% male predominance. The most common AAE management strategies included diphenhydramine (63.5%, n=54), corticosteroids (50.6%, n=43) and ranitidine (31.8%, n=27). Epinephrine was administered in 21.2% (n=18) of AAE patients, five of whom received repeated doses. Four AAE patients required admission (4.7%) and one required endotracheal intubation. Epinephrine induced morbidity in two patients, causing myocardial ischemia or dysrhythmia shortly after administration. Conclusion AAE is the most common identifiable etiology of angioedema and can be accurately diagnosed by physical examination. It is easily confused with anaphylaxis and mismanaged with antihistamines, corticosteroids and epinephrine. There is little physiologic rationale for epinephrine use in AAE and much risk. Improved clinical differentiation of mast cell and non-mast cell mediated angioedema can optimize patient management. PMID:27330660

  2. A novel 33-Gene targeted resequencing panel provides accurate, clinical-grade diagnosis and improves patient management for rare inherited anaemias.

    PubMed

    Roy, Noémi B A; Wilson, Edward A; Henderson, Shirley; Wray, Katherine; Babbs, Christian; Okoli, Steven; Atoyebi, Wale; Mixon, Avery; Cahill, Mary R; Carey, Peter; Cullis, Jonathan; Curtin, Julie; Dreau, Helene; Ferguson, David J P; Gibson, Brenda; Hall, Georgina; Mason, Joanne; Morgan, Mary; Proven, Melanie; Qureshi, Amrana; Sanchez Garcia, Joaquin; Sirachainan, Nongnuch; Teo, Juliana; Tedgård, Ulf; Higgs, Doug; Roberts, David; Roberts, Irene; Schuh, Anna

    2016-10-01

    Accurate diagnosis of rare inherited anaemias is challenging, requiring a series of complex and expensive laboratory tests. Targeted next-generation-sequencing (NGS) has been used to investigate these disorders, but the selection of genes on individual panels has been narrow and the validation strategies used have fallen short of the standards required for clinical use. Clinical-grade validation of negative results requires the test to distinguish between lack of adequate sequencing reads at the locations of known mutations and a real absence of mutations. To achieve a clinically-reliable diagnostic test and minimize false-negative results we developed an open-source tool (CoverMi) to accurately determine base-coverage and the 'discoverability' of known mutations for every sample. We validated our 33-gene panel using Sanger sequencing and microarray. Our panel demonstrated 100% specificity and 99·7% sensitivity. We then analysed 57 clinical samples: molecular diagnoses were made in 22/57 (38·6%), corresponding to 32 mutations of which 16 were new. In all cases, accurate molecular diagnosis had a positive impact on clinical management. Using a validated NGS-based platform for routine molecular diagnosis of previously undiagnosed congenital anaemias is feasible in a clinical diagnostic setting, improves precise diagnosis and enhances management and counselling of the patient and their family.

  3. The status of and future research into Myalgic Encephalomyelitis and Chronic Fatigue Syndrome: the need of accurate diagnosis, objective assessment, and acknowledging biological and clinical subgroups

    PubMed Central

    Twisk, Frank N. M.

    2014-01-01

    Although Myalgic Encephalomyelitis (ME) and Chronic Fatigue Syndrome (CFS) are used interchangeably, the diagnostic criteria define two distinct clinical entities. Cognitive impairment, (muscle) weakness, circulatory disturbances, marked variability of symptoms, and, above all, post-exertional malaise: a long-lasting increase of symptoms after a minor exertion, are distinctive symptoms of ME. This latter phenomenon separates ME, a neuro-immune illness, from chronic fatigue (syndrome), other disorders and deconditioning. The introduction of the label, but more importantly the diagnostic criteria for CFS have generated much confusion, mostly because chronic fatigue is a subjective and ambiguous notion. CFS was redefined in 1994 into unexplained (persistent or relapsing) chronic fatigue, accompanied by at least four out of eight symptoms, e.g., headaches and unrefreshing sleep. Most of the research into ME and/or CFS in the last decades was based upon the multivalent CFS criteria, which define a heterogeneous patient group. Due to the fact that fatigue and other symptoms are non-discriminative, subjective experiences, research has been hampered. Various authors have questioned the physiological nature of the symptoms and qualified ME/CFS as somatization. However, various typical symptoms can be assessed objectively using standardized methods. Despite subjective and unclear criteria and measures, research has observed specific abnormalities in ME/CFS repetitively, e.g., immunological abnormalities, oxidative and nitrosative stress, neurological anomalies, circulatory deficits and mitochondrial dysfunction. However, to improve future research standards and patient care, it is crucial that patients with post-exertional malaise (ME) and patients without this odd phenomenon are acknowledged as separate clinical entities that the diagnosis of ME and CFS in research and clinical practice is based upon accurate criteria and an objective assessment of characteristic symptoms

  4. Diagnostic limitations to accurate diagnosis of cholera.

    PubMed

    Alam, Munirul; Hasan, Nur A; Sultana, Marzia; Nair, G Balakrish; Sadique, A; Faruque, A S G; Endtz, Hubert P; Sack, R B; Huq, A; Colwell, R R; Izumiya, Hidemasa; Morita, Masatomo; Watanabe, Haruo; Cravioto, Alejandro

    2010-11-01

    The treatment regimen for diarrhea depends greatly on correct diagnosis of its etiology. Recent diarrhea outbreaks in Bangladesh showed Vibrio cholerae to be the predominant cause, although more than 40% of the suspected cases failed to show cholera etiology by conventional culture methods (CMs). In the present study, suspected cholera stools collected from every 50th patient during an acute diarrheal outbreak were analyzed extensively using different microbiological and molecular tools to determine their etiology. Of 135 stools tested, 86 (64%) produced V. cholerae O1 by CMs, while 119 (88%) tested positive for V. cholerae O1 by rapid cholera dipstick (DS) assay; all but three samples positive for V. cholerae O1 by CMs were also positive for V. cholerae O1 by DS assay. Of 49 stools that lacked CM-based cholera etiology despite most being positive for V. cholerae O1 by DS assay, 25 (51%) had coccoid V. cholerae O1 cells as confirmed by direct fluorescent antibody (DFA) assay, 36 (73%) amplified primers for the genes wbe O1 and ctxA by multiplex-PCR (M-PCR), and 31 (63%) showed El Tor-specific lytic phage on plaque assay (PA). Each of these methods allowed the cholera etiology to be confirmed for 97% of the stool samples. The results suggest that suspected cholera stools that fail to show etiology by CMs during acute diarrhea outbreaks may be due to the inactivation of V. cholerae by in vivo vibriolytic action of the phage and/or nonculturability induced as a host response.

  5. Imaging tests for accurate diagnosis of acute biliary pancreatitis.

    PubMed

    Şurlin, Valeriu; Săftoiu, Adrian; Dumitrescu, Daniela

    2014-11-28

    Gallstones represent the most frequent aetiology of acute pancreatitis in many statistics all over the world, estimated between 40%-60%. Accurate diagnosis of acute biliary pancreatitis (ABP) is of outmost importance because clearance of lithiasis [gallbladder and common bile duct (CBD)] rules out recurrences. Confirmation of biliary lithiasis is done by imaging. The sensitivity of the ultrasonography (US) in the detection of gallstones is over 95% in uncomplicated cases, but in ABP, sensitivity for gallstone detection is lower, being less than 80% due to the ileus and bowel distension. Sensitivity of transabdominal ultrasonography (TUS) for choledocolithiasis varies between 50%-80%, but the specificity is high, reaching 95%. Diameter of the bile duct may be orientative for diagnosis. Endoscopic ultrasonography (EUS) seems to be a more effective tool to diagnose ABP rather than endoscopic retrograde cholangiopancreatography (ERCP), which should be performed only for therapeutic purposes. As the sensitivity and specificity of computerized tomography are lower as compared to state-of-the-art magnetic resonance cholangiopancreatography (MRCP) or EUS, especially for small stones and small diameter of CBD, the later techniques are nowadays preferred for the evaluation of ABP patients. ERCP has the highest accuracy for the diagnosis of choledocholithiasis and is used as a reference standard in many studies, especially after sphincterotomy and balloon extraction of CBD stones. Laparoscopic ultrasonography is a useful tool for the intraoperative diagnosis of choledocholithiasis. Routine exploration of the CBD in cases of patients scheduled for cholecystectomy after an attack of ABP was not proven useful. A significant rate of the so-called idiopathic pancreatitis is actually caused by microlithiasis and/or biliary sludge. In conclusion, the general algorithm for CBD stone detection starts with anamnesis, serum biochemistry and then TUS, followed by EUS or MRCP. In the end

  6. Odontoma-associated tooth impaction: accurate diagnosis with simple methods? Case report and literature review.

    PubMed

    Troeltzsch, Matthias; Liedtke, Jan; Troeltzsch, Volker; Frankenberger, Roland; Steiner, Timm; Troeltzsch, Markus

    2012-10-01

    Odontomas account for the largest fraction of odontogenic tumors and are frequent causes of tooth impaction. A case of a 13-year-old female patient with an odontoma-associated impaction of a mandibular molar is presented with a review of the literature. Preoperative planning involved simple and convenient methods such as clinical examination and panoramic radiography, which led to a diagnosis of complex odontoma and warranted surgical removal. The clinical diagnosis was confirmed histologically. Multidisciplinary consultation may enable the clinician to find the accurate diagnosis and appropriate therapy based on the clinical and radiographic appearance. Modern radiologic methods such as cone-beam computed tomography or computed tomography should be applied only for special cases, to decrease radiation.

  7. Venous malformations: clinical diagnosis and treatment

    PubMed Central

    Behravesh, Sasan; Yakes, Wayne; Gupta, Nikhil; Naidu, Sailendra; Chong, Brian W.; Khademhosseini, Ali

    2016-01-01

    Venous malformation (VM) is the most common type of congenital vascular malformation (CVM). They are present at birth and are often symptomatic, causing morbidity and pain. VMs can be challenging to diagnose and are often confused with hemangioma in terminology as well as with imaging. An accurate clinical history and cross-sectional imaging are critical for diagnosis and for devising management. This manuscript will review imaging approaches to diagnosing VMs and current treatment strategies. PMID:28123976

  8. Accuracy of clinical diagnosis in knee arthroscopy.

    PubMed Central

    Brooks, Stuart; Morgan, Mamdouh

    2002-01-01

    A prospective study of 238 patients was performed in a district general hospital to assess current diagnostic accuracy rates and to ascertain the use and the effectiveness of magnetic resonance imaging (MRI) scanning in reducing the number of negative arthroscopies. The pre-operative diagnosis of patients listed for knee arthroscopy was medial meniscus tear 94 (40%) and osteoarthritis 59 (25%). MRI scans were requested in 57 patients (24%) with medial meniscus tear representing 65% (37 patients). The correlation study was done between pre-operative diagnosis, MRI and arthroscopic diagnosis. Clinical diagnosis was as accurate as the MRI with 79% agreement between the preoperative diagnosis and arthroscopy compared to 77% agreement between MRI scan and arthroscopy. There was no evidence, in this study, that MRI scan can reduce the number of negative arthroscopies. Four normal MRI scans had positive arthroscopic diagnosis (two torn medial meniscus, one torn lateral meniscus and one chondromalacia patella). Out of 240 arthroscopies, there were only 10 normal knees (negative arthroscopy) representing 4% of the total number of knee arthroscopies; one patient of those 10 cases had MRI scan with ACL rupture diagnosis. Images Figure 1 Figure 2 PMID:12215031

  9. Diagnostic yield of blood clot culture in the accurate diagnosis of enteric fever and human brucellosis.

    PubMed

    Mantur, Basappa G; Bidari, Laxman H; Akki, Aravind S; Mulimani, Mallanna S; Tikare, Nitin V

    2007-01-01

    Culture of blood is the most frequent, accurate means of diagnosing bacteremia in enteric fever and brucellosis. However, conventional blood culturing is slow in isolating bacteria causing these diseases. In this work, we evaluated the performance of blood clot culture and conventional whole blood cultures in the accurate diagnosis of enteric fever (253 cases) and human brucellosis (71cases). The blood clot culture was found to be much more sensitive for both Salmonella (more by 34.4%, P< 0.001) and Brucella (more by 22.6%, P<0.001) than whole blood culture. Bacterial growth was significantly faster in cultures of blood clot compared to whole blood (1.1 versus 2.6 days for Salmonella, 3.1 versus 8.2 days for Brucella melitensis, respectively). The rapid confirmation of the etiological agent would facilitate an early institution of appropriate antimicrobial therapy, thereby reducing clinical morbidity especially in an endemic population. It is worthwile practicing blood clot culture for the accurate diagnosis of enteric fever and brucellosis in developing countries where diagnostic facilities by advanced technologies like automated culture systems and PCR are not available.

  10. [Methods of rapid diagnosis in clinical microbiology: Clinical needs].

    PubMed

    Vila, Jordi; Gómez, María Dolores; Salavert, Miguel; Bosch, Jordi

    2017-01-01

    The diagnostic methods of infectious diseases should be fast, accurate, simple and affordable. The speed of diagnosis can play a crucial role in healing the patient, allowing the administration of appropriate antibiotic treatment. One aspect that increasingly determines the need for rapid diagnostic techniques is the increased rates of serious infections caused by multidrug resistant bacteria, which cause a high probability of error in the empirical treatment. Some of the conventional methods such as Gram staining or antigen detection can generate results in less than 1 hour but lack sensitivity. Today we are witnessing a major change in clinical microbiology laboratories with the technological advances such as molecular diagnostics, digital microbiology and mass spectrometry. There are several studies showing that these changes in the microbiological diagnosis reduce the generation time of the test results, which has an obvious clinical impact. However, if we look into the future, other new technologies which will cover the needs required for a rapid microbiological diagnosis are on the horizon. This review provides an in depth analysis of the clinical impact that the implementation of rapid diagnostic techniques will have on unmet clinical needs.

  11. Accurate stone analysis: the impact on disease diagnosis and treatment.

    PubMed

    Mandel, Neil S; Mandel, Ian C; Kolbach-Mandel, Ann M

    2017-02-01

    This manuscript reviews the requirements for acceptable compositional analysis of kidney stones using various biophysical methods. High-resolution X-ray powder diffraction crystallography and Fourier transform infrared spectroscopy (FTIR) are the only acceptable methods in our labs for kidney stone analysis. The use of well-constructed spectral reference libraries is the basis for accurate and complete stone analysis. The literature included in this manuscript identify errors in most commercial laboratories and in some academic centers. We provide personal comments on why such errors are occurring at such high rates, and although the work load is rather large, it is very worthwhile in providing accurate stone compositions. We also provide the results of our almost 90,000 stone analyses and a breakdown of the number of components we have observed in the various stones. We also offer advice on determining the method used by the various FTIR equipment manufacturers who also provide a stone analysis library so that the FTIR users can feel comfortable in the accuracy of their reported results. Such an analysis on the accuracy of the individual reference libraries could positively influence the reduction in their respective error rates.

  12. Accurate telemonitoring of Parkinson's disease diagnosis using robust inference system.

    PubMed

    Mandal, Indrajit; Sairam, N

    2013-05-01

    This work presents more precise computational methods for improving the diagnosis of Parkinson's disease based on the detection of dysphonia. New methods are presented for enhanced evaluation and recognize Parkinson's disease affected patients at early stage. Analysis is performed with significant level of error tolerance rate and established our results with corrected T-test. Here new ensembles and other machine learning methods consisting of multinomial logistic regression classifier with Haar wavelets transformation as projection filter that outperform logistic regression is used. Finally a novel and reliable inference system is presented for early recognition of people affected by this disease and presents a new measure of the severity of the disease. Feature selection method is based on Support Vector Machines and ranker search method. Performance analysis of each model is compared to the existing methods and examines the main advancements and concludes with propitious results. Reliable methods are proposed for treating Parkinson's disease that includes sparse multinomial logistic regression, Bayesian network, Support Vector Machines, Artificial Neural Networks, Boosting methods and their ensembles. The study aim at improving the quality of Parkinson's disease treatment by tracking them and reinforce the viability of cost effective, regular and precise telemonitoring application.

  13. Detailed behavioral assessment promotes accurate diagnosis in patients with disorders of consciousness

    PubMed Central

    Gilutz, Yael; Lazary, Avraham; Karpin, Hana; Vatine, Jean-Jacques; Misha, Tamar; Fortinsky, Hadassah; Sharon, Haggai

    2015-01-01

    Introduction: Assessing the awareness level in patients with disorders of consciousness (DOC) is made on the basis of exhibited behaviors. However, since motor signs of awareness (i.e., non-reflex motor responses) can be very subtle, differentiating the vegetative from minimally conscious states (which is in itself not clear-cut) is often challenging. Even the careful clinician relying on standardized scales may arrive at a wrong diagnosis. Aim: To report our experience in tackling this problem by using two in-house use assessment procedures developed at Reuth Rehabilitation Hospital, and demonstrate their clinical significance by reviewing two cases. Methods: (1) Reuth DOC Response Assessment (RDOC-RA) –administered in addition to the standardized tools, and emphasizes the importance of assessing a wide range of motor responses. In our experience, in some patients the only evidence for awareness may be a private specific movement that is not assessed by standard assessment tools. (2) Reuth DOC Periodic Intervention Model (RDOC-PIM) – current literature regarding assessment and diagnosis in DOC refers mostly to the acute phase of up to 1 year post injury. However, we have found major changes in responsiveness occurring 1 year or more post-injury in many patients. Therefore, we conduct periodic assessments at predetermined times points to ensure patients are not misdiagnosed or neurological changes overlooked. Results: In the first case the RDOC-RA promoted a more accurate diagnosis than that based on standardized scales alone. The second case shows how the RDOC-PIM allowed us to recognize late recovery and promoted reinstatement of treatment with good results. Conclusion: Adding a detailed periodic assessment of DOC patients to existing scales can yield critical information, promoting better diagnosis, treatment, and clinical outcomes. We discuss the implications of this observation for the future development and validation of assessment tools in DOC patients

  14. Rules for clinical diagnosis in babies with ambiguous genitalia.

    PubMed

    Low, Y; Hutson, J M

    2003-08-01

    Intersex disorders are rare and complex; yet, in each case of genital ambiguity, accurate and expeditious management is required of the clinician. This article reviews the embryology of sexual differentiation, from which some 'rules' of diagnosis are derived. A simplified approach to the interpretation of clinical signs in ambiguous genitalia is presented and discussed.

  15. Development and Validation of a Highly Accurate Quantitative Real-Time PCR Assay for Diagnosis of Bacterial Vaginosis

    PubMed Central

    Smith, William L.; Chadwick, Sean G.; Toner, Geoffrey; Mordechai, Eli; Adelson, Martin E.; Aguin, Tina J.; Sobel, Jack D.

    2016-01-01

    Bacterial vaginosis (BV) is the most common gynecological infection in the United States. Diagnosis based on Amsel's criteria can be challenging and can be aided by laboratory-based testing. A standard method for diagnosis in research studies is enumeration of bacterial morphotypes of a Gram-stained vaginal smear (i.e., Nugent scoring). However, this technique is subjective, requires specialized training, and is not widely available. Therefore, a highly accurate molecular assay for the diagnosis of BV would be of great utility. We analyzed 385 vaginal specimens collected prospectively from subjects who were evaluated for BV by clinical signs and Nugent scoring. We analyzed quantitative real-time PCR (qPCR) assays on DNA extracted from these specimens to quantify nine organisms associated with vaginal health or disease: Gardnerella vaginalis, Atopobium vaginae, BV-associated bacteria 2 (BVAB2, an uncultured member of the order Clostridiales), Megasphaera phylotype 1 or 2, Lactobacillus iners, Lactobacillus crispatus, Lactobacillus gasseri, and Lactobacillus jensenii. We generated a logistic regression model that identified G. vaginalis, A. vaginae, and Megasphaera phylotypes 1 and 2 as the organisms for which quantification provided the most accurate diagnosis of symptomatic BV, as defined by Amsel's criteria and Nugent scoring, with 92% sensitivity, 95% specificity, 94% positive predictive value, and 94% negative predictive value. The inclusion of Lactobacillus spp. did not contribute sufficiently to the quantitative model for symptomatic BV detection. This molecular assay is a highly accurate laboratory tool to assist in the diagnosis of symptomatic BV. PMID:26818677

  16. Rapid and Accurate Diagnosis of Human Intestinal Spirochetosis by Fluorescence In Situ Hybridization▿

    PubMed Central

    Schmiedel, Dinah; Epple, Hans-Jörg; Loddenkemper, Christoph; Ignatius, Ralf; Wagner, Jutta; Hammer, Bettina; Petrich, Annett; Stein, Harald; Göbel, Ulf B.; Schneider, Thomas; Moter, Annette

    2009-01-01

    Human intestinal spirochetosis (HIS) is associated with overgrowth of the large intestine by spirochetes of the genus Brachyspira. The microbiological diagnosis of HIS is hampered by the fastidious nature and slow growth of Brachyspira spp. In clinical practice, HIS is diagnosed histopathologically, and a significant portion of cases may be missed. Fluorescence in situ hybridization (FISH) is a molecular method that allows the visualization and identification of single bacteria within tissue sections. In this study, we analyzed intestinal biopsy samples from five patients with possible HIS. All specimens yielded positive results by histopathological techniques. PCR amplification and sequencing of the 16S rRNA gene were performed. Sequences of two isolates clustered in the group of Brachyspira aalborgi, whereas in three cases, the sequences were highly similar to that of Brachyspira pilosicoli. Three phylotypes showed mismatches at distinct nucleotide positions with Brachyspira sp. sequences published previously. In addition, culture for Brachyspira was successful in three cases. On the basis of these data, we designed and evaluated a Brachyspira genus-specific 16S rRNA-directed FISH probe that detects all of the Brachyspira spp. published to date. FISH of biopsy samples resulted in strong, unequivocal signals of brush-like formations at the crypt surfaces. This technique allowed simultaneous visualization of single spirochetes and their identification as Brachyspira spp. In conclusion, FISH provides a fast and accurate technique for the visualization and identification of intestinal spirochetes in tissue sections. It therefore represents a valuable tool for routine diagnosis of HIS. PMID:19279178

  17. Histoplasmosis and skin lesions in HIV: a safe and accurate diagnosis.

    PubMed

    Moreno-Coutiño, Gabriela; Hernández-Castro, Rigoberto; Toussaint-Caire, Sonia; Montiel-Robles, Melisa; Sánchez-Pérez, Fiama Selene; Xicohtencatl-Cortés, Juan

    2015-07-01

    Human histoplasmosis is caused by the dimorphic fungus Histoplasma capsulatum. This infection can run asymptomatic or be life-threatening, depending fundamentally on the host's immune status. Immunocompromised patients can present disseminated disease to the skin, making the biopsy an accessible approach. The current diagnosis gold standard is fungal culture which takes several days or weeks to grow and must be handled in a biosafe laboratory which is avoided if we use the technique here described. We propose the use of molecular biology for diagnosis confirmation, considering it can shorten diagnosis lapse, has good specificity and sensitivity and reduces the risk of infection for the medical and laboratory personnel. Seven paraffin-embedded skin biopsy samples were included from patients with confirmed HIV and histoplasmosis diagnosis. Total DNA was isolated and molecular typing of H. capsulatum var. capsulatum. All samples were positive. This is a safe and accurate method for skin histoplasmosis diagnosis.

  18. Development and Validation of a Highly Accurate Quantitative Real-Time PCR Assay for Diagnosis of Bacterial Vaginosis.

    PubMed

    Hilbert, David W; Smith, William L; Chadwick, Sean G; Toner, Geoffrey; Mordechai, Eli; Adelson, Martin E; Aguin, Tina J; Sobel, Jack D; Gygax, Scott E

    2016-04-01

    Bacterial vaginosis (BV) is the most common gynecological infection in the United States. Diagnosis based on Amsel's criteria can be challenging and can be aided by laboratory-based testing. A standard method for diagnosis in research studies is enumeration of bacterial morphotypes of a Gram-stained vaginal smear (i.e., Nugent scoring). However, this technique is subjective, requires specialized training, and is not widely available. Therefore, a highly accurate molecular assay for the diagnosis of BV would be of great utility. We analyzed 385 vaginal specimens collected prospectively from subjects who were evaluated for BV by clinical signs and Nugent scoring. We analyzed quantitative real-time PCR (qPCR) assays on DNA extracted from these specimens to quantify nine organisms associated with vaginal health or disease:Gardnerella vaginalis,Atopobium vaginae, BV-associated bacteria 2 (BVAB2, an uncultured member of the orderClostridiales),Megasphaeraphylotype 1 or 2,Lactobacillus iners,Lactobacillus crispatus,Lactobacillus gasseri, andLactobacillus jensenii We generated a logistic regression model that identifiedG. vaginalis,A. vaginae, andMegasphaeraphylotypes 1 and 2 as the organisms for which quantification provided the most accurate diagnosis of symptomatic BV, as defined by Amsel's criteria and Nugent scoring, with 92% sensitivity, 95% specificity, 94% positive predictive value, and 94% negative predictive value. The inclusion ofLactobacillusspp. did not contribute sufficiently to the quantitative model for symptomatic BV detection. This molecular assay is a highly accurate laboratory tool to assist in the diagnosis of symptomatic BV.

  19. Diagnosis of hyperandrogenism: clinical criteria.

    PubMed

    Yildiz, Bulent O

    2006-06-01

    Hyperandrogenism or androgen excess is a common endocrine disorder of women of reproductive-age, with a prevalence of 5-10%. The majority of patients with hyperandrogenism will have polycystic ovary syndrome. Hyperandrogenism presents a complex diagnostic challenge for both the practicing physician and the clinical investigator. Clinical manifestations of hyperandrogenism include hirsutism, acne, androgenic alopecia, and virilization. Hirsutism, defined as excessive growth of terminal hair in women in a male-like pattern, is the most commonly used clinical diagnostic criterion of hyperandrogenism. The presence of hirsutism is usually determined by using a standardized scoring system of hair growth. Depending on the definition, hirsutism is present in up to 80% of patients with hyperandrogenism. Acne and androgenic alopecia are other common androgenic skin changes, and might be observed without hirsutism in some hyperandrogenic women. However, isolated presence of any of these manifestations is not used as a diagnostic criterion for hyperandrogenism. Virilization is a relatively uncommon feature of hyperandrogenism, and its presence often suggests an androgen-producing tumor. A thorough history and a focused clinical examination are extremely helpful in diagnostic evaluation of patients with suspected hyperandrogenism.

  20. Clinical and microbiological diagnosis of oral candidiasis

    PubMed Central

    Jiménez-Soriano, Yolanda

    2013-01-01

    Introduction: Candidiasis or oral candidiasis is the most frequent mucocutaneous mycosis of the oral cavity. It is produced by the genus Candida, which is found in the oral cavity of 53% of the general population as a common commensal organism. One hundred and fifty species have been isolated in the oral cavity, and 80% of the isolates correspond to Candida albicans, which can colonize the oral cavity alone or in combination with other species. Transformation from commensal organism to pathogen depends on the intervention of different predisposing factors that modify the microenvironment of the oral cavity and favor the appearance of opportunistic infection. The present study offers a literature review on the diagnosis of oral candidiasis, with the purpose of establishing when complementary microbiological techniques for the diagnosis of oral candidiasis should be used, and which techniques are most commonly employed in routine clinical practice in order to establish a definitive diagnosis. Materials and methods: A Medline-PubMed, Scopus and Cochrane search was made covering the last 10 years. Results: The diagnosis of oral candidiasis is fundamentally clinical. Microbiological techniques are used when the clinical diagnosis needs to be confirmed, for establishing a differential diagnosis with other diseases, and in cases characterized by resistance to antifungal drugs. Biopsies in turn are indicated in patients with hyperplastic candidiasis. Staining (10% KOH) and culture (Sabouraud dextrose agar) are the methods most commonly used for diagnosing primary candidiasis. Identification of the individual species of Candida is usually carried out with CHROMagar Candida®. For the diagnosis of invasive candidiasis, and in cases requiring differentiation between C. albicans and C. dubliniensis, use is made of immunological and genetic techniques such as ELISA and PCR. Key words:Clinical, oral candidiasis, microbiology. PMID:24455095

  1. Orofacial tuberculosis: Clinical manifestations, diagnosis and management

    PubMed Central

    Bansal, Ramta; Jain, Aditya; Mittal, Sunandan

    2015-01-01

    Orofacial tuberculosis (TB) is an uncommon form of extrapulmonary TB and is nonspecific in its clinical presentation. It can be misdiagnosed especially when oral lesions are present before systemic symptoms become apparent. Doctors especially attending dentist who generally is the first among clinicians to come across such pathological entity should be aware of the orofacial lesions of TB and consider them in the differential diagnosis of suspicious oral lesions to ensure early diagnosis of TB and its treatment. In this review, we have discussed in detail the clinical presentation of various forms of orofacial TB, diagnosis, and management of patients. Also, an update is provided about recent anti-TB drug development. PMID:26288770

  2. Idiopathic Pulmonary Fibrosis: Diagnosis and Clinical Manifestations

    PubMed Central

    Nakamura, Yutaro; Suda, Takafumi

    2015-01-01

    Idiopathic pulmonary fibrosis (IPF) is a parenchymal lung disease characterized by progressive interstitial fibrosis. The clinical course of IPF can be unpredictable and may be punctuated by acute exacerbations. Although much progress is being made in unraveling the mechanisms underlying IPF, effective therapy for improving survival remains elusive. Longitudinal disease profiling, especially in terms of clinical manifestations in a large cohort of patients, should lead to proper management of the patients and development of new treatments for IPF. Appropriate multidisciplinary assessment in ongoing registries is required to achieve this. This review summarizes the current status of the diagnosis and clinical manifestations of IPF. PMID:27625576

  3. Open lung biopsy: a safe, reliable and accurate method for diagnosis in diffuse lung disease.

    PubMed

    Shah, S S; Tsang, V; Goldstraw, P

    1992-01-01

    The ideal method for obtaining lung tissue for diagnosis should provide high diagnostic yield with low morbidity and mortality. We reviewed all 432 patients (mean age 55 years) who underwent an open lung biopsy at this hospital over a 10-year period. Twenty-four patients (5.5%) were immunocompromised. One hundred and twenty-five patients were on steroid therapy at the time of operation. Open lung biopsy provided a firm diagnosis in 410 cases overall (94.9%) and in 20 out of 24 patients in the immunocompromised group (83.3%). The commonest diagnosis was cryptogenic fibrosing alveolitis (173 patients). Twenty-two patients (5.1%) suffered complications following the procedure: wound infection 11 patients, pneumothorax 9 patients and haemothorax 1 patient. Thirteen patients (3.0%) died following open lung biopsy, but in only 1 patient was the death attributable to the procedure itself. We conclude that open lung biopsy is an accurate and safe method for establishing a diagnosis in diffuse lung disease with a high yield and minimal risk.

  4. MicroRNA-200 Family Profile: A Promising Ancillary Tool for Accurate Cancer Diagnosis.

    PubMed

    Liu, Xiaodong; Zhang, Jianhua; Xie, Botao; Li, Hao; Shen, Jihong; Chen, Jianheng

    2016-01-01

    Cancer is one of the most threatening diseases in the world and great interests have been paid to discover accurate and noninvasive methods for cancer diagnosis. The value of microRNA-200 (miRNA-200, miR-200) family has been revealed in many studies. However, the results from various studies were inconsistent, and thus a meta-analysis was designed and performed to assess the overall value of miRNA200 in cancer diagnosis. Relevant studies were searched electronically from the following databases: PubMed, Embase, Web of Science, the Cochrane Library, and Chinese National Knowledge Infrastructure. Keyword combined with "miR-200," "cancer," and "diagnosis" in any fields was used for searching relevant studies. Then, the pooled sensitivity, specificity, area under the curve (AUC), and partial AUC were calculated using the random-effects model. Heterogeneity among individual studies was also explored by subgroup analyses. A total of 28 studies from 18 articles with an overall sample size of 3676 subjects (2097 patients and 1579 controls) were included in this meta-analysis. The overall sensitivity and specificity with 95% confidence intervals (95% CIs) are 0.709 (95% CI: 0.657-0.755) and 0.667 (95% CI: 0.617-0.713), respectively. Additionally, AUC and partial AUC for the pooled data is 0.735 and 0.627, respectively. Subgroup analyses revealed that using miRNA-200 family for cancer diagnosis is more effective in white than in Asian ethnic groups. In addition, cancer diagnosis by miRNA using circulating specimen is more effective than that using noncirculating specimen. Finally, miRNA is more accurate in diagnosing endometrial cancer than other types of cancer, and some miRNA family members (miR-200b and miR-429) have superior diagnostic accuracy than other miR-200 family members. In conclusion, the profiling of miRNA-200 family is likely to be a valuable tool in cancer detection and diagnosis.

  5. How accurate are leukocyte indices and C-reactive protein for diagnosis of neonatal sepsis?

    PubMed Central

    da Silva, Orlando; Ohlsson, Arne

    1998-01-01

    Early diagnosis of neonatal sepsis is often difficult to make. Treatment on the basis of clinical suspicion and risk factors may result in overtreatment. A previous review of the usefulness of C-reactive protein and leukocyte indices concluded that these test results should be interpreted with caution. The present paper reviews and, when appropriate, revises, in light of new information, the conclusions reached in the previous systematic review of the topic. PMID:20401235

  6. Pediatric insomnia: clinical, diagnosis, and treatment.

    PubMed

    Miano, Silvia; Peraita-Adrados, Rosa

    2014-01-01

    Pediatric insomnia is an extrinsic sleep disorder subdivided into two categories: behavioral insomnia and insomnia related to medical, neurological, and psychiatric diseases. This review will cover several types of insomnia, comorbidities and specific pediatric therapies according to clinical characteristics and age. Behavioral insomnia should be differentiated from pediatric insomnia due to medical conditions, mostly occurring during the first year of life. Multiple night awakenings and diurnal hypersomnolence are strong indicators of insomnia due to medical conditions. Insomnia during adolescence and pediatric insomnia associated with psychiatric comorbidity, cognitive disabilities and epilepsy, will be discussed in terms of diagnosis, clinical features and implications for treatment.

  7. Clinical presentations and diagnosis of brucellosis.

    PubMed

    Ulu-Kilic, Aysegul; Metan, Gökhan; Alp, Emine

    2013-04-01

    Brucellosis is a worldwide zoonosis caused by Brucella species. The disease remains a significant economic and public health problem particularly in the Mediterranean countries. Clinical manifestations of brucellosis are variable and often nonspecific, simulating infectious and noninfectious diseases. Osteoarticular involvement is the most common focal complication of brucellosis and morbidity. Mortality rate due to brucellosis is low, mostly secondary to endocarditis and central nerve involvement of disease. The diagnosis of brucellosis depends on the clinical presentations and laboratory tests. Detection of Brucella species by culture method is sometimes unsuccessful; therefore, serological tests are preferred. These tests are easy to perform, and results can be obtained within a short span of time. Several serologic tests have been developed for the diagnosis of human brucellosis, including the standard agglutination tube (SAT) test, anti-human globulin (Coombs) test, indirect fluorescence antibody (IFA) test, and enzyme-linked immunosorbent assay (ELISA). SAT is the primary test used in many clinical laboratories. IFA and ELISA are simple and reliable for the detection of immunoglobulin classes especially in complicated cases. Polymerase chain reaction (PCR) technique is highly sensitive and specific for the determination of Brucella spp. from peripheral blood and other tissues. Recent patents are especially based on molecular assays in the diagnosis of brucellosis. However, PCR is still expensive and may not be appropriate for daily practice.

  8. Clinically Isolated Syndromes: Clinical Characteristics, Differential Diagnosis, and Management

    PubMed Central

    EFENDİ, Hüsnü

    2015-01-01

    Clinically isolated syndrome (CIS) is a term that describes the first clinical onset of potential multiple sclerosis (MS). The term CIS is typically applied to young adults with episodes of acute or subacute onset, which reaches a peak quite rapidly within 2–3 weeks. In 85% of young adults who develop MS, onset occurs with an acute, CIS of the optic nerves, brainstem, or spinal cord. When clinically silent brain lesions are seen on MRI, the likelihood of developing MS is high. Because no single clinical feature or diagnostic test is sufficient for the diagnosis of CIS, diagnostic criteria have included a combination of both clinical and paraclinical studies. Diagnostic criteria from the International Panel of McDonald and colleagues incorporate MRI evidence of dissemination in time and space to allow a diagnosis of definite MS in patients with CIS. As CIS is typically the earliest clinical expression of MS, research on patients with CIS may provide new insights into early pathological changes and pathogenetic mechanisms that might affect the course of the disorder. With recent improvements in diagnosis and the advent of disease-modifying treatments for MS, there has been growing interest and research in patients with CIS.

  9. Dual diagnosis among physicians: a clinical perspective.

    PubMed

    Braquehais, María Dolores; Lusilla, Pilar; Bel, Miquel Jordi; Navarro, María Cecilia; Nasillo, Viviana; Díaz, Albert; Valero, Sergi; Padrós, Jaume; Bruguera, Eugeni; Casas, Miquel

    2014-01-01

    Co-occurrence of mental disorders and substance use disorders (dual diagnosis) among doctors is a cause of serious concern due to its negative personal, professional, and social consequences. This work provides an overview of the prevalence of dual diagnosis among physicians, suggests a clinical etiological model to explain the development of dual diagnosis in doctors, and recommends some treatment strategies specifically for doctors. The most common presentation of dual diagnosis among doctors is the combination of alcohol use disorders and affective disorders. There are also high rates of self-medication with benzodiazepines, legal opiates, and amphetamines compared to the general population, and cannabis use disorders are increasing, mainly in young doctors. The prevalence of nicotine dependence varies from one country to another depending on the nature of public health policies. Emergency medicine physicians, psychiatrists, and anaesthesiologists are at higher risk for developing a substance use disorder compared with other doctors, perhaps because of their knowledge of and access to certain legal drugs. Two main pathways may lead doctors toward dual diagnosis: (a) the use of substances (often alcohol or self-prescribed drugs) as an unhealthy strategy to cope with their emotional or mental distress and (b) the use of substances for recreational or other purposes. In both cases, doctors tend to delay seeking help once a problem has been established, often for many years. Denial, minimization, and rationalization are common defense mechanisms, maybe because of the social stigma associated with mental or substance use disorders, the risk of losing employment/medical license, and a professional culture of perfectionism and denial of emotional needs or failures. Personal vulnerability interacts with these factors to increase the risk of a dual diagnosis developing in some individuals. When doctors with substance use disorders accept treatment in programs

  10. Accurate diagnosis of thyroid follicular lesions from nuclear morphology using supervised learning

    PubMed Central

    Ozolek, John A.; Tosun, Akif Burak; Wang, Wei; Chen, Cheng; Kolouri, Soheil; Basu, Saurav; Huang, Hu; Rohde, Gustavo K.

    2014-01-01

    Follicular lesions of the thyroid remain significant diagnostic challenges in surgical pathology and cytology. The diagnosis often requires considerable resources and ancillary tests including immunohistochemistry, molecular studies, and expert consultation. Visual analyses of nuclear morphological features, generally speaking, have not been helpful in distinguishing this group of lesions. Here we describe a method for distinguishing between follicular lesions of the thyroid based on nuclear morphology. The method utilizes an optimal transport-based linear embedding for segmented nuclei, together with an adaptation of existing classification methods. We show the method outputs assignments (classification results) which are near perfectly correlated with the clinical diagnosis of several lesion types' lesions utilizing a database of 94 patients in total. Experimental comparisons also show the new method can significantly outperform standard numerical feature-type methods in terms of agreement with the clinical diagnosis gold standard. In addition, the new method could potentially be used to derive insights into biologically meaningful nuclear morphology differences in these lesions. Our methods could be incorporated into a tool for pathologists to aid in distinguishing between follicular lesions of the thyroid. In addition, these results could potentially provide nuclear morphological correlates of biological behavior and reduce health care costs by decreasing histotechnician and pathologist time and obviating the need for ancillary testing. PMID:24835183

  11. Clinical diagnosis of hyposalivation in hospitalized patients

    PubMed Central

    BERTI-COUTO, Soraya de Azambuja; COUTO-SOUZA, Paulo Henrique; JACOBS, Reinhilde; NACKAERTS, Olivia; RUBIRA-BULLEN, Izabel Regina Fischer; WESTPHALEN, Fernando Henrique; MOYSÉS, Samuel Jorge; IGNÁCIO, Sérgio Aparecido; da COSTA, Maitê Barroso; TOLAZZI, Ana Lúcia

    2012-01-01

    Objective The aim of this study was to evaluate the effectiveness of clinical criteria for the diagnosis of hyposalivation in hospitalized patients. Material and Methods A clinical study was carried out on 145 subjects (48 males; 97 females; aged 20 to 90 years). Each subject was clinically examined, in the morning and in the afternoon, along 1 day. A focused anamnesis allowed identifying symptoms of hyposalivation, like xerostomia complaints (considered as a reference symptom), chewing difficulty, dysphagia and increased frequency of liquid intake. Afterwards, dryness of the mucosa of the cheecks and floor of the mouth, as well as salivary secretion during parotid gland stimulation were assessed during oral examination. Results Results obtained with Chi-square tests showed that 71 patients (48.9%) presented xerostomia complaints, with a significant correlation with all hyposalivation symptoms (p<0.05). Furthermore, xerostomia was also significantly correlated with all data obtained during oral examination in both periods of evaluation (p<0.05). Conclusion Clinical diagnosis of hyposalivation in hospitalized patients is feasible and can provide an immediate and appropriate therapy avoiding further problems and improving their quality of life. PMID:22666830

  12. [Xerostomia: clinic, etiology, diagnosis and treatment].

    PubMed

    Guobis, Zygimantas; Baseviciene, Nomeda; Paipaliene, Pajauta; Sabalys, Gintautas; Kubilius, Ricardas

    2006-01-01

    The aim of this article is to review the problem of xerostomia considering its clinical, etiological, diagnostic and treatment features, basing on the today's tutorials and scientific articles found in databases on the Internet. Recent epidemiologic data on the prevalence of xerostomia in different countries are introduced. There are analyzed the main aspects of clinical manifestations of xerostomia, according to the different etiology analyzed. The most common etiological factors causing xerostomia, especially the main three of them: radiation therapy, Sjögren's syndrome, and drugs, are pointed out. The most popular and accepted clinical and laboratory assays for measuring and evaluating the function of salivary glands are represented. Attention is paid to xerostomia as substantiation of the separate diagnosis and its role in diagnosing other diseases. The concept of possible treatment modalities and prognosis are discussed. The main and most common problems concerning xerostomia are revealed.

  13. Clinical Approach to Parkinson's Disease: Features, Diagnosis, and Principles of Management

    PubMed Central

    Massano, João; Bhatia, Kailash P.

    2012-01-01

    Parkinson's disease (PD) is one of the most common neurodegenerative disorders. The condition causes a heavy burden both on those affected, as well as their families. Accurate diagnosis is critical and remains founded on clinical grounds as no specific diagnostic test is available so far. The clinical picture of PD is typical in many instances; however, features distinguishing it from other disorders should be thoroughly sought. Monogenic forms of PD also have some distinctive characteristics in many cases. This text is a roadmap to accurate diagnosis in PD, as it approaches clinical features, diagnostic methodology, and leading differential diagnoses. Therapeutic issues are also briefly discussed. PMID:22675666

  14. Simple, rapid and accurate molecular diagnosis of acute promyelocytic leukemia by loop mediated amplification technology.

    PubMed

    Spinelli, Orietta; Rambaldi, Alessandro; Rigo, Francesca; Zanghì, Pamela; D'Agostini, Elena; Amicarelli, Giulia; Colotta, Francesco; Divona, Mariadomenica; Ciardi, Claudia; Coco, Francesco Lo; Minnucci, Giulia

    2015-01-01

    The diagnostic work-up of acute promyelocytic leukemia (APL) includes the cytogenetic demonstration of the t(15;17) translocation and/or the PML-RARA chimeric transcript by RQ-PCR or RT-PCR. This latter assays provide suitable results in 3-6 hours. We describe here two new, rapid and specific assays that detect PML-RARA transcripts, based on the RT-QLAMP (Reverse Transcription-Quenching Loop-mediated Isothermal Amplification) technology in which RNA retrotranscription and cDNA amplification are carried out in a single tube with one enzyme at one temperature, in fluorescence and real time format. A single tube triplex assay detects bcr1 and bcr3 PML-RARA transcripts along with GUS housekeeping gene. A single tube duplex assay detects bcr2 and GUSB. In 73 APL cases, these assays detected in 16 minutes bcr1, bcr2 and bcr3 transcripts. All 81 non-APL samples were negative by RT-QLAMP for chimeric transcripts whereas GUSB was detectable. In 11 APL patients in which RT-PCR yielded equivocal breakpoint type results, RT-QLAMP assays unequivocally and accurately defined the breakpoint type (as confirmed by sequencing). Furthermore, RT-QLAMP could amplify two bcr2 transcripts with particularly extended PML exon 6 deletions not amplified by RQ-PCR. RT-QLAMP reproducible sensitivity is 10(-3) for bcr1 and bcr3 and 10(-)2 for bcr2 thus making this assay particularly attractive at diagnosis and leaving RQ-PCR for the molecular monitoring of minimal residual disease during the follow up. In conclusion, PML-RARA RT-QLAMP compared to RT-PCR or RQ-PCR is a valid improvement to perform rapid, simple and accurate molecular diagnosis of APL.

  15. Simple, rapid and accurate molecular diagnosis of acute promyelocytic leukemia by loop mediated amplification technology

    PubMed Central

    Spinelli, Orietta; Rambaldi, Alessandro; Rigo, Francesca; Zanghì, Pamela; D'Agostini, Elena; Amicarelli, Giulia; Colotta, Francesco; Divona, Mariadomenica; Ciardi, Claudia; Coco, Francesco Lo; Minnucci, Giulia

    2015-01-01

    The diagnostic work-up of acute promyelocytic leukemia (APL) includes the cytogenetic demonstration of the t(15;17) translocation and/or the PML-RARA chimeric transcript by RQ-PCR or RT-PCR. This latter assays provide suitable results in 3-6 hours. We describe here two new, rapid and specific assays that detect PML-RARA transcripts, based on the RT-QLAMP (Reverse Transcription-Quenching Loop-mediated Isothermal Amplification) technology in which RNA retrotranscription and cDNA amplification are carried out in a single tube with one enzyme at one temperature, in fluorescence and real time format. A single tube triplex assay detects bcr1 and bcr3 PML-RARA transcripts along with GUS housekeeping gene. A single tube duplex assay detects bcr2 and GUSB. In 73 APL cases, these assays detected in 16 minutes bcr1, bcr2 and bcr3 transcripts. All 81 non-APL samples were negative by RT-QLAMP for chimeric transcripts whereas GUSB was detectable. In 11 APL patients in which RT-PCR yielded equivocal breakpoint type results, RT-QLAMP assays unequivocally and accurately defined the breakpoint type (as confirmed by sequencing). Furthermore, RT-QLAMP could amplify two bcr2 transcripts with particularly extended PML exon 6 deletions not amplified by RQ-PCR. RT-QLAMP reproducible sensitivity is 10−3 for bcr1 and bcr3 and 10−2 for bcr2 thus making this assay particularly attractive at diagnosis and leaving RQ-PCR for the molecular monitoring of minimal residual disease during the follow up. In conclusion, PML-RARA RT-QLAMP compared to RT-PCR or RQ-PCR is a valid improvement to perform rapid, simple and accurate molecular diagnosis of APL. PMID:25815362

  16. Ultrasound-guided core needle biopsy of the breast: does frozen section give an accurate diagnosis?

    PubMed

    Mueller-Holzner, Elisabeth; Frede, Thomas; Daniaux, Martin; Ban, Michael; Taucher, Susanne; Schneitter, Alois; Zeimet, Alain G; Marth, Christian

    2007-12-01

    Reducing the period of uncertainty between the discovery of a breast tumor and histological diagnosis alleviates the psychological impact of breast cancer to an important degree. We aimed to verify whether histological results obtained with frozen sections of core needle biopsies (CNBs) offer an accurate and reliable tool for minimising this period. In 2619 cases we compared histological diagnosis on frozen sections with those on paraffin sections of CNB and finally with the results of open biopsies. Of the cases 49% were proved malignant and 51% benign. In 99.3% of the malignant lesions preceding CNB was correctly classified as B5 (n = 1185, 92.9%) or at least B4 (n = 82, 6.4%) in frozen and in paraffin sections. There were seven false-negative cases in frozen (false-negative rate = 0.5%) and five false-negative cases (false-negative rate = 0.4%) in paraffin sections of CNB. On frozen sections complete sensitivity was 99.5% and the positive predictive value of B5 was 99.9%. There was one false-positive case in frozen sections and one in paraffin sections. False-positive rate = 0.08%, negative predictive value for B2 = 99.4% for frozen and 99.6% for paraffin sections; full specificity was 85.9 for frozen and 85.8 for paraffin sections of CNBs. Immediate investigation of CNB in frozen sections is an accurate diagnostic method and an important step in reducing psychological strain on patients with breast tumors and may be offered by specialised Breast Assessment Units.

  17. [Venous malformations: clinical characteristics and differential diagnosis].

    PubMed

    Casanova, D; Boon, L-M; Vikkula, M

    2006-01-01

    Venous malformations (VM) are localized defects of blood vessels that are due to vascular dysmorphogenesis. These slow-flow lesions can affect any tissue or organ. Clinically, a cutaneous VM is characterized by a bluish mass that is compressible on palpation. Phleboliths are commonly present. Symptoms depend on location and size. VM are often sporadic and isolated, however, they can be associated with other malformations and be part of a syndrome; Klippel-Trenaunay (capillary-lymphatico-venous malformation with limb hypertrophy) is the most common. Glomuvenous malformation (GVM) is another type of venous anomaly. In contrast to VM, GVM is often painful on palpation and not compressible. Clinical diagnosis of VM is often made in the presence of a bluish cutaneous lesion: however, other lesions can mimick VM. The most frequent anomalies are a blue naevus, a hemorrhagic lymphatic malformation, a sub-cutaneous hemangioma or even the presence of dilated superficial normal veins due to underlying venous stenoses. This chapter will detail the clinical characteristics of venous anomalies and their differential diagnosis.

  18. Probabilistic and fuzzy logic in clinical diagnosis.

    PubMed

    Licata, G

    2007-06-01

    In this study I have compared classic and fuzzy logic and their usefulness in clinical diagnosis. The theory of probability is often considered a device to protect the classical two-valued logic from the evidence of its inadequacy to understand and show the complexity of world [1]. This can be true, but it is not possible to discard the theory of probability. I will argue that the problems and the application fields of the theory of probability are very different from those of fuzzy logic. After the introduction on the theoretical bases of fuzzy approach to logic, I have reported some diagnostic argumentations employing fuzzy logic. The state of normality and the state of disease often fight their battle on scalar quantities of biological values and it is not hard to establish a correspondence between the biological values and the percent values of fuzzy logic. Accordingly, I have suggested some applications of fuzzy logic in clinical diagnosis and in particular I have utilised a fuzzy curve to recognise subjects with diabetes mellitus, renal failure and liver disease. The comparison between classic and fuzzy logic findings seems to indicate that fuzzy logic is more adequate to study the development of biological events. In fact, fuzzy logic is useful when we have a lot of pieces of information and when we dispose to scalar quantities. In conclusion, increasingly the development of technology offers new instruments to measure pathological parameters through scalar quantities, thus it is reasonable to think that in the future fuzzy logic will be employed more in clinical diagnosis.

  19. Ethics and epistemology of accurate prediction in clinical research.

    PubMed

    Hey, Spencer Phillips

    2015-07-01

    All major research ethics policies assert that the ethical review of clinical trial protocols should include a systematic assessment of risks and benefits. But despite this policy, protocols do not typically contain explicit probability statements about the likely risks or benefits involved in the proposed research. In this essay, I articulate a range of ethical and epistemic advantages that explicit forecasting would offer to the health research enterprise. I then consider how some particular confidence levels may come into conflict with the principles of ethical research.

  20. Accurate coding in sepsis: clinical significance and financial implications.

    PubMed

    Chin, Y T; Scattergood, N; Thornber, M; Thomas, S

    2016-09-01

    Sepsis is a major healthcare problem and leading cause of death worldwide. UK hospital mortality statistics and payments for patient episodes of care are calculated on clinical coding data. The accuracy of these data depends on the quality of coding. This study aimed to investigate whether patients with significant bacteraemia are coded for sepsis and to estimate the financial costs of miscoding. Of 54 patients over a one-month period with a significant bacteraemia, only 19% had been coded for sepsis. This is likely to lead to falsely high calculated hospital mortality. Furthermore, this resulted in an underpayment of £21,000 for one month alone.

  1. Herpes simplex keratitis: challenges in diagnosis and clinical management.

    PubMed

    Azher, Tayaba N; Yin, Xiao-Tang; Tajfirouz, Deena; Huang, Andrew Jw; Stuart, Patrick M

    2017-01-01

    Herpes simplex virus is responsible for numerous ocular diseases, the most common of which is herpetic stromal keratitis. This is a recurrent infection of the cornea that typically begins with a subclinical infection of the cornea that establishes a latent infection of sensory ganglia, most often the trigeminal ganglia. Recurring infections occur when the virus is reactivated from latency and travels back to the cornea, where it restimulates an inflammatory response. This inflammatory response can lead to decreased corneal sensation, scarring, and blindness. The diagnosis of these lesions as the result of a recurrent herpes simplex virus infection can at times be problematic. Currently, herpetic stromal keratitis is diagnosed by its clinical presentation on the slit-lamp examination, but the literature does not always support the accuracy of these clinical findings. Other diagnostic tests such as polymerase chain reaction assay, enzyme-linked immunosorbent assay, immunofluorescent antibody, and viral cultures have provided more definitive diagnosis, but also have some limitations. That said, accurate diagnosis is necessary for proper treatment, in order to prevent serious consequences. Current treatment reduces the severity of lesions and controls further viral spread, but does not provide a cure.

  2. Herpes simplex keratitis: challenges in diagnosis and clinical management

    PubMed Central

    Azher, Tayaba N; Yin, Xiao-Tang; Tajfirouz, Deena; Huang, Andrew JW; Stuart, Patrick M

    2017-01-01

    Herpes simplex virus is responsible for numerous ocular diseases, the most common of which is herpetic stromal keratitis. This is a recurrent infection of the cornea that typically begins with a subclinical infection of the cornea that establishes a latent infection of sensory ganglia, most often the trigeminal ganglia. Recurring infections occur when the virus is reactivated from latency and travels back to the cornea, where it restimulates an inflammatory response. This inflammatory response can lead to decreased corneal sensation, scarring, and blindness. The diagnosis of these lesions as the result of a recurrent herpes simplex virus infection can at times be problematic. Currently, herpetic stromal keratitis is diagnosed by its clinical presentation on the slit-lamp examination, but the literature does not always support the accuracy of these clinical findings. Other diagnostic tests such as polymerase chain reaction assay, enzyme-linked immunosorbent assay, immunofluorescent antibody, and viral cultures have provided more definitive diagnosis, but also have some limitations. That said, accurate diagnosis is necessary for proper treatment, in order to prevent serious consequences. Current treatment reduces the severity of lesions and controls further viral spread, but does not provide a cure. PMID:28176902

  3. Vertebral osteomyelitis: clinical features and diagnosis.

    PubMed

    Eren Gök, S; Kaptanoğlu, E; Celikbaş, A; Ergönül, O; Baykam, N; Eroğlu, M; Dokuzoğuz, B

    2014-10-01

    We aimed to describe clinical and diagnostic features of vertebral osteomyelitis for differential diagnosis and treatment. This is a prospective observational study performed between 2002 and 2012 in Ankara Numune Education and Research Hospital in Ankara, Turkey. All the patients with vertebral osteomyelitis were followed for from 6 months to 3 years. In total, 214 patients were included in the study, 113 out of 214 (53%) were female. Out of 214 patients, 96 (45%) had brucellar vertebral osteomyelitis (BVO), 63 (29%) had tuberculous vertebral osteomyelitis (TVO), and 55 (26%) had pyogenic vertebral osteomyelitis (PVO). Mean number of days between onset of symptoms and establishment of diagnosis was greater with the patients with TVO (266 days) than BVO (115 days) or PVO (151 days, p <0.001). In blood cultures, Brucella spp. were isolated from 35 of 96 BVO patients (35%). Among 55 PVO patients, the aetiological agent was isolated in 11 (20%) patients. For tuberculin skin test >15 mm, sensitivity was 0.66, specificity was 0.97, positive predictive value was 0.89, negative predictive value was 0.88, and receiver operating characteristics area was 0.8. Tuberculous and brucellar vertebral osteomyelitis remained the leading causes of vertebral osteomyelitis with delayed diagnosis. In differential diagnosis of vertebral osteomyelitis, consumption of unpasteurized cheese, dealing with husbandry, sweating, arthralgia, hepatomegaly, elevated alanine transaminase, and lumbar involvement in magnetic resonance imaging were found to be predictors of BVO, thoracic involvement in magnetic resonance imaging and tuberculin skin test > 15 mm were found to be predictors of TVO, and history of spinal surgery and leucocytosis were found to be predictors of PVO.

  4. Ethnicity and clinical psychiatric diagnosis in childhood.

    PubMed

    Minsky, Shula; Petti, Theodore; Gara, Michael; Vega, William; Lu, Weili; Kiely, Gerard

    2006-09-01

    This paper focuses on whether a consistent difference by ethnicity existed in the clinical diagnosis of children and adolescents in two behavioral health service environments and reviews plausible explanations for such a difference. Key measures were clinical diagnosis and ethnicity, abstracted from the administrative dataset of a New Jersey behavioral health care organization during 2000-2002, and a data collection conducted for the State of Indiana during 1991-1992. Sample sizes were 5,394 and 10,437, respectively. Only primary diagnoses were used in this study, classified into externalizing versus internalizing disorders. Logistic regression was performed for the dependent variable of presence/absence of an externalizing disorder or internalizing disorder. A main effect for ethnicity was found; African American youth received more externalizing diagnoses than did European American youth (odds ratio 2.01 (CI: 1.73-2.33) in one sample and 1.67 (CI: 1.44-1.94) in the other); African American youth also received fewer internalizing diagnoses than European American youth (odds ratio 0.55 (CI: .48-.63) in one sample and 0.75 (CI:.64-.88) in the other. Potential explanations for these findings include: 1. Biopsychosocial origin; 2. Clinician bias; 3. Discordant normative behavioral expectations between parents and service providers; and 4. Interaction between differential expression of underlying pathology and tolerance for such expressions.

  5. D-dimer testing and acute venous thromboembolism. A shortcut to accurate diagnosis?

    PubMed

    Becker, D M; Philbrick, J T; Bachhuber, T L; Humphries, J E

    1996-05-13

    D-dimer fragments can be measured easily in plasma and whole blood, and the presence or absence of D-dimer could be useful in the diagnostic evaluation of venous thromboembolism. We systematically reviewed the English literature for articles that compared D-dimer results with those of other tests for deep venous thrombosis or pulmonary embolism. Twenty-nine studies were selected for detailed review, and we noted wide variability in assay performance, heterogeneity among subjects, and failure to define absence or presence of venous thromboembolism by a comprehensive criterion standard for diagnosis. These methodologic problems limit the generalizability of the published estimates of D-dimer accuracy for deep venous thrombosis or pulmonary embolism, and the clinical utility of this potentially important test remains unproved.

  6. [Diagnosis and Clinical Examination of Autoinflammatory Syndrome].

    PubMed

    Ida, Hiroaki

    2015-05-01

    Autoinflammatory syndrome is characterized by: 1) episodes of seemingly unprovoked inflammation, 2) the absence of a high titer of autoantibodies or auto-reactive T cells, and 3) an inborn error of innate immunity. In this decade, many autoinflammatory syndromes have been reported in Japan, and so many Japanese physicians have become aware of this syndrome. Monogenic autoinflammatory syndromes present with excessive systemic inflammation including fever, rashes, arthritis, and organ-specific inflammation and are caused by defects in single genes encoding proteins that regulate innate inflammatory pathways. The main monogenic autoinflammatory syndromes are familial Mediterranean fever (FMF), TNF receptor-associated periodic syndrome (TRAPS), mevalonate kinase deficiency (MKD), cryopyrin-associated periodic syndrome (CAPS), Blau syndrome, and pyogenic arthritis, pyoderma gangrenosum, and acne (PAPA) syndrome. We diagnosed these syndromes as clinical manifestations and performed genetic screening. Many serum cytokines are elevated in patients with autoinflammatory syndrome, but this is not disease-specific. The pathogeneses of many autoinflammatory syndromes are known to be related to inflammasomes, which are multiprotein complexes that serve as a platform for caspase 1 activation and interleukin-1β (IL-1β) and IL-18 muturation. Especially, NLRP3 inflammasomes may play a crucial role in the intiation and progression of FMF and CAPS. In the future, we hope to discover new clinical examinations which can provide evidence of inflammasome activation independent of genetic screening. In this issue, I introduce autoinflammatory syndromes and discuss the diagnosis and clinical examination of these syndromes.

  7. Simulating Expert Clinical Comprehension: Adapting Latent Semantic Analysis to Accurately Extract Clinical Concepts from Psychiatric Narrative

    PubMed Central

    Cohen, Trevor; Blatter, Brett; Patel, Vimla

    2008-01-01

    Cognitive studies reveal that less-than-expert clinicians are less able to recognize meaningful patterns of data in clinical narratives. Accordingly, psychiatric residents early in training fail to attend to information that is relevant to diagnosis and the assessment of dangerousness. This manuscript presents cognitively motivated methodology for the simulation of expert ability to organize relevant findings supporting intermediate diagnostic hypotheses. Latent Semantic Analysis is used to generate a semantic space from which meaningful associations between psychiatric terms are derived. Diagnostically meaningful clusters are modeled as geometric structures within this space and compared to elements of psychiatric narrative text using semantic distance measures. A learning algorithm is defined that alters components of these geometric structures in response to labeled training data. Extraction and classification of relevant text segments is evaluated against expert annotation, with system-rater agreement approximating rater-rater agreement. A range of biomedical informatics applications for these methods are suggested. PMID:18455483

  8. Iofetamine I 123 single photon emission computed tomography is accurate in the diagnosis of Alzheimer's disease

    SciTech Connect

    Johnson, K.A.; Holman, B.L.; Rosen, T.J.; Nagel, J.S.; English, R.J.; Growdon, J.H. )

    1990-04-01

    To determine the diagnostic accuracy of iofetamine hydrochloride I 123 (IMP) with single photon emission computed tomography in Alzheimer's disease, we studied 58 patients with AD and 15 age-matched healthy control subjects. We used a qualitative method to assess regional IMP uptake in the entire brain and to rate image data sets as normal or abnormal without knowledge of subjects'clinical classification. The sensitivity and specificity of IMP with single photon emission computed tomography in AD were 88% and 87%, respectively. In 15 patients with mild cognitive deficits (Blessed Dementia Scale score, less than or equal to 10), sensitivity was 80%. With the use of a semiquantitative measure of regional cortical IMP uptake, the parietal lobes were the most functionally impaired in AD and the most strongly associated with the patients' Blessed Dementia Scale scores. These results indicated that IMP with single photon emission computed tomography may be a useful adjunct in the clinical diagnosis of AD in early, mild disease.

  9. Oral candidiasis: pathogenesis, clinical presentation, diagnosis and treatment strategies.

    PubMed

    Lalla, Rajesh V; Patton, Lauren L; Dongari-Bagtzoglou, Anna

    2013-04-01

    Oral candidiasis is a clinical fungal infection that is the most common opportunistic infection affecting the human oral cavity. This article reviews the pathogenesis, clinical presentations, diagnosis and treatmentstrategies for oral candidiasis.

  10. Brain SPECT quantitation in clinical diagnosis

    SciTech Connect

    Hellman, R.S.

    1991-12-31

    Methods to quantitate SPECT data for clinical diagnosis should be chosen so that they take advantage of the lessons learned from PET data. This is particularly important because current SPECT high-resolution brain imaging systems now produce images that are similar in resolution to those generated by the last generation PET equipment (9 mm FWHM). These high-resolution SPECT systems make quantitation of SPECT more problematic than earlier. Methodology validated on low-resolution SPECT systems may no longer be valid for data obtained with the newer SPECT systems. For example, in patients with dementia, the ratio of parietal to cerebellar activity often was studied. However, with new instruments, the cerebellum appears very different: discrete regions are more apparent. The large cerebellar regions usually used with older instrumentation are of an inappropriate size for the new equipment. The normal range for any method of quantitation determined using older equipment probably changes for data obtained with new equipment. It is not surprising that Kim et al. in their simulations demonstrated that because of the finite resolution of imaging systems, the ability to measure pure function is limited, with {open_quotes}anatomy{close_quotes} and {open_quotes}function{close_quotes} coupled in a {open_quotes}complex nonlinear way{close_quotes}. 11 refs.

  11. Race and Socioeconomic Status as Confounding Variables in the Accurate Diagnosis of Alcoholism.

    ERIC Educational Resources Information Center

    Luepnitz, Roy R.; And Others

    1982-01-01

    Studied the incidence of bias related to race and socioeconomic status which could confound the diagnosis of alcoholism. Graduate psychology students made a diagnosis based on videotapes. Results indicated lower socioeconomic class individuals were more often diagnosed correctly for alcoholism, and Blacks were diagnosed alcoholic more often than…

  12. The International Classification of Headache Disorders: accurate diagnosis of orofacial pain?

    PubMed

    Benoliel, R; Birman, N; Eliav, E; Sharav, Y

    2008-07-01

    The aim was to apply diagnostic criteria, as published by the International Headache Society (IHS), to the diagnosis of orofacial pain. A total of 328 consecutive patients with orofacial pain were collected over a period of 2 years. The orofacial pain clinic routinely employs criteria published by the IHS, the American Academy of Orofacial Pain (AAOP) and the Research Diagnostic Criteria for Temporomandibular Disorders (RDCTMD). Employing IHS criteria, 184 patients were successfully diagnosed (56%), including 34 with persistent idiopathic facial pain. In the remaining 144 we applied AAOP/RDCTMD criteria and diagnosed 120 as masticatory myofascial pain (MMP) resulting in a diagnostic efficiency of 92.7% (304/328) when applying the three classifications (IHS, AAOP, RDCTMD). Employing further published criteria, 23 patients were diagnosed as neurovascular orofacial pain (NVOP, facial migraine) and one as a neuropathy secondary to connective tissue disease. All the patients were therefore allocated to predefined diagnoses. MMP is clearly defined by AAOP and the RDCTMD. However, NVOP is not defined by any of the above classification systems. The features of MMP and NVOP are presented and analysed with calculations for positive (PPV) and negative predictive values (NPV). In MMP the combination of facial pain aggravated by jaw movement, and the presence of three or more tender muscles resulted in a PPV = 0.82 and a NPV = 0.86. For NVOP the combination of facial pain, throbbing quality, autonomic and/or systemic features and attack duration of > 60 min gave a PPV = 0.71 and a NPV = 0.95. Expansion of the IHS system is needed so as to integrate more orofacial pain syndromes.

  13. DNA hybridization probe for clinical diagnosis of Entamoeba histolytica.

    PubMed Central

    Samuelson, J; Acuna-Soto, R; Reed, S; Biagi, F; Wirth, D

    1989-01-01

    As an alternative to microscopic identification of Entamoeba histolytica parasites isolated from stool, a sensitive and species-specific DNA hybridization probe was made for rapid diagnosis of E. histolytica parasites in clinical samples directly applied to nylon membranes. The DNA hybridization probe was made by screening a genomic library of a virulent HM-1:IMSS strain of E. histolytica to detect recombinant plasmids containing highly repeated parasite DNA sequences. Four plasmid clones that reacted across Entamoeba species coded for highly repeated rRNA genes of E. histolytica. Four other plasmid clones were E. histolytica specific in that they bound to four axenized and nine xenic strains of E. histolytica but did not recognize closely related E. histolytica-like Laredo, Entamoeba moshkovskii, or Entamoeba invadens parasites. The diagnostic clones detected as few as eight cultured amoebae and did not distinguish between pathogenic and nonpathogenic zymodemes of E. histolytica. The diagnostic clones were sequenced and contained 145-base-pair sequences which appear to be tandemly repeated in the genome. No stable transcript which is homologous to the diagnostic DNA was detected. In a study of stool samples from Mexico City shown by microscopy to contain E. histolytica, Entamoeba coli, Giardia lamblia, Endolimax nana, Trichuris trichiuria, and Chilomastix mesnili parasites, the DNA hybridization probe demonstrated a sensitivity of 1.0 and a specificity of 0.93. We conclude that the DNA hybridization probe can be used for rapid and accurate diagnosis of E. histolytica parasites. Images PMID:2542361

  14. Pedobarography in Diagnosis and Clinical Application

    PubMed Central

    Skopljak, Amira; Muftic, Mirsad; Sukalo, Aziz; Masic, Izet; Zunic, Lejla

    2014-01-01

    Introduction: Pedobarography as a new diagnostic tool enables measuring the pressure between the foot and the floor during dynamic loading. Dynamic analysis of the foot shows advantage over static analysis due to its capabilities for detecting high load points in certain diseases and in certain phases of walking. Pedobarography as a new method in the context of rehabilitation include wide range of clinical entities. Goal: To show the advantages of pedobarography as new diagnostic and rehabilitation method in prevention programs. Material and methods: A prospective study included 100 patients with diabetes mellitus type 2. Research was conducted in the Primary Health Care Center of the Sarajevo Canton and the Center for Physical Medicine and Rehabilitation. The test parameters were: Test of balance–symmetric load for the test, the number of comorbidity, clinical examination of foot deformity, test with 10 g monofilament, HbA1c. From the total sample 45 patients (Group I) were selected, aged 50-65 years, which underwent pedobarography (on the appliance Novel Inc., Munich with EMED™ platform) and robotic fabrication of individual orthopedic insoles, followed by control pedobarography. Plantar pressure was determined using standard pedobarography, computer recorded parameters: peak pressure (kPa), force (Ns), area (cm). Results: The average age of the respondents was 59.4±11.38 years; altered results on the balance test were present in 34% of patients; 61% of respondents have ≤2 comorbidity. In the total sample, the average number of foot deformity was 2.84. Flat feet have 66% of respondents, and valgus position 57%. The average HbA1c values were 7.783±1.58% (min.5–max.15.0). All subjects (45) after the first, and after the second measurement of peak pressure, have values above 200 kPa, or are in the designated zone of peak pressure that needs to be corrected. In a study was determined the correlation between the number of deformities and peak pressure, the

  15. Summary Report on the Graded Prognostic Assessment: An Accurate and Facile Diagnosis-Specific Tool to Estimate Survival for Patients With Brain Metastases

    PubMed Central

    Sperduto, Paul W.; Kased, Norbert; Roberge, David; Xu, Zhiyuan; Shanley, Ryan; Luo, Xianghua; Sneed, Penny K.; Chao, Samuel T.; Weil, Robert J.; Suh, John; Bhatt, Amit; Jensen, Ashley W.; Brown, Paul D.; Shih, Helen A.; Kirkpatrick, John; Gaspar, Laurie E.; Fiveash, John B.; Chiang, Veronica; Knisely, Jonathan P.S.; Sperduto, Christina Maria; Lin, Nancy; Mehta, Minesh

    2012-01-01

    Purpose Our group has previously published the Graded Prognostic Assessment (GPA), a prognostic index for patients with brain metastases. Updates have been published with refinements to create diagnosis-specific Graded Prognostic Assessment indices. The purpose of this report is to present the updated diagnosis-specific GPA indices in a single, unified, user-friendly report to allow ease of access and use by treating physicians. Methods A multi-institutional retrospective (1985 to 2007) database of 3,940 patients with newly diagnosed brain metastases underwent univariate and multivariate analyses of prognostic factors associated with outcomes by primary site and treatment. Significant prognostic factors were used to define the diagnosis-specific GPA prognostic indices. A GPA of 4.0 correlates with the best prognosis, whereas a GPA of 0.0 corresponds with the worst prognosis. Results Significant prognostic factors varied by diagnosis. For lung cancer, prognostic factors were Karnofsky performance score, age, presence of extracranial metastases, and number of brain metastases, confirming the original Lung-GPA. For melanoma and renal cell cancer, prognostic factors were Karnofsky performance score and the number of brain metastases. For breast cancer, prognostic factors were tumor subtype, Karnofsky performance score, and age. For GI cancer, the only prognostic factor was the Karnofsky performance score. The median survival times by GPA score and diagnosis were determined. Conclusion Prognostic factors for patients with brain metastases vary by diagnosis, and for each diagnosis, a robust separation into different GPA scores was discerned, implying considerable heterogeneity in outcome, even within a single tumor type. In summary, these indices and related worksheet provide an accurate and facile diagnosis-specific tool to estimate survival, potentially select appropriate treatment, and stratify clinical trials for patients with brain metastases. PMID:22203767

  16. Pathophysiology, diagnosis, and clinical assessment of asthma in the adult.

    PubMed

    Killeen, Kathryn; Skora, Elizabeth

    2013-03-01

    Asthma is a chronic inflammatory disorder that is characterized by 3 distinct responses in the airways: inflammation, hyperresponsiveness, and remodeling. Clinical diagnosis of asthma is often based on the presence of symptoms, such as cough, wheeze, breathlessness, and chest tightness; but the presence of these symptoms is not exclusive to asthma, and clinical correlation with spirometry and other diagnostic testing is essential. Once a diagnosis of asthma is established, the focus of care should be toward control of the disease. This article discusses the pathophysiology, diagnosis, and clinical assessment of asthma in the adult patient population.

  17. Accurate Diagnosis of Severe Hypospadias Using 2D and 3D Ultrasounds

    PubMed Central

    López Ramón y Cajal, Carlos; Marín Ortiz, Elena; Sarmiento Carrera, Nerea

    2016-01-01

    The hypospadias is the most common urogenital anomaly of male neonates but the prenatal diagnosis of this is often missed before birth. We present the prenatal diagnosis of a severe penoscrotal hypospadias using 2D and 3D ultrasounds. 3D sonography allowed us the best evaluation of the genitals and their anatomical relations. This ample detailed study allowed us to show the findings to the parents and the pediatric surgeon and to configure the best information about the prognosis and surgical treatment. PMID:27774326

  18. Comparison of clinical diagnosis and microbiological test results in vaginal infections.

    PubMed

    Karaca, M; Bayram, A; Kocoglu, M E; Gocmen, A; Eksi, F

    2005-01-01

    Lower genital tract infections continue to be a problem due to the fact that the clinical diagnosis is usually inadequate, and subsequent care is suboptimal. This study aimed at evaluating the accuracy of clinical diagnosis by comparing it with microbiologic test results, and to determine the causative agents of vaginal infections. Sixty-seven nonpregnant women (18-45 years of age) with the clinical diagnosis of lower genital tract infection were enrolled in the study. Patients were not included if they had a history of vaginal infection during the previous three-month period or intrauterine device. The clinical diagnosis was based on the combinations of symptoms, direct observation of wet mount, homogeneous discharge, vaginal pH > 4.5, and detection of the amine odor after exposure of vaginal secretions to 10% KOH. Vaginal samples were taken with two cotton swabs, one was used for pH determination, and the second was utilized for microbiological tests. Gram staining and cultures with Sabouraud agar and chocolate agar were performed for microbiological diagnosis, and the results were compared. The clinical diagnoses included 26 (38.8%) candidiasis, 18 (26.8%) bacterial vaginosis, three (4.5%) trichomoniasis, and 20 (29.9%) mixed vaginal infections. Of the 26 patients with clinical diagnoses of candidiasis, 12 (46.1%) revealed Candiada albicans, nine (34.6) patients revealed microorganisms other than candida species, and five (19.2%) patients had no growth. Five (27.8%) bacterial vaginosis patients revealed Gardnarella vaginalis and 12 patients (66.6%) did not grow any microorganism. The overall rate of accurate clinical diagnoses confirmed by microbiological test results was 43.2%. Seventeen (43.6) of the 39 microbiological test results correlated with clinical diagnosis, and no growth was observed in 28 (41.8%) cultures. We conclude that the clinical diagnosis of vaginal infection is inadequate and should be confirmed with microbiological testing if the resources

  19. Cardiac troponins I and T: molecular markers for early diagnosis, prognosis, and accurate triaging of patients with acute myocardial infarction.

    PubMed

    Tiwari, Ram P; Jain, Anubhav; Khan, Zakir; Kohli, Veena; Bharmal, R N; Kartikeyan, S; Bisen, Prakash S

    2012-12-01

    Acute myocardial infarction (AMI) is the leading cause of death worldwide, with early diagnosis still being difficult. Promising new cardiac biomarkers such as troponins and creatine kinase (CK) isoforms are being studied and integrated into clinical practice for early diagnosis of AMI. The cardiac-specific troponins I and T (cTnI and cTnT) have good sensitivity and specificity as indicators of myocardial necrosis and are superior to CK and its MB isoenzyme (CK-MB) in this regard. Besides being potential biologic markers, cardiac troponins also provide significant prognostic information. The introduction of novel high-sensitivity troponin assays has enabled more sensitive and timely diagnosis or exclusion of acute coronary syndromes. This review summarizes the available information on the potential of troponins and other cardiac markers in early diagnosis and prognosis of AMI, and provides perspectives on future diagnostic approaches to AMI.

  20. Assessment of Clinical Diagnosis, Microscopy, Rapid Diagnostic Tests, and Polymerase Chain Reaction in the Diagnosis of Plasmodium falciparum in Nigeria

    PubMed Central

    Ojurongbe, Olusola; Adegbosin, Olunike Olayeni; Taiwo, Sunday Samuel; Alli, Oyebode Armstrong Terry; Olowe, Olugbenga Adekunle; Ojurongbe, Taiwo Adetola; Bolaji, Oloyede Samuel; Adeyeba, Oluwaseyi Adegboyega

    2013-01-01

    This study compares the performance of clinical diagnosis and three laboratory diagnostic methods (thick film microscopy (TFM), rapid diagnostic test (RDT), and polymerase chain reaction (PCR)) for the diagnosis of Plasmodium falciparum in Nigeria. Using clinical criteria, 217 children were recruited into the study out of which 106 (48.8%) were positive by TFM, 84 (38.7%) by RDT, and 125 (57.6%) by PCR. Using a composite reference method generated from the three diagnostic methods, 71 (32.7%) patients were found to be truly infected and 90 (41.5%) truly uninfected, while 56 (25.8%) were misidentified as infected or noninfected. When each of the 3 diagnostic methods was compared with the composite reference, PCR had sensitivity of 97.3%, specificity of 62.5%, positive predictive value (PPV) of 56.8%, and negative predictive value (NPV) of 97.8%; microscopy had sensitivity of 77.2%, specificity of 72%, PPV of 66.9%, and NPV of 81.1%, while RDT had sensitivity of 62.3%, specificity of 87.4%, PPV of 67.7%, and NPV of 84.5%. PCR test performed best among the three methods followed by TFM and RDT in that order. The result of this study shows that clinical diagnosis cannot be relied upon for accurate diagnosis of P. falciparum in endemic areas. PMID:24371538

  1. Assessment of Clinical Diagnosis, Microscopy, Rapid Diagnostic Tests, and Polymerase Chain Reaction in the Diagnosis of Plasmodium falciparum in Nigeria.

    PubMed

    Ojurongbe, Olusola; Adegbosin, Olunike Olayeni; Taiwo, Sunday Samuel; Alli, Oyebode Armstrong Terry; Olowe, Olugbenga Adekunle; Ojurongbe, Taiwo Adetola; Bolaji, Oloyede Samuel; Adeyeba, Oluwaseyi Adegboyega

    2013-01-01

    This study compares the performance of clinical diagnosis and three laboratory diagnostic methods (thick film microscopy (TFM), rapid diagnostic test (RDT), and polymerase chain reaction (PCR)) for the diagnosis of Plasmodium falciparum in Nigeria. Using clinical criteria, 217 children were recruited into the study out of which 106 (48.8%) were positive by TFM, 84 (38.7%) by RDT, and 125 (57.6%) by PCR. Using a composite reference method generated from the three diagnostic methods, 71 (32.7%) patients were found to be truly infected and 90 (41.5%) truly uninfected, while 56 (25.8%) were misidentified as infected or noninfected. When each of the 3 diagnostic methods was compared with the composite reference, PCR had sensitivity of 97.3%, specificity of 62.5%, positive predictive value (PPV) of 56.8%, and negative predictive value (NPV) of 97.8%; microscopy had sensitivity of 77.2%, specificity of 72%, PPV of 66.9%, and NPV of 81.1%, while RDT had sensitivity of 62.3%, specificity of 87.4%, PPV of 67.7%, and NPV of 84.5%. PCR test performed best among the three methods followed by TFM and RDT in that order. The result of this study shows that clinical diagnosis cannot be relied upon for accurate diagnosis of P. falciparum in endemic areas.

  2. Nerve biopsy findings contribute to diagnosis of multiple mononeuropathy: 78% of findings support clinical diagnosis

    PubMed Central

    Zhang, Ying-shuang; Sun, A-ping; Chen, Lu; Dong, Rong-fang; Zhong, Yan-feng; Zhang, Jun

    2015-01-01

    Multiple mononeuropathy is an unusual form of peripheral neuropathy involving two or more nerve trunks. It is a syndrome with many different causes. We reviewed the clinical, electrophysiological and nerve biopsy findings of 14 patients who suffered from multiple mononeuropathy in our clinic between January 2009 and June 2013. Patients were diagnosed with vasculitic neuropathy (n = 6), perineuritis (n = 2), chronic inflammatory demyelinating polyradiculoneuropathy (n = 2) or Lewis-Sumner syndrome (n = 1) on the basis of clinical features, laboratory data, electrophysiological investigations and nerve biopsies. Two patients who were clinically diagnosed with vasculitic neuropathy and one patient who was clinically diagnosed with chronic inflammatory demyelinating polyradiculoneuropathy were not confirmed by nerve biopsy. Nerve biopsies confirmed clinical diagnosis in 78.6% of the patients (11/14). Nerve biopsy pathological diagnosis is crucial to the etiological diagnosis of multiple mononeuropathy. PMID:25788930

  3. Nerve biopsy findings contribute to diagnosis of multiple mononeuropathy: 78% of findings support clinical diagnosis.

    PubMed

    Zhang, Ying-Shuang; Sun, A-Ping; Chen, Lu; Dong, Rong-Fang; Zhong, Yan-Feng; Zhang, Jun

    2015-01-01

    Multiple mononeuropathy is an unusual form of peripheral neuropathy involving two or more nerve trunks. It is a syndrome with many different causes. We reviewed the clinical, electrophysiological and nerve biopsy findings of 14 patients who suffered from multiple mononeuropathy in our clinic between January 2009 and June 2013. Patients were diagnosed with vasculitic neuropathy (n = 6), perineuritis (n = 2), chronic inflammatory demyelinating polyradiculoneuropathy (n = 2) or Lewis-Sumner syndrome (n = 1) on the basis of clinical features, laboratory data, electrophysiological investigations and nerve biopsies. Two patients who were clinically diagnosed with vasculitic neuropathy and one patient who was clinically diagnosed with chronic inflammatory demyelinating polyradiculoneuropathy were not confirmed by nerve biopsy. Nerve biopsies confirmed clinical diagnosis in 78.6% of the patients (11/14). Nerve biopsy pathological diagnosis is crucial to the etiological diagnosis of multiple mononeuropathy.

  4. Application of a cell microarray chip system for accurate, highly sensitive, and rapid diagnosis for malaria in Uganda

    PubMed Central

    Yatsushiro, Shouki; Yamamoto, Takeki; Yamamura, Shohei; Abe, Kaori; Obana, Eriko; Nogami, Takahiro; Hayashi, Takuya; Sesei, Takashi; Oka, Hiroaki; Okello-Onen, Joseph; Odongo-Aginya, Emmanuel I.; Alai, Mary Auma; Olia, Alex; Anywar, Dennis; Sakurai, Miki; Palacpac, Nirianne MQ; Mita, Toshihiro; Horii, Toshihiro; Baba, Yoshinobu; Kataoka, Masatoshi

    2016-01-01

    Accurate, sensitive, rapid, and easy operative diagnosis is necessary to prevent the spread of malaria. A cell microarray chip system including a push column for the recovery of erythrocytes and a fluorescence detector was employed for malaria diagnosis in Uganda. The chip with 20,944 microchambers (105 μm width and 50 μm depth) was made of polystyrene. For the analysis, 6 μl of whole blood was employed, and leukocytes were practically removed by filtration through SiO2-nano-fibers in a column. Regular formation of an erythrocyte monolayer in each microchamber was observed following dispersion of an erythrocyte suspension in a nuclear staining dye, SYTO 21, onto the chip surface and washing. About 500,000 erythrocytes were analyzed in a total of 4675 microchambers, and malaria parasite-infected erythrocytes could be detected in 5 min by using the fluorescence detector. The percentage of infected erythrocytes in each of 41 patients was determined. Accurate and quantitative detection of the parasites could be performed. A good correlation between examinations via optical microscopy and by our chip system was demonstrated over the parasitemia range of 0.0039–2.3438% by linear regression analysis (R2 = 0.9945). Thus, we showed the potential of this chip system for the diagnosis of malaria. PMID:27445125

  5. Chronic intestinal pseudo-obstruction: clinical features, diagnosis, and therapy.

    PubMed

    De Giorgio, Roberto; Cogliandro, Rosanna F; Barbara, Giovanni; Corinaldesi, Roberto; Stanghellini, Vincenzo

    2011-12-01

    CIPO is the very “tip of the iceberg” of functional gastrointestinal disorders, being a rare and frequently misdiagnosed condition characterized by an overall poor outcome. Diagnosis should be based on clinical features, natural history and radiologic findings. There is no cure for CIPO and management strategies include a wide array of nutritional, pharmacologic, and surgical options which are directed to minimize malnutrition, promote gut motility and reduce complications of stasis (ie, bacterial overgrowth). Pain may become so severe to necessitate major analgesic drugs. Underlying causes of secondary CIPO should be thoroughly investigated and, if detected, treated accordingly. Surgery should be indicated only in a highly selected, well characterized subset of patients, while isolated intestinal or multivisceral transplantation is a rescue therapy only in those patients with intestinal failure unsuitable for or unable to continue with TPN/HPN. Future perspectives in CIPO will be directed toward an accurate genomic/proteomic phenotying of these rare, challenging patients. Unveiling causative mechanisms of neuro-ICC-muscular abnormalities will pave the way for targeted therapeutic options for patients with CIPO.

  6. Clinical features, diagnosis and management of maternally inherited diabetes and deafness (MIDD) associated with the 3243A>G mitochondrial point mutation.

    PubMed

    Murphy, R; Turnbull, D M; Walker, M; Hattersley, A T

    2008-04-01

    Maternally inherited diabetes and deafness (MIDD) affects up to 1% of patients with diabetes but is often unrecognized by physicians. It is important to make an accurate genetic diagnosis, as there are implications for clinical investigation, diagnosis, management and genetic counselling. This review summarizes the range of clinical phenotypes associated with MIDD; outlines the advances in genetic diagnosis and pathogenesis of MIDD; summarizes the published prevalence data and provides guidance on the clinical management of these patients and their families.

  7. Diaper dermatitis: clinical characteristics and differential diagnosis.

    PubMed

    Coughlin, Carrie C; Eichenfield, Lawrence F; Frieden, Ilona J

    2014-11-01

    A diverse group of diseases can cause skin conditions in the diaper area including those which are directly caused by diapers or the diaper environment, some which are not directly due to, but are worsened by, the wearing of diapers, and those which are independent of the presence of the diaper or its resulting environment. Many of these conditions are limited to this area of the skin, but others extend to skin outside this area, and some are signs of systemic disease. We review many of the important causes of eruptions in the diaper area and emphasize key points in the differential diagnosis.

  8. [Clinical importance and diagnosis of halitosis].

    PubMed

    Akos, Nagy; Zsolt, Brugoviczky; Péter, Novák; Gábor, Nagy

    2012-09-01

    The origin of halitosis comes from the Latin word "halitus" meaning 'breath, exhaled air', and in the Hungarian terminology it means bad and smelly breath. The human body emits a number of volatile molecules, which have a peculiar odour. Their presence is influenced by several factors, such as genetic, nutritional and psychological factors. Since bad breath belongs to taboo subjects, halitosis can often lead to social isolation. To determine the incidence of halitosis, an exact diagnosis is needed which sometimes predestinates the possible treatment as well. Investigators estimate the incidence about 50% in the whole population. The male/female ratio is the same and the incidence is growing with age. The diagnosis can be genuine halitosis, pseudo halitosis and halitophobia. We can divide the genuine type into physiological and pathophysiological subtypes. The cause of the halitosis usually can be found in the oral cavity. The volatile sulfur compounds (VSC) produced by some of the oral bacteria are responsible for its development. Only 10% of the causes are extraoral, mostly inflammation of airways or gastrointestinal disorders. The judgment of halitosis is based on three objective methods: the organoleptic, the sulphide monitoring and the gas cromatography methods. Since the origin of the halitosis is mainly the oral cavity, dentists should treat them. Beyond the dental treatments the enhancement of the oral hygiene, the continuous motivation and monitoring are also very important, such as the use of tongue cleansing and special anti-malodour rinses.

  9. Fiber diffraction of skin and nails provides an accurate diagnosis of malignancies

    SciTech Connect

    James, Veronica J.

    2009-10-21

    An early diagnosis of malignancies correlates directly with a better prognosis. Yet for many malignancies there are no readily available, noninvasive, cost-effective diagnostic tests with patients often presenting too late for effective treatment. This article describes for the first time the use of fiber diffraction patterns of skin or fingernails, using X-ray sources, as a biometric diagnostic method for detecting neoplastic disorders including but not limited to melanoma, breast, colon and prostate cancers. With suitable further development, an early low-cost, totally noninvasive yet reliable diagnostic test could be conducted on a regular basis in local radiology facilities, as a confirmatory test for other diagnostic procedures or as a mass screening test using suitable small angle X-ray beam-lines at synchrotrons.

  10. Accurate diagnosis of renal transplant rejection by indium-111 platelet imaging despite postoperative cyclosporin therapy

    SciTech Connect

    Collier, B.D.; Adams, M.B.; Kauffman, H.M.; Trembath, L.; Hoffmann, R.G.; Tisdale, P.L.; Rao, S.A.; Hellman, R.S.; Isitman, A.T.

    1988-08-01

    Previous reports indicate that In-111 platelet scintigraphy (IPS) is a reliable test for the early diagnosis of acute post-operative renal transplant rejection (TR). However, the recent introduction of cyclosporin for post-transplantation immunosuppression requires that the diagnostic efficacy of IPS once again be established. Therefore, a prospective IPS study of 73 post-operative renal transplant recipients was conducted. Fourty-nine patients received cyclosporin and 24 patients did not receive this drug. Between these two patient groups, there were no significant differences in the diagnostic sensitivities (0.86 vs 0.80) and specificities (0.93 vs 0.84) with which TR was identified. We conclude that during the first two weeks following renal transplantation the cyclosporin treatment regimen used at our institution does not limit the reliability of IPS as a test for TR.

  11. Evaluation and diagnosis of the hair loss patient: part I. History and clinical examination.

    PubMed

    Mubki, Thamer; Rudnicka, Lidia; Olszewska, Malgorzata; Shapiro, Jerry

    2014-09-01

    Hair loss (alopecia) is a common problem and is often a major source of distress for patients. The differential diagnosis of alopecia includes both scarring and nonscarring alopecias. In addition, many hair shaft disorders can produce hair shaft fragility, resulting in different patterns of alopecia. Therefore, an organized and systematic approach is needed to accurately address patients' complaints to achieve the correct diagnosis. Part 1 of this 2-part continuing medical education article on alopecia describes history taking and the clinical examination of different hair loss disorders. It also provides an algorithmic diagnostic approach based on the most recent knowledge about different types of alopecia.

  12. [Diabetes mellitus: clinical presentation and differential diagnosis of hyperglycemia in childhood and adolescence].

    PubMed

    Rubio Cabezas, O; Argente, J

    2012-11-01

    Diabetes mellitus is one of the most common chronic diseases in childhood. Despite being a clinical and etiopathogenically heterogeneous disorder, type 1 autoimmune diabetes accounts for more than 95% of cases in children. Recent advances have meant that a growing number of patients have been assigned to other subtypes of diabetes. In such cases, the correct diagnosis is facilitated by the fact that many of these rare causes of diabetes are associated with specific clinical syndromes or may present at a certain age. Many of them are also subsidiaries of molecular diagnosis. The aim of this review is to update the current knowledge in this field of pediatric diabetes, in an attempt to determine the most accurate diagnosis and its implications on appropriate treatment and prognosis.

  13. Clinical use of thermography in the diagnosis of soft tissue lesions

    PubMed Central

    Kobrossi, Toffy

    1984-01-01

    Thermography is a non-invasive method of recording and interpreting the distribution of surface temperature. First used clinically in the diagnosis of breast disease, thermography has been spreading steadily in a variety of diagnostic applications. Various investigators claim that thermography: 1) can document soft tissue injury, infection and inflammation, 2) has a place in pre-employment screening for back disorders and high risk backs, 3) is more sensitive than electromyography in the diagnosis of disc disease and radiculopathy, 4) is exceedingly more accurate than myelography in judging a patient’s disc problem, and 5) may be a useful supplement to present clinical methods for objectively documenting soft tissue trauma in the patient with low back pain. This review attempts to evaluate the state of thermography today and assess its value in the diagnosis of musculoskeletal pain. ImagesFigure 1

  14. Lateral Flow Rapid Test for Accurate and Early Diagnosis of Scrub Typhus: A Febrile Illness of Historically Military Importance in the Pacific Rim.

    PubMed

    Chao, Chien-Chung; Zhangm, Zhiwen; Weissenberger, Giulia; Chen, Hua-Wei; Ching, Wei-Mei

    2017-03-01

    Scrub typhus (ST) is an infection caused by Orientia tsutsugamushi. Historically, ST was ranked as the second most important arthropod-borne medical problem only behind malaria during World War II and the Vietnam War. The disease occurs mainly in Southeast Asia and has been shown to emerge and reemerge in new areas, implying the increased risk for U.S. military and civilian personnel deployed to these regions. ST can effectively be treated by doxycycline provided the diagnosis is made early, before the development of severe complications. Scrub Typhus Detect is a lateral flow rapid test based on a mixture of recombinant 56-kDa antigens with broad reactivity. The performance of this prototype product was evaluated against indirect immunofluorescence assay, the serological gold standard. Using 249 prospectively collected samples from Thailand, the sensitivity and specificity for IgM was found to be 100% and 92%, respectively, suggesting a high potential of this product for clinical use. This product will provide a user friendly, rapid, and accurate diagnosis of ST for clinicians to provide timely and accurate treatments of deployed personnel.

  15. [Clinical and radiological diagnosis of community-acquired pneumonia in adults].

    PubMed

    Gil D, Rodrigo; Fernández V, Patricia; Sabbagh P, Eduardo

    2005-01-01

    Community acquired pneumonia in adults is an acute disease characterized by worsening in general conditions, fever, chills, cough, mucopurulent sputum and dyspnea; associated with tachycardia, tachypnea, fever and focal signs in pulmonary examination. The probability of pneumonia in a patient with acute respiratory symptoms depends on the disease prevalence in the environment where it is acquired and on clinical features. It is estimated that pneumonia prevalence is 3-5% in patients with respiratory disease seen in outpatient facilities. Clinical diagnosis of pneumonia without radiological confirmation lacks specificity because clinical presentation (history and physical examination) does not allow to differentiate pneumonia from other acute respiratory diseases (upper respiratory infections, bronchitis, influenza). Diagnosis must be based in clinical-radiological findings: clinical history and physical examination suggest the presence of pulmonary infection but accurate diagnosis is established when chest X ray confirms the existence of pulmonary infiltrates. Clinical findings and chest X ray do not permit to predict with certainty the etiology of pulmonary infection. Radiology is useful to confirm clinical suspicion, it establishes pneumonia location, its extension and severity; furthermore, it allows differentiation between pneumonia and other diseases, to detect possible complications, and may be useful in follow up of high risk patients. The resolution of radiological infiltrates often ensues several weeks or months after clinical recovery, especially in the elderly and in multilobar pneumonia cared for in intensive care units.

  16. Usher syndrome: an effective sequencing approach to establish a genetic and clinical diagnosis.

    PubMed

    Lenarduzzi, S; Vozzi, D; Morgan, A; Rubinato, E; D'Eustacchio, A; Osland, T M; Rossi, C; Graziano, C; Castorina, P; Ambrosetti, U; Morgutti, M; Girotto, G

    2015-02-01

    Usher syndrome is an autosomal recessive disorder characterized by retinitis pigmentosa, sensorineural hearing loss and, in some cases, vestibular dysfunction. The disorder is clinically and genetically heterogeneous and, to date, mutations in 11 genes have been described. This finding makes difficult to get a precise molecular diagnosis and offer patients accurate genetic counselling. To overcome this problem and to increase our knowledge of the molecular basis of Usher syndrome, we designed a targeted resequencing custom panel. In a first validation step a series of 16 Italian patients with known molecular diagnosis were analysed and 31 out of 32 alleles were detected (97% of accuracy). After this step, 31 patients without a molecular diagnosis were enrolled in the study. Three out of them with an uncertain Usher diagnosis were excluded. One causative allele was detected in 24 out 28 patients (86%) while the presence of both causative alleles characterized 19 patients out 28 (68%). Sixteen novel and 27 known alleles were found in the following genes: USH2A (50%), MYO7A (7%), CDH23 (11%), PCDH15 (7%) and USH1G (2%). Overall, on the 44 patients the protocol was able to characterize 74 alleles out of 88 (84%). These results suggest that our panel is an effective approach for the genetic diagnosis of Usher syndrome leading to: 1) an accurate molecular diagnosis, 2) better genetic counselling, 3) more precise molecular epidemiology data fundamental for future interventional plans.

  17. [RDBH-method and big DyeTM terminator technology in accurate diagnosis of β-thalassemia and the allelic polymorphism of β-globin cluster].

    PubMed

    Akperova, G A

    2014-11-01

    IThe purpose of this study was to evaluate of the efficiency of RDBH-method and Big DyeTM Terminator technology in an accurate diagnosis of β-thalassemia and the allelic polymorphism of β-globin cluster. It was done a complete hematology analysis (HB, MCH, MCV, MCHC, RBC, Hct, HbA2, HbF, Serum iron, Serum ferritin at four children (males, 6-10 years old) and their parents. Molecular analysis included Reverse Dot-Blot Hybridization StripAssay (RDBH) and DNA sequencing on ABI PRISM Big DyeTM Terminator. Hematologic and molecular parameters were contradictory. The homozygosity for β0-thalassemia (β0IVS2.1[G>A] and β0codon 8[-AA]) at three boys with the mild clinical manifestation and heterozygosity of their parents for mutations, and the absence of β-globin mutations at parents and a boy who holds monthly transfusion was established by RDBH-analysis. DNA sequencing by technology Big DyeTM Terminator showed polymorphism at positions -551 and -521 of Cap5'-region (-650-250) - (AT)7(T)7 and (AT)8(T)5. Application of the integrated clinical-molecular approach is an ideal method for an accurate diagnosis, identification of asymptomatic carriers and a reduce of the risk of complications from β-thalassemia, moreover screening of γG-gene and the level of fetal hemoglobin in early childhood will help manage of β-thalassemia clinic and prevent heavy consequences of the disease.

  18. [Clinical presentation and diagnosis of epileptic auras].

    PubMed

    Barletova, E I; Kremenchugskaia, M R; Mukhin, K Iu; Glukhova, L Iu; Mironov, M B

    2012-01-01

    To define clinical presentations of visual auras and to reveal their clinical, encephalographic and neuroimaging correlates, we examined 23 patients, aged from 5 to 25 years (mean 14±6 years), with focal forms of epilepsy. Patients had visual auras regardless of the etiology of epilepsy which developed immediately before epileptic seizures or were isolated. Patients had simple or complex visual hallucinations, the former occurring more frequently, visual illusions and ictal amaurosis. Positive visual phenomena were noted more frequently than negative ones. In most of the patients, visual hallucinations were associated with the pathological activity in cortical occipital regions of the brain and, in some cases, in temporal and parietal regions. The different pathologies (developmental defects, post-ischemic, atrophic and other disturbances) identified by MRI were found in a half of patients.

  19. Optical assay for biotechnology and clinical diagnosis.

    PubMed

    Moczko, Ewa; Cauchi, Michael; Turner, Claire; Meglinski, Igor; Piletsky, Sergey

    2011-08-01

    In this paper, we present an optical diagnostic assay consisting of a mixture of environmental-sensitive fluorescent dyes combined with multivariate data analysis for quantitative and qualitative examination of biological and clinical samples. The performance of the assay is based on the analysis of spectrum of the selected fluorescent dyes with the operational principle similar to electronic nose and electronic tongue systems. This approach has been successfully applied for monitoring of growing cell cultures and identification of gastrointestinal diseases in humans.

  20. Comparison of PCR, culturing and Pap smear microscopy for accurate diagnosis of genital Actinomyces.

    PubMed

    Kaya, Dilek; Demirezen, Şayeste; Hasçelik, Gülşen; Gülmez Kivanç, Dolunay; Beksaç, Mehmet Sinan

    2013-05-01

    Members of the genus Actinomyces, Gram-positive, non-spore-forming anaerobic bacteria, are normal inhabitants of the mucosal surfaces of the oral, gastrointestinal and genital tracts. Identification of these bacteria using conventional methods is generally difficult because of their complex transport and growth requirements and their fastidious and slow-growing nature. However, in recent years, the advancement of molecular techniques has provided much improved identification and differentiation of closely related Actinomyces species. The aim of the present study was to evaluate the efficacy of the PCR technique in the diagnosis of genital Actinomyces in comparison with culturing and Papanicolaou (Pap) smear microscopy. Multiple sampling was conducted from 200 women using smear microscopy, culturing and PCR. Cyto-brushes were smeared on glass slides and stained using the routine Pap technique. Culturing was performed from a sterile swab, and Actinomyces were determined using the BBL Crystal ANR ID kit. PCR was performed from a second swab, and the Actinomyces type was determined using type-specific primers designed in our laboratory. Only one vaginal fluid sample (0.5%) revealed Actinomyces-like organisms on Pap smear examination. Actinomyces were detected in nine samples (4.5%) using the BBL Crystal ANR ID kit. Using PCR, eight samples (4%) were found positive for Actinomyces. No specimens that gave positive results by Pap smear microscopy and culturing could be confirmed by PCR. Pap smear microscopy and culturing were both found to have zero sensitivity for Actinomyces. PCR appears to be a sensitive and reliable diagnostic method for the detection of Actinomyces, which are difficult to cultivate from genital samples. PCR can be used for diagnostic confirmation in cases diagnosed by conventional methods, to prevent false-positive results.

  1. Etiology, diagnosis, and clinical management of vulvodynia

    PubMed Central

    Sadownik, Leslie A

    2014-01-01

    Chronic vulvar pain or discomfort for which no obvious etiology can be found, ie, vulvodynia, can affect up to 16% of women. It may affect girls and women across all age groups and ethnicities. Vulvodynia is a significant burden to society, the health care system, the affected woman, and her intimate partner. The etiology is multifactorial and may involve local injury or inflammation, and peripheral and or central sensitization of the nervous system. An approach to the diagnosis and management of a woman presenting with chronic vulvar pain should address the biological, psychological, and social/interpersonal factors that contribute to her illness. The gynecologist has a key role in excluding other causes for vulvar pain, screening for psychosexual and pelvic floor dysfunction, and collaborating with other health care providers to manage a woman’s pain. An important component of treatment is patient education regarding the pathogenesis of the pain and the negative impact of experiencing pain on a woman’s overall quality of life. An individualized, holistic, and often multidisciplinary approach is needed to effectively manage the woman’s pain and pain-related distress. PMID:24833921

  2. Diagnosis and management of extensive vascular malformations of the lower limb: part I. Clinical diagnosis.

    PubMed

    Redondo, Pedro; Aguado, Leyre; Martínez-Cuesta, Antonio

    2011-11-01

    There is significant confusion in the literature when describing vascular anomalies, and vascular malformations are often misnamed or incorrectly classified. Part I of this two-part series on the diagnosis and management of extensive vascular malformations of the lower limbs will discuss the dermatologist's role in the diagnosis of these lesions. At least nine types of vascular malformations with specific clinical and radiologic characteristics must be distinguished in the lower limbs: Klippel-Trénaunay syndrome, port-wine stain with or without hypertrophy, cutis marmorata telangiectatica congenita, macrocephaly-capillary malformation, Parkes Weber syndrome, Stewart-Bluefarb syndrome, venous malformation, glomuvenous malformation, and lymphatic malformation. This article highlights the differences in clinical appearance and discusses the differential diagnosis of extensive vascular malformations in an attempt to ensure earlier diagnosis and better outcomes for these patients.

  3. [Mitochondrial diseases: molecular mechanisms, clinical presentations and diagnosis investigations].

    PubMed

    Auré, Karine; Jardel, Claude; Lombès, Anne

    2005-09-01

    Mitochondrial diseases are relatively common inherited metabolic diseases due to mitochondrial respiratory chain dysfunction. Their clinical presentation is extremely diverse, multisystemic or confined to a single tissue, sporadic or transmitted, by maternal or mendelian inheritance. The diagnosis of mitochondrial disorders is difficult. It is based upon several types of clues both clinical (family history, type of symptoms but also their association in syndromic presentation,...) and biological (alteration of the lactate metabolism, brain imaging, morphological alterations especially of muscle tissue). The diagnosis relies upon the demonstration of a defect of the respiratory chain activities and/or upon the identification of the underlying genetic alteration. Molecular diagnosis remains quite difficult and up to-date concerns essentially mitochondrial DNA mutations. On one hand, clinical and biological presentations as well as enzymatic defects lack specificity. On the other hand, candidate genes are very numerous and part of them are probably still unknown.

  4. Probabilistic techniques for obtaining accurate patient counts in Clinical Data Warehouses.

    PubMed

    Myers, Risa B; Herskovic, Jorge R

    2011-12-01

    Proposal and execution of clinical trials, computation of quality measures and discovery of correlation between medical phenomena are all applications where an accurate count of patients is needed. However, existing sources of this type of patient information, including Clinical Data Warehouses (CDWs) may be incomplete or inaccurate. This research explores applying probabilistic techniques, supported by the MayBMS probabilistic database, to obtain accurate patient counts from a Clinical Data Warehouse containing synthetic patient data. We present a synthetic Clinical Data Warehouse, and populate it with simulated data using a custom patient data generation engine. We then implement, evaluate and compare different techniques for obtaining patients counts. We model billing as a test for the presence of a condition. We compute billing's sensitivity and specificity both by conducting a "Simulated Expert Review" where a representative sample of records are reviewed and labeled by experts, and by obtaining the ground truth for every record. We compute the posterior probability of a patient having a condition through a "Bayesian Chain", using Bayes' Theorem to calculate the probability of a patient having a condition after each visit. The second method is a "one-shot" approach that computes the probability of a patient having a condition based on whether the patient is ever billed for the condition. Our results demonstrate the utility of probabilistic approaches, which improve on the accuracy of raw counts. In particular, the simulated review paired with a single application of Bayes' Theorem produces the best results, with an average error rate of 2.1% compared to 43.7% for the straightforward billing counts. Overall, this research demonstrates that Bayesian probabilistic approaches improve patient counts on simulated patient populations. We believe that total patient counts based on billing data are one of the many possible applications of our Bayesian framework. Use of

  5. Moyamoya Disease: Epidemiology, Clinical Features, and Diagnosis

    PubMed Central

    Kim, Jong S.

    2016-01-01

    Moyamoya disease (MMD) is a chronic, occlusive cerebrovascular disease characterized by progressive stenosis at the terminal portion of the internal carotid artery and an abnormal vascular network at the base of the brain. Although its etiology remains unknown, recent genetic studies identified RNF213 in the 17q25-ter region as an important susceptibility gene of MMD among East Asian populations. Possibly because of genetic differences, MMD is relatively common in people living in East Asian countries such as Korea and Japan, compared to those in the Western Hemisphere. The prevalence of MMD appears to be slightly lower among Chinese, compared to Koreans or Japanese. There are two peaks of incidence with different clinical presentations, at around 10 years and 30-40 years. The peak appears to occur later in women than men. In children, ischemic symptoms, especially transient ischemic attacks, are predominant. Intellectual decline, seizures, and involuntary movements are also more common in this age group. In contrast, adult patients present with intracranial hemorrhage more often than pediatric patients. In patients with MMD, intracerebral hemorrhage is more often accompanied by intraventricular hemorrhage than in patients with hypertensive intracerebral hemorrhage. These different age peaks and different clinical presentations in each age group are also observed in MMD patients in the USA. Catheter angiography is the diagnostic method of choice. Magnetic resonance (MR) angiography and computed tomographic angiography are noninvasive diagnostic methods. High-resolution vessel wall MR imaging also helps diagnose MMD by revealing concentric vessel wall narrowing with basal collaterals. PMID:26846755

  6. Air Embolism: Diagnosis, Clinical Management and Outcomes

    PubMed Central

    McCarthy, Colin J.; Behravesh, Sasan; Naidu, Sailendra G.; Oklu, Rahmi

    2017-01-01

    Air embolism is a rare but potentially fatal complication of surgical procedures. Rapid recognition and intervention is critical for reducing morbidity and mortality. We retrospectively characterized our experience with air embolism during medical procedures at a tertiary medical center. Electronic medical records were searched for all cases of air embolism over a 25-year period; relevant medical and imaging records were reviewed. Sixty-seven air embolism cases were identified; the mean age was 59 years (range, 3–89 years). Ninety-four percent occurred in-hospital, of which 77.8% were during an operation/invasive procedure. Vascular access-related procedures (33%) were the most commonly associated with air embolism. Clinical signs and symptoms were related to the location the air embolus; 36 cases to the right heart/pulmonary artery, 21 to the cerebrum, and 10 were attributed to patent foramen ovale (PFO). Twenty-one percent of patients underwent hyperbaric oxygen therapy (HBOT), 7.5% aspiration of the air, and 63% had no sequelae. Mortality rate was 21%; 69% died within 48 hours. Thirteen patients had immediate cardiac arrest where mortality rate was 53.8%, compared to 13.5% (p = 0.0035) in those without. Air emboli were mainly iatrogenic, primarily associated with endovascular procedures. High clinical suspicion and early treatment are critical for survival. PMID:28106717

  7. Accuracy in the clinical diagnosis of parkinsonian syndromes.

    PubMed Central

    Gibb, W. R.

    1988-01-01

    This review of Parkinson's disease and related disorders emphasizes the difficulties of distinguishing between variants of the parkinsonian syndrome. Characteristic clinical features may remain absent for many months, but accuracy of diagnosis may be improved by considering certain presenting symptoms and signs. The main characteristics of various parkinsonian syndromes are reviewed and their major distinguishing features are emphasized. Future improvement in the precision of clinical diagnosis, especially early in the course of parkinsonian syndromes, will depend on selecting out patients with Parkinson's disease using positive diagnostic criteria. PMID:3059338

  8. The clinical manifestations, diagnosis, and treatment of adrenal emergencies.

    PubMed

    Tucci, Veronica; Sokari, Telematé

    2014-05-01

    Emergency medicine physicians should be able to identify and treat patients whose clinical presentations, including key historical, physical examination, and laboratory findings are consistent with diagnoses of primary, secondary, and tertiary adrenal insufficiency, adrenal crisis, and pheochromocytoma. Failure to make a timely diagnosis leads to increased morbidity and mortality. As great mimickers, adrenal emergencies often present with a constellation of nonspecific signs and symptoms that can lead even the most diligent emergency physician astray. The emergency physician must include adrenal emergencies in the differential diagnosis when encountering such clinical pictures.

  9. Clostridium difficile: clinical disease and diagnosis.

    PubMed Central

    Knoop, F C; Owens, M; Crocker, I C

    1993-01-01

    Clostridium difficile is an opportunistic pathogen that causes a spectrum of disease ranging from antibiotic-associated diarrhea to pseudomembranous colitis. Although the disease was first described in 1893, the etiologic agent was not isolated and identified until 1978. Since clinical and pathological features of C. difficile-associated disease are not easily distinguished from those of other gastrointestinal diseases, including ulcerative colitis, chronic inflammatory bowel disease, and Crohn's disease, diagnostic methods have relied on either isolation and identification of the microorganism or direct detection of bacterial antigens or toxins in stool specimens. The current review focuses on the sensitivity, specificity, and practical use of several diagnostic tests, including methods for culture of the etiologic agent, cellular cytotoxicity assays, latex agglutination tests, enzyme immunoassay systems, counterimmunoelectrophoresis, fluorescent-antibody assays, and polymerase chain reactions. PMID:8358706

  10. [Proposal of criteria for clinical diagnosis of mild cognitive impairment, dementia and Alzheimer's disease].

    PubMed

    Robles, A; Del Ser, T; Alom, J; Peña-Casanova, J

    2002-01-01

    The most widely accepted criteria for Alzheimer's disease (AD) diagnosis (NINCDS-ADRDA and DSM-IV) do not allow to differentiate accurately between AD and other degenerative dementias which have recently formulated criteria for its clinical diagnosis. Therefore, it is necessary to bring AD diagnostic criteria up to date in order to optimise their specificity, by assessing its most specific clinical manifestations, its most representative markers and those features typical of other diseases which are usually taken into account for a differential diagnosis. According to the latest reports on the subject, the disturbances suffered by memory, behaviour and the rest of cognitive and executive functions must be equally considered when establishing the syndromic diagnosis of dementia; this will always require the coexistence of an evident functional impairment. Due to this, the concepts of "dementia" and "mild cognitive impairment" should be clearly distinguished. For the time being, AD can only be diagnosed when dementia has been proved and this shows a series of cognitive, behavioural and neurological features which are representative of it. Nevertheless, some diagnostic markers appear to be precocious and specific enough to try to identify those patients who suffer from mild cognitive impairment due to an incipient stage of AD. We are suggesting some criteria for the clinical diagnosis of dementia, mild cognitive impairment and AD that seem to be more detail

  11. Utilization of multiple real-time PCR assays for the diagnosis of Bordetella spp. in clinical specimens.

    PubMed

    Tatti, Kathleen M; Tondella, Maria Lucia

    2013-01-01

    Bordetella pertussis causes an upper respiratory infection in infants, adolescents, and adults. Diagnosis of pertussis, a vaccine-preventable disease, can be difficult, but recent implementation of real-time PCR assays in laboratories has hastened the ability of clinicians to make an accurate diagnosis. In this paper we describe the method of nasopharyngeal specimen collection, extraction of DNA, and real-time PCR assays that will allow the detection and identification of Bordetella spp. in clinical specimens.

  12. Diagnosis and investigation in the severe asthma clinic.

    PubMed

    Wark, Peter A B; Hew, Mark; Maltby, Steven; McDonald, Vanessa M; Gibson, Peter G

    2016-01-01

    Severe asthma is recognised as an important and emerging area of unmet need in asthma. The assessment of severe asthma should include three steps; (1) determining the diagnosis of asthma, including verification that the disease is severe asthma, (2) assessing comorbidities and contributing factors that will impact on clinical severity, as well as (3) assessing asthma phenotypes. These steps recognize the importance of heterogeneity in asthma as a key factor that determines the disease course and increasingly the choice of successful therapy. This assessment should be undertaken systematically and is best done by an expert multidisciplinary team. Here, we will outline the important aspects that should be included in the clinical assessment of the patient in the severe asthma clinic, including diagnosis, clinical history, the assessment of important comorbidities and the key investigations needed to support them.

  13. Clinical approach to the diagnosis of congenital myopathies.

    PubMed

    North, Kathryn N

    2011-12-01

    In this issue of Seminars in Pediatric Neurology, each chapter will focus on the features and management of individual congenital myopathies. This introductory chapter will provide an overview of the clinical features that alert the clinician to the likely diagnosis of a congenital myopathy, and specific features on history and examination that are characteristic of a specific genetic subtype. Most congenital myopathies share a common pattern of clinical features, which makes it difficult to predict the genetic cause in a patient by clinical assessment alone. Although no single feature is specific for the congenital myopathies, the presence of this common pattern highlights patients in whom a muscle biopsy is likely to provide important diagnostic information. The diagnosis of a specific congenital myopathy should only be made when the defining morphologic feature is the predominant pathologic change, other possible causes have been excluded, and the clinical course is nonprogressive or only slowly progressive.

  14. Clinical presentation, diagnosis, and prognosis of chronic laminitis.

    PubMed

    Herthel, D; Hood, D M

    1999-08-01

    This article focuses on the initial assessment of the horse affected with chronic laminitis. Variations in the clinical presentation and primary considerations in making a differential diagnosis are included. The elements of a clinical history essential to sound, therapeutic management, and prognosis are summarized. The physical and radiographic assessment of the digital lesions and diagnostic approaches to the common systemic aspects of the disease are presented and discussed.

  15. A clinical decision support system with an integrated EMR for diagnosis of peripheral neuropathy.

    PubMed

    Kunhimangalam, Reeda; Ovallath, Sujith; Joseph, Paul K

    2014-04-01

    The prevalence of peripheral neuropathy in general population is ever increasing. The diagnosis and classification of peripheral neuropathies is often difficult as it involves careful clinical and electro-diagnostic examination by an expert neurologist. In developing countries a large percentage of the disease remains undiagnosed due to lack of adequate number of experts. In this study a novel clinical decision support system has been developed using a fuzzy expert system. The study was done to provide a solution to the demand of systems that can improve health care by accurate diagnosis in limited time, in the absence of specialists. It employs a graphical user interface and a fuzzy logic controller with rule viewer for identification of the type of peripheral neuropathy. An integrated medical records database is also developed for the storage and retrieval of the data. The system consists of 24 input fields, which includes the clinical values of the diagnostic test and the clinical symptoms. The output field is the disease diagnosis, whether it is Motor (Demyelinating/Axonopathy) neuropathy, sensory (Demyelinating/Axonopathy) neuropathy, mixed type or a normal case. The results obtained were compared with the expert's opinion and the system showed 93.27 % accuracy. The study aims at showing that Fuzzy Expert Systems may prove useful in providing diagnostic and predictive medical opinions. It enables the clinicians to arrive at a better diagnosis as it keeps the expert knowledge in an intelligent system to be used efficiently and effectively.

  16. [Minimal hepatic encephalopathy: characteristics, diagnosis and clinical implications].

    PubMed

    Torre Delgadillo, Aldo; Guerrero-Hernández, Ignacio; Uribe, Misael

    2006-01-01

    The term minimal hepatic encephalopathy (MHE) refers to the subtle changes in cognitive function, electrophysiological parameters, cerebral neurochemical/neurotransmitter homeostasis, cerebral blood flow, metabolism, and fluid homeostasis that can be observed in patients with cirrhosis who have no clinical evidence of hepatic encephalopathy; the prevalence is as high as 84% in patients with hepatic cirrhosis. This cirrhosis complication is generally not perceived by physician, and diagnosis can only be made by neuropsychological tests and other especial measurements like evoked potentials and image studies like positron emission tomography. Diagnosis of minimal hepatic encephalopathy may have prognostic and therapeutic implications in cirrhotic patients. The present review pretends to explore the clinic, therapeutic, diagnosis and prognostic aspects of this complication.

  17. Hopelessness, Depression, Suicidal Ideation, and Clinical Diagnosis of Depression.

    ERIC Educational Resources Information Center

    Beck, Aaron T.; And Others

    1993-01-01

    Examined relevance of clinical diagnosis of depression for explaining discrepant relationships of hopelessness and depression with suicidal ideation. Administered Beck Depression Inventory, Hopelessness Scale, and Scale for Suicide Ideation to 1,306 patients with mood disorder and 488 patients without mood disorder. Found that hopelessness was 1.3…

  18. Integrating Preclinical and Clinical Oral Diagnosis and Radiology.

    ERIC Educational Resources Information Center

    Rhodus, Nelson L.; Brand, John W.

    1988-01-01

    A program providing second-year dental students with early experience in direct patient contact in an oral diagnosis/oral radiology clinic was well received by both students and faculty and was found to develop desirable skills and qualities in the students participating. (MSE)

  19. Collagen, type XI, alpha 1: an accurate marker for differential diagnosis of breast carcinoma invasiveness in core needle biopsies.

    PubMed

    Freire, Javier; Domínguez-Hormaetxe, Saioa; Pereda, Saray; De Juan, Ana; Vega, Alfonso; Simón, Laureano; Gómez-Román, Javier

    2014-12-01

    Accurate diagnosis of invasive breast lesions, when analyzed by Core Needle Biopsy, may suppose a major challenge for the pathologist. Various markers of invasiveness such as laminin, S-100 protein, P63 or calponin have been described; however, none of them is completely reliable. The use of a specific marker of the infiltrating tumor microenvironment seems vital to support the diagnosis of invasive against in situ lesions. At this point, Collagen, type XI, alpha 1 (COL11A1), might be helpful since it has been described to be associated to cancer associated fibroblasts in other tumors such as lung, pancreas or colorectal. This paper aims to analyze the role of COL11A1 as a marker of invasiveness in breast tumor lesions. Two hundred and one breast Core Needle Biopsy samples were analyzed by immunohistochemistry against pro-COL11A1. The results show a significant difference (p < 0.0001) when comparing the expression in infiltrative tumors (93%) versus immunostaining of non-invasive lesions (4%). Forty cases of underestimated DCIS were also stained for COL11A1, presenting a sensitivity of 90% when compared with p63 and calponin which not tagged invasion. In conclusion, pro-COL11A1 expression is a promising marker of invasive breast lesions, and may be included in immunohistochemical panels aiming at identifying infiltration in problematic breast lesions.

  20. Application of PCR-based methods for diagnosis of intestinal parasitic infections in the clinical laboratory.

    PubMed

    Verweij, Jaco J

    2014-12-01

    For many years PCR- and other DNA-based methods of pathogen detection have been available in most clinical microbiology laboratories; however, until recently these tools were not routinely exploited for the diagnosis of parasitic infections. Laboratories were initially reluctant to implement PCR as incorporation of such assays within the algorithm of tools available for the most accurate diagnosis of a large variety of parasites was unclear. With regard to diagnosis of intestinal parasitic infections, the diversity of parasites that one can expect in most settings is far less than the parasitological textbooks would have you believe, hence developing a simplified diagnostic triage is feasible. Therefore the classical algorithm based on population, patient groups, use of immuno-suppressive drugs, travel history etc. is also applicable to decide when to perform and which additional techniques are to be used, if a multiplex PCR panel is used as a first-line screening diagnostic.

  1. [Lactose intolerance: pathophysiology, clinical symptoms, diagnosis and treatment].

    PubMed

    Hutyra, Tomasz; Iwańczak, Barbara

    2009-02-01

    Lactose malabsorption and milk products intolerance symptoms are the most common alimentary tract disorders. Lactose intolerance is a result of lactase deficiency or lack of lactase and lactose malabsorption. Three types of lactase deficiency were distinguished: congenital, late-onset lactase deficiency and secondary lactase deficiency. Lactose intolerance means the appearance of clinical gastrointestinal symptoms after ingestion of lactose. To the clinical symptoms of lactose intolerance belongs: nausea, vomiting, abdominal distension, cramps, flatulence, flatus, diarrhea and abdominal pain. The diagnosis of lactose intolerance is based on the breath hydrogen test and analysis of lactase activity in the small intestine mucosa. Dietary treatment eliminates clinical symptoms.

  2. Mutation databases for inherited renal disease: are they complete, accurate, clinically relevant, and freely available?

    PubMed

    Savige, Judy; Dagher, Hayat; Povey, Sue

    2014-07-01

    This study examined whether gene-specific DNA variant databases for inherited diseases of the kidney fulfilled the Human Variome Project recommendations of being complete, accurate, clinically relevant and freely available. A recent review identified 60 inherited renal diseases caused by mutations in 132 genes. The disease name, MIM number, gene name, together with "mutation" or "database," were used to identify web-based databases. Fifty-nine diseases (98%) due to mutations in 128 genes had a variant database. Altogether there were 349 databases (a median of 3 per gene, range 0-6), but no gene had two databases with the same number of variants, and 165 (50%) databases included fewer than 10 variants. About half the databases (180, 54%) had been updated in the previous year. Few (77, 23%) were curated by "experts" but these included nine of the 11 with the most variants. Even fewer databases (41, 12%) included clinical features apart from the name of the associated disease. Most (223, 67%) could be accessed without charge, including those for 50 genes (40%) with the maximum number of variants. Future efforts should focus on encouraging experts to collaborate on a single database for each gene affected in inherited renal disease, including both unpublished variants, and clinical phenotypes.

  3. [Clinical guideline for detection and diagnosis of hypertensive pregnancy disease].

    PubMed

    Lagunes-Espinosa, Alma Luisa; Ríos-Castillo, Brenda; Peralta-Pedrero, María Luisa; del Rocío Cruz-Cruz, Polita; Sánchez-Ambríz, Slivia; Sánchez-Santana, Joaquín Renato; Ramírez-Mota, Carolina; Zavaleta-Vargas, Norma Octavia; López-Cisneros, Gabriela

    2011-01-01

    Hypertensive disorders in pregnancy (HDP) are the main complication and cause of maternal and perinatal death. Pre-eclampsia represents a 34%, according to the Secretaría de Salud de México. To offer the family physicians tools for the opportune detection and diagnosis of HDP a clinical guideline was developmented. Clinical questions were formulated and structured. A standardized sequence to search for Practice Guidelines, based on the key words: hypertensive disorders in pregnancy, pre-eclampsia. Tripdatabase, MDConsult, National Guideline Clearinghouse, Scottish Intercollegiate Guidelines Network, National Institute for Health and Clinical Excellence were used. In addition, Cochrane Library Plus, Science Direct and OVID were used. Most of the recommendations were taken from guidelines selected and supplemented with the remaining material. The information is expressed in levels of evidence and grade of recommendation according to the characteristics of the study design and type of publications. To reduce morbidity and mortality from HDP health professionals should identify risk factors; conduct a close monitoring and early diagnosis. It is essential to provide information to the pregnant patient on alarm data and behavior to follow. This clinical practice guide offers current evidence for screening and diagnosis of HDP in primary care.

  4. Acquired haemophilia: Epidemiology, clinical presentation, diagnosis and treatment.

    PubMed

    Mingot-Castellano, Maria Eva; Núñez, Ramiro; Rodríguez-Martorell, Francisco Javier

    2017-04-07

    The development of circulating autoantibodies able to inhibit some coagulation proteins induces severe or even life-threatening bleeding. This disorder is called acquired haemophilia. This is a rare disease, although its impact may be underestimated because of the lack of records, the lack of knowledge by many specialists, the complexity of the laboratory diagnosis and, finally, because of the fulminant clinical presentation that often precludes diagnosis. Several studies established that mortality ranges between 9 and 33%. Not only haematologists but all physicians should be trained to follow the right steps to diagnose these patients as soon as possible in order to reduce such mortality rates. This review approaches the basic concepts dealing with the diagnosis and management of these patients and intends to assist physicians in identifying patients under suspicion of acquired haemophilia to correctly manage them and refer them to the appropriate Haemostasis Unit.

  5. Identification of Bile Duct Paucity in Alagille Syndrome: Using CK7 and EMA Immunohistochemistry as a Reliable Panel for Accurate Diagnosis.

    PubMed

    Herman, Haley K; Abramowsky, Carlos R; Caltharp, Shelley; Metry, Diana; Cundiff, Caitlin A; Romero, Rene; Gillespie, Scott E; Shehata, Bahig M

    2016-01-01

    Bile duct paucity is the absence or marked reduction in the number of interlobular bile ducts (ILBD) within portal tracts. Its syndromic variant, Alagille syndrome (ALGS), is a multisystem disorder with effects on the liver, cardiovascular system, skeleton, face, and eyes. It is inherited as an autosomal dominant trait due to defects in NOTCH signaling pathway. ALGS is characterized by vanishing ILBD with subsequent chronic obstructive cholestasis in approximately 89% of cases. Cholestasis stimulates formation of new bile ductules through a process of neoductular reaction, making it difficult to evaluate the presence or absence of ILBD. Therefore, finding a method to differentiate clearly between ILBD and the ductular proliferation is essential for accurate diagnosis. A database search identified 28 patients with confirmed diagnosis of ALGS between 1992 and 2014. Additionally, 7 controls were used. A panel of two immunostains, cytokeratin 7 (CK7) and epithelial membrane antigen (EMA), was performed. CK7 highlighted the bile duct epithelium of ILBD and ductular proliferation, while EMA stained only the brush border of ILBD. In our ALGS group, the ratio of EMA-positive ILBD to identified portal tracts was 12.6% (range, 0%-41%). However, this same ratio was 95.0% (range, 90%-100%) among control cases (P < 0.001). We propose a panel of two immunostains, CK7 and EMA, to differentiate ILBD from ductular proliferation in patients with cholestasis. With this panel, identification of bile duct paucity can be achieved. Additional studies, including molecular confirmation and clinical correlation, would provide a definitive diagnosis of ALGS.

  6. Intestinal Intraepithelial Lymphocyte Cytometric Pattern Is More Accurate than Subepithelial Deposits of Anti-Tissue Transglutaminase IgA for the Diagnosis of Celiac Disease in Lymphocytic Enteritis

    PubMed Central

    García-Puig, Roger; Rosinach, Mercè; González, Clarisa; Alsina, Montserrat; Loras, Carme; Salas, Antonio; Viver, Josep M.; Esteve, Maria

    2014-01-01

    Background & Aims An increase in CD3+TCRγδ+ and a decrease in CD3− intraepithelial lymphocytes (IEL) is a characteristic flow cytometric pattern of celiac disease (CD) with atrophy. The aim was to evaluate the usefulness of both CD IEL cytometric pattern and anti-TG2 IgA subepithelial deposit analysis (CD IF pattern) for diagnosing lymphocytic enteritis due to CD. Methods Two-hundred and five patients (144 females) who underwent duodenal biopsy for clinical suspicion of CD and positive celiac genetics were prospectively included. Fifty had villous atrophy, 70 lymphocytic enteritis, and 85 normal histology. Eight patients with non-celiac atrophy and 15 with lymphocytic enteritis secondary to Helicobacter pylori acted as control group. Duodenal biopsies were obtained to assess both CD IEL flow cytometric (complete or incomplete) and IF patterns. Results Sensitivity of IF, and complete and incomplete cytometric patterns for CD diagnosis in patients with positive serology (Marsh 1+3) was 92%, 85 and 97% respectively, but only the complete cytometric pattern had 100% specificity. Twelve seropositive and 8 seronegative Marsh 1 patients had a CD diagnosis at inclusion or after gluten free-diet, respectively. CD cytometric pattern showed a better diagnostic performance than both IF pattern and serology for CD diagnosis in lymphocytic enteritis at baseline (95% vs 60% vs 60%, p = 0.039). Conclusions Analysis of the IEL flow cytometric pattern is a fast, accurate method for identifying CD in the initial diagnostic biopsy of patients presenting with lymphocytic enteritis, even in seronegative patients, and seems to be better than anti-TG2 intestinal deposits. PMID:25010214

  7. [Clinical symptomps, diagnosis and therapy of feline allergic dermatitis].

    PubMed

    Favrot, C; Rostaher, A; Fischer, N

    2014-07-01

    Allergies are often suspected in cats and they are mainly hypersensitivity reactions against insect bites, food- or environmental allergens. Cats, with non flea induced atopic dermatitis, normally present with one oft he following reaction patterns: miliary dermatitis, eosinophilic dermatitis, selfinduced alopecia or head and neck excoriations. None of these reaction patterns is nevertheless pathognomonic for allergic dermatitis, therefore the diagnosis is based on the one hand on the exclusion of similar diseases on the other hand on the successful response on a certain therapy. Recently a study on the clinical presentation of cats with non flea induced atopic dermatitis was published. In this study certain criteria for diagnosing atopy in cats were proposed. For therapy of allergic cats cyclosporin, glucocorticoids, antihistamines, hypoallergenic diets and allergen specific immunotherapy are used. This article should provide a recent overview on the clinical symptoms, diagnosis and therapy of feline allergic dermatitis.

  8. [Differential diagnosis from hyperglycemic ketoacidosis: pesticide poisoning. Clinical case].

    PubMed

    Vélez, Paola; Paredes, Patricio; Fuenmayor, Frances

    2016-04-01

    Diabetic ketoacidosis in children causes serious morbidity and mortality, especially if it is not recognized on time in the initial diagnosis. However, there are other diseases that can appear to be a metabolic disorder of this kind and be ignored if it is not suspected. We present a clinical case with hyperglycemic ketoacidosis due to the contact with organophosphate; we had to use a continuous infusion of insulin to control the metabolic disorder without repercussions after the girl came home.

  9. Piriformis syndrome in fibromyalgia: clinical diagnosis and successful treatment.

    PubMed

    Siddiq, Md Abu Bakar; Khasru, Moshiur Rahman; Rasker, Johannes J

    2014-01-01

    Piriformis syndrome is an underdiagnosed extraspinal association of sciatica. Patients usually complain of deep seated gluteal pain. In severe cases the clinical features of piriformis syndrome are primarily due to spasm of the piriformis muscle and irritation of the underlying sciatic nerve but this mysterious clinical scenario is also described in lumbar spinal canal stenosis, leg length discrepancy, piriformis myofascial pain syndrome, following vaginal delivery, and anomalous piriformis muscle or sciatic nerve. In this paper, we describe piriformis and fibromyalgia syndrome in a 30-year-old young lady, an often missed diagnosis. We also focus on management of the piriformis syndrome.

  10. [Clinical research II. Studying the process (the diagnosis test)].

    PubMed

    Talavera, Juan O; Wacher-Rodarte, Niels H; Rivas-Ruiz, Rodolfo

    2011-01-01

    A diagnosis test is carried out to establish the presence of health or illness. In the latter it could grade the severity. Due to its importance in clinical decisions, the diagnosis test is evaluated by mathematical strategies. We estimate the sensitivity and specificity once we know the existence or not of the disease, but we act in the reverse direction; with the presence "X" test positive or negative we estimate the presence of the disease, therefore, we use the positive and negative predictive values. Mathematical strategy allow us to quantify the observation, but it requires judgment to determine the quality making use of a minimum of features: a) selection under the same criteria for cases and controls; b) the inclusion of the full spectrum of disease severity (from mild to the most serious, ensuring that all levels have an enough number of subjects); c) the interpretation of both, the gold standard and the new tool of diagnosis, it must be blind and conducted by experts; d) the interpretation of results should show us what is their application in everyday clinical practice; e) the reproducibility must be checked. Do not forget that usually, we treat only one patient at once, what enforce us to have full knowledge of the performance of the diagnostic test, and to consider all clinical aspects for its proper implementation.

  11. Primary biliary cirrhosis: Clinical and laboratory criteria for its diagnosis.

    PubMed

    Reshetnyak, Vasiliy Ivanovich

    2015-07-07

    Primary biliary cirrhosis (PBC) is a chronic progressive cholestatic granulomatous, and destructive inflammatory lesion of small intralobular and septal bile ducts, which is likely to be caused by an autoimmune mechanism with a the presence of serum antimitochondrial antibodies and a potential tendency to progress to cirrhosis. Despite the fact that the etiology of this disease has been unknown so far, there has been a considerable body of scientific evidence that can reveal the clinical and laboratory signs of PBC and the individual components of its pathogenesis and elaborate diagnostic criteria for the disease and its symptomatic therapy. Deficiencies in autoimmune tolerance are critical factors for the initiation and perpetuation of the disease. The purpose of this review is to summarize the data available in the literature and the author's findings on clinical and laboratory criteria for the diagnosis of PBC. This review describes the major clinical manifestations of the disease and the mechanisms of its development. It presents the immunological, biochemical, and morphological signs of PBC and their significance for its diagnosis. A great deal of novel scientific evidence for the problem of PBC has been accumulated. However, the inadequate efficiency of therapy for the disease lends impetus to the quest for its etiological factors and to further investigations of its pathogenetic mechanisms and, on this basis, to searches for new methods for its early diagnosis.

  12. [Artificial intelligence to assist clinical diagnosis in medicine].

    PubMed

    Lugo-Reyes, Saúl Oswaldo; Maldonado-Colín, Guadalupe; Murata, Chiharu

    2014-01-01

    Medicine is one of the fields of knowledge that would most benefit from a closer interaction with Computer studies and Mathematics by optimizing complex, imperfect processes such as differential diagnosis; this is the domain of Machine Learning, a branch of Artificial Intelligence that builds and studies systems capable of learning from a set of training data, in order to optimize classification and prediction processes. In Mexico during the last few years, progress has been made on the implementation of electronic clinical records, so that the National Institutes of Health already have accumulated a wealth of stored data. For those data to become knowledge, they need to be processed and analyzed through complex statistical methods, as it is already being done in other countries, employing: case-based reasoning, artificial neural networks, Bayesian classifiers, multivariate logistic regression, or support vector machines, among other methodologies; to assist the clinical diagnosis of acute appendicitis, breast cancer and chronic liver disease, among a wide array of maladies. In this review we shift through concepts, antecedents, current examples and methodologies of machine learning-assisted clinical diagnosis.

  13. Computer-aided diagnosis and artificial intelligence in clinical imaging.

    PubMed

    Shiraishi, Junji; Li, Qiang; Appelbaum, Daniel; Doi, Kunio

    2011-11-01

    Computer-aided diagnosis (CAD) is rapidly entering the radiology mainstream. It has already become a part of the routine clinical work for the detection of breast cancer with mammograms. The computer output is used as a "second opinion" in assisting radiologists' image interpretations. The computer algorithm generally consists of several steps that may include image processing, image feature analysis, and data classification via the use of tools such as artificial neural networks (ANN). In this article, we will explore these and other current processes that have come to be referred to as "artificial intelligence." One element of CAD, temporal subtraction, has been applied for enhancing interval changes and for suppressing unchanged structures (eg, normal structures) between 2 successive radiologic images. To reduce misregistration artifacts on the temporal subtraction images, a nonlinear image warping technique for matching the previous image to the current one has been developed. Development of the temporal subtraction method originated with chest radiographs, with the method subsequently being applied to chest computed tomography (CT) and nuclear medicine bone scans. The usefulness of the temporal subtraction method for bone scans was demonstrated by an observer study in which reading times and diagnostic accuracy improved significantly. An additional prospective clinical study verified that the temporal subtraction image could be used as a "second opinion" by radiologists with negligible detrimental effects. ANN was first used in 1990 for computerized differential diagnosis of interstitial lung diseases in CAD. Since then, ANN has been widely used in CAD schemes for the detection and diagnosis of various diseases in different imaging modalities, including the differential diagnosis of lung nodules and interstitial lung diseases in chest radiography, CT, and position emission tomography/CT. It is likely that CAD will be integrated into picture archiving and

  14. Biomarkers, Early Diagnosis, and Clinical Predictors of BPD

    PubMed Central

    Lal, Charitharth Vivek; Ambalavanan, Namasivayam

    2015-01-01

    Bronchopulmonary Dysplasia (BPD) continues to be an important source of morbidity and mortality in premature neonates. The phenotype of BPD is extremely variable, and diagnosis is a clinical operational definition. A number of clinical and laboratory biomarkers have been proposed for the early identification of infants at higher risk of this disease, to characterize disease activity and severity and for determination of prognosis. Clinical prediction models for BPD have been developed using birth weight, gestational age, indicators of respiratory illness severity, and other clinical variables. Other biomarkers of BPD include those based on imaging of the lungs, lung function measures, and measurements of various analytes in different body fluids (blood, tracheal aspirates, exhaled breath condensates, urine, etc). Novel systems biology ‘omic’ based approaches including but not limited to genomics, proteomics, metabolomics and microbiomics are required for evaluating the multiple interacting cellular and molecular networks that control lung development and injury in BPD. Here we present a critical evaluation of the biomarker approaches studied in the diagnosis of BPD and highlight the future avenues for research in this field. PMID:26593076

  15. Development and Evaluation of Reference Standards for Image-based Telemedicine Diagnosis and Clinical Research Studies in Ophthalmology

    PubMed Central

    Ryan, Michael C.; Ostmo, Susan; Jonas, Karyn; Berrocal, Audina; Drenser, Kimberly; Horowitz, Jason; Lee, Thomas C.; Simmons, Charles; Martinez-Castellanos, Maria-Ana; Chan, R.V. Paul; Chiang, Michael F.

    2014-01-01

    Information systems managing image-based data for telemedicine or clinical research applications require a reference standard representing the correct diagnosis. Accurate reference standards are difficult to establish because of imperfect agreement among physicians, and discrepancies between clinical vs. image-based diagnosis. This study is designed to describe the development and evaluation of reference standards for image-based diagnosis, which combine diagnostic impressions of multiple image readers with the actual clinical diagnoses. We show that agreement between image reading and clinical examinations was imperfect (689 [32%] discrepancies in 2148 image readings), as was inter-reader agreement (kappa 0.490-0.652). This was improved by establishing an image-based reference standard defined as the majority diagnosis given by three readers (13% discrepancies with image readers). It was further improved by establishing an overall reference standard that incorporated the clinical diagnosis (10% discrepancies with image readers). These principles of establishing reference standards may be applied to improve robustness of real-world systems supporting image-based diagnosis. PMID:25954463

  16. Development and Evaluation of Reference Standards for Image-based Telemedicine Diagnosis and Clinical Research Studies in Ophthalmology.

    PubMed

    Ryan, Michael C; Ostmo, Susan; Jonas, Karyn; Berrocal, Audina; Drenser, Kimberly; Horowitz, Jason; Lee, Thomas C; Simmons, Charles; Martinez-Castellanos, Maria-Ana; Chan, R V Paul; Chiang, Michael F

    2014-01-01

    Information systems managing image-based data for telemedicine or clinical research applications require a reference standard representing the correct diagnosis. Accurate reference standards are difficult to establish because of imperfect agreement among physicians, and discrepancies between clinical vs. image-based diagnosis. This study is designed to describe the development and evaluation of reference standards for image-based diagnosis, which combine diagnostic impressions of multiple image readers with the actual clinical diagnoses. We show that agreement between image reading and clinical examinations was imperfect (689 [32%] discrepancies in 2148 image readings), as was inter-reader agreement (kappa 0.490-0.652). This was improved by establishing an image-based reference standard defined as the majority diagnosis given by three readers (13% discrepancies with image readers). It was further improved by establishing an overall reference standard that incorporated the clinical diagnosis (10% discrepancies with image readers). These principles of establishing reference standards may be applied to improve robustness of real-world systems supporting image-based diagnosis.

  17. Arrhythmogenic right ventricular cardiomyopathy, clinical manifestations, and diagnosis.

    PubMed

    Haugaa, Kristina H; Haland, Trine F; Leren, Ida S; Saberniak, Jørg; Edvardsen, Thor

    2016-07-01

    This review aims to give an update on the pathogenesis, clinical manifestations, and diagnosis of arrhythmogenic right ventricular cardiomyopathy (ARVC). Arrhythmogenic right ventricular cardiomyopathy is mainly an autosomal dominant inherited disease linked to mutations in genes encoding desmosomes or desmosome-related proteins. Classic symptoms include palpitations, cardiac syncope, and aborted cardiac arrest due to ventricular arrhythmias. Heart failure may develop in later stages. Diagnosis is based on the presence of major and minor criteria from the Task Force Criteria revised in 2010 (TFC 2010), which includes evaluation of findings from six different diagnostic categories. Based on this, patients are classified as having possible, borderline, or definite ARVC. Imaging is important in ARVC diagnosis, including both echocardiography and cardiac magnetic resonance imaging for detecting structural and functional abnormalities, but importantly these findings may occur after electrical alterations and ventricular arrhythmias. Electrocardiograms (ECGs) and signal-averaged ECGs are analysed for depolarization and repolarization abnormalities, including T-wave inversions as the most common ECG alteration. Ventricular arrhythmias are common in ARVC and are considered a major diagnostic criterion if originating from the RV inferior wall or apex. Family history of ARVC and detection of an ARVC-related mutation are included in the TFC 2010 and emphasize the importance of family screening. Electrophysiological studies are not included in the diagnostic criteria, but may be important for differential diagnosis including RV outflow tract tachycardia. Further differential diagnoses include sarcoidosis, congenital abnormalities, myocarditis, pulmonary hypertension, dilated cardiomyopathy, and athletic cardiac adaptation, which may mimic ARVC.

  18. Clinical value of color doppler ultrasound in prenatal diagnosis of umbilical cord entry abnormity

    PubMed Central

    Sun, Jiandong; Wang, Li; Li, Yinghui

    2016-01-01

    Objective: To study the clinical value of prenatal diagnosis of umbilical cord entry abnormity (UCEA) by means of color Doppler ultrasound (CDUS). Methods: Clinical data of sixty-four cases with confirmed umbilical cord entry abnormity were reviewed and the specific UCEA conditions and the outcomes of perinatal infants were analyzed. Results: Detection rates of marginal umbilical cord entry abnormity and velamentous umbilical cord entry abnormity by means of CDUS at second trimester were 94.1% and 93.8% respecdtively much higher than 80.0% and 68.8% which were those of third trimester. Discrepancy had statistical significance (P<0.05). True positive rate of prenatal diagnosis of UCEA by means of CDUS was 85.9% (55/64), and false negative rate was 14.1% (9/64). Among sixty four patients with UCEA, seventeen patients (26.6%) underwent selective caesarean delivery; twenty-six patients (35.9%) underwent emergency caesarean delivery and twenty-four patients (37.5%) had normal delivery. Conclusion: Prenatal diagnosis of UCEA by means of CDUS is intuitive and accurate. It provides an evidence for determination of the best time to diagnose UCEA, and also offers a proper advice for pregnant women about delivery mode to ensure the fetus survival rate, which is clinically valuable. PMID:28083036

  19. Dependable and Efficient Clinical Molecular Diagnosis of Chinese RP Patient with Targeted Exon Sequencing

    PubMed Central

    Yin, Xiaobei; Dou, Hongliang; Zhao, Lin; Chen, Ningning; Zhang, Jinlu; Zhang, Huirong; Li, Genlin; Ma, Zhizhong

    2015-01-01

    Retinitis pigmentosa (RP) is the most common inherited retinal disease. It is a clinically and genetically heterogeneous disorder, which is why it is particularly challenging to diagnose. The aim of this study was to establish a targeted next-generation sequencing (NGS) approach for the comprehensive, rapid, and cost-effective clinical molecular diagnosis of RP. A specific hereditary eye disease enrichment panel (HEDEP) based on exome capture technology was used to collect the protein coding regions of 371 targeted hereditary eye disease genes, followed by high-throughput sequencing on the Illumina HiSeq2000 platform. From a cohort of 34 Chinese RP families, 13 families were successfully diagnosed; thus, the method achieves a diagnostic rate of approximately 40%. Of 16 pathogenic mutations identified, 11 were novel. Our study demonstrates that targeted capture sequencing offers a rapid and effective method for the molecular diagnosis of RP, which helps to provide a more accurate clinical diagnosis and paves the way for genetic counseling, family planning, and future gene-targeted treatment. PMID:26496393

  20. Dependable and Efficient Clinical Molecular Diagnosis of Chinese RP Patient with Targeted Exon Sequencing.

    PubMed

    Yang, Liping; Cui, Hui; Yin, Xiaobei; Dou, Hongliang; Zhao, Lin; Chen, Ningning; Zhang, Jinlu; Zhang, Huirong; Li, Genlin; Ma, Zhizhong

    2015-01-01

    Retinitis pigmentosa (RP) is the most common inherited retinal disease. It is a clinically and genetically heterogeneous disorder, which is why it is particularly challenging to diagnose. The aim of this study was to establish a targeted next-generation sequencing (NGS) approach for the comprehensive, rapid, and cost-effective clinical molecular diagnosis of RP. A specific hereditary eye disease enrichment panel (HEDEP) based on exome capture technology was used to collect the protein coding regions of 371 targeted hereditary eye disease genes, followed by high-throughput sequencing on the Illumina HiSeq2000 platform. From a cohort of 34 Chinese RP families, 13 families were successfully diagnosed; thus, the method achieves a diagnostic rate of approximately 40%. Of 16 pathogenic mutations identified, 11 were novel. Our study demonstrates that targeted capture sequencing offers a rapid and effective method for the molecular diagnosis of RP, which helps to provide a more accurate clinical diagnosis and paves the way for genetic counseling, family planning, and future gene-targeted treatment.

  1. Clinical relevance of molecular diagnosis in pet allergy.

    PubMed

    Uriarte, S A; Sastre, J

    2016-07-01

    We describe the pattern of sensitisation to pet IgE components and its association with clinical symptoms. Hundred and fifty nine consecutive patients with rhinitis/asthma sensitised to dog, cat, and horse were recruited. Specific IgE to whole extracts and to pet recombinant allergens were performed. Only 5% of patients were monosensitised to animal allergens. Specific IgE to Can f 1 was significantly associated with persistent rhinitis, Can f 2 with asthma diagnosis, Can f 3 with moderate/severe rhinitis (M/S-R) and asthma diagnosis (AD), and Can f 5 with persistent and M/S-R. Positive IgE to Fel d 2 was significantly associated with M/S-R and AD, Equ c 1 with M/S-R and Equ c 3 with persistent rhinitis, AD and severe asthma. Sensitisation to ≥2 molecules or to pet albumins was associated with more severe respiratory symptoms. Molecular diagnosis in patients with pet allergy may also help clinicians to predict clinical symptoms and their severity.

  2. Are clinical laboratories in California accurately reporting vancomycin-resistant enterococci?

    PubMed

    Rosenberg, J; Tenover, F C; Wong, J; Jarvis, W; Vugia, D J

    1997-10-01

    In order to determine whether hospital-based clinical laboratories conducting active surveillance for vancomycin-resistant enterococci in three San Francisco Bay area counties (San Francisco, Alameda, and Contra Costa counties) were accurately reporting vancomycin resistance, five vancomycin-resistant enterococcal strains and one vancomycin-susceptible beta-lactamase-producing enterococcus were sent to 31 of 32 (97%) laboratories conducting surveillance. Each strain was tested by the laboratory's routine antimicrobial susceptibility testing method. An Enterococcus faecium strain with high-level resistance to vancomycin (MIC, 512 microg/ml) was correctly reported as resistant by 100% of laboratories; an E. faecium strain with moderate-level resistance (MIC, 64 microg/ml) was correctly reported as resistant by 91% of laboratories; two Enterococcus faecalis strains with low-level resistance (MICs, 32 microg/ml) were correctly reported as resistant by 97 and 56% of laboratories, respectively. An Enterococcus gallinarum strain with intrinsic low-level resistance (MIC, 8 microg/ml) was correctly reported as intermediate by 50% of laboratories. A beta-lactamase-producing E. faecalis isolate was correctly identified as susceptible to vancomycin by 100% of laboratories and as resistant to penicillin and ampicillin by 68 and 44% of laboratories, respectively; all 23 (74%) laboratories that tested for beta-lactamase recognized that it was a beta-lactamase producer. This survey indicated that for clinically significant enterococcal isolates, laboratories in the San Francisco Bay area have problems in detecting low- to moderate-level but not high-level vancomycin resistance. Increasing accuracy of detection and prompt reporting of these isolates and investigation of cases are the next steps in the battle for control of the spread of vancomycin resistance.

  3. [Clinical laboratory diagnosis of trichomoniasis in patients with internal diseases].

    PubMed

    Siuch, N I; Riumin, D V; Lashenkova, N N

    2010-01-01

    Urogenital trichomoniasis is an infectious inflammatory disease of the urogenital system caused by protozoan Trichomonas vaginalis and characterized by rapid dissemination and development of complications. Because laboratory diagnosis by microscopic methods encounters difficulty, we undertook detection of T. vaginalis by microscopic study of native and stained (methylene blue, acridine orange, Gram, Romanovsky-Giemsa) uretheral scrapings. 69 patients having no clinical signs of the disease were examined after sexual contacts with women suffering infection of the urogenital tract. Staining with acridine orange and by Romanovsky-Giemsa method proved the most informative methods for diagnosis of torpid trichomoniasis (85.5 and 75.4% respectively). The study of native samples is of little informative value (5.8%). The data obtained were used to develop an algorithm of microscopic investigation for the examination of patients with urogenital acute, subacute or chronic trichomoniasis and carriers of T. vaginalis.

  4. A novel, integrated PET-guided MRS technique resulting in more accurate initial diagnosis of high-grade glioma.

    PubMed

    Kim, Ellen S; Satter, Martin; Reed, Marilyn; Fadell, Ronald; Kardan, Arash

    2016-06-01

    Glioblastoma multiforme (GBM) is the most common and lethal malignant glioma in adults. Currently, the modality of choice for diagnosing brain tumor is high-resolution magnetic resonance imaging (MRI) with contrast, which provides anatomic detail and localization. Studies have demonstrated, however, that MRI may have limited utility in delineating the full tumor extent precisely. Studies suggest that MR spectroscopy (MRS) can also be used to distinguish high-grade from low-grade gliomas. However, due to operator dependent variables and the heterogeneous nature of gliomas, the potential for error in diagnostic accuracy with MRS is a concern. Positron emission tomography (PET) imaging with (11)C-methionine (MET) and (18)F-fluorodeoxyglucose (FDG) has been shown to add additional information with respect to tumor grade, extent, and prognosis based on the premise of biochemical changes preceding anatomic changes. Combined PET/MRS is a technique that integrates information from PET in guiding the location for the most accurate metabolic characterization of a lesion via MRS. We describe a case of glioblastoma multiforme in which MRS was initially non-diagnostic for malignancy, but when MRS was repeated with PET guidance, demonstrated elevated choline/N-acetylaspartate (Cho/NAA) ratio in the right parietal mass consistent with a high-grade malignancy. Stereotactic biopsy, followed by PET image-guided resection, confirmed the diagnosis of grade IV GBM. To our knowledge, this is the first reported case of an integrated PET/MRS technique for the voxel placement of MRS. Our findings suggest that integrated PET/MRS may potentially improve diagnostic accuracy in high-grade gliomas.

  5. Congenital spinal dermal tract: how accurate is clinical and radiological evaluation?

    PubMed

    Tisdall, Martin M; Hayward, Richard D; Thompson, Dominic N P

    2015-06-01

    OBJECT A dermal sinus tract is a common form of occult spinal dysraphism. The presumed etiology relates to a focal failure of disjunction resulting in a persistent adhesion between the neural and cutaneous ectoderm. Clinical and radiological features can appear innocuous, leading to delayed diagnosis and failure to appreciate the implications or extent of the abnormality. If it is left untreated, complications can include meningitis, spinal abscess, and inclusion cyst formation. The authors present their experience in 74 pediatric cases of spinal dermal tract in an attempt to identify which clinical and radiological factors are associated with an infective presentation and to assess the reliability of MRI in evaluating this entity. METHODS Consecutive cases of spinal dermal tract treated with resection between 1998 and 2010 were identified from the departmental surgical database. Demographics, clinical history, and radiological and operative findings were collected from the patient records. The presence or absence of active infection (abscess, meningitis) at the time of neurosurgical presentation and any history of local sinus discharge or infection was assessed. Magnetic resonance images were reviewed to evaluate the extent of the sinus tract and determine the presence of an inclusion cyst. Radiological and operative findings were compared. RESULTS The surgical course was uncomplicated in 90% of 74 cases eligible for analysis. Magnetic resonance imaging underreported the presence of both an intradural tract (MRI 46%, operative finding 86%) and an intraspinal inclusion cyst (MRI 15%, operative finding 24%). A history of sinus discharge (OR 12.8, p = 0.0003) and the intraoperative identification of intraspinal inclusion cysts (OR 5.6, p = 0.023) were associated with an infective presentation. There was no significant association between the presence of an intradural tract discovered at surgery and an infective presentation. CONCLUSIONS Surgery for the treatment of

  6. Molecular and Clinical Diagnosis of Group A Streptococcal Pharyngitis in Children

    PubMed Central

    Faddoul, Diala; Sposto, Richard; Batoon, Kristine; Polanco, Claudia M.; Dien Bard, Jennifer

    2014-01-01

    Group A Streptococcus (GAS) pharyngitis is a very common condition causing significant morbidity in children. Accurate diagnosis followed by appropriate antimicrobial therapy is recommended to prevent postinfectious sequelae. Diagnosis of GAS pharyngitis by a rapid antigen detection test (RADT) or culture in the absence of discriminating clinical findings remains challenging. Validation of new sensitive rapid diagnostic tests is therefore a priority. The performance of a loop-mediated isothermal amplification (LAMP) assay (illumigene assay) for the diagnosis of GAS pharyngitis was compared with that of a RADT and standard culture in 361 pediatric throat swab samples. Discrepant results were resolved using an alternate molecular assay. Test results were correlated with clinical presentations in patients positive by either method. The closest estimate of the true prevalence of GAS pharyngitis was 19.7% (71/361 samples). The illumigene assay alone detected 70/71 GAS-positive samples; RADT and culture detected 35/71 and 55/71 samples, respectively. RADT followed by culture confirmation of RADT-negative specimens detected 58/71 cases. The illumigene assay increased identification among children eligible for testing by American College of Physicians (ACP)/American Academy of Family Physicians (AAFP) criteria from 31 to 39 positive cases, five of which were false positives. Analysis of clinical data in GAS-positive patients indicated that a significantly greater proportion of children with McIsaac scores of ≥4 tested positive by the illumigene assay versus RADT and culture. Overall, the illumigene assay was much more sensitive and was similarly specific for GAS detection, compared to culture alone, RADT alone, or the ACP/AAFP RADT/culture algorithm. Combining high sensitivity with rapidly available results, the illumigene GAS assay is an appropriate alternative to culture for the laboratory diagnosis of GAS pharyngitis in patients for whom testing is clinically

  7. Review of Clinical Presentation and Diagnosis of Mucopolysaccharidosis IVA

    PubMed Central

    Hendriksz, C.J.; Harmatz, P.; Beck, M.; Jones, S.; Wood, T.; Lachman, R.; Gravance, C.G.

    2013-01-01

    Mucopolysaccharidosis type IVA (MPS IVA) was described in 1929 by Luis Morquio from Uruguay and James Brailsford from England, and was later found as an autosomal recessive lysosomal storage disease. MPS IVA is caused by mutations in the gene encoding the enzyme, N-acetylgalactosamine-6-sulfate sulfatase (GALNS). Reduced GALNS activity results in impaired catabolism of two glycosaminoglycans (GAGs), chondroitin-6-sulfate (C6S) and keratan sulfate (KS). Clinical presentations of MPS IVA reflect a spectrum of progression from a severe ”classical” phenotype to a mild “attenuated” phenotype. More than 180 different mutations have been identified in the GALNS gene, which likely explains the phenotypic heterogeneity of the disorder. Accumulation of C6S and KS manifests predominantly as short stature and skeletal dysplasia (dysostosis multiplex), including atlantoaxial instability and cervical cord compression. However, abnormalities in the visual, auditory, cardiovascular, and respiratory systems can also affect individuals with MPS IVA. Diagnosis is typically based on clinical examination, skeletal radiographs, urinary GAG, and enzymatic activity of GALNS in blood cells or fibroblasts. Deficiency of GALNS activity is a common assessment for the laboratory diagnosis of MPS IVA; however, with recently increased availability, gene sequencing for MPS IVA is often used to confirm enzyme results. As multiple clinical presentations are observed, diagnosis of MPS IVA may require multi-system considerations. This review provides a history of defining MPS IVA and how the understanding of the disease manifestations has changed over time. A summary of the accumulated knowledge is presented, including information from the International Morquio Registry. The classical phenotype is contrasted with attenuated cases, which are now being recognized and diagnosed more frequently. Laboratory based diagnoses of MPS IVA are also discussed. PMID:23665161

  8. Review of clinical presentation and diagnosis of mucopolysaccharidosis IVA.

    PubMed

    Hendriksz, C J; Harmatz, P; Beck, M; Jones, S; Wood, T; Lachman, R; Gravance, C G; Orii, T; Tomatsu, S

    2013-01-01

    Mucopolysaccharidosis type IVA (MPS IVA) was described in 1929 by Luis Morquio from Uruguay and James Brailsford from England, and was later found as an autosomal recessive lysosomal storage disease. MPS IVA is caused by mutations in the gene encoding the enzyme, N-acetylgalactosamine-6-sulfate sulfatase (GALNS). Reduced GALNS activity results in impaired catabolism of two glycosaminoglycans (GAGs), chondroitin-6-sulfate (C6S) and keratan sulfate (KS). Clinical presentations of MPS IVA reflect a spectrum of progression from a severe "classical" phenotype to a mild "attenuated" phenotype. More than 180 different mutations have been identified in the GALNS gene, which likely explains the phenotypic heterogeneity of the disorder. Accumulation of C6S and KS manifests predominantly as short stature and skeletal dysplasia (dysostosis multiplex), including atlantoaxial instability and cervical cord compression. However, abnormalities in the visual, auditory, cardiovascular, and respiratory systems can also affect individuals with MPS IVA. Diagnosis is typically based on clinical examination, skeletal radiographs, urinary GAG, and enzymatic activity of GALNS in blood cells or fibroblasts. Deficiency of GALNS activity is a common assessment for the laboratory diagnosis of MPS IVA; however, with recently increased availability, gene sequencing for MPS IVA is often used to confirm enzyme results. As multiple clinical presentations are observed, diagnosis of MPS IVA may require multi-system considerations. This review provides a history of defining MPS IVA and how the understanding of the disease manifestations has changed over time. A summary of the accumulated knowledge is presented, including information from the International Morquio Registry. The classical phenotype is contrasted with attenuated cases, which are now being recognized and diagnosed more frequently. Laboratory based diagnoses of MPS IVA are also discussed.

  9. Colobronchial fistula: the pathogenesis, clinical presentations, diagnosis and treatment

    PubMed Central

    Zhao, Jinbo; Ma, Nan; Zhao, Zhengwei; Lei, Jie; Lu, Qiang; Tian, Feng; Zhou, Yongan

    2017-01-01

    Background Colobronchial fistula (CBF) is rare and easy to be delayed in clinic. There is no systemic study about this disease. The pathogenesis, clinical presentations, diagnosis and treatment of CBF were analyzed in this study. Methods The clinical data from 37 cases of CBF, which included one case in our institute and the other 36 cases in literature from January 1960 to August 2016, were reviewed and analyzed. The etiology, clinical presentations, diagnostic and therapeutic methods, and outcomes were summarized. Results The causes of CBF included Crohn’s disease, postoperative intraperitoneal adhesion, diaphragmatic hernia, pulmonary infection or abscess, colonic malignancy, colonic interposition, radiation, hyperthermic intraperitoneal chemotherapy (HIPEC), diaphragmatic mesh repair, pulmonary tuberculosis and pyonephrosis. Based on the anatomical location and the causes of fistula, CBF were divided into four types: type I, CBF secondary to the adhesion among colon, diaphragm and lung; type II, CBF secondary to diaphragmatic hernia; type III, CBF secondary to sub diaphragmatic abscess or emphysema; type VI, CBF secondary to colon interposition. The characteristic clinical presentations of CBF was productive cough with foul smelling sputum (78.38%), most of the patients were finally confirmed the diagnosis by barium enema or water-soluble contrast enema study (67.57%) and computer tomography (CT) scan/with multiplanar reconstruction (16.22%); 35 cases (94.59%) accepted the surgical treatment. Among 31 patients with recorded follow-up data, 26 patients recovered unevenly, but 5 patients died in 1 month after treatment. Conclusions CBF is a rare but can not be ignored disease. Anything which may induce the direct or indirect connection between colon and lung tissue may result in CBF. Productive cough with foul smelling sputum is the characteristic symptom. Radiological investigations such as barium enema and/or CT scan with multiplanar reconstruction are

  10. Myelitis and Lupus: Clinical Manifestations, Diagnosis and Treatment. Review.

    PubMed

    Chiganer, Edson Hernán; Hryb, Javier Pablo; Carnero Contentti, Edgar

    2016-08-23

    Systemic lupus erythematosus (SLE) is a chronic autoimmune disease that affects multiple systems. Myelopathy is one of 19 neuropsychiatric syndromes related to SLE defined by the American College of Rheumatology. Although infrequent, it is a severe manifestation, leading to motor and sensory deficits, and sphincter dysfunction. The pathogenesis is not clearly known, but may be related to arterial thrombosis and vasculitis. Diagnosis is based on clinical findings, laboratory tests and the use of gadolinium-enhanced magnetic resonance imaging. The standard therapy is the combination of intravenous cyclophosphamide and glucocorticoids. In refractory disease, other treatments such as plasmapheresis or rituximab have been used.

  11. [Clinical picture and differential diagnosis of the nephrotic crisis].

    PubMed

    Poliantseva, L P

    1985-01-01

    The nephrotic crisis, a grave complication of the nephrotic syndrome (NS) with a possible progress to the hypovolemic shock, was observed in 62 (6.2%) out of 1000 patients with the NS of different etiology (chronic glomerulonephritis, lupus nephritis, amyloidosis and other nephropathies). The main clinical symptoms of different stages of the nephrotic crisis are described, namely of the abdominal painful crisis, migrating erysipelas-like erythemas and the hypovolemic shock (collapse). The spectrum of diseases requiring the differential diagnosis with the nephrotic crisis is established. The complex of measures for the prophylaxis and treatment of the nephrotic crisis is proposed.

  12. Accurate diagnosis of myalgic encephalomyelitis and chronic fatigue syndrome based upon objective test methods for characteristic symptoms

    PubMed Central

    Twisk, Frank NM

    2015-01-01

    Although myalgic encephalomyelitis (ME) and chronic fatigue syndrome (CFS) are considered to be synonymous, the definitional criteria for ME and CFS define two distinct, partially overlapping, clinical entities. ME, whether defined by the original criteria or by the recently proposed criteria, is not equivalent to CFS, let alone a severe variant of incapacitating chronic fatigue. Distinctive features of ME are: muscle weakness and easy muscle fatigability, cognitive impairment, circulatory deficits, a marked variability of the symptoms in presence and severity, but above all, post-exertional “malaise”: a (delayed) prolonged aggravation of symptoms after a minor exertion. In contrast, CFS is primarily defined by (unexplained) chronic fatigue, which should be accompanied by four out of a list of 8 symptoms, e.g., headaches. Due to the subjective nature of several symptoms of ME and CFS, researchers and clinicians have questioned the physiological origin of these symptoms and qualified ME and CFS as functional somatic syndromes. However, various characteristic symptoms, e.g., post-exertional “malaise” and muscle weakness, can be assessed objectively using well-accepted methods, e.g., cardiopulmonary exercise tests and cognitive tests. The objective measures acquired by these methods should be used to accurately diagnose patients, to evaluate the severity and impact of the illness objectively and to assess the positive and negative effects of proposed therapies impartially. PMID:26140274

  13. Accurate diagnosis of myalgic encephalomyelitis and chronic fatigue syndrome based upon objective test methods for characteristic symptoms.

    PubMed

    Twisk, Frank Nm

    2015-06-26

    Although myalgic encephalomyelitis (ME) and chronic fatigue syndrome (CFS) are considered to be synonymous, the definitional criteria for ME and CFS define two distinct, partially overlapping, clinical entities. ME, whether defined by the original criteria or by the recently proposed criteria, is not equivalent to CFS, let alone a severe variant of incapacitating chronic fatigue. Distinctive features of ME are: muscle weakness and easy muscle fatigability, cognitive impairment, circulatory deficits, a marked variability of the symptoms in presence and severity, but above all, post-exertional "malaise": a (delayed) prolonged aggravation of symptoms after a minor exertion. In contrast, CFS is primarily defined by (unexplained) chronic fatigue, which should be accompanied by four out of a list of 8 symptoms, e.g., headaches. Due to the subjective nature of several symptoms of ME and CFS, researchers and clinicians have questioned the physiological origin of these symptoms and qualified ME and CFS as functional somatic syndromes. However, various characteristic symptoms, e.g., post-exertional "malaise" and muscle weakness, can be assessed objectively using well-accepted methods, e.g., cardiopulmonary exercise tests and cognitive tests. The objective measures acquired by these methods should be used to accurately diagnose patients, to evaluate the severity and impact of the illness objectively and to assess the positive and negative effects of proposed therapies impartially.

  14. Lymphoscintigraphy to confirm the clinical diagnosis of lymphedema

    SciTech Connect

    Golueke, P.J.; Montgomery, R.A.; Petronis, J.D.; Minken, S.L.; Perler, B.A.; Williams, G.M. )

    1989-09-01

    Confirmation of the diagnosis of lymphedema often requires lymphangiography, a procedure that is painful for the patient and technically demanding. Radioisotope lymphoscintigraphy is a relatively new technique that uses technetium 99 m antimony trisulfide colloid to produce a diagnostic image similar to a lymphangiogram. The procedure requires a single subcutaneous injection in the involved extremity, and images are obtained 3 hours later. It is technically easy to perform, produces minimal discomfort for the patient, and has no adverse effects. We have recently used radioisotope lymphoscintigraphy to evaluate 17 patients with extremity edema. These patients initially had a presumed diagnosis of lymphedema involving the upper or lower extremity. Lymphoscintigraphy confirmed the diagnosis of lymphedema in 12 (70.6%) patients. In five of the 17 patients (29.4%) the clinical impression of lymphedema was not supported by lymphoscintigraphy, leading to alternative diagnoses such as lipomatosis, venous insufficiency (two patients), congestive heart failure, and disuse edema. In all patients with secondary lymphedema the lymphatic system in the involved extremity could be partially visualized. Conversely, three of four patients with primary lymphedema had no ascent of the tracer from the foot and no lymphatic channels could be visualized. Lymphoscintigraphy is relatively easy to perform, safe, minimally invasive, and not uncomfortable for the patient. It is useful in differentiating lymphedema from other causes of extremity edema, allowing institution of appropriate therapy.

  15. Glucose: archetypal biomarker in diabetes diagnosis, clinical management and research.

    PubMed

    Krentz, Andrew J; Hompesch, Marcus

    2016-10-13

    The clinical utility of diabetes biomarkers can be considered in terms of diagnosis, management and prediction of long-term vascular complications. Glucose satisfies all of these requirements. Thresholds of hyperglycemia diagnostic of diabetes reflect inflections that confer a risk of developing long-term microvascular complications. Degrees of hyperglycemia (impaired fasting glucose, impaired glucose tolerance) that lie below the diagnostic threshold for diabetes identify individuals at risk of progression to diabetes and/or development of atherothrombotic cardiovascular disease. Self-measured glucose levels usefully complement hemoglobin A1c levels to guide daily management decisions. Continuous glucose monitoring provides detailed real-time data that is of value in clinical decision making, assessing response to new diabetes drugs and the development of closed-loop artificial pancreas technology.

  16. Environmental Enteric Dysfunction: Pathogenesis, Diagnosis, and Clinical Consequences

    PubMed Central

    Keusch, Gerald T.; Denno, Donna M.; Black, Robert E.; Duggan, Christopher; Guerrant, Richard L.; Lavery, James V.; Nataro, James P.; Rosenberg, Irwin H.; Ryan, Edward T.; Tarr, Phillip I.; Ward, Honorine; Bhutta, Zulfiqar A.; Coovadia, Hoosen; Lima, Aldo; Ramakrishna, Balakrishnan; Zaidi, Anita K. M.; Hay Burgess, Deborah C.; Brewer, Thomas

    2014-01-01

    Stunting is common in young children in developing countries, and is associated with increased morbidity, developmental delays, and mortality. Its complex pathogenesis likely involves poor intrauterine and postnatal nutrition, exposure to microbes, and the metabolic consequences of repeated infections. Acquired enteropathy affecting both gut structure and function likely plays a significant role in this outcome, especially in the first few months of life, and serve as a precursor to later interactions of infection and malnutrition. However, the lack of validated clinical diagnostic criteria has limited the ability to study its role, identify causative factors, and determine cost-effective interventions. This review addresses these issues through a historical approach, and provides recommendations to define and validate a working clinical diagnosis and to guide critical research in this area to effectively proceed. Prevention of early gut functional changes and inflammation may preclude or mitigate the later adverse vicious cycle of malnutrition and infection. PMID:25305288

  17. Congenital cytomegalovirus infection: Clinical presentation, epidemiology, diagnosis and prevention

    PubMed Central

    van Zuylen, Wendy J; Hamilton, Stuart T; Naing, Zin; Hall, Beverly; Shand, Antonia

    2014-01-01

    Cytomegalovirus is the most common congenital infection causing serious disease in infants. It is the leading infectious cause of sensorineural hearing loss and neurodevelopmental disability in developed countries. Despite the clinical importance of congenital cytomegalovirus, surveys show there is limited awareness and knowledge in the medical and general community about congenital cytomegalovirus infection. This article reviews the clinical features, global epidemiology, transmission and risk factors for cytomegalovirus infections. It also highlights several major advances made in recent years in the diagnosis and prevention of cytomegalovirus infection during pregnancy. Although research is ongoing, no therapy is currently proven to prevent or treat maternal, fetal or neonatal cytomegalovirus infection. Education of women regarding hygiene measures can help prevent cytomegalovirus infection and are currently the best strategy to prevent congenital cytomegalovirus disease. PMID:27512442

  18. Diagnosis and clinical features of trigemino-autonomic headaches.

    PubMed

    May, Arne

    2013-10-01

    Although severe short-lasting headaches are rare, they can be considered disabling conditions with a major impact on the quality of life of patients. These headaches can divided broadly in to those associated with autonomic symptoms, so called trigeminal autonomic cephalgias (TACs), and those with few or no autonomic symptoms. The TACs include cluster headache, paroxysmal hemicranias, hemicrania continua, and short-lasting unilateral neuralgiform headache attacks with cranial autonomic symptoms as well as short-lasting unilateral neuralgiform headache attacks with conjunctival injection and tearing syndrome. In all of these syndromes, half-sided head pain and ipsilateral cranial autonomic symptoms such as lacrimation or rhinorrhea are prominent. The paroxysmal hemicranias have, unlike cluster headaches, a very robust response to indomethacin, leading to a notion of indomethacin-sensitive headaches. The diagnosis of TACs is exclusively a clinical task. Because of the fact that cluster headache is strictly half-sided, typically involves the region around the eye and temple and often starts in the upper jaw, most patients first consult a dentist or ophthalmologist. No single instrumental examination has yet been able to define, or ensure, the correct diagnosis, or differentiate idiopathic headache syndromes. It is crucial that a trained neurologist sees these patients early so that management can be optimized and unnecessary procedures can be avoided. Although TACS are, in comparison to migraine, quite rare, they are nevertheless clinically very important for the neurologist to consider as they are easy to diagnose and the treatment is very effective in most patients.

  19. Ebola in children: epidemiology, clinical features, diagnosis and outcomes.

    PubMed

    Olupot-Olupot, Peter

    2015-03-01

    Ebola virus disease is caused by a highly contagious and pathogenic threadlike RNA virus of the Filoviridae family. The index human case is usually a zoonosis that launches human-to-human transmission interface with varying levels of sustainability of the epidemic depending on the level of public health preparedness of the affected country and the Ebola virus strain. The disease affects all age groups in the population. Clinical diagnosis is challenging in index cases especially in the early stages of the disease when the presenting features are usually nonspecific and only similar to a flu-like illness. However, in the agonal stages, hemorrhage frequently occurs in a high proportion of cases. The diagnostic gold standard is by detecting the antigen using reverse transcription-polymerase chain reaction. Mortality rates in the past 28 outbreaks since 1976 have ranged from 30% to 100% in different settings among adults, but lower mortality rates have been documented in children. This review aims to describe Ebola virus infection, clinical presentation, diagnosis and outcomes in children.

  20. Clinical significance of molecular diagnosis for gastric cancer lymph node micrometastasis

    PubMed Central

    Sonoda, Hiromichi; Tani, Tohru

    2014-01-01

    Advances in molecular diagnostic tools have allowed the identification of lymph node micrometastasis (LNM), including isolated tumor cells, in cancer patients. While immunohistochemistry and reverse transcription-polymerase chain reaction have been used to identify LNM in patients with gastric cancer, the clinical significance of this finding remains unclear. Recently, minimally invasive treatments, such as endoscopic submucosal dissection and laparoscopic surgery, are widely performed to help improve postsurgical quality of life (QOL). However, it is important to maintain the balance between QOL and curability when making treatments decision for patients with gastric cancer. If minimally invasive surgery based on accurate intraoperative LNM diagnosis was established, it could be performed safely. Therefore, we reviewed the clinical significance of LNM detected by molecular techniques as an important target for treatment decision making with gastric cancer patients. PMID:25320510

  1. Clinical symptoms and laboratory findings supporting early diagnosis of Crimean-Congo hemorrhagic fever in Iran.

    PubMed

    Mostafavi, Ehsan; Pourhossein, Behzad; Chinikar, Sadegh

    2014-07-01

    Crimean-Congo hemorrhagic fever (CCHF) is a zoonotic disease, which is usually transmitted to humans by tick bites or contact with blood or other infected tissues of livestock. Patients suffering from CCHF demonstrate an extensive spectrum of clinical symptoms. As it can take considerable time from suspecting the disease in hospital until reaching a definitive diagnosis in the laboratory, understanding the clinical symptoms and laboratory findings of CCHF patients is of paramount importance for clinicians. The data were collected from patients who were referred to the Laboratory of Arboviruses and Viral Hemorrhagic Fevers at the Pasteur institute of Iran with a primary diagnosis of CCHF between 1999 and 2012 and were assessed by molecular and serologic tests. Referred patients were divided into two groups: patients with a CCHF positive result and patients with a CCHF negative result. The laboratory and clinical findings of these two groups were then compared. Two-thousand five hundred thirty-six probable cases of CCHF were referred to the laboratory, of which 871 cases (34.3%) were confirmed to be CCHF. Contact with infected humans and animals increased the CCHF infection risk (P < 0.001). A tick bite was not a risk factor. Fever; bleeding, vomiting, leucopoenia, thrombocytopenia, and increases in alanine transaminase (ALT) and aspartate transaminase (AST) levels were also indicative of CCHF infection. Accurate and speedy diagnosis of CCHF and appropriate treatment play an important role in patient survival and the application of the findings of this study can prove helpful as a key for early diagnosis.

  2. Chromoblastomycosis: an overview of clinical manifestations, diagnosis and treatment.

    PubMed

    Queiroz-Telles, Flavio; Esterre, Phillippe; Perez-Blanco, Maigualida; Vitale, Roxana G; Salgado, Claudio Guedes; Bonifaz, Alexandro

    2009-02-01

    Chromoblastomycosis is one of the most frequent infections caused by melanized fungi. It is a subcutaneous fungal infection, usually an occupational related disease, mainly affecting individuals in tropical and temperate regions. Although several species are etiologic agents, Fonsecaea pedrosoi and Cladophialophora carrionii are prevalent in the endemic areas. Chromoblastomycosis lesions are polymorphic and must be differentiated from those associated with many clinical conditions. Diagnosis is confirmed by the observation of muriform cells in tissue and the isolation and the identification of the causal agent in culture. Chromoblastomycosis still is a therapeutic challenge for clinicians due to the recalcitrant nature of the disease, especially in the severe clinical forms. There are three treatment modalities, i.e., physical treatment, chemotherapy and combination therapy but their success is related to the causative agent, the clinical form and severity of the chromoblastomycosis lesions. There is no treatment of choice for this neglected mycosis, but rather several treatment options. Most of the patients can be treated with itraconazole, terbinafine or a combination of both. It is also important to evaluate the patient's individual tolerance of the drugs and whether the antifungal will be provided for free or purchased, since antifungal therapy must be maintained in long-term regimens. In general, treatment should be guided according to clinical, mycological and histopathological criteria.

  3. Marked overlap of four genetic syndromes with dyskeratosis congenita confounds clinical diagnosis

    PubMed Central

    Walne, Amanda J.; Collopy, Laura; Cardoso, Shirleny; Ellison, Alicia; Plagnol, Vincent; Albayrak, Canan; Albayrak, Davut; Kilic, Sara Sebnem; Patıroglu, Turkan; Akar, Haluk; Godfrey, Keith; Carter, Tina; Marafie, Makia; Vora, Ajay; Sundin, Mikael; Vulliamy, Thomas; Tummala, Hemanth; Dokal, Inderjeet

    2016-01-01

    Dyskeratosis congenita is a highly pleotropic genetic disorder. This heterogeneity can lead to difficulties in making an accurate diagnosis and delays in appropriate management. The aim of this study was to determine the underlying genetic basis in patients presenting with features of dyskeratosis congenita and who were negative for mutations in the classical dyskeratosis congenita genes. By whole exome and targeted sequencing, we identified biallelic variants in genes that are not associated with dyskeratosis congenita in 17 individuals from 12 families. Specifically, these were homozygous variants in USB1 (8 families), homozygous missense variants in GRHL2 (2 families) and identical compound heterozygous variants in LIG4 (2 families). All patients had multiple somatic features of dyskeratosis congenita but not the characteristic short telomeres. Our case series shows that biallelic variants in USB1, LIG4 and GRHL2, the genes mutated in poikiloderma with neutropenia, LIG4/Dubowitz syndrome and the recently recognized ectodermal dysplasia/short stature syndrome, respectively, cause features that overlap with dyskeratosis congenita. Strikingly, these genes also overlap in their biological function with the known dyskeratosis congenita genes that are implicated in telomere maintenance and DNA repair pathways. Collectively, these observations demonstrate the marked overlap of dyskeratosis congenita with four other genetic syndromes, confounding accurate diagnosis and subsequent management. This has important implications for establishing a genetic diagnosis when a new patient presents in the clinic. Patients with clinical features of dyskeratosis congenita need to have genetic analysis of USB1, LIG4 and GRHL2 in addition to the classical dyskeratosis congenita genes and telomere length measurements. PMID:27612988

  4. Diagnosis of MS: a comparison of three different clinical settings.

    PubMed

    Porter, B; Keenan, E; Record, E; Thompson, A J

    2003-10-01

    In order to compare a newly established diagnostic clinic with two existing clinical settings in the management of the diagnostic phase of multiple sclerosis (MS), a retrospective audit was performed over a 12-month period comparing the length of time, adherence to recently published standards and price charged in diagnosing MS in three different clinical diagnostic settings operating within the same hospital: a specifically designed demyelinating disease diagnostic clinic (DDC), a general neurology clinic (GNC) and an inpatient investigation unit (IIU). An audit tool was created to measure the standards advocated by the UK MS Society on management of the diagnostic phase of MS. The costing tool was the price charged to health authorities. A randomized retrospective case note and referral letter review method was used. The entry criterion was a confirmed diagnosis of MS documented in the medical notes following investigation during the period April 1999-April 2001. The time between referral and first appointment favoured the DDC with a mean time of 5.9 weeks, compared to 7.7 weeks for the GNC and 10.0 weeks for the IIU. The mean times between the first appointment and receipt of results were 4.7 weeks (DDC), 18.8 weeks (GNC) and 21.2 weeks (IIU). Prices ranged from pounds sterling 395-pounds sterling 790 (DDC), pounds sterling 95-pounds sterling 380 (GNC) and pounds sterling 1940-pounds sterling 2700 (IIU). This study suggests that the UK MS Society standards are achievable in most areas without excessive additional costs and provides evidence that the DDC offers a better service than other existing models.

  5. Clinical diagnosis versus autopsy findings in polytrauma fatalities

    PubMed Central

    2010-01-01

    Objectives The aim of the study was to determine if differences in clinical diagnosis versus autopsy findings concerning the cause of death in polytrauma fatalities would be detected in 19 cases of fatal polytrauma from a Level 1 trauma centre. Methods Clinical diagnoses determining the cause of death in 19 cases of fatal polytrauma (2007 - 2008) from a Level 1 trauma centre were correlated with autopsy findings. Results In 13 cases (68%), the clinical cause of death and the cause of death as determined by autopsy were congruent. Marginal differences occurred in three (16%) patients while obvious differences in interpreting the cause of death were found in another three (16%) cases. Five fatalities (three with obvious differences and two with marginal differences) were remarked as early death (1-4 h after trauma) and one fatality with marginal differences as late death (>1 week after trauma). Obvious and marginal discrepancies mostly occurred in the early phase of treatment, especially when severely injured patients were admitted to the emergency room undergoing continued cardiopulmonary resuscitation, i. e. limiting diagnostic procedures, and thus the clinical cause of death was essentially determined by basic emergency diagnostics. Conclusions Autopsy as golden standard to define the cause of death in fatal polytrauma varies from the clinical point of view, depending on the patient's pre-existing condition, mechanism of polytrauma, necessity of traumatic cardiopulmonary resuscitation, survival time, and thus the possibility to perform emergency diagnostics. An autopsy should be performed at least in cases of early fatal polytrauma to help establishing the definite cause of death. Moreover, autopsy data should be included in trauma registries as a quality assessment tool. PMID:20977732

  6. Clinical practice guideline on diagnosis and treatment of hyponatraemia.

    PubMed

    Spasovski, Goce; Vanholder, Raymond; Allolio, Bruno; Annane, Djillali; Ball, Steve; Bichet, Daniel; Decaux, Guy; Fenske, Wiebke; Hoorn, Ewout J; Ichai, Carole; Joannidis, Michael; Soupart, Alain; Zietse, Robert; Haller, Maria; van der Veer, Sabine; Van Biesen, Wim; Nagler, Evi

    2014-03-01

    Hyponatraemia, defined as a serum sodium concentration <135 mmol/l, is the most common disorder of body fluid and electrolyte balance encountered in clinical practice. It can lead to a wide spectrum of clinical symptoms, from subtle to severe or even life threatening, and is associated with increased mortality, morbidity and length of hospital stay in patients presenting with a range of conditions. Despite this, the management of patients remains problematic. The prevalence of hyponatraemia in widely different conditions and the fact that hyponatraemia is managed by clinicians with a broad variety of backgrounds have fostered diverse institution- and speciality-based approaches to diagnosis and treatment. To obtain a common and holistic view, the European Society of Intensive Care Medicine (ESICM), the European Society of Endocrinology (ESE) and the European Renal Association - European Dialysis and Transplant Association (ERA-EDTA), represented by European Renal Best Practice (ERBP), have developed the Clinical Practice Guideline on the diagnostic approach and treatment of hyponatraemia as a joint venture of three societies representing specialists with a natural interest in hyponatraemia. In addition to a rigorous approach to methodology and evaluation, we were keen to ensure that the document focused on patient-important outcomes and included utility for clinicians involved in everyday practice.

  7. Clinical practice guideline on diagnosis and treatment of hyponatraemia.

    PubMed

    Spasovski, Goce; Vanholder, Raymond; Allolio, Bruno; Annane, Djillali; Ball, Steve; Bichet, Daniel; Decaux, Guy; Fenske, Wiebke; Hoorn, Ewout J; Ichai, Carole; Joannidis, Michael; Soupart, Alain; Zietse, Robert; Haller, Maria; van der Veer, Sabine; Van Biesen, Wim; Nagler, Evi

    2014-04-01

    Hyponatraemia, defined as a serum sodium concentration <135 mmol/l, is the most common disorder of body fluid and electrolyte balance encountered in clinical practice. It can lead to a wide spectrum of clinical symptoms, from subtle to severe or even life threatening, and is associated with increased mortality, morbidity and length of hospital stay in patients presenting with a range of conditions. Despite this, the management of patients remains problematic. The prevalence of hyponatraemia in widely different conditions and the fact that hyponatraemia is managed by clinicians with a broad variety of backgrounds have fostered diverse institution- and speciality-based approaches to diagnosis and treatment. To obtain a common and holistic view, the European Society of Intensive Care Medicine (ESICM), the European Society of Endocrinology (ESE) and the European Renal Association - European Dialysis and Transplant Association (ERA-EDTA), represented by European Renal Best Practice (ERBP), have developed the Clinical Practice Guideline on the diagnostic approach and treatment of hyponatraemia as a joint venture of three societies representing specialists with a natural interest in hyponatraemia. In addition to a rigorous approach to methodology and evaluation, we were keen to ensure that the document focused on patient-important outcomes and included utility for clinicians involved in everyday practice.

  8. Prevalence, Clinical Presentation, and Differential Diagnosis of Pediatric Bipolar Disorder

    PubMed Central

    Goldstein, Benjamin I.; Birmaher, Boris

    2016-01-01

    Background Over the past 20 years, the evidence regarding pediatric bipolar disorder (BP) has increased substantially. As a result, recent concerns have focused primarily on prevalence and differential diagnosis. Method Selective review of the literature. Results BP as defined by rigorously applying diagnostic criteria has been observed among children and especially adolescents in numerous countries. In contrast to increasing diagnoses in clinical settings, prevalence in epidemiologic studies has not recently changed. BP-spectrum conditions among youth are highly impairing and confer high risk for conversion to BP-I and BP-II. Compared to adults, youth with BP have more mixed symptoms, more changes in mood polarity, are more often symptomatic and seem to have worse prognosis. The course, clinical characteristics, and comorbidities of BP among children and adolescents are in many ways otherwise similar to those of adults with BP. Nonetheless, many youth with BP receive no treatment and most do not receive BP-specific treatment. Conclusion Despite increased evidence supporting the validity of pediatric BP, discrepancies between clinical and epidemiologic findings suggest that diagnostic misapplication may be common. Simultaneously, low rates of treatment of youth with BP suggest that withholding of BP diagnoses may also be common. Clinicians should apply diagnostic criteria rigorously in order to optimize diagnostic accuracy and ensure appropriate treatment. PMID:22652925

  9. Neglected tropical diseases: diagnosis, clinical management, treatment and control.

    PubMed

    Utzinger, Jürg; Becker, Sören L; Knopp, Stefanie; Blum, Johannes; Neumayr, Andreas L; Keiser, Jennifer; Hatz, Christoph F

    2012-11-22

    Branded in 2005, "neglected tropical diseases" have gained traction in terms of advocacy, interest for research, enhanced funding and political will for their control and eventual elimination. Starting with an initial set of 13 neglected tropical diseases--seven helminth, three bacterial and three protozoal infections--the list considerably expanded to more than 40 diseases that now also includes viral, fungal and ectoparasitic infections. In this review, we provide a comprehensive overview of the neglected tropical diseases, their causative agents and the current geographical distribution, including their importance for the general practitioners seeing returning travellers and migrants in Switzerland. We characterise the most important of the neglected tropical diseases in terms of at-risk population, estimated number of infections, annual mortality rates and global burden, including current knowledge gaps. With an emphasis on neglected tropical diseases due to helminths, protozoa and ectoparasites, we review common diagnostic methods and current recommendations for treatment at the population level and the individual patient, thereby juxtaposing the situation in highly endemic countries on one side, with Switzerland on the other. We highlight the clinical presentation and management of the neglected tropical diseases in general and then elaborate on two examples, strongyloidiasis and leptospirosis. Our review provides a global perspective of neglected tropical diseases and we hope that it will prove useful for the general practitioner and clinician in Switzerland and elsewhere to enhance their suspicion index, differential diagnosis, clinical management and treatment, including referral to specialised clinics and laboratories when need be.

  10. Actinomycosis: etiology, clinical features, diagnosis, treatment, and management

    PubMed Central

    Valour, Florent; Sénéchal, Agathe; Dupieux, Céline; Karsenty, Judith; Lustig, Sébastien; Breton, Pierre; Gleizal, Arnaud; Boussel, Loïc; Laurent, Frédéric; Braun, Evelyne; Chidiac, Christian; Ader, Florence; Ferry, Tristan

    2014-01-01

    Actinomycosis is a rare chronic disease caused by Actinomyces spp., anaerobic Gram-positive bacteria that normally colonize the human mouth and digestive and genital tracts. Physicians must be aware of typical clinical presentations (such as cervicofacial actinomycosis following dental focus of infection, pelvic actinomycosis in women with an intrauterine device, and pulmonary actinomycosis in smokers with poor dental hygiene), but also that actinomycosis may mimic the malignancy process in various anatomical sites. Bacterial cultures and pathology are the cornerstone of diagnosis, but particular conditions are required in order to get the correct diagnosis. Prolonged bacterial cultures in anaerobic conditions are necessary to identify the bacterium and typical microscopic findings include necrosis with yellowish sulfur granules and filamentous Gram-positive fungal-like pathogens. Patients with actinomycosis require prolonged (6- to 12-month) high doses (to facilitate the drug penetration in abscess and in infected tissues) of penicillin G or amoxicillin, but the duration of antimicrobial therapy could probably be shortened to 3 months in patients in whom optimal surgical resection of infected tissues has been performed. Preventive measures, such as reduction of alcohol abuse and improvement of dental hygiene, may limit occurrence of pulmonary, cervicofacial, and central nervous system actinomycosis. In women, intrauterine devices must be changed every 5 years in order to limit the occurrence of pelvic actinomycosis. PMID:25045274

  11. Transplant renal artery stenosis: clinical manifestations, diagnosis and therapy.

    PubMed

    Chen, Wei; Kayler, Liise K; Zand, Martin S; Muttana, Renu; Chernyak, Victoria; DeBoccardo, Graciela O

    2015-02-01

    Transplant renal artery stenosis (TRAS) is a well-recognized vascular complication after kidney transplant. It occurs most frequently in the first 6 months after kidney transplant, and is one of the major causes of graft loss and premature death in transplant recipients. Renal hypoperfusion occurring in TRAS results in activation of the renin-angiotensin-aldosterone system; patients usually present with worsening or refractory hypertension, fluid retention and often allograft dysfunction. Flash pulmonary edema can develop in patients with critical bilateral renal artery stenosis or renal artery stenosis in a solitary kidney, and this unique clinical entity has been named Pickering Syndrome. Prompt diagnosis and treatment of TRAS can prevent allograft damage and systemic sequelae. Duplex sonography is the most commonly used screening tool, whereas angiography provides the definitive diagnosis. Percutaneous transluminal angioplasty with stent placement can be performed during angiography if a lesion is identified, and it is generally the first-line therapy for TRAS. However, there is no randomized controlled trial examining the efficacy and safety of percutaneous transluminal angioplasty compared with medical therapy alone or surgical intervention.

  12. Upper Cervical Epidural Abscess in Clinical Practice: Diagnosis and Management

    PubMed Central

    Al-Hourani, Khalid; Al-Aref, Rami; Mesfin, Addisu

    2015-01-01

    Study Design Narrative review. Objective Upper cervical epidural abscess (UCEA) is a rare surgical emergency. Despite increasing incidence, uncertainty remains as to how it should initially be managed. Risk factors for UCEA include immunocompromised hosts, diabetes mellitus, and intravenous drug use. Our objective is to provide a comprehensive overview of the literature including the history, clinical manifestations, diagnosis, and management of UCEA. Methods Using PubMed, studies published prior to 2015 were analyzed. We used the keywords “Upper cervical epidural abscess,” “C1 osteomyelitis,” “C2 osteomyelitis,” “C1 epidural abscess,” “C2 epidural abscess.” We excluded cases with tuberculosis. Results The review addresses epidemiology, etiology, imaging, microbiology, and diagnosis of this condition. We also address the nonoperative and operative management options and the relative indications for each as reviewed in the literature. Conclusion A high index of suspicion is required to diagnose this rare condition with magnetic resonance imaging being the imaging modality of choice. There has been a shift toward surgical management of this condition in recent times, with favorable outcomes. PMID:27190742

  13. Clinical application of multiple displacement amplification in preimplantation genetic diagnosis.

    PubMed

    Hellani, Ali; Coskun, Serdar; Tbakhi, Abdelghhani; Al-Hassan, Saad

    2005-03-01

    Multiple displacement amplification (MDA) is a technique used in the amplification of very small amounts of DNA. MDA is reported to yield large quantities of high-quality DNA. The applicability of MDA to single cells was recently demonstrated as a potential technique for preimplantation genetic diagnosis (PGD). This paper shows the first clinical application of MDA in PGD. Two cycles of PGD were performed in two diseases, resulting in two pregnancies. All the diagnoses given on blastomeres were confirmed on the non-transferred whole embryos. The blastomere diagnosis was coupled with short tandem repeat (STR) analysis (16 loci) in all cycles. Allelic drop-out (ADO) assessment and amplification efficiency were evaluated on 40 single lymphocytes derived from parents of each disease. ADO and amplification failure were 10.3 and 2.2% for beta-thalassaemia and 17.9 and 2.2% for cystic fibrosis respectively. HLA matching for A, B and DR was performed successfully on single cell for the beta-thalassaemia family using similar methods to genomic DNA. The PGD protocol used in all diseases consists of MDA amplification, followed by a standard polymerase chain reaction protocol. Although HLA matching was not applied to embryos, its feasibility was shown on single cell DNA amplified by MDA. Altogether, these data show the simplicity and reliability of performing PGD in combination with HLA matching and STR analysis using MDA.

  14. [Biochemical investigation for clinical diagnosis of drug dependence].

    PubMed

    Maeda, Hitoshi; Ishikawa, Takaki; Michiue, Tomomi

    2010-08-01

    Specific biochemical marker is not available for clinical diagnosis of drug dependence at present. However, drug abuse is accompanied by a decrease in serotonin and the derivative in cerebrospinal fluid, suggesting central serotonergic dysfunction, that is associated with cognitive deficits, alterations in sleep architecture and neuroendocrine function, and increased impulsivity as well as an increase in the risk for aggressive behavior toward the self involving suicide. For central stimulant abusers, elevated plasma catecholamine levels are associated with psychotic episodes and cardiovascular complications involving tachycardia and arrhythmias. Biochemical investigation is useful for predicting drug-induced mental disorders, complications and the prognosis, and also for differentiation from other mental disorders, e.g., secondary to metabolic and infectious diseases, or management of acute intoxication.

  15. X linked adrenoleukodystrophy: clinical presentation, diagnosis, and therapy

    PubMed Central

    van Geel, B. M; Assies, J.; Wanders, R.; Barth, P.

    1997-01-01

    X linked adrenoleukodystrophy (X-ALD) is an inherited disorder of peroxisomal metabolism, biochemically characterised by accumulation of saturated very long chain fatty acids. Accumulation of these fatty acids is associated with cerebral demyelination, peripheral nerve abnormalities, and adrenocortical and testicular insufficiency. The lowest estimated birth incidence is one per 100 000. At least six phenotypes can be distinguished, of which the two most frequent are childhood cerebral ALD and adrenomyeloneuropathy. The X-ALD gene has been identified, but thus far no relation between genotype and phenotype has been found. Diagnosis is relatively easy and can be confirmed reliably, and prenatal testing is possible in affected families. Several therapeutic options, some with promising perspectives, are available. Neurologists and other physicians seem not to be familiar with the many facets of X-ALD. In this review, the clinical presentation, the relative frequencies of the different phenotypes, and the diagnostic and therapeutic options are presented.

 PMID:9221959

  16. MUSCLE INJURY – PHYSIOPATHOLOGY, DIAGNOSIS, TREATMENT AND CLINICAL PRESENTATION

    PubMed Central

    Fernandes, Tiago Lazzaretti; Pedrinelli, André; Hernandez, Arnaldo José

    2015-01-01

    Skeletal muscle tissue has the largest mass in the human body, accounting for 45% of the total weight. Muscle injuries can be caused by bruising, stretching or laceration. The current classification divides such injuries into mild, moderate and severe. The signs and symptoms of grade I lesions are edema and discomfort; grade II, loss of function, gaps and possible ecchymosis; and grade III, complete rupture, severe pain and extensive hematoma. The diagnosis can be confirmed by: ultrasound, which is dynamic and cheap, but examiner dependent; and tomography or magnetic resonance, which gives better anatomical definition, but is static. Initial phase of the treatment can be summarized as the “PRICE” protocol. NSAIDs, ultrasound therapy, strengthening and stretching after the initial phase and range of motion without pain are used in clinical treatment. On the other hand, surgery has precise indications: hematoma drainage and muscle-tendon reinsertion and reinforcement. PMID:27047816

  17. ACG clinical guidelines: diagnosis and management of celiac disease.

    PubMed

    Rubio-Tapia, Alberto; Hill, Ivor D; Kelly, Ciarán P; Calderwood, Audrey H; Murray, Joseph A

    2013-05-01

    This guideline presents recommendations for the diagnosis and management of patients with celiac disease. Celiac disease is an immune-based reaction to dietary gluten (storage protein for wheat, barley, and rye) that primarily affects the small intestine in those with a genetic predisposition and resolves with exclusion of gluten from the diet. There has been a substantial increase in the prevalence of celiac disease over the last 50 years and an increase in the rate of diagnosis in the last 10 years. Celiac disease can present with many symptoms, including typical gastrointestinal symptoms (e.g., diarrhea, steatorrhea, weight loss, bloating, flatulence, abdominal pain) and also non-gastrointestinal abnormalities (e.g., abnormal liver function tests, iron deficiency anemia, bone disease, skin disorders, and many other protean manifestations). Indeed, many individuals with celiac disease may have no symptoms at all. Celiac disease is usually detected by serologic testing of celiac-specific antibodies. The diagnosis is confirmed by duodenal mucosal biopsies. Both serology and biopsy should be performed on a gluten-containing diet. The treatment for celiac disease is primarily a gluten-free diet (GFD), which requires significant patient education, motivation, and follow-up. Non-responsive celiac disease occurs frequently, particularly in those diagnosed in adulthood. Persistent or recurring symptoms should lead to a review of the patient's original diagnosis to exclude alternative diagnoses, a review of the GFD to ensure there is no obvious gluten contamination, and serologic testing to confirm adherence with the GFD. In addition, evaluation for disorders associated with celiac disease that could cause persistent symptoms, such as microscopic colitis, pancreatic exocrine dysfunction, and complications of celiac disease, such as enteropathy-associated lymphoma or refractory celiac disease, should be entertained. Newer therapeutic modalities are being studied in

  18. Diagnosis and management of familial Mediterranean fever: integrating medical genetics in a dedicated interdisciplinary clinic.

    PubMed

    Zadeh, Neda; Getzug, Terri; Grody, Wayne W

    2011-03-01

    Familial Mediterranean fever is an autosomal recessive genetic disorder characterized by recurrent febrile polyserositis, especially prevalent in individuals of Mediterranean descent. Familial Mediterranean fever can have nonspecific manifestations that mimic many common acquired disorders such as infections, acute appendicitis, cholecystitis, and arthritis, which can delay diagnosis for many years and subject patients to extensive evaluations and even unnecessary surgery. Untreated familial Mediterranean fever can result in serious complications such as end-stage renal disease and malabsorption secondary to amyloid deposition in the kidneys and digestive tract, male and female infertility, and growth retardation in children. These significant sequelae, along with the episodic acute attacks, are readily preventable by treatment with oral colchicine and underscore the necessity of early detection and treatment from a medical, psychosocial, and economic standpoint. We describe our comprehensive approach to the accurate diagnosis and effective management of this disorder by means of a dedicated familial Mediterranean fever clinic that incorporates medical genetics on equal footing with general medicine. In addition to providing the clinician with the presenting features of familial Mediterranean fever, methods of diagnosis including molecular testing, and current management based on our extensive experience with hundreds of affected individuals, we also advance this approach as a model for the incorporation of medical genetics practice into the more traditional domains of general medicine.

  19. Diagnosis of genital herpes simplex virus infection in the clinical laboratory

    PubMed Central

    2014-01-01

    Since the type of herpes simplex virus (HSV) infection affects prognosis and subsequent counseling, type-specific testing to distinguish HSV-1 from HSV-2 is always recommended. Although PCR has been the diagnostic standard method for HSV infections of the central nervous system, until now viral culture has been the test of choice for HSV genital infection. However, HSV PCR, with its consistently and substantially higher rate of HSV detection, could replace viral culture as the gold standard for the diagnosis of genital herpes in people with active mucocutaneous lesions, regardless of anatomic location or viral type. Alternatively, antigen detection—an immunofluorescence test or enzyme immunoassay from samples from symptomatic patients--could be employed, but HSV type determination is of importance. Type-specific serology based on glycoprotein G should be used for detecting asymptomatic individuals but widespread screening for HSV antibodies is not recommended. In conclusion, rapid and accurate laboratory diagnosis of HSV is now become a necessity, given the difficulty in making the clinical diagnosis of HSV, the growing worldwide prevalence of genital herpes and the availability of effective antiviral therapy. PMID:24885431

  20. Diagnosis of genital herpes simplex virus infection in the clinical laboratory.

    PubMed

    LeGoff, Jérôme; Péré, Hélène; Bélec, Laurent

    2014-05-12

    Since the type of herpes simplex virus (HSV) infection affects prognosis and subsequent counseling, type-specific testing to distinguish HSV-1 from HSV-2 is always recommended. Although PCR has been the diagnostic standard method for HSV infections of the central nervous system, until now viral culture has been the test of choice for HSV genital infection. However, HSV PCR, with its consistently and substantially higher rate of HSV detection, could replace viral culture as the gold standard for the diagnosis of genital herpes in people with active mucocutaneous lesions, regardless of anatomic location or viral type. Alternatively, antigen detection-an immunofluorescence test or enzyme immunoassay from samples from symptomatic patients--could be employed, but HSV type determination is of importance. Type-specific serology based on glycoprotein G should be used for detecting asymptomatic individuals but widespread screening for HSV antibodies is not recommended. In conclusion, rapid and accurate laboratory diagnosis of HSV is now become a necessity, given the difficulty in making the clinical diagnosis of HSV, the growing worldwide prevalence of genital herpes and the availability of effective antiviral therapy.

  1. Deterministic versus evidence-based attitude towards clinical diagnosis.

    PubMed

    Soltani, Akbar; Moayyeri, Alireza

    2007-08-01

    Generally, two basic classes have been proposed for scientific explanation of events. Deductive reasoning emphasizes on reaching conclusions about a hypothesis based on verification of universal laws pertinent to that hypothesis, while inductive or probabilistic reasoning explains an event by calculation of some probabilities for that event to be related to a given hypothesis. Although both types of reasoning are used in clinical practice, evidence-based medicine stresses on the advantages of the second approach for most instances in medical decision making. While 'probabilistic or evidence-based' reasoning seems to involve more mathematical formulas at the first look, this attitude is more dynamic and less imprisoned by the rigidity of mathematics comparing with 'deterministic or mathematical attitude'. In the field of medical diagnosis, appreciation of uncertainty in clinical encounters and utilization of likelihood ratio as measure of accuracy seem to be the most important characteristics of evidence-based doctors. Other characteristics include use of series of tests for refining probability, changing diagnostic thresholds considering external evidences and nature of the disease, and attention to confidence intervals to estimate uncertainty of research-derived parameters.

  2. [Clinical practice guideline. Diagnosis and treatment of postmenopausal and perinemopausia].

    PubMed

    Alvarado-García, Alberto; Hernández-Quijano, Tomás; Hernández-Valencia, Marcelino; Negrín-Pérez, Miriam Concepción; Ríos-Castillo, Brendha; Valencia-Pérez, Gregorio Urbano; Vital-Reyes, Víctor Saúl; Basavilvazo-Rodríguez, María Antonia; Torres-Arreola, Laura Pilar; Ortiz-Luna, Guillermo Federico; Sánchez-Aguirre, Fernando; Montaño-Uscanga, Armando

    2015-01-01

    Post-menopause is the period of life where a deep decline occurs in circulating estrogen levels, inducing the appearance of psycho and somatic symptoms. The classification to understand the chronology of reproductive aging in women (known as STRAW) determines the clinical and endocrine changes contemplating menstrual cycles, symptoms, measurements of FSH, LH, inhibin B, anti-Mullerian hormone , and follicular account. The diagnosis of menopause is established by the absence of menstruation for 12 months or more. The most frequent clinical manifestations of the climacteric syndrome transition to menopause are menstrual disorders, vasomotor symptoms (flushes and/or sweats) and genitourinary manifestations. The assessment of women in the peri- or postmenopause aims to develop: cervicovaginal cytology , lipid profile , serum glucose, basal Mammography at least a year before, pelvic ultrasound, urinalysis, serum TSH, Densitometry in patients older than 60 years if there is no recourse can be applied and FRAX. Drug therapy for the treatment of disorders of the transition to menopause or menopause is divided into: hormone therapy (HT) based estrogens and progestin hormone not being the most recommended the serotonin reuptake inhibitors and norepinephrine, clonidine, gabapentin or veralipride.

  3. Q-r curve of thermal tomography and its clinical application on breast tumor diagnosis

    PubMed Central

    Shi, Guilian; Han, Fei; Wang, Lin; Liang, Chengwen; Li, Kaiyang

    2015-01-01

    Heat is the product following the metabolism of cells, and the metabolism is closely related with the pathological information of living organism. So, there are strong ties between the heat distribution and the pathological state in living organism. In this paper, the mathematical function δ is introduced in the classical Pennes bio-heat transfer equation as the point heat source. By simplifying the boundary conditions, a novel bio-heat transfer model is established and solved in a spherical coordinate system. Based on the temperature distribution of human body surface, the information of heat source is mined layer by layer, and the corresponding q-r curve of heat intensity varying with depth is acquired combining the fitting method of Lorentz curve. According to a large number of clinical confirmed cases and statistics, the diagnostic criteria judging diseases by q-r curve are proposed. Five typical clinical practices are performed and four of the diagnosis results are very consistent with those of molybdenum target (MT) X-ray, B-ultrasonic images and pathological examination, one gives the result of early stage malignant tumor that MT X-ray and B-ultrasonic can’t check out. It is a radiation-free green method with noninvasive diagnostic procedure and accurate diagnosis result. PMID:25908998

  4. Cardio-facio-cutaneous syndrome: clinical features, diagnosis, and management guidelines.

    PubMed

    Pierpont, Mary Ella M; Magoulas, Pilar L; Adi, Saleh; Kavamura, Maria Ines; Neri, Giovanni; Noonan, Jacqueline; Pierpont, Elizabeth I; Reinker, Kent; Roberts, Amy E; Shankar, Suma; Sullivan, Joseph; Wolford, Melinda; Conger, Brenda; Santa Cruz, Molly; Rauen, Katherine A

    2014-10-01

    Cardio-facio-cutaneous syndrome (CFC) is one of the RASopathies that bears many clinical features in common with the other syndromes in this group, most notably Noonan syndrome and Costello syndrome. CFC is genetically heterogeneous and caused by gene mutations in the Ras/mitogen-activated protein kinase pathway. The major features of CFC include characteristic craniofacial dysmorphology, congenital heart disease, dermatologic abnormalities, growth retardation, and intellectual disability. It is essential that this condition be differentiated from other RASopathies, as a correct diagnosis is important for appropriate medical management and determining recurrence risk. Children and adults with CFC require multidisciplinary care from specialists, and the need for comprehensive management has been apparent to families and health care professionals caring for affected individuals. To address this need, CFC International, a nonprofit family support organization that provides a forum for information, support, and facilitation of research in basic medical and social issues affecting individuals with CFC, organized a consensus conference. Experts in multiple medical specialties provided clinical management guidelines for pediatricians and other care providers. These guidelines will assist in an accurate diagnosis of individuals with CFC, provide best practice recommendations, and facilitate long-term medical care.

  5. Cardio-Facio-Cutaneous Syndrome: Clinical Features, Diagnosis, and Management Guidelines

    PubMed Central

    Magoulas, Pilar L.; Adi, Saleh; Kavamura, Maria Ines; Neri, Giovanni; Noonan, Jacqueline; Pierpont, Elizabeth I.; Reinker, Kent; Roberts, Amy E.; Shankar, Suma; Sullivan, Joseph; Wolford, Melinda; Conger, Brenda; Santa Cruz, Molly; Rauen, Katherine A.

    2014-01-01

    Cardio-facio-cutaneous syndrome (CFC) is one of the RASopathies that bears many clinical features in common with the other syndromes in this group, most notably Noonan syndrome and Costello syndrome. CFC is genetically heterogeneous and caused by gene mutations in the Ras/mitogen-activated protein kinase pathway. The major features of CFC include characteristic craniofacial dysmorphology, congenital heart disease, dermatologic abnormalities, growth retardation, and intellectual disability. It is essential that this condition be differentiated from other RASopathies, as a correct diagnosis is important for appropriate medical management and determining recurrence risk. Children and adults with CFC require multidisciplinary care from specialists, and the need for comprehensive management has been apparent to families and health care professionals caring for affected individuals. To address this need, CFC International, a nonprofit family support organization that provides a forum for information, support, and facilitation of research in basic medical and social issues affecting individuals with CFC, organized a consensus conference. Experts in multiple medical specialties provided clinical management guidelines for pediatricians and other care providers. These guidelines will assist in an accurate diagnosis of individuals with CFC, provide best practice recommendations, and facilitate long-term medical care. PMID:25180280

  6. Q-r curve of thermal tomography and its clinical application on breast tumor diagnosis.

    PubMed

    Shi, Guilian; Han, Fei; Wang, Lin; Liang, Chengwen; Li, Kaiyang

    2015-04-01

    Heat is the product following the metabolism of cells, and the metabolism is closely related with the pathological information of living organism. So, there are strong ties between the heat distribution and the pathological state in living organism. In this paper, the mathematical function δ is introduced in the classical Pennes bio-heat transfer equation as the point heat source. By simplifying the boundary conditions, a novel bio-heat transfer model is established and solved in a spherical coordinate system. Based on the temperature distribution of human body surface, the information of heat source is mined layer by layer, and the corresponding q-r curve of heat intensity varying with depth is acquired combining the fitting method of Lorentz curve. According to a large number of clinical confirmed cases and statistics, the diagnostic criteria judging diseases by q-r curve are proposed. Five typical clinical practices are performed and four of the diagnosis results are very consistent with those of molybdenum target (MT) X-ray, B-ultrasonic images and pathological examination, one gives the result of early stage malignant tumor that MT X-ray and B-ultrasonic can't check out. It is a radiation-free green method with noninvasive diagnostic procedure and accurate diagnosis result.

  7. Targeted Next-Generation Sequencing for Clinical Diagnosis of 561 Mendelian Diseases

    PubMed Central

    Kong, Xiangdong; Guo, Xueqin; Sun, Yan; Man, Jianfen; Du, Lique; Zhu, Hui; Qu, Zelan; Tian, Ping; Mao, Bing; Yang, Yun

    2015-01-01

    Background Targeted next-generation sequencing (NGS) is a cost-effective approach for rapid and accurate detection of genetic mutations in patients with suspected genetic disorders, which can facilitate effective diagnosis. Methodology/Principal Findings We designed a capture array to mainly capture all the coding sequence (CDS) of 2,181 genes associated with 561 Mendelian diseases and conducted NGS to detect mutations. The accuracy of NGS was 99.95%, which was obtained by comparing the genotypes of selected loci between our method and SNP Array in four samples from normal human adults. We also tested the stability of the method using a sample from normal human adults. The results showed that an average of 97.79% and 96.72% of single-nucleotide variants (SNVs) in the sample could be detected stably in a batch and different batches respectively. In addition, the method could detect various types of mutations. Some disease-causing mutations were detected in 69 clinical cases, including 62 SNVs, 14 insertions and deletions (Indels), 1 copy number variant (CNV), 1 microdeletion and 2 microduplications of chromosomes, of which 35 mutations were novel. Mutations were confirmed by Sanger sequencing or real-time polymerase chain reaction (PCR). Conclusions/Significance Results of the evaluation showed that targeted NGS enabled to detect disease-causing mutations with high accuracy, stability, speed and throughput. Thus, the technology can be used for the clinical diagnosis of 561 Mendelian diseases. PMID:26274329

  8. Molecular diagnosis in clinical parasitology: when and why?

    PubMed

    Wong, Samson S Y; Fung, Kitty S C; Chau, Sandy; Poon, Rosana W S; Wong, Sally C Y; Yuen, Kwok-Yung

    2014-11-01

    Microscopic detection and morphological identification of parasites from clinical specimens are the gold standards for the laboratory diagnosis of parasitic infections. The limitations of such diagnostic assays include insufficient sensitivity and operator dependence. Immunoassays for parasitic antigens are not available for most parasitic infections and have not significantly improved the sensitivity of laboratory detection. Advances in molecular detection by nucleic acid amplification may improve the detection in asymptomatic infections with low parasitic burden. Rapidly accumulating genomic data on parasites allow the design of polymerase chain reaction (PCR) primers directed towards multi-copy gene targets, such as the ribosomal and mitochondrial genes, which further improve the sensitivity. Parasitic cell or its free circulating parasitic DNA can be shed from parasites into blood and excreta which may allow its detection without the whole parasite being present within the portion of clinical sample used for DNA extraction. Multiplex nucleic acid amplification technology allows the simultaneous detection of many parasitic species within a single clinical specimen. In addition to improved sensitivity, nucleic acid amplification with sequencing can help to differentiate different parasitic species at different stages with similar morphology, detect and speciate parasites from fixed histopathological sections and identify anti-parasitic drug resistance. The use of consensus primer and PCR sequencing may even help to identify novel parasitic species. The key limitation of molecular detection is the technological expertise and expense which are usually lacking in the field setting at highly endemic areas. However, such tests can be useful for screening important parasitic infections in asymptomatic patients, donors or recipients coming from endemic areas in the settings of transfusion service or tertiary institutions with transplantation service. Such tests can also

  9. Clinical presentation, diagnosis, and prognosis of chronic laminitis in North America.

    PubMed

    Hunt, Robert J; Wharton, Robin E

    2010-04-01

    Chronic laminitis involves laminar morphologic changes resulting in digital collapse and can vary greatly in its clinical manifestation depending on duration, severity of lameness, and stability of the distal phalanx/hoof wall interface. Accurate assessment of the whole patient is mandatory and consideration must be given to signalment, occupation, and owner expectations, as well as history and etiology, which often predict the broad course of the disease. Diagnosis is made via physical examination with adjunctive serial radiographic evaluation and possibly venography. Eventual functionality of the foot is determined by structural integrity, which is dictated by the degree of morphologic damage of the soft tissue and bone architecture of the foot. Structures involved include the digital vasculature, the laminar/hoof wall interface, and the distal phalanx. Patient outcome is largely determined by the degree of instability between the distal phalanx and hoof wall, and the ultimate prognosis is further influenced by owner expectation.

  10. [Piriformis muscle syndrome: etiology, pathogenesis, clinical manifestations, diagnosis, differential diagnosis and therapy].

    PubMed

    Grgić, Vjekoslav

    2013-01-01

    variations of PM and SN. In 5-6% of patients with low back pain and/or unilateral sciatica, the pain is caused by PM disorders. PS diagnosis can be made on the basis of anamnesis, clinical picture, clinical examination, EMNG, perisciatic anesthetic block of PM and radiological exams (pelvis/PM MRI; MR neurography of LS plexus and SN). PS therapy includes medicamentous therapy, physical therapy, kynesitherapy, acupuncture, therapeutic perisciatic blocks, botulinum toxin injections and surgical treatment (tenotomy of PM, neurolysis of SN).

  11. Evaluation of Clinical Diagnosis of Fetal Distress and Perinatal Outcome in a Low Resource Nigerian Setting

    PubMed Central

    Ibekwe, Perpetus Chudi; Onu, Fidelis Agwu; Onwe, Ogah Emeka; Ezeonu, Thecla Chinonyelum; Omeje, Innocent

    2016-01-01

    Introduction Fetal distress has been shown to contribute to the increasing caesarean section rate. There has been controversy on the usefulness of clinical diagnosis of fetal distress using only the intermittent counting of the fetal heart rate and/or passage of meconium-stained liquor. Aim To evaluate the clinical diagnosis of fetal distress and the perinatal outcome. Materials and Methods This was a retrospective study in which the case records of the patients, who were diagnosed of fetal distress at Federal Teaching Hospital, Abakaliki, Nigeria, from January 1, 2008 to December 31, 2014, were collated. The statistical analysis was done using the Statistical Package for Social Sciences version 17 software (SPSS Inc., Chicago IL, USA). Results Out of the 15,640 deliveries carried out within the study period, 3,761 (24.05%) deliveries were through caesarean section. A total of 326 (8.9%) of the 3,761 caesarean sections were due to fetal distress within the study period. More so, a total of 227 (70.9%) babies were born with ≥ 7 Apgar score at the 1st minute of delivery. The perinatal mortality rate was 31.25 per 1000 deliveries. Though birth asphyxia was recorded more on babies of mothers that had fresh meconium-stained liquor and whose decision-intervention interval was more than 30 minutes when compared with those without any of the two conditions, there was no statistical significant difference between them. Conclusion The clinical diagnosis of fetal distress is accurate in 29.1% of the cases. However, it has led to an unnecessary caesarean section in the remaining 70.9% of the parturients. In order to reduce this high trend of unnecessary caesarean sections due to clinical diagnosis of fetal distress in this environment, antepartum fetal assessment with non-stress test or biophysical profile and intrapartum use of continuous electronic fetal monitoring should be used to confirm or refute the fetal distress before any surgical intervention. Fetal blood sampling

  12. Polyallelic structural variants can provide accurate, highly informative genetic markers focused on diagnosis and therapeutic targets: Accuracy vs. Precision.

    PubMed

    Roses, A D

    2016-02-01

    Structural variants (SVs) include all insertions, deletions, and rearrangements in the genome, with several common types of nucleotide repeats including single sequence repeats, short tandem repeats, and insertion-deletion length variants. Polyallelic SVs provide highly informative markers for association studies with well-phenotyped cohorts. SVs can influence gene regulation by affecting epigenetics, transcription, splicing, and/or translation. Accurate assays of polyallelic SV loci are required to define the range and allele frequency of variable length alleles.

  13. Variability of the diagnosis of stroke by clinical judgement and by a scoring method

    PubMed Central

    Hatano, S.

    1976-01-01

    Existing criteria for the diagnosis of acute cerebrovascular disease (stroke) have not been satisfactory in epidemiological studies. Variability of the diagnosis of stroke, which had not been studied before, was investigated in a WHO collaborative study. Intra-observer and inter-observer variation of the diagnosis of stroke was studied by means of 45 case reports drawn at random from among those included in the study. Diagnosis of stroke and of the type of stroke was made by clinical judgement and by a scoring method. The clinical diagnosis of stroke was more consistent and more comparable than the diagnosis of the type of stroke. Inter-observer agreement in clinical diagnosis was improved by using the score method. PMID:1088403

  14. Clinical presentation and diagnosis of toxoplasmic encephalitis in Japan.

    PubMed

    Sakamoto, Naoya; Maeda, Takuya; Mikita, Kei; Kato, Yasuyuki; Yanagisawa, Naoki; Suganuma, Akihiko; Imamura, Akifumi; Nakamura-Uchiyama, Fukumi; Miyahira, Yasushi; Kawana, Akihiko; Ohnishi, Kenji; Ajisawa, Atsushi

    2014-10-01

    Distinguishing life-threatening toxoplasmic encephalitis (TE) from brain lymphoma in patients with acquired immunodeficiency syndrome (AIDS) may be difficult. Empiric anti-toxoplasmosis treatment is often initiated because of the reluctance in performing brain biopsies, which may delay the diagnosis and treatment of brain lymphoma in Japan. In this study, we retrospectively examined the clinical characteristics of 13 AIDS patients with TE in Japan, including magnetic resonance imaging and thallium 201 (201TI) single photon emission computed tomography (SPECT) findings, cerebral spinal fluid analysis, serology, and polymerase chain reaction (PCR) results. All patients improved on anti-toxoplasmosis treatment. Of the 11 patients who underwent serological testing, 6 (55%) had a positive serological result. Of the 7 patients who underwent PCR testing, 3 (42.9%) had a positive PCR result. Nine of 11 patients with TE (81.8%) had multiple lesions. Analysis of the sites of TE lesions did not reveal a difference in site predilection between TE and brain lymphoma. Uptake was negative in all 9 patients who underwent 201Tl SPECT. The study findings suggest that toxoplasma serostatus and PCR may be used to discriminate TE from brain lymphoma. No focal accumulation of 201TI is strongly suggestive of TE in patients with AIDS in Japan.

  15. C7 radiculopathy: importance of scapular winging in clinical diagnosis.

    PubMed

    Makin, G J; Brown, W F; Ebers, G C

    1986-06-01

    Lesions of the seventh cervical (C7) root are common and cause a readily recognised neurological syndrome. Recognition of this pattern is essential in differentiating C7 root lesions from lesions of the brachial plexus or peripheral nerves. Serratus anterior weakness is not generally included in this syndrome. We report six verified cases of C7 radiculopathy in which weakness of the serratus anterior was present in addition to the usual findings. This was manifest as winging of the scapula, when pushing forward against a wall, either with the hands at shoulder level or, in some cases, only when the hands were lowered to waist level. This latter method of testing places the muscle at a mechanical disadvantage and reveals partial paralysis. Analysis of this clinical finding complements anatomical evidence suggesting that the powerful lower digitations of the muscle may be primarily supplied by the C7 root in some cases. Scapular winging, apparent either in the usual position or the modified position described here, should be recognised as consistent with a diagnosis of C7 radiculopathy. When present, this sign serves to differentiate C7 radiculopathy from lesions of the brachial plexus or radial nerve.

  16. Pancreatic neuroendocrine tumors: clinical features, diagnosis and medical treatment: advances.

    PubMed

    Ito, Tetsuhide; Igarashi, Hisato; Jensen, Robert T

    2012-12-01

    Pancreatic neuroendocrine tumors (pNETs) comprise with gastrointestinal carcinoids, the main groups of gastrointestinal neuroendocrine tumors (GI-NETs). Although these two groups of GI-NETs share many features including histological aspects; over-/ectopic expression of somatostatin receptors; the ability to ectopically secrete hormones/peptides/amines which can result in distinct functional syndromes; similar approaches used for tumor localization and some aspects of treatment, it is now generally agreed they should be considered separate. They differ in their pathogenesis, hormonal syndromes produced, many aspects of biological behaviour and most important, in their response to certain anti-tumour treatment (chemotherapy, molecular targeted therapies). In this chapter the clinical features of the different types of pNETs will be considered as well as aspects of their diagnosis and medical treatment of the hormone-excess state. Emphasis will be on controversial areas or recent advances. The other aspects of the management of these tumors (surgery, treatment of advanced disease, tumor localization) are not dealt with here, because they are covered in other chapters in this volume.

  17. Pancreatic neuroendocrine tumors: clinical features, diagnosis and medical treatment: advances

    PubMed Central

    Ito, Tetsuhide; Igarashi, Hisato; Jensen, Robert T.

    2013-01-01

    Pancreatic neuroendocrine tumors (pNETs) comprise with gastrointestinal carcinoids, the main groups of gastrointestinal neuroendocrine tumors (GI-NETs). Although these two groups of GI-NETs share many features including histological aspects; over-/ectopic expression of somatostatin receptors; the ability to ectopically secrete hormones/peptides/amines which can result in distinct functional syndromes; similar approaches used for tumor localization and some aspects of treatment, it is now generally agreed they should be considered separate. They differ in their pathogenesis, hormonal syndromes produced, many aspects of biological behavior and most important, in their response to certain anti-tumor treatment (chemotherapy, molecular targeted therapies). In this chapter the clinical features of the different types of pNETs will be considered as well as aspects of their diagnosis and medical treatment of the hormone-excess state. Emphasis will be on controversial areas or recent advances. The other aspects of the management of these tumors (surgery, treatment of advanced disease, tumor localization) are not dealt with here, because they are covered in other chapters in this volume. PMID:23582916

  18. C7 radiculopathy: importance of scapular winging in clinical diagnosis.

    PubMed Central

    Makin, G J; Brown, W F; Ebers, G C

    1986-01-01

    Lesions of the seventh cervical (C7) root are common and cause a readily recognised neurological syndrome. Recognition of this pattern is essential in differentiating C7 root lesions from lesions of the brachial plexus or peripheral nerves. Serratus anterior weakness is not generally included in this syndrome. We report six verified cases of C7 radiculopathy in which weakness of the serratus anterior was present in addition to the usual findings. This was manifest as winging of the scapula, when pushing forward against a wall, either with the hands at shoulder level or, in some cases, only when the hands were lowered to waist level. This latter method of testing places the muscle at a mechanical disadvantage and reveals partial paralysis. Analysis of this clinical finding complements anatomical evidence suggesting that the powerful lower digitations of the muscle may be primarily supplied by the C7 root in some cases. Scapular winging, apparent either in the usual position or the modified position described here, should be recognised as consistent with a diagnosis of C7 radiculopathy. When present, this sign serves to differentiate C7 radiculopathy from lesions of the brachial plexus or radial nerve. Images PMID:3734820

  19. The clinical utility of QSM: disease diagnosis, medical management, and surgical planning.

    PubMed

    Eskreis-Winkler, Sarah; Zhang, Yan; Zhang, Jingwei; Liu, Zhe; Dimov, Alexey; Gupta, Ajay; Wang, Yi

    2017-04-01

    Quantitative susceptibility mapping (QSM) is an MR technique that depicts and quantifies magnetic susceptibility sources. Mapping iron, the dominant susceptibility source in the brain, has many important clinical applications. Herein, we review QSM applications in the diagnosis, medical management, and surgical treatment of disease. To assist in early disease diagnosis, QSM can identify elevated iron levels in the motor cortex of amyotrophic lateral sclerosis patients, in the substantia nigra of Parkinson's disease (PD) patients, in the globus pallidus, putamen, and caudate of Huntington's disease patients, and in the basal ganglia of Wilson's disease patients. Additionally, QSM can distinguish between hemorrhage and calcification, which could prove useful in tumor subclassification, and can measure microbleeds in traumatic brain injury patients. In guiding medical management, QSM can be used to monitor iron chelation therapy in PD patients, to monitor smoldering inflammation of multiple sclerosis (MS) lesions after the blood-brain barrier (BBB) seals, to monitor active inflammation of MS lesions before the BBB seals without using gadolinium, and to monitor hematoma volume in intracerebral hemorrhage. QSM can also guide neurosurgical treatment. Neurosurgeons require accurate depiction of the subthalamic nucleus, a tiny deep gray matter nucleus, prior to inserting deep brain stimulation electrodes into the brains of PD patients. QSM is arguably the best imaging tool for depiction of the subthalamic nucleus. Finally, we discuss future directions, including bone QSM, cardiac QSM, and using QSM to map cerebral metabolic rate of oxygen. Copyright © 2016 John Wiley & Sons, Ltd.

  20. DoctorEye: A Clinically Driven Multifunctional Platform, for Accurate Processing of Tumors in Medical Images

    PubMed Central

    Skounakis, Emmanouil; Farmaki, Christina; Sakkalis, Vangelis; Roniotis, Alexandros; Banitsas, Konstantinos; Graf, Norbert; Marias, Konstantinos

    2010-01-01

    This paper presents a novel, open access interactive platform for 3D medical image analysis, simulation and visualization, focusing in oncology images. The platform was developed through constant interaction and feedback from expert clinicians integrating a thorough analysis of their requirements while having an ultimate goal of assisting in accurately delineating tumors. It allows clinicians not only to work with a large number of 3D tomographic datasets but also to efficiently annotate multiple regions of interest in the same session. Manual and semi-automatic segmentation techniques combined with integrated correction tools assist in the quick and refined delineation of tumors while different users can add different components related to oncology such as tumor growth and simulation algorithms for improving therapy planning. The platform has been tested by different users and over large number of heterogeneous tomographic datasets to ensure stability, usability, extensibility and robustness with promising results. Availability The platform, a manual and tutorial videos are available at: http://biomodeling.ics.forth.gr. It is free to use under the GNU General Public License. PMID:21603180

  1. Cleveland Clinic intelligent mouthguard: a new technology to accurately measure head impact in athletes and soldiers

    NASA Astrophysics Data System (ADS)

    Bartsch, Adam; Samorezov, Sergey

    2013-05-01

    Nearly 2 million Traumatic Brain Injuries (TBI) occur in the U.S. each year, with societal costs approaching $60 billion. Including mild TBI and concussion, TBI's are prevalent in soldiers returning from Iraq and Afghanistan as well as in domestic athletes. Long-term risks of single and cumulative head impact dosage may present in the form of post traumatic stress disorder (PTSD), depression, suicide, Chronic Traumatic Encephalopathy (CTE), dementia, Alzheimer's and Parkinson's diseases. Quantifying head impact dosage and understanding associated risk factors for the development of long-term sequelae is critical toward developing guidelines for TBI exposure and post-exposure management. The current knowledge gap between head impact exposure and clinical outcomes limits the understanding of underlying TBI mechanisms, including effective treatment protocols and prevention methods for soldiers and athletes. In order to begin addressing this knowledge gap, Cleveland Clinic is developing the "Intelligent Mouthguard" head impact dosimeter. Current testing indicates the Intelligent Mouthguard can quantify linear acceleration with 3% error and angular acceleration with 17% error during impacts ranging from 10g to 174g and 850rad/s2 to 10000rad/s2, respectively. Correlation was high (R2 > 0.99, R2 = 0.98, respectively). Near-term development will be geared towards quantifying head impact dosages in vitro, longitudinally in athletes and to test new sensors for possible improved accuracy and reduced bias. Long-term, the IMG may be useful to soldiers to be paired with neurocognitive clinical data quantifying resultant TBI functional deficits.

  2. Endoscopic ultrasonography guided-fine needle aspiration for the diagnosis of solid pancreaticobiliary lesions: Clinical aspects to improve the diagnosis

    PubMed Central

    Matsubayashi, Hiroyuki; Matsui, Toru; Yabuuchi, Yohei; Imai, Kenichiro; Tanaka, Masaki; Kakushima, Naomi; Sasaki, Keiko; Ono, Hiroyuki

    2016-01-01

    Endoscopic ultrasonography-guided fine-needle aspiration (EUS-FNA) has been applied to pancreaticobiliary lesions since the 1990s and is in widespread use throughout the world today. We used this method to confirm the pathological evidence of the pancreaticobiliary lesions and to perform suitable therapies. Complications of EUS-FNA are quite rare, but some of them are severe. Operators should master conventional EUS observation and experience a minimum of 20-30 cases of supervised EUS-FNA on non-pancreatic and pancreatic lesions before attempting solo EUS-FNA. Studies conducted on pancreaticobiliary EUS-FNA have focused on selection of suitable instruments (e.g., needle selection) and sampling techniques (e.g., fanning method, suction level, with or without a stylet, optimum number of passes). Today, the diagnostic ability of EUS-FNA is still improving; the detection of pancreatic cancer (PC) currently has a sensitivity of 90%-95% and specificity of 95%-100%. In addition to PC, a variety of rare pancreatic tumors can be discriminated by conducting immunohistochemistry on the FNA materials. A flexible, large caliber needle has been used to obtain a large piece of tissue, which can provide sufficient histological information to be helpful in classifying benign pancreatic lesions. EUS-FNA can supply high diagnostic yields even for biliary lesions or peri-pancreaticobiliary lymph nodes. This review focuses on the clinical aspects of EUS-FNA in the pancreaticobiliary field, with the aim of providing information that can enable more accurate and efficient diagnosis. PMID:26811612

  3. Skin Manifestations of Insulin Resistance: From a Biochemical Stance to a Clinical Diagnosis and Management.

    PubMed

    González-Saldivar, Gloria; Rodríguez-Gutiérrez, René; Ocampo-Candiani, Jorge; González-González, José Gerardo; Gómez-Flores, Minerva

    2017-03-01

    Worldwide, more than 1.9 billion adults are overweight, and around 600 million people suffer from obesity. Similarly, ~382 million individuals live with diabetes, and 40-50% of the global population is labeled at "high risk" (i.e., prediabetes). The impact of these two chronic conditions relies not only on the burden of illnesses per se (i.e., associated increased morbidity and mortality), but also on their increased cost, burden of treatment, and decreased health-related quality of life. For this review a comprehensive search in several databases including PubMed (MEDLINE), Ovid EMBASE, Web of Science, and Scopus was conducted. In both diabetes and obesity, genetic, epigenetic, and environmental factors overlap and are inclusive rather than exclusive. De facto, 70-80% of the patients with obesity and virtually every patient with type 2 diabetes have insulin resistance. Insulin resistance is a well-known pathophysiologic factor in the development of type 2 diabetes, characteristically appearing years before its diagnosis. The gold standard for insulin resistance diagnosis (the euglycemic insulin clamp) is a complex, invasive, costly, and hence unfeasible test to implement in clinical practice. Likewise, laboratory measures and derived indexes [e.g., homeostasis model assessment of insulin resistance (HOMA-IR-)] are indirect, imprecise, and not highly accurate and reproducible tests. However, skin manifestations of insulin resistance (e.g., acrochordons, acanthosis nigricans, androgenetic alopecia, acne, hirsutism) offer a reliable, straightforward, and real-time way to detect insulin resistance. The objective of this review is to aid clinicians in recognizing skin manifestations of insulin resistance. Diagnosing these skin manifestations accurately may cascade positively in the patient's health by triggering an adequate metabolic evaluation, a timely treatment or referral with the ultimate objective of decreasing diabetes and obesity burden, and improving the

  4. Toward a highly accurate ambulatory system for clinical gait analysis via UWB radios.

    PubMed

    Shaban, Heba A; Abou el-Nasr, Mohamad; Buehrer, R Michael

    2010-03-01

    In this paper, we propose and investigate a low-cost and low-complexity wireless ambulatory human locomotion tracking system that provides a high ranging accuracy (intersensor distance) suitable for the assessment of clinical gait analysis using wearable ultra wideband (UWB) transceivers. The system design and transceiver performance are presented in additive-white-gaussian noise and realistic channels, using industry accepted channel models for body area networks. The proposed system is theoretically capable of providing a ranging accuracy of 0.11 cm error at distances equivalent to interarker distances, at an 18 dB SNR in realistic on-body UWB channels. Based on real measurements, it provides the target ranging accuracy at an SNR = 20 dB. The achievable accuracy is ten times better than the accuracy reported in the literature for the intermarker-distance measurement. This makes it suitable for use in clinical gait analysis, and for the characterization and assessment of unstable mobility diseases, such as Parkinson's disease.

  5. Early Diagnosis of Autism Spectrum Disorder: Stability and Change in Clinical Diagnosis and Symptom Presentation

    ERIC Educational Resources Information Center

    Guthrie, Whitney; Swineford, Lauren B.; Nottke, Charly; Wetherby, Amy M.

    2013-01-01

    Background: Although a diagnosis of autism spectrum disorder (ASD) appears to be stable in children as young as age three, few studies have explored stability of a diagnosis in younger children. Predictive value of diagnostic tools for toddlers and patterns of symptom change are important considerations for clinicians making early diagnoses. Most…

  6. Adenoid cystic carcinoma - Clinical presentation and cytological diagnosis.

    PubMed

    Dutta, N N; Baruah, R; Das, L

    2002-01-01

    Adenoid cystic carcinoma is a tumor arising from the minor salivary glands, the palate being the commonest site. It accounts for about 1% of all head and neck malignancies. We report a case with the typical presentation of a palatal growth with extensive intra-cranial invasion. The diagnosis of this case and a brief review of literature is discussed. Final diagnosis of this case was made from cytological reports. The dry smears stained with MGG were found to be definitely superior to the alcohol fixed slides stained with papanicolaou. The aim here is to highlight the importance of cytology in the diagnosis of such tumors.

  7. A new method of accurate broken rotor bar diagnosis based on modulation signal bispectrum analysis of motor current signals

    NASA Astrophysics Data System (ADS)

    Gu, F.; Wang, T.; Alwodai, A.; Tian, X.; Shao, Y.; Ball, A. D.

    2015-01-01

    Motor current signature analysis (MCSA) has been an effective way of monitoring electrical machines for many years. However, inadequate accuracy in diagnosing incipient broken rotor bars (BRB) has motivated many studies into improving this method. In this paper a modulation signal bispectrum (MSB) analysis is applied to motor currents from different broken bar cases and a new MSB based sideband estimator (MSB-SE) and sideband amplitude estimator are introduced for obtaining the amplitude at (1 ± 2 s)fs (s is the rotor slip and fs is the fundamental supply frequency) with high accuracy. As the MSB-SE has a good performance of noise suppression, the new estimator produces more accurate results in predicting the number of BRB, compared with conventional power spectrum analysis. Moreover, the paper has also developed an improved model for motor current signals under rotor fault conditions and an effective method to decouple the BRB current which interferes with that of speed oscillations associated with BRB. These provide theoretical supports for the new estimators and clarify the issues in using conventional bispectrum analysis.

  8. A clinical approach to diagnosis of autoimmune encephalitis.

    PubMed

    Graus, Francesc; Titulaer, Maarten J; Balu, Ramani; Benseler, Susanne; Bien, Christian G; Cellucci, Tania; Cortese, Irene; Dale, Russell C; Gelfand, Jeffrey M; Geschwind, Michael; Glaser, Carol A; Honnorat, Jerome; Höftberger, Romana; Iizuka, Takahiro; Irani, Sarosh R; Lancaster, Eric; Leypoldt, Frank; Prüss, Harald; Rae-Grant, Alexander; Reindl, Markus; Rosenfeld, Myrna R; Rostásy, Kevin; Saiz, Albert; Venkatesan, Arun; Vincent, Angela; Wandinger, Klaus-Peter; Waters, Patrick; Dalmau, Josep

    2016-04-01

    Encephalitis is a severe inflammatory disorder of the brain with many possible causes and a complex differential diagnosis. Advances in autoimmune encephalitis research in the past 10 years have led to the identification of new syndromes and biomarkers that have transformed the diagnostic approach to these disorders. However, existing criteria for autoimmune encephalitis are too reliant on antibody testing and response to immunotherapy, which might delay the diagnosis. We reviewed the literature and gathered the experience of a team of experts with the aims of developing a practical, syndrome-based diagnostic approach to autoimmune encephalitis and providing guidelines to navigate through the differential diagnosis. Because autoantibody test results and response to therapy are not available at disease onset, we based the initial diagnostic approach on neurological assessment and conventional tests that are accessible to most clinicians. Through logical differential diagnosis, levels of evidence for autoimmune encephalitis (possible, probable, or definite) are achieved, which can lead to prompt immunotherapy.

  9. A clinical approach to diagnosis of autoimmune encephalitis

    PubMed Central

    Graus, Francesc; Titulaer, Maarten J; Balu, Ramani; Benseler, Susanne; Bien, Christian G; Cellucci, Tania; Cortese, Irene; Dale, Russell C; Gelfand, Jeffrey M; Geschwind, Michael; Glaser, Carol A; Honnorat, Jerome; Höftberger, Romana; Iizuka, Takahiro; Irani, Sarosh R; Lancaster, Eric; Leypoldt, Frank; Prüss, Harald; Rae-Grant, Alexander; Reindl, Markus; Rosenfeld, Myrna R; Rostásy, Kevin; Saiz, Albert; Venkatesan, Arun; Vincent, Angela; Wandinger, Klaus-Peter; Waters, Patrick; Dalmau, Josep

    2016-01-01

    Encephalitis is a severe inflammatory disorder of the brain with many possible causes and a complex differential diagnosis. Advances in autoimmune encephalitis research in the past 10 years have led to the identification of new syndromes and biomarkers that have transformed the diagnostic approach to these disorders. However, existing criteria for autoimmune encephalitis are too reliant on antibody testing and response to immunotherapy, which might delay the diagnosis. We reviewed the literature and gathered the experience of a team of experts with the aims of developing a practical, syndrome-based diagnostic approach to autoimmune encephalitis and providing guidelines to navigate through the differential diagnosis. Because autoantibody test results and response to therapy are not available at disease onset, we based the initial diagnostic approach on neurological assessment and conventional tests that are accessible to most clinicians. Through logical differential diagnosis, levels of evidence for autoimmune encephalitis (possible, probable, or definite) are achieved, which can lead to prompt immunotherapy. PMID:26906964

  10. [Achondrogenesis. Ultrasonic diagnosis and clinical and anatomopathologic comparison].

    PubMed

    Mandjee, D; Clément, F; Belin, M; Harter, S; Clamaran, E

    1991-05-01

    The authors report two cases of achondrogenesis, the first of which was diagnosed in utero. Ultrasonographic abnormalities suggested the diagnosis, which was confirmed radiographically. The diagnosis of achondrogenesis in utero made it possible to avoid a Cesarian. It is always difficult to extract the malformed fetus. The histopathology findings make it possible to codify this rare type of congenital and lethal chondrodysplasia. Achondrogenesis is probably inherited in a recessive and autosomic fashion.

  11. A Clinical Risk Score to Improve the Diagnosis of Tachycardia-Induced Cardiomyopathy in Childhood.

    PubMed

    Moore, Jeremy P; Wang, Shuo; Albers, Erin L; Salerno, Jack C; Stephenson, Elizabeth A; Shah, Maully J; Pflaumer, Andreas; Czosek, Richard J; Garnreiter, Jason M; Collins, Kathryn; Papez, Andrew L; Sanatani, Shubhayan; Cain, Nicole B; Kannankeril, Prince J; Perry, James C; Mandapati, Ravi; Silva, Jennifer N A; Balaji, Seshadri; Shannon, Kevin M

    2016-10-01

    Tachycardia-induced cardiomyopathy (TIC) is a treatable cause of heart failure in children, but there is little information as to which clinical variables best discriminate TIC from other forms of cardiomyopathy. TIC cases with dilated cardiomyopathy (DC) from 16 participating centers were identified and compared with controls with other forms of DC. Presenting clinical, echocardiographic, and electrocardiographic characteristics were collected. Heart rate (HR) percentile was defined as HR/median HR for age, and PR index as the PR/RR interval. P-wave morphology (PWM) was defined as possible sinus or nonsinus based on a predefined algorithm. Eighty TIC cases and 135 controls were identified. Cases demonstrated lower LV end-diastolic diameter and LV end-systolic diameter than DC controls (4.3 vs 6.5, p <0.001; 7.4 vs 10.9, p <0.001) and were less likely to receive inotropic medication at presentation (p <0.001 for both). Multivariable logistic regression identified HR percentile (OR 2.1 per 10% increase, CI 1.3 to 4.6; p = 0.014), PR index (OR 1.2, CI 1.1 to 1.4; p = 0.004), and nonsinus PWM (OR 104.9, CI 15.2 to 1,659.8; p <0.001) as predictive of TIC status. A risk score using HR percentile >130%, PR index >30%, and nonsinus PWM was associated with a sensitivity of 100% and specificity of 87% for the diagnosis of TIC. Model training and validation area under the curves were similar at 0.97 and 0.94, respectively. In conclusion, pediatric TIC may be accurately discriminated from other forms of DC using simple electrocardiographic parameters. This may allow for rapid diagnosis and early treatment of this condition.

  12. How accurate are antenatal weight measurements? A survey of hospital and community clinics in a South Thames Region NHS Trust.

    PubMed

    Harris, H E; Ellison, G T; Holliday, M; Nickson, C

    1998-04-01

    The accuracy of antenatal weight data recorded in obstetric notes was investigated in the 45 hospital and community antenatal clinics within a South Thames Region NHS Trust. In order to assess the reliability and validity of all 60 clinic scales triplicate measurements of body weight for low- and high-weight subjects were recorded on each clinical scale and on a calibrated standard scale. The quality of weighing practice during antenatal care was investigated by means of semi-structured interviews conducted with all 33 midwives who currently provide antenatal care within the Trust. Beam balances had the highest reliability and validity, whereas scales with spring mechanisms were the least accurate. Only 40% of the clinics surveyed had access to beam balances, yet most of the maternal weight measurements recorded during antenatal care are likely to be out by no more than 1-1.5% of body weight. Weighing practice was generally inconsistent, and serial measurements of maternal body weight collected during pregnancy are probably too imprecise to provide a sensitive screen for conditions associated with unusual weight gain and too inaccurate to assess compliance with guidelines for weight gain.

  13. [Neuromuscular dynamic scapular winging: Clinical, electromyographic and magnetic resonance imaging diagnosis].

    PubMed

    Nguyen, Christelle; Guérini, Henri; Roren, Alexandra; Zauderer, Jennifer; Vuillemin, Valérie; Seror, Paul; Ouaknine, Michaël; Palazzo, Clémence; Bourdet, Christopher; Pluot, Étienne; Roby-Brami, Agnès; Drapé, Jean-Luc; Rannou, François; Poiraudeau, Serge; Lefèvre-Colau, Marie-Martine

    2015-12-01

    Dyskinesia of the scapula is a clinical diagnosis and includes all disorders affecting scapula positioning and movement whatever its etiology. Scapular winging is a subtype of scapular dyskinesia due to a dynamic prominence of the medial border of the scapula (DSW) secondary to neuromuscular imbalance in the scapulothoracic stabilizer muscles. The two most common causes of DSW are microtraumatic or idiopathic lesions of the long thoracic nerve (that innerves the serratus anterior) or the accessory nerve (that innerves the trapezius). Diagnosis of DSW is clinical and electromyographic. Use of magnetic resonance imaging (MRI) could be of interest to distinguish lesion secondary to a long thoracic nerve from accessory nerve and to rule out scapular dyskinesia related to other shoulder disorders. Causal neuromuscular lesion diagnosis in DSW is challenging. Clinical examinations, combined with scapular MRI, could help to their specific diagnosis, determining their stage, ruling out differential diagnosis and thus give raise to more targeted treatment.

  14. The Role of Biomedical Knowledge in Diagnosis of Difficult Clinical Cases

    ERIC Educational Resources Information Center

    Woods, Nicole N.; Brooks, Lee R.; Norman, Geoffrey R.

    2007-01-01

    Although biomedical knowledge is believed to be of little value in diagnosis of routine clinical cases, studies of clinical reasoning have found that physicians revert to use of basic biomedical knowledge when faced with challenging clinical problems. The current paper presents two experiments that empirically examine the role of biomedical…

  15. [Monoclonal gammopathies of indetermined significance: diagnosis and clinical follow-up guidelines].

    PubMed

    Parreira, Joana; Lúcio, Paulo; João, Cristina; Macedo, Ana; Sarmento, Ana Bela; Geraldes, Catarina; Gonçalves, Cristina; Esteves, Graça

    2014-01-01

    The Portuguese group of multiple myeloma of the Portuguese Society of Hematology proposes a national protocol for diagnosis and clinical follow-up of monoclonal gammopathies. The proposed protocol aims to standardize clinical management of monoclonal gammopathies. Furthermore, it would also define the major risk factors for progression to Multiple Myeloma that require a precocious close articulation between general practitioners and a Hematology Clinic.

  16. Integrated clinical-ultrasonographic diagnosis in acute appendicitis.

    PubMed

    Summa, M; Perrone, F; Priora, F; Testa, S; Quarati, R; Spinoglio, G

    2007-12-01

    Sommario SCOPO: L'appendicite acuta è una delle urgenze chirurgiche addominali più comuni. Se non trattata, può rapidamente progredire verso complicanze severe, quali la perforazione e la peritonite. Spesso i chirurghi optano per un intervento chirurgico precoce anche in caso di diagnosi solo probabile, con il rischio di eseguire una quota importante di appendicectomie inutili. Lo scopo dello studio è di analizzare la nostra esperienza con la diagnosi integrata clinico-ultrasonografica dell'appendicite acuta. MATERIALI E METODI: Durante il periodo gennaio 1999-dicembre 2006 1447 pazienti sono stati sottoposti a valutazione clinica, a conta leucocitaria, dosaggio della proteina C reattiva ed ecografia addominale. È stata utilizzata la tecnica ecografia di compressione graduale, con sonda ad alta frequenza. RISULTATI: È stata formulata diagnosi ecografica di appendicite acuta in 368 pazienti (25%). Ulteriori 8 pazienti sono stati operati sulla base del solo giudizio clinico. Abbiamo osservato 7 casi di falsi positivi ecografici. In 1079 (75% del totale) pazienti è stato espresso un giudizio diagnostico negativo per appendicite acuta: in 173 di essi (12%) è stata formulata una diagnosi diversa. I restanti 906 pazienti sono stati sottoposti a controllo clinico fino alla risoluzione della sintomatologia, senza alcuna complicanza. I nostri risultati hanno dimostrato una sensibilità dell'ecografia del 98%, una specificità del 99%, un valore predittivo positivo del 98% e un valore predittivo negativo del 99%. L'accuratezza diagnostica globale è stata del 99%. CONCLUSIONI: La diagnosi integrata (clinica, di laboratorio ed ecografica) dell'appendicite acuta consente una diagnosi sicura, con risparmio di risorse evitando il ricorso ad appendicectomie inutili.

  17. [Clinical practice guidelines on the diagnosis and treatment of infectious acute diarrhea in children Peru - 2011].

    PubMed

    Gonzales S, Carlos; Bada M, Carlos; Rojas G, Raúl; Bernaola A, Guillermo; Chávez B, Carlos

    2011-01-01

    The Clinical Practice Guidelines cover the Diagnosis and Treatment of Acute Diarrhea in Pediatric Infectious is a consice information about definition, inclusion and exclusion criteria; epidemiology and etiology of infectious diarrhea. The guidelines cover aspects of diagnosis and treatment (dehydration, antibiotics, supportive therapy), nutritional support and other aspects of transferences and prevention.

  18. [Clinical diagnosis of Autosomal Dominant Polycystic Kidney Disease].

    PubMed

    Magistroni, Riccardo; Izzi, Claudia; Scolari, Francesco

    2016-01-01

    Autosomal dominant polycystic kidney disease (ADPKD) is the most common genetic disorder related to kidney. ADPKD is usually easy to diagnose in people who have a family history of ADPKDs developing typical symptoms, including flank, abdominal pain or macroscopic hematuria. In this setting, diagnosis in adults at risk for ADPKD is commonly performed by ultrasonography, which reveals two enlarged kidneys with multiple bilateral cysts. ADPKD may be more difficult to diagnose in the absence of family history or in subjects with atypical presentation, including asymmetric or focal renal imaging findings, discordant disease within family, early onset of ADPKD and development of ESRD before 30 yr of age. The presence of a total of three or more renal cysts for at-risk subjects aged 15-39 years and two cysts or more in each kidney for at-risk subjects aged 40-59 years are sufficient for the diagnosis of ADPKD. The absence of any renal cyst is sufficient for disease exclusion only for at-risk subjects aged 40 years or older. If the family history is negative, the diagnosis of ADPKD can be made in a patient with enlarged kidneys, numerous cysts, presence of liver cysts and absence of findings suggesting a different cystic disease. If the imaging diagnosis is not clear or showing atypical manifestations in subjects, molecular genetic testing should be performed.

  19. Cushing's syndrome: from physiological principles to diagnosis and clinical care

    PubMed Central

    Raff, Hershel; Carroll, Ty

    2015-01-01

    The physiological control of cortisol synthesis in the adrenal cortex involves stimulation of adrenocorticotrophic hormone (ACTH) by hypothalamic corticotrophin-releasing hormone (CRH) and then stimulation of the adrenal by ACTH. The control loop of the hypothalamic–pituitary–adrenal (HPA) axis is closed by negative feedback of cortisol on the hypothalamus and pituitary. Understanding this system is required to master the diagnosis, differential diagnosis and treatment of endogenous hypercortisolism – Cushing's syndrome. Endogenous Cushing's syndrome is caused either by excess ACTH secretion or by autonomous cortisol release from the adrenal cortex. Diagnosis of cortisol excess exploits three physiological principles: failure to achieve the normal nadir in the cortisol diurnal rhythm, loss of sensitivity of ACTH-secreting tumours to cortisol negative feedback, and increased excretion of free cortisol in the urine. Differentiating a pituitary source of excess ACTH (Cushing's disease) from an ectopic source is accomplished by imaging the pituitary and sampling for ACTH in the venous drainage of the pituitary. With surgical removal of ACTH or cortisol-secreting tumours, secondary adrenal insufficiency ensues because of the prior suppression of the HPA axis by glucocorticoid negative feedback. Medical therapy is targeted to the anatomical location of the dysregulated component of the HPA axis. Future research will focus on new diagnostics and treatments of Cushing's syndrome. These are elegant examples of translational research: understanding basic physiology informs the development of new approaches to diagnosis and treatment. Appreciating pathophysiology generates new areas for inquiry of basic physiological and biochemical mechanisms. PMID:25480800

  20. A Comparison Between Clinical Diagnosis of Death and Autopsy Diagnosis. A Retrospective Study of 131 Newborns, Stillborns and Aborted Fetuses

    PubMed Central

    COSTACHE, Mariana; CIRSTOIU, Monica; CONTOLENCO, Andreea; LAZAROIU, Anca Mihaela; GEORGE, Simion; SAJIN, Maria; PATRASCU, Oana Maria

    2014-01-01

    In recent years, the autopsy was considered necessary only in medico-legal cases, or when the clinician requires it to better understand the pathology and cause of death (with the deceased family's consent). Although it has been shown in numerous studies that the autopsy and the postmortem histopathological examination are the only ones that can diagnose correctly and completely, the autopsy rate is declining. The primary motive of the family in consenting to a perinatal necropsy, may be to determine the cause of death of their child and to be aware of possible complications of their future pregnancy. This study shows the rate of concordance between clinical diagnosis and autopsy diagnosis, and the rate of concordance between macroscopic diagnosis and microscopic findings, pointing out once again the importance and the utility of the autopsy in medical practice. PMID:25705276

  1. [Clinical diagnosis of thrombosis and blood coagulation tests].

    PubMed

    Watanabe, K

    1998-03-01

    Blood coagulation tests are useful to diagnose some thrombotic diseases. Particularly, these tests are valuable for the diagnosis of familiar thrombophilia, antiphospholipid antibody syndrome (APS) and disseminated intravascular coagulation (DIC). For the diagnosis of thrombophilia, determinations of both biological activity and antigen level of antithrombin III, protein C and protein S are important for initial screening. Since activated protein C (APC) resistance is extremely rare in Japanese, APC resistant test that based on APTT, is unnecessary to include as one of the screening tests. Detection of activity and antigen level of either plasminogen or fibrinogen is recommended to screen the plasminogen deficiency or dysfibrinogenemia. Determination of lupus anticoagulant is needed for the diagnosis of APS. At this time, the dilute phospholipid APTT (dAPTT) or the dilute Russell viper venom time (dRVVT) may be useful as a screening test for LA because procedure of these tests are basically simple to perform in Japanese laboratory. In the next step, cross mixing test of dAPTT (or APTT) should be perform to make a diagnose of LA more solid. Final confirm tests can be conveniently carried out with kit of either STACLOT or LA-CONFIRM. Platelet count and FDP (or FDP D dimer) assay are two essential tests for the diagnosis of DIC. Criteria of diagnosis for DIC recommended by Blood Coagulation Research Group of Japanese Ministry of Health and Welfare is not unnecessarily appropriate for practical use. TAT and PIC can be a good laboratory tests for early detection of hypercoagulable state in patients with DIC.

  2. Clinical practice: the diagnosis of imported malaria in children.

    PubMed

    Maltha, Jessica; Jacobs, Jan

    2011-07-01

    The present paper reviews the diagnosis of imported malaria in children. Malaria is caused by a parasite called Plasmodium and occurs in over 100 countries worldwide. Children account for 10-15% of all patients with imported malaria and are at risk to develop severe and life-threatening complications especially when infected with Plasmodium falciparum. Case-fatality ratios vary between 0.2% and 0.4%. Children visiting friends and relatives in malaria endemic areas and immigrants and refugees account for the vast majority of cases. Symptoms are non-specific and delayed infections (more than 3 months after return from an endemic country) may occur. Microscopic analysis of the thick blood film is the cornerstone of laboratory diagnosis. For pragmatic reasons, EDTA-anticoagulated blood is accepted, provided that slides are prepared within 1 h after collection. Information about the Plasmodium species (in particular P. falciparum versus the non-falciparum species) and the parasite density is essential for patient management. Molecular methods in reference settings are an adjunct for species differentiation. Signals generated by automated hematology analyzers may trigger the diagnosis of malaria in non-suspected cases. Malaria rapid diagnostic tests are reliable in the diagnosis of P. falciparum but not for the detection of the non-falciparum species. They do not provide information about parasite density and should be used as an adjunct (and not a substitute) to microscopy. In case of persistent suspicion and negative microscopy results, repeat testing every 8-12 h for at least three consecutive samplings is recommended. A high index of suspicion and a close interaction with the laboratory may assure timely diagnosis of imported malaria.

  3. Reliability of solar keratosis clinical diagnosis: A prospective study.

    PubMed

    Buinauskaite, Evelina; Makstiene, Jurgita; Buinauskiene, Jurate; Valiukeviciene, Skaidra

    2015-05-01

    Usually solar keratoses (SK) are diagnosed clinically. However other diseases may clinically present as erythematous macules, papules or patches on sun-exposed areas; therefore the histopathology remains the gold standard diagnostic tool. Our study, which assessed the efficacy of photodynamic therapy (PDT), showed that one in 20 clinically diagnosed SK lesions grade I-II identified by board-certified dermatologists were rosacea and only one in 40 were malignant lesions. These findings should be considered by clinicians who treat clinically diagnosed grade I-II SK without response to treatment or diagnose the recurrence of SK after PDT.

  4. Incentives Increase Participation in Mass Dog Rabies Vaccination Clinics and Methods of Coverage Estimation Are Assessed to Be Accurate

    PubMed Central

    Steinmetz, Melissa; Czupryna, Anna; Bigambo, Machunde; Mzimbiri, Imam; Powell, George; Gwakisa, Paul

    2015-01-01

    In this study we show that incentives (dog collars and owner wristbands) are effective at increasing owner participation in mass dog rabies vaccination clinics and we conclude that household questionnaire surveys and the mark-re-sight (transect survey) method for estimating post-vaccination coverage are accurate when all dogs, including puppies, are included. Incentives were distributed during central-point rabies vaccination clinics in northern Tanzania to quantify their effect on owner participation. In villages where incentives were handed out participation increased, with an average of 34 more dogs being vaccinated. Through economies of scale, this represents a reduction in the cost-per-dog of $0.47. This represents the price-threshold under which the cost of the incentive used must fall to be economically viable. Additionally, vaccination coverage levels were determined in ten villages through the gold-standard village-wide census technique, as well as through two cheaper and quicker methods (randomized household questionnaire and the transect survey). Cost data were also collected. Both non-gold standard methods were found to be accurate when puppies were included in the calculations, although the transect survey and the household questionnaire survey over- and under-estimated the coverage respectively. Given that additional demographic data can be collected through the household questionnaire survey, and that its estimate of coverage is more conservative, we recommend this method. Despite the use of incentives the average vaccination coverage was below the 70% threshold for eliminating rabies. We discuss the reasons and suggest solutions to improve coverage. Given recent international targets to eliminate rabies, this study provides valuable and timely data to help improve mass dog vaccination programs in Africa and elsewhere. PMID:26633821

  5. Incentives Increase Participation in Mass Dog Rabies Vaccination Clinics and Methods of Coverage Estimation Are Assessed to Be Accurate.

    PubMed

    Minyoo, Abel B; Steinmetz, Melissa; Czupryna, Anna; Bigambo, Machunde; Mzimbiri, Imam; Powell, George; Gwakisa, Paul; Lankester, Felix

    2015-12-01

    In this study we show that incentives (dog collars and owner wristbands) are effective at increasing owner participation in mass dog rabies vaccination clinics and we conclude that household questionnaire surveys and the mark-re-sight (transect survey) method for estimating post-vaccination coverage are accurate when all dogs, including puppies, are included. Incentives were distributed during central-point rabies vaccination clinics in northern Tanzania to quantify their effect on owner participation. In villages where incentives were handed out participation increased, with an average of 34 more dogs being vaccinated. Through economies of scale, this represents a reduction in the cost-per-dog of $0.47. This represents the price-threshold under which the cost of the incentive used must fall to be economically viable. Additionally, vaccination coverage levels were determined in ten villages through the gold-standard village-wide census technique, as well as through two cheaper and quicker methods (randomized household questionnaire and the transect survey). Cost data were also collected. Both non-gold standard methods were found to be accurate when puppies were included in the calculations, although the transect survey and the household questionnaire survey over- and under-estimated the coverage respectively. Given that additional demographic data can be collected through the household questionnaire survey, and that its estimate of coverage is more conservative, we recommend this method. Despite the use of incentives the average vaccination coverage was below the 70% threshold for eliminating rabies. We discuss the reasons and suggest solutions to improve coverage. Given recent international targets to eliminate rabies, this study provides valuable and timely data to help improve mass dog vaccination programs in Africa and elsewhere.

  6. Diagnosis of Sanfilippo disease correlating clinical, radiological and biochemical findings-a case report.

    PubMed

    Agrawal, Udit; Meshram, Ajay; Vagha, Jayant; Swarnkar, Kirti; Palandurkar, Kamlesh

    2012-10-01

    Mucopolysaccharidoses (MPS) are a group of genetic diseases and its diagnosis is a challenging task due to multiple differential diagnosis. We had combined clinical findings, radiological and ophthalmological features. Biochemical test for urine glycosaminoglycans (GAG) was done for confirmation of diagnosis in the patient. The case of Sanfilippo disease was characterized by slowly progressive, severe CNS involvement with mild somatic disease. Radiological features were suggestive of Sanfilippo disease and urine GAG test for MPS was positive in the case. With the clinical features we had multiple differential diagnoses. The radiological investigations minimized the list and the biochemical test confirmed GAG in urine. In this case the combination of clinical, radiological and biochemical findings confirmed the diagnosis of Sanfilippo disease.

  7. Reliability of clinical diagnosis and laboratory testing techniques currently used for identification of canine parvovirus enteritis in clinical settings.

    PubMed

    Faz, Mirna; Martínez, José Simón; Quijano-Hernández, Israel; Fajardo, Raúl

    2017-01-24

    Canine parvovirus type 2 (CPV-2) is the main etiological agent of viral enteritis in dogs. Actually in literature, CPV-2 has been reported with clinical signs that vary from the classical disease, and immunochromatography test and PCR technique have been introduced to veterinary hospitals to confirm CPV-2 diagnosis and other infections. However, the reliability of these techniques has been poorly analyzed. In this study, we evaluated the sensitivity and specificity of veterinary clinical diagnosis, immunochromatography test and PCR technique. Our data indicate that variations in the clinical signs of CPV-2 complicate the gathering of an appropriate diagnosis; and immunochromatography test and PCR technique do not have adequate sensitivity to diagnose positive cases.

  8. Reliability of clinical diagnosis and laboratory testing techniques currently used for identification of canine parvovirus enteritis in clinical settings

    PubMed Central

    FAZ, Mirna; MARTÍNEZ, José Simón; QUIJANO-HERNÁNDEZ, Israel; FAJARDO, Raúl

    2016-01-01

    Canine parvovirus type 2 (CPV-2) is the main etiological agent of viral enteritis in dogs. Actually in literature, CPV-2 has been reported with clinical signs that vary from the classical disease, and immunochromatography test and PCR technique have been introduced to veterinary hospitals to confirm CPV-2 diagnosis and other infections. However, the reliability of these techniques has been poorly analyzed. In this study, we evaluated the sensitivity and specificity of veterinary clinical diagnosis, immunochromatography test and PCR technique. Our data indicate that variations in the clinical signs of CPV-2 complicate the gathering of an appropriate diagnosis; and immunochromatography test and PCR technique do not have adequate sensitivity to diagnose positive cases. PMID:27818461

  9. Hyperthyroidism in four guinea pigs: clinical manifestations, diagnosis, and treatment.

    PubMed

    Künzel, F; Hierlmeier, B; Christian, M; Reifinger, M

    2013-12-01

    Hyperthyroidism was diagnosed in four guinea pigs by demonstration of an increased serum total thyroxine concentration. The main clinical signs were comparable with those observed in feline hyperthyroidism and included weight loss despite maintenance of appetite and a palpable mass in the ventral cervical region. Three animals were treated successfully with methimazole for between 13 and 28 months. Clinical signs and regular measurement of circulating total thyroxine concentrations appear to be convenient parameters for monitoring response to medical therapy.

  10. Incorporating diagnosis and treatment of hyperhidrosis into clinical practice.

    PubMed

    Pariser, David M

    2014-10-01

    Proper billing and coding are essential to document the diagnosis of hyperhidrosis and to assure proper reimbursement for treatment. Providers should become familiar with the payment policies of local health plans to streamline the preauthorization process that is often needed for many treatments commonly used for hyperhidrosis. Having a preprinted letter of medical necessity and patient intake forms that record the necessary historical information about the disease, previous treatments, and other pertinent information will help increase the speed of the office flow. This article presents algorithms for treatment of the various forms of primary focal hyperhidrosis.

  11. The clinical features, diagnosis and management of recurrent thymoma.

    PubMed

    Luo, Taobo; Zhao, Hongguang; Zhou, Xinming

    2016-08-31

    Thymoma is a disease with malignant potential, which has a recurrence rate after complete resection ranging from 5 to 50 %. Multiple studies on the risk factors, treatment or prognosis have been reported. Many of them are controversial, however. In this review, we summarized some accepted risk factors, means of diagnosis and different treatments of recurrent thymoma. The risk factors of recurrent thymoma haven't been well-studied, and its management remains controversial. We reviewed the literatures and found some key points which should be noticed during the surgery of initial thymoma. Although reoperation should be taken into account preferentially, multimodal treatments are also available. The prognosis are also been discussed.

  12. Diagnosis and clinical assessment of a stiff shoulder.

    PubMed

    Armstrong, Alison

    2015-04-01

    The assessment of a stiff shoulder is explored, the necessary investigations to reach a diagnosis are discussed, and the likely causes that can contribute to a frozen shoulder are described. Two flow diagrams are included to help in reaching a conclusion when seeing a patient with a stiff shoulder. The key elements to reaching that conclusion are: carefully listening to the patients story, noting whether there has been a history of trauma, as well as a careful and thorough examination and a plain X-ray with two views.

  13. Retinal Diseases Caused by Mutations in Genes Not Specifically Associated with the Clinical Diagnosis

    PubMed Central

    Feng, Yanming; Li, Jianli; Zhang, Wei; Wang, Jing; Lewis, Richard A.; Wong, Lee-Jun

    2016-01-01

    Purpose When seeking a confirmed molecular diagnosis in the research setting, patients with one descriptive diagnosis of retinal disease could carry pathogenic variants in genes not specifically associated with that description. However, this event has not been evaluated systematically in clinical diagnostic laboratories that validate fully all target genes to minimize false negatives/positives. Methods We performed targeted next-generation sequencing analysis on 207 ocular disease-related genes for 42 patients whose DNA had been tested negative for disease-specific panels of genes known to be associated with retinitis pigmentosa, Leber congenital amaurosis, or exudative vitreoretinopathy. Results Pathogenic variants, including single nucleotide variations and copy number variations, were identified in 9 patients, including 6 with variants in syndromic retinal disease genes and 3 whose molecular diagnosis could not be distinguished easily from their submitted clinical diagnosis, accounting for 21% (9/42) of the unsolved cases. Conclusion Our study underscores the clinical and genetic heterogeneity of retinal disorders and provides valuable reference to estimate the fraction of clinical samples whose retinal disorders could be explained by genes not specifically associated with the corresponding clinical diagnosis. Our data suggest that sequencing a larger set of retinal disorder related genes can increase the molecular diagnostic yield, especially for clinically hard-to-distinguish cases. PMID:27788217

  14. What's in a Label? Is Diagnosis the Start or the End of Clinical Reasoning?

    PubMed

    Ilgen, Jonathan S; Eva, Kevin W; Regehr, Glenn

    2016-04-01

    Diagnostic reasoning has received substantial attention in the literature, yet what we mean by "diagnosis" may vary. Diagnosis can align with assignment of a "label," where a constellation of signs, symptoms, and test results is unified into a solution at a single point in time. This "diagnostic labeling" conceptualization is embodied in our case-based learning curricula, published case reports, and research studies, all of which treat diagnostic accuracy as the primary outcome. However, this conceptualization may oversimplify the richly iterative and evolutionary nature of clinical reasoning in many settings. Diagnosis can also represent a process of guiding one's thoughts by "making meaning" from data that are intrinsically dynamic, experienced idiosyncratically, negotiated among team members, and rich with opportunities for exploration. Thus, there are two complementary constructions of diagnosis: 1) the correct solution resulting from a diagnostic reasoning process, and 2) a dynamic aid to an ongoing clinical reasoning process. This article discusses the importance of recognizing these two conceptualizations of "diagnosis," outlines the unintended consequences of emphasizing diagnostic labeling as the primary goal of clinical reasoning, and suggests how framing diagnosis as an ongoing process of meaning-making might change how we think about teaching and assessing clinical reasoning.

  15. Canine hip dysplasia: clinical signs and physical diagnosis.

    PubMed

    Fry, T R; Clark, D M

    1992-05-01

    Clinical signs of hip dysplasia include lameness, gait abnormalities, reluctance to exercise, and pelvic limb muscle atrophy with compensatory shoulder muscle hypertrophy. Because these clinical signs are not pathognomonic for CHD, a thorough orthopedic and neurologic examination is recommended for all patients with suspected CHD. Specific maneuvers, including the Barlow, Ortolani, and Barden's signs are useful to characterize the degree of coxofemoral laxity, both as screening tools in young puppies and as diagnostic aids in clinically lame dogs. None of the signs are definitive diagnostic tests for CHD, but they should be performed as sequential maneuvers in the veterinarian's workup for suspected CHD. Pelvic radiography is mandatory to definitively diagnose CHD but should not be the first step in the workup, because other diagnoses may be missed or concurrent conditions may coexist with dysplasia.

  16. Spectrum of complicated migraine in children: A common profile in aid to clinical diagnosis

    PubMed Central

    Gupta, Surya N; Gupta, Vikash S; Fields, Dawn M

    2015-01-01

    Complicated migraine encompasses several individual clinical syndromes of migraine. Such a syndrome in children frequently presents with various neurological symptoms in the Emergency Department. An acute presentation in the absence of headache presents a diagnostic challenge. A delay in diagnosis and treatment may have medicolegal implication. To date, there are no reports of a common clinical profile proposed in making a clinical diagnosis for the complicated migraine. In this clinical review, we propose and describe: (1) A common clinical profile in aid to clinical diagnosis for spectrum of complicated migraine; (2) How it can be used in differentiating complicated migraine from migraine without aura, migraine with aura, and seizure; (3) We discuss the status of complicated migraine in the International Headache Society classification 2013; and (4) In addition, a common treatment strategy for the spectrum of migraine has been described. To diagnose complicated migraine clinically, it is imperative to adhere with the proposed profile. This will optimize the use of investigation and will also avoid a legal implication of delay in their management. The proposed common clinical profile is incongruent with the International Headache Society 2013. Future classification should minimize the dissociation from clinically encountered syndromes and coin a single word to address collectively this subtype of migraine with an acute presentation of a common clinical profile. PMID:25664241

  17. Clinical aspects of neurointestinal disease: Pathophysiology, diagnosis, and treatment.

    PubMed

    Goldstein, Allan M; Thapar, Nikhil; Karunaratne, Tennekoon Buddhika; De Giorgio, Roberto

    2016-09-15

    The enteric nervous system (ENS) is involved in the regulation of virtually all gut functions. Conditions referred to as enteric neuropathies are the result of various mechanisms including abnormal development, degeneration or loss of enteric neurons that affect the structure and functional integrity of the ENS. In the past decade, clinical and molecular research has led to important conceptual advances in our knowledge of the pathogenetic mechanisms of these disorders. In this review we consider ENS disorders from a clinical perspective and highlight the advancing knowledge regarding their pathophysiology. We also review current therapies for these diseases and present potential novel reparative approaches for their treatment.

  18. Clinical diagnosis of cardiac involvement in HIV infection

    PubMed Central

    Moldovan, L; Branzan, O; Nechita, O; Ardeleanu, C; Teodorescu, M; Geamai, A

    2012-01-01

    HIV infection is continuously raising, and different treatments did not manage to extend the patient's life. Clinical and morphopathological features of respiratory, gastrointestinal, hematological and nervous system are well characterized in HIV infection, but cardiac involvement is not so well known. Cardiac involvement is extremely rare in HIV disease, but demonstrated by echocardiography and anatomo-pathologic methods, it is more frequently met than the clinical features are supposed to be, and it can be demonstrated by positive serologic tests. The main reason of this research is the necessity to obtain data from HIV infection concerning heart involvement. PMID:23049631

  19. Alveolar Bone Fracture: Pathognomonic Sign for Clinical Diagnosis

    PubMed Central

    Gutmacher, Zvi; Peled, Eli; Norman, Doron; Lin, Shaul

    2017-01-01

    Aim: Dental injuries, especially luxation and avulsion, are common. Dental trauma can cause alveolar bone fracture that can lead to tooth loss and malocclusion. Single tooth alveolar bone fractures are difficult to identify unless it protrudes through the overlying mucosa and can be visualized. Pain, malocclusion, and tooth mobility provide signs of suspected alveolar bone fractures. Integrity of the proximate alveolar bone should be examined for fractures where avulsion, luxation, or other tooth trauma is detected. Any suggestion of alveolar fractures should be further investigated with an appropriate radiograph. Summary: This case report shows a pathognomonic sign that detects and diagnosis single tooth alveolar bone fractures, i.e., a localized hematoma crossing the attached gingiva from the free gingival margin to the vestibular mucosa. This should serve as a warning for localized alveolar bone fracture. A visualized hematoma and gentle, careful palpation may help detect covered fractures when the overlying mucosa is not perforated.

  20. [Clinical practice guideline. Diagnosis and treatment of dyslipidemia.

    PubMed

    Canalizo-Miranda, Elvia; Favela-Pérez, Eddie Alberto; Salas-Anaya, Javier Alejandro; Gómez-Díaz, Rita; Jara-Espino, Ricardo; Del Pilar Torres-Arreola, Laura; Viniegra-Osorio, Arturo

    2013-01-01

    Non-communicable diseases are a public health problem in México. Coronary heart disease and diabetes mellitus are the first and second cause of death in the country, followed by thrombotic cerebrovascular events. Cardiovascular diseases are the leading cause of death; one primary risk factor is hypercholesterolemia. The detection and treatment of lipid abnormalities is the key to the prevention and management of chronic non-communicable diseases. Two nationally representative surveys have shown that lipid abnormalities are the most common risk factors in Mexican adults. The purpose of this guide is to provide a basis for identifying dyslipidemia in a timely manner, and to systematize the criteria for diagnosis and treatment in the first and second level of care.

  1. Precision diagnosis: a view of the clinical decision support systems (CDSS) landscape through the lens of critical care.

    PubMed

    Belard, Arnaud; Buchman, Timothy; Forsberg, Jonathan; Potter, Benjamin K; Dente, Christopher J; Kirk, Allan; Elster, Eric

    2017-04-01

    Improving diagnosis and treatment depends on clinical monitoring and computing. Clinical decision support systems (CDSS) have been in existence for over 50 years. While the literature points to positive impacts on quality and patient safety, outcomes, and the avoidance of medical errors, technical and regulatory challenges continue to retard their rate of integration into clinical care processes and thus delay the refinement of diagnoses towards personalized care. We conducted a systematic review of pertinent articles in the MEDLINE, US Department of Health and Human Services, Agency for Health Research and Quality, and US Food and Drug Administration databases, using a Boolean approach to combine terms germane to the discussion (clinical decision support, tools, systems, critical care, trauma, outcome, cost savings, NSQIP, APACHE, SOFA, ICU, and diagnostics). References were selected on the basis of both temporal and thematic relevance, and subsequently aggregated around four distinct themes: the uses of CDSS in the critical and surgical care settings, clinical insertion challenges, utilization leading to cost-savings, and regulatory concerns. Precision diagnosis is the accurate and timely explanation of each patient's health problem and further requires communication of that explanation to patients and surrogate decision-makers. Both accuracy and timeliness are essential to critical care, yet computed decision support systems (CDSS) are scarce. The limitation arises from the technical complexity associated with integrating and filtering large data sets from diverse sources. Provider mistrust and resistance coupled with the absence of clear guidance from regulatory bodies further retard acceptance of CDSS. While challenges to develop and deploy CDSS are substantial, the clinical, quality, and economic impacts warrant the effort, especially in disciplines requiring complex decision-making, such as critical and surgical care. Improving diagnosis in health care

  2. Isotope-dilution assay for urinary methylmalonic acid in the diagnosis of vitamin B12 deficiency. A prospective clinical evaluation

    SciTech Connect

    Matchar, D.B.; Feussner, J.R.; Millington, D.S.; Wilkinson, R.H. Jr.; Watson, D.J.; Gale, D.

    1987-05-01

    Vitamin B12 deficiency is a frequently considered diagnosis for which there is no single, commonly available and accurate test. A urinary methylmalonic acid assay using gas chromatography-mass spectrometry has been proposed as the preferred test. We reviewed vitamin B12 assays on 1599 consecutive patients and prospectively studied all patients with low serum B12 levels (n = 75) and a random sample of patients with normal levels (n = 68). Of 96 evaluable patients, 7 had clinical deficiency. All 7 deficient patients had urinary methylmalonic acid levels greater than 5 micrograms/mg creatine (sensitivity, 100%; confidence interval, 65% to 100%). Of the 89 patients who were not clinically deficient, 88 had urinary methylmalonic acid levels less than or equal to 5 micrograms/mg creatinine (specificity, 99%). The overall test accuracy in this population was 99%. If the high sensitivity and specificity of the gas chromatography-mass spectrometry assay for urinary methylmalonic acid is supported by other clinical studies, the methylmalonic acid assay may become the reference standard for the diagnosis of vitamin B12 deficiency.

  3. An Interactive Diagnosis Approach for Supporting Clinical Nursing Courses

    ERIC Educational Resources Information Center

    Wei, Chun-Wang; Lin, Yi-Chun; Lin, Yen-Ting

    2016-01-01

    Clinical resources in nursing schools are always insufficient for satisfying the practice requirements of each student at the same time during a formal course session. Although several studies have applied information and communication technology to develop computer-based learning tools for addressing this problem, most of these developments lack…

  4. How Clinical Diagnosis Might Exacerbate the Stigma of Mental Illness

    ERIC Educational Resources Information Center

    Corrigan, Patrick W.

    2007-01-01

    Stigma can greatly exacerbate the experience of mental illness. Diagnostic classification frequently used by clinical social workers may intensify this stigma by enhancing the public's sense of "groupness" and "differentness" when perceiving people with mental illness. The homogeneity assumed by stereotypes may lead mental health professionals and…

  5. THE CLINICAL ASPECTS, DIAGNOSIS AND EPIDEMIOLOGY OF HISTOPLASMOSIS

    DTIC Science & Technology

    Histoplasmosis in adults can have an acute, subacute, or chronic course. In children, particularly in the early ages, the disease has an acute...this its clinical manifestations are extremely varied. Generalized histoplasmosis is accompanied by an irregular type fever, splenohepatomegaly, anemia, lymphadenopathy, and sharp emaciation.

  6. Integration of microarray analysis into the clinical diagnosis of hematological malignancies: How much can we improve cytogenetic testing?

    PubMed Central

    Peterson, Jess F.; Aggarwal, Nidhi; Smith, Clayton A.; Gollin, Susanne M.; Surti, Urvashi; Rajkovic, Aleksandar; Swerdlow, Steven H.; Yatsenko, Svetlana A.

    2015-01-01

    Purpose To evaluate the clinical utility, diagnostic yield and rationale of integrating microarray analysis in the clinical diagnosis of hematological malignancies in comparison with classical chromosome karyotyping/fluorescence in situ hybridization (FISH). Methods G-banded chromosome analysis, FISH and microarray studies using customized CGH and CGH+SNP designs were performed on 27 samples from patients with hematological malignancies. A comprehensive comparison of the results obtained by three methods was conducted to evaluate benefits and limitations of these techniques for clinical diagnosis. Results Overall, 89.7% of chromosomal abnormalities identified by karyotyping/FISH studies were also detectable by microarray. Among 183 acquired copy number alterations (CNAs) identified by microarray, 94 were additional findings revealed in 14 cases (52%), and at least 30% of CNAs were in genomic regions of diagnostic/prognostic significance. Approximately 30% of novel alterations detected by microarray were >20 Mb in size. Balanced abnormalities were not detected by microarray; however, of the 19 apparently “balanced” rearrangements, 55% (6/11) of recurrent and 13% (1/8) of non-recurrent translocations had alterations at the breakpoints discovered by microarray. Conclusion Microarray technology enables accurate, cost-effective and time-efficient whole-genome analysis at a resolution significantly higher than that of conventional karyotyping and FISH. Array-CGH showed advantage in identification of cryptic imbalances and detection of clonal aberrations in population of non-dividing cancer cells and samples with poor chromosome morphology. The integration of microarray analysis into the cytogenetic diagnosis of hematologic malignancies has the potential to improve patient management by providing clinicians with additional disease specific and potentially clinically actionable genomic alterations. PMID:26299921

  7. Clinical findings and diagnosis in genetic prion diseases in Germany.

    PubMed

    Krasnianski, Anna; Heinemann, Uta; Ponto, Claudia; Kortt, Jasmine; Kallenberg, Kai; Varges, Daniela; Schulz-Schaeffer, Walter J; Kretzschmar, Hans A; Zerr, Inga

    2016-02-01

    To describe the clinical syndrome and diagnostic tests in patients with genetic prion diseases (gPD) in Germany. Clinical features, MRI, EEG, and CSF markers were studied in 91 patients (28 D178N, 20 E200K, 17 inserts, 13 V210I, 8 P102L, 5 E196K). Dementia (35 %) and ataxia (29 %) were the most common initial symptoms and signs. A wide variety and high frequency of neurological/psychiatric symptoms and signs was found during disease course in all patients independently of the type of the mutation. Psychiatric manifestations were frequent (87 %). Neuropsychological abnormalities were observed in 67 %, and aphasia was the most common disturbance (45 %). In E200K, V210I and D178N patients, visual/oculomotor deficits were followed by ataxia early in the disease. Dementia followed by ataxia at onset was common in patients with insert and E196K mutation. P102L patients had isolated ataxia over a longer time period followed by pyramidal signs. Dementia was present only late in the disease course. All clinical routine tests such as MRI, EEG and CSF tests were less sensitive than in sporadic CJD. We provide the first detailed analysis of clinical signs and symptoms in a large group of patients with gPD. Frequency of clinical symptoms and signs was similar in different mutations in a later disease course, but the sequence of occurrence may be of great diagnostic importance. CSF markers were shown to be more sensitive than MRI and EEG.

  8. Clinical practice guideline on diagnosis and treatment of hyponatraemia.

    PubMed

    Spasovski, Goce; Vanholder, Raymond; Allolio, Bruno; Annane, Djillali; Ball, Steve; Bichet, Daniel; Decaux, Guy; Fenske, Wiebke; Hoorn, Ewout J; Hoorn, Ewout; Ichai, Carole; Joannidis, Michael; Soupart, Alain; Zietse, Robert; Haller, Maria; van der Veer, Sabine; Van Biesen, Wim; Nagler, Evi

    2014-03-01

    Hyponatraemia, defined as a serum sodium concentration <135 mmol/L, is the most common disorder of body fluid and electrolyte balance encountered in clinical practice. Hyponatraemia is present in 15-20% of emergency admissions to hospital and occurs in up to 20% of critically ill patients. Symptomatology may vary from subtle to severe or even life threatening. Despite this, the management of patients remains problematic. Against this background, the European Society of Intensive Care Medicine, the European Society of Endocrinology and the European Renal Association-European Dialysis and Transplant Association, represented by European Renal Best Practice have developed a Clinical Practice Guideline on the diagnostic approach and treatment of hyponatraemia as a joint venture of three societies representing specialists with a natural interest in hyponatraemia.

  9. Hereditary palmoplantar keratoderma "clinical and genetic differential diagnosis".

    PubMed

    Sakiyama, Tomo; Kubo, Akiharu

    2016-03-01

    Hereditary palmoplantar keratoderma (PPK) is a heterogeneous group of disorders characterized by hyperkeratosis of the palm and the sole skin. Hereditary PPK are divided into four groups--diffuse, focal, striate and punctate PPK--according to the clinical patterns of the hyperkeratotic lesions. Each group includes simple PPK, without associated features, and PPK with associated features, such as involvement of nails, teeth and other organs. PPK have been classified by a clinically based descriptive system. In recent years, many causative genes of PPK have been identified, which has confirmed and/or rearranged the traditional classifications. It is now important to diagnose PPK by a combination of the traditional morphological classification and genetic testing. In this review, we focus on PPK without associated features and introduce their morphological features, genetic backgrounds and new findings from the last decade.

  10. Nonurgent aortic disease: clinical-radiological diagnosis of aortitis.

    PubMed

    Cabero Moyano, J; Andreu Magarolas, M; Castañer González, E; Gallardo Cistaré, X; Belmonte Castan, E

    2013-01-01

    Aortitis is a pathological term designating inflammation of the aortic wall, regardless of its cause. The clinical presentation of aortitis is nonspecific and variable. Symptoms include abdominal pain, fever, and weight loss; acute phase reactants may also be elevated. Aortitis can be caused by a wide spectrum of entities, including from infectious processes to autoimmune diseases (Takayasu arteritis and giant cell arteritis are among the most common of these causing aortitis), and the prognosis and treatment of these entities vary widely. Various imaging techniques can be used to evaluate the lumen and wall of the aorta (such as multidetector computed tomography, magnetic resonance imaging, angiography, or PET-CT). This review focuses on the most common diseases that cause aortitis and on the clinical and radiological findings that are most useful for diagnosing and treating this condition appropriately.

  11. Prenatal genetic diagnosis of retinoblastoma – clinical correlates on follow-up

    PubMed Central

    Neriyanuri, Srividya; Raman, Rajiv; Rishi, Pukhraj; Govindasamy, Kumaramanickavel; Ramprasad, V L; Sharma, Tarun

    2015-01-01

    Retinoblastoma is the most common malignant intraocular tumor in pediatric age group if undetected leads to ocular mortality. Prenatal diagnosis is an emerging technology to detect fatal diseases in utero such that subsequent management is planned to reduce the ocular morbidity. We describe a case demonstrating the importance of prenatal diagnosis in a child with a strong family history of retinoblastoma and importance of a long-term clinical follow-up in these cases. PMID:26632134

  12. Tattoo complaints and complications: diagnosis and clinical spectrum.

    PubMed

    Serup, Jørgen; Carlsen, Katrina Hutton; Sepehri, Mitra

    2015-01-01

    Tattoos cause a broad range of clinical problems. Mild complaints, especially sensitivity to sun, are very common and seen in 1/5 of cases. Medical complications are dominated by allergy to tattoo pigment haptens or haptens generated in the skin, especially in red tattoos but also in blue and green tattoos. Symptoms are major and can be compared to cumbersome pruritic skin diseases. Tattoo allergies and local reactions show distinct clinical manifestations, with plaque-like, excessive hyperkeratotic, ulcero-necrotic, lymphopathic, neuro-sensory, and scar patterns. Reactions in black tattoos are papulo-nodular and non-allergic and associated with the agglomeration of nanoparticulate carbon black. Tattoo complications include effects on general health conditions and complications in the psycho-social sphere. Tattoo infections with bacteria, especially staphylococci, which may be resistant to multiple antibiotics, may be prominent and may progress into life-threatening sepsis. Contaminated tattoo ink is an open-window risk vector that can lead to epidemic tattoo infections across national borders due to contaminated bulk production. Hepatitis B and C and human immunodeficiency virus (HIV) transferred by tattooing remain a significant risk needing active prevention. It is noteworthy that cancer arising in tattoos, in regional lymph nodes, and in other organs due to tattoo pigments and ingredients has not been detected or noted as a significant clinical problem hitherto, despite millions of people being tattooed for decennia. Clinical observation and epidemiology disagree with register data, which indicate an increased risk of cancer due to chemical carcinogens present in some inks. Registers rely on chronic dosaging of cell lines and animals. However, tattooing in humans is essentially a single-dose exposure, which might explain the observed discrepancy.

  13. Characterization of supraventricular tachycardia in infants: clinical and instrumental diagnosis.

    PubMed

    Vignati, G; Annoni, G

    2008-01-01

    Supraventricular tachycardia (SVT) is the most common symptomatic arrhythmias in children. Re-entry tachycardias are the most common form, on the contrary automatic tachycardias are relatively rare. There are four types or re-entry: along anomalous pathway with bi-directional (Wolff-Parkinson-White) or unidirectional conduction, intranodal re-entry, intra-atrial re-entry that is common after surgical procedure, and finally the uncommon sinus node re-entry. Automatic tachycardias may be atrial or junctional. The different types of tachycardia have a different incidence according to the age: in the first year of age re-entry along anomalous pathway is the dominant form, while intranodal reentry becomes common during adolescence. The age at the beginning of tachycardia is important for long term prognosis. When SVT starts in the first months of life it disappears in 80% of cases within the first year of life; on the contrary, if tachycardia starts later spontaneous remission is detected in only 15%-20% of patients. In infancy heart failure is the more common presenting symptom, thereafter palpitations become the principal cause of recognition of SVT. Syncope is reported in about 8% of cases and in another 15% usually neonates and infants, the SVT has an occasional detection. Electrocardiogram (ecg) usually allows the precise diagnosis of various types of SVT, and every effort should be made to record ecg during tachycardia. The parameters that should be evaluated are: heart rate, P wave axis, PR and RP interval, and finally presence or absence of AV block. Short lasting episodes should be difficult to be recorded; in these cases cardio-call and trans-telephonic transmission represent useful techniques to obtain SVT demonstration. Patients with SVT require a complete evaluation with others diagnostic techniques: echocardiogram, Holter monitoring, stress test, that should be chosen according the type of tachycardia. Electrophysiologic evaluation is now rarely performed

  14. [Acquired platelet function disorders: pathogenesis, classification, frequency, diagnosis, clinical management].

    PubMed

    Scharf, R E

    2008-12-01

    Given the high consumption of pharmacological agents in western societies, it is not surprising at all that drugs represent the most common cause of acquired platelet dysfunction. While acetylsalicylic acid, clopigogrel and integrin alphaIIbbeta3 (GPIIb-IIIa) receptor antagonists are well-known as prototypes of antiplatelet drugs, other widely used agents including non-steroidal anti-inflammatory drugs, antibiotics, serotonin reuptake inhibitors, and volume expanders can also impair platelet function and cause or aggravate haemorrhages. Besides pharmacological agents, certain clinical conditions are often associated with qualitative platelet disorders and bleeding diathesis. Consequently, in contrast to inherited platelet disorders, acquired platelet function defects are much more frequent in clinical practice and deserve special attention. Their pathogenesis is widespread and heterogeneous with various, sometimes overlapping abnormalities. Moreover, acquired platelet dysfunctions can occur at any age and range in severity from mild to life-threatening haemorrhages. Due to their heterogeneity, acquired platelet function disorders will be classified and discussed according to the underlying clinical setting or disease.

  15. Development of transfer standard devices for ensuring the accurate calibration of ultrasonic physical therapy machines in clinical use

    NASA Astrophysics Data System (ADS)

    Hekkenberg, R. T.; Richards, A.; Beissner, K.; Zeqiri, B.; Prout, G.; Cantrall, Ch; Bezemer, R. A.; Koch, Ch; Hodnett, M.

    2004-01-01

    Physical therapy ultrasound is widely applied to patients. However, many devices do not comply with the relevant standard stating that the actual power output shall be within +/-20% of the device indication. Extreme cases have been reported: from delivering effectively no ultrasound or operating at maximum power at all powers indicated. This can potentially lead to patient injury as well as mistreatment. The present European (EC) project is an ongoing attempt to improve the quality of the treatment of patients being treated with ultrasonic physical-therapy. A Portable ultrasound Power Standard (PPS) is being developed and accurately calibrated. The PPS includes: Ultrasound transducers (including one exhibiting an unusual output) and a driver for the ultrasound transducers that has calibration and proficiency test functions. Also included with the PPS is a Cavitation Detector to determine the onset of cavitation occurring within the propagation medium. The PPS will be suitable for conducting in-the-field accreditation (proficiency testing and calibration). In order to be accredited it will be important to be able to show traceability of the calibration, the calibration process and qualification of testing staff. The clinical user will benefit from traceability because treatments will be performed more reliably.

  16. Miliary tuberculosis: epidemiology, clinical manifestations, diagnosis, and outcome.

    PubMed

    Kim, J H; Langston, A A; Gallis, H A

    1990-01-01

    During the early 1970s, attention was called to the changing demographics and poor prognosis of patients with miliary tuberculosis. Thirty-eight non-AIDS patients with miliary tuberculosis seen since 1975 are reviewed. Their average age was 60 years. Two-thirds of the patients had comorbid conditions. Presenting symptoms were nonspecific; fever, anorexia, sweats, and weight loss were the most frequent. Fever, tachypnea, rales, and altered mental status were the most commonly associated signs. Chest radiographs often showed miliary disease, but the remainder of the laboratory abnormalities were nonspecific. Seventy-six percent of sputum cultures, 75% of gastric aspirate cultures, 59% of urine cultures, and 54% of bronchial washings were positive for Mycobacterium tuberculosis. Biopsy specimens, including those obtained by transbronchial biopsy, were frequently abnormal histologically but were rarely culture-positive. Mortality attributable to miliary tuberculosis was 21%. Risk factors for death included female sex and altered mental status. No patient treated initially with a regimen that included streptomycin died whereas 21% of those treated with other regimens died. These data confirm and extend the results of earlier studies and suggest that miliary tuberculosis is a disease of the elderly and immunocompromised and is associated with significant morbidity and mortality. A high index of suspicion and diagnostic persistence are required for diagnosis.

  17. Clinical value of mammography in diagnosis and identification of breast mass

    PubMed Central

    Li, Hongjun; Zhang, Shanhua; Wang, Qingyuan; Zhu, Rongguang

    2016-01-01

    Objective: To study the effect and clinical value of mammography in the diagnosis of breast lump so as to improve the diagnosis level of breast cancer. Methods: A retrospective analysis was carried out on clinical data of 110 patients with mammary lump confirmed by pathology to study the compliance of mammography diagnosis and Pathology diagnosis in breast lump, and the detection of microcalcifications, phyllode, and observe the image performance of mammography. Taking infitrating ductal carcinoma (IDC) as an example, the correlation of image performance and clinical pathological features of different types was studied so as to predict if mammography performance was effective in the treatment and prognosis in breast cancer. Results: Taking Breast Imaging Reporting and Data System (BI-RADS) grade 4A as the critical point, the sensitivity, specificity and accuracy of mammography was 90.80% (109/120), 84.60% (126/149) and 87.40% (235/269); taking BI-RADS grade 4B as the critical point, the sensitivity, specificity and accuracy of mammography was 85.00% (102/120), 93.30% (139/149) and 89.60% (241/269); the correlation analysis suggested that, there was some kind of correlation between the mammography performance and clinical features of breast cancer. Conclusion: Mammography is worth being promoted in clinic for its significant clinical value in diagnosing and identifying breast lump. PMID:27648060

  18. New insights into the diagnosis of hidradenitis suppurativa: Clinical presentations and phenotypes.

    PubMed

    van der Zee, Hessel H; Jemec, Gregor B E

    2015-11-01

    Current classifications for hidradenitis suppurativa (HS), such as the Hurley staging system, are not very specific. The absence of rigorous classifications is incongruous with the clinical variability of the condition. There is no pathognomonic sign for HS that leads to a diagnosis that is unquestionable. Consequently, diagnosis is made largely through clinical presentation of the condition. The use of several validated tools assists in confirming the diagnosis and the severity of the disease. In future investigations, the identification of phenotypes and clinical subtypes--taking into account genetic variants--will serve to identify subpopulations of patients who are responsive to particular therapies, thereby improving the overall therapeutic picture for patients with HS. There is a potential for personalized, tailored delivery of therapy in the HS setting.

  19. Diagnosis and Clinical Genetics of Cushing Syndrome in Pediatrics.

    PubMed

    Stratakis, Constantine A

    2016-06-01

    Endogenous Cushing syndrome (CS) in pediatrics is rare; it may be caused by tumors that produce corticotropin in the pituitary gland or elsewhere, tumors that produce corticotropin-releasing hormone anywhere, and adrenocortical masses that produce cortisol. Adrenocortical cancer is a rare cause of CS in children but should be excluded first. CS in children is often caused by germline or somatic mutations with implications for patient prognosis and for their families. CS should be recognized early in children; otherwise, it can lead to significant morbidity and mortality. Patients with suspected CS should be referred to specialized clinical centers for workup.

  20. Clinical practice guidelines for the diagnosis and management of osteoporosis. Scientific Advisory Board, Osteoporosis Society of Canada.

    PubMed Central

    1996-01-01

    OBJECTIVE: To recommend clinical practice guidelines for the assessment of people at risk for osteoporosis, and for effective diagnosis and management of the condition. OPTIONS: Screening and diagnostic methods: risk-factor assessment, clinical evaluation, measurement of bone mineral density, laboratory investigations. Prophylactic and corrective therapies: calcium and vitamin D nutritional supplementation, physical activity and fall-avoidance techniques, ovarian hormone therapy, bisphosphonate drugs, other drug therapies. Pain-management medications and techniques. OUTCOMES: Prevention of loss of bone mineral density and fracture; increased bone mass; and improved quality of life. EVIDENCE: Epidemiologic and clinical studies and reports were examined, with emphasis on recent randomized controlled trials. Clinical practice in Canada and elsewhere was surveyed. Availability of treatment products and diagnostic equipment in Canada was considered. VALUES: Cost-effective methods and products that can be adopted across Canada were considered. A high value was given to accurate assessment of fracture risk and osteoporosis, and to increasing bone mineral density, reducing fractures and fracture risk and minimizing side effects of diagnosis and treatment. BENEFITS, HARMS AND COSTS: Proper diagnosis and management of osteoporosis minimize injury and disability, improve quality of life for patients and reduce costs to society. Rationally targeted methods of screening and diagnosis are safe and cost effective. Harmful side effects and costs of recommended therapies are minimal compared with the harms and costs of untreated osteoporosis. Alternative therapies provide a range of choices for physicians and patients. RECOMMENDATIONS: Population sets at high risk should be identified and then the diagnosis confirmed through bone densitometry. Dual-energy x-ray absorptiometry is the preferred measurement technique. Radiography can be adjunct when indicated. Calcium and vitamin D

  1. Osteogenesis imperfecta: clinical diagnosis, nomenclature and severity assessment.

    PubMed

    Van Dijk, F S; Sillence, D O

    2014-06-01

    Recently, the genetic heterogeneity in osteogenesis imperfecta (OI), proposed in 1979 by Sillence et al., has been confirmed with molecular genetic studies. At present, 17 genetic causes of OI and closely related disorders have been identified and it is expected that more will follow. Unlike most reviews that have been published in the last decade on the genetic causes and biochemical processes leading to OI, this review focuses on the clinical classification of OI and elaborates on the newly proposed OI classification from 2010, which returned to a descriptive and numerical grouping of five OI syndromic groups. The new OI nomenclature and the pre-and postnatal severity assessment introduced in this review, emphasize the importance of phenotyping in order to diagnose, classify, and assess severity of OI. This will provide patients and their families with insight into the probable course of the disorder and it will allow physicians to evaluate the effect of therapy. A careful clinical description in combination with knowledge of the specific molecular genetic cause is the starting point for development and assessment of therapy in patients with heritable disorders including OI. © 2014 The Authors. American Journal of Medical Genetics Published by Wiley Periodicals, Inc. This is an open access article under the terms of the Creative Commons Attribution-NonCommercial-NoDerivs License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non-commercial and no modifications or adaptations are made.

  2. [Obsessive-compulsive disorder--clinical picture, diagnosis, and therapy].

    PubMed

    Zaudig, Michael

    2011-01-01

    This article reviews the present state of knowledge concerning obsessive-compulsive disorder (OCD) with respect to its classification, epidemiology, pathogenesis, and therapy. Epidemiological evidence has indicated that OCD may be one of the most prevalent and disabling psychiatric disorders. There is also a high comorbidity with depression and anxiety disorders. OCD is characterized by repetitive, intrusive thoughts and images, and/or by repetitive, ritualistic physical or mental acts performed to reduce the attended anxiety. OCD is relatively common, affecting 1-3% of both adult and paediatric samples. OCD is clinically a heterogeneous condition in that two different patients with clear OCD can display completely distinct symptom patterns. Furthermore, neurobiological and psychological models concerning OCD as well as the present state of therapy are presented in detail.

  3. A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies

    PubMed Central

    Leventer, Richard J.; van der Knaap, Marjo S.; van Hove, Johan; Pizzino, Amy; McNeill, Nathan H.; Helman, Guy; Simons, Cas; Schmidt, Johanna L.; Rizzo, William B.

    2015-01-01

    Leukodystrophies (LD) and genetic leukoencephalopathies (gLE) are disorders that result in white matter abnormalities in the central nervous system (CNS). Magnetic resonance (MR) imaging (MRI) has dramatically improved and systematized the diagnosis of LDs and gLEs, and in combination with specific clinical features, such as Addison's disease in Adrenoleukodystrophy or hypodontia in Pol-III related or 4H leukodystrophy, can often resolve a case with a minimum of testing. The diagnostic odyssey for the majority LD and gLE patients, however, remains extensive – many patients will wait nearly a decade for a definitive diagnosis and at least half will remain unresolved. The combination of MRI, careful clinical evaluation and next generation genetic sequencing holds promise for both expediting the diagnostic process and dramatically reducing the number of unresolved cases. Here we present a workflow detailing the Global Leukodystrophy Initiative (GLIA) consensus recommendations for an approach to clinical diagnosis, including salient clinical features suggesting a specific diagnosis, neuroim-aging features and molecular genetic testing. We also discuss recommendations on the use of broad-spectrum next-generation sequencing in instances of ambiguous MRI or clinical findings. We conclude with a proposal for systematic trials of genome-wide agnostic testing as a first line diagnostic in LDs and gLEs given the increasing number of genes associated with these disorders. PMID:25655951

  4. Non specific aorto-arteritis. Clinical picture, diagnosis and therapy.

    PubMed

    Miani, S; De Monti, M; Keller, G; Bordoni, M G; Bianchi, E; Giordanengo, F

    1999-06-01

    This study is aimed at analyzing clinical features, angiographic findings and evolution of Takayasu's arteritis and the criteria adopted to establish the indication for non-surgical versus operative treatment. Eighteen patients affected by non specific aortarteritis were observed and treated at our Department between 1973 and 1996. All patients met the American College of Rheumatology 1990 criteria of classification of Takayasu's arteritis. Sixteen patients were young females. Two patients were males. Nine patients underwent surgical procedures. One young female underwent a PTA. All eight asymptomatic patients were only medically treated. One patient died some days after an aorto-bicarotid bypass graft due to acute myocardial infarction. Two other patients died two and four years after intervention for renal and cardiac failure respectively. One patient after an aorto bicarotid bypass underwent a left hemiplegia due to thrombosis of the right graft branch. All the other 14 patients either surgically or medically treated are well and are under strict surveillance through rigorous follow-up. The 10 patients who underwent surgical or interventional radiological treatment were certainly the most seriously affected patients and were symptomatic (presented neurological disturbances or a severe hypertensive state). This fact explains, to some extent, the mortality and morbidity rate observed in this group. The seven medically treated patients were completely asymptomatic in spite of a major involvement of various vascular districts.

  5. Pfeiffer syndrome update, clinical subtypes, and guidelines for differential diagnosis.

    PubMed

    Cohen, M M

    1993-02-01

    Steven Pfeiffer syndrome pedigrees (three 3 generation and four 2 generation) have been recorded to date in addition to at least a dozen sporadic cases. Autosomal dominant inheritance with complete penetrance is characteristic of the 7 familial instances. Variable expressivity has involved mostly the presence or absence of syndactyly and the degree of syndactyly when present. Classic Pfeiffer syndrome is designated type I. Type 2 consists of cloverleaf skull with Pfeiffer hands and feet together with ankylosis of the elbows. Such patients do poorly with an early death. All reported instances to date have been sporadic. Type 3 is similar to type 2 but without cloverleaf skull. Ocular proptosis is severe in degree and the anterior cranial base is markedly short. These patients also do poorly and tend to have an early death. To date all cases have occurred sporadically. Although these 3 clinical subtypes do not have status as separate entities, their diagnostic and prognostic implications are important. Type 1 is commonly associated with normal intelligence, generally good outcome, and can be found dominantly inherited in some families. Types 2 and 3 generally have severe neurological compromise, poor prognosis, early death, and sporadic occurrence. Recognition of type 3 is particularly important because extreme ocular proptosis in the absence of cloverleaf skull but with various visceral anomalies can result in failure to diagnose Pfeiffer syndrome and labeling the patient as an "unknown" or as a "newly recognized entity."(ABSTRACT TRUNCATED AT 250 WORDS)

  6. Diagnosis, prognosis, and clinical management of mild traumatic brain injury.

    PubMed

    Levin, Harvey S; Diaz-Arrastia, Ramon R

    2015-05-01

    Concussion and mild traumatic brain injury (TBI) are interchangeable terms to describe a common disorder with substantial effects on public health. Advances in brain imaging, non-imaging biomarkers, and neuropathology during the past 15 years have required researchers, clinicians, and policy makers to revise their views about mild TBI as a fully reversible insult that can be repeated without consequences. These advances have led to guidelines on management of mild TBI in civilians, military personnel, and athletes, but their widespread dissemination to clinical management in emergency departments and community-based health care is still needed. The absence of unity on the definition of mild TBI, the scarcity of prospective data concerning the long-term effects of repeated mild TBI and subconcussive impacts, and the need to further develop evidence-based interventions to mitigate the long-term sequelae are areas for future research that will improve outcomes, reduce morbidity and costs, and alleviate delayed consequences that have only recently come to light.

  7. Sickle cell trait diagnosis: clinical and social implications

    PubMed Central

    Naik, Rakhi P.; Haywood, Carlton

    2015-01-01

    The sickle hemoglobin (HbS) point mutation has independently undergone evolutionary selection at least five times in the world because of its overwhelming malarial protective effects in the heterozygous state. In 1949, homozygous Hb S or sickle cell disease (SCD) became the first inherited condition identified at the molecular level; however, since then, both SCD and heterozygous Hb S, sickle cell trait (SCT), have endured a long and complicated history. Hasty adoption of early mass screening programs for SCD, recent implementation of targeted screening mandates for SCT in athletics, and concerns about stigmatization have evoked considerable controversy regarding research and policy decisions for SCT. Although SCT is a largely protective condition in the context of malaria, clinical sequelae, such as exercise-related injury, renal complications, and venous thromboembolism can occur in affected carriers. The historical background of SCD and SCT has provided lessons about how research should be conducted in the modern era to minimize stigmatization, optimize study conclusions, and inform genetic counseling and policy decisions for SCT. PMID:26637716

  8. High-Throughput Sequencing, a Versatile Weapon to Support Genome-Based Diagnosis in Infectious Diseases: Applications to Clinical Bacteriology

    PubMed Central

    Caboche, Ségolène; Audebert, Christophe; Hot, David

    2014-01-01

    The recent progresses of high-throughput sequencing (HTS) technologies enable easy and cost-reduced access to whole genome sequencing (WGS) or re-sequencing. HTS associated with adapted, automatic and fast bioinformatics solutions for sequencing applications promises an accurate and timely identification and characterization of pathogenic agents. Many studies have demonstrated that data obtained from HTS analysis have allowed genome-based diagnosis, which has been consistent with phenotypic observations. These proofs of concept are probably the first steps toward the future of clinical microbiology. From concept to routine use, many parameters need to be considered to promote HTS as a powerful tool to help physicians and clinicians in microbiological investigations. This review highlights the milestones to be completed toward this purpose. PMID:25437800

  9. The Role of Clinical Proteomics, Lipidomics, and Genomics in the Diagnosis of Alzheimer’s Disease

    PubMed Central

    Martins, Ian James

    2016-01-01

    The early diagnosis of Alzheimer’s disease (AD) has become important to the reversal and treatment of neurodegeneration, which may be relevant to premature brain aging that is associated with chronic disease progression. Clinical proteomics allows the detection of various proteins in fluids such as the urine, plasma, and cerebrospinal fluid for the diagnosis of AD. Interest in lipidomics has accelerated with plasma testing for various lipid biomarkers that may with clinical proteomics provide a more reproducible diagnosis for early brain aging that is connected to other chronic diseases. The combination of proteomics with lipidomics may decrease the biological variability between studies and provide reproducible results that detect a community’s susceptibility to AD. The diagnosis of chronic disease associated with AD that now involves genomics may provide increased sensitivity to avoid inadvertent errors related to plasma versus cerebrospinal fluid testing by proteomics and lipidomics that identify new disease biomarkers in body fluids, cells, and tissues. The diagnosis of AD by various plasma biomarkers with clinical proteomics may now require the involvement of lipidomics and genomics to provide interpretation of proteomic results from various laboratories around the world. PMID:28248224

  10. Differential diagnosis between Crohn’s disease and intestinal tuberculosis using integrated parameters including clinical manifestations, T-SPOT, endoscopy and CT enterography

    PubMed Central

    Zhang, Tianyu; Fan, Rong; Wang, Zhengting; Hu, Shurong; Zhang, Maochen; Lin, Yun; Tang, Yonghua; Zhong, Jie

    2015-01-01

    Background: The aim of the study was to evaluate clinical manifestations, T-SPOT, endoscopy and CT enterography to differentiate Crohn’s disease (CD) from intestinal tuberculosis (ITB). Methods: 128 in patients with suspected CD and ITB were prospectively enrolled in the study. Demographic, clinical, laboratory, endoscopic and CT enterographic data were collected. After treatment for 6 months, when a definite diagnosis was reached, the differential diagnostic value of each parameter was analyzed. Multivariable logistic regression was used to analyze further, parameters of statistical significance to establish a mathematical regression equation. Receiver operating characteristic curves were plotted. Results: Clinical parameters helpful in differentiating CD from ITB included diarrhea, night sweat and perianal disease. Endoscopic parameters were useful in differentiating CD from ITB including transverse ulcers, longitudinal ulcers, rodent-like ulcers and patulous ileocecal valve. CT enterographic parameters aided the identification of the two conditions. The sensitivity, specificity, accuracy, positive predictive value and negative predictive value of a mathematical regression model established for 6 parameters of clinical endoscopy and CT enterography were 97.8%, 96.8%, 97.6%, 98.9% and 93.7% respectively, whereas those for T-SPOT were 96.8%, 91.3%, 92.7%, 78.9% and 98.8% respectively. Conclusions: T-SPOT is useful to exclude a diagnosis of ITB. Differentiating CD from ITB is a difficult clinical problem that requires a consideration of clinical, T-SPOT, endoscopic and CT enterographic parameters for accurate diagnosis. PMID:26770348

  11. Diagnosis of Human Axillary Osmidrosis by Genotyping of the Human ABCC11 Gene: Clinical Practice and Basic Scientific Evidence

    PubMed Central

    Toyoda, Yu; Gomi, Tsuneaki; Nakagawa, Hiroshi; Nagakura, Makoto; Ishikawa, Toshihisa

    2016-01-01

    The importance of personalized medicine and healthcare is becoming increasingly recognized. Genetic polymorphisms associated with potential risks of various human genetic diseases as well as drug-induced adverse reactions have recently been well studied, and their underlying molecular mechanisms are being uncovered by functional genomics as well as genome-wide association studies. Knowledge of certain genetic polymorphisms is clinically important for our understanding of interindividual differences in drug response and/or disease risk. As such evidence accumulates, new clinical applications and practices are needed. In this context, the development of new technologies for simple, fast, accurate, and cost-effective genotyping is imperative. Here, we describe a simple isothermal genotyping method capable of detecting single nucleotide polymorphisms (SNPs) in the human ATP-binding cassette (ABC) transporter ABCC11 gene and its application to the clinical diagnosis of axillary osmidrosis. We have recently reported that axillary osmidrosis is linked with one SNP 538G>A in the ABCC11 gene. Our molecular biological and biochemical studies have revealed that this SNP greatly affects the protein expression level and the function of ABCC11. In this review, we highlight the clinical relevance and importance of this diagnostic strategy in axillary osmidrosis therapy. PMID:27057547

  12. Clinical phenotype network: the underlying mechanism for personalized diagnosis and treatment of traditional Chinese medicine.

    PubMed

    Zhou, Xuezhong; Li, Yubing; Peng, Yonghong; Hu, Jingqing; Zhang, Runshun; He, Liyun; Wang, Yinghui; Jiang, Lijie; Yan, Shiyan; Li, Peng; Xie, Qi; Liu, Baoyan

    2014-09-01

    Traditional Chinese medicine (TCM) investigates the clinical diagnosis and treatment regularities in a typical schema of personalized medicine, which means that individualized patients with same diseases would obtain distinct diagnosis and optimal treatment from different TCM physicians. This principle has been recognized and adhered by TCM clinical practitioners for thousands of years. However, the underlying mechanisms of TCM personalized medicine are not fully investigated so far and remained unknown. This paper discusses framework of TCM personalized medicine in classic literatures and in real-world clinical settings, and investigates the underlying mechanisms of TCM personalized medicine from the perspectives of network medicine. Based on 246 well-designed outpatient records on insomnia, by evaluating the personal biases of manifestation observation and preferences of herb prescriptions, we noted significant similarities between each herb prescriptions and symptom similarities between each encounters. To investigate the underlying mechanisms of TCM personalized medicine, we constructed a clinical phenotype network (CPN), in which the clinical phenotype entities like symptoms and diagnoses are presented as nodes and the correlation between these entities as links. This CPN is used to investigate the promiscuous boundary of syndromes and the co-occurrence of symptoms. The small-world topological characteristics are noted in the CPN with high clustering structures, which provide insight on the rationality of TCM personalized diagnosis and treatment. The investigation on this network would help us to gain understanding on the underlying mechanism of TCM personalized medicine and would propose a new perspective for the refinement of the TCM individualized clinical skills.

  13. A Clinical Model for the Diagnosis and Management of Patients with Cervical Spine Syndromes

    PubMed Central

    Murphy, Donald R.

    2004-01-01

    Background: Disorders of the cervical spine are common and often disabling. The etiology of these disorders is often multifactorial and a comprehensive approach to both diagnosis and management is essential to successful resolution. Objective: This article provides an overview of a clinical model of the diagnosis and management of patients with disorders related to the cervical spine. This model is based in part on the scientific literature, clinical experience, and communication with other practitioners over the course of the past 20 years. Discussion: The clinical model presented here involves taking a systematic approach to diagnosis, and management. The diagnostic process is one that asks three essential questions. The answers to these questions then guides the management process, allowing the physician to apply specific methods that address the many factors that can be involved in each individual patient. This clinical model allows the physician to individualize the management strategy while utilizing principles that can be applied to all patients. At times, the management strategy must be multidisciplinary, and cooperation with other physicians and therapists is often necessary for effective patient care. This model is currently being used by the author in practice, as well as forming the basis upon which further research can be conducted to refine or, if necessary, abandon any of its aspects, as the evidence dictates. It is the purpose of this paper to present this clinical model and the clinical and scientific evidence, or lack thereof, of its components. PMID:17987214

  14. Children and Youth with Fetal Alcohol Spectrum Disorders: Summary of Intervention Recommendations after Clinical Diagnosis

    ERIC Educational Resources Information Center

    Jirikowic, Tracy; Gelo, Julie; Astley, Susan

    2010-01-01

    Children with fetal alcohol spectrum disorders (FASDs) present with a wide range of developmental disabilities; however, clinical standards of care after a diagnosis are not well established. This retrospective review summarizes the types of intervention recommendations generated by an interdisciplinary FASD diagnostic team for 120 children ages…

  15. Clinical Validation of the "Sedentary Lifestyle" Nursing Diagnosis in Secondary School Students

    ERIC Educational Resources Information Center

    de Oliveira, Marcos Renato; da Silva, Viviane Martins; Guedes, Nirla Gomes; de Oliveira Lopes, Marcos Venícios

    2016-01-01

    This study clinically validated the nursing diagnosis of "sedentary lifestyle" (SL) among 564 Brazilian adolescents. Measures of diagnostic accuracy were calculated for defining characteristics, and Mantel--Haenszel analysis was used to identify related factors. The measures of diagnostic accuracy showed that the following defining…

  16. Demographic and Clinical Correlates of Autism Symptom Domains and Autism Spectrum Diagnosis

    ERIC Educational Resources Information Center

    Frazier, Thomas W.; Youngstrom, Eric A.; Embacher, Rebecca; Hardan, Antonio Y.; Constantino, John N.; Law, Paul; Findling, Robert L.; Eng, Charis

    2014-01-01

    Demographic and clinical factors may influence assessment of autism symptoms. This study evaluated these correlates and also examined whether social communication and interaction and restricted/repetitive behavior provided unique prediction of autism spectrum disorder diagnosis. We analyzed data from 7352 siblings included in the Interactive…

  17. Accuracy of the Clinical Diagnosis of Vaginitis Compared to a DNA Probe Laboratory Standard

    PubMed Central

    Lowe, Nancy K.; Neal, Jeremy L.; Ryan-Wenger, Nancy A.

    2009-01-01

    Objective To estimate the accuracy of the clinical diagnosis of the three most common causes of acute vulvovaginal symptoms (bacterial vaginosis, candidiasis vaginitis, and trichomoniasis vaginalis) using a traditional, standardized clinical diagnostic protocol compared to a DNA probe laboratory standard. Methods This prospective clinical comparative study had a sample of 535 active duty United States military women presenting with vulovaginal symptoms. Clinical diagnoses were made by research staff using a standardized protocol of history, physical examination including pelvic examination, determination of vaginal pH, vaginal fluid amines test, and wet-prep microscopy. Vaginal fluid samples were obtained for DNA analysis. The research clinicians were blinded to the DNA results. Results The participants described a presenting symptom of abnormal discharge (50%), itching/irritation (33%), malodor (10%), burning (4%), or others such as vulvar pain and vaginal discomfort. According to laboratory standard, there were 225 cases (42%) of bacterial vaginosis 76 cases (14%) of candidiasis vaginitis, 8 cases (1.5%) of trichomoniasis vaginalis, 87 cases of mixed infections (16%), and 139 negative cases (26%). For each single infection, the clinical diagnosis had a sensitivity and specificity of 80.8% and 70.0% for bacterial vaginosis; 83.8% and 84.8% for candidiasis vaginitis; and 84.6% and 99.6% for trichomoniasis vaginalis when compared to the DNA probe standard. Conclusion Compared to a DNA probe standard, clinical diagnosis is 81-85% sensitive and 70- 99% specific for bacterial vaginosis, candida vaginitis, and trichomoniasis. Even under research conditions that provided clinicians with sufficient time and materials to conduct a thorough and standardized clinical evaluation, the diagnosis and therefore, subsequent treatment of these common vaginal problems remains difficult. PMID:19104364

  18. Clinical evaluation of mtp40 polymerase chain reaction for the diagnosis of extra pulmonary tuberculosis.

    PubMed

    Kathirvel, Maruthai; Kommoju, Vallayyachari; Brammacharry, Usharani; Ravibalan, Thirumurugan; Ravishankar, Nandikolla; Radhakrishnan, Balu; Muthaiah, Muthuraj

    2014-05-01

    Rapid and sensitive detection of Mycobacterium tuberculosis from patient samples is vital for clinical diagnosis and treatment. The emergence of M. tuberculosis strains with either no copies or only a single copy of IS6110 in Asian countries makes the standard PCR based diagnosis of M. tuberculosis using IS6110 not reliable. We studied the diagnostic efficacy of the in-house PCR amplification of the candidate gene mtp40 as an alternative to IS6110 element based diagnosis. Clinical samples included pulmonary and extra-pulmonary specimens from TB suspected patients residing in Puducherry, South India and were analyzed using in-house PCR procedures targeting IS6110 element and mtp40 genes. Out of 317 clinical specimens analyzed, 132 (41.6 %) and 114 (36 %) were found positive for mtp40 PCR and IS6110 PCR, respectively. However, 18 specimens that were found to negative for IS6110 PCR were found positive for mtp40 PCR, which was further confirmed by DNA sequencing method. PCR amplification of mtp40 gene for the diagnosis of M. tuberculosis in clinical samples is fast, sensitive, and further identified clinical strains that lack IS6110 element in this region. It is clearly demonstrated that there is a significant difference between the two PCR procedures and the sensitivity and specificity levels of mtp40 PCR were found to be higher when compared with DNA sequencing method. Thus, mtp40 based PCR technique will be beneficial in diagnosis of TB where M. tuberculosis strains lack of IS6110 element is predominant.

  19. Rapid and Accurate Detection of Mycobacterium tuberculosis in Sputum Samples by Cepheid Xpert MTB/RIF Assay—A Clinical Validation Study

    PubMed Central

    Rachow, Andrea; Zumla, Alimuddin; Heinrich, Norbert; Rojas-Ponce, Gabriel; Mtafya, Bariki; Reither, Klaus; Ntinginya, Elias N.; O'Grady, Justin; Huggett, Jim; Dheda, Keertan; Boehme, Catharina; Perkins, Mark; Saathoff, Elmar; Hoelscher, Michael

    2011-01-01

    Background A crucial impediment to global tuberculosis control is the lack of an accurate, rapid diagnostic test for detection of patients with active TB. A new, rapid diagnostic method, (Cepheid) Xpert MTB/RIF Assay, is an automated sample preparation and real-time PCR instrument, which was shown to have good potential as an alternative to current reference standard sputum microscopy and culture. Methods We performed a clinical validation study on diagnostic accuracy of the Xpert MTB/RIF Assay in a TB and HIV endemic setting. Sputum samples from 292 consecutively enrolled adults from Mbeya, Tanzania, with suspected TB were subject to analysis by the Xpert MTB/RIF Assay. The diagnostic performance of Xpert MTB/RIF Assay was compared to standard sputum smear microscopy and culture. Confirmed Mycobacterium tuberculosis in a positive culture was used as a reference standard for TB diagnosis. Results Xpert MTB/RIF Assay achieved 88.4% (95%CI = 78.4% to 94.9%) sensitivity among patients with a positive culture and 99% (95%CI = 94.7% to 100.0%) specificity in patients who had no TB. HIV status did not affect test performance in 172 HIV-infected patients (58.9% of all participants). Seven additional cases (9.1% of 77) were detected by Xpert MTB/RIF Assay among the group of patients with clinical TB who were culture negative. Within 45 sputum samples which grew non-tuberculous mycobacteria the assay's specificity was 97.8% (95%CI = 88.2% to 99.9%). Conclusions The Xpert MTB/RIF Assay is a highly sensitive, specific and rapid method for diagnosing TB which has potential to complement the current reference standard of TB diagnostics and increase its overall sensitivity. Its usefulness in detecting sputum smear and culture negative patients needs further study. Further evaluation in high burden TB and HIV areas under programmatic health care settings to ascertain applicability, cost-effectiveness, robustness and local acceptance are required. PMID:21738575

  20. Validity of Footprint Analysis to Determine Flatfoot Using Clinical Diagnosis as the Gold Standard in a Random Sample Aged 40 Years and Older

    PubMed Central

    Pita-Fernández, Salvador; González-Martín, Cristina; Seoane-Pillado, Teresa; López-Calviño, Beatriz; Pértega-Díaz, Sonia; Gil-Guillén, Vicente

    2015-01-01

    Background Research is needed to determine the prevalence and variables associated with the diagnosis of flatfoot, and to evaluate the validity of three footprint analysis methods for diagnosing flatfoot, using clinical diagnosis as a benchmark. Methods We conducted a cross-sectional study of a population-based random sample ≥40 years old (n = 1002) in A Coruña, Spain. Anthropometric variables, Charlson’s comorbidity score, and podiatric examination (including measurement of Clarke’s angle, the Chippaux-Smirak index, and the Staheli index) were used for comparison with a clinical diagnosis method using a podoscope. Multivariate regression was performed. Informed patient consent and ethical review approval were obtained. Results Prevalence of flatfoot in the left and right footprint, measured using the podoscope, was 19.0% and 18.9%, respectively. Variables independently associated with flatfoot diagnosis were age (OR 1.07), female gender (OR 3.55) and BMI (OR 1.39). The area under the receiver operating characteristic curve (AUC) showed that Clarke’s angle is highly accurate in predicting flatfoot (AUC 0.94), followed by the Chippaux-Smirak (AUC 0.83) and Staheli (AUC 0.80) indices. Sensitivity values were 89.8% for Clarke’s angle, 94.2% for the Chippaux-Smirak index, and 81.8% for the Staheli index, with respective positive likelihood ratios or 9.7, 2.1, and 2.0. Conclusions Age, gender, and BMI were associated with a flatfoot diagnosis. The indices studied are suitable for diagnosing flatfoot in adults, especially Clarke’s angle, which is highly accurate for flatfoot diagnosis in this population. PMID:25382154

  1. Demographic and clinical correlates of autism symptom domains and autism spectrum diagnosis.

    PubMed

    Frazier, Thomas W; Youngstrom, Eric A; Embacher, Rebecca; Hardan, Antonio Y; Constantino, John N; Law, Paul; Findling, Robert L; Eng, Charis

    2014-07-01

    Demographic and clinical factors may influence assessment of autism symptoms. This study evaluated these correlates and also examined whether social communication and interaction and restricted/repetitive behavior provided unique prediction of autism spectrum disorder diagnosis. We analyzed data from 7352 siblings included in the Interactive Autism Network registry. Social communication and interaction and restricted/repetitive behavior symptoms were obtained using caregiver-reports on the Social Responsiveness Scale. Demographic and clinical correlates were covariates in regression models predicting social communication and interaction and restricted/repetitive behavior symptoms. Logistic regression and receiver operating characteristic curve analyses evaluated the incremental validity of social communication and interaction and restricted/repetitive behavior domains over and above global autism symptoms. Autism spectrum disorder diagnosis was the strongest correlate of caregiver-reported social communication and interaction and restricted/repetitive behavior symptoms. The presence of comorbid diagnoses also increased symptom levels. Social communication and interaction and restricted/repetitive behavior symptoms provided significant, but modest, incremental validity in predicting diagnosis beyond global autism symptoms. These findings suggest that autism spectrum disorder diagnosis is by far the largest determinant of quantitatively measured autism symptoms. Externalizing (attention deficit hyperactivity disorder) and internalizing (anxiety) behavior, low cognitive ability, and demographic factors may confound caregiver-report of autism symptoms, potentially necessitating a continuous norming approach to the revision of symptom measures. Social communication and interaction and restricted/repetitive behavior symptoms may provide incremental validity in the diagnosis of autism spectrum disorder.

  2. Clinical application of brain imaging for the diagnosis of mood disorders: the current state of play.

    PubMed

    Savitz, J B; Rauch, S L; Drevets, W C

    2013-05-01

    In response to queries about whether brain imaging technology has reached the point where it is useful for making a clinical diagnosis and for helping to guide treatment selection, the American Psychiatric Association (APA) has recently written a position paper on the Clinical Application of Brain Imaging in Psychiatry. The following perspective piece is based on our contribution to this APA position paper, which specifically emphasized the application of neuroimaging in mood disorders. We present an introductory overview of the challenges faced by researchers in developing valid and reliable biomarkers for psychiatric disorders, followed by a synopsis of the extant neuroimaging findings in mood disorders, and an evidence-based review of the current research on brain imaging biomarkers in adult mood disorders. Although there are a number of promising results, by the standards proposed below, we argue that there are currently no brain imaging biomarkers that are clinically useful for establishing diagnosis or predicting treatment outcome in mood disorders.

  3. A Bayesian evaluation of four immunological assays for the diagnosis of clinical cryptosporidiosis in calves.

    PubMed

    Geurden, Thomas; Claerebout, Edwin; Vercruysse, Jozef; Berkvens, Dirk

    2008-06-01

    A Bayesian approach was used to evaluate four immunological assays for the clinical diagnosis of cryptosporidiosis in calves: an immunofluorescence assay (IFA), two ELISA tests and an immunochromatographic (dipstick) assay. Faecal samples from 287 calves aged less than 6 weeks with clinical signs of gastrointestinal disease were examined for the presence of Cryptosporidium spp. The high prevalence (63%) of Cryptosporidium spp. indicated the relevance of this agent in the aetiology of diarrhoea in calves. All diagnostic assays were found to be relatively specific (IFA: 94.8%; Tetra ELISA: 95.9%; Techlab ELISA: 92.7%; dipstick assay: 91.5%) and sensitive (IFA: 97.4%; Tetra ELISA: 93.6%; Techlab ELISA: 95.4%; dipstick: 87.8%). Despite a lower sensitivity, the dipstick assay provided a practical alternative to laboratory diagnosis of clinical cryptosporidiosis in calves.

  4. Clinical application of brain imaging for the diagnosis of mood disorders: the current state of play

    PubMed Central

    Savitz, J B; Rauch, S L; Drevets, W C

    2013-01-01

    In response to queries about whether brain imaging technology has reached the point where it is useful for making a clinical diagnosis and for helping to guide treatment selection, the American Psychiatric Association (APA) has recently written a position paper on the Clinical Application of Brain Imaging in Psychiatry. The following perspective piece is based on our contribution to this APA position paper, which specifically emphasized the application of neuroimaging in mood disorders. We present an introductory overview of the challenges faced by researchers in developing valid and reliable biomarkers for psychiatric disorders, followed by a synopsis of the extant neuroimaging findings in mood disorders, and an evidence-based review of the current research on brain imaging biomarkers in adult mood disorders. Although there are a number of promising results, by the standards proposed below, we argue that there are currently no brain imaging biomarkers that are clinically useful for establishing diagnosis or predicting treatment outcome in mood disorders. PMID:23546169

  5. Anti-N-methyl-d-aspartate receptor encephalitis: review of clinical presentation, diagnosis and treatment

    PubMed Central

    Barry, Helen; Byrne, Susan; Barrett, Elizabeth; Murphy, Kieran C.; Cotter, David R.

    2015-01-01

    Anti-N-methyl-d-aspartate (NMDA) receptor encephalitis is a form of encephalitis occurring primarily in women and associated with antibodies against NR1 or NR2 subunits of the NMDA receptor. As a potentially treatable differential for symptoms and signs seen in neurology and psychiatric clinics, clinicians practising across the lifespan should be aware of this form of encephalitis. Common clinical features include auditory and visual hallucinations, delusions, behavioural change (frequently with agitation), impaired consciousness, motor disturbance (ranging from dyskinesia to catatonia), seizures, and autonomic dysfunction. We present a review of the literature on the disorder, including its clinical presentation, differential diagnosis, epidemiology, treatment and prognosis. PMID:26191419

  6. Anti-N-methyl-d-aspartate receptor encephalitis: review of clinical presentation, diagnosis and treatment.

    PubMed

    Barry, Helen; Byrne, Susan; Barrett, Elizabeth; Murphy, Kieran C; Cotter, David R

    2015-02-01

    Anti-N-methyl-d-aspartate (NMDA) receptor encephalitis is a form of encephalitis occurring primarily in women and associated with antibodies against NR1 or NR2 subunits of the NMDA receptor. As a potentially treatable differential for symptoms and signs seen in neurology and psychiatric clinics, clinicians practising across the lifespan should be aware of this form of encephalitis. Common clinical features include auditory and visual hallucinations, delusions, behavioural change (frequently with agitation), impaired consciousness, motor disturbance (ranging from dyskinesia to catatonia), seizures, and autonomic dysfunction. We present a review of the literature on the disorder, including its clinical presentation, differential diagnosis, epidemiology, treatment and prognosis.

  7. Clinical usefulness of observational assessment in the diagnosis of DBD and ADHD in preschoolers.

    PubMed

    Bunte, Tessa L; Laschen, Sarah; Schoemaker, Kim; Hessen, David J; van der Heijden, Peter G M; Matthys, Walter

    2013-01-01

    The aim of the present study was to investigate the clinical usefulness of an observational tool--the Disruptive Behavior Diagnostic Observation Schedule (DB-DOS)--in the diagnosis of disruptive behavior disorders (DBD) and attention deficit/hyperactivity disorder (ADHD) in preschoolers. We hypothesized that the DB-DOS may help support the presumption of a diagnosis generated by the information from parents and teachers (or other caregivers). Participants were referred preschool children with externalizing behavioral problems (N = 193; 83% male) and typically developing children (N = 58; 71% male). In view of the clinical validity study each child was given a diagnosis of either DBD (N = 40), or ADHD (N = 54) or comorbid (DBD + ADHD; N = 66) based on best-estimate diagnosis. The DB-DOS demonstrated good interrater and test-retest reliability for DBD and ADHD symptom scores. Confirmatory factor analysis demonstrated an excellent fit of the DB-DOS multidomain model of DBD symptom scores and a satisfactory fit of ADHD symptom scores. The DB-DOS demonstrated good convergent validity, moderate divergent validity, and good clinical validity on a diagnostic group level for DBD and ADHD symptom scores. The Receiver Operating Characteristic curve analyses revealed that for DBD the sensitivity and specificity are moderate and for ADHD good to excellent. The presumption of a diagnosis based on information from parents, teachers, and cognitive assessment was supported by the DB-DOS in 60% for DBD and 75% for ADHD. The DB-DOS can be used to help support a presumption of a DBD and/or ADHD diagnosis in preschool children.

  8. Clinical and Histopathological Diagnosis of Glomus Tumor: An Institutional Experience of 138 Cases

    PubMed Central

    Mravic, Marco; LaChaud, Gregory; Nguyen, Alan; Scott, Michelle A.; Dry, Sarah M.; James, Aaron W.

    2015-01-01

    Background Glomus tumors are relatively uncommon subcentimeteric benign perivascular neoplasms usually located on the fingers. With their blue-red color and common subungual location, they are commonly confused for vascular or melanocytic lesions. To date there is no comprehensive review of an institutional experience with glomus tumors. Methods A 14-year retrospective review of all cases within University of California, Los Angeles, with either a clinical or pathological diagnosis of glomus tumor was performed. Data obtained included demographic information, tumor description, pathological diagnoses, immunohistochemical studies, radiographic and treatment information, and clinical course. Rates of concordance between clinical and pathological diagnoses and an evaluation of overlap with other entities were assessed. Results Clinical diagnosis of glomus tumor showed concordance with a histopathological diagnosis (45.4% of cases). The most common alternate clinical diagnoses included lipoma, cyst, or angioma. A pathological diagnosis of glomus tumor was most common in the fourth to seventh decades of life. The most common presentation was a subcentimeter lesion on the digit. Deep-seated tumors had a strikingly increased risk for malignancy (33%). Radiological studies were not relied on frequently (18.2% of cases). Immunohistochemical analysis showed diffuse αSMA and MSA expression in nearly all cases (99% and 95%, respectively), with focal to diffuse CD34 immunostaining in 32% of cases. Discussion Our study illustrates trends in the clinical versus pathologic diagnoses of glomus tumor, common competing diagnoses, a difference in demographics than is commonly reported (older age groups most commonly affected), and important differences in the use adjunctive diagnostic tools including radiology and immunohistochemistry. PMID:25614464

  9. Evaluation of clinical effect of transabdominal sonography and transvaginal sonography in early diagnosis of ectopic gestation

    PubMed Central

    Li, Yinghui; Feng, Tao; Sun, Jiandong

    2017-01-01

    Objective: To analyze the application of transabdominal sonography and transvaginal sonography in early diagnosis of pregnancy and to provide a reference for the selection of diagnosis methods in clinic. Methods: One hundred and eighty patients who were admitted into the hospital from February 2013 to February 2014, received clinical diagnosis and were confirmed as ectopic gestation by surgery were selected as research objects. They were examined by transabdominal sonography, transvaginal sonography, and transabdominal sonography in combination with transvaginal sonography respectively. Besides, the ultrasonic performance was observed and compared with surgical pathological results to analyze and compare diagnostic accordance rate. Results: The positive rate of transabdominal sonography in combination with transvaginal sonography was much higher than that of transabdominal sonography and transvaginal sonography and the differences had statistical significance (P<0.05). The detection rate of different positive characteristics using the combined examination was much higher than that of transabdominal sonography and transvaginal sonography, and the differences had statistical significance (P<0.05). The detection rates of different types of ectopic gestation and different sizes of mass using transabdominal sonography in combination of transvaginal sonography were higher than that of transabdominal sonography and transvaginal sonography (P<0.05). Conclusion: Transabdominal sonography in combination with transvaginal sonography can complement information, improve detection rate, and reduce or avoid misdiagnosis and missed diagnosis, which provides a scientific basis for the formulation of clinical treatment scheme. PMID:28367172

  10. Clinical and videofluoroscopic diagnosis of dysphagia in chronic encephalopathy of childhood*

    PubMed Central

    Araújo, Brenda Carla Lima; Motta, Maria Eugênia Almeida; de Castro, Adriana Guerra; de Araújo, Claudia Marina Tavares

    2014-01-01

    Objective To evaluate the contribution of deglutition videofluoroscopy in the clinical diagnosis of dysphagia in chronic encephalopathy of childhood. Materials and Methods The study sample consisted of 93 children diagnosed with chronic encephalopathy, in the age range between two and five years, selected by convenience among patients referred to the authors' institution by speech therapists, neurologists and gastroenterologists in the period from March 2010 to September 2011. The data collection was made at two different moments, by different investigators who were blind to each other. Results The method presented low sensitivity for detecting aspiration with puree consistency (p = 0.04). Specificity and negative predictive value were high for clinical diagnosis of dysphagia with puree consistency. Conclusion In the present study, the value for sensitivity in the clinical diagnosis of dysphagia demonstrates that this diagnostic procedure may not detect any change in the swallowing process regardless of the food consistency used during the investigation. Thus, the addition of the videofluoroscopic method can significantly contribute to the diagnosis of dysphagia. PMID:25741054

  11. [Congenital insensitivity to pain with anhidrosis. Clinical diagnosis, evolution and complications: case report].

    PubMed

    Albuja Echeverría, Byron Orlando; Alvear Lozano, Mayra Bersabeth; Ordóñez Paredes, Carla Patricia

    2014-10-01

    The congenital insensitivity to pain with anhidrosis is a rare autosomal recessive disease caused by mutations in NTRK1 gene (neurotrophic tyrosine kinase receptor 1) located in chromosome 1q21-22, encoding the tyrosinase domain receptor high affinity nerve growth factor. It is characterized by anhidrosis, insensitivity to painful stimuli and mental retardation. Given their low prevalence and the few reported cases, it is important to know its main features to be considered in the differential diagnosis in pediatric practice. We describe the clinical diagnosis, complications, sequelae and symptomatic treatment administered to a 3 years and 6 months old girl in the Hospital Asdrubal de la Torre, Cotacachi, Ecuador.

  12. How many clinic BP readings are needed to predict cardiovascular events as accurately as ambulatory BP monitoring?

    PubMed

    Eguchi, K; Hoshide, S; Shimada, K; Kario, K

    2014-12-01

    We tested the hypothesis that multiple clinic blood pressure (BP) readings over an extended baseline period would be as predictive as ambulatory BP (ABP) for cardiovascular disease (CVD). Clinic and ABP monitoring were performed in 457 hypertensive patients at baseline. Clinic BP was measured monthly and the means of the first 3, 5 and 10 clinic BP readings were taken as the multiple clinic BP readings. The subjects were followed up, and stroke, HARD CVD, and ALL CVD events were determined as outcomes. In multivariate Cox regression analyses, ambulatory systolic BP (SBP) best predicted three outcomes independently of baseline and multiple clinic SBP readings. The mean of 10 clinic SBP readings predicted stroke (hazards ratio (HR)=1.39, 95% confidence interval (CI)=1.02-1.90, P=0.04) and ALL CVD (HR=1.41, 95% CI=1.13-1.74, P=0.002) independently of baseline clinic SBP. Clinic SBPs by three and five readings were not associated with any CVD events, except that clinic SBP by three readings was associated with ALL CVD (P=0.015). Besides ABP values, the mean of the first 10 clinic SBP values was a significant predictor of stroke and ALL CVD events. It is important to take more than several clinic BP readings early after the baseline period for the risk stratification of future CVD events.

  13. Agreement between clinical and portable EMG/ECG diagnosis of sleep bruxism.

    PubMed

    Castroflorio, T; Bargellini, A; Rossini, G; Cugliari, G; Deregibus, A; Manfredini, D

    2015-10-01

    The aim of this study was to compare clinical sleep bruxism (SB) diagnosis with an instrumental diagnosis obtained with a device providing electromyography/electrocardiography (EMG/ECG) recordings. Forty-five (N = 45) subjects (19 males and 26 females, mean age 28 ± 11 years) were selected among patients referring to the Gnathology Unit of the Dental School of the University of Torino. An expert clinician assessed the presence of SB based on the presence of one or more signs/symptoms (i.e., transient jaw muscle pain in the morning, muscle fatigue at awakening, presence of tooth wear, masseter hypertrophy). Furthermore, all participants underwent an instrumental recording at home with a portable device (Bruxoff; OT Bioelettronica, Torino, Italy) allowing a simultaneous recording of EMG signals from both the masseter muscles as well as heart frequency. Statistical procedures were performed with the software Statistical Package for the Social Science v. 20.0 (SPSS 20.0; IBM, Milan, Italy). Based on the EMG/ECG analysis, 26 subjects (11 males, 15 females, mean age 28 ± 10 years) were diagnosed as sleep bruxers, whilst 19 subjects (7 males, 12 females, mean age 30 ± 10 years) were diagnosed as non-bruxers. The correlation between the clinical and EMG/ECG SB diagnoses was low (ϕ value = 0.250), with a 62.2% agreement (28/45 subjects) between the two approaches (kappa = 0.248). Assuming instrumental EMG/ECG diagnosis as the standard of reference for definite SB diagnosis in this investigation, the false-positive and false-negative rates were unacceptable for all clinical signs/symptoms. In conclusion, findings from clinical assessment are not related with SB diagnosis performed with a portable EMG/ECG recorder.

  14. Serum Is the Preferred Clinical Specimen for Diagnosis of Human Brucellosis by PCR

    PubMed Central

    Zerva, L.; Bourantas, K.; Mitka, S.; Kansouzidou, A.; Legakis, N. J.

    2001-01-01

    Human brucellosis poses a significant public health problem in many developing countries and requires fast and accurate diagnosis. A PCR assay amplifying part of the 31-kDa Brucella abortus antigenic protein gene sequence was developed and applied to whole-blood and serum samples from 31 brucellosis patients and 45 healthy individuals. All patients except one had detectable Brucella DNA in either whole blood or serum (combined sensitivity, 97%), but the assay sensitivity was higher with serum samples (94%) than with whole-blood samples (61%). The assay specificity was excellent (100%). A confirmatory PCR assay targeting another Brucella gene region (omp-2) was also developed but lacked sensitivity. Serum is the optimal specimen for the diagnosis of brucellosis by PCR, a choice that leads to assay simplification and shortens turnaround time. PMID:11283112

  15. Wernicke's encephalopathy: new clinical settings and recent advances in diagnosis and management.

    PubMed

    Sechi, Gianpietro; Serra, Alessandro

    2007-05-01

    Wernicke's encephalopathy is an acute neuropsychiatric syndrome resulting from thiamine deficiency, which is associated with significant morbidity and mortality. According to autopsy-based studies, the disorder is still greatly underdiagnosed in both adults and children. In this review, we provide an update on the factors and clinical settings that predispose to Wernicke's encephalopathy, and discuss the most recent insights into epidemiology, pathophysiology, genetics, diagnosis, and treatment. To facilitate the diagnosis, we classify the common and rare symptoms at presentation and the late-stage symptoms. We emphasise the optimum dose of parenteral thiamine required for prophylaxis and treatment of Wernicke's encephalopathy and prevention of Korsakoff's syndrome associated with alcohol misuse. A systematic approach helps to ensure that patients receive a prompt diagnosis and adequate treatment.

  16. Fixation patterns, not clinical diagnosis, predict body size over‐estimation in eating disordered women and healthy controls

    PubMed Central

    Cornelissen, Katri K.; Cornelissen, Piers L.; Hancock, Peter J. B.

    2016-01-01

    ABSTRACT Objective A core feature of anorexia nervosa (AN) is an over‐estimation of body size. Women with AN have a different pattern of eye‐movements when judging bodies, but it is unclear whether this is specific to their diagnosis or whether it is found in anyone over‐estimating body size. Method To address this question, we compared the eye movement patterns from three participant groups while they carried out a body size estimation task: (i) 20 women with recovering/recovered anorexia (rAN) who had concerns about body shape and weight and who over‐estimated body size, (ii) 20 healthy controls who had normative levels of concern about body shape and who estimated body size accurately (iii) 20 healthy controls who had normative levels of concern about body shape but who did over‐estimate body size. Results Comparisons between the three groups showed that: (i) accurate body size estimators tended to look more in the waist region, and this was independent of clinical diagnosis; (ii) there is a pattern of looking at images of bodies, particularly viewing the upper parts of the torso and face, which is specific to participants with rAN but which is independent of accuracy in body size estimation. Discussion Since the over‐estimating controls did not share the same body image concerns that women with rAN report, their over‐estimation cannot be explained by attitudinal concerns about body shape and weight. These results suggest that a distributed fixation pattern is associated with over‐estimation of body size and should be addressed in treatment programs. © 2016 Wiley Periodicals, Inc. (Int J Eat Disord 2016; 49:507–518). PMID:26996142

  17. Clinical Approach to Diagnosis of Pre-Dementia Alzheimer's Disease (CAD-PAD)

    PubMed Central

    Alom, J.; Llinares, I.; Fajardo, S.

    2012-01-01

    Objective Our aim was to evaluate clinical and neuropsychological features to identify pre-dementia Alzheimer's disease (PAD) among mild cognitive impairment (MCI) patients. Methods A longitudinal prospective study of 89 consecutive patients affected with MCI was conducted. Clinical evaluation consisted of a clinical interview protocol, neuropsychological evaluation, standard laboratory tests, and CT scan. A 6-month clinical check-up was made to determine whether patients remained in MCI, improved or progressed to AD or another dementia. Results At 3-year follow-up, 47% patients developed AD dementia. Seventeen variables were significant and were evaluated by logistic regression analysis to identify the remaining optimal diagnostic criteria: age, gender, repeating comments, difficulties in understanding explanations, time of symptom evolution, history of depression, and word fluency (with animals) were identified with a sensitivity of 100% and a specificity of 93%. A computer application was developed with all these variables which we have named Clinical Approach to Diagnosis of PAD (CAD-PAD). Conclusions These results suggest that CAD-PAD can help in the clinical diagnosis of PAD. PMID:22962557

  18. Ministry of Health Clinical Practice Guidelines: Prevention, Diagnosis and Management of Tuberculosis.

    PubMed

    Wang, Yee Tang Sonny; Chee, Cynthia Bin Eng; Hsu, Li Yang; Jagadesan, Raghuram; Kaw, Gregory Jon Leng; Kong, Po Marn; Lew, Yii Jen; Lim, Choon Seng; Lim, Ting Ting Jayne; Lu, Kuo Fan Mark; Ooi, Peng Lim; Sng, Li-Hwei; Thoon, Koh Cheng

    2016-03-01

    The Ministry of Health (MOH) has developed the clinical practice guidelines on Prevention, Diagnosis and Management of Tuberculosis to provide doctors and patients in Singapore with evidence-based treatment for tuberculosis. This article reproduces the introduction and executive summary (with recommendations from the guidelines) from the MOH clinical practice guidelines on Prevention, Diagnosis and Management of Tuberculosis, for the information of SMJ readers. The chapters and page numbers mentioned in the reproduced extract refer to the full text of the guidelines, which are available from the Ministry of Health website: http://www.moh.gov.sg/content/moh_web/healthprofessionalsportal/doctors/guidelines/cpg_medical.html. The recommendations should be used with reference to the full text of the guidelines. Following this article are multiple choice questions based on the full text of the guidelines.

  19. Ministry of Health Clinical Practice Guidelines: Prevention, Diagnosis and Management of Tuberculosis

    PubMed Central

    Wang, Yee Tang Sonny; Chee, Cynthia Bin Eng; Hsu, Li Yang; Jagadesan, Raghuram; Kaw, Gregory Jon Leng; Kong, Po Marn; Lew, Yii Jen; Lim, Choon Seng; Lim, Ting Ting Jayne; Lu, Kuo Fan Mark; Ooi, Peng Lim; Sng, Li-Hwei; Thoon, Koh Cheng

    2016-01-01

    The Ministry of Health (MOH) has developed the clinical practice guidelines on Prevention, Diagnosis and Management of Tuberculosis to provide doctors and patients in Singapore with evidence-based treatment for tuberculosis. This article reproduces the introduction and executive summary (with recommendations from the guidelines) from the MOH clinical practice guidelines on Prevention, Diagnosis and Management of Tuberculosis, for the information of SMJ readers. The chapters and page numbers mentioned in the reproduced extract refer to the full text of the guidelines, which are available from the Ministry of Health website: http://www.moh.gov.sg/content/moh_web/healthprofessionalsportal/doctors/guidelines/cpg_medical.html. The recommendations should be used with reference to the full text of the guidelines. Following this article are multiple choice questions based on the full text of the guidelines. PMID:26996216

  20. Mycoses of implantation in Latin America: an overview of epidemiology, clinical manifestations, diagnosis and treatment.

    PubMed

    Queiroz-Telles, Flavio; Nucci, Marcio; Colombo, Arnaldo Lopes; Tobón, Angela; Restrepo, Angela

    2011-04-01

    Implantation or subcutaneous mycoses are a frequent health problem in Latin American countries and other tropical and subtropical areas. Although such infections rarely cause disseminated or invasive disease, they have an important impact on public health, and timely diagnosis and appropriate treatment remain important. Although some implantation mycoses are found in immunocompromised persons, the immunocompetent population is the principal target in Latin America. Most etiologic agents are found in soil, vegetation, and decaying matter in tropical, subtropical, and humid environments and infection is commonly the result of penetrating injury. Infections primarily occur (1) among low socioeconomic groups, (2) among those living in rural areas or involved in farming, hunting, or other outdoor activities, and (3) particularly among adult men. This review focuses on the epidemiology of the most clinically significant implantation mycoses in Latin America, i.e., sporotrichosis, eumycetoma, chromoblastomycosis, subcutaneous phaeohyphomycosis, subcutaneous zygomycosis, and lacaziosis. Main epidemiologic findings, clinical manifestations, diagnosis, and treatment options are also discussed.

  1. Diagnosis of streptococcal pharyngotonsillitis in children and adolescents: clinical picture limitations☆

    PubMed Central

    Barbosa, Aurelino Rocha; Oliveira, Cláudia Di Lorenzo; Fontes, Maria Jussara Fernandes; Lasmar, Laura Maria de Lima Bezário Facury; Camargos, Paulo Augusto Moreira

    2014-01-01

    OBJECTIVE: To assess the utility of clinical features for diagnosis of streptococcal pharyngotonsillitis in pediatrics. METHODS: A total of 335 children aged 1-18 years old and presenting clinical manifestations of acute pharyngotonsillitis (APT) were subjected to clinical interviews, physical examinations, and throat swab specimen collection to perform cultures and latex particle agglutination tests (LPATs) for group A streptococcus (GAS) detection. Signs and symptoms of patients were compared to their throat cultures and LPATs results. A clinical score was designed based on the multivariate logistic regression analysis and also was compared to throat cultures and LPATs results. Positive throat cultures and/or LPATs results were used as a reference standard to establish definitive streptococcal APT diagnosis. RESULTS: 78 children (23.4%) showed positivity for GAS in at least one of the two diagnostic tests. Coryza absence (odds ratio [OR]=1.80; p=0.040), conjunctivitis absence (OR=2.47; p=0.029), pharyngeal erythema (OR=3.99; p=0.006), pharyngeal exudate (OR=2.02; p=0.011), and tonsillar swelling (OR=2.60; p=0.007) were significantly associated with streptococcal pharyngotonsilitis. The highest clinical score, characterized by coryza absense, pharyngeal exudate, and pharyngeal erythema had a 45.6% sensitivity, a 74.5% especificity, and a likelihood ratio of 1.79 for streptococcal pharyngotonsilitis. CONCLUSIONS: Clinical presentation should not be used to confirm streptococcal pharyngotonsilitis, because its performance as a diagnostic test is low. Thus, it is necessary to enhance laboratory test availability, especially of LPATs that allow an acurate and fast diagnosis of streptococcal pharyngotonsilitis. PMID:25510990

  2. Basal Cell Carcinoma: Pathogenesis, Epidemiology, Clinical Features, Diagnosis, Histopathology, and Management

    PubMed Central

    Marzuka, Alexander G.; Book, Samuel E.

    2015-01-01

    Basal cell carcinoma (BCC) is the most common malignancy. Exposure to sunlight is the most important risk factor. Most, if not all, cases of BCC demonstrate overactive Hedgehog signaling. A variety of treatment modalities exist and are selected based on recurrence risk, importance of tissue preservation, patient preference, and extent of disease. The pathogenesis, epidemiology, clinical features, diagnosis, histopathology, and management of BCC will be discussed in this review. PMID:26029015

  3. Serologically proven acute rubella infection in patients with clinical diagnosis of dengue.

    PubMed Central

    Bustos, J.; Hamdan, A.; Loroño, M. A.; Montero, M. T.; Gómez, B.

    1990-01-01

    Patients with a clinical diagnosis of dengue but negative by serological testing were studied for rubella infection. Paired sera were obtained from 69 patients during an outbreak in Yucatán, México. The presence of specific anti-viral IgM in the acute sera was considered as diagnostic for rubella infection. The immunoglobulin was determined by measuring the difference in the inhibition of hemagglutination between the non-reduced and the reduced fractionated sera. Immunoglobulins were separated by sucrose density centrifugation. Acute rubella infection was found in 7 (10.1%) of the patients. These results demonstrate active rubella infection in patients clinically diagnosed as dengue. PMID:2323361

  4. Diagnosis and clinical management of gastrointestinal conditions in exotic companion mammals (rabbits, guinea pigs, and chinchillas).

    PubMed

    Ritzman, Tracey K

    2014-05-01

    Gastrointestinal disorders are common in exotic mammals such as rabbits, guinea pigs and chinchillas. Presenting clinical signs of gastrointestinal disease can vary widely. Small herbivores require specific dietary support and therapeutic treatments. Ileus is a common clinical condition and can be a primary or secondary disease. Common forms of treatment for ileus include fluid therapy, pain relief, nutritional support, and prokinetic therapy. The prognosis of the exotic mammal patient with gastrointestinal disease depends on the timing of the diagnosis and initiation of treatment. Surgical conditions such as gastrointestinal obstruction can have a good outcome if diagnosed early.

  5. [Osteoma and exostosis of the external auditory meatus: a clinical diagnosis].

    PubMed

    Granell, J; Puig, A; Benito, E

    2003-03-01

    Proliferative osseous lesions usually found in the external ear are exostoses and osteomata. In other sites they are clearly different entities, but in this location histopathologic differential features are not so reliable in the study of the specimens. An occlusive osteomata is shown, with the typical clinical presentation demonstrated in a multiplanar CT. Microscopically, the lesion consisted of mature bone trabeculae, separated by medular spaces with fibrovascular tissue, characteristic features of osteomata. However, in the most superficial areas, lines of bone apposition, like those in exostoses, were found. A literature review confirms the lack of specificity of the histopathologic study, so diagnosis is based on clinical data.

  6. Infantile nystagmus syndrome: clinical characteristics, current theories of pathogenesis, diagnosis, and management.

    PubMed

    Richards, Michael D; Wong, Agnes

    2015-12-01

    Infantile nystagmus syndrome (INS) is an important clinical diagnosis because it is a common presenting sign of many ocular, neurologic, and systemic diseases. Although INS has been studied for more than a century, its diagnosis and treatment remains a challenge to clinicians because of its varied manifestations and multiple associations, and its pathogenesis continues to rouse considerable scientific debate. Fueled by these challenges, recent basic research and clinical investigations have provided new insights into INS. New genetic discoveries and technological advances in ocular imaging have refined our understanding of INS subtypes and offer new diagnostic possibilities. Unexpected surgical outcomes have led to new understanding of its pathogenesis based on novel hypothesized pathways of ocular motor control. Comparative studies on nonhuman visual systems have also informed models of the neural substrate of INS in humans. This review brings together the classic profile of this disorder with recent research to provide an update on the clinical features of INS, an overview of the current theories on how and why INS develops, and a practical approach to the diagnosis and management of INS.

  7. The Clinical Diagnosis and Management of Kawasaki Disease: a Review and Update.

    PubMed

    Zhu, Frank H; Ang, Jocelyn Y

    2016-09-01

    Kawasaki disease is an acute, self-limited vasculitis of childhood and has become the leading cause of acquired pediatric heart disease in the USA. Prompt treatment is essential in reducing cardiac-related morbidity and mortality. The underlying etiology remains unknown. The disease itself may be the characteristic manifestation of a common pathway of immune-mediated vascular inflammation in susceptible hosts. The characteristic clinical features of fever for at least 5 days with bilateral nonpurulent conjunctivitis, rash, changes in lips and oral cavity, changes in peripheral extremities, and cervical lymphadenopathy remain the mainstay of diagnosis. Supplementary laboratory criteria can aid in the diagnosis, particularly in cases of incomplete clinical presentation. Diagnosis of Kawasaki disease can be challenging as the clinical presentation can be mistaken for a variety of other pediatric illnesses. Standard of care consists of intravenous immune globulin and aspirin. Corticosteroids, infliximab, and cyclosporine A have been used as adjunct therapy for Kawasaki disease refractory to initial treatment. There is ongoing research into the use of these agents in the initial therapy of Kawasaki disease.

  8. Diabetes and cardiac autonomic neuropathy: Clinical manifestations, cardiovascular consequences, diagnosis and treatment

    PubMed Central

    Balcıoğlu, Akif Serhat; Müderrisoğlu, Haldun

    2015-01-01

    Cardiac autonomic neuropathy (CAN) is a frequent chronic complication of diabetes mellitus with potentially life-threatening outcomes. CAN is caused by the impairment of the autonomic nerve fibers regulating heart rate, cardiac output, myocardial contractility, cardiac electrophysiology and blood vessel constriction and dilatation. It causes a wide range of cardiac disorders, including resting tachycardia, arrhythmias, intraoperative cardiovascular instability, asymptomatic myocardial ischemia and infarction and increased rate of mortality after myocardial infarction. Etiological factors associated with autonomic neuropathy include insufficient glycemic control, a longer period since the onset of diabetes, increased age, female sex and greater body mass index. The most commonly used methods for the diagnosis of CAN are based upon the assessment of heart rate variability (the physiological variation in the time interval between heartbeats), as it is one of the first findings in both clinically asymptomatic and symptomatic patients. Clinical symptoms associated with CAN generally occur late in the disease process and include early fatigue and exhaustion during exercise, orthostatic hypotension, dizziness, presyncope and syncope. Treatment is based on early diagnosis, life style changes, optimization of glycemic control and management of cardiovascular risk factors. Medical therapies, including aldose reductase inhibitors, angiotensin-converting enzyme inhibitors, prostoglandin analogs and alpha-lipoic acid, have been found to be effective in randomized controlled trials. The following article includes the epidemiology, clinical findings and cardiovascular consequences, diagnosis, and approaches to prevention and treatment of CAN. PMID:25685280

  9. Genetic Testing as a New Standard for Clinical Diagnosis of Color Vision Deficiencies

    PubMed Central

    Davidoff, Candice; Neitz, Maureen; Neitz, Jay

    2016-01-01

    Purpose The genetics underlying inherited color vision deficiencies is well understood: causative mutations change the copy number or sequence of the long (L), middle (M), or short (S) wavelength sensitive cone opsin genes. This study evaluated the potential of opsin gene analyses for use in clinical diagnosis of color vision defects. Methods We tested 1872 human subjects using direct sequencing of opsin genes and a novel genetic assay that characterizes single nucleotide polymorphisms (SNPs) using the MassArray system. Of the subjects, 1074 also were given standard psychophysical color vision tests for a direct comparison with current clinical methods. Results Protan and deutan deficiencies were classified correctly in all subjects identified by MassArray as having red–green defects. Estimates of defect severity based on SNPs that control photopigment spectral tuning correlated with estimates derived from Nagel anomaloscopy. Conclusions The MassArray assay provides genetic information that can be useful in the diagnosis of inherited color vision deficiency including presence versus absence, type, and severity, and it provides information to patients about the underlying pathobiology of their disease. Translational Relevance The MassArray assay provides a method that directly analyzes the molecular substrates of color vision that could be used in combination with, or as an alternative to current clinical diagnosis of color defects. PMID:27622081

  10. Clinical, radiological and molecular diagnosis correlation in serum samples from patients with osteoarticular tuberculosis

    PubMed Central

    García-Elorriaga, Guadalupe; Martínez-Elizondo, Olga; del Rey-Pineda, Guillermo; González-Bonilla, César

    2014-01-01

    Objective To assess the role of polymerase chain reaction (PCR) in serum samples, in the diagnosis of osteoarticular tuberculosis (OTB) in a setting where only clinical and imaging diagnoses determine the treatment. Methods A total of 44 consecutive serum specimens were collected from clinically suspected OTB patients, based on clinical and radiological [X-ray or magnetic resonance imaging/computed tomography] features. They were screened by in-house nested PCR. In addition, a few specimens were examined by Gram stain, acid-fast bacilli stain, histopathology and routine bacterial culture. A total of 39 specimens were collected from patients suffering from other bone diseases of nontuberculous origin and included as negative controls. Results Of the 44 clinically suspected OTB patients, in-house nested PCR was positive in 40 (91%) cases; PCR was negative in 38 (97%) negative controls. Sensitivity and specificity of our in-house nested PCR was 90.9% and 97.4%, respectively. The PCR report was available within 48 h. It was possible to standardize serum PCR technique and in positive cases, a good correlation was observed in terms of an adequate treatment response. Conclusions Nested PCR in serum samples is a rapid, highly sensitive and specific modality for OTB detection. PCR should be performed in addition to clinical evaluation, imaging studies, acid-fast bacilli staining, culture and histopathology diagnosis, if possible. PMID:25183281

  11. Clinical validation of immunoglobulin A nephropathy diagnosis in Swedish biopsy registers

    PubMed Central

    Jarrick, Simon; Lundberg, Sigrid; Welander, Adina; Fored, C Michael; Ludvigsson, Jonas F

    2017-01-01

    Aims The aims of this study were to validate the diagnosis of IgA nephropathy (IgAN) in Swedish biopsy registers against patient charts and to describe the clinical characteristics of patients with a biopsy indicating IgAN. Methods This is a population-based cohort study. Out of 4,069 individuals with a renal biopsy consistent with IgAN (biopsies performed in 1974–2011), this study reviewed patient charts of a random subset of 127 individuals. Clinical and biopsy characteristics at the time of biopsy were evaluated, and positive predictive values (PPV) were calculated with 95% confidence intervals (CI). Results Out of 127 individuals with a renal biopsy consistent with IgAN, 121 had a likely or confirmed clinical diagnosis of IgAN, primary or secondary to Henoch–Schönlein purpura, yielding a PPV of 95% (95% CI =92%–99%). The median age at biopsy was 39 years (range: 4–79 years); seven patients (6%) were <16 years. The male to female ratio was 2.8:1. The most common causes for consultation were macroscopic hematuria (n=37; 29%), screening (n=33; 26%), and purpura (n=14, 11%). In patients with available data, the median creatinine level was 104 μmol/L (range 26–986 μmol/L, n=110) and glomerular filtration rate 75 mL/min/1.73m2 (range 5–173 mL/min/1.73m2, n=114). Hypertension was noted in 59 (46%) individuals. IgA deposits were reported in 97% of the biopsy records (n=123), mesangial hypercellularity in 76% (n=96), C3 deposits in 89% (n=113), and C1q deposits in 12% (n=15). Conclusion A histologic diagnosis of IgAN has a high PPV for a diagnosis of IgAN confirmed by review of patient charts. PMID:28203107

  12. Automatic lumbar vertebra segmentation from clinical CT for wedge compression fracture diagnosis

    NASA Astrophysics Data System (ADS)

    Ghosh, Subarna; Alomari, Raja'S.; Chaudhary, Vipin; Dhillon, Gurmeet

    2011-03-01

    Lumbar vertebral fractures vary greatly in types and causes and usually result from severe trauma or pathological conditions such as osteoporosis. Lumbar wedge compression fractures are amongst the most common ones where the vertebra is severely compressed forming a wedge shape and causing pain and pressure on the nerve roots and the spine. Since vertebral segmentation is the first step in any automated diagnosis task, we present a fully automated method for robustly localizing and segmenting the vertebrae for preparation of vertebral fracture diagnosis. Our segmentation method consists of five main steps towards the CAD(Computer-Aided Diagnosis) system: 1) Localization of the intervertebral discs. 2) Localization of the vertebral skeleton. 3) Segmentation of the individual vertebra. 4) Detection of the vertebrae center line and 5) Detection of the vertebrae major boundary points. Our segmentation results are promising with an average error of 1.5mm (modified Hausdorff distance metric) on 50 clinical CT cases i.e. a total of 250 lumbar vertebrae. We also present promising preliminary results for automatic wedge compression fracture diagnosis on 15 cases, 7 of which have one or more vertebral compression fracture, and obtain an accuracy of 97.33%.

  13. Experiences of women with a diagnosis of breast cancer: a clinical pathway approach.

    PubMed

    Lindop, E; Cannon, S

    2001-06-01

    The study presented in this paper formed the first part of a large survey of breast cancer patients in one health authority in England, UK looking at individual needs expressed by women with a diagnosis of breast cancer. The paper provides an account of the experiences of 12 women with a diagnosis of breast cancer. The women represent a wide age range and different stages of illness. The transcribed accounts of the women were analysed by means of Qualitative Solutions and Research, Non-Numerical Unstructured Data Indexing Searching and Theorising (QSR*NUDIST). The study examined the individual experiences of women with a diagnosis of breast cancer and its aftermath as they passed through different stages related to it. The women's experiences are presented within the conceptual framework of the clinical pathway and their accounts represent their journey along the pathway. Various significant points in this journey are portrayed representing the women's reactions to diagnosis, treatment, femininity and body image, support, family and friends, information and after care.

  14. The Diagnosis of Choriocarcinoma in Molar Pregnancies: A Revised Approach in Clinical Testing

    PubMed Central

    Duffy, Lisa; Zhang, Liangtao; Sheath, Karen; Love, Donald R.; George, Alice M.

    2015-01-01

    Background Hydatidiform moles occur in approximately 1 in 1,500 pregnancies; however, early miscarriages or spontaneous abortions may not be correctly identified as molar pregnancies due to poor differentiation of chorionic villi. Methods The current clinical testing algorithm used for the detection of hydatidiform moles uses a combination of morphological analysis and p57 immunostaining followed by ploidy testing to establish a diagnosis of either a complete or partial molar pregnancy. We review here 198 referrals for fluorescence in situ hybridization (FISH) ploidy testing, where the initial diagnosis based on morphology is compared to the final diagnosis based on a combination of morphology, FISH and p57 immunohistochemical (IHC) staining. Results Approximately 40% of cases were determined to be genetically abnormal, but only 28.8% of cases were diagnosed as molar pregnancies. The underestimation of complete molar pregnancies and those with androgenetic inheritance was also found to be likely using conventional diagnostic methods, as atypical p57 staining was observed in approximately 10% of cases. Conclusions Our findings suggest that a revised approach to testing products of conception is necessary, with cases screened according to their clinical history in order to distinguish molar pregnancy referrals from hydropic pregnancies. PMID:26566410

  15. Diagnosis of Clostridium difficile Infection: an Ongoing Conundrum for Clinicians and for Clinical Laboratories

    PubMed Central

    Carroll, Karen C.

    2013-01-01

    SUMMARY Clostridium difficile is a formidable nosocomial and community-acquired pathogen, causing clinical presentations ranging from asymptomatic colonization to self-limiting diarrhea to toxic megacolon and fulminant colitis. Since the early 2000s, the incidence of C. difficile disease has increased dramatically, and this is thought to be due to the emergence of new strain types. For many years, the mainstay of C. difficile disease diagnosis was enzyme immunoassays for detection of the C. difficile toxin(s), although it is now generally accepted that these assays lack sensitivity. A number of molecular assays are commercially available for the detection of C. difficile. This review covers the history and biology of C. difficile and provides an in-depth discussion of the laboratory methods used for the diagnosis of C. difficile infection (CDI). In addition, strain typing methods for C. difficile and the evolving epidemiology of colonization and infection with this organism are discussed. Finally, considerations for diagnosing C. difficile disease in special patient populations, such as children, oncology patients, transplant patients, and patients with inflammatory bowel disease, are described. As detection of C. difficile in clinical specimens does not always equate with disease, the diagnosis of C. difficile infection continues to be a challenge for both laboratories and clinicians. PMID:23824374

  16. Analysis of clinical value of CT in the diagnosis of pediatric pneumonia and mycoplasma pneumonia.

    PubMed

    Gong, Liang; Zhang, Chong-Lin; Zhen, Qing

    2016-04-01

    Pneumonia is an infectious disease of the lung causing mortality. Mycoplasma pneumonia (MP) is an atypical bacterial pneumonia that damages several organs. Lung computed tomography (CT) has been utilized in its identification. The aim of the present study was to examine the value of computed tomography diagnosis for pediatric MP. The present study prospectively analyzed the clinical and imaging data of 1,280 cases of pediatric MP in the out- and inpatient departments from March, 2010 to March, 2014; analyzed the morphology and distribution of the pneumonic lesion in the lungs; and summarized the value of CT diagnosis for pediatric MP. In the included children, there were 688 cases of lesions in the unilateral lobe, 592 cases of lesions in the bilateral lobes, 1,101 cases of extensive patchy opacity, 496 cases of mottled opacity, 432 cases of increased lung marking, 256 cases of streak opacity, 192 cases of ground-glass opacity, 992 cases of thickened bronchial wall in the lesions, 128 cases of lymphadenopathy in the hilar lymph nodes and mediastinal lymph nodes, and the lung CT showed 32 cases of pulmonary cavity and 144 cases of pleural effusion. In conclusion, the CT signals of pediatric MP had several types with some children exhibiting complicated changes. The child's clinical manifestation and symptoms should thus be considered in the diagnosis to improve the diagnostic rate.

  17. Patellar Tendinopathy: Clinical Diagnosis, Load Management, and Advice for Challenging Case Presentations.

    PubMed

    Malliaras, Peter; Cook, Jill; Purdam, Craig; Rio, Ebonie

    2015-11-01

    Synopsis The hallmark features of patellar tendinopathy are (1) pain localized to the inferior pole of the patella and (2) load-related pain that increases with the demand on the knee extensors, notably in activities that store and release energy in the patellar tendon. While imaging may assist in differential diagnosis, the diagnosis of patellar tendinopathy remains clinical, as asymptomatic tendon pathology may exist in people who have pain from other anterior knee sources. A thorough examination is required to diagnose patellar tendinopathy and contributing factors. Management of patellar tendinopathy should focus on progressively developing load tolerance of the tendon, the musculoskeletal unit, and the kinetic chain, as well as addressing key biomechanical and other risk factors. Rehabilitation can be slow and sometimes frustrating. This review aims to assist clinicians with key concepts related to examination, diagnosis, and management of patellar tendinopathy. Difficult clinical presentations (eg, highly irritable tendon, systemic comorbidities) as well as common pitfalls, such as unrealistic rehabilitation time frames and overreliance on passive treatments, are also discussed. J Orthop Sports Phys Ther 2015;45(11):887-898. Epub 21 Sep 2015. doi:10.2519/jospt.2015.5987.

  18. Doing diagnosis: whether and how clinicians use a diagnostic tool of uncertain clinical utility.

    PubMed

    Armstrong, Natalie; Hilton, Paul

    2014-11-01

    Diagnosis is fundamental to the practice of medicine and mastery of it is central to the process of both becoming and practicing as a doctor. We focus on diagnosis as a process, in particular from the perspective of clinicians performing it. We explore how UK clinicians exercise discretion about whether and how to use a diagnostic tool (invasive urodynamic tests - IUT) for which there is, currently, no clear, high-quality evidence. Interviews were conducted with a purposive sample of 18 clinicians who had previously completed a survey on their use of IUT. Analysis was based on the constant comparative method. Participants tended to be polarised in their view of IUT. While many regarded it as a valuable diagnostic tool that they used frequently and thought was important, others reported using it only infrequently, and some were sceptical of its value in the diagnostic process even if they commonly used it. In addition to the anticipated clinical functions (e.g. adding to understanding of the condition, helping determine best treatment) there were additional, more social, functions that IUT could serve, including fitting in with local practice and helping to defend against possible future litigation. We discern two distinct approaches to the practice of diagnosis: one approach means 'leaving no stone unturned' and seeking all available evidence, proven or otherwise; while a second means using clinical judgement to say 'enough is enough' and thereby avoid exposing patients to possibly unnecessary tests and potentially wasting scarce healthcare resources.

  19. Prognostic breast cancer signature identified from 3D culture model accurately predicts clinical outcome across independent datasets

    SciTech Connect

    Martin, Katherine J.; Patrick, Denis R.; Bissell, Mina J.; Fournier, Marcia V.

    2008-10-20

    One of the major tenets in breast cancer research is that early detection is vital for patient survival by increasing treatment options. To that end, we have previously used a novel unsupervised approach to identify a set of genes whose expression predicts prognosis of breast cancer patients. The predictive genes were selected in a well-defined three dimensional (3D) cell culture model of non-malignant human mammary epithelial cell morphogenesis as down-regulated during breast epithelial cell acinar formation and cell cycle arrest. Here we examine the ability of this gene signature (3D-signature) to predict prognosis in three independent breast cancer microarray datasets having 295, 286, and 118 samples, respectively. Our results show that the 3D-signature accurately predicts prognosis in three unrelated patient datasets. At 10 years, the probability of positive outcome was 52, 51, and 47 percent in the group with a poor-prognosis signature and 91, 75, and 71 percent in the group with a good-prognosis signature for the three datasets, respectively (Kaplan-Meier survival analysis, p<0.05). Hazard ratios for poor outcome were 5.5 (95% CI 3.0 to 12.2, p<0.0001), 2.4 (95% CI 1.6 to 3.6, p<0.0001) and 1.9 (95% CI 1.1 to 3.2, p = 0.016) and remained significant for the two larger datasets when corrected for estrogen receptor (ER) status. Hence the 3D-signature accurately predicts breast cancer outcome in both ER-positive and ER-negative tumors, though individual genes differed in their prognostic ability in the two subtypes. Genes that were prognostic in ER+ patients are AURKA, CEP55, RRM2, EPHA2, FGFBP1, and VRK1, while genes prognostic in ER patients include ACTB, FOXM1 and SERPINE2 (Kaplan-Meier p<0.05). Multivariable Cox regression analysis in the largest dataset showed that the 3D-signature was a strong independent factor in predicting breast cancer outcome. The 3D-signature accurately predicts breast cancer outcome across multiple datasets and holds prognostic

  20. Role of antibodies in diagnosis and treatment of ovarian cancer: Basic approach and clinical status.

    PubMed

    Bhatt, Priyanka; Vhora, Imran; Patil, Sushilkumar; Amrutiya, Jitendra; Bhattacharya, Chandrali; Misra, Ambikanandan; Mashru, Rajashree

    2016-03-28

    Ovarian cancer is the second most leading gynecological cancer after endometrial cancer in women. Chemotherapy and cyto-reductive surgery are currently the mainstays for treatment of ovarian cancer in early stages. However, the overall 5years of survival rate in advanced stage is just 20-30%. The main reasons behind therapeutic failures and a low survival rate are challenges in early diagnosis, frequent recurrence, chemo-resistance development and lack of targeting. Antibodies have evolved as a rationale therapeutic approach to overcome these hurdles and to engender significant clinical applications. Detection of cancer associated antibodies and radiolabeled antibody conjugates are forming the basis for early diagnosis of ovarian cancer. Besides this, antibodies when given alone act as an anti-angiogenic agent or utilize the protective role of immune system against ovarian cancer. This high specificity and selectivity of action is also accompanied by development of tumor antigen-specific memory T cells, which can prevent cancer recurrence. In addition, when given in combination with chemotherapy, antibodies have turned out to sensitize chemo-resistant tumors. Antibodies are also playing cardinal role in design of highly potent class of targeted therapies, such as antibody-drug conjugates and clinically viable tumor targeted drug nanocarriers. This article aims to explore the fundamentals in development of antibody based therapeutics and multitude ways of clinical applications in diagnosis and treatment of ovarian cancer. Focus is given on the recent advances made in preclinical and clinical settings with an overview to unmet challenges so as to develop better immunotherapeutics in future.

  1. Cardiovascular autonomic neuropathy in diabetes: clinical impact, assessment, diagnosis, and management.

    PubMed

    Spallone, Vincenza; Ziegler, Dan; Freeman, Roy; Bernardi, Luciano; Frontoni, Simona; Pop-Busui, Rodica; Stevens, Martin; Kempler, Peter; Hilsted, Jannik; Tesfaye, Solomon; Low, Phillip; Valensi, Paul

    2011-10-01

    The Cardiovascular Autonomic Neuropathy (CAN) Subcommittee of the Toronto Consensus Panel on Diabetic Neuropathy worked to update CAN guidelines, with regard to epidemiology, clinical impact, diagnosis, usefulness of CAN testing, and management. CAN is the impairment of cardiovascular autonomic control in the setting of diabetes after exclusion of other causes. The prevalence of confirmed CAN is around 20%, and increases up to 65% with age and diabetes duration. Established risk factors for CAN are glycaemic control in type 1 and a combination of hypertension, dyslipidaemia, obesity, and glycaemic control in type 2 diabetes. CAN is a risk marker of mortality and cardiovascular morbidity, and possibly a progression promoter of diabetic nephropathy. Criteria for CAN diagnosis and staging are: (1) one abnormal cardiovagal test result identifies possible or early CAN; (2) at least two abnormal cardiovagal test results are required for definite or confirmed CAN; and (3) the presence of orthostatic hypotension in addition to abnormal heart rate test results identifies severe or advanced CAN. Progressive stages of CAN are associated with increasingly worse prognosis. CAN assessment is relevant in clinical practice for (1) diagnosis of CAN clinical forms, (2) detection and tailored treatment of CAN clinical correlates (e.g. tachycardia, orthostatic hypotension, non-dipping, QT interval prolongation), (3) risk stratification for diabetic complications and cardiovascular morbidity and mortality, and (4) modulation of targets of diabetes therapy. Evidence on the cost-effectiveness of CAN testing is lacking. Apart from the preventive role of intensive glycaemic control in type 1 diabetes, recommendations cannot be made for most therapeutic approaches to CAN.

  2. Women's age and embryo developmental speed accurately predict clinical pregnancy after single vitrified-warmed blastocyst transfer.

    PubMed

    Kato, Keiichi; Ueno, Satoshi; Yabuuchi, Akiko; Uchiyama, Kazuo; Okuno, Takashi; Kobayashi, Tamotsu; Segawa, Tomoya; Teramoto, Shokichi

    2014-10-01

    The aim of this study was to establish a simple, objective blastocyst grading system using women's age and embryo developmental speed to predict clinical pregnancy after single vitrified-warmed blastocyst transfer. A 6-year retrospective cohort study was conducted in a private infertility centre. A total of 7341 single vitrified-armed blastocyst transfer cycles were included, divided into those carried out between 2006 and 2011 (6046 cycles) and 2012 (1295 cycles). Clinical pregnancy rate, ongoing pregnancy rate and delivery rates were stratified by women's age (<35, 35-37, 38-39, 40-41, 42-45 years) and time to blastocyst expansion (<120, 120-129, 130-139, 140-149, >149 h) as embryo developmental speed. In all the age groups, clinical pregnancy rate, ongoing pregnancy rate and delivery rates decreased as the embryo developmental speed decreased (P < 0.0001). A simple five-grade score based on women's age and embryo developmental speed was determined by actual clinical pregnancy rates observed in the 2006-2011 cohort. Subsequently, the novel grading score was validated in the 2012 cohort (1295 cycles), finding an excellent association. In conclusion, we established a novel blastocyst grading system using women's age and embryo developmental speed as objective parameters.

  3. Trichotillomania: a case report with clinical and dermatoscopic differential diagnosis with alopecia areata*

    PubMed Central

    Pinto, Ana Cecília Versiani Duarte; de Andrade, Tatiana Cristina Pedro Cordeiro; de Brito, Fernanda Freitas; da Silva, Gardênia Viana; Cavalcante, Maria Lopes Lamenha Lins; Martelli, Antonio Carlos Ceribelli

    2017-01-01

    Trichotillomania is a psychodermatologic disorder characterized by uncontrollable urge to pull one's own hair. Differential diagnoses include the most common forms of alopecia such as alopecia areata. It is usually associated with depression and obsessive-compulsive disorder. Trichotillomania treatment standardization is a gap in the medical literature. Recent studies demonstrated the efficacy of N-acetylcysteine (a glutamate modulator) for the treatment of the disease. We report the clinical case of a 12-year-old female patient who received the initial diagnosis of alopecia areata, but presented with clinical and dermoscopic features of trichotillomania. She was treated with the combination of psychotropic drugs and N-acetylcysteine with good clinical response. Due to the chronic and recurring nature of trichotillomania, more studies need to be conducted for the establishment of a formal treatment algorithm. PMID:28225970

  4. Fetal Aortic Arch Anomalies: Key Sonographic Views for Their Differential Diagnosis and Clinical Implications Using the Cardiovascular System Sonographic Evaluation Protocol.

    PubMed

    Bravo, Coral; Gámez, Francisco; Pérez, Ricardo; Álvarez, Teresa; De León-Luis, Juan

    2016-02-01

    Aortic arch anomalies are present in 1% to 2% of the general population and are commonly associated with congenital heart disease, chromosomal defects, and tracheaesophageal compression in postnatal life. The sonographically based detection of aortic arch anomalies lies in the 3-vessel and trachea view. Although highly sensitive, this view alone does not allow identification of the aortic arch branching pattern, which prevents an accurate diagnosis. The systematic addition of a subclavian artery view as part of a standardized procedure may be useful in the differential diagnosis of these conditions. We describe the sonographic assessment of fetal aortic arch anomalies by combining 2 fetal transverse views: the 3-vessel and trachea view and the subclavian artery view, which are included in the cardiovascular system sonographic evaluation protocol. We also review the sonographic findings and the clinical implications of fetal aortic arch anomalies.

  5. Clinical presentations and diagnostic work-up in sarcoidosis: a series of Turkish cases (clinics and diagnosis of sarcoidosis).

    PubMed

    Kıter, Göksel; Müsellim, Benan; Cetinkaya, Erdoğan; Türker, Hatice; Kunt Uzaslan, A Esra; Yentürk, Esin; Uzun, Oğuz; Sağlam, Leyla; Özdemir Kumbasar, Özlem; Celik, Gökhan; Okumuş, Gülfer; Arbak, Peri Meram; Altıay, Gündeniz; Tabak, Levent; Sakar Coşkun, Ayşın; Erturan, Serdar; Türktaş, Haluk; Yalnız, Enver; Akkoçlu, Atilla; Öğüş, Candan; Doğan, Ömer Tamer; Özkan, Metin; Özkan, Serir; Uzel, Fatma Işıl; Öngen, Gül

    2011-01-01

    Sarcoidosis is an idiopathic granulomatous disease. It usually affects the lung. The diagnosis may be problematic since the known causes of granulomatous inflammation must be excluded. This multicenter study aimed to evaluate the clinical presentations and diagnostic approaches of sarcoidosis. The study protocol was sent via internet, and the participants were asked to send the information (clinical, radiological and diagnostic) on newly diagnosed sarcoidosis cases. 293 patients were enrolled within two years. Pulmonary symptoms were found in 73.3% of the patients, and cough was the most common one (53.2%), followed by dyspnea (40.3%). Constitutional symptoms were occured in half of the patients. The most common one was fatigue (38.6%). The most common physical sign was eritema nodosum (17.1%). The most common chest radiograhical sign was bilateral hilar lymphadenomegaly (78.8%). Staging according to chest X-ray has revealed that most of the patients were in Stage I and Stage II (51.9% and 31.7%, respectively). Sarcoidosis was confirmed histopathologically in 265 (90.4%) patients. Although one-third of the bronchoscopy was revealed normal, mucosal hyperemi (19.8%) and external compression of the bronchial wall (16.8%) were common abnormal findings. The 100% success rate was obtained in mediastinoscopy among the frequently used sampling methods. Transbronchial biopsy was the most frequently used method with 48.8% success rate. Considering sarcoidosis with its most common and also rare findings in the differential diagnosis, organizing the related procedures according to the possibly effected areas, and the expertise of the team would favour multimodality diagnosis.

  6. [Alzheimer's disease cerebro-spinal fluid biomarkers: A clinical research tool sometimes useful in daily clinical practice of memory clinics for the diagnosis of complex cases].

    PubMed

    Magnin, E; Dumurgier, J; Bouaziz-Amar, E; Bombois, S; Wallon, D; Gabelle, A; Lehmann, S; Blanc, F; Bousiges, O; Hannequin, D; Jung, B; Miguet-Alfonsi, C; Quillard, M; Pasquier, F; Peoc'h, K; Laplanche, J-L; Hugon, J; Paquet, C

    2017-04-01

    The role of biomarkers in clinical research was recently highlighted in the new criteria for the diagnosis of Alzheimer's disease. Cerebro-spinal fluid (CSF) biomarkers (total Tau protein, threonine 181 phosphorylated Tau protein and amyloid Aβ1-42 peptide) are associated with cerebral neuropathological lesions observed in Alzheimer's disease (neuronal death, neurofibrillary tangle with abnormal Tau deposits and amyloid plaque). Aβ1-40 amyloid peptide dosage helps to interpret Aβ1-42 results. As suggested in the latest international criteria and the French HAS (Haute Autorité de santé) recommendations, using theses CSF biomarkers should not be systematic but sometimes could be performed to improve confidence about the diagnostic of Alzheimer's disease in young subjects or in complex clinical situations. Future biomarkers actually in development will additionally help in diagnostic process (differential diagnosis) and in prognostic evaluation of neurodegenerative diseases.

  7. Delayed Diagnosis, Leprosy Reactions, and Nerve Injury Among Individuals With Hansen's Disease Seen at a United States Clinic.

    PubMed

    Leon, Kristoffer E; Jacob, Jesse T; Franco-Paredes, Carlos; Kozarsky, Phyllis E; Wu, Henry M; Fairley, Jessica K

    2016-03-01

    Background.  Hansen's disease (HD), or leprosy, is uncommon in the United States. We sought to describe the characteristics of patients with HD in a US clinic, including an assessment of delays in diagnosis and HD reactions, which have both been associated with nerve damage. Methods.  A retrospective chart review was conducted on patients seen at an HD clinic in the southern United States between January 1, 2002 and January 31, 2014. Demographic and clinical characteristics were summarized, including delays in diagnosis, frequency of reactions, and other complications including peripheral neuropathy. Results.  Thirty patients were seen during the study time period. The majority of patients were male (73%) and had multibacillary disease (70%). Brazil, Mexico, and the United States were the most frequent of the 14 countries of origin. Hansen's disease "reactions", severe inflammatory complications, were identified among 75% of patients, and nerve damage was present at diagnosis in 36% of patients. The median length of time between symptom onset and diagnosis was long at 12 months (range, 1-96), but no single factor was associated with a delay in diagnosis. Conclusions.  The diagnosis of HD was frequently delayed among patients referred to our US clinic. The high frequency of reactions and neuropathy at diagnosis suggests that further efforts at timely diagnosis and management of this often unrecognized disease is needed to prevent the long-term sequelae associated with irreversible nerve damage.

  8. Delayed Diagnosis, Leprosy Reactions, and Nerve Injury Among Individuals With Hansen's Disease Seen at a United States Clinic

    PubMed Central

    Leon, Kristoffer E.; Jacob, Jesse T.; Franco-Paredes, Carlos; Kozarsky, Phyllis E.; Wu, Henry M.; Fairley, Jessica K.

    2016-01-01

    Background. Hansen's disease (HD), or leprosy, is uncommon in the United States. We sought to describe the characteristics of patients with HD in a US clinic, including an assessment of delays in diagnosis and HD reactions, which have both been associated with nerve damage. Methods. A retrospective chart review was conducted on patients seen at an HD clinic in the southern United States between January 1, 2002 and January 31, 2014. Demographic and clinical characteristics were summarized, including delays in diagnosis, frequency of reactions, and other complications including peripheral neuropathy. Results. Thirty patients were seen during the study time period. The majority of patients were male (73%) and had multibacillary disease (70%). Brazil, Mexico, and the United States were the most frequent of the 14 countries of origin. Hansen's disease “reactions”, severe inflammatory complications, were identified among 75% of patients, and nerve damage was present at diagnosis in 36% of patients. The median length of time between symptom onset and diagnosis was long at 12 months (range, 1–96), but no single factor was associated with a delay in diagnosis. Conclusions. The diagnosis of HD was frequently delayed among patients referred to our US clinic. The high frequency of reactions and neuropathy at diagnosis suggests that further efforts at timely diagnosis and management of this often unrecognized disease is needed to prevent the long-term sequelae associated with irreversible nerve damage. PMID:27186586

  9. Diagnosis and treatment of synovial chondromatosis of the TMJ: a clinical case

    PubMed Central

    Valentini, Valentino; Arangio, Paolo; Egidi, Sara; Capriotti, Marco; Vellone, Valentino; Costrechini, Marco; Boschi, Giulio; Cascone, Piero; Calafati, Vincenzo; Torre, Umberto; Ricciardi, Irma

    2013-01-01

    Summary Synovial chondromatosis is a rare, benign, chronic, progressive and proliferative lesion that usually affects large joints. This disease is characterized by the development of cartilaginous nodules within the space of synovial joints, tendon sheaths or cases; the nodules subsequently degrade, detach and form free-floating, calcified bodies within the joint space. In 1933, Axhausen described the first case of synovial chondromatosis affecting the temporomandibular joint. The aetiology still remains unknown, but a history of trauma and inflammation is often found. Clinical symptoms of chondromatosis affecting the TMJ are often characterized by swelling, pain, headache, crepitation, malocclusion and joint dysfunction. The big challenge concerning synovial chondromatosis is to suspect and establish a correct diagnosis. These nonspecific initial signs and symptoms may mimic other nonspecific TMJ’s diseases and can easily lead to a delay in diagnosis or a misdiagnosis. Here we present a case of synovial chondromatosis of the TMJ and the appropriate diagnostic and treatment performed. PMID:24611093

  10. The Clinical Manifestations, Diagnosis and Management of Williams-Campbell Syndrome

    PubMed Central

    Noriega Aldave, Adrian Pedro; William Saliski, DO

    2014-01-01

    Williams-Campbell syndrome is a rare congenital syndrome characterized by the absence of cartilage in subsegmental bronchi leading to formation of bronchiectasis distal to the affected bronchi. The differential diagnosis of bronchiectasis is broad and the rarity of the disease poses a diagnostic and management challenge for clinicians. This present review aims to help the understanding of the clinical manifestations, pathophysiological features, diagnostic modalities, management and differential diagnosis of Williams-Campbell syndrome. A MedLine/PubMed search was performed identifying all relevant articles. No restrictions were used for publication dates. The author used the keywords “Williams-Campbell syndrome,” “non-cystic fibrosis bronchiectasis” and “congenital bronchiectasis” finding 503, 195 and 489 articles, respectively. PMID:25317385

  11. Clinical examination of the knee: know your tools for diagnosis of knee injuries

    PubMed Central

    2011-01-01

    The clinical evaluation of the knee is a fundamental tool to correctly address diagnosis and treatment, and should never be replaced by the findings retrieved by the imaging studies carried on the patient. Every surgeon has his own series of exams with whom he is more confident and on whom he relies on for diagnosis. Usually, three sets of series are used: one for patello-femoral/extensor mechanism pathologies; one for meniscal and chondral (articular) lesions; and one for instability evaluation. This review analyses the most commonly used tests and signs for knee examination, outlining the correct way to perform the test, the correct interpretation of a positive test and the best management for evaluating an injured knee both in the acute and delayed timing. PMID:22035381

  12. Circulating extracellular vesicles in cancer diagnosis and monitoring: an appraisal of clinical potential.

    PubMed

    Choi, Dong-Sic; Lee, Jaewook; Go, Gyeongyun; Kim, Yoon-Keun; Gho, Yong Song

    2013-10-01

    Mammalian cells, including cancer cells, secrete extracellular vesicles. These vesicles are nanosized, bilayered proteolipids with diameters of 50-1,000 nm. It has been suggested that cancer cell-derived extracellular vesicles play diverse roles in cancer progression, which involve invasion, immune modulation, neovascularization, and metastasis. Moreover, their serum levels are significantly elevated in cancer patients compared with normal controls. Recent high-throughput proteomic and transcriptomic studies of these complex extracellular organelles have accelerated the discovery of cancer-specific biomarkers and the development of novel diagnostic tools based on extracellular vesicles. Although many vesicle-associated biomarker candidates have been reported for various types of cancer, few have been validated for clinical use due to preanalytical, technical, temporal, and financial problems. Here, we discuss the potential of extracellular vesicles as sources of biomarkers for cancer diagnosis and monitoring, as well as the limitations and obstacles to adoption of extracellular vesicle-based diagnosis.

  13. [Clinical Manifestations of Spinal Epidural Hematoma-Stroke Mimic and Pitfalls in Diagnosis].

    PubMed

    Kuriyama, Masaru

    2017-02-01

    Clinical manifestations of spinal epidural hematoma are presented, and the cases mimicking acute ischemic stroke have been reviewed from the literature. Many reports described the cases of spinal epidural hematoma with acute hemiparesis mimicking ischemic stroke in which intravenous thrombolytic treatment with recombinant tissue plasminogen activator was considered. A correct diagnosis of acute ischemic stroke must be made within 4.5 hours from the onset of symptoms, a relatively short window period. A spinal epidural hematoma is a potentially important stroke mimic in a wide variety of conditions that mimic a stroke. The literature review and discussion will emphasize allowing the distinction between these hemiparetic presentation of spinal epidural hematoma and acute ischemic stroke. A spinal epidural hematoma should be considered in the differential diagnosis of patients with acute onset of hemiparesis when associated with neck pain and signs of Horner's syndrome and Brown-Sēquard syndrome.

  14. Tentative clinical diagnosis of Lujan-Fryns syndrome--A conglomeration of different genetic entities?

    PubMed

    Hackmann, Karl; Rump, Andreas; Haas, Stefan A; Lemke, Johannes R; Fryns, Jean-Pierre; Tzschach, Andreas; Wieczorek, Dagmar; Albrecht, Beate; Kuechler, Alma; Ripperger, Tim; Kobelt, Albrecht; Oexle, Konrad; Tinschert, Sigrid; Schrock, Evelin; Kalscheuer, Vera M; Di Donato, Nataliya

    2016-01-01

    The clinical diagnosis of Lujan-Fryns syndrome (LFS) comprises X-linked intellectual disability (XLID) with marfanoid habitus, distinct combination of minor facial anomalies and nasal speech. However the definition of syndrome was significantly broadened since the original report and implies ID with marfanoid habitus. Mutations of three genes (MED12, UPF3B, and ZDHHC9) have been reported in "broadly defined" LFS. We examined these genes in 28 individuals with a tentative clinical diagnosis of LFS but we did not identify any causative mutation. By molecular karyotyping we detected other disorders, i.e., Phelan-McDermid syndrome and 16p11.2 microduplication, each in one patient. One affected individual was carrier of a different recurrent duplication on 16p11.2 that has been reported several times to the DECIPHER and ISCA databases in individuals with autism, intellectual disability (ID), and developmental delay. It may represent a new duplication syndrome. We also identified previously unreported de novo duplication on chromosome 12p13.31 which we considered to be disease-causing. X-exome sequencing of four individuals revealed private or non-recurrent mutations in NKAP and LAS1L in one patient each. While LFS is defined as a form of XLID, there seem to be various conditions that have rather similar phenotypes. Therefore, the combination of ID and marfanoid habitus in a male patient is not sufficient for the diagnosis of LFS. We suggest that the diagnosis of LFS in patients with ID and marfanoid habitus should be made only in presence of specific facial features, nasal speech and obvious X-linked segregation of the disorder or an unambiguously pathogenic mutation in the MED12.

  15. Clinically Significant Endometrial Cancer Risk Following a Diagnosis of Complex Atypical Hyperplasia

    PubMed Central

    COSTALES, Anthony B.; SCHMELER, Kathleen M.; BROADDUS, Russell; SOLIMAN, Pamela T.; WESTIN, Shannon N.; RAMIREZ, Pedro T.; FRUMOVITZ, Michael

    2014-01-01

    Objectives Because of the frequent detection of carcinoma in surgical specimens after hysterectomy for endometrial complex atypical hyperplasia (CAH), it has been suggested that patients with a preoperative diagnosis of CAH be referred to gynecologic oncology for potential lymphadenectomy. However, the risk of lymph node metastasis in such patients is unknown. We sought to determine the risk of endometrial cancer and to estimate the risk of lymphatic spread in women with a preoperative diagnosis of CAH. Study Design We retrospectively reviewed the medical records of 150 consecutive patients with a preoperative diagnosis of CAH who subsequently underwent hysterectomy. Clinical characteristics and pathologic information were abstracted. Risk of lymphatic spread was modeled using previously published criteria and nomograms. Results Fifty-five of the 150 patients (36.7%) had an incidental endometrial carcinoma at the time of hysterectomy. Among patients with a preoperative office biopsy compared to dilation and curettage, the rate of an incidental finding of cancer was 43.5% and 28.1%, respectively (p=0.054). Of patients with cancer, 1 (1.8%) had a grade 3 endometrial carcinoma, 4 (7.3%) had lymphovascular space involvement, and 6 (10.9%) had deep (>50%) myometrial invasion. For the 10 patients who underwent lymphadenectomy, one (10%) had lymph node metastases. Based on multiple models, the estimated risk of lymph node spread was 1.6-2.1% for all women with a preoperative diagnosis of CAH and 4.4-6.8% for the 55 women with endometrial cancer. Conclusions Given the high rates of underlying endometrial cancer and the potential need for lymphadenectomy, care for patients with a preoperative diagnosis of CAH desiring definitive management with hysterectomy should be referred to a gynecologic oncologist. PMID:25316176

  16. Clinical features and diagnosis of adult atopic keratoconjunctivitis and the effect of treatment with sodium cromoglycate.

    PubMed Central

    Jay, J L

    1981-01-01

    This study describes 17 cases of atopic keratoconjunctivitis in adults. In 8 cases the clinical appearances were nonspecific and sufficiently different from vernal keratoconjunctivitis to make diagnosis difficult. These atypical cases often showed a fine papillary conjunctival reaction on the upper tarsus, subconjunctival scarring, and in 1 case severe symblepharon. Corneal features included corneal microcysts, peripheral vascularisation, and various patterns of punctate epithelial keratitis. It was therefore important to establish the atopic status of the patient. A personal or family history of other atopic disease was elicited in every case, and the diagnosis was confirmed by the detection of raised serum IgE level. Uncontrolled clinical assessment suggested that 10 out of 15 patients experienced improvement in symptoms with the use of 2% sodium cromoglycate eyedrops 4 times a day. A subsequent double-masked cross-over trial comparing the same treatment with a matched placebo preparation indicated that 6 out of 9 patients preferred sodium cromoglycate while 1 preferred the placebo. Two patients noted no difference. Cases showing nonspecific or atypical clinical features responded to treatment just as frequently as did cases of typical vernal keratoconjunctivitis. Images PMID:6788069

  17. Botulism in Brazil, 2000-2008: epidemiology, clinical findings and laboratorial diagnosis.

    PubMed

    Rowlands, Ruth Estela Gravato; Ristori, Christiane Asturiano; Lopes, Giselle Ibette S Lopez; Paula, Ana Maria Ramalho de; Sakuma, Harumi; Grigaliunas, Raquel; Lopreato Filho, Roberto; Gelli, Dilma Scala; Eduardo, Maria Bernadete de Paula; Jakabi, Miyoko

    2010-01-01

    Botulism is a rare and potentially lethal illness caused by Clostridium botulinum neurotoxin. We describe the findings of a laboratorial investigation of 117 suspected cases of botulism reported to the surveillance system in Brazil from January 2000 to October 2008. Data on the number and type of samples analyzed, type of toxins identified, reporting of the number of botulism cases and transmission sources are discussed. A total of 193 clinical samples and 81 food samples were analyzed for detection and identification of the botulism neurotoxin. Among the clinical samples, 22 (11.4%) presented the toxin (nine type A, five type AB and eight with an unidentified type); in food samples, eight (9.9%) were positive for the toxin (five type A, one type AB and two with an unidentified type). Of the 38 cases of suspected botulism in Brazil, 27 were confirmed by a mouse bioassay. Laboratorial botulism diagnosis is an important procedure to elucidate cases, especially food-borne botulism, to confirm clinical diagnosis and to identify toxins in food, helping sanitary control measures.

  18. Clinical Applications of Hemolytic Markers in the Differential Diagnosis and Management of Hemolytic Anemia.

    PubMed

    Barcellini, W; Fattizzo, B

    2015-01-01

    Several hemolytic markers are available to guide the differential diagnosis and to monitor treatment of hemolytic conditions. They include increased reticulocytes, an indicator of marrow compensatory response, elevated lactate dehydrogenase, a marker of intravascular hemolysis, reduced haptoglobin, and unconjugated hyperbilirubinemia. The direct antiglobulin test is the cornerstone of autoimmune forms, and blood smear examination is fundamental in the diagnosis of congenital membrane defects and thrombotic microangiopathies. Marked increase of lactate dehydrogenase and hemosiderinuria are typical of intravascular hemolysis, as observed in paroxysmal nocturnal hemoglobinuria, and hyperferritinemia is associated with chronic hemolysis. Prosthetic valve replacement and stenting are also associated with intravascular and chronic hemolysis. Compensatory reticulocytosis may be inadequate/absent in case of marrow involvement, iron/vitamin deficiency, infections, or autoimmune reaction against bone marrow-precursors. Reticulocytopenia occurs in 20-40% of autoimmune hemolytic anemia cases and is a poor prognostic factor. Increased reticulocytes, lactate dehydrogenase, and bilirubin, as well as reduced haptoglobin, are observed in conditions other than hemolysis that may confound the clinical picture. Hemoglobin defines the clinical severity of hemolysis, and thrombocytopenia suggests a possible thrombotic microangiopathy or Evans' syndrome. A comprehensive clinical and laboratory evaluation is advisable for a correct diagnostic and therapeutic workup of the different hemolytic conditions.

  19. Severe Drug Hypersensitivity Reactions: Clinical Pattern, Diagnosis, Etiology and Therapeutic Options.

    PubMed

    Paulmann, Maren; Mockenhaupt, Maja

    2016-01-01

    Severe cutaneous adverse reactions (SCAR) are known for a high morbidity and mortality. They may be life-threatening for the affected patient and difficult to accomplish for the patient's family and the treating physician. Such conditions include not only bullous reactions like toxic epidermal necrolysis (TEN) and Stevens-Johnson syndrome (SJS), but also acute generalized exanthematous pustulosis (AGEP) and drug reaction with eosinophilia and systemic symptoms (DRESS). Since clinical pattern, etiology, prognosis and treatment differ among these severe skin reactions, a clear diagnosis based on a comprehensive clinical examination, skin biopsy, and specific laboratory tests is necessary. Because most of these reactions are caused by drug intake, a thorough history of medication use has to be obtained. However, there are cases with an infectious or idiopathic cause. In any case it is crucial to identify the most likely cause and rapidly discontinue the inducing agent, if a drug cause is suspected. This is associated with the patient`s prognosis which is often poor for bullous reaction. In addition, patient's age, underlying conditions, and the extent of skin detachment play a major role in terms of prognosis. Severe cutaneous adverse reactions are T-cell-mediated reactions, and certain alleles of human leukocyte antigens (HLA) are involved in the activation of T-cells with cytotoxic effect. The therapeutic options depend on the clinical diagnosis. For all reactions a symptomatic and adequate supportive therapy is necessary, in some cases a systemic immunomodulating therapy can be useful.

  20. [Functional neuroimaging in the diagnosis of patients with Parkinsonism: Update and recommendations for clinical use].

    PubMed

    Arbizu, J; Luquin, M R; Abella, J; de la Fuente-Fernández, R; Fernandez-Torrón, R; García-Solís, D; Garrastachu, P; Jiménez-Hoyuela, J M; Llaneza, M; Lomeña, F; Lorenzo-Bosquet, C; Martí, M J; Martinez-Castrillo, J C; Mir, P; Mitjavila, M; Ruiz-Martínez, J; Vela, L

    2014-01-01

    Functional Neuroimaging has been traditionally used in research for patients with different Parkinsonian syndromes. However, the emergence of commercial radiotracers together with the availability of single photon emission computed tomography (SPECT) and, more recently, positron emission tomography (PET) have made them available for clinical practice. Particularly, the development of clinical evidence achieved by functional neuroimaging techniques over the past two decades have motivated a progressive inclusion of several biomarkers in the clinical diagnostic criteria for neurodegenerative diseases that occur with Parkinsonism. However, the wide range of radiotracers designed to assess the involvement of different pathways in the neurodegenerative process underlying Parkinsonian syndromes (dopaminergic nigrostriatal pathway integrity, basal ganglia and cortical neuronal activity, myocardial sympathetic innervation), and the different neuroimaging techniques currently available (scintigraphy, SPECT and PET), have generated some controversy concerning the best neuroimaging test that should be indicated for the differential diagnosis of Parkinsonism. In this article, a panel of nuclear medicine and neurology experts has evaluated the functional neuroimaging techniques emphazising practical considerations related to the diagnosis of patients with uncertain origin parkinsonism and the assessment Parkinson's disease progression.

  1. Accuracy of clinical diagnosis of benign eyelid lesions: Is a dedicated nurse-led service safe and effective?

    PubMed

    Mohite, Abhijit A; Johnson, Andria; Rathore, Deepa S; Bhandari, Kamal; Crossman, Richard; Mehta, Purnima; Ahluwalia, Harpreet S

    2016-08-01

    This article compares an independent nurse-led benign lesion service with a doctor-led one, and assesses the impact of clinician seniority on diagnostic accuracy rates. Retrospective review of benign lesions referred to a teaching hospital and managed in either a doctor- or nurse-led lid service. All lesions were diagnosed clinically, excised and then sent for histological diagnosis. Lesions were categorized into subtypes. Pre-excision clinical diagnoses were compared with histological diagnoses. Sensitivity, specificity and missed malignancy rates were calculated for each subtype. Accuracy was compared between different grades of doctors and a specialist nurse. 264 and 332 lesions were managed in a doctor-led and nurse-led service, respectively. Rates of accurate sub-typing were 79.6% and 80.4% in the doctor- and nurse-led services, respectively (p > 0.05). Clinician seniority had no bearing. Missed malignancies or pre-malignancies accounted for 1.1% and 1.5% of lesions in the doctor and nurse-led services, respectively (p > 0.05). Overall, the remaining misdiagnoses were benign lesions of another subtype (13.6%) or non-specific histological findings (5.0%) and 98.6% of lesions were confirmed as benign on histology. Overall sensitivity and specificity values were: benign epithelial proliferations 95.6% and 92.2%, epidermal inclusion cysts 92.2% and 88.0%, xanthelasma 97.5% and 100.0%, cysts of Moll 66.7% and 96.6%, naevi 39.4% and 99.8% and molluscum 20.0% and 99.8%, respectively. A dedicated nurse-led service is as effective in managing a range of clinically benign lid lesions as a doctor-led one, and clinician seniority has little impact on the diagnostic accuracy of these lesions.

  2. Clinical practice guideline: diagnosis and management of childhood obstructive sleep apnea syndrome.

    PubMed

    2002-04-01

    This clinical practice guideline, intended for use by primary care clinicians, provides recommendations for the diagnosis and management of obstructive sleep apnea syndrome (OSAS). The Section on Pediatric Pulmonology of the American Academy of Pediatrics selected a subcommittee composed of pediatricians and other experts in the fields of pulmonology and otolaryngology as well as experts from epidemiology and pediatric practice to develop an evidence base of literature on this topic. The resulting evidence report was used to formulate recommendations for the diagnosis and management of childhood OSAS. The guideline contains the following recommendations for the diagnosis of OSAS: 1) all children should be screened for snoring; 2) complex high-risk patients should be referred to a specialist; 3) patients with cardiorespiratory failure cannot await elective evaluation; 4) diagnostic evaluation is useful in discriminating between primary snoring and OSAS, the gold standard being polysomnography; 5) adenotonsillectomy is the first line of treatment for most children, and continuous positive airway pressure is an option for those who are not candidates for surgery or do not respond to surgery; 6) high-risk patients should be monitored as inpatients postoperatively; 7) patients should be reevaluated postoperatively to determine whether additional treatment is required. This clinical practice guideline is not intended as a sole source of guidance in the evaluation of children with OSAS. Rather, it is designed to assist primary care clinicians by providing a framework for diagnostic decision-making. It is not intended to replace clinical judgment or to establish a protocol for all children with this condition and may not provide the only appropriate approach to this problem.

  3. First imported Plasmodium ovale malaria in Central America: case report of a Guatemalan soldier and a call to improve its accurate diagnosis.

    PubMed

    Castellanos, María Eugenia; Díaz, Sheilee; Parsons, Emily; Peruski, Leonard F; Enríquez, Fabiola; Ramírez, Juan Luis; Padilla, Norma

    2015-01-01

    The Mesoamerican Ministers of Health have set 2020 as the target for malaria elimination to be achieved in the region. Imported malaria cases are a potential threat to countries attempting elimination or working to prevent resurgence. We report the first imported Plasmodium ovale infection with molecular confirmation in Central America, which occurred in a Guatemalan soldier that had been deployed in Africa. The obstacles for its diagnosis using the standard microscopy technique and the need to improve its detection are discussed.

  4. Diagnosis and Treatment of Primary Adrenal Insufficiency: An Endocrine Society Clinical Practice Guideline

    PubMed Central

    Bornstein, Stefan R.; Allolio, Bruno; Arlt, Wiebke; Barthel, Andreas; Don-Wauchope, Andrew; Hammer, Gary D.; Husebye, Eystein S.; Merke, Deborah P.; Murad, M. Hassan; Stratakis, Constantine A.; Torpy, David J.

    2016-01-01

    Objective: This clinical practice guideline addresses the diagnosis and treatment of primary adrenal insufficiency. Participants: The Task Force included a chair, selected by The Clinical Guidelines Subcommittee of the Endocrine Society, eight additional clinicians experienced with the disease, a methodologist, and a medical writer. The co-sponsoring associations (European Society of Endocrinology and the American Association for Clinical Chemistry) had participating members. The Task Force received no corporate funding or remuneration in connection with this review. Evidence: This evidence-based guideline was developed using the Grading of Recommendations, Assessment, Development, and Evaluation (GRADE) system to determine the strength of recommendations and the quality of evidence. Consensus Process: The evidence used to formulate recommendations was derived from two commissioned systematic reviews as well as other published systematic reviews and studies identified by the Task Force. The guideline was reviewed and approved sequentially by the Endocrine Society's Clinical Guidelines Subcommittee and Clinical Affairs Core Committee, members responding to a web posting, and the Endocrine Society Council. At each stage, the Task Force incorporated changes in response to written comments. Conclusions: We recommend diagnostic tests for the exclusion of primary adrenal insufficiency in all patients with indicative clinical symptoms or signs. In particular, we suggest a low diagnostic (and therapeutic) threshold in acutely ill patients, as well as in patients with predisposing factors. This is also recommended for pregnant women with unexplained persistent nausea, fatigue, and hypotension. We recommend a short corticotropin test (250 μg) as the “gold standard” diagnostic tool to establish the diagnosis. If a short corticotropin test is not possible in the first instance, we recommend an initial screening procedure comprising the measurement of morning plasma ACTH

  5. [Rethinking clinical significance of tear osmolarity measurement for dry eye diagnosis and therapeutic efficacy evaluation].

    PubMed

    Liang, Lingyi; Ke, Hongming; Liu, Zuguo

    2014-09-01

    Increased tear osmolarity is one of the core mechanisms of dry eye and has been considered as an important diagnostic criterion, if not"gold standard", of dry eye. However, recent studies showed the limitations of tear osmolarity measurement not only in the diagnosis, but also in the therapeutic efficacy evaluation of dry eye. The clinical significance of tear osmolarity measurement has become a hot topic of argument. Herein, we review the publications on this topic and try to find the underlying causes of such argument.

  6. From Diagnosis to Treatment: Clinical Applications of Nanotechnology in Thoracic Surgery.

    PubMed

    Digesu, Christopher S; Hofferberth, Sophie C; Grinstaff, Mark W; Colson, Yolonda L

    2016-05-01

    Nanotechnology is an emerging field with potential as an adjunct to cancer therapy, particularly thoracic surgery. Therapy can be delivered to tumors in a more targeted fashion, with less systemic toxicity. Nanoparticles may aid in diagnosis, preoperative characterization, and intraoperative localization of thoracic tumors and their lymphatics. Focused research into nanotechnology's ability to deliver both diagnostics and therapeutics has led to the development of nanotheranostics, which promises to improve the treatment of thoracic malignancies through enhanced tumor targeting, controlled drug delivery, and therapeutic monitoring. This article reviews nanoplatforms, their unique properties, and the potential for clinical application in thoracic surgery.

  7. Computed tomographic mammography. Diagnosis of mammographically and clinically occult carcinoma of the breast.

    PubMed

    Sibala, J L; Chang, C H; Lin, F; Jewell, W R

    1981-01-01

    If breast cancer can be detected early, while it is still localized and before it can be palpated, the prognosis for cure is excellent. Heretofore, conventional mammography has been the only means available to detect cancer at such an early stage. Two cases of minimal breast carcinoma measuring less than 5 mm in diameter have been detected and correctly diagnosed using computed tomographic mammography (CT/M). Both cases occurred in fatty breasts and were clinically and mammographically occult. These cases demonstrate the value of CT/M in the diagnosis of minimal breast carcinoma that would have been missed otherwise.

  8. Clinical practice guidelines for the management of constipation in adults. Part 2: Diagnosis and treatment.

    PubMed

    Serra, Jordi; Mascort-Roca, Juanjo; Marzo-Castillejo, Mercè; Aros, Silvia Delgado; Ferrándiz Santos, Juan; Rey Diaz Rubio, Enrique; Mearin Manrique, Fermín

    2017-04-01

    Constipation is a very common disorder that adversely affects well-being and quality of life. Evidence-based clinical practice guidelines are an essential element for proper patient management and safe, effective treatment. The aim of these guidelines is to provide health care professionals who care for patients with chronic constipation with a tool that allows them to make the best decisions about the prevention, diagnosis and treatment of constipation. The methodology used to draw up these guidelines is described in the Part 1. In this article we will discuss the recommendations for the diagnostic and therapeutic management of constipation.

  9. [The value of the triad: clinical examination, mammography and needle aspiration cytology in the diagnosis of breast carcinoma. Our experience].

    PubMed

    Cipolla, C; Amato, C; Di Lisi, G; Graceffa, G; Cassano, T; Salanitro, L; Bajardi, G; De Simone, G F; Barberi, G; Tomasino, R M

    1990-11-01

    Based on the authors' personal experience of the use of the triad, clinical examination, mammography and needle-aspiration cytology, in the strategic diagnosis of breast cancer, the paper emphasizes the importance of early diagnosis as the sole means of obtaining an improved outcome. Using this integrated methodology the authors have obtained a specificity of 99%, sensitivity of 97.8%, and a diagnostic accuracy and prognostic value for positive tests of 98%. In conclusion, the authors affirm that the comparative interpretation of clinical examination, mammography and cytology appears to be an extremely efficacious and reliable method for the diagnosis of the nature of breast nodules.

  10. Impact of Contrast Echocardiography on Assessment of Ventricular Function and Clinical Diagnosis in Routine Clinical Echocardiography: Korean Multicenter Study

    PubMed Central

    Kim, Doo-Youp; Choi, Jung-Hyun; Rim, Se-Joong; Kim, Jang-Young; Lee, Sang-Chol; Sohn, Il-Suk; Chung, Wook-Jin; Seo, Hye-Sun; Yoon, Se-Jung; Cho, Kyoung-Im; Choi, Si-Wan; Lee, Kyung-Jin

    2017-01-01

    Background Fundamental echocardiography has some drawbacks in patients with difficult-to-image echocardiograms. The aim of this study is to evaluate impact of contrast echocardiography (CE) on ventricular function assessment and clinical diagnosis in routine clinical echocardiography. Methods Two hundred sixty patients were prospectively enrolled over 3 years in 12 medical centers in Korea. General image quality, the number of distinguishable segments, ability to assess regional wall motion, left ventricular (LV) apex and right ventricle (RV) visualization, LV ejection fraction, changes in diagnostic or treatment plan were documented after echocardiography with and without ultrasound contrast agent. Results Poor or uninterpretable general image was 31% before contrast use, and decreased to 2% (p<0.05) after contrast use. The average number of visualized LV segments was 9.53 before contrast use, and increased to 14.46 (p<0.001) after contrast use. The percentage of poor or not seen LV regional wall motion was decreased from 28.4% to 3.5% (p<0.001). The percentage of poor or not seen LV apex and RV was decreased from 49.4% to 2.4% (p<0.001), from 30.5% to 10.5% (p<0.001), respectively. Changes in diagnostic procedure and treatment plan after CE were 30% and 29.6%, respectively. Conclusion Compared to fundamental echocardiography, CE impacted LV function assessment and clinical decision making in Korean patients who undergo routine echocardiography.

  11. [Celiac disease. Recent findings on its pathogenesis, diagnosis and clinical presentation].

    PubMed

    Volta, U

    1999-01-01

    Coeliac disease is a gluten-sensitive enteropathy which results in a permanent malabsorption of nutrients in that portion of the small intestine (the jejunum) that is damaged. A genetic, inheritable disease, it is directly related to ingestion of certain wheat proteins especially found in rye secalins, barley hordeins and, in a much lower amount, oat avenins. A fundamental role in the pathological response is played by grain prolamins (gliadins). The actual damage to intestinal mucosa is almost certainly mediated by the immune system but its mechanism has not been so far clarified. Coeliac disease incidence rate is ever increasing among children and adolescents and it is rather frequently reported as relapsing in the third and fourth decade. The most distressing problems of malabsorption syndrome are diarrhea, weight loss, meteorism, abdominal pain, vomiting and asthenia; nonetheless, not all patients report symptoms. Both diagnosis and differential diagnosis--intestinal lymphoma, refractory sprue--prove difficult: a diagnosis of gluten intolerance can be made through careful consideration of a series of laboratory findings which are being improved by researchers in order to avoid delays for patients with probable gluten-sensitive enteropathy with non-specific symptoms. Although there may be many clinical signs and laboratory tests indicating probable malabsorption, the likely gold standard of diagnosing coeliac disease remains to be the jejunal biopsy.

  12. [Microbiological diagnosis of gas gangrene caused by Clostridium septicum (a clinical case)].

    PubMed

    Men'shikova, E D; Titova, G P; Kartavenko, V I; Sokolov, V A; Shabanov, A K; Men'shikov, D D

    2010-08-01

    Microscopy of gram-stained impression smears is used for the rapid diagnosis of microorganisms in the wound. The shin tissues of patient P. with suspected gas gangrene of lower extremity soft tissues were microscopically found to have gram-positive spore-forming bacteria that were morphologically similar to C. bifermentans that were identified as C. septicum on cultural diagnosis. The pathogenic C. septicum strain spores were likely to be formed in the macroorganism upon exposure of the pathogen to a patient's defense factors and to a package of therapeutic measures. Microbiological data should be used only in combination with clinical and instrumental findings and the results of other laboratory studies when the optimal technology is chosen to treat gas infection. By keeping in mind that there may be clostridial gangrene in the patients and the experience of clinicians and bacteriologists may be insufficient in diagnosing this pathology, it is necessary to strengthen the training of physicians in the diagnosis of this pathology.

  13. [Diagnosis of bacterial vaginosis in women attending a family planning clinic in the Metropolitan Region of Chile].

    PubMed

    Lillo G, Eduardo; Lizama I, Sandra; Medel C, Jorge; Martínez T, M Angélica

    2010-06-01

    In order to determine the prevalence of bacterial vaginosis (BV) among women attending a family health Center and to evaluate the accuracy of Amsel's diagnostic procedure relative to Nugent scoring for diagnosing this condition, we obtained vaginal specimens from 100 women under 50 years attending a FPC from April to November of 2006. Women were enrolled consecutively on a schedule basis and were not selected by symptoms of genital infection. VB was diagnosed in 32% women, without significant differences by age (p=0,114). 87.5% women declared one sexual partner in the last 6 months. The Amsel's method had a sensitivity of 62.1%, and a specificity of 92.3%, with positive and negative predictive values of 81.8% and 83.3% respectively, being the presence of clue cells the most accurate parameter. Nevertheless, the lack of microscopes in the clinical practice limits the use of the Amsel's criteria. In conclusion, VB is a prevalent infection in the study population, being not associated with age or sexual activity. Diagnosis should be performed by the Nugent method.

  14. Laboratory reporting of hemostasis assays: the final post-analytical opportunity to reduce errors of clinical diagnosis in hemostasis?

    PubMed

    Favaloro, Emmanuel J; Lippi, Giuseppe

    2010-03-01

    The advent of modern instrumentation, with associated improvements in test performance and reliability, together with appropriate internal quality control (IQC) and external quality assurance (EQA) measures, has led to substantial reductions in analytical errors within hemostasis laboratories. Unfortunately, the reporting of incorrect or inappropriate test results still occurs, perhaps even as frequently as in the past. Many of these cases arise due to a variety of events largely outside the control of the laboratories performing the tests. These events are primarily preanalytical, related to sample collection and processing, but can also include post-analytical events related to the reporting and interpretation of test results. The current report provides an overview of these events, as well as guidance for prevention or minimization. In particular, we propose several strategies for the post-analytical reporting of hemostasis assays, and how this may provide the final opportunity to prevent serious clinical errors in diagnosis. This report should be of interest to both the laboratory scientists working in hemostasis and clinicians that request and attempt to interpret the test results. Laboratory scientists are ultimately responsible for these test results, and there is a duty to provide both accurate and precise results to enable clinicians to manage patients appropriately and to avoid the need to recollect and retest. Also, clinicians will not be in a position to best diagnose and manage their patient unless they gain an appreciation of these issues.

  15. [Anorexia nervosa in adolescents. Clinical aspects of the diagnosis and a follow-up].

    PubMed

    Saccomani, L; Savoini, M; Naselli, A; Cirrincione, M; Matricardi, A

    1989-01-01

    In a brief review of the literature, the diagnostic, prognostic and therapeutic criteria of anorexia nervosa in adolescence are considered. An interdisciplinary approach (child neuropsychiatrists, clinical psychologists, auxological pediatricians) was adopted in 52 cases with a diagnosis of anorexia nervosa (46 females, 6 males; mean age 14). The results of the analysis of somatic disturbances (weight loss, anomalous sexual maturation), psychological aspects (cognitive level, organization of the personality), environmental implications (familial, social and school adjustment; mother-child relationship; pedagogic modalities; social and economic factors) are reported. The data from a follow-up of 29 patients (26 females, 3 males; mean age 19) are reported, and the degree of recovery assessed as follows: 1) clinical recovery at somatic-adjustment level (79% complete, 17% with atypical characteristics); 2) achievement of a harmonic organization of the personality (48%). The paper concludes with some remarks on the treatment, prognosis and prospects for prevention of the condition.

  16. NOS2 and CCL27: clinical implications for psoriasis and eczema diagnosis and management.

    PubMed

    Garzorz, Natalie; Eyerich, Kilian

    2015-02-01

    Chronic inflammatory skin diseases such as psoriasis and eczema are a major medical challenge. Development of highly specific therapies for both conditions is opposed by the lack of translation of basic knowledge into biomarkers for clinical use. Furthermore, to distinguish psoriasis from eczema might be difficult occasionally, but specific and costly therapies would not be efficient in misdiagnosed patients. In the era of high-throughput 'omics'-technologies, comparing the molecular signature of psoriasis and eczema is a promising approach to gain insight into their complex pathogeneses and develop new diagnostic and therapeutic strategies. Investigating patients affected by both psoriasis and eczema simultaneously, we recently constructed a disease classifier consisting of only two genes (NOS2 and CCL27) that reliably predicts the correct diagnosis even in clinically unclear cases. When such easy-to-handle approaches are combined with individual therapeutic response, we might reach the ultimate goal of personalized medicine in inflammatory skin diseases in near future.

  17. Clinical, genetic, and neuroimaging features of Early Onset Alzheimer Disease: the challenges of diagnosis and treatment.

    PubMed

    Alberici, Antonella; Benussi, Alberto; Premi, Enrico; Borroni, Barbara; Padovani, Alessandro

    2014-01-01

    Early Onset Alzheimer Disease (EOAD) is a rare condition, frequently associated with genetic causes. The dissemination of genetic testing along with biomarker determinations have prompted a wider recognition of EOAD in experienced clinical settings. However, despite the great efforts in establishing the contribution of causative genes to EOAD, atypical disease presentation and clinical features still makes its diagnosis and treatment a challenge for the clinicians. This review aims to provide an extensive evaluation of literature data on EOAD, in order to improve understanding and knowledge of EOAD, underscore its significant impact on patients and their caregivers and influence public policies. This would be crucial to define the urgency of evidence-based treatment approaches.

  18. Standardized serum GM-CSF autoantibody testing for the routine clinical diagnosis of autoimmune pulmonary alveolar proteinosis.

    PubMed

    Uchida, Kanji; Nakata, Koh; Carey, Brenna; Chalk, Claudia; Suzuki, Takuji; Sakagami, Takuro; Koch, Diana E; Stevens, Carrie; Inoue, Yoshikazu; Yamada, Yoshitsugu; Trapnell, Bruce C

    2014-01-15

    Autoantibodies against granulocyte/macrophage colony-stimulating factor (GMAbs) cause autoimmune pulmonary alveolar proteinosis (PAP) and measurement of the GMAb level in serum is now commonly used to identify this disease, albeit, in a clinical research setting. The present study was undertaken to optimize and standardize serum GMAb concentration testing using a GMAb enzyme-linked immunosorbent assay (GMAb ELISA) to prepare for its introduction into routine clinical use. The GMAb ELISA was evaluated using serum specimens from autoimmune PAP patients, healthy people, and GMAb-spiked serum from healthy people. After optimizing assay components and procedures, its accuracy, precision, reliability, sensitivity, specificity, and ruggedness were evaluated. The coefficient of variation in repeated measurements was acceptable (<15%) for well-to-well, plate-to-plate, day-to-day, and inter-operator variation, and was not affected by repeated freeze-thaw cycles of serum specimens or the reference standards, or by storage of serum samples at -80°C. The lower limit of quantification (LLOQ) of the PAP patient-derived polyclonal GMAb reference standard (PCRS) was 0.78ng/ml. Receiver operating characteristic curve analysis identified a serum GMAb level of 5μg/ml (based on PCRS) as the optimal cut off value for distinguishing autoimmune PAP serum from normal serum. A pharmaceutical-grade, monoclonal GMAb reference standard (MCRS) was developed as the basis of a new unit of measure for GMAb concentration: one International Unit (IU) of GMAb is equivalent to 1μg/ml of MCRS. The median [interquartile range] serum GMAb level was markedly higher in autoimmune PAP patients than in healthy people (21.54 [12.83-36.38] versus 0.08 [0.05-0.14] IU; n=56, 38; respectively; P<0.0001). Results demonstrate that serum GMAb measurement using the GMAb ELISA was accurate, precise, reliable, had an acceptable LLOQ, and could be accurately expressed in standardized units. These findings support the

  19. Ultrasound imaging as the basis of a clinical diagnosis of systemic bartonellosis in a patient after bone marrow transplantation. A case report

    PubMed Central

    Goździk, Jolanta; Woźniak, Magdalena; Czogała, Wojciech

    2016-01-01

    Infections in immunocompromised patients after hematopoietic stem cell transplantation can have a severe and atypical course. Some opportunistic pathogens are difficult to detect in microbiological tests, and that is why treatment success depends on an accurate clinical diagnosis. This article presents a case of a 7-year-old girl with severe aplastic anemia treated with bone marrow transplantation with post-transplantation period complicated by persistent, hectic fever, with peak episodes of 39–40°C, lasting several weeks. Repeated microbiological tests failed to reveal the etiological agent, and empirical anti-infective treatment was ineffective. In the fourth week of fever, imaging showed multiple foci resembling abscesses in the patient's internal organs and, subsequently, in soft tissues. The characteristics of these changes and data concerning environmental exposure led to the clinical diagnosis of cat scratch disease (bartonellosis) with multi-organ involvement and enabled the targeted treatment to be implemented. Fever subsided and organ lesions regressed. In this case, repeated ultrasound imaging was the basic diagnostic tool that helped arrive at a correct diagnosis and implement effective treatment of this life-threatening complication after hematopoietic stem cell transplantation. PMID:27446604

  20. Production, characterization, and application of monoclonal antibodies specific to recombinant (E2) structural protein in antigen-capture ELISA for clinical diagnosis of Chikungunya virus.

    PubMed

    Kumar, Jyoti S; Khan, Mohsin; Gupta, Garima; Bhoopati, Manna; Lakshmana Rao, P V; Parida, Manmohan

    2012-04-01

    The resurgence of Chikungunya (CHIK) virus in the form of an explosive, unprecedented epidemic with high virulence and unusual numbers of fatalities has created an immense public health concern in recent years. In the absence of an effective vaccine and specific antiviral therapy, early accurate diagnosis is essential for the best patient management. The present study describes the production and characterization of high-affinity and selective monoclonal antibodies (Mabs) against recombinant E2 protein (rE2) of the CHIK virus. The reactivity of Mabs for rE2 protein was demonstrated using ELISA. The specificity of the generated Mabs for rE2 was demonstrated by Western blot and indirect immunofluorescence. The application of this CHIK virus E2-specific monoclonal antibody in early clinical diagnosis was demonstrated by various analytical methods, such as immunoblotting, indirect immunofluorescence assay (IFA), and antigen-capture ELISA (AC-ELISA), for the detection as well as the identification of the novel ECSA genotypes of CHIK virus. These findings suggest that the high-affinity E2-specific monoclonal antibodies reported in this study will be useful for early clinical diagnosis and epidemiological studies of CHIK virus in developing countries.

  1. Clinical value of serum Epstein-Barr virus DNA assay in the diagnosis of nasopharyngeal carcinoma.

    PubMed

    Sun, Dezhong; Yang, Zhaoke; Fu, Yugui; Chen, Yanlin; Wang, Shoufeng; Zhang, Yun; Ma, Yanyi; Zhang, Xiaoyan

    2014-09-01

    Serum Epstein-Barr virus DNA has been approved for diagnosing nasopharyngeal carcinoma (NPC). The goal of this meta-analysis was to evaluate the clinical value of the serum Epstein-Barr virus DNA in the diagnosis of NPC. The PubMed, Embase, Web of Knowledge, Chinese Wanfang Med Online, and National Knowledge Infrastructure (CNKI) databases were searched to identify suitable studies. The pooled sensitivity, specificity, positive likelihood ratio (LR+), negative likelihood ratio (LR-), and diagnostic odds ratio (DOR) of the serum Epstein-Barr virus DNA for the diagnosis of NPC were calculated. Summary receiver operating characteristic curves were used to summarize overall test performances. Meta-Disc 1.4 and Stata 12.0 softwares were used to analyze the data. A total of 2,520 patients from ten trials were subjected to meta-analysis. The summary estimates of the serum Epstein-Barr virus DNA for NPC diagnosis were as follows: sensitivity 0.69 (95 % confidence interval (CI) 0.65-0.72), specificity 0.84 (95 % CI = 0.82-0.86), LR + 4.81 (95 % CI = 2.94-7.88), LR - 0.25 (95 % CI = 0.13-0.48), DOR 24.65 (95 % CI = 12.64-48.07), and area under the summary receiver operator characteristic (SROC) curve (AUC) was 0.8979. Our study demonstrates that the serum Epstein-Barr virus DNA could be a useful tumor marker for NPC diagnosis.

  2. Matrix-assisted laser desorption ionization time-of-flight mass spectrometry for fast and accurate identification of clinically relevant Aspergillus species.

    PubMed

    Alanio, A; Beretti, J-L; Dauphin, B; Mellado, E; Quesne, G; Lacroix, C; Amara, A; Berche, P; Nassif, X; Bougnoux, M-E

    2011-05-01

    New Aspergillus species have recently been described with the use of multilocus sequencing in refractory cases of invasive aspergillosis. The classical phenotypic identification methods routinely used in clinical laboratories failed to identify them adequately. Some of these Aspergillus species have specific patterns of susceptibility to antifungal agents, and misidentification may lead to inappropriate therapy. We developed a matrix-assisted laser desorption ionization time-of-flight (MALDI-TOF) mass spectrometry (MS)-based strategy to adequately identify Aspergillus species to the species level. A database including the reference spectra of 28 clinically relevant species from seven Aspergillus sections (five common and 23 unusual species) was engineered. The profiles of young and mature colonies were analysed for each reference strain, and species-specific spectral fingerprints were identified. The performance of the database was then tested on 124 clinical and 16 environmental isolates previously characterized by partial sequencing of the β-tubulin and calmodulin genes. One hundred and thirty-eight isolates of 140 (98.6%) were correctly identified. Two atypical isolates could not be identified, but no isolate was misidentified (specificity: 100%). The database, including species-specific spectral fingerprints of young and mature colonies of the reference strains, allowed identification regardless of the maturity of the clinical isolate. These results indicate that MALDI-TOF MS is a powerful tool for rapid and accurate identification of both common and unusual species of Aspergillus. It can give better results than morphological identification in clinical laboratories.

  3. Clinical study of noninvasive in vivo melanoma and nonmelanoma skin cancers using multimodal spectral diagnosis

    PubMed Central

    Lim, Liang; Nichols, Brandon; Migden, Michael R.; Rajaram, Narasimhan; Reichenberg, Jason S.; Markey, Mia K.; Ross, Merrick I.; Tunnell, James W.

    2014-01-01

    Abstract. The goal of this study was to determine the diagnostic capability of a multimodal spectral diagnosis (SD) for in vivo noninvasive disease diagnosis of melanoma and nonmelanoma skin cancers. We acquired reflectance, fluorescence, and Raman spectra from 137 lesions in 76 patients using custom-built optical fiber-based clinical systems. Biopsies of lesions were classified using standard histopathology as malignant melanoma (MM), nonmelanoma pigmented lesion (PL), basal cell carcinoma (BCC), actinic keratosis (AK), and squamous cell carcinoma (SCC). Spectral data were analyzed using principal component analysis. Using multiple diagnostically relevant principal components, we built leave-one-out logistic regression classifiers. Classification results were compared with histopathology of the lesion. Sensitivity/specificity for classifying MM versus PL (12 versus 17 lesions) was 100%/100%, for SCC and BCC versus AK (57 versus 14 lesions) was 95%/71%, and for AK and SCC and BCC versus normal skin (71 versus 71 lesions) was 90%/85%. The best classification for nonmelanoma skin cancers required multiple modalities; however, the best melanoma classification occurred with Raman spectroscopy alone. The high diagnostic accuracy for classifying both melanoma and nonmelanoma skin cancer lesions demonstrates the potential for SD as a clinical diagnostic device. PMID:25375350

  4. Cutaneous manifestations of antiphospholipid syndrome: a review of the clinical features, diagnosis and management.

    PubMed

    Pinto-Almeida, Teresa; Caetano, Mónica; Sanches, Madalena; Selores, Manuela

    2013-01-01

    Antiphospholipid syndrome is a relatively recent systemic autoimmune disorder defined by thrombotic events and/or obstetric complications in the presence of persistent elevated antiphospholipid antibodies. It\\'s characterized by a wide spectrum of clinical presentations and virtually any organ system or tissue may be affected by the consequences of vascular occlusion. Diagnosis is sometimes difficult and although classification criteria have been published and revised there remain ongoing issues regarding nomenclature, expanding clinical features, laboratory tests and management and much still has to be done. Cutaneous manifestations are common and frequently the first sign of the disease. Although extremely diverse it\\'s important to know which dermatological findings should prompt consideration of antiphospholipid syndrome and the appropriate management for those patients. Much has been debated about when to consider antiphospholipid syndrome and consensus still does not exist, however in spite of being a diagnostic challenge clinicians should know when to look for antiphospholipid antibodies since an early diagnosis is important to prevent further and serious complications. In this article we focus on the cutaneous features that should raise suspicion on the presence of antiphospholipid syndrome and on the complex management of such patients. Many other dermatological signs related to this syndrome have been described in the literature but only occasionally and without consistency or statistic impact and therefore will not be considered here.

  5. Applying and testing the conveniently optimized enzyme mismatch cleavage method to clinical DNA diagnosis.

    PubMed

    Niida, Yo; Kuroda, Mondo; Mitani, Yusuke; Okumura, Akiko; Yokoi, Ayano

    2012-11-01

    Establishing a simple and effective mutation screening method is one of the most compelling problems with applying genetic diagnosis to clinical use. Because there is no reliable and inexpensive screening system, amplifying by PCR and performing direct sequencing of every coding exon is the gold standard strategy even today. However, this approach is expensive and time consuming, especially when gene size or sample number is large. Previously, we developed CEL nuclease mediated heteroduplex incision with polyacrylamide gel electrophoresis and silver staining (CHIPS) as an ideal simple mutation screening system constructed with only conventional apparatuses and commercially available reagents. In this study, we evaluated the utility of CHIPS technology for genetic diagnosis in clinical practice by applying this system to screening for the COL2A1, WRN and RPS6KA3 mutations in newly diagnosed patients with Stickler syndrome (autosomal dominant inheritance), Werner syndrome (autosomal recessive inheritance) and Coffin-Lowry syndrome (X-linked inheritance), respectively. In all three genes, CHIPS detected all DNA variations including disease causative mutations within a day. Direct sequencing of all coding exons of these genes confirmed 100% sensitivity and specificity. We demonstrate high sensitivity, high cost performance and reliability of this simple system, with compatibility to all inheritance modes. Because of its low technology, CHIPS is ready to use and potentially disseminate to any laboratories in the world.

  6. Non-invasive diagnosis and continuous monitoring of thrombosis in clinics by near-infrared spectroscopy

    NASA Astrophysics Data System (ADS)

    Li, Ting; Sun, Yunglong; Chen, Xiao; Zhao, Yue; Ren, Rongrong; Liu, Mushuang

    2015-03-01

    Thrombosis became one of the most severe disease hazard to human health, and it incidence rate grows increasingly higher throughout the world. The conventional diagnosis and monitoring thrombosis mainly relied on the invasive techniques, e.g., digital subtraction angiography and blood sample analysis, and expensive and ionizing techniques, e.g., magnetic resonance angiography. And those techniques can not measure continuously. Here we reported our preliminary exploration of using near-infrared spectroscopy (NIRS) in clinical monitoring of thrombosis. 7 healthy subjects and 6 thrombosis patients at similar age participated the NIRS measurements of oxy- and deoxy- hemoglobin ([HbO2] and [Hb]) on 6 particular parts of legs. We repeated [HbO2] measurement at the same specified time each day after thrombolytic therapy for one single-leg-DVT patient, and terminated till the patient was cured and left hospital. We found that - (1) [HbO2] kept lower in thrombosis patients and [Hb] kept lower in healthy people (p<0.001) (2) [HbO2] kept increasing in the thrombosis leg but decreasing in healthy leg for the patients after thrombolytic therapy, and coincidently, [HbO2] acted consistent just when the patients were cured and left. Our study successfully extended the application of NIRS in noninvasive, continuous, and low-cost monitoring of thrombosis in clinics. Our findings showed the powerful potential of [HbO2] by NIRS in diagnosis and therapeutic effect evaluation of thrombosis.

  7. Miller Fisher Syndrome: A Case Report Highlighting Heterogeneity of Clinical Features and Focused Differential Diagnosis

    PubMed Central

    Allison, Randall Z; Kaminskas, David A; Zagorski, Natalia M; Liow, Kore K

    2016-01-01

    Miller Fisher Syndrome (MFS) is a rare variant of Guillain-Barré Syndrome (GBS) that has a geographically variable incidence. It is largely a clinical diagnosis based on the cardinal clinical features of ataxia, areflexia, and opthalmoplegia, however, other neurological signs and symptoms may also be present. Serological confirmation with the anti-GQ1b antibody is available and allows for greater diagnostic certainty in the face of confounding symptoms. A self-limiting course is typical of MFS. The following case report is that of a patient who presented with generalized weakness, somatic pain, inability to walk, and diplopia following an upper respiratory illness. The patient exhibited the classic triad of ataxia, areflexia, and opthalmoplegia characteristic of MFS, but also had less typical signs and symptoms making for a more challenging diagnostic workup. Our suspected diagnosis of MFS was serologically confirmed with positive anti-GQ1b antibody titer and the patient was successfully treated with Intravenous immune globulin (IVIG). PMID:27437164

  8. Diagnosis of breast cancer using elastic-scattering spectroscopy: preliminary clinical results

    NASA Astrophysics Data System (ADS)

    Bigio, Irving J.; Brown, Stephen G.; Briggs, Gavin M.; Kelley, Christine; Lakhani, Sunil; Pickard, David; Ripley, Paul M.; Rose, Ian; Saunders, Christobel

    2000-04-01

    We report on the first stages of a clinical study designed to test elastic-scattering spectroscopy, medicated by fiberoptic probes, for three specific clinical applications in breast-tissue diagnosis: (1) a transdermal-needle (interstitial) measurement for instant diagnosis with minimal invasiveness similar to fine-needle aspiration but with sensitivity to a larger tissue volume, (2) a hand-held diagnostic probe for use in assessing tumor/resection margins during open surgery, and (3) use of the same probe for real-time assessment of the `sentinel' node during surgery to determine the presence or absence of tumor (metastatic). Preliminary results from in vivo measurements on 31 women are encouraging. Optical spectra were measured on 72 histology sites in breast tissue, and 54 histology sites in sentinel nodes. Two different artificial intelligence methods of spectral classification were studied. Artificial neural networks yielded sensitivities of 69% and 58%, and specificities of 85% and 93%, for breast tissue and sentinel nodes, respectively. Hierarchical cluster analysis yielded sensitivities of 67% and 91%, and specificities of 79% and 77%, for breast tissue and sentinel nodes, respectively. These values are expected to improve as the data sets continue to grow and more sophisticated data preprocessing is employed. The study will enroll up to 400 patients over the next two years.

  9. Multiple sclerosis presented as clinically isolated syndrome: the need for early diagnosis and treatment

    PubMed Central

    Pelidou, Sigliti-Henrietta; Giannopoulos, Sotirios; Tzavidi, Sotiria; Lagos, Georgios; Kyritsis, Athanassios P

    2008-01-01

    Objective To aid in the timely diagnosis of patients who present with clinically isolated syndrome (CIS). Patients and methods We studied 25 patients (18 women, 7 men), originally presented in our clinic with a CIS suggestive of multiple sclerosis (MS). All patients underwent the full investigation procedure including routine tests, serology, cerebrospinal fluid (CSF) examinations, evoked potentials (EPs), and magnetic resonance imaging (MRI) of brain and cervical spinal cord. Patients were imaged at baseline, and every three months thereafter up to a year. Results The CIS was consisted of optic neuritis in 12 cases, incomplete transverse myelitis (ITM) in 7 cases, Lhermitte sign in 2 cases, internuclear ophthalmoplegia (INO) in 2 cases, mild brainstem syndrome in 1 case, and tonic-clonic seizures in 1 case. Using the baseline and three-month scans 18/25 (72%) patients developed definite MS in one year of follow up while 7 (28%) had no further findings during this observation period. Immunomodulatory treatments were applied to all definite MS patients. Conclusion In light of new treatments available, MRIs at 3 month intervals are helpful to obtain the definite diagnosis of MS as early as possible. PMID:18827858

  10. Clinical study of noninvasive in vivo melanoma and nonmelanoma skin cancers using multimodal spectral diagnosis

    NASA Astrophysics Data System (ADS)

    Lim, Liang; Nichols, Brandon; Migden, Michael R.; Rajaram, Narasimhan; Reichenberg, Jason S.; Markey, Mia K.; Ross, Merrick I.; Tunnell, James W.

    2014-11-01

    The goal of this study was to determine the diagnostic capability of a multimodal spectral diagnosis (SD) for in vivo noninvasive disease diagnosis of melanoma and nonmelanoma skin cancers. We acquired reflectance, fluorescence, and Raman spectra from 137 lesions in 76 patients using custom-built optical fiber-based clinical systems. Biopsies of lesions were classified using standard histopathology as malignant melanoma (MM), nonmelanoma pigmented lesion (PL), basal cell carcinoma (BCC), actinic keratosis (AK), and squamous cell carcinoma (SCC). Spectral data were analyzed using principal component analysis. Using multiple diagnostically relevant principal components, we built leave-one-out logistic regression classifiers. Classification results were compared with histopathology of the lesion. Sensitivity/specificity for classifying MM versus PL (12 versus 17 lesions) was 100%;/100%;, for SCC and BCC versus AK (57 versus 14 lesions) was 95%;/71%, and for AK and SCC and BCC versus normal skin (71 versus 71 lesions) was 90%/85%. The best classification for nonmelanoma skin cancers required multiple modalities; however, the best melanoma classification occurred with Raman spectroscopy alone. The high diagnostic accuracy for classifying both melanoma and nonmelanoma skin cancer lesions demonstrates the potential for SD as a clinical diagnostic device.

  11. Evaluation of Clinical Alvarado Scoring System and CT Criteria in the Diagnosis of Acute Appendicitis.

    PubMed

    Gunes Tatar, Idil; Yilmaz, Kerim Bora; Sahin, Alpaslan; Aydin, Hasan; Akinci, Melih; Hekimoglu, Baki

    2016-01-01

    Aim. The aim was to evaluate the clinical Alvarado scoring system and computed tomography (CT) criteria for the diagnosis of acute appendicitis. Material and Methods. 117 patients with acute abdominal pain who underwent abdominal CT were enrolled in this retrospective study. Patient demographics, clinical Alvarado scoring, CT images, and pathologic results of the patients were evaluated. Results. 39 of the 53 patients who were operated on had pathologically proven acute appendicitis. CT criteria of appendiceal diameter, presence of periappendiceal inflammation, fluid, appendicolith, and white blood cell (WBC) count were significantly correlated with the inflammation of the appendix. The best cut-off value for appendiceal diameter was 6.5 mm. The correlation between appendiceal diameter and WBC count was 80% (P = 0.01 < 0.05). The correlation between appendiceal diameter and Alvarado score was 78.7% (P = 0.01 < 0.05). Conclusion. Presence of CT criteria of appendiceal diameter above 6.5 mm, periappendiceal inflammation, fluid, and appendicolith should prompt the diagnosis of acute appendicitis. Since patients with acute appendicitis may not always show the typical signs and symptoms, CT is a helpful imaging modality for patients with relatively low Alvarado score and leukocytosis and when physical examination is confusing.

  12. Association between clinical characteristics, computed tomography characteristics, and histologic diagnosis for cats with sinonasal disease.

    PubMed

    Tromblee, Tonya C; Jones, Jeryl C; Etue, Ashley E; Forrester, S Dru

    2006-01-01

    The purpose of this retrospective study was to determine the association between clinical characteristics, computed tomography (CT) characteristics, and histologic diagnosis in 43 cats with sinonasal disease. All cats were evaluated with CT and nasopharyngeal endoscopic examination, with histologic diagnosis based on nasal biopsy. Fifteen cats were diagnosed with sinonasal neoplasia and 28 cats were diagnosed with rhinitis. Clinical characteristics determined to be significantly associated with neoplasia were unilateral ocular discharge (odds ratio [OR] 9.6) and the presence of a nasopharyngeal mass during endoscopic examination (OR 18.9). CT characteristics found to be significantly associated with neoplasia included: unilateral lysis of ethmoturbinates (OR 11.0), unilateral lysis of the dorsal (OR 8.3) and lateral maxilla (OR 6.9), lysis of the vomer bone (OR 6.7) and ventral maxilla (OR 28.8), and bilateral lysis of the orbital lamina (OR 4.1); unilateral abnormal soft tissue/fluid within the sphenoid sinus (OR 15.3), frontal sinus (OR 10.4), and/or and retrobulbar space (OR 12.2). Lysis of the maxillary turbinates, nasal septum, nasal bone, palatine bone, and cribriform plate were not significantly associated with sinonasal neoplasia.

  13. The use of a computed tomography scan to rule out appendicitis in women of childbearing age is as accurate as clinical examination: a prospective randomized trial.

    PubMed

    Lopez, Peter P; Cohn, Stephen M; Popkin, Charles A; Jackowski, Julie; Michalek, Joel E

    2007-12-01

    Diagnosing appendicitis continues to be a difficult task for clinicians. The use of routine CT scan has been advocated to improve the accuracy of diagnosing appendicitis. When compared with the use of clinical examination alone, CT scan was not significantly different with regard to making the diagnosis of appendicitis in women of childbearing age. The use of computed tomography in making the diagnosis of appendicitis has become the current standard of practice in most emergency rooms. In women of childbearing age, with possible appendicitis, we prospectively compared clinical observation alone (OBS) to appendiceal CT scan with clinical observation (CT). Ninety women (OBS: 48, CT: 42) with questionable appendicitis and an Alvarado Score ranging from two to eight were prospectively randomized. A true positive study/exam resulted in a laparotomy that revealed a lesion requiring operation (confirmed by pathology). A true negative exam/study did not require operation. Hospital stay (OBS = 1.9 +/- 1.6 vs CT = 1.3 +/- 1.4 days) and charges (OBS = $9,459 +/- 7,358 vs CT = $9,443 +/- 8,773) were similar. The OBS group had an accuracy of 93 per cent, sensitivity of 100 per cent, and a specificity of 87.5 per cent. The CT group had an accuracy of 93 per cent, sensitivity of 89.5 per cent, and specificity of 95.6 per cent. Although this study is too small to statistically establish equivalence, the data suggest that a CT scan reliably identifies women who need an operation for appendicitis and seems to be as good as clinical examination.

  14. Clinical cancer diagnosis using optical fiber-delivered coherent anti-stokes ramon scattering microscopy

    NASA Astrophysics Data System (ADS)

    Gao, Liang

    This thesis describes the development of a combined label-free imaging and analytical strategy for intraoperative characterization of cancer lesions using the coherent anti-Stokes Raman scattering imaging (CARS) technique. A cell morphology-based analytical platform is developed to characterize CARS images and, hence, provide diagnostic information using disease-related pathology features. This strategy is validated for three different applications, including margin detection for radical prostatectomy, differential diagnosis of lung cancer, as well as detection and differentiation of breast cancer subtypes for in situ analysis of margin status during lumpectomy. As the major contribution of this thesis, the developed analytical strategy shows high accuracy and specificity for all three diseases and thus has introduced the CARS imaging technique into the field of human cancer diagnosis, which holds substantial potential for clinical translations. In addition, I have contributed a project aimed at miniaturizing the CARS imaging device into a microendoscope setup through a fiber-delivery strategy. A four-wave-mixing (FWM) background signal, which is caused by simultaneous delivery of the two CARS-generating excitation laser beams, is initially identified. A polarization-based strategy is then introduced and tested for suppression of this FWM noise. The approach shows effective suppression of the FWM signal, both on microscopic and prototype endoscopic setups, indicating the potential of developing a novel microendoscope with a compatible size for clinical use. These positive results show promise for the development of an all-fiber-based, label-free imaging and analytical platform for minimally invasive detection and diagnosis of cancers during surgery or surgical-biopsy, thus improving surgical outcomes and reducing patients' suffering.

  15. Mixed connective tissue disease: an overview of clinical manifestations, diagnosis and treatment.

    PubMed

    Ortega-Hernandez, Oscar-Danilo; Shoenfeld, Yehuda

    2012-02-01

    The most common clinical manifestations of mixed connective disease are Raynaud's phenomenon, arthralgias, swollen joints, esophageal dysfunction, muscle weakness and fingers sausage-like appearance together with the presence of anti-ribonucleoprotein (RNP) antibodies. However, organ involvement is more extensive than first descriptions reported. The disease can be serious with development of pulmonary, kidney, cardiovascular, gastrointestinal and central nervous system manifestations. The worst prognosis and high mortality are associated with the presence of pulmonary disease. Although a different set of clinical criteria have been proposed, there is no consensus about the most accurate. There is no full agreement about treatment and the initial impression of a satisfactory response to low doses of steroids is not always the rule. Herein, we review available evidence to a better approach to all previous topics.

  16. Amyloid imaging in the differential diagnosis of dementia: review and potential clinical applications

    PubMed Central

    2011-01-01

    In the past decade, positron emission tomography (PET) with carbon-11-labeled Pittsburgh Compound B (PIB) has revolutionized the neuroimaging of aging and dementia by enabling in vivo detection of amyloid plaques, a core pathologic feature of Alzheimer's disease (AD). Studies suggest that PIB-PET is sensitive for AD pathology, can distinguish AD from non-AD dementia (for example, frontotemporal lobar degeneration), and can help determine whether mild cognitive impairment is due to AD. Although the short half-life of the carbon-11 radiolabel has thus far limited the use of PIB to research, a second generation of tracers labeled with fluorine-18 has made it possible for amyloid PET to enter the clinical era. In the present review, we summarize the literature on amyloid imaging in a range of neurodegenerative conditions. We focus on potential clinical applications of amyloid PET and its role in the differential diagnosis of dementia. We suggest that amyloid imaging will be particularly useful in the evaluation of mildly affected, clinically atypical or early age-at-onset patients, and illustrate this with case vignettes from our practice. We emphasize that amyloid imaging should supplement (not replace) a detailed clinical evaluation. We caution against screening asymptomatic individuals, and discuss the limited positive predictive value in older populations. Finally, we review limitations and unresolved questions related to this exciting new technique. PMID:22071129

  17. Clinical diagnosis found in patients with Raynaud's phenomenon: a multicentre study.

    PubMed

    Grassi, W; De Angelis, R; Lapadula, G; Leardini, G; Scarpa, R

    1998-01-01

    A multicentre observational study was conducted in order to detect the major clinical diagnosis found in 761 patients with Raynaud's phenomenon (RP) attending 50 Italian centres for rheumatology and internal medicine. Systemic sclerosis was the most frequent condition associated with secondary RP, occurring in 216 (28.4%) patients. The other most frequent clinical diagnoses included systemic lupus erythematosus (52 cases: 6.8%) and rheumatoid arthritis (38 cases: 5%). Other RP-related diseases (hypertension, Sjögren's syndrome, mixed connective tissue disease, undifferentiated connective tissue disease, fibromyalgia, carpal tunnel syndrome, cryoglobulinemia, dermatopolymyositis, vasculitis, thoracic outlet syndrome, hypothyroidism, diabetes mellitus) occurred in less than 5% of cases. A total of 130 (48%) out of 268 patients with primary RP showed one or more clinical features indicating a fairly high risk of evolving into fully established systemic sclerosis. None of these patients fulfilled the ACR criteria for systemic sclerosis. This study shows that over 50% of patients with RP attending 50 Italian centres for rheumatology and internal medicine had a connective tissue disease. The large number of patients with primary RP and isolated clinical features of connective tissue disease indicates that more efforts should be focused on developing new criteria for the classification of RP.

  18. Porcine circovirus type 2 (PCV2) infections: clinical signs, pathology and laboratory diagnosis.

    PubMed

    Segalés, Joaquim

    2012-03-01

    Clinical signs and pathological features are still the corner-stones to suspect and diagnose overt disease associated with PCV2 infection. The clinico-pathological scope of this viral infection has been expanded over time. From the initial description of postweaning multisystemic wasting syndrome, some enteric, respiratory and reproductive disorders have been subsequently linked with PCV2. Porcine dermatitis and nephropathy syndrome, an immunocomplex disease, has also been associated with infection by this virus. All together, these conditions have been grouped under the name of porcine circovirus diseases (PCVD) or porcine circovirus associated diseases (PCVAD). The precise mechanisms by which a PCV2 infected pig develops a PCV2 subclinical infection or a clinical PCVD/PCVAD are still to be fully elucidated, but inferences based upon clinical, gross and histologic findings from field cases of disease have been useful to suggest the pathogenesis of this viral infection. The objective of the present review is to update the current knowledge on the clinical and pathological scope of PCV2 infections, as well as on their diagnosis. Moreover, a proposal on a unified PCVD/PCVAD terminology and clearly defined diagnostic criteria for these conditions are also given.

  19. A combined biomarker and clinical panel for chronic graft versus host disease diagnosis

    PubMed Central

    Sigdel, Tara K; Wang, Anyou; Hsieh, Sue; Inamoto, Yoshi; Martin, Paul J; Flowers, Mary ED; Hansen, John A; Lee, Stephanie J; Sarwal, Minnie M

    2016-01-01

    Abstract Whilst many chronic graft versus host disease (cGVHD) biomarkers have been previously reported, few have been verified in an independent cGVHD cohort. We aimed to verify the diagnostic accuracy of previously reported markers of cGVHD in a multi‐centre Chronic GVHD Consortium. A total of 42 RNA and 18 protein candidate biomarkers were assessed amongst 59 cGVHD cases and 33 matched non‐GVHD controls. Total RNA was isolated from PBMC, and RNA markers were quantified using PCR. Serum protein markers were quantified using ELISA. A combined 3 RNA biomarker (IRS2, PLEKHF1 and IL1R2) and 2 clinical variables (recipient CMV serostatus and conditioning regimen intensity) panel accurately (AUC 0.81) segregated cGVHD cases from controls. Other studied RNA and protein markers were not confirmed as accurate cGVHD diagnostic biomarkers. The studied markers failed to segregate higher risk cGVHD (per overall NIH 0‐3 score, and overlap versus classic cGVHD status). These data support the need for multiple independent verification studies for the ultimate clinical application of cGVHD diagnostic biomarkers. PMID:28138397

  20. β-human chorionic gonadotropin assay in vaginal washing fluid for the accurate diagnosis of premature rupture of membranes during late pregnancy

    PubMed Central

    Temel, Orhan; Çöğendez, Ebru; Selçuk, Selçuk; Asoğlu, Mehmet Reşit; Kaya, Erdal

    2013-01-01

    Objective To determine whether the measurement of beta-human chorionic gonadotropin (β-hCG) levels in vaginal fluid is useful for the diagnosis of premature rupture of membranes (PROM). Material and Methods A total of 92 pregnant women between 24 and 40 weeks gestation participated in this study. The patients with fluid leaking from the vagina were designated Group 1, the patients with no fluid leaking from the vagina were Group 2, and those with a suspicion of fluid leaking from the vagina were classified as Group 3. Irrigating the posterior vaginal fornix with 5 mL sterile saline was used to measure β-hCG levels of the patients. Receiver operator curve (ROC) analysis was used to determine the cut-off value for a positive diagnosis. Results The β-hCG levels of vaginal fluid were measured as 20.5±25.0 mIU/mL, 254.6±346.8 mIU/mL, and 74.3±100.8 mIU/mL in Group 1, Group 2, and Group 3, respectively. Vaginal β-hCG level was higher statistically significantly in Group 2 than Group 1 and 3 (p<0.001). 100 mIU/mL was accepted as a cut-off value by using the receiver operating characteristic curve. According to 100 mIU/mL, sensitivity, specificity, positive predictive and negative predictive values were calculated as 71.2, 100, 100, and 65.1%, respectively. Conclusion The study showed that the measurement of β-hCG level in vaginal washing fluid is an efficient and easy diagnostic test for predicting the amount of fluid leaking from the vagina. However, due to the low negative predictive value of the test, it would not be convenient in daily practice. PMID:24592106

  1. Diagnosis and treatment of clinically amyopathic dermatomyositis (CADM): a case series and literature review.

    PubMed

    Gil, Bornstein; Merav, Lidar; Pnina, Langevitz; Chagai, Grossman

    2016-08-01

    The objective of this study was to report the clinical course of a cohort of patients with clinically amyopathic dermatomyositis (CADM) in correlation to the presence or absence of anti-melanoma differentiation-associated gene 5 (MDA-5) antibody. Five patients with CADM presented to our rheumatology unit between September 1, 2011 and March 31, 2014. We hereby present their clinical course, laboratory findings, imaging modalities, functional tests, and treatments regimens. Our cohort included five patients, with a mean age of 41.8 ± 17.7. Three patients, all anti-MDA-5 antibody positive, developed rapidly progressive interstitial lung disease (ILD) within 4.3 ± 4.5 months of presentation. Two of these patients succumbed to their disease within 30 months of diagnosis despite intensive immunosuppressive therapy. The third anti-MDA-5-positive patient with ILD is still stable, 20 months from disease onset, on massive combination therapy. One patient developed CADM associated with the anti-p155/140 antibody, a year after completing chemotherapy for non-seminomatous germ cell tumor. He presented with a benign clinical course with no evidence of ILD and no recurrence of malignancy after 20 months of follow-up. The fifth patient in our cohort, who is anti-MDA-5 negative and has no evidence of malignancy, also enjoys a benign clinical course. The presence of anti-MDA-5 antibodies in CADM patients is associated with rapidly progressive ILD and a poor prognosis. The serologic profile of patients with CADM should be routinely evaluated and integrated with clinical data in the management of these patients.

  2. PC-based workstation for global PACS remote consultation and diagnosis in rural clinics

    NASA Astrophysics Data System (ADS)

    Martinez, Ralph; Robles, Saul; Kim, Jinman

    1995-05-01

    Most rural clinics across the country have limited facilities to provide state-of-the-art medical services. The availability of enabling technologies, such as telecommunication networks, multimedia workstations, and telemedicine systems which provide medical services to patients without requiring them to travel from their cities represents a great step in patient care. In previous work, we have developed a distributed software for remote consultation and diagnosis (RCD) in a Global PACS environment over the Internet. The RCD system has been designed and tested on DEC and SUN workstations. In this paper, we present a Unix-PC based platform to implement the RCD over a standard telephone line and Serial Line Internet Protocol (SLIP). The Unix-PC platform offers an inexpensive option for telemedicine workstations in rural clinics, where no Internet is available. If an Internet connection is available at the rural clinic, full RCD multimedia services are possible. The Unix-PC platform has been developed by using Linux, a Unix-like operating system available from several public sites over the Internet. We call the system PC-PACS. The PC-PACS workstation has been tested from different rural sites by connecting the Unix-PC system to the Internet through SLIP. Once the system is connected, RCD sessions have been performed between the Unix- PC platform and SUN workstations. The tests have included diagnosis on radiology and pathology images. A separate telephone line for voice communications during the RCD session is required. This paper describes performance tests for the PC-based workstation and the RCD system over SLIP and Ethernet interfaces. Results show acceptable performance of the workstation and the RCD software.

  3. Diagnosis of paediatric HIV infection in a primary health care setting with a clinical algorithm.

    PubMed Central

    Horwood, C.; Liebeschuetz, S.; Blaauw, D.; Cassol, S.; Qazi, S.

    2003-01-01

    OBJECTIVE: To determine the validity of an algorithm used by primary care health workers to identify children with symptomatic human immunodeficiency virus (HIV) infection. This HIV algorithm is being implemented in South Africa as part of the Integrated Management of Childhood Illness (IMCI), a strategy that aims to improve childhood morbidity and mortality by improving care at the primary care level. As AIDS is a leading cause of death in children in southern Africa, diagnosis and management of symptomatic HIV infection was added to the existing IMCI algorithm. METHODS: In total, 690 children who attended the outpatients department in a district hospital in South Africa were assessed with the HIV algorithm and by a paediatrician. All children were then tested for HIV viral load. The validity of the algorithm in detecting symptomatic HIV was compared with clinical diagnosis by a paediatrician and the result of an HIV test. Detailed clinical data were used to improve the algorithm. FINDINGS: Overall, 198 (28.7%) enrolled children were infected with HIV. The paediatrician correctly identified 142 (71.7%) children infected with HIV, whereas the IMCI/HIV algorithm identified 111 (56.1%). Odds ratios were calculated to identify predictors of HIV infection and used to develop an improved HIV algorithm that is 67.2% sensitive and 81.5% specific in clinically detecting HIV infection. CONCLUSIONS: Children with symptomatic HIV infection can be identified effectively by primary level health workers through the use of an algorithm. The improved HIV algorithm developed in this study could be used by countries with high prevalences of HIV to enable IMCI practitioners to identify and care for HIV-infected children. PMID:14997238

  4. Cutaneous Leishmaniasis in Khyber Pakhtunkhwa Province of Pakistan: Clinical Diversity and Species-Level Diagnosis

    PubMed Central

    Khan, Nazma Habib; Bari, Arfan ul; Hashim, Rizwan; Khan, Inamullah; Muneer, Akhtar; Shah, Akram; Wahid, Sobia; Yardley, Vanessa; O'Neil, Brighid; Sutherland, Colin J.

    2016-01-01

    This study primarily aimed to identify the causative species of cutaneous leishmaniasis (CL) in the Khyber Pakhtunkhwa Province of Pakistan and to distinguish any species-specific variation in clinical manifestation of CL. Diagnostic performance of different techniques for identifying CL was assessed. Isolates of Leishmania spp. were detected by in vitro culture, polymerase chain reaction (PCR) on DNA extracted from dried filter papers and microscopic examination of direct lesion smears from patients visiting three major primary care hospitals in Peshawar. A total of 125 CL patients were evaluated. Many acquired the disease from Peshawar and the neighboring tribal area of Khyber Agency. Military personnel acquired CL while deployed in north and south Waziristan. Leishmania tropica was identified as the predominant infecting organism in this study (89.2%) followed by Leishmania major (6.8%) and, unexpectedly, Leishmania infantum (4.1%). These were the first reported cases of CL caused by L. infantum in Pakistan. PCR diagnosis targeting kinetoplast DNA was the most sensitive diagnostic method, identifying 86.5% of all samples found positive by any other method. Other methods were as follows: ribosomal DNA PCR (78.4%), internal transcribed spacer 2 region PCR (70.3%), culture (67.1%), and microscopy (60.5%). Clinical examination reported 14 atypical forms of CL. Atypical lesions were not significantly associated with the infecting Leishmania species, nor with “dry” or “wet” appearance of lesions. Findings from this study provide a platform for species typing of CL patients in Pakistan, utilizing a combination of in vitro culture and molecular diagnostics. Moreover, the clinical diversity described herein can benefit clinicians in devising differential diagnosis of the disease. PMID:27601518

  5. Relevance of nucleic acid amplification techniques for diagnosis of respiratory tract infections in the clinical laboratory.

    PubMed Central

    Ieven, M; Goossens, H

    1997-01-01

    Clinical laboratories are increasingly receiving requests to perform nucleic acid amplification tests for the detection of a wide variety of infectious agents. In this paper, the efficiency of nucleic acid amplification techniques for the diagnosis of respiratory tract infections is reviewed. In general, these techniques should be applied only for the detection of microorganisms for which available diagnostic techniques are markedly insensitive or nonexistent or when turnaround times for existing tests (e.g., viral culture) are much longer than those expected with amplification. This is the case for rhinoviruses, coronaviruses, and hantaviruses causing a pulmonary syndrome, Bordetella pertussis, Chlamydia pneumoniae, Mycoplasma pneumoniae, and Coxiella burnetii. For Legionella spp. and fungi, contamination originating from the environment is a limiting factor in interpretation of results, as is the difficulty in differentiating colonization and infection. Detection of these agents in urine or blood by amplification techniques remains to be evaluated. In the clinical setting, there is no need for molecular diagnostic tests for the diagnosis of Pneumocystis carinii. At present, amplification methods for Mycobacterium tuberculosis cannot replace the classical diagnostic techniques, due to their lack of sensitivity and the absence of specific internal controls for the detection of inhibitors of the reaction. Also, the results of interlaboratory comparisons are unsatisfactory. Furthermore, isolates are needed for susceptibility studies. Additional work remains to be done on sample preparation methods, comparison between different amplification methods, and analysis of results. The techniques can be useful for the rapid identification of M. tuberculosis in particular circumstances, as well as the rapid detection of most rifampin-resistant isolates. The introduction of diagnostic amplification techniques into a clinical laboratory implies a level of proficiency for

  6. Real-time Raman spectroscopy for in vivo, online gastric cancer diagnosis during clinical endoscopic examination

    NASA Astrophysics Data System (ADS)

    Duraipandian, Shiyamala; Sylvest Bergholt, Mads; Zheng, Wei; Yu Ho, Khek; Teh, Ming; Guan Yeoh, Khay; Bok Yan So, Jimmy; Shabbir, Asim; Huang, Zhiwei

    2012-08-01

    Optical spectroscopic techniques including reflectance, fluorescence and Raman spectroscopy have shown promising potential for in vivo precancer and cancer diagnostics in a variety of organs. However, data-analysis has mostly been limited to post-processing and off-line algorithm development. In this work, we develop a fully automated on-line Raman spectral diagnostics framework integrated with a multimodal image-guided Raman technique for real-time in vivo cancer detection at endoscopy. A total of 2748 in vivo gastric tissue spectra (2465 normal and 283 cancer) were acquired from 305 patients recruited to construct a spectral database for diagnostic algorithms development. The novel diagnostic scheme developed implements on-line preprocessing, outlier detection based on principal component analysis statistics (i.e., Hotelling's T2 and Q-residuals) for tissue Raman spectra verification as well as for organ specific probabilistic diagnostics using different diagnostic algorithms. Free-running optical diagnosis and processing time of < 0.5 s can be achieved, which is critical to realizing real-time in vivo tissue diagnostics during clinical endoscopic examination. The optimized partial least squares-discriminant analysis (PLS-DA) models based on the randomly resampled training database (80% for learning and 20% for testing) provide the diagnostic accuracy of 85.6% [95% confidence interval (CI): 82.9% to 88.2%] [sensitivity of 80.5% (95% CI: 71.4% to 89.6%) and specificity of 86.2% (95% CI: 83.6% to 88.7%)] for the detection of gastric cancer. The PLS-DA algorithms are further applied prospectively on 10 gastric patients at gastroscopy, achieving the predictive accuracy of 80.0% (60/75) [sensitivity of 90.0% (27/30) and specificity of 73.3% (33/45)] for in vivo diagnosis of gastric cancer. The receiver operating characteristics curves further confirmed the efficacy of Raman endoscopy together with PLS-DA algorithms for in vivo prospective diagnosis of gastric cancer

  7. A prospective study of neuropathic pain induced by thoracotomy: incidence, clinical description, and diagnosis.

    PubMed

    Guastella, Virginie; Mick, Gérard; Soriano, Christophe; Vallet, Laurent; Escande, Georges; Dubray, Claude; Eschalier, Alain

    2011-01-01

    This study evaluated prospectively the incidence of neuropathic pain after thoracotomy, described its clinical characteristics, and delineated landmarks for its diagnosis in daily practice. We evaluated clinically painful symptoms and sensory deficits in 54 patients after lateral/posterolateral thoracotomy for broncho-pulmonary carcinoma with standardized surgical and analgesic procedures. At 2months, 49 patients suffered from non malignant thoracic pain, and at 6months 38 patients (loss to follow-up for 7) reported persisting pain. In 35 patients, painful symptoms and sensory deficits could be evaluated using a standardized clinical bedside procedure. According to the grading system proposed by Treede et al. [41], neuropathic pain was considered probable in 21 patients, while use of the DN4 questionnaire concluded that neuropathic pain was probable in 17 patients. The two diagnostic procedures provided similar conclusions in 16 patients. Morphine consumption during the early post-operative period (mean 111.3±30.8mg/day) and pain intensity (VAS: mean 5.71±2.1) were significantly higher in patients suffering from neuropathic pain than in other patients with pain (mean 80±21.4mg/day; VAS: mean 3.9±2.4). The clinical picture in most patients with neuropathic pain included electric shocks and severe multimodal hypoesthesia in the sensory area of 5th/6th intercostal nerves. Thus, our results indicate a minimal incidence of chronic post-thoracotomy pain at 70% and that of neuropathic pain at 29%, this latter being clinically suggested by a combination of certain symptoms and reinforced by the DN4 questionnaire when sensory deficit at scar is present.

  8. Sequencer-Based Capillary Gel Electrophoresis (SCGE) Targeting the rDNA Internal Transcribed Spacer (ITS) Regions for Accurate Identification of Clinically Important Yeast Species

    PubMed Central

    Chen, Sharon C.-A.; Wang, He; Zhang, Li; Fan, Xin; Xu, Zhi-Peng; Cheng, Jing-Wei; Kong, Fanrong; Zhao, Yu-Pei; Xu, Ying-Chun

    2016-01-01

    Accurate species identification of Candida, Cryptococcus, Trichosporon and other yeast pathogens is important for clinical management. In the present study, we developed and evaluated a yeast species identification scheme by determining the rDNA internal transcribed spacer (ITS) region length types (LTs) using a sequencer-based capillary gel electrophoresis (SCGE) approach. A total of 156 yeast isolates encompassing 32 species were first used to establish a reference SCGE ITS LT database. Evaluation of the ITS LT database was then performed on (i) a separate set of (n = 97) clinical isolates by SCGE, and (ii) 41 isolates of 41 additional yeast species from GenBank by in silico analysis. Of 156 isolates used to build the reference database, 41 ITS LTs were identified, which correctly identified 29 of the 32 (90.6%) species, with the exception of Trichosporon asahii, Trichosporon japonicum and Trichosporon asteroides. In addition, eight of the 32 species revealed different electropherograms and were subtyped into 2–3 different ITS LTs each. Of the 97 test isolates used to evaluate the ITS LT scheme, 96 (99.0%) were correctly identified to species level, with the remaining isolate having a novel ITS LT. Of the additional 41 isolates for in silico analysis, none was misidentified by the ITS LT database except for Trichosporon mucoides whose ITS LT profile was identical to that of Trichosporon dermatis. In conclusion, yeast identification by the present SCGE ITS LT assay is a fast, reproducible and accurate alternative for the identification of clinically important yeasts with the exception of Trichosporon species. PMID:27105313

  9. SNP-array based whole genome homozygosity mapping: a quick and powerful tool to achieve an accurate diagnosis in LGMD2 patients.

    PubMed

    Papić, Lea; Fischer, Dirk; Trajanoski, Slave; Höftberger, Romana; Fischer, Carina; Ströbel, Thomas; Schmidt, Wolfgang M; Bittner, Reginald E; Schabhüttl, Maria; Gruber, Karin; Pieber, Thomas R; Janecke, Andreas R; Auer-Grumbach, Michaela

    2011-01-01

    A large number of novel disease genes have been identified by homozygosity mapping and the positional candidate approach. In this study we used single nucleotide polymorphism (SNP) array-based, whole genome homozygosity mapping as the first step to a molecular diagnosis in the highly heterogeneous muscle disease, limb girdle muscular dystrophy (LGMD). In a consanguineous family, both affected siblings showed homozygous blocks on chromosome 15 corresponding to the LGMD2A locus. Direct sequencing of CAPN3, encoding calpain-3, identified a homozygous deletion c.483delG (p.Ile162SerfsX17). In a sporadic LGMD patient complete absence of caveolin-3 on Western blot was observed. However, a mutation in CAV3 could not be detected. Homozygosity mapping revealed a large homozygous block at the LGMD2I locus, and direct sequencing of FKRP encoding fukutin-related-protein detected the common homozygous c.826 C>A (p.Leu276Ile) mutation. Subsequent re-examination of this patient's muscle biopsy showed aberrant α-dystroglycan glycosylation. In summary, we show that whole-genome homozygosity mapping using low cost SNP arrays provides a fast and non-invasive method to identify disease-causing mutations in sporadic patients or sibs from consanguineous families in LGMD2. Furthermore, this is the first study describing that in addition to PTRF, encoding polymerase I and transcript release factor, FKRP mutations may cause secondary caveolin-3 deficiency.

  10. Psychiatric comorbidity in young adults with a clinical diagnosis of Asperger syndrome.

    PubMed

    Lugnegård, Tove; Hallerbäck, Maria Unenge; Gillberg, Christopher

    2011-01-01

    In children with autism spectrum disorders, previous studies have shown high rates of psychiatric comorbidity. To date, studies on adults have been scarce. The aim of the present study was to investigate psychiatric comorbidity in young adults with Asperger syndrome. Participants were 26 men and 28 women (mean age 27 years) with a clinical diagnosis of Asperger syndrome. Psychiatric comorbidity was assessed by the Structured Clinical Interview for DSM-IV Axis I Disorders. IQ was measured using the Wechsler Adult Intelligence Scale, Third Edition. Autism spectrum diagnoses were confirmed using the DIagnostic Interview for Social and Communication Disorders. In our study group, 70% had experienced at least one episode of major depression, and 50% had suffered from recurrent depressive episodes. Anxiety disorders were seen in about 50%. Psychotic disorders and substance-induced disorders were uncommon. In conclusion, young adults with autism spectrum disorders are at high risk for mood and anxiety disorders. To identify these conditions and offer treatment, elevated vigilance is needed in clinical practice.

  11. Comparison of manual and automated nucleic acid extraction methods from clinical specimens for microbial diagnosis purposes.

    PubMed

    Wozniak, Aniela; Geoffroy, Enrique; Miranda, Carolina; Castillo, Claudia; Sanhueza, Francia; García, Patricia

    2016-11-01

    The choice of nucleic acids (NAs) extraction method for molecular diagnosis in microbiology is of major importance because of the low microbial load, different nature of microorganisms, and clinical specimens. The NA yield of different extraction methods has been mostly studied using spiked samples. However, information from real human clinical specimens is scarce. The purpose of this study was to compare the performance of a manual low-cost extraction method (Qiagen kit or salting-out extraction method) with the automated high-cost MagNAPure Compact method. According to cycle threshold values for different pathogens, MagNAPure is as efficient as Qiagen for NA extraction from noncomplex clinical specimens (nasopharyngeal swab, skin swab, plasma, respiratory specimens). In contrast, according to cycle threshold values for RNAseP, MagNAPure method may not be an appropriate method for NA extraction from blood. We believe that MagNAPure versatility reduced risk of cross-contamination and reduced hands-on time compensates its high cost.

  12. Tuberculosis in ageing: high rates, complex diagnosis and poor clinical outcomes

    PubMed Central

    Cruz-Hervert, Luis Pablo; García-García, Lourdes; Ferreyra-Reyes, Leticia; Bobadilla-del-Valle, Miriam; Cano-Arellano, Bulmaro; Canizales-Quintero, Sergio; Ferreira-Guerrero, Elizabeth; Báez-Saldaña, Renata; Téllez-Vázquez, Norma; Nava-Mercado, Ariadna; Juárez-Sandino, Luis; Delgado-Sánchez, Guadalupe; Fuentes-Leyra, César Alejandro; Montero-Campos, Rogelio; Martínez-Gamboa, Rosa Areli; Small, Peter M.; Sifuentes-Osornio, José; Ponce-de-León, Alfredo

    2012-01-01

    Background: worldwide, the frequency of tuberculosis among older people almost triples that observed among young adults. Objective: to describe clinical and epidemiological consequences of pulmonary tuberculosis among older people. Methods: we screened persons with a cough lasting more than 2 weeks in Southern Mexico from March 1995 to February 2007. We collected clinical and mycobacteriological information (isolation, identification, drug-susceptibility testing and IS6110-based genotyping and spoligotyping) from individuals with bacteriologically confirmed pulmonary tuberculosis. Patients were treated in accordance with official norms and followed to ascertain treatment outcomes, retreatment, and vital status. Results: eight hundred ninety-three tuberculosis patients were older than 15 years of age; of these, 147 (16.5%) were 65 years of age or older. Individuals ≥65 years had significantly higher rates of recently transmitted and reactivated tuberculosis. Older age was associated with treatment failure (OR = 5.37; 95% CI: 1.06–27.23; P = 0.042), and death due to tuberculosis (HR = 3.52; 95% CI: 1.78–6.96; P < 0.001) adjusting for sociodemographic and clinical variables. Conclusions: community-dwelling older individuals participate in chains of transmission indicating that tuberculosis is not solely due to the reactivation of latent disease. Untimely and difficult diagnosis and a higher risk of poor outcomes even after treatment completion emphasise the need for specific strategies for this vulnerable group. PMID:22431155

  13. The clinical utility of basophil activation testing in diagnosis and monitoring of allergic disease.

    PubMed

    Hoffmann, H J; Santos, A F; Mayorga, C; Nopp, A; Eberlein, B; Ferrer, M; Rouzaire, P; Ebo, D G; Sabato, V; Sanz, M L; Pecaric-Petkovic, T; Patil, S U; Hausmann, O V; Shreffler, W G; Korosec, P; Knol, E F

    2015-11-01

    The basophil activation test (BAT) has become a pervasive test for allergic response through the development of flow cytometry, discovery of activation markers such as CD63 and unique markers identifying basophil granulocytes. Basophil activation test measures basophil response to allergen cross-linking IgE on between 150 and 2000 basophil granulocytes in <0.1 ml fresh blood. Dichotomous activation is assessed as the fraction of reacting basophils. In addition to clinical history, skin prick test, and specific IgE determination, BAT can be a part of the diagnostic evaluation of patients with food-, insect venom-, and drug allergy and chronic urticaria. It may be helpful in determining the clinically relevant allergen. Basophil sensitivity may be used to monitor patients on allergen immunotherapy, anti-IgE treatment or in the natural resolution of allergy. Basophil activation test may use fewer resources and be more reproducible than challenge testing. As it is less stressful for the patient and avoids severe allergic reactions, BAT ought to precede challenge testing. An important next step is to standardize BAT and make it available in diagnostic laboratories. The nature of basophil activation as an ex vivo challenge makes it a multifaceted and promising tool for the allergist. In this EAACI task force position paper, we provide an overview of the practical and technical details as well as the clinical utility of BAT in diagnosis and management of allergic diseases.

  14. Disease activity in Graves' ophthalmopathy: diagnosis with orbital MR imaging and correlation with clinical score.

    PubMed

    Tortora, Fabio; Cirillo, Mario; Ferrara, Marco; Belfiore, Maria Paola; Carella, Carlo; Caranci, Ferdinando; Cirillo, Sossio

    2013-10-01

    In Graves' ophthalmopathy (GO) it is important to distinguish acute inflammation at an early stage, responsive to immunosuppressive treatment, from inactive fibrotic end stage disease, unresponsive to the same treatment. The purpose of this study was to identify the most relevant signal intensities on orbital MR imaging with contrast administration both to classify patients according to their clinical activity score (defined by a cut-off value of 3) and to make a prediction of patient's CAS. Such threshold was considered as widely used in literature. Sixteen consecutive patients with a diagnosis of GO in different phases of thyroid disease based on clinical and orbital MR imaging signs, and six normal volunteers were examined. Orbital MR imaging was performed on a 1.5 Tesla MR Unit. MR scans were assessed by an experienced neuroradiologist, blinded to the clinical examinations. We found a statistical correlation between CAS and both STIR and contrast enhanced T1-weighted sequences. There was also a statistically significant correlation between STIR and contrast-enhanced T1 images disclosing the possibility of avoiding the injection of contrast medium. Our study proved that signal intensity values on STIR sequence increase in the inflammatory oedematous phase of disease. We confirmed the correlation between signal intensities on this sequence and CAS, showing an increase in signal intensity proportional to the CAS value. So we validated MRI use to establish the activity phase of disease more sensitively than CAS alone.

  15. Diabetes mellitus in neonates and infants: genetic heterogeneity, clinical approach to diagnosis, and therapeutic options.

    PubMed

    Rubio-Cabezas, Oscar; Ellard, Sian

    2013-01-01

    Over the last decade, we have witnessed major advances in the understanding of the molecular basis of neonatal and infancy-onset diabetes. It is now widely accepted that diabetes presenting before 6 months of age is unlikely to be autoimmune type 1 diabetes. The vast majority of such patients will have a monogenic disorder responsible for the disease and, in some of them, also for a number of other associated extrapancreatic clinical features. Reaching a molecular diagnosis will have immediate clinical consequences for about half of affected patients, as identification of a mutation in either of the two genes encoding the ATP-sensitive potassium channel allows switching from insulin injections to oral sulphonylureas. It also facilitates genetic counselling within the affected families and predicts clinical prognosis. Importantly, monogenic diabetes seems not to be limited to the first 6 months but extends to some extent into the second half of the first year of life, when type 1 diabetes is the more common cause of diabetes. From a scientific perspective, the identification of novel genetic aetiologies has provided important new knowledge regarding the development and function of the human pancreas.

  16. Brainstem tegmental lesions in neonates with hypoxic-ischemic encephalopathy: Magnetic resonance diagnosis and clinical outcome

    PubMed Central

    Quattrocchi, Carlo Cosimo; Fariello, Giuseppe; Longo, Daniela

    2016-01-01

    Lesions of the brainstem have been reported in the clinical scenarios of hypoxic-ischemic encephalopathy (HIE), although the prevalence of these lesions is probably underestimated. Neuropathologic studies have demonstrated brainstem involvement in severely asphyxiated infants as an indicator of poor outcome. Among survivors to HIE, the most frequent clinical complaints that may be predicted by brainstem lesions include feeding problems, speech, language and communication problems and visual impairments. Clinical series, including vascular and metabolic etiologies, have found selective involvement of the brainstem with the demonstration of symmetric bilateral columnar lesions of the tegmentum. The role of brainstem lesions in HIE is currently a matter of debate, especially when tegmental lesions are present in the absence of supra-tentorial lesions. Differential diagnosis of tegmental lesions in neonates and infants include congenital metabolic syndromes and drug-related processes. Brainstem injury with the presence of supratentorial lesions is a predictor of poor outcome and high rates of mortality and morbidity. Further investigation will be conducted to identify specific sites of the brainstem that are vulnerable to hypoxic-ischemic and toxic-metabolic insults. PMID:26981220

  17. Prolonged elevation of serum neuron-specific enolase in children after clinical diagnosis of brain death.

    PubMed

    Suzuki, Yasuhiro; Mogami, Yukiko; Toribe, Yausihisa; Yamada, Keitaro; Yanagihara, Keiko; Hirata, Ikuko; Mano, Toshiyuki

    2012-01-01

    To elucidate the time course of neuronal cell death after the clinical criteria for brain death are met, the authors reviewed serial changes of serum neuron-specific enolase levels in 3 children (age range, 3-15 years) clinically diagnosed as brain dead due to cardiopulmonary arrest. All patients survived for more than 2 months after brain death. Children with brain death had higher peak neuron-specific enolase values (1069-2849 ng/mL) than did 3 control children (256-1800 ng/mL) who did not become brain dead but had poor neurological outcome (1 death, 2 vegetative state) after cardiopulmonary arrest. A major finding is that children with brain death showed persistent elevation of neuron-specific enolase at 4 weeks (>400 ng/mL) and 8 weeks (>50 ng/mL) after cardiopulmonary arrest, in comparison with 2 surviving patients without brain death (<50 ng/mL at 4 weeks). This prolonged elevation of neuron-specific enolase suggests that total brain necrosis might not be present at the time of clinical diagnosis of brain death.

  18. Clinical prediction and diagnosis of neurosyphilis in HIV-infected patients with early Syphilis.

    PubMed

    Dumaresq, Jeannot; Langevin, Stéphanie; Gagnon, Simon; Serhir, Bouchra; Deligne, Benoît; Tremblay, Cécile; Tsang, Raymond S W; Fortin, Claude; Coutlée, François; Roger, Michel

    2013-12-01

    The diagnosis of neurosyphilis (NS) is a challenge, especially in HIV-infected patients, and the criteria for deciding when to perform a lumbar puncture (LP) in HIV-infected patients with syphilis are controversial. We retrospectively reviewed demographic, clinical, and laboratory data from 122 cases of HIV-infected patients with documented early syphilis who underwent an LP to rule out NS, and we evaluated 3 laboratory-developed validated real-time PCR assays, the Treponema pallidum particle agglutination (TPPA) assay, the fluorescent treponemal antibody absorption (FTA-ABS) assay, and the line immunoassay INNO-LIA Syphilis, for the diagnosis of NS from cerebrospinal fluid (CSF) samples of these patients. NS was defined by a reactive CSF-VDRL test result and/or a CSF white blood cell (WBC) count of >20 cells/μl. Thirty of the 122 patients (24.6%) had early NS. Headache, visual symptoms, a CD4 cell count of <500 cells/μl, and viremia, as defined by an HIV-1 RNA count of ≥50 copies/ml, were associated with NS in multivariate analysis (P = <0.001 for each factor). Blood serum rapid plasma reagin (RPR) titers were not associated with early NS (P = 0.575). For the diagnosis of NS, the PCR, FTA-ABS, TPPA, and INNO-LIA assays had sensitivities of 58%, 100%, 68%, and 100%, specificities of 67%, 12%, 49%, and 13%, and negative predictive values of 85%, 100%, 84%, and 100%, respectively. Visual disturbances, headache, uncontrolled HIV-1 viremia, and a CD4 cell count of <500 cells/μl were predictors of NS in HIV-infected patients with early syphilis, while blood serum RPR titers were not; therefore, RPR titers should not be used as the sole criterion for deciding whether to perform an LP in early syphilis. When applied to CSF samples, the INNO-LIA Syphilis assay easily helped rule out NS.

  19. Clinical value of serum HMGB1 in diagnosis and prognosis of laryngeal squamous cell carcinoma.

    PubMed

    Qiu, Guangbin; Li, Yunhui; Liu, Zheng; Wang, Mengran; Ge, Jingjing; Bai, Xiaozhong

    2014-12-01

    Laryngeal squamous cell carcinoma (LSCC) is one of the most common malignancies in the head and neck region. Recently, aberrantly expressed high-mobility group box 1 (HMGB1) has received a great deal of attention as a potential biomarker for cancer diagnosis and prognosis. Therefore, the aim of this study was to estimate HMGB1 levels in serum in LSCC patients and healthy controls and evaluated the potential of serum HMGB1 as a noninvasive biomarker for diagnosis and prognosis in LSCC. Serum HMGB1 levels were analyzed in 71 LSCC patients and 50 healthy controls. The serum HMGB1 level was significantly higher in LSCC patients compared with the healthy controls (4.81 ± 2.33 vs. 3.21 ± 1.08 ng/mL, P < 0.001). High serum HMGB1 was significantly associated with T classification (P = 0.005), N classification (P = 0.002), and clinical stage (P = 0.001). The area under ROC curve was 0.716, and the sensitivity and specificity were 42.3 and 92.0%, respectively. The Kaplan-Meier plots showed that patients with high serum HMGB1 had a poorer overall survival than those with low serum HMGB1 (P = 0.036). Serum HMGB1 levels are significantly associated with the progression of LSCC. In this population, HMGB1 has a poor sensitivity, but a high specificity for the diagnosis of LSCC. Serum HMGB1 level has potential as a biomarker for the prognosis in LSCC patients.

  20. Value of neuropsychological testing, imaging, and CSF biomarkers for the differential diagnosis and prognosis of clinically ambiguous dementia.

    PubMed

    Boutoleau-Bretonnière, Claire; Lebouvier, Thibaud; Delaroche, Odile; Lamy, Estelle; Evrard, Christelle; Charriau, Tiphaine; Bretonnière, Cédric; Damier, Philippe; Derkinderen, Pascal; Vercelletto, Martine

    2012-01-01

    The objective of this study was to examine the diagnostic accuracy of imaging and CSF biomarkers in clinically ambiguous dementia (CAD). 69 patients were prospectively followed. The endpoint was clinical diagnosis at follow-up of 24 months based upon existing criteria. Medial temporal lobe atrophy score on MRI, distinctive patterns on 99 mTc-HMPAO-SPECT, and CSF levels of amyloid-β peptide, total tau protein, and P-tau181P were used together with neuropsychological testing to assess Se (sensitivity) and Sp (specificity) of separate and combined markers. 60 patients reached the endpoint. A definite diagnosis was achieved in 48 patients. CSF biomarkers had a Sp of 71% and a Se of 100% for Alzheimer's disease (AD) diagnosis. Sp increased to 88% and 93% when MRI and MRI + SPECT were combined, at the expense of Se. CSF biomarkers levels also provided clues to frontotemporal (FTD) or vascular dementias (VaD) diagnosis when situated in an intermediate range between normal and pathological values. MRI and SPECT contributed mostly to the diagnosis of VaD (Se 88%, Sp 75%) and FTD (Se 73%, Sp 78%), respectively. Initial neuropsychological testing had a poor diagnostic accuracy, except for a neuropsychiatric inventory score >40 for the diagnosis of FTD (Se 73%, Sp 84%). Independent of the clinical diagnosis, medial temporal lobe atrophy and total-tau were best correlated with cognitive decline at 2 years. In conclusion, CSF biomarkers efficiently predict evolution toward an AD phenotype in CAD. Imaging biomarkers mostly contribute to the differential diagnosis between non-AD dementias. Initial neuropsychological testing was poorly contributive in CAD diagnosis.

  1. Diagnosis and treatment of spontaneous coronary artery pseudoaneurysm: Rare anomaly with potentially significant clinical implications.

    PubMed

    Kar, Subrata; Webel, Richard R

    2017-03-04

    Spontaneous coronary artery pseudoaneurysm (PSA, false aneurysm) is an extremely rare occurrence with the precise incidence unknown. It is defined as an outwardly bulging monolayer or double layer within the coronary artery that lacks all 3 layers (intima, media, and adventitia) of the arterial wall. Coronary PSA commonly occurs from arterial dissection or perforation induced by catheter intervention, infection, pregnancy, or trauma. Traumatic dissection or perforation of the coronary artery after a percutaneous coronary intervention (PCI) remains the most common cause. Such cases may progress to myocardial ischemia, acute myocardial infarction, or acute coronary artery rupture causing death from cardiac tamponade. Intravascular ultrasound or cardiac computed tomography may aid in the diagnosis. Treatment options include PCI with a covered stent, bare or drug-eluting stent, coil embolization, coronary artery bypass graft with isolation of the PSA, or conservative management with vigilant clinical follow-up. In this review, we sought to describe the diagnosis, etiology, treatment, and the limited literature on spontaneous coronary artery PSA. © 2017 Wiley Periodicals, Inc.

  2. Validation of Administrative Osteoarthritis Diagnosis Using a Clinical and Radiological Population-Based Cohort

    PubMed Central

    Anis, Aslam H.; Cibere, Jolanda

    2016-01-01

    Objectives. The validity of administrative osteoarthritis (OA) diagnosis in British Columbia, Canada, was examined against X-rays, magnetic resonance imaging (MRI), self-report, and the American College of Rheumatology criteria. Methods. During 2002–2005, 171 randomly selected subjects with knee pain aged 40–79 years underwent clinical assessment for OA in the knee, hip, and hands. Their administrative health records were linked during 1991–2004, in which OA was defined in two ways: (AOA1) at least one physician's diagnosis or hospital admission and (AOA2) at least two physician's diagnoses in two years or one hospital admission. Sensitivity, specificity, and predictive values were compared using four reference standards. Results. The mean age was 59 years and 51% were men. The proportion of OA varied from 56.3 to 89.7% among men and 77.4 to 96.4% among women according to reference standards. Sensitivity and specificity varied from 21 to 57% and 75 to 100%, respectively, and PPVs varied from 82 to 100%. For MRI assessment, the PPV of AOA2 was 100%. Higher sensitivity was observed in AOA1 than AOA2 and the reverse was true for specificity and PPV. Conclusions. The validity of administrative OA in British Columbia varied due to case definitions and reference standards. AOA2 is more suitable for identifying OA cases for research using this Canadian database. PMID:28127309

  3. Diagnosis and management of congenital adrenal hyperplasia: clinical, molecular and prenatal aspects.

    PubMed

    Mathur, R; Kabra, M; Menon, P S

    2001-01-01

    Congenital adrenal hyperplasia (CAH) is the most common cause of female pseudohermaphroditism in Indian children. It is caused by enzymatic defects in the steroidogenic pathway of the adrenal glands and is characterized by impaired cortisol and aldosterone synthesis and overproduction of androgens. The disease usually presents with life-threatening problems and virilization, with long term physical and psychological effects. The clinical and laboratory diagnoses play an important role in deciding the course of treatment, which continues lifelong. To ensure proper growth and development of the patient, optimized disease management and treatment with steroids is required. Often the patient also requires surgical correction. Recent developments in molecular genetics have greatly helped in understanding the pathogenesis of the disease. The gene encoding for steroid 21-hydroxylase, CYP21, is located on the short arm of chromosome 6 in the HLA region and is amplified for genetic diagnosis. Rapid characterization of point mutations is possible using the allele-specific polymerase chain reaction technique in affected children. Counselling, prenatal diagnosis and treatment are recommended in all pregnant women with a positive family history to reduce or eliminate the effects in affected foetuses. This spares the female newborn the consequences of genital ambiguity and problems of gender identity.

  4. International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up.

    PubMed

    Welling, Lindsey; Bernstein, Laurie E; Berry, Gerard T; Burlina, Alberto B; Eyskens, François; Gautschi, Matthias; Grünewald, Stephanie; Gubbels, Cynthia S; Knerr, Ina; Labrune, Philippe; van der Lee, Johanna H; MacDonald, Anita; Murphy, Elaine; Portnoi, Pat A; Õunap, Katrin; Potter, Nancy L; Rubio-Gozalbo, M Estela; Spencer, Jessica B; Timmers, Inge; Treacy, Eileen P; Van Calcar, Sandra C; Waisbren, Susan E; Bosch, Annet M

    2017-03-01

    Classical galactosemia (CG) is an inborn error of galactose metabolism. Evidence-based guidelines for the treatment and follow-up of CG are currently lacking, and treatment and follow-up have been demonstrated to vary worldwide. To provide patients around the world the same state-of-the-art in care, members of The Galactosemia Network (GalNet) developed an evidence-based and internationally applicable guideline for the diagnosis, treatment, and follow-up of CG. The guideline was developed using the Grading of Recommendations Assessment, Development, and Evaluation (GRADE) system. A systematic review of the literature was performed, after key questions were formulated during an initial GalNet meeting. The first author and one of the working group experts conducted data-extraction. All experts were involved in data-extraction. Quality of the body of evidence was evaluated and recommendations were formulated. Whenever possible recommendations were evidence-based, if not they were based on expert opinion. Consensus was reached by multiple conference calls, consensus rounds via e-mail and a final consensus meeting. Recommendations addressing diagnosis, dietary treatment, biochemical monitoring, and follow-up of clinical complications were formulated. For all recommendations but one, full consensus was reached. A 93 % consensus was reached on the recommendation addressing age at start of bone density screening. During the development of this guideline, gaps of knowledge were identified in most fields of interest, foremost in the fields of treatment and follow-up.

  5. Rare hereditary red blood cell enzymopathies associated with hemolytic anemia - pathophysiology, clinical aspects, and laboratory diagnosis.

    PubMed

    Koralkova, P; van Solinge, W W; van Wijk, R

    2014-06-01

    Hereditary red blood cell enzymopathies are genetic disorders affecting genes encoding red blood cell enzymes. They cause a specific type of anemia designated hereditary nonspherocytic hemolytic anemia (HNSHA). Enzymopathies affect cellular metabolism, which, in the red cell, mainly consists of anaerobic glycolysis, the hexose monophosphate shunt, glutathione metabolism, and nucleotide metabolism. Enzymopathies are commonly associated with normocytic normochromic hemolytic anemia. In contrast to other hereditary red cell disorders such as membrane disorders or hemoglobinopathies, the morphology of the red blood cell shows no specific abnormalities. Diagnosis is based on detection of reduced specific enzyme activity and molecular characterization of the defect on the DNA level. The most common enzyme disorders are deficiencies of glucose-6-phosphate dehydrogenase (G6PD) and pyruvate kinase (PK). However, there are a number of other enzyme disorders, often much less known, causing HNSHA. These disorders are rare and often underdiagnosed, and the purpose of this review. In this brief review, we provide an overview of clinically relevant enzymes, their function in red cell metabolism, and key aspects of laboratory diagnosis.

  6. Survey of herbal cannabis (marijuana) use in rheumatology clinic attenders with a rheumatologist confirmed diagnosis.

    PubMed

    Ste-Marie, Peter A; Shir, Yoram; Rampakakis, Emmanouil; Sampalis, John S; Karellis, Angela; Cohen, Martin; Starr, Michael; Ware, Mark A; Fitzcharles, Mary-Ann

    2016-12-01

    Cannabinoids may hold potential for the management of rheumatic pain. Arthritis, often self-reported, is commonly cited as the reason for the use of medicinal herbal cannabis (marijuana). We have examined the prevalence of marijuana use among 1000 consecutive rheumatology patients with a rheumatologist-confirmed diagnosis and compared in an exploratory manner the clinical characteristics of medicinal users and nonusers. Current marijuana use, medicinal or recreational, was reported by 38 patients (3.8%; 95% CI: 2.8-5.2). Ever use of marijuana for medical purposes was reported by 4.3% (95% CI: 3.2-5.7), with 28 (2.8%; 95% CI: 1.9-4.0) reporting current medicinal use. Current medicinal users had a spectrum of rheumatic conditions, with over half diagnosed with osteoarthritis. Medicinal users were younger, more likely unemployed or disabled, and reported poorer global health. Pain report and opioid use was greater for users, but they had similar physician global assessment of disease status compared with nonusers. Medicinal users were more likely previous recreational users, with approximately 40% reporting concurrent recreational use. Therefore, less than 3% of rheumatology patients reported current use of medicinal marijuana. This low rate of use in patients with a rheumatologist-confirmed diagnosis is in stark contrast to the high rates of severe arthritis frequently reported by medicinal marijuana users, especially in Canada. Familiarity with marijuana as a recreational product may explain use for some as disease status was similar for both groups.

  7. Poor R wave progression in the precordial leads: clinical implications for the diagnosis of myocardial infarction.

    PubMed

    DePace, N L; Colby, J; Hakki, A H; Manno, B; Horowitz, L N; Iskandrian, A S

    1983-12-01

    A definite diagnosis of anterior myocardial infarction is often difficult to make in patients when a pattern of poor R wave progression in the precordial leads is present on the electrocardiogram. The purpose of this study was to determine whether a mathematical model could be devised to identify patients with anterior infarction among 102 consecutive patients with poor R wave progression. Each patient underwent exercise testing with thallium scanning. The diagnosis of anterior infarction was established in 20 (20%) of the 102 patients by the presence of fixed thallium-201 perfusion defects in the anterior wall or septum, or both. With the use of a multivariate stepwise discriminant analysis of clinical and electrocardiographic variables, five variables (sex, ST-T changes, S wave amplitude in leads V2 and V3 and the sum of the R wave amplitude in leads V3 and V4) that were statistically significant by univariate analysis were selected by the model to identify patients with anterior infarction (sensitivity 85%, specificity 71%). The discriminant model was subsequently applied prospectively to an additional 21 patients with poor R wave progression and provided a sensitivity of 85% and a specificity of 88%. Thus, anterior infarction (fixed thallium-201 defects in the anteroseptal segments) was present in 20% of patients with poor R wave progression in the precordial leads; and a mathematical model can be used to identify a subset of patients with anterior infarction in a group of patients with poor R wave progression.

  8. Clinical utility of the reticulocyte hemoglobin content in the diagnosis of iron deficiency.

    PubMed

    Mast, Alan E; Blinder, Morey A; Lu, Qing; Flax, Sherri; Dietzen, Dennis J

    2002-02-15

    Determination of the reticulocyte hemoglobin content (CHr) provides an early measure of functional iron deficiency because reticulocytes are the earliest erythrocytes released into blood and circulate for only 1 to 2 days. The CHr in 78 patients undergoing bone marrow examination was measured to assess its clinical utility for the diagnosis of iron deficiency. Twenty-eight patients were iron deficient, based on the lack of stainable iron in the aspirate. The diagnostic power of CHr is limited in patients with high mean cellular volume (MCV) or red cell disorders such as thalassemia. However, when patients with MCV more than 100 fL are excluded, receiver operator curve analysis of CHr, ferritin, transferrin saturation, and MCV demonstrates that CHr has the highest overall sensitivity and specificity of these peripheral blood tests for predicting the absence of bone marrow iron stores.

  9. Clinical Validation of the "Sedentary Lifestyle" Nursing Diagnosis in Secondary School Students.

    PubMed

    de Oliveira, Marcos Renato; da Silva, Viviane Martins; Guedes, Nirla Gomes; de Oliveira Lopes, Marcos Venícios

    2016-06-01

    This study clinically validated the nursing diagnosis of "sedentary lifestyle" (SL) among 564 Brazilian adolescents. Measures of diagnostic accuracy were calculated for defining characteristics, and Mantel-Haenszel analysis was used to identify related factors. The measures of diagnostic accuracy showed that the following defining characteristics were statistically significant: "average daily physical activity less than recommended for gender and age," "preference for activity low in physical activity," "nonengagement in leisure time physical activities," and "diminished respiratory capacity." An SL showed statistically significant associations with the following related factors: insufficient motivation for physical activity; insufficient interest in physical activity; insufficient resources for physical activity; insufficient social support for physical activity; attitudes, beliefs, and health habits that hinder physical activity; and insufficient confidence for practicing physical exercises. The study highlighted the four defining characteristics and six related factors for making decisions related to SL among adolescents.

  10. Clinical presentation, diagnosis and management of Cryptococcus gattii cases: Lessons learned from British Columbia

    PubMed Central

    Galanis, Eleni; Hoang, Linda; Kibsey, Pamela; Morshed, Muhammad; Phillips, Peter

    2009-01-01

    The environmental fungus Cryptococcus gattii emerged on Vancouver Island, British Columbia (BC), in 1999. By the end of 2006, it led to 176 cases and eight deaths – one of the highest burdens of C gattii disease worldwide. The present paper describes three cases, and the BC experience in the diagnosis and management of this infection. All three cases presented with pulmonary findings, including cryptococcomas and infiltrates. One also presented with brain cryptococcomas. Cases were diagnosed by chest and brain imaging, and laboratory evidence including serum or cerebrospinal fluid cryptococcal antigen detection and culture of respiratory or cerebrospinal fluid specimens. Genotyping of fungal isolates confirmed infection with C gattii VGIIa. Pulmonary cases were treated with fluconazole. One patient with central nervous system disease was treated with amphotericin B followed by fluconazole. Although this infection remains rare, clinicians should be aware of it in patients with a compatible clinical presentation who are either living in or returning from a trip to BC. PMID:20190892

  11. Update on Merkel Cell Carcinoma: Epidemiology, Etiopathogenesis, Clinical Features, Diagnosis, and Staging.

    PubMed

    Llombart, B; Requena, C; Cruz, J

    2017-03-01

    Merkel cell carcinoma (MCC) is a rare, highly aggressive tumor, and local or regional disease recurrence is common, as is metastasis. MCC usually develops in sun-exposed skin in patients of advanced age. Its incidence has risen 4-fold in recent decades as the population has aged and immunohistochemical techniques have led to more diagnoses. The pathogenesis of MCC remains unclear but UV radiation, immunosuppression, and the presence of Merkel cell polyomavirus in the tumor genome seem to play key roles. This review seeks to update our understanding of the epidemiology, etiology, pathogenesis, and clinical features of MCC. We also review histologic and immunohistochemical features required for diagnosis. MCC staging is discussed, given its great importance in establishing a prognosis for these patients.

  12. Molecular testing for clinical diagnosis and epidemiological investigations of intestinal parasitic infections.

    PubMed

    Verweij, Jaco J; Stensvold, C Rune

    2014-04-01

    Over the past few decades, nucleic acid-based methods have been developed for the diagnosis of intestinal parasitic infections. Advantages of nucleic acid-based methods are numerous; typically, these include increased sensitivity and specificity and simpler standardization of diagnostic procedures. DNA samples can also be stored and used for genetic characterization and molecular typing, providing a valuable tool for surveys and surveillance studies. A variety of technologies have been applied, and some specific and general pitfalls and limitations have been identified. This review provides an overview of the multitude of methods that have been reported for the detection of intestinal parasites and offers some guidance in applying these methods in the clinical laboratory and in epidemiological studies.

  13. [Clinical findings and diagnosis of a severs parapoxvirus epidemic in Finnish reindeer].

    PubMed

    Büttner, M; von Einem, C; McInnes, C; Oksanen, A

    1995-12-01

    During the winter of 1992/93 a parapox epidemic in reindeer occurred in the southern and central areas of Finland which killed 400 animals and 2750 animals showed clinical symptoms. At least ten cases of human infections and disease were reported. In addition to the uncertain epidemiology, the diagnosis using conventional methods was difficult and time consuming. Based upon published sequence data of the parapoxvirus (PPV) ovis prototype strain NZ-2, two different polymerase chain reaction (PCR) protocols were performed. The detection of a PPV specific nucleotide sequence encoding a region of the 42 kD major envelope protein proved to be reproducible. DNA extraction from scab samples was not absolutely necessary prior to the PCR procedure. PCR for the detection of PPV infection can be recommended as a flanking diagnostic method, especially when electron microscopy shows negative results. PCR may be a useful method to differentiate sheep-poxvirus and to reveal epidemiology and identity of new PPV isolates.

  14. [Clinical diagnosis and treatment of anti-NMDA (N-methyl-D-aspartate) receptor encephalitis].

    PubMed

    Kamei, Satoshi

    2013-05-01

    Recent clinical management of anti-NMDA receptor encephalitis is reviewed. This illness is required the management of the neurological emergency. Typical symptoms of anti-NMDA receptor encephalitis develop in several stages that progresses from psychosis, memory deficits, seizures, and language disintegration into a state of unresponsiveness with catatonic features often associated with abnormal movements, and autonomic and respiratory instability. The diagnosis is depended on the detection of the NMDA receptor antibody in CSF or serum under the above characteristic symptoms of encephalitis. The disorder predominantly affects children and young adults, occurs with or without tumor association. The presence of a tumor (usually an ovarian teratoma) is dependent on age and sex, being more frequent in women older than 18 years. Anti-NMDA receptor encephalitis should be treated with tumor resection and immunotherapy (corticosteroids, intravenous immunoglobulin, or plasma exchange) responded faster to treatment and less frequently needed second-line immunotherapy (cyclophosphamide or rituximab, or both).

  15. Molecular Testing for Clinical Diagnosis and Epidemiological Investigations of Intestinal Parasitic Infections

    PubMed Central

    Stensvold, C. Rune

    2014-01-01

    SUMMARY Over the past few decades, nucleic acid-based methods have been developed for the diagnosis of intestinal parasitic infections. Advantages of nucleic acid-based methods are numerous; typically, these include increased sensitivity and specificity and simpler standardization of diagnostic procedures. DNA samples can also be stored and used for genetic characterization and molecular typing, providing a valuable tool for surveys and surveillance studies. A variety of technologies have been applied, and some specific and general pitfalls and limitations have been identified. This review provides an overview of the multitude of methods that have been reported for the detection of intestinal parasites and offers some guidance in applying these methods in the clinical laboratory and in epidemiological studies. PMID:24696439

  16. Development and implementation of standardized respiratory chain spectrophotometric assays for clinical diagnosis.

    PubMed

    Medja, F; Allouche, S; Frachon, P; Jardel, C; Malgat, M; Mousson de Camaret, B; Slama, A; Lunardi, J; Mazat, J P; Lombès, A

    2009-09-01

    Diversity of respiratory chain spectrophotometric assays may lead to difficult comparison of results between centers. The French network of mitochondrial diseases diagnostic centers undertook comparison of the results obtained with different protocols in the French diagnostic centers. The diversity of protocols was shown to have striking consequences, which prompted the network to undertake standardization and optimization of the protocols with respect to clinical diagnosis, i.e. high velocity while maintaining linear kinetics relative to time and enzyme concentration. Assays were set up on animal tissues and verified on control human muscle and fibroblasts. Influence of homogenization buffer and narrow range of optimal concentration of phosphate, substrate and tissue were shown. Experimental data and proposed protocols have been posted on a free access website. Their subsequent use in several diagnostic centers has improved consistency for all assays.

  17. Melioidosis in animals: a review on epizootiology, diagnosis and clinical presentation.

    PubMed

    Sprague, L D; Neubauer, H

    2004-09-01

    Melioidosis, an infectious disease caused by Burkholderia pseudomallei is an emerging disease with high impact on animals and man. In different animal species, the clinical course varies and delayed diagnosis poses risks for the dissemination of the agent in non-endemic areas. Not only migration and transport of animals around the world but also tourism increases the risk that melioidosis can leave its endemic boundaries and establish itself elsewhere. Detection of the agent is a major challenge, as the agent has to be handled in laboratories of biosafety level 3 and test kits are not yet commercially available. Veterinarians and doctors should be aware of melioidosis not only as an agent of public interest but also in terms of a bioterrorist attack. The aim of this review is to describe the agent, its aetiology, the manifestation in a variety of animal species as well as to describe diagnostic procedures, typing techniques and countermeasures.

  18. Simple X-ray versus ultrasonography examination in blunt chest trauma: effective tools of accurate diagnosis and considerations for rib fractures

    PubMed Central

    Hwang, Eun Gu; Lee, Yunjung

    2016-01-01

    Simple radiography is the best diagnostic tool for rib fractures caused by chest trauma, but it has some limitations. Thus, other tools are also being used. The aims of this study were to investigate the effectiveness of ultrasonography (US) for identifying rib fractures and to identify influencing factors of its effectiveness. Between October 2003 and August 2007, 201 patients with blunt chest trauma were available to undergo chest radiographic and US examinations for diagnosis of rib fractures. The two modalities were compared in terms of effectiveness based on simple radiographic readings and US examination results. We also investigated the factors that influenced the effectiveness of US examination. Rib fractures were detected on radiography in 69 patients (34.3%) but not in 132 patients. Rib fractures were diagnosed by using US examination in 160 patients (84.6%). Of the 132 patients who showed no rib fractures on radiography, 92 showed rib fractures on US. Among the 69 patients of rib fracture detected on radiography, 33 had additional rib fractures detected on US. Of the patients, 76 (37.8%) had identical radiographic and US results, and 125 (62.2%) had fractures detected on US that were previously undetected on radiography or additional fractures detected on US. Age, duration until US examination, and fracture location were not significant influencing factors. However, in the group without detected fractures on radiography, US showed a more significant effectiveness than in the group with detected fractures on radiography (P=0.003). US examination could detect unnoticed rib fractures on simple radiography. US examination is especially more effective in the group without detected fractures on radiography. More attention should be paid to patients with chest trauma who have no detected fractures on radiography. PMID:28119889

  19. A Highly Sensitive Porous Silicon (P-Si)-Based Human Kallikrein 2 (hK2) Immunoassay Platform toward Accurate Diagnosis of Prostate Cancer.

    PubMed

    Lee, Sang Wook; Hosokawa, Kazuo; Kim, Soyoun; Jeong, Ok Chan; Lilja, Hans; Laurell, Thomas; Maeda, Mizuo

    2015-05-22

    Levels of total human kallikrein 2 (hK2), a protein involved the pathology of prostate cancer (PCa), could be used as a biomarker to aid in the diagnosis of this disease. In this study, we report on a porous silicon antibody immunoassay platform for the detection of serum levels of total hK2. The surface of porous silicon has a 3-dimensional macro- and nanoporous structure, which offers a large binding capacity for capturing probe molecules. The tailored pore size of the porous silicon also allows efficient immobilization of antibodies by surface adsorption, and does not require chemical immobilization. Monoclonal hK2 capture antibody (6B7) was dispensed onto P-Si chip using a piezoelectric dispenser. In total 13 × 13 arrays (169 spots) were spotted on the chip with its single spot volume of 300 pL. For an optimization of capture antibody condition, we firstly performed an immunoassay of the P-Si microarray under a titration series of hK2 in pure buffer (PBS) at three different antibody densities (75, 100 and 145 µg/mL). The best performance of the microarray platform was seen at 100 µg/mL of the capture antibody concentration (LOD was 100 fg/mL). The platform then was subsequently evaluated for a titration series of serum-spiked hK2 samples. The developed platform utilizes only 15 µL of serum per test and the total assay time is about 3 h, including immobilization of the capture antibody. The detection limit of the hK2 assay was 100 fg/mL in PBS buffer and 1 pg/mL in serum with a dynamic range of 106 (10(-4) to 10(2) ng/mL).

  20. Validation of Three Early Ejaculation Diagnostic Tools: A Composite Measure Is Accurate and More Adequate for Diagnosis by Updated Diagnostic Criteria

    PubMed Central

    Jern, Patrick; Piha, Juhana; Santtila, Pekka

    2013-01-01

    Purpose To validate three early ejaculation diagnostic tools, and propose a new tool for diagnosis in line with proposed changes to diagnostic criteria. Significant changes to diagnostic criteria are expected in the near future. Available screening tools do not necessarily reflect proposed changes. Materials and Methods Data from 148 diagnosed early ejaculation patients (Mage = 42.8) and 892 controls (Mage = 33.1 years) from a population-based sample were used. Participants responded to three different questionnaires (Premature Ejaculation Profile; Premature Ejaculation Diagnostic Tool; Multiple Indicators of Premature Ejaculation). Stopwatch measured ejaculation latency times were collected from a subsample of early ejaculation patients. We used two types of responses to the questionnaires depending on the treatment status of the patients 1) responses regarding the situation before starting pharmacological treatment and 2) responses regarding current situation. Logistic regressions and Receiver Operating Characteristics were used to assess ability of both the instruments and individual items to differentiate between patients and controls. Results All instruments had very good precision (Areas under the Curve ranging from .93-.98). A new five-item instrument (named CHecklist for Early Ejaculation Symptoms – CHEES) consisting of high-performance variables selected from the three instruments had validity (Nagelkerke R2 range .51-.79 for backwards/forwards logistic regression) equal to or slightly better than any individual instrument (i.e., had slightly higher validity statistics, but these differences did not achieve statistical significance). Importantly, however, this instrument was more in line with proposed changes to diagnostic criteria. Conclusions All three screening tools had good validity. A new 5-item diagnostic tool (CHEES) based on the three instruments had equal or somewhat more favorable validity statistics compared to the other three tools, but is

  1. A Highly Sensitive Porous Silicon (P-Si)-Based Human Kallikrein 2 (hK2) Immunoassay Platform toward Accurate Diagnosis of Prostate Cancer

    PubMed Central

    Lee, Sang Wook; Hosokawa, Kazuo; Kim, Soyoun; Jeong, Ok Chan; Lilja, Hans; Laurell, Thomas; Maeda, Mizuo

    2015-01-01

    Levels of total human kallikrein 2 (hK2), a protein involved the pathology of prostate cancer (PCa), could be used as a biomarker to aid in the diagnosis of this disease. In this study, we report on a porous silicon antibody immunoassay platform for the detection of serum levels of total hK2. The surface of porous silicon has a 3-dimensional macro- and nanoporous structure, which offers a large binding capacity for capturing probe molecules. The tailored pore size of the porous silicon also allows efficient immobilization of antibodies by surface adsorption, and does not require chemical immobilization. Monoclonal hK2 capture antibody (6B7) was dispensed onto P-Si chip using a piezoelectric dispenser. In total 13 × 13 arrays (169 spots) were spotted on the chip with its single spot volume of 300 pL. For an optimization of capture antibody condition, we firstly performed an immunoassay of the P-Si microarray under a titration series of hK2 in pure buffer (PBS) at three different antibody densities (75, 100 and 145 µg/mL). The best performance of the microarray platform was seen at 100 µg/mL of the capture antibody concentration (LOD was 100 fg/mL). The platform then was subsequently evaluated for a titration series of serum-spiked hK2 samples. The developed platform utilizes only 15 µL of serum per test and the total assay time is about 3 h, including immobilization of the capture antibody. The detection limit of the hK2 assay was 100 fg/mL in PBS buffer and 1 pg/mL in serum with a dynamic range of 106 (10−4 to 102 ng/mL). PMID:26007739

  2. Anconeus Epitrochlearis Muscle Causing Ulnar Neuropathy at the Elbow: Clinical and Neurophysiological Differential Diagnosis.

    PubMed

    Erdem Bagatur, A; Yalcin, Mehmet Burak; Ozer, Utku Erdem

    2016-09-01

    Ulnar neuropathy at the elbow is the second most frequent entrapment neuropathy and is considered idiopathic in most patients. However, several anatomic variations, including the anconeus epitrochlearis muscle, have been reported to cause ulnar nerve compression. The anconeus epitrochlearis muscle is a common anatomic variation, with a prevalence of up to 34%, but the clinical diagnosis of ulnar neuropathy of the elbow as a result of this variation is rare, with an unknown prevalence. It is a congenital accessory muscle between the medial humeral epicondyle and the olecranon that covers the posterior aspect of the cubital tunnel and is usually an operative finding, not a preoperative diagnosis. Ulnar neuropathy as a result of the anconeus epitrochlearis muscle usually has different characteristics than idiopathic disease, including younger age at onset, more rapid progression with a short duration of symptoms, distinct neurophysiology with velocity drop or conduction block of the ulnar nerve, and edema of the anconeus epitrochlearis muscle on magnetic resonance imaging. Neurophysiologic findings in anconeus epitrochlearis-associated ulnar neuropathy indicate subacute onset of symptoms rather than the chronic demyelinating process that is seen in idiopathic ulnar neuropathy. Medial elbow pain may be more exacerbated in these patients rather than the more common sensorial symptoms. This is probably the result of static compression of the nerve and increased cubital tunnel pressure, even when the elbow is in extension. This article describes a case of ulnar nerve entrapment of the elbow in a 28-year-old woman as a result of compression by the anconeus epitrochlearis muscle and includes magnetic resonance imaging findings, surgical correlations, and clinical and neurophysiologic findings. [Orthopedics. 2016; 39(5):e988-e991.].

  3. Sacroiliitis at diagnosis of juvenile spondyloarthritis assessed by radiography, magnetic resonance imaging, and clinical examination

    PubMed Central

    Weiss, Pamela F; Xiao, Rui; Biko, David M; Chauvin, Nancy A

    2015-01-01

    Objective We evaluated the prevalence of sacroiliitis at diagnosis of juvenile spondyloarthritis (JSpA) and the accuracy of physical examination and back pain to detect sacroiliitis, using imaging as the reference standard. Methods We performed a prospective cross-sectional study of 40 children with newly diagnosed JSpA and 14 healthy controls. Subjects were assessed using physical examination, anteroposterior pelvic radiograph, and pelvic MRI. Differences in clinical features between those children with and without sacroiliitis were assessed by Fisher’s exact test for categorical variables and Wilcoxon rank sum test for continuous variables. Accuracy of physical examination and back pain for detection of sacroiliitis was determined using MRI as the reference standard. Predicted probability of sacroiliitis was determined using exact multivariate logistic regression. Results Eight (20%) children with JSpA had active sacroiliitis. Of those subjects with active changes on MRI, 7/8 (88%) also had evidence of erosions or sclerosis. Five (13%) children with JSpA and 1 (7%) control had non-periarticular bone marrow edema. Of the subjects with active sacroiliitis only 3 (38%) reported a history of back pain or tenderness on palpation of the sacroiliac joints. The positive and negative predictive values of clinical exam features and back pain for detection of sacroiliitis were low. The estimated probability of having sacroiliitis was 0.84 (95% CI: 0.40–1.00) in HLA-B27+ patients with an elevated CRP. Conclusion Active sacroiliitis by MRI is common at diagnosis in JSpA and is frequently asymptomatic. Children who are HLA-B27+ and have elevated CRP levels have the highest probability of sacroiliitis. PMID:26212574

  4. Chronic pulmonary aspergillosis: rationale and clinical guidelines for diagnosis and management.

    PubMed

    Denning, David W; Cadranel, Jacques; Beigelman-Aubry, Catherine; Ader, Florence; Chakrabarti, Arunaloke; Blot, Stijn; Ullmann, Andrew J; Dimopoulos, George; Lange, Christoph

    2016-01-01

    Chronic pulmonary aspergillosis (CPA) is an uncommon and problematic pulmonary disease, complicating many other respiratory disorders, thought to affect ~240 000 people in Europe. The most common form of CPA is chronic cavitary pulmonary aspergillosis (CCPA), which untreated may progress to chronic fibrosing pulmonary aspergillosis. Less common manifestations include: Aspergillus nodule and single aspergilloma. All these entities are found in non-immunocompromised patients with prior or current lung disease. Subacute invasive pulmonary aspergillosis (formerly called chronic necrotising pulmonary aspergillosis) is a more rapidly progressive infection (<3 months) usually found in moderately immunocompromised patients, which should be managed as invasive aspergillosis. Few clinical guidelines have been previously proposed for either diagnosis or management of CPA. A group of experts convened to develop clinical, radiological and microbiological guidelines. The diagnosis of CPA requires a combination of characteristics: one or more cavities with or without a fungal ball present or nodules on thoracic imaging, direct evidence of Aspergillus infection (microscopy or culture from biopsy) or an immunological response to Aspergillus spp. and exclusion of alternative diagnoses, all present for at least 3 months. Aspergillus antibody (precipitins) is elevated in over 90% of patients. Surgical excision of simple aspergilloma is recommended, if technically possible, and preferably via video-assisted thoracic surgery technique. Long-term oral antifungal therapy is recommended for CCPA to improve overall health status and respiratory symptoms, arrest haemoptysis and prevent progression. Careful monitoring of azole serum concentrations, drug interactions and possible toxicities is recommended. Haemoptysis may be controlled with tranexamic acid and bronchial artery embolisation, rarely surgical resection, and may be a sign of therapeutic failure and/or antifungal resistance

  5. Towards the routine use of brain imaging to aid the clinical diagnosis of disorders of consciousness.

    PubMed

    Coleman, M R; Davis, M H; Rodd, J M; Robson, T; Ali, A; Owen, A M; Pickard, J D

    2009-09-01

    Clinical audits have highlighted the many challenges and dilemmas faced by clinicians assessing persons with disorders of consciousness (vegetative state and minimally conscious state). The diagnostic decision-making process is highly subjective, dependent upon the skills of the examiner and invariably dictated by the patients' ability to move or speak. Whilst a considerable amount has been learnt since Jennett and Plum coined the term 'vegetative state', the assessment process remains largely unchanged; conducted at the bedside, using behavioural assessment tools, which are susceptible to environmental and physiological factors. This has created a situation where the rate of misdiagnosis is unacceptably high (up to 43%). In order to address these problems, various functional brain imaging paradigms, which do not rely upon the patient's ability to move or speak, have been proposed as a source of additional information to inform the diagnostic decision making process. Although accumulated evidence from brain imaging, particularly functional magnetic resonance imaging (fMRI), has been encouraging, the empirical evidence is still based on relatively small numbers of patients. It remains unclear whether brain imaging is capable of informing the diagnosis beyond the behavioural assessment and whether brain imaging has any prognostic utility. In this study, we describe the functional brain imaging findings from a group of 41 patients with disorders of consciousness, who undertook a hierarchical speech processing task. We found, contrary to the clinical impression of a specialist team using behavioural assessment tools, that two patients referred to the study with a diagnosis of vegetative state did in fact demonstrate neural correlates of speech comprehension when assessed using functional brain imaging. These fMRI findings were found to have no association with the patient's behavioural presentation at the time of investigation and thus provided additional diagnostic

  6. Reminder systems to improve patient adherence to tuberculosis clinic appointments for diagnosis and treatment

    PubMed Central

    Liu, Qin; Abba, Katharine; Alejandria, Marissa M; Sinclair, David; Balanag, Vincent M; Lansang, Mary Ann D

    2014-01-01

    Background People with active tuberculosis (TB) require six months of treatment. Some people find it difficult to complete treatment, and there are several approaches to help ensure completion. One such system relies on reminders, where the health system prompts patients to attend for appointments on time, or re-engages people who have missed or defaulted on a scheduled appointment. Objectives To assess the effects of reminder systems on improving attendance at TB diagnosis, prophylaxis, and treatment clinic appointments, and their effects on TB treatment outcomes. Search methods We searched the Cochrane Infectious Diseases Group Specialized Register, Cochrane Effective Practice andOrganization of Care Group Specialized Register, CENTRAL,MEDLINE, EMBASE, LILACS, CINAHL, SCI-EXPANDED, SSCI, m RCT, and the Indian Journal of Tuberculosis without language restriction up to 29 August 2014. We also checked reference lists and contacted researchers working in the field. Selection criteria Randomized controlled trials (RCTs), including cluster RCTs and quasi-RCTs, and controlled before-and-after studies comparing reminder systems with no reminders or an alternative reminder system for people with scheduled appointments for TB diagnosis, prophylaxis, or treatment. Data collection and analysis Two review authors independently extracted data and assessed the risk of bias in the included trials. We compared the effects of interventions by using risk ratios (RR) and presented RRs with 95% confidence intervals (CIs). Also we assessed the quality of evidence using the GRADE approach. Main results Nine trials, including 4654 participants, met our inclusion criteria. Five trials evaluated appointment reminders for people on treatment for active TB, two for people on prophylaxis for latent TB, and four for people undergoing TB screening using skin tests.We classified the interventions into 'pre-appointment' reminders (telephone calls or letters prior to a scheduled appointment) or

  7. AMERICAN COLLEGE OF GASTROENTEROLOGY CLINICAL GUIDELINE: DIAGNOSIS AND MANAGEMENT OF CELIAC DISEASE

    PubMed Central

    Rubio-Tapia, Alberto; Hill, Ivor D; Kelly, Ciarán P; Calderwood, Audrey H; Murray, Joseph A

    2013-01-01

    This guideline presents recommendations for the diagnosis and management of patients with celiac disease. Celiac disease is an immune-based reaction to dietary gluten (storage protein for wheat, barley and rye) that primarily affects the small intestine in those with a genetic predisposition and resolves with exclusion of gluten from the diet. There has been a substantial increase in the prevalence of celiac disease over the last 50 years and an increase in the rate of diagnosis in the last 10 years. Celiac disease can present with many symptoms, including typical gastrointestinal symptoms (e.g. diarrhea, steatorrhea, weight loss, bloating, flatulence, abdominal pain) and also non-gastrointestinal abnormalities (e.g. abnormal liver function tests, iron deficiency anemia, bone disease, skin disorders, and many other protean manifestations). Indeed, many individuals with celiac disease may have no symptoms at all. Celiac disease is usually detected by serologic testing of celiac-specific antibodies. The diagnosis is confirmed by duodenal mucosal biopsies. Both serology and biopsy should be performed on a gluten-containing diet. The treatment for celiac disease is primarily a gluten-free diet (GFD), which requires significant patient education, motivation, and follow-up. Non-responsive celiac disease occurs frequently, particularly in those diagnosed in adulthood. Persistent or recurring symptoms should lead to a review of the patient’s original diagnosis to exclude alternative diagnoses, a review of the GFD to ensure there is no obvious gluten contamination, and serologic testing to confirm adherence with the GFD. In addition, evaluation for disorders associated with celiac disease that could cause persistent symptoms, such as microscopic colitis, pancreatic exocrine dysfunction, and complications of celiac disease, such as enteropathy-associated lymphoma or refractory celiac disease, should be entertained. Newer therapeutic modalities are being studied in clinical

  8. New attitudes to sexuality in the menopause: clinical evaluation and diagnosis.

    PubMed

    Nappi, R E

    2007-10-01

    Sexuality is a critical issue at menopause for many women. Several biological, psychological and socio-relational factors are related to women's sexual health and they may negatively affect the entire sexual response cycle, inducing significant changes in desire, arousal, orgasm and satisfaction. Age- and menopause-related events may impair the integrity of multiple biological systems involved in the normal sexual response of women, including hormonal environment, neuromuscular substrates and vascular supplies. Sex hormones, namely low levels of estradiol, physical and mental well-being and, very importantly, feelings for partner are extremely relevant for women's sexuality in natural menopause. Even a significant lack of androgens, as more frequently occurs in surgical menopause, has a negative impact on women's desire and sexual responsiveness. Sexual history and clinical evaluation may help doctors to accurately diagnose sexual symptoms causing personal and relational distress and to identify the best therapeutic approach.

  9. Examining the potential clinical value of curcumin in the prevention and diagnosis of Alzheimer's disease.

    PubMed

    Goozee, K G; Shah, T M; Sohrabi, H R; Rainey-Smith, S R; Brown, B; Verdile, G; Martins, R N

    2016-02-14

    Curcumin derived from turmeric is well documented for its anti-carcinogenic, antioxidant and anti-inflammatory properties. Recent studies show that curcumin also possesses neuroprotective and cognitive-enhancing properties that may help delay or prevent neurodegenerative diseases, including Alzheimer's disease (AD). Currently, clinical diagnosis of AD is onerous, and it is primarily based on the exclusion of other causes of dementia. In addition, phase III clinical trials of potential treatments have mostly failed, leaving disease-modifying interventions elusive. AD can be characterised neuropathologically by the deposition of extracellular β amyloid (Aβ) plaques and intracellular accumulation of tau-containing neurofibrillary tangles. Disruptions in Aβ metabolism/clearance contribute to AD pathogenesis. In vitro studies have shown that Aβ metabolism is altered by curcumin, and animal studies report that curcumin may influence brain function and the development of dementia, because of its antioxidant and anti-inflammatory properties, as well as its ability to influence Aβ metabolism. However, clinical studies of curcumin have revealed limited effects to date, most likely because of curcumin's relatively low solubility and bioavailability, and because of selection of cohorts with diagnosed AD, in whom there is already major neuropathology. However, the fresh approach of targeting early AD pathology (by treating healthy, pre-clinical and mild cognitive impairment-stage cohorts) combined with new curcumin formulations that increase bioavailability is renewing optimism concerning curcumin-based therapy. The aim of this paper is to review the current evidence supporting an association between curcumin and modulation of AD pathology, including in vitro and in vivo studies. We also review the use of curcumin in emerging retinal imaging technology, as a fluorochrome for AD diagnostics.

  10. Variable expressivity and clinical heterogeneity can complicate the diagnosis and management of Pfeiffer syndrome.

    PubMed

    Ettinger, Nicholas; Williams, Misti; Phillips, John A

    2013-01-01

    We report here a newborn female infant with striking features consistent with severe Pfeiffer syndrome (PS). Pfeiffer syndrome is a rare craniofacial disorder that has an autosomal dominant mode of inheritance (OMIM 101600). Our patient had unexpected differences between her clinical features and those predicted from her genetic tests. The following clinical features were noted: severe exophthalmos, syndactyly, upper extremity contractures, and relative macroglossia. A head computed tomography with three-dimensional reconstruction showed that she did not have craniosynostosis. Genetic tests included a normal 46,XX karyotype and a chromosomal microarray that revealed a copy number gain at 14q23.1 as well as a copy number loss at 16p13.2. FGFR2 sequencing revealed a c.870G>T transversion in exon 8, which is predicted to encode a Trp290Cys substitution.The clinical features of severe exophthalmos and other features typical of PS without craniosynostosis were most consistent with a diagnosis of PS type III. However, her Trp290Cys FGFR2 mutation is reported to be associated with PS type II that includes kleeblatschädel (or "cloverleaf") skull anomalies as a cardinal feature. Our patient's lack of craniosynostosis predicted from this mutation is a striking example of variable expressivity. Such discrepancies between the physical findings (phenotype) and the mutation identified (genotype) and the association of different findings with different mutations in the same gene (clinical heterogeneity) can present difficulties in case management. Clinicians should be guided by careful phenotyping rather than by genotypic predictions alone.

  11. Light-induced autofluorescence and diffuse reflectance spectroscopy in clinical diagnosis of skin cancer

    NASA Astrophysics Data System (ADS)

    Borisova, E.; Pavlova, E.; Kundurjiev, T.; Troyanova, P.; Genova, Ts.; Avramov, L.

    2014-05-01

    We investigated more than 500 clinical cases to receive the spectral properties of basal cell (136 patients) and squamous cell carcinoma (28), malignant melanoma (41) and different cutaneous dysplastic and benign cutaneous lesions. Excitation at 365, 385 and 405 nm using LEDs sources is applied to obtain autofluorescence spectra, and broad-band illumination in the region of 400-900 nm is used to detect diffuse reflectance spectra of all pathologies investigated. USB4000 microspectrometer (Ocean Optics Inc, USA) is applied as a detector and fiber-optic probe is used for delivery of the light. In the case of in vivo tumor measurements spectral shape and intensity changes are observed that are specific for a given type of lesion. Autofluorescence origins of the signals coming from skin tissues are mainly due to proteins, such as collagen, elastin, keratin, their cross-links, co-enzimes - NADH and flavins and endogenous porphyrins. Spectral features significant into diffuse spectroscopy diagnosis are related to the effects of re-absorption of hemoglobin and its forms, as well as melanin and its concentration in different pathologies. We developed significant database and revealed specific features for a large class of cutaneous neoplasia, using about 30 different spectral peculiarities to differentiate cutaneous tumors. Sensitivity and specificity obtained exceed 90%, which make optical biopsy very useful tool for clinical practice. These results are obtained in the frames of clinical investigations for development of significant "spectral features" database for the most common cutaneous malignant, dysplastic and benign lesions. In the forthcoming plans, our group tries to optimize the existing experimental system for optical biopsy of skin, and to introduce it and the diagnostic algorithms developed into clinical practice, based on the high diagnostic accuracy achieved.

  12. Optical diagnosis of acute scrotum in children

    NASA Astrophysics Data System (ADS)

    Shadgan, Babak; Macnab, Andrew; Stothers, Lynn; Nigro, Mark; Afshar, Kourosh; Kajbafzadeh, A. M.

    2015-03-01

    Acute scrotum is a urologic condition defined by scrotal pain, swelling, and redness of acute onset. Prompt diagnosis and treatment are necessary to preserve testicular viability. The history and clinical symptoms reported are key to diagnosis and proper treatment, but are not always readily obtained in children, in whom common causes of acute scrotum include testicular torsion, torsion of the appendix testis, and epididymitis. These acute conditions have different causal pathology that mandate specific treatment, hence the importance of early and accurate diagnosis.

  13. Clinical and Laboratory Methods in Diagnosis of Acute Appendicitis in Children

    PubMed Central

    Groselj-Grenc, Mojca; Repše, Stane; Vidmar, Dubravka; Derganc, Metka

    2007-01-01

    Aim To compare the diagnostic accuracy of clinical examination, white blood cell and differential count, and C-reactive protein as routine tests for acute appendicitis with that of interleukin-6 (IL-6) and ultrasonography. Methods Eighty-two children were admitted to the Department of Pediatric Surgery and Intensive Care, Ljubljana, Slovenia because of suspected acute appendicitis. Among them, 49 children underwent surgery for acute appendicitis and 33 had abdominal pain but were not treated surgically and were diagnosed with non-specific abdominal pain or mesenteric lymphadenitis on sonography. Clinical signs of acute appendicitis were determined by surgeons on admission. White blood cell count and differential and serum concentrations of C-reactive protein and IL-6 were measured and abdominal ultrasonography was performed. Results Ultrasonography showed the highest diagnostic accuracy (92.9%; 95% confidence interval [CI], 84.5%-98.0%, Bayes’ theorem), followed by serum IL-6 concentration (77.6% [67.1-86.1%] receiver-operating characteristic [ROC] curve analysis), clinical signs (69.5% [59.5-79.0%] Bayes’ theorem), white blood cell count (68.4% [57.2-78.3%] ROC curve analysis), and serum C-reactive protein concentration (63.7% [52.1-74.3%] ROC curve analysis). Ultrasonography achieved also the highest specificity (95.2%) and positive (93.8%) and negative (93.3%) predictive values, whereas clinical signs showed the highest sensitivity (93.9%). Conclusion Ultrasonography was a more accurate diagnostic method than IL-6 serum concentration, laboratory marker with the highest diagnostic accuracy in our study, and hence it should be a part of the diagnostic procedure for acute appendicitis in children. PMID:17589979

  14. The Ulcerative Colitis Endoscopic Index of Severity More Accurately Reflects Clinical Outcomes and Long-term Prognosis than the Mayo Endoscopic Score

    PubMed Central

    Ikeya, Kentaro; Sugimoto, Ken; Osawa, Satoshi; Kawasaki, Shinsuke; Iida, Takayuki; Maruyama, Yasuhiko; Watanabe, Fumitoshi

    2016-01-01

    Background and Aims: The Ulcerative Colitis Endoscopic Index of Severity (UCEIS) and the Mayo endoscopic score (Mayo ES) are used to evaluate ulcerative colitis (UC) severity. This study compared UCEIS and the Mayo ES for evaluating UC severity and outcomes in patients undergoing remission induction during routine clinical practice with the aim of predicting medium- to long-term prognosis. Methods: Forty-one UC patients who received colonoscopy before and after tacrolimus remission induction therapy were included. An index of clinical activity and endoscopic findings scored by both the UCEIS and the Mayo ES were determined. Changes in UCEIS and Mayo ES before and after induction therapy were compared. Results: The mean UCEIS improved from 6.2±0.9 to 3.4±2.1 (p < 0.001). Based on the UCEIS, a significant reduction was reached in both the response and the remission groups. In contrast, the Mayo ES did not reflect a significant change in the response group. The discrepancy appeared to be due to ulcers becoming smaller and shallower during the early stages of mucosal healing; the Mayo ES seems to miss these early changes. In other words, whereas the UCEIS indicates improvements when ulcers shrink, the Mayo ES does not distinguish deep ulcers from shallow ulcers and is 3 (severe UC) for both deep and shallow ulcers. Additionally, better UCEIS strata after induction therapy were associated with lower incidences of colectomy (p = 0.0001) or relapse (p = 0.0008). Conclusions: The UCEIS accurately reflects clinical outcomes and predicts the medium- to long-term prognosis in UC patients undergoing induction therapy. These findings should support decision-making in clinical practice settings. PMID:26581895

  15. Towards the pre-clinical diagnosis of hypothyroidism caused by iodotyrosine deiodinase (DEHAL1) defects.

    PubMed

    Iglesias, Ainhoa; García-Nimo, Laura; Cocho de Juan, José A; Moreno, José C

    2014-03-01

    DEHAL1 (also named IYD) is the thyroidal enzyme that deiodinates mono- and diiodotyrosines (MIT, DIT) and recycles iodine, a scarce element in the environment, for the efficient synthesis of thyroid hormone. Failure of this enzyme leads to the iodotyrosine deiodinase deficiency (ITDD), characterized by hypothyroidism, compressive goiter and variable mental retardation, whose diagnostic hallmark is the elevation of iodotyrosines in serum and urine. However, the specific diagnosis of this type of hypothyroidism is not routinely performed, due to technical and practical difficulties in iodotyrosine determinations. A handful of mutations in the DEHAL1 gene have been identified as the molecular basis for the ITDD. Patients harboring DEHAL1 defects so far described all belong to consanguineous families, and psychomotor deficits were present in some affected individuals. This is probably due to the lack of biochemical expression of the disease at the beginning of life, which causes ITDD being undetected in screening programs for congenital hypothyroidism, as currently performed. This worrying feature calls for efforts to improve pre-clinical detection of iodotyrosine deiodinase deficiency during the neonatal time. Such a challenge poses questions of patho-physiological (natural history of the disease, environmental factors influencing its expression) epidemiological (prevalence of ITDD) and technical nature (development of optimal methodology for safe detection of pre-clinical ITDD), which will be addressed in this review.

  16. Cutaneous and Mucosal Lichen Planus: A Comprehensive Review of Clinical Subtypes, Risk Factors, Diagnosis, and Prognosis

    PubMed Central

    2014-01-01

    Lichen planus (LP) is a chronic inflammatory disorder that most often affects middle-aged adults. LP can involve the skin or mucous membranes including the oral, vulvovaginal, esophageal, laryngeal, and conjunctival mucosa. It has different variants based on the morphology of the lesions and the site of involvement. The literature suggests that certain presentations of the disease such as esophageal or ophthalmological involvement are underdiagnosed. The burden of the disease is higher in some variants including hypertrophic LP and erosive oral LP, which may have a more chronic pattern. LP can significantly affect the quality of life of patients as well. Drugs or contact allergens can cause lichenoid reactions as the main differential diagnosis of LP. LP is a T-cell mediated immunologic disease but the responsible antigen remains unidentified. In this paper, we review the history, epidemiology, and clinical subtypes of LP. We also review the histopathologic aspects of the disease, differential diagnoses, immunopathogenesis, and the clinical and genetic correlations. PMID:24672362

  17. Pseudomonas aeruginosa infection in patients with cystic fibrosis: scientific evidence regarding clinical impact, diagnosis, and treatment*

    PubMed Central

    da Silva, Luiz Vicente Ribeiro Ferreira; Ferreira, Flavia de Aguiar; Reis, Francisco José Caldeira; de Britto, Murilo Carlos Amorim; Levy, Carlos Emilio; Clark, Otavio; Ribeiro, José Dirceu

    2013-01-01

    Evidence-based techniques have been increasingly used in the creation of clinical guidelines and the development of recommendations for medical practice. The use of levels of evidence allows the reader to identify the quality of scientific information that supports the recommendations made by experts. The objective of this review was to address current concepts related to the clinical impact, diagnosis, and treatment of Pseudomonas aeruginosa infections in patients with cystic fibrosis. For the preparation of this review, the authors defined a group of questions that would be answered in accordance with the principles of PICO–an acronym based on questions regarding the Patients of interest, Intervention being studied, Comparison of the intervention, and Outcome of interest. For each question, a structured review of the literature was performed using the Medline database in order to identify the studies with the methodological design most appropriate to answering the question. The questions were designed so that each of the authors could write a response. A first draft was prepared and discussed by the group. Recommendations were then made on the basis of the level of scientific evidence, in accordance with the classification system devised by the Oxford Centre for Evidence-Based Medicine, as well as the level of agreement among the members of the group. PMID:24068273

  18. Pathophysiology, diagnosis and clinical management of hepatorenal syndrome: from classic to new drugs.

    PubMed

    Barbano, Biagio; Sardo, Liborio; Gigante, Antonietta; Gasperini, Maria Ludovica; Liberatori, Marta; Giraldi, Gianluca Di Lazzaro; Lacanna, Antonio; Amoroso, Antonio; Cianci, Rosario

    2014-01-01

    Advanced cirrhosis is frequently associated with renal dysfunction. Hepatorenal syndrome (HRS) is characterized by the occurrence of kidney injury in cirrhotic patients in the absence of other identifiable causes. HRS is classified in 2 different types. Type 1 is characterized by acute renal failure and rapid functional deterioration of other organs, usually related to a precipitating event. Type 2 is characterized by slowly progressive renal failure and refractory ascites. Advanced liver disease induces the progression of hemodynamic alterations such as arterial vasodilation of splanchnic circulation and impairment of cardiac function. The resulting ineffective circulating blood volume promotes the activation of both the renin-angiotensin-aldosterone and sympathetic nervous system, by an increase of antidiuretic hormone activity, in an attempt to restore volemia. Despite fluid retention, ascites and dilutional hyponatremia, renal function is often initially preserved by renal production of vasodilators. However, further insults can lead to an imbalance between systemic vasoconstriction and local renal vasodilation, resulting in progressive renal failure. Over the last decade, clinical strategies to prevent HRS have been improved by a better understanding of the natural history of renal failure in cirrhosis, resulting in a reduction of HRS prevalence in cirrhotic patients. Vasoconstrictor drugs may improve renal function, but the effect on mortality has not yet been established. Vaptans, nonpeptide vasopressin receptor antagonists, may also reduce hyponatraemia and ascites, even if the clinical effects in HRS remain unknown. This review updates the pathophysiology, diagnosis and management of HRS.

  19. From Pathogenesis, Clinical Manifestation, and Diagnosis to Treatment: An Overview on Autoimmune Pancreatitis

    PubMed Central

    Cai, Ou

    2017-01-01

    Autoimmune pancreatitis (AIP) is a special type of chronic pancreatitis which is autoimmune mediated. The international consensus diagnostic criteria (ICDC) 2011 proposed two types of AIP: type I is associated with histological pattern of lymphoplasmacytic sclerosing pancreatitis (LPSP), characterized by serum IgG4 elevation, whereas type 2 is named idiopathic duct-centric pancreatitis (IDCP), with granulocytic epithelial lesion (GEL) and immunoglobulin G4 (IgG4) negative. The pathogenic mechanism is unclear now; based on genetic factors, disease specific or related antigens, innate and adaptive immunity may be involved. The most common clinical manifestations of AIP are obstructive jaundice and upper abdominal pain. The diagnosis can be made by a combination of parenchymal and ductal imaging, serum IgG4 concentrations, pancreatic histology, extrapancreatic disease, and glucocorticoid responsiveness according to ICDC 2011. Because of the clinical and imaging similarities with pancreatic cancer, general work-up should be done carefully to exclude pancreatic malignant tumor before empirical trial of glucocorticoid treatment. Glucocorticoid is the most common drug for AIP to induce remission, while there still exists controversy on steroid maintenance and treatment for relapse. Further studies should be done to identify more specific serum biomarkers for AIP, the pathogenic mechanisms, and the treatment for relapse. PMID:28197205

  20. Patterns of Weakness, Classification of Motor Neuron Disease & Clinical Diagnosis of Sporadic ALS

    PubMed Central

    Statland, Jeffrey M.; Barohn, Richard J.; McVey, April L.; Katz, Jonathan; Dimachkie, Mazen M.

    2015-01-01

    Synopsis When approaching the patient with suspected motor neuron disease (MND) the pattern of weakness on exam helps distinguish MND from other diseases of peripheral nerves, the neuromuscular junction, or muscle. MND is a clinical diagnosis supported by findings on electrodiagnostic testing, in the absence of other abnormalities on neuroimaging or serological testing. MNDs exist on a spectrum: from a pure lower motor neuron; to mixed upper and lower motor neuron; to a pure upper motor neuron variant in addition to regional variants restricted to the arms, legs or bulbar region. Amyotrophic lateral sclerosis (ALS) is a progressive mixed upper and lower motor neuron disorder, most commonly sporadic (~85%), which is invariably fatal. The only FDA approved treatments for ALS are riluzole, which prolongs life by about 3 months, and dextromethorphan/quinidine which provides symptomatic relief for pseudobulbar affect (inappropriate bouts of laughter or crying). Here we describe a pattern approach to identifying motor neuron disease, and clinical features of sporadic ALS. PMID:26515618

  1. Is amenorrhea a clinically useful criterion for the diagnosis of anorexia nervosa?

    PubMed

    Dalle Grave, Riccardo; Calugi, Simona; Marchesini, Giulio

    2008-12-01

    Aim of the study was to evaluate the clinical characteristics and the treatment outcome of underweight patients with eating disorder (ED) not otherwise specified without amenorrhea (EDNOS-WA), compared with classical anorexia nervosa (AN) cases. Seventy-three consecutive female patients (57 AN, and 16 EDNOS-WA) were evaluated before and after a 20-week cognitive behaviour inpatient treatment (CBT-I). Assessment included anthropometry, the Eating Disorder Examination (EDE), the Beck Depression Inventory (BDI), the State-Trait Anxiety Inventory (STAI), and the Temperament and Character Inventory (TCI). At logistic regression analysis, amenorrhea was only predicted by baseline BMI and intense exercise, not by psychopathological variables. Response to CBT-I was good and similar between groups, without differences in the dropout rate or time-to-dropout. Our data lend support to the hypothesis that the criterion "amenorrhea" is of no clinical utility in the diagnosis and treatment of AN and could be removed in the forthcoming DSM-V proposal.

  2. HIV-associated tuberculosis in developing countries: clinical features, diagnosis, and treatment.

    PubMed Central

    Raviglione, M. C.; Narain, J. P.; Kochi, A.

    1992-01-01

    This article reviews the clinical aspects and diagnosis of HIV-associated tuberculosis in developing countries, and summarizes WHO's recommendations for treatment. According to WHO estimates (early 1992) over 4 million persons worldwide have been infected with HIV and tuberculosis; 95% of them are in the developing countries. Clinical features of HIV-associated pulmonary tuberculosis in adults are frequently atypical, particularly in the late stage of HIV infection, with non-cavitary disease, lower lobe infiltrates, hilar lymphadenopathy and pleural effusion. More typical post-primary tuberculosis with upper lobe infiltrates and cavitations is seen in the earlier stages of HIV infection. Extrapulmonary tuberculosis is reported more frequently, despite the difficulties in diagnosing it. WHO's recent guidelines recommend 6-month short-course chemotherapy with isoniazid, rifampicin, pyrazinamide and ethambutol for patients with HIV-associated tuberculosis. The older 12-month regimen without rifampicin is much less effective. Streptomycin should not be used, because of the risk of transmitting blood-borne pathogens through contaminated needles. Thioacetazone should be abandoned, because of severe adverse reactions observed among HIV-infected patients. The roles of preventive chemotherapy and BCG vaccination for prevention of tuberculosis are also briefly discussed. PMID:1394786

  3. Optic Neuritis: Another Dickensian Diagnosis.

    PubMed

    Petzold, Axel

    2013-01-01

    The clinical diagnosis and natural history of optic neuritis was established in the late 1880s by the ophthalmologists von Graefe and Nettleship. The earlier, accurate and insightful description of transient, bilateral visual loss of Esther, the main character in the Charles Dickens novel Bleak House (1852--1853), suggests optic neuritis as a Dickensian diagnosis. Remarkably, Dickens' observations, also preceding the earliest clinical description of multiple sclerosis by Charcot in 1868, described many clinical features such as a prodromal phase; a nadir; gradual recovery over weeks; glare disability; reduced contrast sensitivity; possibly Uhthoff's phenomenon; and visual fading. All this with an accuracy that, to quote Russell Brain, "would credit a trained physician."

  4. Real-world Helicobacter pylori diagnosis in patients referred for esophagoduodenoscopy: The gap between guidelines and clinical practice

    PubMed Central

    Shirin, Dor; Matalon, Shay; Avidan, Benjamin; Broide, Efrat

    2016-01-01

    Background and aims Histopathology is the most accurate test to detect H. pylori when performed correctly with unknown validity in daily practice clinic settings. We aimed to determine the rate of potentially false-negative H. pylori results that might be due to continued use of proton pump inhibitors (PPIs) in routine endoscopy practice. We also aimed to establish whether gastroenterologists recommend routine cessation of PPIs before esophagogastroduodenoscopy (EGD) and whether they regularly document that biopsies for H. pylori testing have been taken while the patients are on PPI treatment. Methods Detailed information about three known factors (PPIs, antibiotics and prior H. pylori eradication treatment), which may cause histology or rapid urease test (RUT) to be unreliable, had been prospectively collected through interviews using a questionnaire before each test. Gastric biopsies were stained with H&E for histological analysis. Results A total of 409 individuals at three academic gastroenterology institutions were tested 200 times with histology. Fifty-six per cent (68 of 122) of all negative tests fell in the category of continuing PPI use, which had the potential to make the histology and RUT results unreliable. Conclusions These data demonstrate a clear and important gap between current guidelines and real-world practice with regards to the diagnosis of H. pylori during EGD. A negative histology or RUT should be considered false negative until potential protocol violations are excluded. Documentation of PPI use during the EGD should be an integral part of the EGD report. The current practice of taking biopsies for H. pylori testing in patients under PPIs should be reevaluated.

  5. DNA studies are necessary for accurate patient diagnosis in compound heterozygosity for Hb Adana (HBA2:c.179>A) with deletional or nondeletional α-thalassaemia

    PubMed Central

    Tan, Jin Ai Mary Anne; Kho, Siew Leng; Ngim, Chin Fang; Chua, Kek Heng; Goh, Ai Sim; Yeoh, Seoh Leng; George, Elizabeth

    2016-01-01

    Haemoglobin (Hb) Adana (HBA2:c.179>A) interacts with deletional and nondeletional α-thalassaemia mutations to produce HbH disorders with varying clinical manifestations from asymptomatic to severe anaemia with significant hepatosplenomegaly. Hb Adana carriers are generally asymptomatic and haemoglobin subtyping is unable to detect this highly unstable α-haemoglobin variant. This study identified 13 patients with compound heterozygosity for Hb Adana with either the 3.7 kb gene deletion (-α3.7), Hb Constant Spring (HbCS) (HBA2:c.427T>C) or Hb Paksé (HBA2:429A>T). Multiplex Amplification Refractory Mutation System was used for the detection of five deletional and six nondeletional α-thalassaemia mutations. Duplex-PCR was used to confirm Hb Paksé and HbCS. Results showed 84.6% of the Hb Adana patients were Malays. Using DNA studies, compound heterozygosity for Hb Adana and HbCS (αcodon 59α/αCSα) was confirmed in 11 patients. A novel point in this investigation was that DNA studies confirmed Hb Paksé for the first time in a Malaysian patient (αcodon 59α/αPakséα) after nine years of being misdiagnosis with Hb Adana and HbCS (αcodon 59α/αCSα). Thus, the reliance on haematology studies and Hb subtyping to detect Hb variants is inadequate in countries where thalassaemia is prevalent and caused by a wide spectrum of mutations. PMID:27271331

  6. Unmasking the Effect of Analgesics on Endodontic Diagnosis Using a Novel Bite Force Sensor Device: A Prospective, Randomized Clinical Trial

    PubMed Central

    Saha, Suparna Ganguly; Bhardwaj, Anuj; Dubey, Sandeep; Saha, Mainak; Kala, Shubham; Jain, Sohini; Narwani, Shweta

    2016-01-01

    Introduction A definitive diagnosis is of primary importance before initiating any endodontic treatment; yet, there are occasions when the dental professional is unable to accurately reproduce the patient’s chief complaint, as it can pose a dilemma and may require consideration of multiple variables in order to reach an accurate diagnosis. So to overcome this problem, a methodical approach in providing endodontic treatment should be implemented which includes diagnosis, definitive dental treatment and adjunctive drug therapy, known as the “3D” strategy. Aim The purpose of this study was to evaluate the possible "masking" effect of these analgesics on endodontic diagnosis using a novel bite force sensor device. Materials and Methods A total of 90 patients with endodontic pain were selected and they were given either a placebo or 400 mg ibuprofen (brufen) or 50mg diclofenac sodium (voveron). Both patients and operators were completely blinded to the drugs administered. Bite force tolerance values were noted before and one hour after administration of medication using the self designed bite force sensor. Results The pre- and post-bite force tolerance values were tabulated for both contralateral and affected tooth. For the affected tooth, there was statistically significant difference between pre- and post-bite force tolerance values in Group I (i.e., ibuprofen) and Group II (i.e., diclofenac sodium) (p<0.05) with no significant difference observed in Group III (placebo). Conclusion The easily available over the counter self administered analgesics in addition to providing symptomatic relief to patients suffering from symptomatic apical periodontitis may also cloud the definitive diagnosis of the clinician, thus jeopardising the treatment plan. The self designed bite force sensor was effective in arriving at a definitive diagnosis in teeth with chronic irreversible pulpitis with symptomatic apical periodontitis, where the allodynia has been camouflaged by the use

  7. Intra-Genomic Internal Transcribed Spacer Region Sequence Heterogeneity and Molecular Diagnosis in Clinical Microbiology.

    PubMed

    Zhao, Ying; Tsang, Chi-Ching; Xiao, Meng; Cheng, Jingwei; Xu, Yingchun; Lau, Susanna K P; Woo, Patrick C Y

    2015-10-22

    Internal transcribed spacer region (ITS) sequencing is the most extensively used technology for accurate molecular identification of fungal pathogens in clinical microbiology laboratories. Intra-genomic ITS sequence heterogeneity, which makes fungal identification based on direct sequencing of PCR products difficult, has rarely been reported in pathogenic fungi. During the process of performing ITS sequencing on 71 yeast strains isolated from various clinical specimens, direct sequencing of the PCR products showed ambiguous sequences in six of them. After cloning the PCR products into plasmids for sequencing, interpretable sequencing electropherograms could be obtained. For each of the six isolates, 10-49 clones were selected for sequencing and two to seven intra-genomic ITS copies were detected. The identities of these six isolates were confirmed to be Candida glabrata (n=2), Pichia (Candida) norvegensis (n=2), Candida tropicalis (n=1) and Saccharomyces cerevisiae (n=1). Multiple sequence alignment revealed that one to four intra-genomic ITS polymorphic sites were present in the six isolates, and all these polymorphic sites were located in the ITS1 and/or ITS2 regions. We report and describe the first evidence of intra-genomic ITS sequence heterogeneity in four different pathogenic yeasts, which occurred exclusively in the ITS1 and ITS2 spacer regions for the six isolates in this study.

  8. Clinical history for diagnosis of dementia in men: Caerphilly Prospective Study

    PubMed Central

    Creavin, Sam; Fish, Mark; Gallacher, John; Bayer, Antony; Ben-Shlomo, Yoav

    2015-01-01

    Background Diagnosis of dementia often requires specialist referral and detailed, time-consuming assessments. Aim To investigate the utility of simple clinical items that non-specialist clinicians could use, in addition to routine practice, to diagnose all-cause dementia syndrome. Design and setting Cross-sectional diagnostic test accuracy study. Participants were identified from the electoral roll and general practice lists in Caerphilly and adjoining villages in South Wales, UK. Method Participants (1225 men aged 45–59 years) were screened for cognitive impairment using the Cambridge Cognitive Examination, CAMCOG, at phase 5 of the Caerphilly Prospective Study (CaPS). Index tests were a standardised clinical evaluation, neurological examination, and individual items on the Informant Questionnaire for Cognitive Disorders in the Elderly (IQCODE). Results Two-hundred and five men who screened positive (68%) and 45 (4.8%) who screened negative were seen, with 59 diagnosed with dementia. The model comprising problems with personal finance and planning had an area under the curve (AUC) of 0.92 (95% confidence interval [CI] = 0.86 to 0.97), positive likelihood ratio (LR+) of 23.7 (95% CI = 5.88 to 95.6), negative likelihood ratio (LR−) of 0.41 (95% CI = 0.27 to 0.62). The best single item for ruling out was no problems learning to use new gadgets (LR− of 0.22, 95% CI = 0.11 to 0.43). Conclusion This study found that three simple questions have high utility for diagnosing dementia in men who are cognitively screened. If confirmed, this could lead to less burdensome assessment where clinical assessment suggests possible dementia. PMID:26212844

  9. ESCMID and ECMM joint clinical guidelines for the diagnosis and management of mucormycosis 2013.

    PubMed

    Cornely, O A; Arikan-Akdagli, S; Dannaoui, E; Groll, A H; Lagrou, K; Chakrabarti, A; Lanternier, F; Pagano, L; Skiada, A; Akova, M; Arendrup, M C; Boekhout, T; Chowdhary, A; Cuenca-Estrella, M; Freiberger, T; Guinea, J; Guarro, J; de Hoog, S; Hope, W; Johnson, E; Kathuria, S; Lackner, M; Lass-Flörl, C; Lortholary, O; Meis, J F; Meletiadis, J; Muñoz, P; Richardson, M; Roilides, E; Tortorano, A M; Ullmann, A J; van Diepeningen, A; Verweij, P; Petrikkos, G

    2014-04-01

    These European Society for Clinical Microbiology and Infectious Diseases and European Confederation of Medical Mycology Joint Clinical Guidelines focus on the diagnosis and management of mucormycosis. Only a few of the numerous recommendations can be summarized here. To diagnose mucormycosis, direct microscopy preferably using optical brighteners, histopathology and culture are strongly recommended. Pathogen identification to species level by molecular methods and susceptibility testing are strongly recommended to establish epidemiological knowledge. The recommendation for guiding treatment based on MICs is supported only marginally. Imaging is strongly recommended to determine the extent of disease. To differentiate mucormycosis from aspergillosis in haematological malignancy and stem cell transplantation recipients, identification of the reverse halo sign on computed tomography is advised with moderate strength. For adults and children we strongly recommend surgical debridement in addition to immediate first-line antifungal treatment with liposomal or lipid-complex amphotericin B with a minimum dose of 5 mg/kg/day. Amphotericin B deoxycholate is better avoided because of severe adverse effects. For salvage treatment we strongly recommend posaconazole 4×200 mg/day. Reversal of predisposing conditions is strongly recommended, i.e. using granulocyte colony-stimulating factor in haematological patients with ongoing neutropenia, controlling hyperglycaemia and ketoacidosis in diabetic patients, and limiting glucocorticosteroids to the minimum dose required. We recommend against using deferasirox in haematological patients outside clinical trials, and marginally support a recommendation for deferasirox in diabetic patients. Hyperbaric oxygen is supported with marginal strength only. Finally, we strongly recommend continuing treatment until complete response demonstrated on imaging and permanent reversal of predisposing factors.

  10. Antemortem diagnosis of CDV infection by RT-PCR in distemper dogs with neurological deficits without the typical clinical presentation.

    PubMed

    Amude, A M; Alfieri, A A; Alfieri, A F

    2006-08-01

    In dogs with neurological disturbances without myoclonus and extraneural signs, the clinical diagnosis of distemper is difficult perform. Considering the great infectious potential of the disease, the possibility of carrying out an antemortem diagnosis of distemper is important, particularly in hospitalized patients with neurological disease. The present study was carried out to evaluate RT-PCR for antemortem CDV detection in hospitalized dogs with neurological disturbances without the typical findings of distemper. We investigated five dogs with canine distemper virus (CDV) encephalomyelitis, in which the clinical diagnosis was not performed owing to the absence of characteristic signs of the disease, such as myoclonus and systemic signs. We observed an apparent high sensitivity of RT-PCR in urine samples for detection of CDV: four out of five urine samples were RT-PCR positive. The results of the present study suggest that urine is a good biological sample for antemortem CDV detection by RT-PCR in dogs with distemper encephalomyelitis in which the clinical diagnosis is likely to be difficult owing to the absence of suggestive distemper signs. The use of two different body fluids (urine and CSF) may increase the RT-PCR sensitivity for antemortem diagnosis of distemper in such cases.

  11. Parent and teacher rating scales in the evaluation of attention-deficit hyperactivity disorder: contribution to diagnosis and differential diagnosis in clinically referred children.

    PubMed

    Tripp, Gail; Schaughency, Elizabeth A; Clarke, Bronwyn

    2006-06-01

    This study evaluated diagnostic utility of parent and teacher ratings in the attention-deficit hyperactivity disorder (ADHD) assessment and differential diagnosis of a clinical sample of children referred for suspected ADHD. Participants were 184 5- to 12-year-old children for whom the following were available: multimethod multi-informant assessment, firm decision regarding presence or absence of ADHD, and parent-completed Child Behavior Checklist and revised 48-item Conners Parent Rating Scale, and teacher-completed Teacher Report Form and 39-item Conners Teacher Rating Scale. Parent ratings of children diagnosed with and without ADHD were generally similar. In contrast, teachers rated students diagnosed with ADHD as displaying higher levels of behavioral difficulties. Discriminant function analyses indicated parent ratings of narrowband measures of ADHD and broadband measures of externalizing symptoms displayed high sensitivity. Teacher ratings outperformed parent ratings when considering sensitivity, specificity, and overall classification accuracy. For clinically recommended cut scores, teacher measures displayed good specificity and positive predictive power. Combining rating scales within informants. did not improve classification accuracy. Combining across parent and teacher measures produced results consistent with teacher ratings. Results support recommendations to include parent and teacher rating scales in ADHD assessment. Scales contributing most to classification accuracy were those designed to assess ADHD. Imperfect performance of rating scales supports recommendations to include other methodologies in diagnosis and differential diagnosis of ADHD.

  12. High IFIT1 expression predicts improved clinical outcome, and IFIT1 along with MGMT more accurately predicts prognosis in newly diagnosed glioblastoma.

    PubMed

    Zhang, Jin-Feng; Chen, Yao; Lin, Guo-Shi; Zhang, Jian-Dong; Tang, Wen-Long; Huang, Jian-Huang; Chen, Jin-Shou; Wang, Xing-Fu; Lin, Zhi-Xiong

    2016-06-01

    Interferon-induced protein with tetratricopeptide repeat 1 (IFIT1) plays a key role in growth suppression and apoptosis promotion in cancer cells. Interferon was reported to induce the expression of IFIT1 and inhibit the expression of O-6-methylguanine-DNA methyltransferase (MGMT).This study aimed to investigate the expression of IFIT1, the correlation between IFIT1 and MGMT, and their impact on the clinical outcome in newly diagnosed glioblastoma. The expression of IFIT1 and MGMT and their correlation were investigated in the tumor tissues from 70 patients with newly diagnosed glioblastoma. The effects on progression-free survival and overall survival were evaluated. Of 70 cases, 57 (81.4%) tissue samples showed high expression of IFIT1 by immunostaining. The χ(2) test indicated that the expression of IFIT1 and MGMT was negatively correlated (r = -0.288, P = .016). Univariate and multivariate analyses confirmed high IFIT1 expression as a favorable prognostic indicator for progression-free survival (P = .005 and .017) and overall survival (P = .001 and .001), respectively. Patients with 2 favorable factors (high IFIT1 and low MGMT) had an improved prognosis as compared with others. The results demonstrated significantly increased expression of IFIT1 in newly diagnosed glioblastoma tissue. The negative correlation between IFIT1 and MGMT expression may be triggered by interferon. High IFIT1 can be a predictive biomarker of favorable clinical outcome, and IFIT1 along with MGMT more accurately predicts prognosis in newly diagnosed glioblastoma.

  13. [On the importance of the "decision-making model" view of diagnosis as a clinical framework in psychiatry].

    PubMed

    Ota, T

    2000-01-01

    After the advent of DSM-III, operational diagnostic criteria, along with the classification of disorders using such criteria, received considerable attention, and many studies on the reliability and validity of psychiatric diagnosis were conducted worldwide. Operational methodology was applied to diagnosis and classification, especially, in the area of research, and has contributed greatly to advances in reliable and refined clinical research. Such methodology, however, has not necessarily been accepted as a guiding principle in the area of clinical practice by all psychiatrists. Rather, some psychiatrists, especially more experienced psychiatrists, took a somewhat negative attitude toward the use of operational methodology. The author contends that one of the causes for the relatively poor acceptance of operational methodology in the area of clinical practice lies in the "classification model" view of diagnosis that forms the implicit background for the methodology. From a clinical perspective, it is not from the "classification model" basis but rather, from the "decision-making model" basis that the actual process of clinical diagnosis in psychiatry is explained properly. This is a very important point, because the latter model is potentially more useful both to psychiatric patients and to researchers in psychiatry than the former model. There have been however, few reports in psychiatry that highlight the importance of this model as the clinical framework. The author analyzes the limitations of the "classification model" view, and then, based on this analysis, lists prerequisites that a model for the framework of clinical practice should possess. The prerequisites listed are: that clinical information not sufficient to meet the disease criteria should be used as effectively as possible, that diseases low in probability but high in seriousness should be considered by clinicians in the differential diagnoses; that diagnosis should be readily changed when necessary

  14. Reclassification of clinical sleep disorders using traditional models of syndromic, neuroanatomic, pathophysiological and etiological diagnosis.

    PubMed

    Spitzer, A Robert

    2014-09-01

    Existing classifications of central nervous system sleep disorders do not often provide tools to diagnose the majority of patients complaining of sleep-related symptoms, nor always guide effective treatment. I present a novel classification system that completely separates clinical syndromes from anatomical localization, pathophysiology, and etiology. The clinical syndrome I present can describe the majority of patients, but can be fractionated into individual subgroups for further study. By then separating the anatomy and physiology from the symptoms, an avenue of research becomes available to study the different possible structures that regulate sleep, that may be damaged and cause syndromes of sleep dysfunction. Some of these may produce symptoms that overlap with narcolepsy and some may be distinct. Because the clinical syndrome should be distinguished from anatomy or physiology, I have proposed the term narcoleptiform syndrome for the clinical syndrome. The model also clearly separates etiology from anatomy in a classical neurological manner. This allows etiology, localization and symptoms to be studied separately. It is likely that different etiologies may produce damage in areas that produce similar syndromes. For example, in this model, different causes of damage to the orexin nucleus would result in the same clinical syndrome. This reinforces the concept of studying anatomy, symptoms and etiology separately. By studying the relationship of syndromes or symptoms to anatomic localization and pathophysiology, it should be possible to test novel approaches to treatment based on different underlying structure or function. For example, patients with lesions in the ventrolateral preoptic nucleus or the thalamic intralaminar nuclei may both present with insomnia symptoms but need different treatment; or they might present with symptoms overlapping narcolepsy (a narcoleptiform syndrome) yet need different treatment. In some cases, a single treatment may cross over

  15. Clinical undernutrition in 2014; pathogenesis, early diagnosis and consequences; undernutrition and trophopathy.

    PubMed

    de Ulíbarri Pérez, José Ignacio

    2014-01-13

    amount of risks which could derive from an imbalanced nutritional status. The use of automated systems to predict and control the risk factors during the clinical phase makes it possible to have a more thorough control of the illness from its origins, allowing an early diagnosis and treatment of it.

  16. An international ISHLT/ATS/ERS clinical practice guideline: diagnosis and management of bronchiolitis obliterans syndrome.

    PubMed

    Meyer, Keith C; Raghu, Ganesh; Verleden, Geert M; Corris, Paul A; Aurora, Paul; Wilson, Kevin C; Brozek, Jan; Glanville, Allan R

    2014-12-01

    Bronchiolitis obliterans syndrome (BOS) is a major complication of lung transplantation that is associated with poor survival. The International Society for Heart and Lung Transplantation, American Thoracic Society, and European Respiratory Society convened a committee of international experts to describe and/or provide recommendations for 1) the definition of BOS, 2) the risk factors for developing BOS, 3) the diagnosis of BOS, and 4) the management and prevention of BOS. A pragmatic evidence synthesis was performed to identify all unique citations related to BOS published from 1980 through to March, 2013. The expert committee discussed the available research evidence upon which the updated definition of BOS, identified risk factors and recommendations are based. The committee followed the GRADE (Grading of Recommendation, Assessment, Development and Evaluation) approach to develop specific clinical recommendations. The term BOS should be used to describe a delayed allograft dysfunction with persistent decline in forced expiratory volume in 1 s that is not caused by other known and potentially reversible causes of post-transplant loss of lung function. The committee formulated specific recommendations about the use of systemic corticosteroids, cyclosporine, tacrolimus, azithromycin and about re-transplantation in patients with suspected and confirmed BOS. The diagnosis of BOS requires the careful exclusion of other post-transplant complications that can cause delayed lung allograft dysfunction, and several risk factors have been identified that have a significant association with the onset of BOS. Currently available therapies have not been proven to result in significant benefit in the prevention or treatment of BOS. Adequately designed and executed randomised controlled trials that properly measure and report all patient-important outcomes are needed to identify optimal therapies for established BOS and effective strategies for its prevention.

  17. Malignant mesothelioma in a cohort of asbestos insulation workers: clinical presentation, diagnosis, and causes of death.

    PubMed Central

    Ribak, J; Lilis, R; Suzuki, Y; Penner, L; Selikoff, I J

    1988-01-01

    Malignant mesothelioma has been rare in the general population. In recent decades its incidence has risen dramatically, parallel to the increasing use of asbestos in industry since 1930. Altogether 17,800 asbestos insulation workers, members of the International Association of Heat and Frost Insulators and Asbestos Workers (AFL-CIO-CLC) in the United States and Canada, were enrolled for prospective study on 1 January 1967 and followed up to the present. Every death that occurs is investigated by our laboratory. One hundred and seventy five deaths from mesothelioma occurred among the 2221 men who died in 1967-76 and 181 more such deaths in the next eight years. Altogether, 356 workers had died of malignant mesothelioma (pleural or peritoneal) by 1984. Diagnosis of mesothelioma was accepted only after all available clinical, radiological, and pathological material was reviewed by our laboratory and histopathological confirmation by the pathology unit made in each case. One hundred and thirty four workers died of pleural and 222 of peritoneal mesothelioma. Age at onset of exposure, age at onset of the disease, and age at death were similar in both groups of patients. Significant difference was noted only in the time elapsed from onset of exposure to the development of first symptoms, which was longer in the group with peritoneal mesothelioma. Shortness of breath, either new or recently increased, and chest pain were the most frequent presenting symptoms in the group with pleural mesothelioma; abdominal pain and distension were frequent in the patients with peritoneal mesothelioma. Pleural effusion or ascites were found in most patients. The most effective approach to the diagnosis of malignant pleural mesothelioma in these cases was by open lung biopsy; exploratory laparotomy was best for diagnosing peritoneal mesothelioma. Patients with pleural mesothelioma died principally from pulmonary insufficiency whereas those with peritoneal mesothelioma succumbed after a

  18. Impact of Fluoroquinolone Exposure Prior to Tuberculosis Diagnosis on Clinical Outcomes in Immunocompromised Patients.

    PubMed

    Lee, Ju Young; Lee, Hyun Jung; Kim, Yong Kyun; Yu, Shinae; Jung, Jiwon; Chong, Yong Pil; Lee, Sang-Oh; Choi, Sang-Ho; Shim, Tae Sun; Kim, Yang Soo; Woo, Jun Hee; Kim, Sung-Han

    2016-07-01

    There have been concerns about an association of fluoroquinolone (FQ) use prior to tuberculosis (TB) diagnosis with adverse outcomes. However, FQ use might prevent clinical deterioration in missed TB patients, especially in those who are immunocompromised, until they receive definitive anti-TB treatment. All adult immunocompromised patients with smear-negative and culture-positive TB at a tertiary care hospital in Korea over a 2-year period were included in this study. Long-term FQ (≥7 days) use was defined as exposure to FQ for at least 7 days prior to TB diagnosis. A total of 194 patients were identified: 33 (17%) in the long-term FQ group and 161 (83%) in the comparator, including a short-term FQ group (n = 23), non-FQ group (n = 78), and a group receiving no antibiotics (n = 60). Patients in the long-term FQ group presented with atypical chest radiologic pattern more frequently than those in the comparator (77% [24/31] versus 46% [63/138]; P = 0.001). The median time from mycobacterial test to positive mycobacterial culture appeared to be longer in the long-term FQ group (8.1 weeks versus 7.7 weeks; P = 0.09), although the difference was not statistically significant. Patients in the long-term FQ group were less likely to receive empirical anti-TB treatment (55% versus 74%; P = 0.03). The median time from mycobacterial test to anti-TB therapy was longer in the long-term FQ group (4.6 weeks versus 2.2 weeks; P < 0.001), but there was no significant difference in FQ resistance (0% versus 3%; P > 0.99) or in the 30-day (6% versus 6%; P > 0.99) or 90-day (12% versus 12%; P > 0.99) mortality rate between the two groups. FQ exposure (≥7 days) prior to TB diagnosis in immunocompromised patients appears not to be associated with adverse outcomes.

  19. Multicenter Pivotal Clinical Trial of Urine Malaria Test for Rapid Diagnosis of Plasmodium falciparum Malaria

    PubMed Central

    Ezeigwe, Nnenna; Ntadom, Godwin; Oladosu, Oladipo O.; Rainwater-Loveth, Kaitlin; O'Meara, Wendy; Okpokoro, Evaezi; Brieger, William

    2016-01-01

    ABSTRACT The need to expand malaria diagnosis capabilities alongside policy requirements for mandatory testing before treatment motivates exploration of noninvasive rapid diagnostic tests (RDTs). We report the outcome of the first cross-sectional, single-blind clinical performance evaluation of a urine malaria test (UMT) for diagnosis of Plasmodium falciparum malaria in febrile patients. Matched urine and finger-prick blood samples from participants ≥2 years of age with fever (axillary temperature of ≥37.5°C) or with a history of fever in the preceding 48 h were tested with UMT and microscopy (as the gold standard). BinaxNOW (Pf and Pan versions) blood RDTs were done to assess relative performance. Urinalysis and rheumatoid factor (RF) tests were conducted to evaluate possible interference. Diagnostic performance characteristics were computed at 95% confidence intervals (CIs). Of 1,800 participants screened, 1,691 were enrolled; of these 566 (34%) were febrile, and 1,125 (66%) were afebrile. Among enrolled participants, 341 (20%) tested positive by microscopy, 419 (25%) were positive by UMT, 676 (40%) were positive by BinaxNOW Pf, and 368 (22%) were positive by BinaxNow Pan. UMT sensitivity among febrile patients (for whom the test was indicated) was 85%, and specificity was 84%. Among febrile children ≤5 years of age, UMT sensitivity was 93%, and specificity was 83%. The area under the receiver-operator characteristic curve (AUC) of UMT (0.84) was not significantly different from that of BinaxNOW Pf (0.86) or of BinaxNOW Pan (0.87), indicating that the tests do not differ in overall performance. Gender, seasons, and RF did not impact UMT performance. Leukocytes, hematuria, and urobilinogen concentrations in urine were associated with lower UMT specificities. UMT performance was comparable to that of the BinaxNOW Pf/Pan tests, making UMT a promising tool to expand malaria testing in public and private health care settings where there are challenges to blood

  20. Essentiality of early diagnosis of molar incisor hypomineralization in children and review of its clinical presentation, etiology and management.

    PubMed

    Garg, Nishita; Jain, Abhay Kumar; Saha, Sonali; Singh, Jaspal

    2012-09-01

    Molar incisor hypomineralization (MIH) is a common developmental condition resulting in enamel defects in first permanent molars and permanent incisors. It presents at eruption of these teeth. One to four molars, and often also the incisors, could be affected. Since first recognized, the condition has been puzzling and interpreted as a distinct phenomenon unlike other enamel disturbances. Early diagnosis is essential since, rapid breakdown of tooth structure may occur, giving rise to acute symptoms and complicated treatment. The purpose of this article is to review MIH and illustrate its diagnosis and clinical management in young children. How to cite this article: Garg N, Jain AK, Saha S, Singh J. Essentiality of Early Diagnosis of Molar Incisor Hypomineralization in Children and Review of its Clinical Presentation, Etiology and Management. Int J Clin Pediatr Dent 2012;5(3):190-196.

  1. Essentiality of Early Diagnosis of Molar Incisor Hypomineralization in Children and Review of its Clinical Presentation, Etiology and Management

    PubMed Central

    Jain, Abhay Kumar; Saha, Sonali; Singh, Jaspal

    2012-01-01

    Abstract Molar incisor hypomineralization (MIH) is a common developmental condition resulting in enamel defects in first permanent molars and permanent incisors. It presents at eruption of these teeth. One to four molars, and often also the incisors, could be affected. Since first recognized, the condition has been puzzling and interpreted as a distinct phenomenon unlike other enamel disturbances. Early diagnosis is essential since, rapid breakdown of tooth structure may occur, giving rise to acute symptoms and complicated treatment. The purpose of this article is to review MIH and illustrate its diagnosis and clinical management in young children. How to cite this article: Garg N, Jain AK, Saha S, Singh J. Essentiality of Early Diagnosis of Molar Incisor Hypomineralization in Children and Review of its Clinical Presentation, Etiology and Management. Int J Clin Pediatr Dent 2012;5(3):190-196. PMID:25206166

  2. The Diagnosis of Personality Disorder: A Comparison of MMPI Profile, Millon Inventory, and Clinical Judgment in a Workers' Compensation Population.

    ERIC Educational Resources Information Center

    Repko, Glenn R.; Cooper, Robert

    1985-01-01

    Investigated information derived from a group of 100 workers' compensation cases and used clinical opinion and psychological testing to determine the presence and nature of personality disorder diagnosis. Significant differences were found on both the Minnesota Multiphasic Personality Inventory and the Millon among the diagnostic groups of…

  3. Attention-Deficit Hyperactivity Disorder: A Handbook for Diagnosis and Treatment [and] A Clinical Workbook. Second Edition.

    ERIC Educational Resources Information Center

    Barkley, Russell A.; Murphy, Kevin R.

    This handbook, with accompanying clinical workbook, provides information on the nature, diagnosis, assessment, and treatment of attention deficit hyperactivity disorder (ADHD). In-depth treatment guidelines are supported by updated documentation on outcomes. The book includes contributions from leading scientist-practitioners, who report on their…

  4. CBCL Clinical Scales Discriminate ADHD Youth with Structured-Interview Derived Diagnosis of Oppositional Defiant Disorder (ODD)

    ERIC Educational Resources Information Center

    Biederman, Joseph; Ball, Sarah W.; Monuteaux, Michael C.; Kaiser, Roselinde; Faraone, Stephen V.

    2008-01-01

    Objective: To evaluate the association between the clinical scales of the child behavior checklist (CBCL) and the comorbid diagnosis of oppositional defiant disorder (ODD) in a large sample of youth with attention deficit hyperactivity disorder (ADHD). Method: The sample consisted of 101 girls and 106 boys ages 6 to 17 with ADHD. Conditional…

  5. Accuracy of screening compression ultrasonography and clinical examination for the diagnosis of deep vein thrombosis after total hip or knee arthroplasty

    PubMed Central

    Robinson, K. Sue; Anderson, David R.; Gross, Michael; Petrie, David; Leighton, Ross; Stanish, William; Alexander, David; Mitchell, Michael; Mason, William; Flemming, Bruce; Fairhurst-Vaughan, Marlene; Gent, Michael

    1998-01-01

    Objective To determine whether compression ultrasonography or clinical examination should be considered as screening tests for the diagnosis of deep vein thrombosis (DVT) after total hip or knee arthroplasty in patients receiving warfarin prophylaxis postoperatively. Design A prospective cohort study. Setting A single tertiary care orthopedic centre. Patients One hundred and eleven patients who underwent elective total hip or knee arthroplasty were enrolled. Postoperatively the warfarin dose was adjusted daily to maintain the international normalized ratio between 1.8 and 2.5. Eighty-six patients successfully completed the study protocol. Intervention Before they were discharged from hospital, patients were assessed for DVT by clinical examination, bilateral compression ultrasonography of the proximal venous system and bilateral contrast venography. Results DVT was found in 29 patients (34%; 95% confidence interval [CI] 24% to 45%), and 6 patients (7%; 95% CI 3% to 15%) had proximal DVT. DVT developed in 18 (40%) of 45 patients who underwent total knee arthroplasty and in 11 (27%) of 41 patients who underwent total hip arthroplasty. The sensitivity of compression ultrasonography for the diagnosis of proximal DVT was 83% (95% CI 36% to 99%) and the specificity was 98% (95% CI 91% to 99%). The positive predictive value of compression ultrasonography was 71%. In contrast, clinical examination for DVT had a sensitivity of 11% (95% CI 2% to 28%) and a positive predictive value of 25%. Conclusions DVT is a common complication after total hip or knee arthroplasty. Compression ultrasonography appears to be a relatively accurate noninvasive test for diagnosing postoperative proximal DVT. In contrast, clinical examination is a very insensitive test. Whether routine use of screening compression ultrasonography will reduce the morbidity of venous thromboembolism after joint arthroplasty requires confirmation in a prospective trial involving long-term follow-up of patients

  6. APOE4 carriers and non-carriers with the clinical diagnosis of Alzheimer’s dementia and minimal amyloid plaques

    PubMed Central

    Monsell, Sarah E.; Kukull, Walter A.; Roher, Alex E.; Maarouf, Chera L.; Serrano, Geidy; Beach, Thomas G.; Caselli, Richard J.; Montine, Thomas J.; Reiman, Eric M.

    2016-01-01

    Importance Amyloid-β (Aβ) plaques are a cardinal neuropathological feature of Alzheimer’s disease (AD), yet over a third of apolipoprotein E ε4 (APOE4) non-carriers with the clinical diagnosis of mild-to-moderate Alzheimer’s dementia may not meet positron emission tomography (PET) criteria for significant cerebral amyloidosis. Objective This study sought to clarify the percentage of APOE4 carriers and non-carriers with the primary clinical diagnosis of mild-to-moderate Alzheimer’s dementia near the end of life and minimal Aβ plaques at autopsy—and the extent to which these cases are associated with appreciable neurofibrillary degeneration or a primary neuropathologic diagnosis other than AD. Design Participants in this study were obtained from the National Alzheimer’s Coordinating Center’s Uniform Data Set (UDS). Setting The UDS comprises longitudinal clinical assessments performed at the Alzheimer's Disease Centers funded by the National Institute on Aging. Neuropathology data is available for the subset of expired participants. Participants Exactly 100 APOE4 non-carriers and 100 carriers had the primary clinical diagnosis of mild-to-moderate Alzheimer’s dementia at their last visit, known APOE4 genotype, died within the ensuing 24 months, and underwent neuropathologic evaluation. Main Outcomes and Measures Standardized histopathologic assessments of Alzheimer’s disease neuropathologic changes were the primary measures of interest in this study, specifically CERAD neuritic plaque density score, diffuse plaque density score, and Braak stage for neurofibrillary degeneration. Results 37% of APOE4 non-carriers and 13% of carriers with the primary clinical diagnosis of mild-to-moderate Alzheimer’s dementia had nonexistent or sparse neuritic plaques. 44% of the carriers and non-carriers with minimal neuritic plaques had Braak stage III–VI ratings and 38% met neuropathological criteria for other dementia-related diseases. Conclusions and relevance

  7. Febrile urinary tract infections: clinical and laboratory diagnosis, imaging, and prognosis.

    PubMed

    Edefonti, Alberto; Tel, Francesca; Testa, Sara; De Palma, Diego

    2014-03-01

    According to the literature, febrile urinary tract infections (UTIs) are among the most common severe bacterial infections occurring in childhood, with potential serious long-term consequences. In recent years, there have been significant developments in our understanding of the pathophysiology and clinical and laboratory issues of febrile UTIs. Studies are focusing on the role of predisposing host factors related to genes regulating immune response, inflammation and fibrosis in the development of acute renal damage and subsequent processes leading to renal scars. All the available guidelines underline the importance of a correct diagnosis of febrile UTI to allow a more rational use of antibiotics and imaging. As a consequence, a shift from aggressive imaging studies to a more restrictive and targeted approach has been recently observed. Regarding the prognosis of febrile UTI, the introduction of prenatal ultrasound studies revealed that a great portion of the alterations at imaging (and thus of the clinical complications), previously attributed to postinfection scarring, were because of congenital kidney and urinary tract abnormalities. Although the long-term consequences of febrile UTIs are difficult to ascertain, it seems that children with febrile UTI, normal renal function and normal kidneys at start present a very low risk of developing decreased renal function or hypertension during follow-up. However, high body temperature and high procalcitonin levels during the acute phase of disease, which are indicative of severe inflammation, and the finding of renal scarring on imaging with DMSA scintigraphy 6 months after febrile UTI, together with the detection of congenital kidney and urinary tract abnormalities, indicate "kidney at risk" in UTI.

  8. Using experts feedback in clinical case resolution and arbitration as accuracy diagnosis methodology.

    PubMed

    Rodríguez-González, Alejandro; Torres-Niño, Javier; Valencia-Garcia, Rafael; Mayer, Miguel A; Alor-Hernandez, Giner

    2013-09-01

    This paper proposes a new methodology for assessing the efficiency of medical diagnostic systems and clinical decision support systems by using the feedback/opinions of medical experts. The methodology behind this work is based on a comparison between the expert feedback that has helped solve different clinical cases and the expert system that has evaluated these same cases. Once the results are returned, an arbitration process is carried out in order to ensure the correctness of the results provided by both methods. Once this process has been completed, the results are analyzed using Precision, Recall, Accuracy, Specificity and Matthews Correlation Coefficient (MCC) (PRAS-M) metrics. When the methodology is applied, the results obtained from a real diagnostic system allow researchers to establish the accuracy of the system based on objective facts. The methodology returns enough information to analyze the system's behavior for each disease in the knowledge base or across the entire knowledge base. It also returns data on the efficiency of the different assessors involved in the evaluation process, analyzing their behavior in the diagnostic process. The proposed work facilitates the evaluation of medical diagnostic systems, having a reliable process based on objective facts. The methodology presented in this research makes it possible to identify the main characteristics that define a medical diagnostic system and their values, allowing for system improvement. A good example of the results provided by the application of the methodology is shown in this paper. A diagnosis system was evaluated by means of this methodology, yielding positive results (statistically significant) when comparing the system with the assessors that participated in the evaluation process of the system through metrics such as recall (+27.54%) and MCC (+32.19%). These results demonstrate the real applicability of the methodology used.

  9. A survey of clinical practice patterns in diagnosis and management of Cushing's disease in Iran

    PubMed Central

    Malek, Mojtaba; Esfehanian, Fatemeh; Amouzegar, Atieh; Sarvghadi, Farzaneh; Moossavi, Zohreh; Mohajeri-Tehrani, Mohammad R.; Khamseh, Mohammad E.; Amirbaigloo, Alireza; Ebrahim Valojerdi, Ameneh

    2016-01-01

    Background: Cushing's disease is the most prevalent cause of endogenous adrenocorticotrophic hormone hypersecretion. The aim of this study was to document the current clinical practice pattern in the management of Cushing's disease by Iranian Endocrinologists to determine their opinions and compare them with the current clinical practice guidelines. Methods: An eight-item questionnaire dealing with diagnosis, treatment and follow up of patients with Cushing's disease was developed, piloted, and sent to the members of Iranian Endocrinology Society. Results: Among 90 endocrinologists invited to participate in the survey, 76 replied. Most respondents selected overnight dexamethasone suppression test (ONDST) and assessment of 24-hour urinary free cortisol (UFC) as the best screening tests followed by midnight serum cortisol and midnight salivary cortisol. Classic high dose dexamethasone suppression test and measurement of serum ACTH were selected for localization of the primary lesion by 64.5%. The primary choice of treatment was trans-sphenoidal pituitary surgery (86.8%). For the recurrence of Cushing's disease, the preferred treatment modality was medical therapy followed by bilateral adrenalectomy, and pituitary re-surgery. In case of treatment failure after the first pituitary surgery and ketoconazole treatment, 51% chose bilateral adrenalectomy, while36.8% selected pasireotide only. Conclusion: ONDST and UFC are two most common tests used to screen an index case with signs and symptoms of hypercortisolism. The primary choice of treatment in Cushing's disease is pituitary surgery. However, medical treatment by ketokonazol is preferred for the recurrences. Pasireotide is the second alternative after bilateral adrenalectomy in case of treatment failure after pituitary surgery and ketoconazole. PMID:27390704

  10. Congenital cytomegalovirus infection in pregnancy: a review of prevalence, clinical features, diagnosis and prevention.

    PubMed

    Naing, Zin W; Scott, Gillian M; Shand, Antonia; Hamilton, Stuart T; van Zuylen, Wendy J; Basha, James; Hall, Beverly; Craig, Maria E; Rawlinson, William D

    2016-02-01

    Human cytomegalovirus (CMV) is under-recognised, despite being the leading infectious cause of congenital malformation, affecting ~0.3% of Australian live births. Approximately 11% of infants born with congenital CMV infection are symptomatic, resulting in clinical manifestations, including jaundice, hepatosplenomegaly, petechiae, microcephaly, intrauterine growth restriction and death. Congenital CMV infection may cause severe long-term sequelae, including progressive sensorineural hearing loss and developmental delay in 40-58% of symptomatic neonates, and ~14% of initially asymptomatic infected neonates. Up to 50% of maternal CMV infections have nonspecific clinical manifestations, and most remain undetected unless specific serological testing is undertaken. The combination of serology tests for CMV-specific IgM, IgG and IgG avidity provide improved distinction between primary and secondary maternal infections. In pregnancies with confirmed primary maternal CMV infection, amniocentesis with CMV-PCR performed on amniotic fluid, undertaken after 21-22 weeks gestation, may determine whether maternofetal virus transmission has occurred. Ultrasound and, to a lesser extent, magnetic resonance imaging are valuable tools to assess fetal structural and growth abnormalities, although the absence of fetal abnormalities does not exclude fetal damage. Diagnosis of congenital CMV infection at birth or in the first 3 weeks of an infant's life is crucial, as this should prompt interventions for prevention of delayed-onset hearing loss and neurodevelopmental delay in affected infants. Prevention strategies should also target mothers because increased awareness and hygiene measures may reduce maternal infection. Recognition of the importance of CMV in pregnancy and in neonates is increasingly needed, particularly as therapeutic and preventive interventions expand for this serious problem.

  11. [Pathophysiology, epidemiology, clinical presentation, diagnosis and treatment options for autosomal dominant polycystic kidney disease].

    PubMed

    Noël, Natacha; Rieu, Philippe

    2015-07-01

    Autosomal dominant polycystic kidney disease (ADPKD) is the leading genetic cause of end-stage renal disease (ESRD) worldwide. Its prevalence is evaluated according to studies and population between 1/1000 and 1/4000 live births and it accounts for 6 to 8% of incident ESRD patients in developed countries. ADPKD is characterized by numerous cysts in both kidneys and various extrarenal manifestations that are detailed in this review. Clinico-radiological and genetic diagnosis are also discussed. Mutations in the PKD1 and PKD2 codifying for polycystin-1 (PC-1) and polycystin-2 (PC-2) are responsible for the 85 and 15% of ADPKD cases, respectively. In primary cilia of normal kidney epithelial cells, PC-1 and PC-2 interact forming a complex involved in flow- and cilia-dependant signalling pathways where intracellular calcium and cAMP play a central role. Alteration of these multiple signal transduction pathways leads to cystogenesis accompanied by dysregulated planar cell polarity, excessive cell proliferation and fluid secretion, and pathogenic interactions of epithelial cells with an abnormal extracellular matrix. The mass effect of expanding cyst is responsible for the decline in glomerular filtration rate that occurs late in the course of the disease. For many decades, the treatment for ADPKD aims to lessen the condition's symptoms, limit kidney damage, and prevent complications. Recently, the development of promising specific treatment raises the hope to slow the growth of cysts and delay the disease. Treatment strategies targeting cAMP signalling such as vasopressin receptor antagonists or somatostatin analogs have been tested successfully in clinical trials with relative safety. Newer treatments supported by preclinical trials will become available in the next future. Recognizing early markers of renal progression (clinical, imaging, and genetic markers) to identify high-risk patients and multidrug approaches with synergistic effects may provide new opportunities

  12. Information given to cancer patients on diagnosis, prognosis and treatment: the clinical oncologist's perspective.

    PubMed

    Belvedere, Ornella; Minisini, Alessandro; Ramello, Monica; Sobrero, Alberto; Grossi, Francesco

    2004-08-01

    The extent of information to cancer patients is, in general, culture-dependent. Information mainly refers to three aspects, namely diagnosis (Dx), prognosis (Px) and treatment (Rx), but the relative contribution of each domain to the information given overall is not available. To address this issue, we e-mailed a questionnaire to 9893 members of the American Society of Clinical Oncology (ASCO) asking whether they agree that information about Dx, Px and Rx contribute differently to the information given to the cancer patient overall and, if so, to what extent, both in the adjuvant and advanced settings. 857 questionnaires were evaluable. There was no statistically significant difference between the contribution of these 3 domains in the adjuvant setting (33%, 34% and 33%, respectively). In subgroup analysis, medical oncologists and haematologists attributed a significantly higher contribution of Px information compared with other specialists (P < 0.05). In the advanced setting, respondents estimated a higher contribution of Px (41%) to patient information overall compared with Dx and Rx (28% and 31%, respectively; P < 0.05). This finding was more pronounced in North America than in Europe (P < 0.0001), and in Germanic-language than in Romance-language countries (P = 0.005). In conclusion, information on Dx, Px and Rx are believed to contribute differently to the information delivered to cancer patients overall, depending on the stage of disease, the cultural environment and the specialty of the physician.

  13. Immune-mediated and autoimmune myocarditis: clinical presentation, diagnosis and management.

    PubMed

    Caforio, Alida L P; Marcolongo, Renzo; Jahns, Roland; Fu, Michael; Felix, Stephan B; Iliceto, S

    2013-11-01

    According to the current WHO classification of cardiomyopathies, myocarditis is an inflammatory disease of the myocardium and is diagnosed by endomyocardial biopsy using established histological, immunological and immunohistochemical criteria; it may be idiopathic, infectious or autoimmune and may heal or lead to dilated cardiomyopathy (DCM). DCM is characterized by dilatation and impaired contraction of the left or both ventricles; it may be idiopathic, familial/genetic, viral and/or immune. The diagnosis of DCM requires exclusion of known, specific causes of heart failure, including coronary artery disease. On endomyocardial biopsy, there is myocyte loss, compensatory hypertrophy, fibrous tissue and immunohistochemical findings consistent with chronic inflammation (myocarditis) in 30-40 % of cases. In a patient subset, myocarditis and DCM represent the acute and chronic stages of an inflammatory disease of the myocardium, which can be viral, post-infectious immune or primarily organ-specific autoimmune. Here, we review the clinical presentation, etiopathogenetic diagnostic criteria, and management of immune-mediated and autoimmune myocarditis.

  14. [Clinical guidelines for the diagnosis and treatment of chronic thromboembolic pulmonary hypertension (Part 2)].

    PubMed

    Chazova, I E; Martynyuk, T V

    The paper gives current approaches to treating chronic thromboembolic pulmonary hypertension (CTEPH) from the document «Federal Guidelines for the Diagnosis and Treatment of CTEPH» approved at the Third Russian Congress on Pulmonary Hypertension on December 11, 2015. The guidelines had been elaborated to optimize the treatment of patients with CTEPH on the basis of an analysis of the data of the present-day registries and multicenter randomized clinical trials, national and international guidelines and consensus documents, and documents published in recent years. CTEPH is a unique form of pulmonary hypertension since it is potentially curable by surgical treatment. The paper presents indications for and contraindications to pulmonary thromboendartectomy; preparation for surgery; operating room facilities; the specific features of postoperative management and possible complications; and long-term RESULTS: In terms of therapy, in addition to non-pharmacological measures, the authors discuss maintenance and specific treatment options for CTEPH, balloon pulmonary angioplasty, and lung/heart-lung transplantation. In conclusion they propose a management algorithm in patients with CTEPH and requirements for its problem to the center of experts.

  15. A case-control study of the clinical diagnosis and course of Lassa fever.

    PubMed

    McCormick, J B; King, I J; Webb, P A; Johnson, K M; O'Sullivan, R; Smith, E S; Trippel, S; Tong, T C

    1987-03-01

    A prospective case-control study of Lassa fever was established in Sierra Leone to measure the frequency and case-fatality ratio of Lassa fever among febrile hospital admissions and to better delineate the clinical diagnosis and course of this disease. Lassa fever was responsible for 10%-16% of all adult medical admissions and for approximately 30% of adult deaths in the two hospitals studied. The case-fatality ratio for 441 hospitalized patients was 16.5%. We found the best predictor of Lassa fever to be the combination of fever, pharyngitis, retrosternal pain, and proteinuria (predictive value together, .81); of outcome, the best predictor was the combination of fever, sore throat, and vomiting (relative risk of death, 5.5). Complications included mucosal bleeding (17%), bilateral or unilateral eighth-nerve deafness (4%), and pleural (3%) or pericardial (2%) effusion. Lassa fever is endemic in this area and is a more-common cause of hospital admission and death than has previously been described; this disease must be considered when diagnosing febrile illness in West Africa.

  16. Clinical implications of miRNAs in the pathogenesis, diagnosis and therapy of pancreatic cancer.

    PubMed

    Rachagani, Satyanarayana; Macha, Muzafar A; Heimann, Nicholas; Seshacharyulu, Parthasarathy; Haridas, Dhanya; Chugh, Seema; Batra, Surinder K

    2015-01-01

    Despite considerable progress being made in understanding pancreatic cancer (PC) pathogenesis, it still remains the 10th most often diagnosed malignancy in the world and 4th leading cause of cancer related deaths in the United States with a five year survival rate of only 6%. The aggressive nature, lack of early diagnostic and prognostic markers, late clinical presentation, and limited efficacy of existing treatment regimens make PC a lethal cancer with high mortality and poor prognosis. Therefore, novel reliable biomarkers and molecular targets are urgently needed to combat this deadly disease. MicroRNAs (miRNAs) are short (19-24 nucleotides) non-coding RNA molecules implicated in the regulation of gene expression at post-transcriptional level and play significant roles in various physiological and pathological conditions. Aberrant expression of miRNAs has been reported in several cancers including PC and is implicated in PC pathogenesis and progression, suggesting their utility in diagnosis, prognosis and therapy. In this review, we summarize the role of several miRNAs that regulate various oncogenes (KRAS) and tumor suppressor genes (p53, p16, SMAD4, etc.) involved in PC development, their prospective roles as diagnostic and prognostic markers and as a therapeutic targets.

  17. An InN/InGaN Quantum Dot Electrochemical Biosensor for Clinical Diagnosis

    PubMed Central

    Alvi, Naveed ul Hassan; Gómez, Victor J.; Rodriguez, Paul E.D. Soto; Kumar, Praveen; Zaman, Saima; Willander, Magnus; Nötzel, Richard

    2013-01-01

    Low-dimensional InN/InGaN quantum dots (QDs) are demonstrated for realizing highly sensitive and efficient potentiometric biosensors owing to their unique electronic properties. The InN QDs are biochemically functionalized. The fabricated biosensor exhibits high sensitivity of 97 mV/decade with fast output response within two seconds for the detection of cholesterol in the logarithmic concentration range of 1 × 10−6 M to 1 × 10−3 M. The selectivity and reusability of the biosensor are excellent and it shows negligible response to common interferents such as uric acid and ascorbic acid. We also compare the biosensing properties of the InN QDs with those of an InN thin film having the same surface properties, i.e., high density of surface donor states, but different morphology and electronic properties. The sensitivity of the InN QDs-based biosensor is twice that of the InN thin film-based biosensor, the EMF is three times larger, and the response time is five times shorter. A bare InGaN layer does not produce a stable response. Hence, the superior biosensing properties of the InN QDs are governed by their unique surface properties together with the zero-dimensional electronic properties. Altogether, the InN QDs-based biosensor reveals great potential for clinical diagnosis applications. PMID:24132228

  18. Sex Differences in Diagnosis and Clinical Phenotypes of Chinese Children with Autism Spectrum Disorder.

    PubMed

    Wang, Shihuan; Deng, Hongzhu; You, Cong; Chen, Kaiyun; Li, Jianying; Tang, Chun; Ceng, Chaoqun; Zou, Yuanyuan; Zou, Xiaobing

    2017-04-01

    The aim of this study was to explore the differences between boys and girls in the diagnosis and clinical phenotypes of autism spectrum disorder (ASD) in China's mainland. Children diagnosed with ASD (n = 1064, 228 females) were retrospectively included in the analysis. All children were assessed using the Autism Diagnostic Interview-Revised (ADI-R) and Autism Diagnostic Observation Schedule (ADOS). The results showed that girls scored significantly higher in ADI-R socio-emotional reciprocity than boys, and also scored lower in ADI-R and ADOS restricted and repetitive behaviors (RRBs). Meanwhile, the proportions of girls who satisfied the diagnostic cut-off scores in the ADI-R RRBs domain were lower than in boys (P < 0.05). Our results indicated that girls with ASD show greater socio-emotional reciprocity than boys. Girls also tended to show fewer RRBs than boys, and the type of RRBs in girls differ from those in boys. The ADI-R was found to be less sensitive in girls, particularly for assessment in the RRBs domain.

  19. Epidemiology, Clinical Presentation, Laboratory Diagnosis, Antimicrobial Resistance, and Antimicrobial Management of Invasive Salmonella Infections

    PubMed Central

    Sjölund-Karlsson, Maria; Gordon, Melita A.; Parry, Christopher M.

    2015-01-01

    SUMMARY Salmonella enterica infections are common causes of bloodstream infection in low-resource areas, where they may be difficult to distinguish from other febrile illnesses and may be associated with a high case fatality ratio. Microbiologic culture of blood or bone marrow remains the mainstay of laboratory diagnosis. Antimicrobial resistance has emerged in Salmonella enterica, initially to the traditional first-line drugs chloramphenicol, ampicillin, and trimethoprim-sulfamethoxazole. Decreased fluoroquinolone susceptibility and then fluoroquinolone resistance have developed in association with chromosomal mutations in the quinolone resistance-determining region of genes encoding DNA gyrase and topoisomerase IV and also by plasmid-mediated resistance mechanisms. Resistance to extended-spectrum cephalosporins has occurred more often in nontyphoidal than in typhoidal Salmonella strains. Azithromycin is effective for the management of uncomplicated typhoid fever and may serve as an alternative oral drug in areas where fluoroquinolone resistance is common. In 2013, CLSI lowered the ciprofloxacin susceptibility breakpoints to account for accumulating clinical, microbiologic, and pharmacokinetic-pharmacodynamic data suggesting that revision was needed for contemporary invasive Salmonella infections. Newly established CLSI guidelines for azithromycin and Salmonella enterica serovar Typhi were published in CLSI document M100 in 2015. PMID:26180063

  20. Clinical study of quantitative diagnosis of early cervical cancer based on the classification of acetowhitening kinetics

    NASA Astrophysics Data System (ADS)

    Wu, Tao; Cheung, Tak-Hong; Yim, So-Fan; Qu, Jianan Y.

    2010-03-01

    A quantitative colposcopic imaging system for the diagnosis of early cervical cancer is evaluated in a clinical study. This imaging technology based on 3-D active stereo vision and motion tracking extracts diagnostic information from the kinetics of acetowhitening process measured from the cervix of human subjects in vivo. Acetowhitening kinetics measured from 137 cervical sites of 57 subjects are analyzed and classified using multivariate statistical algorithms. Cross-validation methods are used to evaluate the performance of the diagnostic algorithms. The results show that an algorithm for screening precancer produced 95% sensitivity (SE) and 96% specificity (SP) for discriminating normal and human papillomavirus (HPV)-infected tissues from cervical intraepithelial neoplasia (CIN) lesions. For a diagnostic algorithm, 91% SE and 90% SP are achieved for discriminating normal tissue, HPV infected tissue, and low-grade CIN lesions from high-grade CIN lesions. The results demonstrate that the quantitative colposcopic imaging system could provide objective screening and diagnostic information for early detection of cervical cancer.

  1. Clinical implications of miRNAs in the pathogenesis, diagnosis and therapy of pancreatic cancer

    PubMed Central

    Rachagani, Satyanarayana; Macha, Muzafar A.; Heimann, Nicholas; Seshacharyulu, Parthasarathy; Haridas, Dhanya; Chugh, Seema; Batra, Surinder K.

    2014-01-01

    Despite considerable progress being made in understanding pancreatic cancer (PC) pathogenesis, it still remains the 10th most often diagnosed malignancy in the world and 4th leading cause of cancer related deaths in the United States with a five year survival rate of only 6%. The aggressive nature, lack of early diagnostic and prognostic markers, late clinical presentation, and limited efficacy of existing treatment regimens makes PC a lethal cancer with high mortality and poor prognosis. Therefore, novel reliable biomarkers and molecular targets are urgently needed to combat this deadly disease. MicroRNAs (miRNAs) are short (19–24 nucleotides) non-coding RNA molecules implicated in the regulation of gene expression at post-transcriptional level and play significant roles in various physiological and pathological conditions. Aberrant expression of miRNAs has been reported in several cancers including PC and is implicated in PC pathogenesis and progression, suggesting their utility in diagnosis, prognosis and therapy. In this review, we summarize the role of several miRNAs that regulate various oncogenes (KRAS) and tumor suppressor genes (p53, p16, SMAD4 etc) involved in PC development, their prospective roles as diagnostic and prognostic markers and their therapeutic targets. PMID:25453266

  2. Hepatitis E Virus Genotype 3 in Colombia: Survey in Patients with Clinical Diagnosis of Viral Hepatitis

    PubMed Central

    Rendon, Julio; Hoyos, Maria Cristina; di Filippo, Diana; Cortes-Mancera, Fabian; Mantilla, Carolina; Velasquez, Maria Mercedes; Sepulveda, Maria Elsy; Restrepo, Juan Carlos; Jaramillo, Sergio; Arbelaez, Maria Patricia; Correa, Gonzalo; Navas, Maria-Cristina

    2016-01-01

    Background Hepatitis E virus is a major cause of outbreaks as well as sporadic hepatitis cases worldwide. The epidemiology of this enterically transmitted infection differs between developing and developed countries. The aims of this study were to describe HEV infection in Colombian patients and to characterize the genotype. Methods A prospective study was carried out on 40 patients aged over 15 with a clinical diagnosis of viral hepatitis, recruited from five primary health units in the city of Medellin, Colombia. Fecal samples obtained from the 40 consecutives cases were analyzed for HEV RNA using nested reverse transcription PCR for both ORF1 and ORF2-3. The amplicons were sequenced for phylogenetic analyses. Results Nine (22.5%) cases of HEV infection were identified in the study population. Three HEV strains obtained from patients were classified as genotype 3. No significant association was found between cases of Hepatitis E and the variables water drinking source, garbage collection system and contact with pigs. Conclusions This is the first prospective study of hepatitis E in Colombian patients. The circulation of the genotype 3 in this population is predictable considering the reports of the region and the identification of this genotype from pigs in the state of Antioquia, of which Medellin is the capital. Further studies are necessary to establish whether zoonotic transmission of HEV is important in Colombia. PMID:26886728

  3. Epidemiology, Clinical Presentation, Laboratory Diagnosis, Antimicrobial Resistance, and Antimicrobial Management of Invasive Salmonella Infections.

    PubMed

    Crump, John A; Sjölund-Karlsson, Maria; Gordon, Melita A; Parry, Christopher M

    2015-10-01

    Salmonella enterica infections are common causes of bloodstream infection in low-resource areas, where they may be difficult to distinguish from other febrile illnesses and may be associated with a high case fatality ratio. Microbiologic culture of blood or bone marrow remains the mainstay of laboratory diagnosis. Antimicrobial resistance has emerged in Salmonella enterica, initially to the traditional first-line drugs chloramphenicol, ampicillin, and trimethoprim-sulfamethoxazole. Decreased fluoroquinolone susceptibility and then fluoroquinolone resistance have developed in association with chromosomal mutations in the quinolone resistance-determining region of genes encoding DNA gyrase and topoisomerase IV and also by plasmid-mediated resistance mechanisms. Resistance to extended-spectrum cephalosporins has occurred more often in nontyphoidal than in typhoidal Salmonella strains. Azithromycin is effective for the management of uncomplicated typhoid fever and may serve as an alternative oral drug in areas where fluoroquinolone resistance is common. In 2013, CLSI lowered the ciprofloxacin susceptibility breakpoints to account for accumulating clinical, microbiologic, and pharmacokinetic-pharmacodynamic data suggesting that revision was needed for contemporary invasive Salmonella infections. Newly established CLSI guidelines for azithromycin and S