A common presentation to an uncommon disease. Penile Mondor's disease: a case report and literature review.

PubMed

Walsh, John C; Poimboeuf, Sabré; Garvin, Daniel S

2014-01-01

Penile Mondor's disease, or superficial thrombophlebitis of the dorsal vein of the penis, is a relatively uncommon but potentially anxiety-inducing self-limiting condition that should be easily recognizable by any primary care practitioner. It typically presents with a cord-like mass and pain to the dorsal penis and has a myriad of causes, including trauma, excessive sexual activity, excessive exercise, or malignancy. Although Penile Mondor's disease is typically a clinical diagnosis, Doppler ultrasound is the initial imaging modality of choice if there is question or doubt about the diagnosis. Accurate diagnosis and reassurance about the condition's benign and self-limiting nature assuages most patients' fears. Treatment is primarily symptomatic but may vary depending on possible underlying disease processes.

Direct volume estimation without segmentation

NASA Astrophysics Data System (ADS)

Zhen, X.; Wang, Z.; Islam, A.; Bhaduri, M.; Chan, I.; Li, S.

2015-03-01

Volume estimation plays an important role in clinical diagnosis. For example, cardiac ventricular volumes including left ventricle (LV) and right ventricle (RV) are important clinical indicators of cardiac functions. Accurate and automatic estimation of the ventricular volumes is essential to the assessment of cardiac functions and diagnosis of heart diseases. Conventional methods are dependent on an intermediate segmentation step which is obtained either manually or automatically. However, manual segmentation is extremely time-consuming, subjective and highly non-reproducible; automatic segmentation is still challenging, computationally expensive, and completely unsolved for the RV. Towards accurate and efficient direct volume estimation, our group has been researching on learning based methods without segmentation by leveraging state-of-the-art machine learning techniques. Our direct estimation methods remove the accessional step of segmentation and can naturally deal with various volume estimation tasks. Moreover, they are extremely flexible to be used for volume estimation of either joint bi-ventricles (LV and RV) or individual LV/RV. We comparatively study the performance of direct methods on cardiac ventricular volume estimation by comparing with segmentation based methods. Experimental results show that direct estimation methods provide more accurate estimation of cardiac ventricular volumes than segmentation based methods. This indicates that direct estimation methods not only provide a convenient and mature clinical tool for cardiac volume estimation but also enables diagnosis of cardiac diseases to be conducted in a more efficient and reliable way.

Lung tumor diagnosis and subtype discovery by gene expression profiling.

PubMed

Wang, Lu-yong; Tu, Zhuowen

2006-01-01

The optimal treatment of patients with complex diseases, such as cancers, depends on the accurate diagnosis by using a combination of clinical and histopathological data. In many scenarios, it becomes tremendously difficult because of the limitations in clinical presentation and histopathology. To accurate diagnose complex diseases, the molecular classification based on gene or protein expression profiles are indispensable for modern medicine. Moreover, many heterogeneous diseases consist of various potential subtypes in molecular basis and differ remarkably in their response to therapies. It is critical to accurate predict subgroup on disease gene expression profiles. More fundamental knowledge of the molecular basis and classification of disease could aid in the prediction of patient outcome, the informed selection of therapies, and identification of novel molecular targets for therapy. In this paper, we propose a new disease diagnostic method, probabilistic boosting tree (PB tree) method, on gene expression profiles of lung tumors. It enables accurate disease classification and subtype discovery in disease. It automatically constructs a tree in which each node combines a number of weak classifiers into a strong classifier. Also, subtype discovery is naturally embedded in the learning process. Our algorithm achieves excellent diagnostic performance, and meanwhile it is capable of detecting the disease subtype based on gene expression profile.

Psychiatric and addiction consultation for patients in critical care.

PubMed

Kaiser, Susan

2012-03-01

Practicing within the paradigm of compartmentalized specially treatment without a collaborative practice is ineffective for the chemical dependency and dual diagnosis population. Chemical dependency is not well understood as a disease, evidenced by barriers cited from the 2005 Survey on Drug Use and Health. Recovery from addiction and dual diagnosis logically demands an integrated and science-based treatment approach with unified standards for care and improved educational standards for preparation of care providers. Consultation and collaboration with addiction and psychiatric specialists is needed to establish consistency in standards for treatment and holistic care, essential for comorbidity. Continued learning and research about the complexity of the addiction process and comorbidity will provide continued accurate information about the harmful effects of alcoholism and drug abuse which in turn will empower individuals to make informed choices and result in better treatment and social policies.

Congenital esophageal stenosis: a rare case of dysphagia

PubMed Central

Serrao, Eva; Santos, Alexandra; Gaivao, Ana; Tavares, Ana; Ferreira, Sergio

2010-01-01

Congenital esophageal stenosis (CES) is a rare anomaly, resulting from incomplete separation of the respiratory tract from the primitive foregut at the 25th day of life. First clinical signs are abnormalities of the swallowing mechanism caused by the intrinsic narrowing of the esophagus. Diagnosis is usually delayed, requiring an accurate history and high level of suspicion, alongside with an esophagogram. Definite diagnosis is only confirmed by histological examination. Treatment usually involves surgery, depending on the severity, location and type of stenosis. We report the case of an 18 months old toddler diagnosed with CES. The characteristic radiographic and CT features are presented as well as the histology. PMID:22470735

Evaluation of sensitivity and specificity of cytologic examination: 269 cases (1999-2000).

PubMed

Cohen, Michele; Bohling, Mark W; Wright, James C; Welles, Elizabeth A; Spano, Joseph S

2003-04-01

To determine sensitivity and specificity of cytologic examination used in a clinical setting. Retrospective study. 216 dogs, 44 cats, 4 horses, 2 ferrets, 1 llama, 1 rat, and 1 mouse. Records were reviewed of cases in which a cytologic diagnosis was followed by a surgical biopsy or postmortem examination within 3 days with subsequent histopathologic diagnosis. Diagnoses were compared for agreement at various levels, including complete agreement, partial agreement, no agreement, or no comparison possible because of insufficient or incorrect cytologic specimen. Levels of agreement were compared for different categories of lesions, including neoplastic, inflammatory, dysplastic-hyperplastic-other, and normal tissue. Additionally, levels of agreement for neoplastic lesions were categorized with regard to cell type, degree of malignancy, and location. Sensitivity and specificity of cytologic examination were calculated. At the level of general agreement (complete and partial agreement), the sensitivity of cytologic examination ranged from 33.3 to 66.1%, depending on the location of the lesion. Cytologic examination was most accurate when used to diagnose cutaneous and subcutaneous lesions and least accurate for diagnosis of liver lesions. Cytologic examination was most effective in diagnosis of neoplastic disease and least effective in diagnosis of dysplastic or hyperplastic conditions. Cytologic examination is a valuable diagnostic tool, although our results indicated lower accuracy than previously reported. False-negative results (missing a diagnosis) were far more common than false-positive results (categorizing a healthy animal as diseased): therefore, if the clinical index of suspicion is high, cytologic examination should be repeated or another technique should be selected to rule out the suspected condition.

Learning vector quantization neural networks improve accuracy of transcranial color-coded duplex sonography in detection of middle cerebral artery spasm--preliminary report.

PubMed

Swiercz, Miroslaw; Kochanowicz, Jan; Weigele, John; Hurst, Robert; Liebeskind, David S; Mariak, Zenon; Melhem, Elias R; Krejza, Jaroslaw

2008-01-01

To determine the performance of an artificial neural network in transcranial color-coded duplex sonography (TCCS) diagnosis of middle cerebral artery (MCA) spasm. TCCS was prospectively acquired within 2 h prior to routine cerebral angiography in 100 consecutive patients (54M:46F, median age 50 years). Angiographic MCA vasospasm was classified as mild (<25% of vessel caliber reduction), moderate (25-50%), or severe (>50%). A Learning Vector Quantization neural network classified MCA spasm based on TCCS peak-systolic, mean, and end-diastolic velocity data. During a four-class discrimination task, accurate classification by the network ranged from 64.9% to 72.3%, depending on the number of neurons in the Kohonen layer. Accurate classification of vasospasm ranged from 79.6% to 87.6%, with an accuracy of 84.7% to 92.1% for the detection of moderate-to-severe vasospasm. An artificial neural network may increase the accuracy of TCCS in diagnosis of MCA spasm.

The role of skin and muscle biopsy in the diagnosis of main connective tissue diseases.

PubMed

Firulescu, Sineta Cristina; Tudoraşcu, Diana Rodica; Pârvănescu, Cristina Dorina; Chisălău, Andreea Beatrice; Bastian, Alexandra Eugenia; Efrem, Ion Cristian; Bărbulescu, Andreea Lili; Forţofoiu, Mircea Cătălin; Criveanu, Cristina; Ionescu, Petronela; Dinescu, Ştefan Cristian; Tudorancea, Andreea Daniela; Ciurea, Paulina Lucia; Vreju, Ananu Florentin

2018-01-01

Systemic involvement in autoimmune diseases is often unclear and organ changes are confounding, thus making it difficult to have an early accurate diagnosis. In those situations, both clinical and paraclinical findings might orientate the diagnosis, but only histological or immunohistochemistry changes might be accurate enough. The skin histological changes are relevant and sometimes might have a tremendous role in the accurate diagnosis of autoimmune rheumatic diseases, due to the correlation with the clinical systemic manifestations of the diseases and through the accessibility of biopsy. In the same time, muscle biopsy can provide important support for physicians improving diagnosis and optimizing management of connective tissue diseases.

[Typology and systematization of residual mental disorders in alcohol dependence].

PubMed

Klimenko, T V; Agafonova, S S

2007-01-01

The study of 85 patients with alcohol dependence appointed to forensic psychiatric expertise in the Serbsky research center of social and forensic psychiatry revealed the manifestation of polymorphic psychiatric and behavioral disorders (ICD-10 diagnosis F10.7--residual and late-onset psychotic disorders) after stopping the intoxication, withdrawal and post-withdralwal disorders. Taking into account the multifactor etiology of psychiatric disorders which are observed after ending of the direct effect of alcohol, a possibility of including other ICD-10 items to extend their diagnostics and thus provide the more accurate clinical verification of these states, is discussed.

Development and validation of a real time PCR for the detection of myxoma virus based on the diploid gene M000.5L/R.

PubMed

Duarte, Margarida Dias; Barros, Sílvia Carla; Henriques, Ana Margarida; Fagulha, Maria Teresa; Ramos, Fernanda; Luís, Tiago; Fevereiro, Miguel

2014-02-01

The myxoma virus (MYXV) causes severe infections in European rabbits that may reach mortality rates up to 100% depending on the viral strain. The typical symptoms and lesions induced by the virus are usually enough to permit the correct clinical diagnosis. However, in peracute forms the infection may be accompanied by unspecific symptoms. Sudden death may also occur without evident clinical signs of myxomatosis. Likewise, a clinical diagnosis of atypical forms of myxomatosis (amyxomatous) is often complicated and delayed due to the scarceness of skin lesions. As the disease control often depends on an early and unequivocal diagnosis of MYXV, laboratorial methods play a relevant role in the confirmation of MYXV infection. This study describes the development and validation of a novel, high accurate real time polymerase chain reaction assay (rtPCR) for the detection of MYXV. Primers were designed to amplify a 125-bp within the gene M000.5L/R, which is duplicated in the termini of the genome and is unique among Leporipoxvirus. The assay was negative for SFV and other poxviruses and was able to detect 2.6 copies of MYXV DNA proving the effectiveness, specificity and sensitivity of this diagnosis tool. The rtPCR has been applied successfully in INIAV laboratory for routine diagnosis of myxomatosis since 2005. Copyright © 2013 Elsevier B.V. All rights reserved.

Diagnosis, treatment, and rehabilitation of stress fractures in the lower extremity in runners

PubMed Central

Kahanov, Leamor; Eberman, Lindsey E; Games, Kenneth E; Wasik, Mitch

2015-01-01

Stress fractures account for between 1% and 20% of athletic injuries, with 80% of stress fractures in the lower extremity. Stress fractures of the lower extremity are common injuries among individuals who participate in endurance, high load-bearing activities such as running, military and aerobic exercise and therefore require practitioner expertise in diagnosis and management. Accurate diagnosis for stress fractures is dependent on the anatomical area. Anatomical regions such as the pelvis, sacrum, and metatarsals offer challenges due to difficulty differentiating pathologies with common symptoms. Special tests and treatment regimes, however, are similar among most stress fractures with resolution between 4 weeks to a year. The most difficult aspect of stress fracture treatment entails mitigating internal and external risk factors. Practitioners should address ongoing risk factors to minimize recurrence. PMID:25848327

Laboratory diagnosis of Chlamydia pneumoniae infections

PubMed Central

Peeling, Rosanna W

1995-01-01

Chlamydia pneumoniae is an important cause of respiratory illness. There is a need for accurate and rapid laboratory diagnostic methods that will lead to improved patient care, appropriate use of antimicrobial therapy and a better understanding of the epidemiology of this emerging pathogen. Culture is highly specific but is technically demanding, expensive, has a long turnaround time and its sensitivity is highly dependent on transport conditions. Antigen detection tests such as enzyme immunoassay and direct fluorescent antibody assay, and molecular detection methods such as the polymerase chain reaction assay, may provide a rapid diagnosis without the requirement for stringent transport conditions. The results of these tests should be interpreted with caution until more thorough evaluation is available. Serology remains the method of choice. The limitations of different serological methods for the laboratory diagnosis of C pneumoniae are discussed. PMID:22514397

Chronic pelvic pain syndrome: role of a thorough clinical assessment.

PubMed

Quaghebeur, Jörgen; Wyndaele, Jean-Jacques

2015-04-01

Chronic pelvic pain syndrome (CPPS) presents with a variety of symptoms affecting multiple systems. There is no universal treatment that can be given to all patients with CPPS. The results of treatment depend greatly on an accurate diagnosis. A thorough clinical assessment, including a "four-step plan", should include paying special attention to the musculoskeletal system. This assessment is not difficult to perform and provides valuable information on possible muscular problems and neuropathy.

Genetic diagnosis as a tool for personalized treatment of Duchenne muscular dystrophy.

PubMed

Bello, Luca; Pegoraro, Elena

2016-12-01

Accurate definition of genetic mutations causing Duchenne muscular dystrophy (DMD) has always been relevant in order to provide genetic counseling to patients and families, and helps to establish the prognosis in the case where the distinction between Duchenne, Becker, or intermediate muscular dystrophy is not obvious. As molecular treatments aimed at dystrophin restoration in DMD are increasingly available as commercialized drugs or within clinical trials, genetic diagnosis has become an indispensable tool in order to determine eligibility for these treatments. DMD patients in which multiplex ligation-dependent probe amplification (MLPA) or similar techniques show a deletion suitable to exon skipping of exons 44, 45, 51, or 53, may be currently treated with AONs targeting these exons, in the context of clinical trials, or, as is the case for exon 51 skipping in the United States, with the first commercialized drug (eteplirsen). Patients who test negative at MLPA, but in whom DMD gene sequencing shows a nonsense mutation, may be amenable for treatment with stop codon readthrough compounds such as ataluren. Novel molecular approaches such as CRISPR-Cas9 targeting of specific DMD mutations are still in the preclinical stages, but appear promising. In conclusion, an accurate genetic diagnosis represents the entrance into a new scenario of personalized medicine in DMD.

Malaria rapid diagnostic tests in elimination settings—can they find the last parasite?

PubMed Central

McMorrow, M. L.; Aidoo, M.; Kachur, S. P.

2016-01-01

Rapid diagnostic tests (RDTs) for malaria have improved the availability of parasite-based diagnosis throughout the malaria-endemic world. Accurate malaria diagnosis is essential for malaria case management, surveillance, and elimination. RDTs are inexpensive, simple to perform, and provide results in 15–20 min. Despite high sensitivity and specificity for Plasmodium falciparum infections, RDTs have several limitations that may reduce their utility in low-transmission settings: they do not reliably detect low-density parasitaemia (≤200 parasites/μL), many are less sensitive for Plasmodium vivax infections, and their ability to detect Plasmodium ovale and Plasmodium malariae is unknown. Therefore, in elimination settings, alternative tools with higher sensitivity for low-density infections (e.g. nucleic acid-based tests) are required to complement field diagnostics, and new highly sensitive and specific field-appropriate tests must be developed to ensure accurate diagnosis of symptomatic and asymptomatic carriers. As malaria transmission declines, the proportion of low-density infections among symptomatic and asymptomatic persons is likely to increase, which may limit the utility of RDTs. Monitoring malaria in elimination settings will probably depend on the use of more than one diagnostic tool in clinical-care and surveillance activities, and the combination of tools utilized will need to be informed by regular monitoring of test performance through effective quality assurance. PMID:21910780

Anatomy and physical examination of the knee menisci: a narrative review of the orthopedic literature.

PubMed

Chivers, Michael D; Howitt, Scott D

2009-12-01

The objective of this study was to review the physical examination tests available to a practitioner in order to arrive at a clinical diagnosis or suspicion of a meniscal lesion. The menisci transmit weight bearing forces and increase stability of the knee. The menisci also facilitate nutrition, provide lubrication and shock absorption for the articular cartilage and promote knee proprioception. The combinations of torsional and axial loading appear to be the cause of most meniscal injuries. Diagnosis of acute knee injuries has long been a topic for discussion throughout the orthopedic literature. Many clinical tests and diagnostic studies have been developed to increase the clinician's ability to accurately diagnose these types of disorders of the knee. The accuracy of all diagnostic tests is thought to be dependant upon the skill of the examiner, and the severity and location of the injury. The multitude of tests described to assess meniscal lesions suggests that none are consistently reliable. However, recent research has focused on a composite score to accurately predict meniscus lesions. The combination of a comprehensive history, multiple physical tests and diagnostic imaging for confirmation is typical for a clinical meniscal lesion diagnosis while the gold standard remains the arthroscopic procedure itself.

[Clinical evaluation and psychological aspects of temporomandibular joint disorders].

PubMed

Coessens, P; De Boever, J A

1997-01-01

Establishing the patient's clinical diagnosis depends on gathering as much information of the patient and his or her signs and symptoms as possible. This information can be gathered from history, physical and psychological examination, diagnostic analysis. It is also important to look upon pain as a disorder and to consider the relationship between pain and psychological factors. The differential diagnosis is constructed through a biopsychological model of illness rather than through a more traditional biomedical model of disease. To arrive at a consistently accurate clinical diagnosis in patients with TMJ and craniofacial pain, the technique of clinical diagnosis must be well defined, reliable and include examination of the head and the neck, cranial nerves and the stomatognathic system. The craniomandibular index provides a standardized examination of the stomatognathic system that has been tested on validity and reliability. This chapter focuses on the techniques of history taking clinical and psychological examination and diagnostic criteria for temporomandibular joint disorders and muscle pain.

Demyelinating diseases.

PubMed

Love, S

2006-11-01

A diagnosis of demyelination carries important therapeutic and prognostic implications. In most cases the diagnosis is made clinically, and involvement of the histopathologist is largely confined to postmortem confirmation and clinicopathological correlation. However, every now and then, accurate diagnosis of the presence or cause of demyelination before death hinges on the histopathological assessment. Recognition of demyelination depends on an awareness of this as a diagnostic possibility, and on the use of appropriate tinctorial and immunohistochemical stains to identify myelin, axons and inflammatory cells. In biopsy specimens, the critical distinction is usually from ischaemic or neoplastic disease, and the types of demyelinating disease most likely to be encountered are multiple sclerosis, acute-disseminated encephalomyelitis, progressive multifocal leucoencephalopathy and extrapontine myelinolysis. Interpretation of the pathology has to be made in the context of the clinical, radiological and biochemical findings. Freezing of a small amount of fresh tissue allows for later virological studies, and electron microscopy is occasionally helpful for demonstration of viral particles.

Recent Developments in the Diagnosis and Treatment of Ocular Toxoplasmosis.

PubMed

Ozgonul, Cem; Besirli, Cagri Giray

2017-01-01

Ocular toxoplasmosis, a chorioretinal infection with Toxoplasma gondii, is the most common etiology of posterior uveitis in many countries. Accurate diagnosis depends heavily on the characteristic clinical features of this disease, but atypical presentations, especially in immunocompromised patients, may create diagnostic challenges and lead to misdiagnosis and inappropriate treatment. Molecular biology techniques to diagnose ocular toxoplasmosis have been available for many years and are now accessible as standard laboratory tests in many countries. Aqueous humor or vitreous evaluation to detect parasite DNA by polymerase chain reaction or specific antibody may provide definitive evidence for rapid diagnosis. Oral pyrimethamine and sulfadiazine plus systemic corticosteroids are an effective therapy for ocular toxoplasmosis. Recent data supports the use of other treatment approaches, including intravitreal antibiotics. The aim of the present review is to discuss briefly the new diagnostic tools and treatment options for ocular toxoplasmosis. © 2016 S. Karger AG, Basel.

Computerized detection of breast cancer with artificial intelligence and thermograms.

PubMed

Ng, E Y-K; Fok, S C; Peh, Y C; Ng, F C; Sim, L S J

2002-01-01

This paper shows the concurrent use of thermography and artificial neural networks (ANN) for the diagnosis of breast cancer, a disease that is growing in prominence in women all over the world. It has been reported that breast thermography itself could detect breast cancer up to 10 years earlier than the conventional golden methods such as mammography, in particular in the younger patient. However, the accuracy of thermography is dependent on many factors such as the symmetry of the breasts' temperature and temperature stability. A woman's body temperature is known to be stable in certain periods after menstruation and it was found that the accuracy of thermography in women whose thermal images are taken in a suitable period (5th - 12th and 21st day of menstruation) is higher (80%) than the total population of patients (73%). The stability of the body temperature will depend on physiological state. This paper examines the use of ANN to complement the infrared heat radiating from the surface of the body with other physiological data. Four backpropagation neural networks were developed and trained using the results from the Singapore General Hospital patients' physiological data and thermographs. Owing to the inaccuracies found in thermography and the low population size gathered for this project, the networks developed could only accurately diagnose about 61.54% of the breast cancer cases. Nevertheless, the basic neural network framework has been established and it has great potential for future development of an intelligent breast cancer diagnosis system. This would be especially useful to the teenagers and young adults who are unsuitable for mammography at a young age. An intelligent breast thermography-neural network will be able to give an accurate diagnosis of breast cancer and can make a positive impact on breast disease detection.

Radiology of benign disorders of menstruation.

PubMed

Griffin, Yvette; Sudigali, Venkat; Jacques, Audrey

2010-10-01

Menstrual complaints are common and include pain, abnormal bleeding, and menstrual irregularity. The etiology is wide-ranging and includes endometriosis, fibroids, adenomyosis, pelvic congestion syndrome, pelvic inflammatory disease, endometrial hyperplasia, and polyps. Polycystic ovarian syndrome and some congenital uterine anomalies may present with menstrual disturbance and have been included in this review. Transvaginal ultrasound is widely used as first-line investigation. Magnetic resonance imaging is used increasingly with high diagnostic accuracy and confidence. Its multiplanar capacity and superior tissue contrast resolution enable accurate presurgical mapping of fibroids, deep pelvic endometriosis, and adenomyosis. Similarly, accurate differentiation of congenital uterine anomalies depends on multiplanar imaging with either 3-dimensional ultrasound or magnetic resonance imaging. Recent advances in imaging and radiological intervention, combined with an understanding of the underlying causes of menstrual dysfunction, therefore aid in accurate diagnosis and optimal treatment planning. Copyright © 2010 Elsevier Inc. All rights reserved.

[PAX3 gene mutation analysis for two Waardenburg syndrome type Ⅰ families and their prenatal diagnosis].

PubMed

Bai, Y; Liu, N; Kong, X D; Yan, J; Qin, Z B; Wang, B

2016-12-07

Objective: To analyze the mutations of PAX3 gene in two Waardenburg syndrome type Ⅰ (WS1) pedigrees and make prenatal diagnosis for the high-risk 18-week-old fetus. Methods: PAX3 gene was first analyzed by Sanger sequencing and multiplex ligation-dependent probe amplification(MLPA) for detecting pathogenic mutation of the probands of the two pedigrees. The mutations were confirmed by MLPA and Sanger in parents and unrelated healthy individuals.Prenatal genetic diagnosis for the high-risk fetus was performed by amniotic fluid cell after genotyping. Results: A heterozygous PAX3 gene gross deletion (E7 deletion) was identified in all patients from WS1-01 family, and not found in 20 healthy individuals.Prenatal diagnosis in WS1-01 family indicated that the fetus was normal. Molecular studies identified a novel deletion mutation c. 1385_1386delCT within the PAX3 gene in all affected WS1-02 family members, but in none of the unaffected relatives and 200 healthy individuals. Conclusions: PAX3 gene mutation is etiological for two WS1 families. Sanger sequencing plus MLPA is effective and accurate for making gene diagnosis and prenatal diagnosis.

Robust Cell Detection of Histopathological Brain Tumor Images Using Sparse Reconstruction and Adaptive Dictionary Selection

PubMed Central

Su, Hai; Xing, Fuyong; Yang, Lin

2016-01-01

Successful diagnostic and prognostic stratification, treatment outcome prediction, and therapy planning depend on reproducible and accurate pathology analysis. Computer aided diagnosis (CAD) is a useful tool to help doctors make better decisions in cancer diagnosis and treatment. Accurate cell detection is often an essential prerequisite for subsequent cellular analysis. The major challenge of robust brain tumor nuclei/cell detection is to handle significant variations in cell appearance and to split touching cells. In this paper, we present an automatic cell detection framework using sparse reconstruction and adaptive dictionary learning. The main contributions of our method are: 1) A sparse reconstruction based approach to split touching cells; 2) An adaptive dictionary learning method used to handle cell appearance variations. The proposed method has been extensively tested on a data set with more than 2000 cells extracted from 32 whole slide scanned images. The automatic cell detection results are compared with the manually annotated ground truth and other state-of-the-art cell detection algorithms. The proposed method achieves the best cell detection accuracy with a F1 score = 0.96. PMID:26812706

Decision-making deficits in patients diagnosed with disordered gambling using the Cambridge Gambling task: the effects of substance use disorder comorbidity.

PubMed

Zois, Evangelos; Kortlang, Noreen; Vollstädt-Klein, Sabine; Lemenager, Tagrid; Beutel, Martin; Mann, Karl; Fauth-Bühler, Mira

2014-07-01

Disordered gambling (DG) has often been associated with impaired decision-making abilities, suggesting a dysfunction in the ventromedial prefrontal cortex (vmPFC). To our knowledge, no previous study has accurately considered the effect of substance use disorder (SUD) comorbidity (including nicotine dependence) on decision-making impairments in DG. We employed the Cambridge Gambling Task (CGT) to assess a big cohort of patients diagnosed with DG (N = 80) against matched healthy controls (HCs) (N = 108). The cohort included DG patients with nicotine and alcohol dependence, alcohol dependence only and 12 "pure" nonsmokers with only DG diagnosis. Pure nonsmoking, nicotine dependent as well as alcoholic DGs with current nicotine dependence, demonstrated a decision making profile, characterized by poor decision-making abilities and failure to make right choices (rational), closely resembling that of patients with vmPFC damage. This suggests that DGs with and without SUD comorbidity are equally affected in that domain of decision making abilities. Additionally, gambling diagnosis combined with alcohol and nicotine dependence involves a group of gambling patients with a relatively riskier decision making profile, showing that these patients apart from making irrational decisions take also more risks. Our findings highlight the importance of accounting for SUD comorbidities with useful implications for future research and therapy. Limitations of the current investigation are discussed.

Decision-making deficits in patients diagnosed with disordered gambling using the Cambridge Gambling task: the effects of substance use disorder comorbidity

PubMed Central

Zois, Evangelos; Kortlang, Noreen; Vollstädt-Klein, Sabine; Lemenager, Tagrid; Beutel, Martin; Mann, Karl; Fauth-Bühler, Mira

2014-01-01

Background Disordered gambling (DG) has often been associated with impaired decision-making abilities, suggesting a dysfunction in the ventromedial prefrontal cortex (vmPFC). Aims To our knowledge, no previous study has accurately considered the effect of substance use disorder (SUD) comorbidity (including nicotine dependence) on decision-making impairments in DG. Methods and Materials We employed the Cambridge Gambling Task (CGT) to assess a big cohort of patients diagnosed with DG (N = 80) against matched healthy controls (HCs) (N = 108). The cohort included DG patients with nicotine and alcohol dependence, alcohol dependence only and 12 “pure” nonsmokers with only DG diagnosis. Results Pure nonsmoking, nicotine dependent as well as alcoholic DGs with current nicotine dependence, demonstrated a decision making profile, characterized by poor decision-making abilities and failure to make right choices (rational), closely resembling that of patients with vmPFC damage. Discussion This suggests that DGs with and without SUD comorbidity are equally affected in that domain of decision making abilities. Additionally, gambling diagnosis combined with alcohol and nicotine dependence involves a group of gambling patients with a relatively riskier decision making profile, showing that these patients apart from making irrational decisions take also more risks. Our findings highlight the importance of accounting for SUD comorbidities with useful implications for future research and therapy. Limitations of the current investigation are discussed. PMID:25161815

Case Report: Application of whole exome sequencing for accurate diagnosis of rare syndromes of mineralocorticoid excess

PubMed Central

Narayanan, Ranjit; Karuthedath Vellarikkal, Shamsudheen; Jayarajan, Rijith; Verma, Ankit; Dixit, Vishal; Scaria, Vinod; Sivasubbu, Sridhar

2017-01-01

Syndromes of mineralocorticoid excess (SME) are closely related clinical manifestations occurring within a specific set of diseases. Overlapping clinical manifestations of such syndromes often create a dilemma in accurate diagnosis, which is crucial for disease surveillance and management especially in rare genetic disorders. Here we demonstrate the use of whole exome sequencing (WES) for accurate diagnosis of rare SME and report that p.R337C variation in the HSD11B2 gene causes progressive apparent mineralocorticoid excess (AME) syndrome in a South Indian family of Mappila origin. PMID:29067160

A Clinician's Guide to the Diagnosis and Management of Gallbladder Volvulus.

PubMed

Pottorf, Brian J; Alfaro, Leonardo; Hollis, Harris W

2013-01-01

Gallbladder volvulus (GV), or torsion of the gallbladder, is an uncommon surgical emergency. This article reviews the world literature related to GV. We examine the history of gallbladder torsion and highlight the critical constellation of presenting signs and symptoms, which guide the acute care physician and surgeon to accurate and timely diagnosis of GV before surgical intervention. A comprehensive review of all published cases of GV was performed using the National Library of Medicine (PubMed) database. Lists of typical symptoms and clinical presentations are provided to allow clinicians to establish an accurate preoperative diagnosis. GV is frequently undiagnosed before surgical intervention. However, clinical presentation and associated radiographic findings can lead to an accurate diagnosis if the clinician is aware of this uncommon condition. When the diagnosis has been established before operative intervention, expeditious laparoscopic cholecystectomy can be performed safely. Delays in diagnosis may mandate open cholecystectomy if laparoscopic extraction is contraindicated because of undesirable sequelae of gallbladder necrosis, specifically perforation, bilious peritonitis, and hemodynamic instability.

The management and treatment of hypertension.

PubMed

Germino, F Wilford

2009-01-01

High blood pressure (HBP) is one of the most prevalent conditions seen today by clinicians, affecting an estimated 73 million--or 1 in 3--adult Americans, only one third of whom have achieved control of their hypertension (HBP). Central to the management of this pervasive medical condition are the issues of accurate diagnosis and maintaining control through appropriate treatment. Accurate diagnosis depends primarily on reliable measurement. Over the years, it has become increasingly recognized that blood pressure (BP) measurement occurring in clinical settings produces far less accurate and reliable readings than do other methods, notably 24-hour ambulatory BP monitoring and home BP measurement. Beyond technique, there are additional challenges to obtaining accurate readings, including emotional factors that produce either falsely elevated or lowered results, having the potential to mislead the clinician. The need to overcome obstacles to proper diagnosis and determine effective treatments has reached heightened urgency, especially for patients with compelling comorbidities such as diabetes, renal disease, congestive heart failure, and other cardiovascular diseases. The continuing evolution of the management of HBP is reflected in updated guidelines from the American Heart Association and evidence-based information stemming from recent studies and randomized clinical trials. The appropriate selection of antihypertensive agents, at the proper doses, is a complex issue requiring greater understanding of our pharmacologic options. The contributions of some of the more recent and salient studies and trials are mentioned here, although there is no attempt in this brief review to match drug classes with compelling indications. The trials discussed involve such pharmacologic treatments as diuretic therapy, alpha-blockers, conventional beta-blockers, calcium channel blockers, angiotensin-converting enzyme inhibitors, and angiotensin receptor blockers. Trial outcomes shed light on the relative benefits and drawbacks of these agents, often within the context of various patient characteristics such as age, comorbidities, and risk status. Successful management of HBP is a multi-faceted and ongoing endeavor, in which developing knowledge constantly tempered by new questions moves us toward the goal of improving the lives of our patients.

Endoscopic Histologic Mapping of a Mixed Germ Pineal Tumor.

PubMed

Velásquez, Carlos; Rivero-Garvía, Mónica; Rivas, Eloy; Cañizares, María de Los Angeles; Mayorga-Buiza, María José; Márquez-Rivas, Javier

2016-11-01

The accurate histologic diagnosis of germ cell tumors in the pineal region is a keystone for determining the best treatment strategy and prognosis. This situation poses a challenge for the neuropathologist, considering the lack of a standarized procedure to obtain biopsy samples, which results in few and small specimens, which are not suitable for diagnosis. We report a case in which a pineal region mixed germ cell tumor was accurately diagnosed by performing histologic mapping through a dual burr-hole endoscopic approach. The technical pitfalls and other considerations necessary for obtaining an accurate diagnosis in this tumor subgroup are specified. In addition, the histologic analysis regarding the sampling technique used is described. The supraorbital frontal endoscopic approach enables the surgeon to perform histologic mapping of pineal region tumors, allowing standarization of the procedure used to obtain the specimens. This approach could result in a more accurate diagnosis, especially in mixed germ cell neoplasms. Copyright © 2016 Elsevier Inc. All rights reserved.

Cost-effectiveness and accuracy of the tests used in the differential diagnosis of Cushing's syndrome.

PubMed

Puig, J; Wägner, A; Caballero, A; Rodríguez-Espinosa, J; Webb, S M

1999-01-01

Establish the minimal biochemical and radiological examinations necessary and their cost-effectiveness to accurately diagnose the etiology of Cushing's syndrome (CS). In 71 patients with CS followed between 1982 and 1997 biochemical studies (basal ACTH, 8 mg dexamethasone suppression test-HDST-, metyrapone stimulation test-MST-, or inferior petrosal sinus catheterization-IPSC-) and radiological investigations (abdominal CT scan, pituitary CT scan or MRI) were performed. Once pathology confirmed the diagnosis (48 pituitary Cushing's disease-CD, 17 adrenal neoplasms, 2 bilateral macronodular hyperplasia-BMH-, and 4 ectopic ACTH syndrome-ES-), the sensitivity, specificity, positive and negative predictive value of the different studies was calculated to establish the most accurate and cost-effective diagnostic protocol. In ACTH-independent CS (ACTH < or = 9 pg/ml; normal 9 to 54) a unilateral tumor was identified on abdominal CT scanning in 17, and BMH in 1; the other BMH had detectable ACTH (43.2 pg/ml). In ACTH-dependent CS, ACTH was > 9 pg/ml and IPSC (performed in 22) correctly identified 20 patients with CD and differentiated them from 2 with an ES (100% specificity and sensitivity). Pituitary MRI or CT did not disclose an adenoma in 41.7% of patients with CD, and was reported to exhibit a microadenoma in 2 of the 4 patients with ES. HDST and MST were of no additional use in the differentiation between CD and ES. Once CS is diagnosed low ACTH and an abdominal CT scan correctly identified all patients of adrenal origin. In ACTH-dependent CS IPSC was the best predictive test to differentiate CD from ES. BMH may behave as ACTH-dependent or independent. The other biochemical and radiological studies performed are not cost-effective and may even be misleading, and should not be routinely performed.

A practical approach to acute hemiparesis in children.

PubMed

Bhate, Sanjay; Ganesan, Vijeya

2015-08-01

Acute hemiparesis in children is a common clinical syndrome presenting to a variety of care settings. The recognition and the differential diagnosis is challenging, particularly in young children. Arterial ischaemic stroke (AIS) is the primary diagnosis to be considered as this requires emergency investigations and management; however, there are several conditions collectively described as 'stroke mimics' that need consideration. Accurate diagnosis is essential for appropriate management. Clinical data combined with neuroimaging are important for accurate diagnosis and management. This review and the accompanying illustrative case vignettes suggest a practical approach to differential diagnosis and management of children presenting with acute hemiparesis. © 2015 Mac Keith Press.

The retrieval of unerupted teeth in pedodontics: two case reports

PubMed Central

2014-01-01

Introduction The retrieval of unerupted teeth in pedodontics is always significant to preserve the trophism of adjacent tissues, establish the correct space, provide adequate function and maintain good esthetics for the patient. The treatment plan is based on radiographic examinations and measurements, and on an accurate clinical evaluation; it aims to achieve the best treatment possible depending on the complexity of the specific case. In the most difficult clinical cases it is very important to have an early diagnosis, which is essential to plan the treatment and achieve success. In these cases, the pediatrician is in a strategic position to give an early diagnosis through a child’s medical history and by counting the child’s teeth. Case presentation This article presents two different difficult clinical cases of impacted teeth diagnosed during pediatric age, with a radiological analysis, and successfully treated with orthodontic devices designed for these specific cases. Clinical case 1 describes a 13-year-old Italian girl; clinical case 2 describes a 9-year-old Italian girl. The use of these devices achieved the desired treatment goals. The problems associated with impacted teeth and the biomechanical interventions used for these patients are discussed. Conclusions An early and careful diagnosis followed by an accurate treatment plan for the individual cases can lead to retrieval of the impacted teeth without affecting other anatomic structures and adjacent teeth. In these cases, the pediatrician is in a strategic position to give an early diagnosis through a child’s medical history and by counting the child’s teeth. PMID:25301242

High-sensitivity cardiac troponin testing in routine practice: economic and organizational advantages.

PubMed

Galli, Claudio; Lippi, Giuseppe

2016-07-01

Very seldom, if ever, a single laboratory test has provided such a paradigm shift in the managed care as cardiac troponin (cTn) testing. More than twenty years of improvements in test design and analytical features have contributed to revolutionize the clinical recommendations and guidelines, and the diagnosis of myocardial infarction (MI) is now highly dependent upon the kinetics of cTn within a suggestive clinical setting. Despite the advent of high-sensitivity cTn (HS-cTn) immunoassays has allowed a more accurate and timely diagnosis as well as a higher prognostic accuracy, the focus is now shifting on the most suitable algorithms and on a comprehensive approach to the clinical management of acute coronary syndrome (ACS). In this article we aim to discuss the implications of HS-cTn testing for ruling out and ruling in ACS. In the latter instance, main improvements are related to ACS diagnosis in women, in whom this pathology is still often underdiagnosed or misdiagnosed. A quick and accurate rule out will also regarded as a great advantage from both an organizational and economic standpoint. The advantages that will stem from this new approach have been recently assessed, and shortening of repeated testing 1 or 2 h from conventional algorithms entailing blood sampling at 3 and 6 h seems attainable. The larger benefits will definitely occur in clinical settings where the actual diagnosis rate of MI among patients with suspect ACS is lower and, consequently, the negative predictive value (NPV) of HS-cTn is the highest.

Non-invasive prenatal diagnosis of achondroplasia and thanatophoric dysplasia: next-generation sequencing allows for a safer, more accurate, and comprehensive approach.

PubMed

Chitty, Lyn S; Mason, Sarah; Barrett, Angela N; McKay, Fiona; Lench, Nicholas; Daley, Rebecca; Jenkins, Lucy A

2015-07-01

Accurate prenatal diagnosis of genetic conditions can be challenging and usually requires invasive testing. Here, we demonstrate the potential of next-generation sequencing (NGS) for the analysis of cell-free DNA in maternal blood to transform prenatal diagnosis of monogenic disorders. Analysis of cell-free DNA using a PCR and restriction enzyme digest (PCR-RED) was compared with a novel NGS assay in pregnancies at risk of achondroplasia and thanatophoric dysplasia. PCR-RED was performed in 72 cases and was correct in 88.6%, inconclusive in 7% with one false negative. NGS was performed in 47 cases and was accurate in 96.2% with no inconclusives. Both approaches were used in 27 cases, with NGS giving the correct result in the two cases inconclusive with PCR-RED. NGS provides an accurate, flexible approach to non-invasive prenatal diagnosis of de novo and paternally inherited mutations. It is more sensitive than PCR-RED and is ideal when screening a gene with multiple potential pathogenic mutations. These findings highlight the value of NGS in the development of non-invasive prenatal diagnosis for other monogenic disorders. © 2015 John Wiley & Sons, Ltd.

Serological diagnosis of brucellosis.

PubMed

Nielsen, K; Yu, W L

2010-01-01

To present a review and to describe the most widely used laboratory tests for serology diagnosis of brucellosis along with their pros and cons. Review the recent literature on brucellosis serology diagnostic tests. The choice of the testing strategy depends on the prevailing brucellosis epidemiological situation and the goal of testing. The 'gold standard' for the diagnosis of brucellosis is isolation and identification of the causative bacterium, a member of Brucella sp. Isolation of Brucella sp. requires high security laboratory facilities (biological containment level 3), highly skilled personnel, an extended turnaround time for results and it is considered a hazardous procedure. Hence brucellosis is generally diagnosed by detection of an elevated level of antibody in serum or other body fluid. This is a presumptive diagnosis as other microorganisms and perhaps environmental factors can also cause increased antibody levels. A large number of serological tests for brucellosis have been devised over the 100+ years since its initial isolation, starting with a simple agglutination test and progressing to sophisticated primary binding assays available today. However, no test devised to date is 100% accurate so generally serological diagnosis consists of testing sera by several tests, usually a screening test of high sensitivity, followed by a confirmatory test of high specificity.

Development of rapid phenotypic system for the identification of Gram-negative oxidase-positive bacilli in resource-limited settings.

PubMed

Kazmi, Mahmooda; Khan, Adnan; Kazmi, Shahana Urooj

2013-06-01

Rapid and accurate identification of bacterial pathogens is a fundamental goal of clinical microbiology. The diagnosis and surveillance of diseases is dependent, to a great extent, on laboratory services, which cannot function without effective reliable reagents and diagnostics. Despite the advancement in microbiology diagnosis globally, resourcelimited countries still struggle to provide an acceptable diagnosis quality which helps in clinical disease management and improve their mortality and morbidity data. During this study an indigenous product, Quick Test Strip (QTS) NE, was developed for the rapid identification of biochemically slower group of Gram-negative oxidase-positive bacilli that covers 19 different bacterial genera. Some of the members belonging to these groups are well-established human pathogens, e.g. various species of Vibrio, Pseudomonas, Burkholderia, Aeromonas, Achromobacter and Stenotrophomonas. This study also evaluates the performance of QTS-NE by comparing with genotypic characterization methods. A total of 232 clinical and reference bacterial isolates were tested by three different methods. QTSNE provides 100 percent concordant results with other rapid identification and molecular characterization methods and confirms the potential to be used in clinical diagnosis.

Diagnosis of Hirschsprung's disease with particular emphasis on histopathology. A systematic review of current literature

PubMed Central

Szylberg, Łukasz

2014-01-01

Hirschsprung's disease (HD) is a disorder that involves several medical specialties such as paediatric gastroenterology, paediatric surgery, and pathology. Hirschsprung's disease is a congenital bowel innervation disorder characterised by the absence of ganglion cells in myenteric (Auerbach) and submucosal (Meissner) plexus in the distal colon in its classical form. Rapid and accurate diagnosis of HD is a key element in further treatment patterns. The efficiency of different diagnostic methods used in HD patients may vary. Using one limited diagnostic procedure can lead to as much as a few per cent of overlooked cases. In recent years, rectal biopsy was recognised as an important diagnostic tool that allows for a definitive HD diagnosis with an accuracy of 95% of cases. A correct diagnosis depends on the localisation of the biopsied sample, its representativeness, the number of specimens, and proper interpretation of microscopic studies supported by histochemical and immunohistochemical methods. When several methods are used and all diagnostic criteria are used, the diagnostic sensitivity can almost eliminate cases of undiagnosed patients. PMID:25395999

Non-invasive prenatal diagnosis of achondroplasia and thanatophoric dysplasia: next-generation sequencing allows for a safer, more accurate, and comprehensive approach

PubMed Central

Chitty, Lyn S; Mason, Sarah; Barrett, Angela N; McKay, Fiona; Lench, Nicholas; Daley, Rebecca; Jenkins, Lucy A

2015-01-01

Abstract Objective Accurate prenatal diagnosis of genetic conditions can be challenging and usually requires invasive testing. Here, we demonstrate the potential of next-generation sequencing (NGS) for the analysis of cell-free DNA in maternal blood to transform prenatal diagnosis of monogenic disorders. Methods Analysis of cell-free DNA using a PCR and restriction enzyme digest (PCR–RED) was compared with a novel NGS assay in pregnancies at risk of achondroplasia and thanatophoric dysplasia. Results PCR–RED was performed in 72 cases and was correct in 88.6%, inconclusive in 7% with one false negative. NGS was performed in 47 cases and was accurate in 96.2% with no inconclusives. Both approaches were used in 27 cases, with NGS giving the correct result in the two cases inconclusive with PCR–RED. Conclusion NGS provides an accurate, flexible approach to non-invasive prenatal diagnosis of de novo and paternally inherited mutations. It is more sensitive than PCR–RED and is ideal when screening a gene with multiple potential pathogenic mutations. These findings highlight the value of NGS in the development of non-invasive prenatal diagnosis for other monogenic disorders. © 2015 The Authors. Prenatal Diagnosis published by John Wiley & Sons, Ltd. What's already known about this topic? Non-invasive prenatal diagnosis (NIPD) using PCR-based methods has been reported for the detection or exclusion of individual paternally inherited or de novo alleles in maternal plasma. What does this study add? NIPD using next generation sequencing provides an accurate, more sensitive approach which can be used to detect multiple mutations in a single assay and so is ideal when screening a gene with multiple potential pathogenic mutations. Next generation sequencing thus provides a flexible approach to non-invasive prenatal diagnosis ideal for use in a busy service laboratory. PMID:25728633

A Clinician’s Guide to the Diagnosis and Management of Gallbladder Volvulus

PubMed Central

Pottorf, Brian J; Alfaro, Leonardo; Hollis, Harris W

2013-01-01

Introduction: Gallbladder volvulus (GV), or torsion of the gallbladder, is an uncommon surgical emergency. This article reviews the world literature related to GV. We examine the history of gallbladder torsion and highlight the critical constellation of presenting signs and symptoms, which guide the acute care physician and surgeon to accurate and timely diagnosis of GV before surgical intervention. Methods: A comprehensive review of all published cases of GV was performed using the National Library of Medicine (PubMed) database. Results: Lists of typical symptoms and clinical presentations are provided to allow clinicians to establish an accurate preoperative diagnosis. Conclusion: GV is frequently undiagnosed before surgical intervention. However, clinical presentation and associated radiographic findings can lead to an accurate diagnosis if the clinician is aware of this uncommon condition. When the diagnosis has been established before operative intervention, expeditious laparoscopic cholecystectomy can be performed safely. Delays in diagnosis may mandate open cholecystectomy if laparoscopic extraction is contraindicated because of undesirable sequelae of gallbladder necrosis, specifically perforation, bilious peritonitis, and hemodynamic instability. PMID:23704849

Strategy and optimization of diagnostic imaging in painful hip in adults.

PubMed

Blum, A; Raymond, A; Teixeira, P

2015-02-01

Diagnostic imaging strategy in painful hip depends on many factors, but in all cases, plain X-ray is the first investigation. It may be sufficient to reach diagnosis and determine treatment options. More effective but more expensive exploration is indicated in two circumstances: when plain X-ray is non-contributive, and when diagnosis has been established but more accurate imaging assessment is needed to guide treatment. Following radiography, the choice of imaging techniques depends not only on the suspected pathology but also on the availability of equipment and its performance. MRI is probably the technique that provides the most comprehensive results; recent improved accessibility has significantly simplified the diagnostic algorithm. CT remains invaluable, and current techniques have reduced patient irradiation to a level similar to that of standard X-ray. Finally, cost is an important consideration in choosing the means of exploration, but the overall financial impact of the various strategies for diagnosis of painful hip is not well established. This article aims to provide a simple and effective diagnostic strategy for the assessment of painful hip, taking account of the clinical situation, and to detail the most typical semiologic patterns of each disease affecting this joint. Copyright © 2015. Published by Elsevier Masson SAS.

A single centre study on birth of children with transfusion-dependent thalassaemia in Malaysia and reasons for ineffective prevention.

PubMed

Ngim, C F; Ibrahim, H; Lai, N M; Ng, C S

2015-01-01

We aimed to identify factors contributing to ineffective prevention of thalassaemia in Malaysia by studying events leading to the births of children with transfusion-dependent thalassaemia (TDT) including their parents' reproductive choices. Thirty children with TDT born in the year 2005 to 2012 were included. Their parents underwent a semi-structured, face-to-face interview in 2012 and were followed up until 2014 to evaluate the actual decisions made during subsequent pregnancy. In 70% of the cases (21/30), neither parent was aware of their carrier status until their child's diagnosis. Six of the remaining nine cases did not receive accurate information or support for prenatal diagnosis and the termination option. Of the 38 parents interviewed, 20 (52.6%) indicated that they would terminate an affected pregnancy. Notably, 52.2% of Muslims supported termination. Prenatal diagnosis was made in two of the five subsequent pregnancies, with thalassaemia traits diagnosed in both fetuses. The current poor uptake of voluntary thalassaemia screening in Malaysia and inadequate access to counselling and prenatal diagnostic services contributed to ineffective prevention. A considerable number of Malaysian Muslims may accept the termination option if given access to comprehensive genetic counselling services. © 2014 John Wiley & Sons, Ltd.

Bedside ultrasound in the diagnosis of complex hand infections: a case series.

PubMed

Marvel, Brett A; Budhram, Gavin R

2015-01-01

The red, swollen, infected hand can be a diagnostically challenging presentation in the emergency department (ED). Hand infections are a relatively uncommon ED complaint, and diagnoses may range from simple cellulitis to deep space abscess, and even to suppurative flexor tenosynovitis. The accurate differentiation of these clinical entities is of paramount importance to healing and recovery of function. In this case series, we review 4 patients with similar presenting complaints of a red, swollen hand, but with much different diagnoses and eventual treatment strategies. We describe how ultrasound was used to assist in making the diagnosis and initiating the most appropriate therapy. Finally, we review techniques for sonographic evaluation of the hand and provide imaging tips to improve visualization and accurate diagnosis. Why should an emergency physician be aware of this? Bedside ultrasound may allow for a more rapid and accurate diagnosis of various hand infections when diagnosis by physical examination is unclear. Copyright © 2015 Elsevier Inc. All rights reserved.

Antenatal diagnosis of Down syndrome: how good is state of the art.

PubMed

Mittal, Riju; Varghese, Raji Mathew; Puliyel, Jacob M

2009-01-01

A newborn with Down syndrome can be expected once in a thousand deliveries. Amniocentesis for karyotyping of foetal cells or detection of foetal cell in the maternal circulation ie, fluorescent in-situ hybridisation (FISH) and karyotyping, are definitive methods of making the diagnosis antenatally. The cost of doing this routinely in all pregnancies is prohibitive. This has led to dependence on screening tests, to select women more likely to be carrying a Down foetus, to offer karyotyping in a more cost efficient manner. Unfortunately, these screening criteria, namely maternal age, biochemical markers and ultrasound pointers, are rather insensitive and miss a large number of cases of Down syndrome. At the same time they are very non-specific, picking up a large number of false positive cases, resulting in undue anxiety and unnecessary alarm in a large number of mothers. Till a non-invasive, definitive test, like FISH can be routinely used in all pregnancies at affordable costs, accurate antenatal diagnosis on a community basis will be a hit and miss affair.

A type II first branchial cleft cyst masquerading as an infected parotid Warthin's tumor.

PubMed

Chen, Meng-Feng; Ueng, Shir-Hwa; Jung, Shih-Ming; Chen, Yao-Liang; Chang, Kai-Ping

2006-01-01

The diagnosis of a parotid mass usually depends on thorough history taking and physical examination. Diagnostic modalities, including ultrasonographic examinations, computed tomography and magnetic resonance images, may also provide substantial information but their accuracy for diagnosis is sometimes questionable, especially in differentiating some rare neoplasms. First branchial cleft cysts (FBCCs) are rare causes of parotid swelling and comprise less than 1% of all branchial anomalies. They are frequently misdiagnosed due to their rarity and unfamiliar clinical signs and symptoms. We present a case of type II FBCC masquerading as an infected parotid Warthin's tumor. We also review the clinical signs and symptoms of FBCCs in order to remind clinicians that this rare branchial anomaly can mimic an infected Warthin's tumor and may be seated in the deep lobe of the parotid gland. By making an accurate pre-operative diagnosis of type II FBCC, we can minimize surgical morbidity and avoid incomplete resection and possible recurrence.

Relevance of Rodent Models of Depression in Clinical Practice: Can We Overcome the Obstacles in Translational Neuropsychiatry?

PubMed

Söderlund, Johan; Lindskog, Maria

2018-04-23

The diagnosis of a mental disorder generally depends on clinical observations and phenomenological symptoms reported by the patient. The definition of a given diagnosis is criteria based and relies on the ability to accurately interpret subjective symptoms and complex behavior. This type of diagnosis comprises a challenge to translate to reliable animal models, and these translational uncertainties hamper the development of new treatments. In this review, we will discuss how depressive-like behavior can be induced in rodents, and the relationship between these models and depression in humans. Specifically, we suggest similarities between triggers of depressive-like behavior in animal models and human conditions known to increase the risk of depression, for example exhaustion and bullying. Although we acknowledge the potential problems in comparing animal findings to human conditions, such comparisons are useful for understanding the complexity of depression, and we highlight the need to develop clinical diagnoses and animal models in parallel to overcome translational uncertainties.

Diagnosis and management of nasal congestion: the role of intranasal corticosteroids.

PubMed

Benninger, Michael

2009-01-01

Nasal congestion is considered the most bothersome of allergic rhinitis (AR) symptoms and can significantly impair ability to function at work, home, and school. Effective management of AR-related nasal congestion depends on accurate diagnosis and appropriate treatment. Many individuals with AR and AR-related congestion remain undiagnosed and do not receive prescription medication. However, new tools intended to improve the diagnosis of nasal congestion have been developed and validated. Intranasal corticosteroids (INSs) are recommended as first-line therapy for patients with moderate-to-severe AR and also when nasal congestion is a prominent symptom. Double blind, randomized clinical trials have demonstrated greater efficacy of INSs versus placebo, antihistamines, or montelukast for relief of all nasal symptoms, especially congestion. Patient adherence to treatment also affects outcomes, and this may be influenced by patient preferences for the sensory attributes of an individual drug. Increased awareness of the effects of AR-related nasal congestion, the efficacy and safety of available pharmacotherapies, and barriers to adherence may improve clinical outcomes.

Diagnosis of adolescent polycystic ovary syndrome.

PubMed

Hardy, Tristan S E; Norman, Robert J

2013-08-01

Polycystic ovary syndrome (PCOS) is the most common endocrinopathy affecting women of reproductive age and is increasingly recognized as a disorder manifesting in the peripubertal and adolescent period. Diagnosis in the adolescent is difficult due to the high background rate of menstrual irregularity, the high prevalence of polycystic ovarian morphology and hyperandrogenic features in this population. Recent guidelines suggest that menstrual irregularity for over two years, reduced reliance on ultrasound diagnosis of polycystic ovarian morphology, and accurate assessment of hyperandrogenic and metabolic features are suitable strategies for the diagnosis of PCOS in the adolescent. Accurate diagnosis is important given the long-term implications of the disorder, with increasing emphasis on metabolic sequelae. Copyright © 2013 Elsevier Inc. All rights reserved.

PubMed Central

Bello, Luca

2016-01-01

Accurate definition of genetic mutations causing Duchenne muscular dystrophy (DMD) has always been relevant in order to provide genetic counseling to patients and families, and helps to establish the prognosis in the case where the distinction between Duchenne, Becker, or intermediate muscular dystrophy is not obvious. As molecular treatments aimed at dystrophin restoration in DMD are increasingly available as commercialized drugs or within clinical trials, genetic diagnosis has become an indispensable tool in order to determine eligibility for these treatments. DMD patients in which multiplex ligation-dependent probe amplification (MLPA) or similar techniques show a deletion suitable to exon skipping of exons 44, 45, 51, or 53, may be currently treated with AONs targeting these exons, in the context of clinical trials, or, as is the case for exon 51 skipping in the United States, with the first commercialized drug (eteplirsen). Patients who test negative at MLPA, but in whom DMD gene sequencing shows a nonsense mutation, may be amenable for treatment with stop codon readthrough compounds such as ataluren. Novel molecular approaches such as CRISPR-Cas9 targeting of specific DMD mutations are still in the preclinical stages, but appear promising. In conclusion, an accurate genetic diagnosis represents the entrance into a new scenario of personalized medicine in DMD. PMID:28484312

Giant fibrovascular polyp of the oesophagus: a case report and review of the literature

PubMed Central

Chourmouzi, Danai; Drevelegas, Antonios

2008-01-01

Introduction We present a case of fibrovascular polyp, a rare submucosal tumour of the oesophagus that has been reported only sporadically in the literature. The biapproach for surgical removal of fibrovascular polyp has only been mentioned once in the literature. Case presentation A 65-year-old Greek man presented with a 9-month history of gradually progressive intermittent dysphagia. Radiologic work-up with oesophagogram and computed tomography revealed a large, sausage-shaped intraluminal polyp extending from the level of the cervical oesophagus to the level of the upper body of the stomach. The diagnosis of giant fibrovascular polyp was made radiographically and confirmed by endoscopic biopsy. The polyp was removed using a biapproach surgical technique: pharyngotomy and subsequent gastrostomy. Conclusion Fibrovascular polyp is a rare submucosal tumour. Proper treatment depends on accurate assessment of the origin, size, and vascularity of the pedicle and the size of the tumour. Choice of the appropriate surgical approach depends on the correct diagnosis, which can usually be indicated radiographically by the presence of a smooth, sausage-shaped defect with a discrete bulbous tip. PMID:18957112

Radiologic evaluation of nonalcoholic fatty liver disease

PubMed Central

Lee, Seung Soo; Park, Seong Ho

2014-01-01

Nonalcoholic fatty liver disease (NAFLD) is a frequent cause of chronic liver diseases, ranging from simple steatosis to nonalcoholic steatohepatitis (NASH)-related liver cirrhosis. Although liver biopsy is still the gold standard for the diagnosis of NAFLD, especially for the diagnosis of NASH, imaging methods have been increasingly accepted as noninvasive alternatives to liver biopsy. Ultrasonography is a well-established and cost-effective imaging technique for the diagnosis of hepatic steatosis, especially for screening a large population at risk of NAFLD. Ultrasonography has a reasonable accuracy in detecting moderate-to-severe hepatic steatosis although it is less accurate for detecting mild hepatic steatosis, operator-dependent, and rather qualitative. Computed tomography is not appropriate for general population assessment of hepatic steatosis given its inaccuracy in detecting mild hepatic steatosis and potential radiation hazard. However, computed tomography may be effective in specific clinical situations, such as evaluation of donor candidates for hepatic transplantation. Magnetic resonance spectroscopy and magnetic resonance imaging are now regarded as the most accurate practical methods of measuring liver fat in clinical practice, especially for longitudinal follow-up of patients with NAFLD. Ultrasound elastography and magnetic resonance elastography are increasingly used to evaluate the degree of liver fibrosis in patients with NAFLD and to differentiate NASH from simple steatosis. This article will review current imaging methods used to evaluate hepatic steatosis, including the diagnostic accuracy, limitations, and practical applicability of each method. It will also briefly describe the potential role of elastography techniques in the evaluation of patients with NAFLD. PMID:24966609

Use of shear waves for diagnosis and ablation monitoring of prostate cancer: a feasibility study

NASA Astrophysics Data System (ADS)

Gomez, A.; Rus, G.; Saffari, N.

2016-01-01

Prostate cancer remains as a major healthcare issue. Limitations in current diagnosis and treatment monitoring techniques imply that there is still a need for improvements. The efficacy of prostate cancer diagnosis is still low, generating under and over diagnoses. High intensity focused ultrasound ablation is an emerging treatment modality, which enables the noninvasive ablation of pathogenic tissue. Clinical trials are being carried out to evaluate its longterm efficacy as a focal treatment for prostate cancer. Successful treatment of prostate cancer using non-invasive modalities is critically dependent on accurate diagnostic means and is greatly benefited by a real-time monitoring system. While magnetic resonance imaging remains the gold standard for prostate imaging, its wider implementation for prostate cancer diagnosis remains prohibitively expensive. Conventional ultrasound is currently limited to guiding biopsy. Elastography techniques are emerging as a promising real-time imaging method, as cancer nodules are usually stiffer than adjacent healthy prostatic tissue. In this paper, a new transurethral approach is proposed, using shear waves for diagnosis and ablation monitoring of prostate cancer. A finite-difference time domain model is developed for studying the feasibility of the method, and an inverse problem technique based on genetic algorithms is proposed for reconstructing the location, size and stiffness parameters of the tumour. Preliminary results indicate that the use of shear waves for diagnosis and monitoring ablation of prostate cancer is feasible.

Leptospirosis.

PubMed

Slack, Andrew

2010-07-01

This article forms part of our travel medicine series for 2010, providing a summary of prevention strategies and vaccination for infections that may be acquired by travellers. The series aims to provide practical strategies to assist general practitioners in giving travel advice, as a synthesis of multiple information sources which must otherwise be consulted. Leptospirosis is one of the many diseases responsible for undifferentiated febrile illness, especially in the tropical regions or in the returned traveller. It is a disease of global importance, and knowledge in the disease is continually developing. The aim of this article is to provide clinicians with a concise review of the epidemiology, pathophysiology, clinical features, diagnosis, management and prevention of leptospirosis. Leptospirosis should be included in the broad differential diagnosis of febrile illness. The clinical manifestations of the disease vary from mild, nonspecific illness through to severe illness resulting in acute renal failure, hepatic failure and pulmonary haemorrhage. Diagnosis is dependant on accurate prediction of the time of infection: culture, polymerase chain reaction and serology may be used to confirm the diagnosis. Management is centred on prompt antibiotic therapy using doxycycline or intravenous penicillin G or intravenous ceftriaxone/cefotaxime. Prevention of leptospirosis revolves around the 'cover-wash-clean up' strategy.

Nucleic-acid testing, new platforms and nanotechnology for point-of-decision diagnosis of animal pathogens.

PubMed

Teles, Fernando; Fonseca, Luís

2015-01-01

Accurate disease diagnosis in animals is crucial for animal well-being but also for preventing zoonosis transmission to humans. In particular, livestock diseases may constitute severe threats to humans due to the particularly high physical contact and exposure and, also, be the cause of important economic losses, even in non-endemic countries, where they often arise in the form of rapid and devastating epidemics. Rapid diagnostic tests have been used for a long time in field situations, particularly during outbreaks. However, they mostly rely on serological approaches, which may confirm the exposure to a particular pathogen but may be inappropriate for point-of-decision (point-of-care) settings when emergency responses supported on early and accurate diagnosis are required. Moreover, they often exhibit modest sensitivity and hence significantly depend on later result confirmation in central or reference laboratories. The impressive advances observed in recent years in materials sciences and in nanotechnology, as well as in nucleic-acid synthesis and engineering, have led to an outburst of new in-the-bench and prototype tests for nucleic-acid testing towards point-of-care diagnosis of genetic and infectious diseases. Manufacturing, commercial, regulatory, and technical nature issues for field applicability more likely have hindered their wider entrance into veterinary medicine and practice than have fundamental science gaps. This chapter begins by outlining the current situation, requirements, difficulties, and perspectives of point-of-care tests for diagnosing diseases of veterinary interest. Nucleic-acid testing, particularly for the point of care, is addressed subsequently. A range of valuable signal transduction mechanisms commonly employed in proof-of-concept schemes and techniques born on the analytical chemistry laboratories are also described. As the essential core of this chapter, sections dedicated to the principles and applications of microfluidics, lab-on-a-chip, and nanotechnology for the development of point-of-care tests are presented. Microdevices already applied or under development for application in field diagnosis of animal diseases are reviewed.

A New Single-Step PCR Assay for the Detection of the Zoonotic Malaria Parasite Plasmodium knowlesi

PubMed Central

Lucchi, Naomi W.; Poorak, Mitra; Oberstaller, Jenna; DeBarry, Jeremy; Srinivasamoorthy, Ganesh; Goldman, Ira; Xayavong, Maniphet; da Silva, Alexandre J.; Peterson, David S.; Barnwell, John W.; Kissinger, Jessica; Udhayakumar, Venkatachalam

2012-01-01

Background Recent studies in Southeast Asia have demonstrated substantial zoonotic transmission of Plasmodium knowlesi to humans. Microscopically, P. knowlesi exhibits several stage-dependent morphological similarities to P. malariae and P. falciparum. These similarities often lead to misdiagnosis of P. knowlesi as either P. malariae or P. falciparum and PCR-based molecular diagnostic tests are required to accurately detect P. knowlesi in humans. The most commonly used PCR test has been found to give false positive results, especially with a proportion of P. vivax isolates. To address the need for more sensitive and specific diagnostic tests for the accurate diagnosis of P. knowlesi, we report development of a new single-step PCR assay that uses novel genomic targets to accurately detect this infection. Methodology and Significant Findings We have developed a bioinformatics approach to search the available malaria parasite genome database for the identification of suitable DNA sequences relevant for molecular diagnostic tests. Using this approach, we have identified multi-copy DNA sequences distributed in the P. knowlesi genome. We designed and tested several novel primers specific to new target sequences in a single-tube, non-nested PCR assay and identified one set of primers that accurately detects P. knowlesi. We show that this primer set has 100% specificity for the detection of P. knowlesi using three different strains (Nuri, H, and Hackeri), and one human case of malaria caused by P. knowlesi. This test did not show cross reactivity with any of the four human malaria parasite species including 11 different strains of P. vivax as well as 5 additional species of simian malaria parasites. Conclusions The new PCR assay based on novel P. knowlesi genomic sequence targets was able to accurately detect P. knowlesi. Additional laboratory and field-based testing of this assay will be necessary to further validate its utility for clinical diagnosis of P. knowlesi. PMID:22363751

[Molecular diagnosis of spinal muscular atrophy by multiplex ligation-dependent probe amplification].

PubMed

Zeng, Jian; Ke, Long-feng; Deng, Xiao-jun; Cai, Mei-ying; Tu, Xiang-dong; Lan, Feng-hua

2008-12-16

To investigate the effect of multiplex ligation-dependent probe amplification (MLPA) in molecular diagnosis of spinal muscular atrophy (SMA). Peripheral blood samples were collected from 13 SMA patients, 31 parents of SMA patients, 50 healthy individuals without family history of SMA, and 10 specimens of amniotic fluid from these families were collected too. Genomic DNA was analyzed by MLPA, conventional PCR-RFLP, and allele-specific PCR. In complete agreement with the results of conventional PCR-RFLP and allele-specific PCR, MLPA analysis showed that all of the 13 patients had homozygous deletion of the survival of motor neuron 1 (SMN1) gene, and there was significant difference between the SMA severity (type I to type III) and SMN2 copy number (P < 0.05). Of the 31 parents 29 (93.5%) had 1 copy of SMN1, 2 (6.5%) had 2 copies of SMN1. Of the 50 healthy individuals, 1 (2.0%) had 1 copy of SMN1, 48 (96.0%) had 2 copies of SMN1, and 1 (2.0%) had 3 copies. The SMN1 copy number of the parents was significantly higher than that of the healthy individuals (P < 0.01). Two of the 10 fetuses had homozygous deletion of SMN1. The MLPA technique has proved to be an accurate and reliable tool for the molecular diagnosis of SMA, both in patients and in healthy carriers.

Evaluation of common elbow pathologies: a focus on physical examination.

PubMed

Laratta, Joseph; Caldwell, Jon-Michael; Lombardi, Joseph; Levine, William; Ahmad, Christopher

2017-05-01

Elbow tendinopathy accounts for the majority of elbow pathology in patients presenting to upper extremity and sports medicine surgeons. With increased participation in overhead sports in an aging population, the incidence of elbow injuries has risen. A comprehensive knowledge of elbow anatomy and biomechanical function of the elbow complex is prerequisite in the assessment of patients with elbow injuries; however, a thorough understanding of alternative and confounding pathologies is essential for accurate diagnosis. Because tendinopathy, tendonitis, and tendon tears have an anatomic basis for their pathology, a targeted history and meticulous physical examination often yields an accurate clinical diagnosis. The importance of physical examination and provocative examination maneuvers must be stressed in a technologically advanced era where clinical diagnosis is too commonly attained solely by advanced imaging modalities. A revived dedication to the physical examination may enhance our ability to correctly diagnose various pathologies about the elbow. Early and accurate clinical diagnosis is the first step in the proper initiation of treatment modalities and improvement in overall patient outcome.

Suicide in bipolar disorder in a national English sample, 1996-2009: frequency, trends and characteristics.

PubMed

Clements, C; Morriss, R; Jones, S; Peters, S; Roberts, C; Kapur, N

2013-12-01

Bipolar disorder (BD) has been reported to be associated with high risk of suicide. We aimed to investigate the frequency and characteristics of suicide in people with BD in a national sample. Suicide in BD in England from 1996 to 2009 was explored using descriptive statistics on data collected by the National Confidential Inquiry into Suicide and Homicide by People with Mental Illness (NCI). Suicide cases with a primary diagnosis of BD were compared to suicide cases with any other primary diagnosis. During the study period 1489 individuals with BD died by suicide, an average of 116 cases/year. Compared to other primary diagnosis suicides, those with BD were more likely to be female, more than 5 years post-diagnosis, current/recent in-patients, to have more than five in-patient admissions, and to have depressive symptoms. In BD suicides the most common co-morbid diagnoses were personality disorder and alcohol dependence. Approximately 40% were not prescribed mood stabilizers at the time of death. More than 60% of BD suicides were in contact with services the week prior to suicide but were assessed as low risk. Given the high rate of suicide in BD and the low estimates of risk, it is important that health professionals can accurately identify patients most likely to experience poor outcomes. Factors such as alcohol dependence/misuse, personality disorder, depressive illness and current/recent in-patient admission could characterize a high-risk group. Future studies need to operationalize clinically useful indicators of suicide risk in BD.

Kawasaki disease and toxic shock syndrome--at last the etiology is clear?

PubMed

Curtis, Nigel

2004-01-01

A decade after the superantigen hypothesis for KD was first suggested, it has still not been either proven or refuted conclusively. Although initial optimism for the hypothesis was quashed by a series of published papers apparently refuting the idea, in the last few years there have been a number of good studies providing evidence in support of the superantigen hypothesis. Whether this renewed enthusiasm is justified will hopefully become clear in the near future. Ultimately, accurate diagnosis, more targeted treatment, and preventative strategies depend on the unraveling of the immunopathogenesis of this disease.

Management of pedal puncture wounds.

PubMed

Belin, Ronald; Carrington, Scott

2012-07-01

Puncture wounds of the foot are a common injury, and infection associated with these injuries may result in considerable morbidity. The pathophysiology and management of a puncture wound is dependent on the material that punctures the foot, the location and depth of the wound, time to presentation, footwear, and underlying health status of the patient. Puncture wounds should not be treated lightly, so accurate diagnosis, assessment, and treatment are paramount. Early incision and drainage, vaccination, and the use of proper antibiotics can lead to positive outcomes and prevent limb-threatening circumstances. Copyright © 2012 Elsevier Inc. All rights reserved.

Making a nutritional assessment.

PubMed Central

Pencharz, P. B.

1982-01-01

The assessment of nutritional deficiencies depends on both clinical and laboratory diagnosis. The standard physical examination should be supplemented by nutritional anthropometry, consisting of accurate growth and skinfold measurements. A careful dietary history, preferably taken by a dietitian, is necessary to construct a record of past nutrient intake. Since biochemical abnormalities often appear before clinical signs of nutritional deficiency a battery of biochemical tests is sometimes needed. In unusual cases newer techniques of assessing body composition or immunologic or physiologic function may be required. In all cases the patient's physical state, nutritional intake and biochemical status must be related to age and sex standards. PMID:7139499

Diagnosis and Diagnostic Imaging of Anal Canal Cancer.

PubMed

Ciombor, Kristen K; Ernst, Randy D; Brown, Gina

2017-01-01

Anal canal cancer is an uncommon malignancy but one that is often curable with optimal therapy. Owing to its unique location, histology, risk factors, and usual presentation, a careful diagnostic approach is warranted. This approach includes an excellent history and physical examination, including digital rectal examination, laboratory data, and comprehensive imaging. Anal cancer staging and formulation of a treatment plan depends on accurate imaging data. Modern radiographic techniques have improved staging quality and accuracy, and a thorough knowledge of anal anatomy is paramount to the optimal multidisciplinary treatment of this disease. Copyright © 2016 Elsevier Inc. All rights reserved.

Vaginitis.

PubMed

Friedrich, E G

1985-06-01

Vaginitis is one of the most common complaints of women in the United States today. About 90% of patients with this problem suffer from infection of the vagina caused by Candida, Gardnerella, or Trichomonas. The diagnosis and effective treatment of these common infections depend on accurate identification of the entity, effective specific therapy, and restoration of the normal ecosystem of the vagina. At the same time women should be made aware that not all discharge means infection and that any attempts at self-treatment may only worsen their condition. Proper hygiene habits, dietary control, and management of stress are all helpful factors in the control of recurrent vaginal infections.

Non-transfusion-dependent thalassemias

PubMed Central

Musallam, Khaled M.; Rivella, Stefano; Vichinsky, Elliott; Rachmilewitz, Eliezer A.

2013-01-01

Non-transfusion-dependent thalassemias include a variety of phenotypes that, unlike patients with beta (β)-thalassemia major, do not require regular transfusion therapy for survival. The most commonly investigated forms are β-thalassemia intermedia, hemoglobin E/β-thalassemia, and α-thalassemia intermedia (hemoglobin H disease). However, transfusion-independence in such patients is not without side effects. Ineffective erythropoiesis and peripheral hemolysis, the hallmarks of disease process, lead to a variety of subsequent pathophysiologies including iron overload and hypercoagulability that ultimately lead to a number of serious clinical morbidities. Thus, prompt and accurate diagnosis of non-transfusion-dependent thalassemia is essential to ensure early intervention. Although several management options are currently available, the need to develop more novel therapeutics is justified by recent advances in our understanding of the mechanisms of disease. Such efforts require wide international collaboration, especially since non-transfusion-dependent thalassemias are no longer bound to low- and middle-income countries but have spread to large multiethnic cities in Europe and the Americas due to continued migration. PMID:23729725

MR imaging for diagnostic evaluation of encephalopathy in the newborn.

PubMed

Shroff, Manohar M; Soares-Fernandes, João P; Whyte, Hilary; Raybaud, Charles

2010-05-01

Magnetic resonance (MR) imaging is used with increasing frequency to evaluate the neonatal brain because it can provide important diagnostic and prognostic information that is needed for optimal treatment and appropriate counseling. Special care must be taken in preparing encephalopathic neonates for an MR study, transporting them from the intensive care unit, monitoring their vital signs, and optimizing MR sequences and protocols. Moreover, to accurately interpret the findings, specific knowledge is needed about the normal MR imaging appearances of the physiologic processes of myelination, cell migration, and sulcation, as well as patterns of injury, in the neonatal brain at various stages of gestational development. Hypoxic-ischemic injury, the most common cause of neonatal encephalopathy, has characteristic appearances that depend on the severity and duration of the insult as well as the stage of brain development. Diffusion-weighted MR imaging and MR spectroscopy depict abnormalities earlier than do conventional MR imaging sequences. However, diffusion-weighted imaging, if performed in the first 24 hours after the insult, might lead to underestimation of the extent of injury. When the MR findings are atypical, the differential diagnosis of neonatal encephalopathy also should include congenital and metabolic disorders and infectious diseases. Despite recent advances in the MR imaging-based characterization of these conditions, the clinical history must be borne in mind to achieve an accurate diagnosis.

Mucinous Cystadenocarcinoma Co-Existing with Mature Cystic Teratoma : A Rare Case Report

PubMed Central

Yeshvanth, Sunil Kumar; Shrinivas, Teerthanath; Agrawal, Tanu; Shetty, Jayaprakash K

2015-01-01

Co-existence of mucinous cystadenocarcinoma with mature cystic teratoma in the same ovary is very rare. We report a case in a 48-year-old female who presented with left abdominal mass. CT scan revealed a heterogeneous enhancing left ovarian mass lesion. Clinical diagnosis of complex ovarian cyst was made, later underwent laparotomy and histologically diagnosed as mucinous cystadenocarcinoma (grade 2) co-existing with benign cystic teratoma, stage Ia (FIGO) of the left ovary. Six months after surgery, the patient is doing well without any recurrence or metastasis. Hence, histopathological examination plays a significant role in accurate diagnosis and management of the patient. So, we should be aware of these rare co-existent tumours and meticulous dissection should be done to look for any synchronous tumours or malignant areas; since management and prognosis will vary significantly depending upon the microscopic type and stage. PMID:26393136

Shin pain in athletes - assessment and management.

PubMed

Blackman, Paul

2010-01-01

Shin pain is a common complaint among running athletes and can be caused by bony, muscular, vascular or neural pathology. This article discusses the likely causes, assessment and management of shin pain in athletes presenting in the general practice setting. Accurate diagnosis is important as treatment differs depending on the cause. The characteristics of the pain and examination findings after exercise give strong clues to the diagnosis; further investigation may be unnecessary. Bony stress reactions and fractures are the most common cause of shin pain; patients describe a 'jarring' sensation along the bone margin with heel strike. Other causes include recurrent exertional compartment syndrome (RECS), tenosynovitis, neurological entrapment and rarely, vascular entrapment. Symptoms of vascular entrapment may be similar to RECS and this may cause diagnostic confusion. Increased bone stress in athletes is largely due to inappropriate training program design and can usually be alleviated by reducing impact loading until pain resolves.

[Stereotactic biopsy in the accurate diagnosis of lesions in the brain stem and deep brain].

PubMed

Qin, F; Huang, Z C; Cai, M Q; Xu, X F; Lu, T T; Dong, Q; Wu, A M; Lu, Z Z; Zhao, C; Guo, Y

2018-06-12

Objective: To investigate the value of stereotactic biopsy in the accurate diagnosis of lesions in the brain stem and deep brain. Methods: A total of 29 consecutive patients who underwent stereotactic biopsy of brainstem and deep brain lesions between May 2012 and January 2018 were retrospectively reviewed. The Cosman-Roberts-Wells (CRW) stereotactic frame was installed under local anesthesia. Thin-layer CT and MRI scanning were performed. Target coordinates were calculated by inputting CT-MRI data into the radionics surgical planning system. The individualized puncture path was designed according to the location of the lesions and the characteristics of the image. Target distributions were as follows: 12 cases of midbrain or pons, 2 cases of internal capsule, 3 cases of thalamus, 12 cases of basal ganglia. The biopsy samples were used for further pathological and/or genetic diagnosis. Results: Twenty-eight of the 29 cases (96.6%) were diagnosed accurately by histopathology and genomic examination following stereotactic biopsy. Pathological results were as follows: 8 cases of lymphoma, 7 cases of glioma, 4 cases of demyelination, 2 cases of germ cell tumor, 2 cases of metastatic tumor, 1 cases of cerebral sparganosis, 1 case of tuberculous granuloma, 1 case of hereditary prion disease, 1 case of glial hyperplasia, 1 case of leukemia. The accurate diagnosis of one case required a combination of histopathology and genomic examination. Undefined diagnosis was still made in 1 cases (3.45%) after biopsy. After biopsy, there were 2 cases (6.9%) with symptomatic slight hemorrhage, 1 case (3.45%) with symptomatic severe hemorrhage, and 1 cass (3.45%) with permanent neurological dysfunction. No one died because of surgery or surgical complications. Conclusions: Stereotactic biopsy is fast, safe and minimally invasive. It is an ideal strategy for accurate diagnosis of lesions in brain stem and deep brain.

Diagnostic quality driven physiological data collection for personal healthcare.

PubMed

Jea, David; Balani, Rahul; Hsu, Ju-Lan; Cho, Dae-Ki; Gerla, Mario; Srivastava, Mani B

2008-01-01

We believe that each individual is unique, and that it is necessary for diagnosis purpose to have a distinctive combination of signals and data features that fits the personal health status. It is essential to develop mechanisms for reducing the amount of data that needs to be transferred (to mitigate the troublesome periodically recharging of a device) while maintaining diagnostic accuracy. Thus, the system should not uniformly compress the collected physiological data, but compress data in a personalized fashion that preserves the 'important' signal features for each individual such that it is enough to make the diagnosis with a required high confidence level. We present a diagnostic quality driven mechanism for remote ECG monitoring, which enables a notation of priorities encoded into the wave segments. The priority is specified by the diagnosis engine or medical experts and is dynamic and individual dependent. The system pre-processes the collected physiological information according to the assigned priority before delivering to the backend server. We demonstrate that the proposed approach provides accurate inference results while effectively compressing the data.

Reliability of visual diagnosis of endometriosis.

PubMed

Fernando, Shavi; Soh, Pei Qian; Cooper, Michael; Evans, Susan; Reid, Geoffrey; Tsaltas, Jim; Rombauts, Luk

2013-01-01

To determine whether accuracy of visual diagnosis of endometriosis at laparoscopy is determined by stage of disease. Prospective longitudinal cohort study (Canadian Task Force classification II-2). Tertiary referral centers in three Australian states. Of 1439 biopsy specimens, endometriosis was proved in at least one specimen in 431 patients. Laparoscopy with visual diagnosis and staging of endometriosis followed by histopathologic analysis and confirmation. Operations were performed by five experienced laparoscopic gynecologists. Histopathologic confirmation of visual diagnosis of endometriosis adjusted for significant covariates. Endometriosis was accurately diagnosed in 49.7% of American Society for Reproductive Medicine (ASRM) stage I, which was significantly less accurate than for other stages of endometriosis. Deep endometriosis was more likely to be diagnosed accurately than superficial endometriosis (adjusted odds ratio, 2.51; 95% confidence interval, 1.50-4.18; p < .01). Lesion volume was also predictive, with larger lesions diagnosed more accurately than smaller lesions. In general, lesion site did not greatly influence accuracy except for superficial ovarian lesions, which were more likely to be incorrectly diagnosed visually as endometriosis (adjusted odds ratio, 0.16; 95% confidence interval, 0.06-0.41; p < .01). There was no statistically significant difference in accuracy between the gynecologic surgeons. The accuracy of visual diagnosis of endometriosis was substantially influenced by American Society of Reproductive Medicine stage, the depth and volume of the lesion, and to a lesser extent the location of the lesion. Crown Copyright © 2013. Published by Elsevier Inc. All rights reserved.

Automatic grade classification of Barretts Esophagus through feature enhancement

NASA Astrophysics Data System (ADS)

Ghatwary, Noha; Ahmed, Amr; Ye, Xujiong; Jalab, Hamid

2017-03-01

Barretts Esophagus (BE) is a precancerous condition that affects the esophagus tube and has the risk of developing esophageal adenocarcinoma. BE is the process of developing metaplastic intestinal epithelium and replacing the normal cells in the esophageal area. The detection of BE is considered difficult due to its appearance and properties. The diagnosis is usually done through both endoscopy and biopsy. Recently, Computer Aided Diagnosis systems have been developed to support physicians opinion when facing difficulty in detection/classification in different types of diseases. In this paper, an automatic classification of Barretts Esophagus condition is introduced. The presented method enhances the internal features of a Confocal Laser Endomicroscopy (CLE) image by utilizing a proposed enhancement filter. This filter depends on fractional differentiation and integration that improve the features in the discrete wavelet transform of an image. Later on, various features are extracted from each enhanced image on different levels for the multi-classification process. Our approach is validated on a dataset that consists of a group of 32 patients with 262 images with different histology grades. The experimental results demonstrated the efficiency of the proposed technique. Our method helps clinicians for more accurate classification. This potentially helps to reduce the need for biopsies needed for diagnosis, facilitate the regular monitoring of treatment/development of the patients case and can help train doctors with the new endoscopy technology. The accurate automatic classification is particularly important for the Intestinal Metaplasia (IM) type, which could turn into deadly cancerous. Hence, this work contributes to automatic classification that facilitates early intervention/treatment and decreasing biopsy samples needed.

Rapid diagnosis of sepsis with TaqMan-Based multiplex real-time PCR.

PubMed

Liu, Chang-Feng; Shi, Xin-Ping; Chen, Yun; Jin, Ye; Zhang, Bing

2018-02-01

The survival rate of septic patients mainly depends on a rapid and reliable diagnosis. A rapid, broad range, specific and sensitive quantitative diagnostic test is the urgent need. Thus, we developed a TaqMan-Based Multiplex real-time PCR assays to identify bloodstream pathogens within a few hours. Primers and TaqMan probes were designed to be complementary to conserved regions in the 16S rDNA gene of different kinds of bacteria. To evaluate accurately, sensitively, and specifically, the known bacteria samples (Standard strains, whole blood samples) are determined by TaqMan-Based Multiplex real-time PCR. In addition, 30 blood samples taken from patients with clinical symptoms of sepsis were tested by TaqMan-Based Multiplex real-time PCR and blood culture. The mean frequency of positive for Multiplex real-time PCR was 96% at a concentration of 100 CFU/mL, and it was 100% at a concentration greater than 1000 CFU/mL. All the known blood samples and Standard strains were detected positively by TaqMan-Based Multiplex PCR, no PCR products were detected when DNAs from other bacterium were used in the multiplex assay. Among the 30 patients with clinical symptoms of sepsis, 18 patients were confirmed positive by Multiplex real-time PCR and seven patients were confirmed positive by blood culture. TaqMan-Based Multiplex real-time PCR assay with highly sensitivity, specificity and broad detection range, is a rapid and accurate method in the detection of bacterial pathogens of sepsis and should have a promising usage in the diagnosis of sepsis. © 2017 Wiley Periodicals, Inc.

Breast segmentation in MR images using three-dimensional spiral scanning and dynamic programming

NASA Astrophysics Data System (ADS)

Jiang, Luan; Lian, Yanyun; Gu, Yajia; Li, Qiang

2013-03-01

Magnetic resonance (MR) imaging has been widely used for risk assessment and diagnosis of breast cancer in clinic. To develop a computer-aided diagnosis (CAD) system, breast segmentation is the first important and challenging task. The accuracy of subsequent quantitative measurement of breast density and abnormalities depends on accurate definition of the breast area in the images. The purpose of this study is to develop and evaluate a fully automated method for accurate segmentation of breast in three-dimensional (3-D) MR images. A fast method was developed to identify bounding box, i.e., the volume of interest (VOI), for breasts. A 3-D spiral scanning method was used to transform the VOI of each breast into a single two-dimensional (2-D) generalized polar-coordinate image. Dynamic programming technique was applied to the transformed 2-D image for delineating the "optimal" contour of the breast. The contour of the breast in the transformed 2-D image was utilized to reconstruct the segmentation results in the 3-D MR images using interpolation and lookup table. The preliminary results on 17 cases show that the proposed method can obtain accurate segmentation of the breast based on subjective observation. By comparing with the manually delineated region of 16 breasts in 8 cases, an overlap index of 87.6% +/- 3.8% (mean +/- SD), and a volume agreement of 93.4% +/- 4.5% (mean +/- SD) were achieved, respectively. It took approximately 3 minutes for our method to segment the breast in an MR scan of 256 slices.

Deep neural networks: A promising tool for fault characteristic mining and intelligent diagnosis of rotating machinery with massive data

NASA Astrophysics Data System (ADS)

Jia, Feng; Lei, Yaguo; Lin, Jing; Zhou, Xin; Lu, Na

2016-05-01

Aiming to promptly process the massive fault data and automatically provide accurate diagnosis results, numerous studies have been conducted on intelligent fault diagnosis of rotating machinery. Among these studies, the methods based on artificial neural networks (ANNs) are commonly used, which employ signal processing techniques for extracting features and further input the features to ANNs for classifying faults. Though these methods did work in intelligent fault diagnosis of rotating machinery, they still have two deficiencies. (1) The features are manually extracted depending on much prior knowledge about signal processing techniques and diagnostic expertise. In addition, these manual features are extracted according to a specific diagnosis issue and probably unsuitable for other issues. (2) The ANNs adopted in these methods have shallow architectures, which limits the capacity of ANNs to learn the complex non-linear relationships in fault diagnosis issues. As a breakthrough in artificial intelligence, deep learning holds the potential to overcome the aforementioned deficiencies. Through deep learning, deep neural networks (DNNs) with deep architectures, instead of shallow ones, could be established to mine the useful information from raw data and approximate complex non-linear functions. Based on DNNs, a novel intelligent method is proposed in this paper to overcome the deficiencies of the aforementioned intelligent diagnosis methods. The effectiveness of the proposed method is validated using datasets from rolling element bearings and planetary gearboxes. These datasets contain massive measured signals involving different health conditions under various operating conditions. The diagnosis results show that the proposed method is able to not only adaptively mine available fault characteristics from the measured signals, but also obtain superior diagnosis accuracy compared with the existing methods.

Diagnostic digital cytopathology: Are we ready yet?

PubMed Central

House, Jarret C.; Henderson-Jackson, Evita B.; Johnson, Joseph O.; Lloyd, Mark C.; Dhillon, Jasreman; Ahmad, Nazeel; Hakam, Ardeshir; Khalbuss, Walid E.; Leon, Marino E.; Chhieng, David; Zhang, Xiaohui; Centeno, Barbara A.; Bui, Marilyn M.

2013-01-01

Background: The cytology literature relating to diagnostic accuracy using whole slide imaging is scarce. We studied the diagnostic concordance between glass and digital slides among diagnosticians with different profiles to assess the readiness of adopting digital cytology in routine practice. Materials and Methods: This cohort consisted of 22 de-identified previously screened and diagnosed cases, including non-gynecological and gynecological slides using standard preparations. Glass slides were digitalized using Aperio ScanScope XT (×20 and ×40). Cytopathologists with (3) and without (3) digital experience, cytotechnologists (4) and senior pathology residents (2) diagnosed the digital slides independently first and recorded the results. Glass slides were read and recorded separately 1-3 days later. Accuracy of diagnosis, time to diagnosis and diagnostician's profile were analyzed. Results: Among 22 case pairs and four study groups, correct diagnosis (93% vs. 86%) was established using glass versus digital slides. Both methods more (>95%) accurately diagnosed positive cases than negatives. Cytopathologists with no digital experience were the most accurate in digital diagnosis, even the senior members. Cytotechnologists had the fastest diagnosis time (3 min/digital vs. 1.7 min/glass), but not the best accuracy. Digital time was 1.5 min longer than glass-slide time/per case for cytopathologists and cytotechnologists. Senior pathology residents were slower and less accurate with both methods. Cytopathologists with digital experience ranked 2nd fastest in time, yet last in accuracy for digital slides. Conclusions: There was good overall diagnostic agreement between the digital whole-slide images and glass slides. Although glass slide diagnosis was more accurate and faster, the results of technologists and pathologists with no digital cytology experience suggest that solid diagnostic ability is a strong indicator for readiness of digital adoption. PMID:24392242

Enhancement of hepatitis virus immunoassay outcome predictions in imbalanced routine pathology data by data balancing and feature selection before the application of support vector machines.

PubMed

Richardson, Alice M; Lidbury, Brett A

2017-08-14

Data mining techniques such as support vector machines (SVMs) have been successfully used to predict outcomes for complex problems, including for human health. Much health data is imbalanced, with many more controls than positive cases. The impact of three balancing methods and one feature selection method is explored, to assess the ability of SVMs to classify imbalanced diagnostic pathology data associated with the laboratory diagnosis of hepatitis B (HBV) and hepatitis C (HCV) infections. Random forests (RFs) for predictor variable selection, and data reshaping to overcome a large imbalance of negative to positive test results in relation to HBV and HCV immunoassay results, are examined. The methodology is illustrated using data from ACT Pathology (Canberra, Australia), consisting of laboratory test records from 18,625 individuals who underwent hepatitis virus testing over the decade from 1997 to 2007. Overall, the prediction of HCV test results by immunoassay was more accurate than for HBV immunoassay results associated with identical routine pathology predictor variable data. HBV and HCV negative results were vastly in excess of positive results, so three approaches to handling the negative/positive data imbalance were compared. Generating datasets by the Synthetic Minority Oversampling Technique (SMOTE) resulted in significantly more accurate prediction than single downsizing or multiple downsizing (MDS) of the dataset. For downsized data sets, applying a RF for predictor variable selection had a small effect on the performance, which varied depending on the virus. For SMOTE, a RF had a negative effect on performance. An analysis of variance of the performance across settings supports these findings. Finally, age and assay results for alanine aminotransferase (ALT), sodium for HBV and urea for HCV were found to have a significant impact upon laboratory diagnosis of HBV or HCV infection using an optimised SVM model. Laboratories looking to include machine learning via SVM as part of their decision support need to be aware that the balancing method, predictor variable selection and the virus type interact to affect the laboratory diagnosis of hepatitis virus infection with routine pathology laboratory variables in different ways depending on which combination is being studied. This awareness should lead to careful use of existing machine learning methods, thus improving the quality of laboratory diagnosis.

Laboratory Diagnosis of Pertussis

PubMed Central

Schellekens, Joop F. P.; Mooi, Frits R.

2015-01-01

SUMMARY The introduction of vaccination in the 1950s significantly reduced the morbidity and mortality of pertussis. However, since the 1990s, a resurgence of pertussis has been observed in vaccinated populations, and a number of causes have been proposed for this phenomenon, including improved diagnostics, increased awareness, waning immunity, and pathogen adaptation. The resurgence of pertussis highlights the importance of standardized, sensitive, and specific laboratory diagnoses, the lack of which is responsible for the large differences in pertussis notifications between countries. Accurate laboratory diagnosis is also important for distinguishing between the several etiologic agents of pertussis-like diseases, which involve both viruses and bacteria. If pertussis is diagnosed in a timely manner, antibiotic treatment of the patient can mitigate the symptoms and prevent transmission. During an outbreak, timely diagnosis of pertussis allows prophylactic treatment of infants too young to be (fully) vaccinated, for whom pertussis is a severe, sometimes fatal disease. Finally, reliable diagnosis of pertussis is required to reveal trends in the (age-specific) disease incidence, which may point to changes in vaccine efficacy, waning immunity, and the emergence of vaccine-adapted strains. Here we review current approaches to the diagnosis of pertussis and discuss their limitations and strengths. In particular, we emphasize that the optimal diagnostic procedure depends on the stage of the disease, the age of the patient, and the vaccination status of the patient. PMID:26354823

[Diagnosis and treatment of heparin-induced thrombocytopenia (HIT) based on its atypical immunological features].

PubMed

Miyata, Shigeki; Maeda, Takuma

2016-03-01

Heparin-induced thrombocytopenia (HIT) is a prothrombotic side effect of heparin therapy caused by HIT antibodies, i.e., anti-platelet factor 4 (PF4)/heparin IgG with platelet-activating properties. For serological diagnosis, antigen immunoassays are commonly used worldwide. However, such assays do not indicate their platelet-activating properties, leading to low specificity for the HIT diagnosis. Therefore, over-diagnosis is currently the most serious problem associated with HIT. The detection of platelet-activating antibodies using a washed platelet activation assay is crucial for appropriate HIT diagnosis. Recent advances in our understanding of the pathogenesis of HIT include it having several clinical features atypical for an immune-mediated disease. Heparin-naïve patients can develop IgG antibodies as early as day 4, as in a secondary immune response. Evidence for an anamnestic response on heparin re-exposure is lacking. In addition, HIT antibodies are relatively short-lived, unlike those in a secondary immune response. These lines of evidence suggest that the mechanisms underlying HIT antibody formation may be compatible with a non-T cell-dependent immune reaction. These atypical clinical and serological features should be carefully considered while endeavoring to accurately diagnose HIT, which leads to appropriate therapies such as immediate administration of an alternative anticoagulant to prevent thromboembolic events and re-administration of heparin during surgery involving cardiopulmonary bypass when HIT antibodies are no longer detectable.

Predictors of specific phobia in children with Williams syndrome.

PubMed

Pitts, C H; Klein-Tasman, B P; Osborne, J W; Mervis, C B

2016-10-01

Specific phobia (SP) is the most common anxiety disorder among children with Williams syndrome (WS); prevalence rates derived from Diagnostic and Statistical Manual of Mental Disorders-based diagnostic interviews range from 37% to 56%. We evaluated the effects of gender, age, intellectual abilities and/or behaviour regulation difficulties on the likelihood that a child with WS would be diagnosed with SP. A total of 194 6-17 year-olds with WS were evaluated. To best characterise the relations between the predictors and the probability of a SP diagnosis, we explored not only possible linear effects but also curvilinear effects. No gender differences were detected. As age increased, the likelihood of receiving a SP diagnosis decreased. As IQ increased, the probability of receiving a SP diagnosis also decreased. Behaviour regulation difficulties were the strongest predictor of a positive diagnosis. A quadratic relation was detected: The probability of receiving a SP diagnosis gradually rose as behaviour regulation difficulties increased. However, once behaviour regulation difficulties approached the clinical range, the probability of receiving a SP diagnosis asymptoted at a high level. Children with behaviour regulation difficulties in or just below the clinical range were at the greatest risk of developing SP. These findings highlight the value of large samples and the importance of evaluating for nonlinear effects to provide accurate model specification when characterising relations among a dependent variable and possible predictors. © 2016 MENCAP and International Association of the Scientific Study of Intellectual and Developmental Disabilities and John Wiley & Sons Ltd.

Computer-Aided Diagnosis of Acute Lymphoblastic Leukaemia

PubMed Central

2018-01-01

Leukaemia is a form of blood cancer which affects the white blood cells and damages the bone marrow. Usually complete blood count (CBC) and bone marrow aspiration are used to diagnose the acute lymphoblastic leukaemia. It can be a fatal disease if not diagnosed at the earlier stage. In practice, manual microscopic evaluation of stained sample slide is used for diagnosis of leukaemia. But manual diagnostic methods are time-consuming, less accurate, and prone to errors due to various human factors like stress, fatigue, and so forth. Therefore, different automated systems have been proposed to wrestle the glitches in the manual diagnostic methods. In recent past, some computer-aided leukaemia diagnosis methods are presented. These automated systems are fast, reliable, and accurate as compared to manual diagnosis methods. This paper presents review of computer-aided diagnosis systems regarding their methodologies that include enhancement, segmentation, feature extraction, classification, and accuracy. PMID:29681996

[Approach to diagnosis and management of myeloproliferative neoplasm variants].

PubMed

Mitsumori, Toru; Kirito, Keita

2015-08-01

Myeloproliferative neoplasm (MPN) variants are defined as relatively uncommon myeloid neoplasms which do not meet the criteria for either classical MPN or myelodysplastic syndrome. Due to the lack of specific markers, it has been challenging to accurately diagnose these malignant diseases. Recent studies have revealed new genetic abnormalities in MPN variants. These research advances are anticipated to open new approaches to not only achieving accurate diagnosis but also novel therapeutic options for these diseases.

Realization of a CORDIC-Based Plug-In Accelerometer Module for PSG System in Head Position Monitoring for OSAS Patients

PubMed Central

Chou, Wen-Cheng; Shiao, Tsu-Hui; Shiao, Guang-Ming; Luo, Chin-Shan

2017-01-01

Overnight polysomnography (PSG) is currently the standard diagnostic procedure for obstructive sleep apnea (OSA). It has been known that monitoring of head position in sleep is crucial not only for the diagnosis (positional sleep apnea) but also for the management of OSA (positional therapy). However, there are no sensor systems available clinically to hook up with PSG for accurate head position monitoring. In this paper, an accelerometer-based sensing system for accurate head position monitoring is developed and realized. The core CORDIC- (COordinate Rotation DIgital Computer-) based tilting sensing algorithm is realized in the system to quickly and accurately convert accelerometer raw data into the desired head position tilting angles. The system can hook up with PSG devices for diagnosis to have head position information integrated with other PSG-monitored signals. It has been applied in an IRB test in Taipei Veterans General Hospital and has been proved that it can meet the medical needs of accurate head position monitoring for PSG diagnosis. PMID:29065608

Optimized angiotensin-converting enzyme activity assay for the accurate diagnosis of sarcoidosis.

PubMed

Csongrádi, Alexandra; Enyedi, Attila; Takács, István; Végh, Tamás; Mányiné, Ivetta S; Pólik, Zsófia; Altorjay, István Tibor; Balla, József; Balla, György; Édes, István; Kappelmayer, János; Tóth, Attila; Papp, Zoltán; Fagyas, Miklós

2018-06-27

Serum angiotensin-converting enzyme (ACE) activity determination can aid the early diagnosis of sarcoidosis. We aimed to optimize a fluorescent kinetic assay for ACE activity by screening the confounding effects of endogenous ACE inhibitors and interfering factors. Genotype-dependent and genotype-independent reference values of ACE activity were established, and their diagnostic accuracies were validated in a clinical study. Internally quenched fluorescent substrate, Abz-FRK(Dnp)P-OH was used for ACE-activity measurements. A total of 201 healthy individuals and 59 presumably sarcoidotic patients were enrolled into this study. ACE activity and insertion/deletion (I/D) genotype of the ACE gene were determined. Here we report that serum samples should be diluted at least 35-fold to eliminate the endogenous inhibitor effect of albumin. No significant interferences were detected: up to a triglyceride concentration of 16 mM, a hemoglobin concentration of 0.71 g/L and a bilirubin concentration of 150 μM. Genotype-dependent reference intervals were considered as 3.76-11.25 U/L, 5.22-11.59 U/L, 7.19-14.84 U/L for II, ID and DD genotypes, respectively. I/D genotype-independent reference interval was established as 4.85-13.79 U/L. An ACE activity value was considered positive for sarcoidosis when it exceeded the upper limit of the reference interval. The optimized assay with genotype-dependent reference ranges resulted in 42.5% sensitivity, 100% specificity, 100% positive predictive value and 32.4% negative predictive value in the clinical study, whereas the genotype-independent reference range proved to have inferior diagnostic efficiency. An optimized fluorescent kinetic assay of serum ACE activity combined with ACE I/D genotype determination is an alternative to invasive biopsy for confirming the diagnosis of sarcoidosis in a significant percentage of patients.

The use of biomarkers and molecular methods for the earlier diagnosis of invasive aspergillosis in immunocompromised patients.

PubMed

Ambasta, Anshula; Carson, Julie; Church, Deirdre L

2015-08-01

Invasive aspergillosis (IA) is an opportunistic infection that is often life threatening in the immunocompromised host. Early diagnosis is critical, especially given the efficacy and availability of several new anti-fungal therapies. Current (2008) diagnostic criteria have limited ability to detect early infection and are aimed at establishing disease. Although histopathology and culture techniques have traditionally been used to make a proven diagnosis of IA, their dependence on tissue samples and slow turnaround times hamper early confirmation of IA. Serologic detection of circulating galactomannan and 1,3-β-D-glucan fungal biomarkers show promise for improving the diagnosis of IA, and their use is included in the EORTC/MSG diagnostic criteria for IA. Numerous studies have evaluated the diagnostic performance of these two biomarkers and shown that they have suboptimal sensitivity when used alone for early diagnosis of proven IA. Currently available molecular assays also suffer from a lack of standardization. Evaluation of the use of different combinations of test methods to enhance diagnostic accuracy is also being done but prompt, accurate diagnosis of IA remains a clinical and diagnostic challenge. The clinical validity and limitations of biomarkers and current molecular methods for the early diagnosis of IA are summarized in this review with respect to the different patient populations at risk for this serious infection. © The Author 2015. Published by Oxford University Press on behalf of The International Society for Human and Animal Mycology. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

Diagnostic accuracy of Parkinson's disease and atypical parkinsonism in nursing homes.

PubMed

Weerkamp, N J; Tissingh, G; Poels, P J E; Zuidema, S U; Munneke, M; Koopmans, R T C M; Bloem, B R

2014-11-01

Management of Parkinson's disease (PD) and atypical parkinsonism in nursing homes depends on a timely and accurate diagnosis. However, little is known about the diagnostic accuracy of these parkinsonian syndromes in nursing homes. We examined this issue in a large group of Dutch nursing home residents. Twelve large nursing home organizations in the Netherlands accounting for 100 nursing homes with a total population of 5480 residents participated. Residents with PD or atypical parkinsonism were identified according to their nursing home medical chart diagnosis. Additionally, local pharmacists provided a list of all residents using antiparkinson medication. We compared the admission diagnosis to a clinical diagnosis made in the study, based upon interview and detailed neurological examination by movement disorders experts. Diagnoses were based on accepted clinical criteria for PD and atypical parkinsonism. In the total population of 5480 residents, 258 had previously been diagnosed with a form of parkinsonism according to their medical record. In 53 of these residents (20.5%) we changed or rejected the diagnosis. Specifically, we found no parkinsonism in 22 of these 53 residents (8.5% of all patients with suspected parkinsonism). In the remaining 31 residents (12%), we established a new diagnosis within the parkinsonian spectrum. In a large population of Dutch nursing home residents, 20% of diagnoses within the parkinsonian spectrum were inaccurate. Almost 9% of residents had inadvertently received a diagnosis of parkinsonism. Better recognition of parkinsonism in nursing homes is important, because of the consequences for management and prognosis. Copyright © 2014. Published by Elsevier Ltd.

Severe Disruption of Water and Electrolyte Balance After Appendectomy: A Case Report.

PubMed

Bossong, Olga; Rudin, Christoph; Szinnai, Gabor; Erb, Thomas O; Moll, Jens

2018-06-11

Perioperative derangements of fluid and electrolyte homeostasis are rare complications in healthy children. Nonetheless, early diagnosis and treatment are mandatory to avoid a potentially life-threatening situation. However, the variety of underlying pathologies may prove to make accurate diagnosis challenging. This case report presents the management of an unexpected occurrence of a perioperative partial diabetes insipidus with massive fluid loss. Diagnostic and therapeutic procedures are discussed in the context of laboratory findings, and an overview of the existing literature is given. Finally, we emphasize that a multidisciplinary approach is most appropriate for diagnosis, accurate treatment, and follow-up of the patient.

Clinical assessment of patients with orofacial pain and temporomandibular disorders.

PubMed

Stern, Ilanit; Greenberg, Martin S

2013-07-01

Accurate diagnosis of chronic pain disorders of the mouth, jaws, and face is frequently complex. It is common for patients with chronic orofacial pain to consult multiple clinicians and receive ineffective treatment before a correct diagnosis is reached. This problem is a significant public health concern. Clinicians can minimize error by starting the diagnostic procedure with a careful, accurate history and thorough head and neck examination followed by a thoughtfully constructed differential diagnosis. The possibility that the patient has symptoms of a life-threatening underlying disease rather than a more common dental, sinus, or temporomandibular disorder must always be considered. Published by Elsevier Inc.

Clinical approach to Parkinson's disease: features, diagnosis, and principles of management.

PubMed

Massano, João; Bhatia, Kailash P

2012-06-01

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.

Clinical pitfalls in the diagnosis of ataque de nervios: a case study.

PubMed

Lizardi, Dana; Oquendo, Maria A; Graver, Ruth

2009-09-01

Ataque de nervios (attack of nerves) is an idiom of distress generally thought of in relation to Caribbean Hispanics. The following case study discusses the presentation of ataque de nervios in a Colombian female. This case study provides insight into a different presentation of ataque de nervios in a new population that clinicians should be aware of in order to ensure accurate diagnosis. Ataque de nervios is a distinct syndrome that does not fully correspond with any single DSM-IV diagnosis. However, there is overlap between symptoms in this condition and those in conventional clinical diagnoses. Common problems in deriving an accurate differential diagnosis are discussed. Implications for treatment are also reviewed, with an emphasis on a comprehensive approach to treatment that supports the client's norms and values.

Older Adult Experience of Online Diagnosis: Results From a Scenario-Based Think-Aloud Protocol

PubMed Central

2014-01-01

Background Searching for online information to interpret symptoms is an increasingly prevalent activity among patients, even among older adults. As older adults typically have complex health care needs, their risk of misinterpreting symptoms via online self-diagnosis may be greater. However, limited research has been conducted with older adults in the areas of symptom interpretation and human-computer interaction. Objective The intent of the study was to describe the processes that a sample of older adults may use to diagnose symptoms online as well as the processes that predict accurate diagnosis. Methods We conducted a series of “think-aloud” protocols with 79 adults aged 50 years or older. Participants received one of two vignettes that depicted symptoms of illness. Participants talked out loud about their thoughts and actions while attempting to diagnose the symptoms with and without the help of common Internet tools (Google and WebMD’s Symptom Checker). Think-aloud content was categorized using an adapted Q-sort and general inductive approach. We then compared the think-aloud content of participants who were accurate in their diagnosis with those who were not. Results Nineteen descriptive codes were identified from the think-aloud content. The codes touched upon Web navigation, attempts to organize and evaluate online health information, and strategies to diagnose symptoms. Participants most frequently relied on a strategy where they reviewed and then rejected the online diagnoses if they contained additional symptoms than those that were depicted in the vignette. Finally, participants who were inaccurate in their diagnosis reported being confused by the diagnosis task, lacking confidence in their diagnosis, and using their past experiences with illness to guide diagnosis more frequently than those participants who accurately diagnosed the symptoms. Conclusions Older adult participants tended to rely on matching strategies to interpret symptoms, but many still utilized existing medical knowledge and previous illness experiences as a guide for diagnosis. Many participants also had difficulty navigating the Internet tools, which suggests an increased need for navigation aids in Web design. Furthermore, participants who were inaccurate in their diagnosis had more difficulty with the Internet tools and confusion with the task than those who were accurate. Future work in this area may want to utilize additional study design such as eye-tracking to further understand the coordination between Web navigation, online symptom information processing, and diagnostic strategies. PMID:24434479

Chest X-Ray

MedlinePlus Videos and Cool Tools

... accurate diagnosis far outweighs any risk. For more information about chest x-rays, visit Radiology Info dot ... Inc. (RSNA). To help ensure current and accurate information, we do not permit copying but encourage linking ...

An evidence-based approach to assessing surgical versus clinical diagnosis of symptomatic endometriosis.

PubMed

Taylor, Hugh S; Adamson, G David; Diamond, Michael P; Goldstein, Steven R; Horne, Andrew W; Missmer, Stacey A; Snabes, Michael C; Surrey, Eric; Taylor, Robert N

2018-05-05

Challenges intrinsic to the accurate diagnosis of endometriosis contribute to an extended delay between the onset of symptoms and clinical confirmation. Intraoperative visualization, preferably with histologic verification, is considered by many professional organizations to be the gold standard by which endometriosis is diagnosed. Clinical diagnosis of symptomatic endometriosis via patient history, physical examination, and noninvasive tests, though more easily executed, is generally viewed as less accurate than surgical diagnosis. Technological advances and increased understanding of the pathophysiology of endometriosis warrant continuing reevaluation of the standard method for diagnosing symptomatic disease. A review of the published literature was therefore performed with the goal of comparing the accuracy of clinical diagnostic measures with that of surgical diagnosis. The current body of evidence suggests that clinical diagnosis of symptomatic endometriosis is more reliable than previously recognized and that surgical diagnosis has limitations that could be underappreciated. Regardless of the methodology used, women with suspected symptomatic endometriosis would be well served by a diagnostic paradigm that is reliable, conveys minimal risk of under- or over-diagnosis, lessens the time from symptom development to diagnosis, and guides the appropriate use of medical and surgical management strategies. © 2018 The Authors. International Journal of Gynecology & Obstetrics published by John Wiley & Sons Ltd on behalf of International Federation of Gynecology and Obstetrics.

Unsupervised Learning —A Novel Clustering Method for Rolling Bearing Faults Identification

NASA Astrophysics Data System (ADS)

Kai, Li; Bo, Luo; Tao, Ma; Xuefeng, Yang; Guangming, Wang

2017-12-01

To promptly process the massive fault data and automatically provide accurate diagnosis results, numerous studies have been conducted on intelligent fault diagnosis of rolling bearing. Among these studies, such as artificial neural networks, support vector machines, decision trees and other supervised learning methods are used commonly. These methods can detect the failure of rolling bearing effectively, but to achieve better detection results, it often requires a lot of training samples. Based on above, a novel clustering method is proposed in this paper. This novel method is able to find the correct number of clusters automatically the effectiveness of the proposed method is validated using datasets from rolling element bearings. The diagnosis results show that the proposed method can accurately detect the fault types of small samples. Meanwhile, the diagnosis results are also relative high accuracy even for massive samples.

Magnetic nanoparticle-based cancer nanodiagnostics

NASA Astrophysics Data System (ADS)

Zubair, Yousaf Muhammad; Yu, Jing; Hou, Yang-Long; Gao, Song

2013-05-01

Diagnosis facilitates the discovery of an impending disease. A complete and accurate treatment of cancer depends heavily on its early medical diagnosis. Cancer, one of the most fatal diseases world-wide, consistently affects a larger number of patients each year. Magnetism, a physical property arising from the motion of electrical charges, which causes attraction and repulsion between objects and does not involve radiation, has been under intense investigation for several years. Magnetic materials show great promise in the application of image contrast enhancement to accurately image and diagnose cancer. Chelating gadolinium (Gd III) and magnetic nanoparticles (MNPs) have the prospect to pave the way for diagnosis, operative management, and adjuvant therapy of different kinds of cancers. The potential of MNP-based magnetic resonance (MR) contrast agents (CAs) now makes it possible to image portions of a tumor in parts of the body that would be unclear with the conventional magnetic resonance imaging (MRI). Multiple functionalities like variety of targeting ligands and image contrast enhancement have recently been added to the MNPs. Keeping aside the additional complexities in synthetic steps, costs, more convoluted behavior, and effects in-vivo, multifunctional MNPs still face great regulatory hurdles before clinical availability for cancer patients. The trade-off between additional functionality and complexity is a subject of ongoing debate. The recent progress regarding the types, design, synthesis, morphology, characterization, modification, and the in-vivo and in-vitro uses of different MRI contrast agents, including MNPs, to diagnose cancer will be the focus of this review. As our knowledge of MNPs' characteristics and applications expands, their role in the future management of cancer patients will become very important. Current hurdles are also discussed, along with future prospects of MNPs as the savior of cancer victims.

Abdominal surgery in neonatal foals.

PubMed

Bryant, James E; Gaughan, Earl M

2005-08-01

Abdominal surgery in foals under 30 days old has become more common with improved neonatal care. Early recognition of a foal at risk and better nursing care have increased the survival rates of foals that require neonatal care. The success of improved neonatal care also has increased the need for accurate diagnosis and treatment of gastrointestinal, umbilical, and bladder disorders in these foals. This chapter focuses on the early and accurate diagnosis of specific disorders that require abdominal exploratory surgery and the specific treatment considerations and prognosis for these disorders.

A translatable predictor of human radiation exposure.

PubMed

Lucas, Joseph; Dressman, Holly K; Suchindran, Sunil; Nakamura, Mai; Chao, Nelson J; Himburg, Heather; Minor, Kerry; Phillips, Gary; Ross, Joel; Abedi, Majid; Terbrueggen, Robert; Chute, John P

2014-01-01

Terrorism using radiological dirty bombs or improvised nuclear devices is recognized as a major threat to both public health and national security. In the event of a radiological or nuclear disaster, rapid and accurate biodosimetry of thousands of potentially affected individuals will be essential for effective medical management to occur. Currently, health care providers lack an accurate, high-throughput biodosimetric assay which is suitable for the triage of large numbers of radiation injury victims. Here, we describe the development of a biodosimetric assay based on the analysis of irradiated mice, ex vivo-irradiated human peripheral blood (PB) and humans treated with total body irradiation (TBI). Interestingly, a gene expression profile developed via analysis of murine PB radiation response alone was inaccurate in predicting human radiation injury. In contrast, generation of a gene expression profile which incorporated data from ex vivo irradiated human PB and human TBI patients yielded an 18-gene radiation classifier which was highly accurate at predicting human radiation status and discriminating medically relevant radiation dose levels in human samples. Although the patient population was relatively small, the accuracy of this classifier in discriminating radiation dose levels in human TBI patients was not substantially confounded by gender, diagnosis or prior exposure to chemotherapy. We have further incorporated genes from this human radiation signature into a rapid and high-throughput chemical ligation-dependent probe amplification assay (CLPA) which was able to discriminate radiation dose levels in a pilot study of ex vivo irradiated human blood and samples from human TBI patients. Our results illustrate the potential for translation of a human genetic signature for the diagnosis of human radiation exposure and suggest the basis for further testing of CLPA as a candidate biodosimetric assay.

Cost-effectiveness of coronary CT angiography in patients with chest pain: Comparison with myocardial single photon emission tomography.

PubMed

Lee, Seung-Pyo; Jang, Eun Jin; Kim, Yong-Jin; Cha, Myung-Jin; Park, Sun-Young; Song, Hyun Jin; Choi, Ji Eun; Shim, Jung-Im; Ahn, Jeonghoon; Lee, Hyun Joo

2015-01-01

Coronary CT angiography (CCTA) has been proven accurate and is incorporated in clinical recommendations for coronary artery disease (CAD) diagnosis workup, but cost-effectiveness data, especially in comparison to other methods such as myocardial single photon emission CT (SPECT) are insufficient. To compare the cost-effectiveness of CCTA and myocardial SPECT in a real-world setting. We performed a retrospective cohort study on consecutive patients with suspected CAD and a pretest probability between 10% and 90%. Test accuracy was compared by correcting referral bias to coronary angiography depending on noninvasive test results based on the Bayes' theorem and also by incorporating 1-year follow-up results. Cost-effectiveness was analyzed using test accuracy and quality-adjusted life year (QALY). The model using diagnostic accuracy used the number of patients accurately diagnosed among 1000 persons as the effect and contained only expenses for diagnostic testing as the cost. In the model using QALY, a decision tree was developed, and the time horizon was 1 year. CCTA was performed in 635 patients and SPECT in 997 patients. An accurate diagnosis per 1000 patients was achieved in 725 patients by CCTA vs 661 patients by SPECT. In the model using diagnostic accuracy, CCTA was more effective and less expensive than SPECT ($725.38 for CCTA vs $661.46 for SPECT). In the model using QALY, CCTA was generally more effective in terms of life quality (0.00221 QALY) and cost ($513) than SPECT. However, cost utility varied among subgroups, with SPECT outperforming CCTA in patients with a pretest probability of 30% to 60% (0.01890 QALY; $113). These results suggest that CCTA may be more cost-effective than myocardial SPECT. Copyright © 2015 Society of Cardiovascular Computed Tomography. Published by Elsevier Inc. All rights reserved.

Incorporation of Mobile Application (App) Measures Into the Diagnosis of Smartphone Addiction.

PubMed

Lin, Yu-Hsuan; Lin, Po-Hsien; Chiang, Chih-Lin; Lee, Yang-Han; Yang, Cheryl C H; Kuo, Terry B J; Lin, Sheng-Hsuan

2017-07-01

Global smartphone expansion has brought about unprecedented addictive behaviors. The current diagnosis of smartphone addiction is based solely on information from clinical interview. This study aimed to incorporate application (app)-recorded data into psychiatric criteria for the diagnosis of smartphone addiction and to examine the predictive ability of the app-recorded data for the diagnosis of smartphone addiction. Smartphone use data of 79 college students were recorded by a newly developed app for 1 month between December 1, 2013, and May 31, 2014. For each participant, psychiatrists made a diagnosis for smartphone addiction based on 2 approaches: (1) only diagnostic interview (standard diagnosis) and (2) both diagnostic interview and app-recorded data (app-incorporated diagnosis). The app-incorporated diagnosis was further used to build app-incorporated diagnostic criteria. In addition, the app-recorded data were pooled as a score to predict smartphone addiction diagnosis. When app-incorporated diagnosis was used as a gold standard for 12 candidate criteria, 7 criteria showed significant accuracy (area under receiver operating characteristic curve [AUC] > 0.7) and were constructed as app-incorporated diagnostic criteria, which demonstrated remarkable accuracy (92.4%) for app-incorporated diagnosis. In addition, both frequency and duration of daily smartphone use significantly predicted app-incorporated diagnosis (AUC = 0.70 for frequency; AUC = 0.72 for duration). The combination of duration, frequency, and frequency trend for 1 month can accurately predict smartphone addiction diagnosis (AUC = 0.79 for app-incorporated diagnosis; AUC = 0.71 for standard diagnosis). The app-incorporated diagnosis, combining both psychiatric interview and app-recorded data, demonstrated substantial accuracy for smartphone addiction diagnosis. In addition, the app-recorded data performed as an accurate screening tool for app-incorporated diagnosis. © Copyright 2017 Physicians Postgraduate Press, Inc.

Potomac horse fever.

PubMed

Palmer, J E

1993-08-01

E. risticii, the cause of classic Potomac horse fever, is now known to produce two disease syndromes: EEC and EEA. The pathogen appears to commonly infect horses based on seroepidemiologic studies; however, the method of transmission remains unknown. The most common clinical disease is EEC, commonly called Potomac horse fever, which presents a wide spectrum of clinical signs. Diagnosis is currently dependent on serology, which frequently does not lead to a definitive diagnosis and at best results in a retrospective diagnosis. A new diagnostic approach, polymerase chain reaction, may offer a rapid and accurate diagnostic test but is yet to be proven. Antimicrobials found to be highly effective in treating EEC include intravenous oxytetracycline and the oral combination of erythromycin and rifampin. Without an understanding of the mode of transmission, prevention of EEC will remain impossible. Although two commercial bacterins are available, vaccination does not result in complete protection. EEA is a recently recognized clinical syndrome caused by E. risticii. After recovery from EEC, pregnant mares may abort. Based on histologic examination, the aborted fetus appears to be a victim of an ehrlichial colitis as well as placentitis. The effect of antimicrobials and vaccination on the occurrence of EEA has yet to be investigated.

Multiple sclerosis - etiology and diagnostic potential.

PubMed

Kamińska, Joanna; Koper, Olga M; Piechal, Kinga; Kemona, Halina

2017-06-30

Multiple sclerosis (MS) is a chronic inflammatory and demyelinating disease of autoimmune originate. The main agents responsible for the MS development include exogenous, environmental, and genetic factors. MS is characterized by multifocal and temporally scattered central nervous system (CNS) damage which lead to the axonal damage. Among clinical courses of MS it can be distinguish relapsing-remitting multiple sclerosis (RRMS), secondary progressive multiple sclerosis (SPSM), primary progressive multiple sclerosis (PPMS), and progressive-relapsing multiple sclerosis (RPMS). Depending on the severity of signs and symptoms MS can be described as benign MS or malignant MS. MS diagnosis is based on McDonald's diagnostic criteria, which link clinical manifestation with characteristic lesions demonstrated by magnetic resonance imaging (MRI), cerebrospinal fluid (CSF) analysis, and visual evoked potentials. Among CSF laboratory tests used to the MS diagnosis are applied: Tibbling & Link IgG index, reinbegrams, and CSF isoelectrofocusing for oligoclonal bands detection. It should be emphasized, that despite huge progress regarding MS as well as the availability of different diagnostics methods this disease is still a diagnostic challenge. It may result from fact that MS has diverse clinical course and there is a lack of single test, which would be of appropriate diagnostic sensitivity and specificity for quick and accurate diagnosis.

Assessment and Differential Diagnosis of Comorbid Conditions in Adolescents and Adults with Autism Spectrum Disorders

ERIC Educational Resources Information Center

Trammell, Beth; Wilczynski, Susan M.; Dale, Brittany; Mcintosh, David E.

2013-01-01

Successful treatment of individuals with autism spectrum disorders (ASD) is entirely contingent on an accurate diagnosis. Although many resources exist to help the clinician with differential diagnosis of children, particularly in early childhood, the resources available for evaluating adolescents and adults is far less prevalent. Clinicians often…

Molecular diagnosis of α-thalassemia in a multiethnic population.

PubMed

Gilad, Oded; Shemer, Orna Steinberg; Dgany, Orly; Krasnov, Tanya; Nevo, Michal; Noy-Lotan, Sharon; Rabinowicz, Ron; Amitai, Nofar; Ben-Dor, Shifra; Yaniv, Isaac; Yacobovich, Joanne; Tamary, Hannah

2017-06-01

α-Thalassemia, one of the most common genetic diseases, is caused by deletions or point mutations affecting one to four α-globin genes. Molecular diagnosis is important to prevent the most severe forms of the disease. However, the diagnosis of α-thalassemia is complex due to a high variability of the genetic defects involved, with over 250 described mutations. We summarize herein the findings of genetic analyses of DNA samples referred to our laboratory for the molecular diagnosis of α-thalassemia, along with a detailed clinical description. We utilized a diagnostic algorithm including Gap-PCR, to detect known deletions, followed by sequencing of the α-globin gene, to identify known and novel point mutations, and multiplex ligation-dependent probe amplification (MLPA) for the diagnosis of rare or novel deletions. α-Thalassemia was diagnosed in 662 of 975 samples referred to our laboratory. Most commonly found were deletions (75.3%, including two novel deletions previously described by us); point mutations comprised 25.4% of the cases, including five novel mutations. Our population included mostly Jews (of Ashkenazi and Sephardic origin) and Muslim Arabs, who presented with a higher rate of point mutations and hemoglobin H disease. Overall, we detected 53 different genotype combinations causing a spectrum of clinical phenotypes, from asymptomatic to severe anemia. Our work constitutes the largest group of patients with α-thalassemia originating in the Mediterranean whose clinical characteristics and molecular basis have been determined. We suggest a diagnostic algorithm that leads to an accurate molecular diagnosis in multiethnic populations. © 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Machine learning approaches for integrating clinical and imaging features in late-life depression classification and response prediction.

PubMed

Patel, Meenal J; Andreescu, Carmen; Price, Julie C; Edelman, Kathryn L; Reynolds, Charles F; Aizenstein, Howard J

2015-10-01

Currently, depression diagnosis relies primarily on behavioral symptoms and signs, and treatment is guided by trial and error instead of evaluating associated underlying brain characteristics. Unlike past studies, we attempted to estimate accurate prediction models for late-life depression diagnosis and treatment response using multiple machine learning methods with inputs of multi-modal imaging and non-imaging whole brain and network-based features. Late-life depression patients (medicated post-recruitment) (n = 33) and older non-depressed individuals (n = 35) were recruited. Their demographics and cognitive ability scores were recorded, and brain characteristics were acquired using multi-modal magnetic resonance imaging pretreatment. Linear and nonlinear learning methods were tested for estimating accurate prediction models. A learning method called alternating decision trees estimated the most accurate prediction models for late-life depression diagnosis (87.27% accuracy) and treatment response (89.47% accuracy). The diagnosis model included measures of age, Mini-mental state examination score, and structural imaging (e.g. whole brain atrophy and global white mater hyperintensity burden). The treatment response model included measures of structural and functional connectivity. Combinations of multi-modal imaging and/or non-imaging measures may help better predict late-life depression diagnosis and treatment response. As a preliminary observation, we speculate that the results may also suggest that different underlying brain characteristics defined by multi-modal imaging measures-rather than region-based differences-are associated with depression versus depression recovery because to our knowledge this is the first depression study to accurately predict both using the same approach. These findings may help better understand late-life depression and identify preliminary steps toward personalized late-life depression treatment. Copyright © 2015 John Wiley & Sons, Ltd.

Dedifferentiated Liposarcoma in the Spermatic Cord Finally Diagnosed at 7th Resection of Recurrence: A Case Report and Bibliographic Consideration.

PubMed

Morozumi, Kento; Kawasaki, Yoshihide; Kaiho, Yasuhiro; Kawamorita, Naoki; Fujishima, Fumiyoshi; Watanabe, Mika; Arai, Yoichi

2017-01-01

Liposarcoma in the spermatic cord is infrequent, and accurate diagnosis of histopathological subtype is often difficult in spite of the importance of differential diagnosis for adequate treatment. A 54-year-old man underwent left-sided high orchiectomy with inguinal lymphadenectomy for a spermatic cord tumor in July 2006. The initial histopathological report diagnosed leiomyosarcoma in the spermatic cord. He then underwent surgeries for repeated recurrences a further 6 times between July 2008 and May 2014. Pathological finding at the 7th resection of the recurrent tumor was osteosarcoma, which was uncommon in the spermatic cord. With a thorough overview of all specimens, the histopathological diagnosis was finally confirmed as dedifferentiated liposarcoma because of a biphasic pattern in the specimen of high orchiectomy at the first resection. A biphasic pattern represents high-grade sarcoma like osteosarcoma and well-differentiated liposarcoma, and is characteristic of dedifferentiated liposarcoma. Although the dedifferentiated type is one of poor prognosis, the diagnosing of liposarcoma histopathologically was found to be difficult throughout this case. In this report we discuss the accurate histopathological diagnosis of liposarcoma in the spermatic cord in order to prevent repeated recurrences based on a review of the literature, as well as the difficulty in recognizing dedifferentiated liposarcoma macroscopically and morphologically. Our experience suggests that, after much difficulty, accurate histopathological diagnosis of liposarcoma in the spermatic cord is still clinically challenging.

Fusion of 4D echocardiography and cine cardiac magnetic resonance volumes using a salient spatio-temporal analysis

NASA Astrophysics Data System (ADS)

Atehortúa, Angélica; Garreau, Mireille; Romero, Eduardo

2017-11-01

An accurate left (LV) and right ventricular (RV) function quantification is important to support evaluation, diagnosis and prognosis of cardiac pathologies such as the cardiomyopathies. Currently, diagnosis by ultrasound is the most cost-effective examination. However, this modality is highly noisy and operator dependent, hence prone to errors. Therefore, fusion with other cardiac modalities may provide complementary information and improve the analysis of the specific pathologies like cardiomyopathies. This paper proposes an automatic registration between two complementary modalities, 4D echocardiography and Magnetic resonance images, by mapping both modalities to a common space of salience where an optimal registration between them is estimated. The obtained matrix transformation is then applied to the MRI volume which is superimposed to the 4D echocardiography. Manually selected marks in both modalities are used to evaluate the precision of the superimposition. Preliminary results, in three evaluation cases, show the distance between these marked points and the estimated with the transformation is about 2 mm.

Nodular regenerative hyperplasia: Evolving concepts on underdiagnosed cause of portal hypertension

PubMed Central

Hartleb, Marek; Gutkowski, Krzysztof; Milkiewicz, Piotr

2011-01-01

Nodular regenerative hyperplasia (NRH) is a rare liver condition characterized by a widespread benign transformation of the hepatic parenchyma into small regenerative nodules. NRH may lead to the development of non-cirrhotic portal hypertension. There are no published systematic population studies on NRH and our current knowledge is limited to case reports and case series. NRH may develop via autoimmune, hematological, infectious, neoplastic, or drug-related causes. The disease is usually asymptomatic, slowly or non-progressive unless complications of portal hypertension develop. Accurate diagnosis is made by histopathology, which demonstrates diffuse micronodular transformation without fibrous septa. Lack of perinuclear collagen tissue distinguishes NRH from typical regenerative nodules in the cirrhotic liver. While the initial treatment is to address the underlying disease, ultimately the therapy is directed to the management of portal hypertension. The prognosis of NRH depends on both the severity of the underlying illness and the prevention of secondary complications of portal hypertension. In this review we detail the epidemiology, pathogenesis, diagnosis, management, and prognosis of NRH. PMID:21472097

Deep Learning and Insomnia: Assisting Clinicians With Their Diagnosis.

PubMed

Shahin, Mostafa; Ahmed, Beena; Hamida, Sana Tmar-Ben; Mulaffer, Fathima Lamana; Glos, Martin; Penzel, Thomas

2017-11-01

Effective sleep analysis is hampered by the lack of automated tools catering to disordered sleep patterns and cumbersome monitoring hardware. In this paper, we apply deep learning on a set of 57 EEG features extracted from a maximum of two EEG channels to accurately differentiate between patients with insomnia or controls with no sleep complaints. We investigated two different approaches to achieve this. The first approach used EEG data from the whole sleep recording irrespective of the sleep stage (stage-independent classification), while the second used only EEG data from insomnia-impacted specific sleep stages (stage-dependent classification). We trained and tested our system using both healthy and disordered sleep collected from 41 controls and 42 primary insomnia patients. When compared with manual assessments, an NREM + REM based classifier had an overall discrimination accuracy of 92% and 86% between two groups using both two and one EEG channels, respectively. These results demonstrate that deep learning can be used to assist in the diagnosis of sleep disorders such as insomnia.

Factoring quality laboratory diagnosis into the malaria control agenda for sub-Saharan Africa.

PubMed

Aidoo, Michael

2013-09-01

Recent progress in malaria control in sub-Saharan Africa has been achieved primarily through provision of insecticide-treated nets, indoor residual spraying, and antimalarial drugs. Although these interventions are important, proper case identification and accurate measurement of their impact depend on quality diagnostic testing. Current availability of diagnostic testing for malaria in sub-Saharan Africa is inadequate to support disease management, prevention programs, and surveillance needs. Challenges faced include a dearth of skilled workforce, inadequate health systems infrastructure, and lack of political will. A coordinated approach to providing pre-service clinical and laboratory training together with systems that support a scale-up of laboratory services could provide means not only for effective malaria case management but also, management of non-malaria febrile illnesses, disease surveillance, and accurate control program evaluation. A synthesis of the challenges faced in ensuring quality malaria testing and how to include this information in the malaria control and elimination agenda are presented.

IDLN-MSP: Idiolocal normalization of real-time methylation-specific PCR for genetic imbalanced DNA specimens.

PubMed

Santourlidis, Simeon; Ghanjati, Foued; Beermann, Agnes; Hermanns, Thomas; Poyet, Cédric

2016-02-01

Sensitive, accurate, and reliable measurements of tumor cell-specific DNA methylation changes are of fundamental importance in cancer diagnosis, prognosis, and monitoring. Real-time methylation-specific PCR (MSP) using intercalating dyes is an established method of choice for this purpose. Here we present a simple but crucial adaptation of this widely applied method that overcomes a major obstacle: genetic abnormalities in the DNA samples, such as aneuploidy or copy number variations, that could result in inaccurate results due to improper normalization if the copy numbers of the target and reference sequences are not the same. In our idiolocal normalization (IDLN) method, the locus for the normalizing, methylation-independent reference amplification is chosen close to the locus of the methylation-dependent target amplification. This ensures that the copy numbers of both the target and reference sequences will be identical in most cases if they are close enough to each other, resulting in accurate normalization and reliable comparative measurements of DNA methylation in clinical samples when using real-time MSP.

Fusion of spatial gray level dependency and fractal texture features for the characterization of thyroid lesions.

PubMed

Raghavendra, U; Rajendra Acharya, U; Gudigar, Anjan; Hong Tan, Jen; Fujita, Hamido; Hagiwara, Yuki; Molinari, Filippo; Kongmebhol, Pailin; Hoong Ng, Kwan

2017-05-01

Thyroid is a small gland situated at the anterior side of the neck and one of the largest glands of the endocrine system. The abrupt cell growth or malignancy in the thyroid gland may cause thyroid cancer. Ultrasound images distinctly represent benign and malignant lesions, but accuracy may be poor due to subjective interpretation. Computer Aided Diagnosis (CAD) can minimize the errors created due to subjective interpretation and assists to make fast accurate diagnosis. In this work, fusion of Spatial Gray Level Dependence Features (SGLDF) and fractal textures are used to decipher the intrinsic structure of benign and malignant thyroid lesions. These features are subjected to graph based Marginal Fisher Analysis (MFA) to reduce the number of features. The reduced features are subjected to various ranking methods and classifiers. We have achieved an average accuracy, sensitivity and specificity of 97.52%, 90.32% and 98.57% respectively using Support Vector Machine (SVM) classifier. The achieved maximum Area Under Curve (AUC) is 0.9445. Finally, Thyroid Clinical Risk Index (TCRI) a single number is developed using two MFA features to discriminate the two classes. This prototype system is ready to be tested with huge diverse database. Copyright © 2017 Elsevier B.V. All rights reserved.

Dependence of optic disc parameters on disc area according to Heidelberg Retina Tomograph: Part II.

NASA Astrophysics Data System (ADS)

Machekhin, V.; Manaenkova, G.; Bondarenko, O.

2007-05-01

With the help of Heidelberg Retina Tomograph (HRT-II) optic disc parameters in 211 eyes of 115 healthy patients with refraction Em +/- 3,0 D and 96 eyes of 72 patients with myopia 3,5-14,0 D without any signs of glaucoma were studied. Analysis of optic disc parameters were carried out in 5 groups of patients according to disc area: less than 1,5 mm2, 1,5- 2,5 mm2, 2,5-3,0 mm2, 3,0-3,5 mm2 and more than 3,5 mm2. An accurate depending on disc area was revealed for all optic disc parameters in all sectors, which was manifested by increasing cup disc and rim disc (area and volume) and other parameters. We consider it is necessary to use the proper tables for right interpretation of received data for early diagnosis of glaucoma.

Celiac Disease Diagnosis: Endoscopic Biopsy

MedlinePlus

... tissue samples are also vital to an accurate diagnosis—celiac disease can cause patchy lesions in the duodenum which ... to perform an intestinal biopsy to establish the diagnosis of celiac disease in a patient with DH; the skin biopsy ...

Necrotizing fasciitis and its mimics: what radiologists need to know.

PubMed

Chaudhry, Ammar A; Baker, Kevin S; Gould, Elaine S; Gupta, Rajarsi

2015-01-01

The purpose of this article is to review the imaging features of necrotizing fasciitis and its potential mimics. Key imaging features are emphasized to enable accurate and efficient interpretation of variables that are essential in appropriate management. Necrotizing fasciitis is a medical emergency with potential lethal outcome. Dissecting gas along fascial planes in the absence of penetrating trauma (including iatrogenic) is essentially pathognomonic. However, the lack of soft-tissue emphysema does not exclude the diagnosis. Mimics of necrotizing fasciitis include nonnecrotizing fasciitis (eosinophilic, paraneoplastic, inflammatory (lupus myofasciitis, Churg-Strauss, nodular, or proliferative), myositis, neoplasm, myonecrosis, inflammatory myopathy, and compartment syndrome. Necrotizing fasciitis is a clinical diagnosis, and imaging can reveal nonspecific or negative findings (particularly during the early course of disease). One should be familiar with salient clinical and imaging findings of necrotizing fasciitis to facilitate a more rapid and accurate diagnosis and be aware that its diagnosis necessitates immediate discussion with the referring physician.

Role of cardiac MRI in nonischemic cardiomyopathies.

PubMed

Anand, Senthil; Janardhanan, Rajesh

2016-01-01

Cardiac magnetic resonance (CMR) with its higher spatial resolution is considered the gold standard for evaluating ventricular mass, volumes, and ejection fraction. CMR can be used for accurate diagnosis of several conditions, especially cardiomyopathies. The purpose of this article is to review the utility of CMR in the diagnosis and management of nonischemic cardiomyopathies. We have reviewed both common and rare types of nonischemic cardiomyopathies in detail and elaborated on the specific CMR findings in each. We believe that CMR is an invaluable tool, not only in differentiating nonischemic from ischemic cardiomyopathy, but also in aiding the accurate diagnosis and management of the subtype of nonischemic cardiomyopathy. CMR should routinely be integrated in the diagnostic workup of various cardiomyopathies. Published by Elsevier B.V.

Clinical application of antenatal genetic diagnosis of osteogenesis imperfecta type IV.

PubMed

Yuan, Jing; Li, Song; Xu, YeYe; Cong, Lin

2015-04-02

Clinical analysis and genetic testing of a family with osteogenesis imperfecta type IV were conducted, aiming to discuss antenatal genetic diagnosis of osteogenesis imperfecta type IV. Preliminary genotyping was performed based on clinical characteristics of the family members and then high-throughput sequencing was applied to rapidly and accurately detect the changes in candidate genes. Genetic testing of the III5 fetus and other family members revealed missense mutation in c.2746G>A, pGly916Arg in COL1A2 gene coding region and missense and synonymous mutation in COL1A1 gene coding region. Application of antenatal genetic diagnosis provides fast and accurate genetic counseling and eugenics suggestions for patients with osteogenesis imperfecta type IV and their families.

Ultrasound evaluation of foot deformities in infants.

PubMed

Miron, Marie-Claude; Grimard, Guy

2016-02-01

Foot deformity in infants is the most common congenital musculoskeletal condition. A precise diagnosis can sometimes be impossible to establish clinically. Radiologic imaging plays a major role in the evaluation of musculoskeletal abnormalities. However conventional imaging techniques, such as plain radiographs of the foot, are of very little help in this age group because of the lack of ossification of the tarsal bones. US presents a significant advantage because it permits the visualization of cartilaginous structures. This leads to the detailed assessment of foot deformities in infants. Furthermore, US can also be used as a dynamic imaging modality. Different scanning views are beneficial to evaluate the complete anatomy of the foot; depending on the suspected clinical diagnosis, some planes are more informative to display the pathological features of a specific deformity. We describe the US findings of five of the most common foot deformities referred to our pediatric orthopedic clinic (clubfoot, simple metatarsus adductus, skewfoot, and oblique and vertical talus). For each deformity we propose a specific imaging protocol based on US to provide an accurate diagnosis. US is a complementary tool to the clinical examination for determining the diagnosis and the severity of the deformity and also for monitoring the efficacy of treatment. Radiologists investigating foot deformities in infants should consider using US for the detailed assessment of the foot in this age group.

Genetic analysis of PAX3 for diagnosis of Waardenburg syndrome type I.

PubMed

Matsunaga, Tatsuo; Mutai, Hideki; Namba, Kazunori; Morita, Noriko; Masuda, Sawako

2013-04-01

PAX3 genetic analysis increased the diagnostic accuracy for Waardenburg syndrome type I (WS1). Analysis of the three-dimensional (3D) structure of PAX3 helped verify the pathogenicity of a missense mutation, and multiple ligation-dependent probe amplification (MLPA) analysis of PAX3 increased the sensitivity of genetic diagnosis in patients with WS1. Clinical diagnosis of WS1 is often difficult in individual patients with isolated, mild, or non-specific symptoms. The objective of the present study was to facilitate the accurate diagnosis of WS1 through genetic analysis of PAX3 and to expand the spectrum of known PAX3 mutations. In two Japanese families with WS1, we conducted a clinical evaluation of symptoms and genetic analysis, which involved direct sequencing, MLPA analysis, quantitative PCR of PAX3, and analysis of the predicted 3D structure of PAX3. The normal-hearing control group comprised 92 subjects who had normal hearing according to pure tone audiometry. In one family, direct sequencing of PAX3 identified a heterozygous mutation, p.I59F. Analysis of PAX3 3D structures indicated that this mutation distorted the DNA-binding site of PAX3. In the other family, MLPA analysis and subsequent quantitative PCR detected a large, heterozygous deletion spanning 1759-2554 kb that eliminated 12-18 genes including a whole PAX3 gene.

Laparoscopic appendectomy

NASA Astrophysics Data System (ADS)

Richards, Kent F.; Christensen, Brent J.

1991-07-01

The accurate and timely diagnosis of acute appendicitis remains a difficult clinical dilemma. Misdiagnosis rates of up to 40% are not unusual. Laparoscopic appendectomy provides a definitive diagnosis and an excellent method for routine removal of the appendix with very low morbidity and patient discomfort.

Detection of blur artifacts in histopathological whole-slide images of endomyocardial biopsies.

PubMed

Hang Wu; Phan, John H; Bhatia, Ajay K; Cundiff, Caitlin A; Shehata, Bahig M; Wang, May D

2015-01-01

Histopathological whole-slide images (WSIs) have emerged as an objective and quantitative means for image-based disease diagnosis. However, WSIs may contain acquisition artifacts that affect downstream image feature extraction and quantitative disease diagnosis. We develop a method for detecting blur artifacts in WSIs using distributions of local blur metrics. As features, these distributions enable accurate classification of WSI regions as sharp or blurry. We evaluate our method using over 1000 portions of an endomyocardial biopsy (EMB) WSI. Results indicate that local blur metrics accurately detect blurry image regions.

CT evaluation of thoracic infections after major trauma

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

Mirvis, S.E.; Rodriguez, A.; Whitley, N.O.

1985-06-01

Thirty-seven septic patients with major multisystem trauma were evaluated by computed tomography (CT) to identify possible thoracic sources of infection. CT was 72% accurate in the diagnosis of empyema and 95% accurate in the diagnosis of lung abscess. While CT proved useful in demonstrating these sites of thoracic infections in septic trauma victims, the presence of concurrent thoracic pathology, particularly loculated hemothorax or hemopneumothorax and traumatic lung cysts with hemorrhage or surrounding parenchymal consolidation, introduced sources of diagnostic error. CT also proved helpful in guiding appropriate revisions of malpositioned and occluded thoracostomy tubes.

Statistical analysis for understanding and predicting battery degradations in real-life electric vehicle use

NASA Astrophysics Data System (ADS)

Barré, Anthony; Suard, Frédéric; Gérard, Mathias; Montaru, Maxime; Riu, Delphine

2014-01-01

This paper describes the statistical analysis of recorded data parameters of electrical battery ageing during electric vehicle use. These data permit traditional battery ageing investigation based on the evolution of the capacity fade and resistance raise. The measured variables are examined in order to explain the correlation between battery ageing and operating conditions during experiments. Such study enables us to identify the main ageing factors. Then, detailed statistical dependency explorations present the responsible factors on battery ageing phenomena. Predictive battery ageing models are built from this approach. Thereby results demonstrate and quantify a relationship between variables and battery ageing global observations, and also allow accurate battery ageing diagnosis through predictive models.

Hear ye? Hear ye! Successful auditory aging.

PubMed Central

Gates, G A; Rees, T S

1997-01-01

Age-related hearing loss (presbycusis) is a multifactorial process that affects nearly all people in their senior years. Most cases are due to a loss of cochlear hair cell function and are well mediated by communication courtesy and modern amplification technology. Severe hearing loss is generally due to cochlear problems or age-related diseases and may require speech reading, assistive listening devices, and cochlear implants, depending on the degree of loss. Presbycusis may seriously impair communication and contribute to isolation, depression, and possibly dementia. Accurate diagnosis and prompt remediation are widely available but are frequently underused. Geriatric health care and well-being is enhanced by the detection and remediation of communication disorders. PMID:9348755

Avian influenza surveillance and diagnosis

USDA-ARS?s Scientific Manuscript database

Rapid detection and accurate identification of low (LPAI) and high pathogenicity avian influenza (HPAI) is critical to controlling infections and disease in poultry. Test selection and algorithms for the detection and diagnosis of avian influenza virus (AIV) in poultry may vary somewhat among differ...

[Diagnostic difficulties in Grave's orbitopathy--case report].

PubMed

Jedrzejowski, Maciej; Grzesiuk, Wiesław; Szwejda, Elzbieta; Bar-Andziak, Ewa

2004-03-01

Graves' orbitopathy is caused by intraorbital inflammatory reaction due to autoimmune thyroid disease. In most cases the diagnosis is based on the coexistence of typical eye signs and hyperthyroidism symptoms. In presented case, the absence of thyroid dysfunction implicated performance of differential diagnosis. Among many available diagnostic tools nuclear magnetic resonance seems to be the most accurate in confirmation of diagnosis of Graves' orbitopathy.

[Desmoplastic fibroma. Differential diagnosis of a periapical lesion from endodontic failure].

PubMed

Zabalegui, B; Gil, J; Zabalegui, I

1989-01-01

Treatment of endodontically involved teeth requires accurate diagnosis of the clinical pulpal condition to determine the primary cause of pathosis. The case presented shows the differential diagnosis between a desmoplastic fibroma and a failure of a misdiagnosed endodontic treatment. The initial direction of treatment should had never been the endodontic therapy but local surgical curettage of the lesion.

Malaria Diagnosis across the International Centers of Excellence for Malaria Research: Platforms, Performance, and Standardization

PubMed Central

Kobayashi, Tamaki; Gamboa, Dionicia; Ndiaye, Daouda; Cui, Liwang; Sutton, Patrick L.; Vinetz, Joseph M.

2015-01-01

Diagnosis is “the act of identifying a disease, illness, or problem by examining someone or something.” When an individual with acute fever presents for clinical attention, accurate diagnosis leading to specific, prompt treatment often saves lives. As applied to malaria, not only individual patient diagnosis is important but also assessing population-level malaria prevalence using appropriate diagnostic methods is essential for public health purposes. Similarly, identifying (diagnosing) fake antimalarial medications prevents the use of counterfeit drugs that can have disastrous effects. Therefore, accurate diagnosis in broad areas related to malaria is fundamental to improving health-care delivery, informing funding agencies of current malaria situations, and aiding in the prioritization of regional and national control efforts. The International Centers of Excellence for Malaria Research (ICEMR), supported by the U.S. National Institute of Allergy and Infectious Diseases, has collaborated on global efforts to improve malaria diagnostics by working to harmonize and systematize procedures across different regions where endemicity and financial resources vary. In this article, the different diagnostic methods used across each ICEMR are reviewed and challenges are discussed. PMID:26259937

Case Report of Myeloid Sarcoma Masquerading as In-Transit Metastasis at a Previous Melanoma Site: Avoiding a Diagnostic Pitfall.

PubMed

Curry, Jonathan L; Tetzlaff, Michael T; Wang, Sa A; Landon, Gene; Alouch, Nail; Patel, Sapna P; Nagarajan, Priyadharsini; Gupta, Shiva; Aung, Phyu P; Devine, Catherine E; Khoury, Joseph D; Loghavi, Sanam; Prieto, Victor G; DiNardo, Courtney D; Gershenwald, Jeffrey E

2018-06-01

Myeloid sarcoma is a rare extramedullary hematologic malignancy. Accurate and timely diagnosis may be challenging because myeloid sarcoma is known to mimic solid tumors, including hepatobiliary, nasopharyngeal, and breast carcinomas. We report a case of myeloid sarcoma that developed in the primary tumor lymphatic drainage field of a previously treated intermediate-thickness cutaneous melanoma, clinically and radiographically mimicking an in-transit metastasis, in a patient with myelodysplastic syndrome. The diagnosis of myeloid sarcoma was achieved after surgical excision of the mass and pathological examination that included extensive immunohistochemical studies. Awareness of such an unusual clinical presentation can help reduce diagnostic delay and ensure that adequate tissue is obtained for pathological examination and ancillary studies that are critical for accurate diagnosis and appropriate patient management.

Panel 7: Otitis Media: Treatment and Complications.

PubMed

Schilder, Anne G M; Marom, Tal; Bhutta, Mahmood F; Casselbrant, Margaretha L; Coates, Harvey; Gisselsson-Solén, Marie; Hall, Amanda J; Marchisio, Paola; Ruohola, Aino; Venekamp, Roderick P; Mandel, Ellen M

2017-04-01

Objective We aimed to summarize key articles published between 2011 and 2015 on the treatment of (recurrent) acute otitis media, otitis media with effusion, tympanostomy tube otorrhea, chronic suppurative otitis media and complications of otitis media, and their implications for clinical practice. Data Sources PubMed, Ovid Medline, the Cochrane Library, and Clinical Evidence (BMJ Publishing). Review Methods All types of articles related to otitis media treatment and complications between June 2011 and March 2015 were identified. A total of 1122 potential related articles were reviewed by the panel members; 118 relevant articles were ultimately included in this summary. Conclusions Recent literature and guidelines emphasize accurate diagnosis of acute otitis media and optimal management of ear pain. Watchful waiting is optional in mild to moderate acute otitis media; antibiotics do shorten symptoms and duration of middle ear effusion. The additive benefit of adenoidectomy to tympanostomy tubes in recurrent acute otitis media and otitis media with effusion is controversial and age dependent. Topical antibiotic is the treatment of choice in acute tube otorrhea. Symptomatic hearing loss due to persistent otitis media with effusion is best treated with tympanostomy tubes. Novel molecular and biomaterial treatments as adjuvants to surgical closure of eardrum perforations seem promising. There is insufficient evidence to support the use of complementary and alternative treatments. Implications for Practice Emphasis on accurate diagnosis of otitis media, in its various forms, is important to reduce overdiagnosis, overtreatment, and antibiotic resistance. Children at risk for otitis media and its complications deserve special attention.

Differential diagnosis of delayed awakening from general anesthesia: a review.

PubMed

Frost, Elizabeth A M

2014-10-01

With the general use of fast acting anesthetic agents, patients usually awaken quickly in the post operative period. However, sometimes recovery is protracted and the list of possible causes in long. Accurate diagnosis is key to institution of appropriate therapy.

Comparison of CT and MRI in diagnosis of cerebrospinal leak induced by multiple fractures of skull base

PubMed Central

Wang, Xuhui; Xu, Minhui; Liang, Hong; Xu, Lunshan

2011-01-01

Background Multiple basilar skull fracture and cerebrospinal leak are common complications of traumatic brain injury, which required a surgical repair. But due to the complexity of basilar skull fracture after severe trauma, preoperatively an exact radiological location is always difficult. Multi-row spiral CT and MRI are currently widely applied in the clinical diagnosis. The present study was performed to compare the accuracy of cisternography by multi-row spiral CT and MRI in the diagnosis of cerebrospinal leak. Methods A total of 23 patients with multiple basilar skull fracture after traumatic brain injury were included. The radiological and surgical data were retrospectively analyzed. 64-row CT (mm/row) scan and three-dimensional reconstruction were performed in 12 patients, while MR plain scan and cisternography were performed in another 11 patients. The location of cerebrospinal leak was diagnosed by 2 experienced physicians majoring neurological radiology. Surgery was performed in all patients. The cerebrospinal leak location was confirmed and repaired during surgery. The result was considered as accurate when cerebrospinal leak was absent after surgery. Results According to the surgical exploration, the preoperative diagnosis of the active cerebrospinal leak location was accurate in 9 out of 12 patients with CT scan. The location could not be confirmed by CT because of multiple fractures in 2 patients and the missed diagnosis occurred in 1 patient. The preoperative diagnosis was accurate in 10 out of 11 patients with MRI examination. Conclusions MRI cisternography is more advanced than multi-row CT scan in multiple basilar skull fracture. The combination of the two examinations may increase the diagnostic ratio of active cerebrospinal leak. PMID:22933941

Epidemiology and Diagnosis of Hypoparathyroidism

PubMed Central

Brown, Edward M.; Collins, Michael T.; Jüppner, Harald; Lakatos, Peter; Levine, Michael A.; Mannstadt, Michael M.; Bilezikian, John P.; Romanischen, Anatoly F.; Thakker, Rajesh V.

2016-01-01

Context: Hypoparathyroidism is a disorder characterized by hypocalcemia due to insufficient secretion of PTH. Pseudohypoparathyroidism is a less common disorder due to target organ resistance to PTH. This report summarizes the results of the findings and recommendations of the Working Group on Epidemiology and Diagnosis of Hypoparathyroidism. Evidence Acquisition: Each contributing author reviewed the recent published literature regarding epidemiology and diagnosis of hypoparathyroidism using PubMed and other medical literature search engines. Evidence Synthesis: The prevalence of hypoparathyroidism is an estimated 37 per 100 000 person-years in the United States and 22 per 100 000 person-years in Denmark. The incidence in Denmark is approximately 0.8 per 100 000 person-years. Estimates of prevalence and incidence of hypoparathyroidism are currently lacking in most other countries. Hypoparathyroidism increases the risk of renal insufficiency, kidney stones, posterior subcapsular cataracts, and intracerebral calcifications, but it does not appear to increase overall mortality, cardiovascular disease, fractures, or malignancy. The diagnosis depends upon accurate measurement of PTH by second- and third-generation assays. The most common etiology is postsurgical hypoparathyroidism, followed by autoimmune disorders and rarely genetic disorders. Even more rare are etiologies including parathyroid gland infiltration, external radiation treatment, and radioactive iodine therapy for thyroid disease. Differentiation between these different etiologies is aided by the clinical presentation, serum biochemistries, and in some cases, genetic testing. Conclusions: Hypoparathyroidism is often associated with complications and comorbidities. It is important for endocrinologists and other physicians who care for these patients to be aware of recent advances in the epidemiology, diagnosis, and genetics of this disorder. PMID:26943720

Accurate diagnosis of prenatal cleft lip/palate by understanding the embryology

PubMed Central

Smarius, Bram; Loozen, Charlotte; Manten, Wendy; Bekker, Mireille; Pistorius, Lou; Breugem, Corstiaan

2017-01-01

Cleft lip with or without cleft palate (CP) is one of the most common congenital malformations. Ultrasonographers involved in the routine 20-wk ultrasound screening could encounter these malformations. The face and palate develop in a very characteristic way. For ultrasonographers involved in screening these patients it is crucial to have a thorough understanding of the embryology of the face. This could help them to make a more accurate diagnosis and save time during the ultrasound. Subsequently, the current postnatal classification will be discussed to facilitate the communication with the CP teams. PMID:29026689

Getting the most from dermatopathology.

PubMed

Campbell, Gregory A; Sauber, Leslie

2007-03-01

Dermatohistopathology is one of the most powerful diagnostic tools in clinical dermatology. It is a process in which the veterinary clinician and the veterinary pathologist must consider themselves a team in patient care. The veterinary clinician must know when biopsies are indicated; be able to select lesions to biopsy that are likely to yield diagnostic results; skillfully procure the biopsy samples; and provide the pathologist with an accurate history, clinical description, and clinical differential diagnosis. The pathologist should have particular interest and expertise in dermatohistopathology, be readily accessible to the clinician, and be vigilant in the pursuit of an accurate histologic description and diagnosis.

Iron Overload and Chelation Therapy in Non-Transfusion Dependent Thalassemia.

PubMed

Bou-Fakhredin, Rayan; Bazarbachi, Abdul-Hamid; Chaya, Bachar; Sleiman, Joseph; Cappellini, Maria Domenica; Taher, Ali T

2017-12-20

Iron overload (IOL) due to increased intestinal iron absorption constitutes a major clinical problem in patients with non-transfusion-dependent thalassemia (NTDT), which is a cumulative process with advancing age. Current models for iron metabolism in patients with NTDT suggest that suppression of serum hepcidin leads to an increase in iron absorption and subsequent release of iron from the reticuloendothelial system, leading to depletion of macrophage iron, relatively low levels of serum ferritin, and liver iron loading. The consequences of IOL in patients with NTDT are multiple and multifactorial. Accurate and reliable methods of diagnosis and monitoring of body iron levels are essential, and the method of choice for measuring iron accumulation will depend on the patient's needs and on the available facilities. Iron chelation therapy (ICT) remains the backbone of NTDT management and is one of the most effective and practical ways of decreasing morbidity and mortality. The aim of this review is to describe the mechanism of IOL in NTDT, and the clinical complications that can develop as a result, in addition to the current and future therapeutic options available for the management of IOL in NTDT.

Clinical Diagnosis among Diverse Populations: A Multicultural Perspective.

ERIC Educational Resources Information Center

Solomon, Alison

1992-01-01

Discusses four ways in which clinical diagnosis can be detrimental to minority clients: (1) cultural expressions of symptomatology; (2) unreliable research instruments; (3) clinician bias; and (4) institutional racism. Recommendations to avoid misdiagnosis begin with accurate assessment of a client's history and cultural background. (SLD)

Cost and cost-effectiveness of digital mammography compared with film-screen mammography in Australia.

PubMed

Wang, Shuhong; Merlin, Tracy; Kreisz, Florian; Craft, Paul; Hiller, Janet E

2009-10-01

A systematic review assessed the relative safety and effectiveness of digital mammography compared with film-screen mammography. This study utilised the evidence from the review to examine the economic value of digital compared with film-screen mammography in Australia. A cost-comparison analysis between the two technologies was conducted for the overall population for the purposes of breast cancer screening and diagnosis. In addition, a cost-effectiveness analysis was conducted for the screening subgroups where digital mammography was considered to be more accurate than film-screen mammography. Digital mammography in a screening setting is $11 more per examination than film-screen mammography, and $36 or $33 more per examination in a diagnostic setting when either digital radiography or computed radiography is used. In both the screening and diagnostic settings, the throughput of the mammography system had the most significant impact on decreasing the incremental cost/examination/year of digital mammography. Digital mammography is more expensive than film-screen mammography. Whether digital mammography represents good value for money depends on the eventual life-years and quality-adjusted life-years gained from the early cancer diagnosis. The evidence generated from this study has informed the allocation of public resources for the screening and diagnosis of breast cancer in Australia.

Important hemoprotozoan diseases of livestock: Challenges in current diagnostics and therapeutics: An update

PubMed Central

Maharana, Biswa Ranjan; Tewari, Anup Kumar; Saravanan, Buddhi Chandrasekaran; Sudhakar, Naduvanahalli Rajanna

2016-01-01

Hemoprotozoan parasites pose a serious threat to the livestock population in terms of mortality, reduced milk yield and lowered draft power. Diagnosis of these diseases often poses a challenging task. Needless to say that impact of disease in health and productivity is huge though a fair economic assessment on the quantum of economic loss associated is yet to be worked out from India. The diagnosis of hemoprotozoan infections largely depends on various laboratory-based diagnostic methods as the clinical manifestations are often inconspicuous and non-specific. Traditional diagnostic methods rely on microscopical demonstration of infective stages in blood or tissue fluids. However, it is laborious, lesser sensitive, and cannot differentiate between morphologically similar organisms. Recent development in the technologies has opened new avenues for improvement in the accurate diagnosis of parasitic infections. Serological tests are simple, fast but lack specificity. With advent of molecular techniques, as DNA hybridization assays, polymerase chain reaction and its modifications ensure the detection of infection in the latent phase of the disease. Nucleic acid-based assays are highly sensitive, free from immunocompetence and can differentiate between morphologically similar parasites. With the advent of newer diagnostics complemented with traditional ones will be of huge help for targeted selective treatment with better chemotherapeutic agents. PMID:27284225

Primary malignant melanoma of the female urethra: Report of a rare neoplasm of the urinary tract.

PubMed

Bhutani, Namita; Kajal, Pradeep; Pawar, Devendra

2017-01-01

Melanoma is a malignant tumor that can affect any area of the anatomical economy. Its occurance in the female urethra is extremely rare. We report a case of primary malignant urethral melanoma developed in an elderly female patient. A 70 years old female presented with dysuria, poor stream, gross haematuria, intermittent blood spots, and a painful mass. On physical examination, there were no suspicious lesions on the skin. On external genital examination, a lesion at the level of the urethral meatus was observed. The mass was removed by wide local excision under spinal anaesthesia. The pathological diagnosis was malignant melanoma of the urethra. The common presentations include bleeding and/or discharge per urethra, voiding dysfunction and the presence of tumor mass. Survival depends on the stage, location and size of the neoplasm at the time of diagnosis. Despite major surgery, radiotherapy or immunotherapy; malignant melanoma usually has a poor prognosis. Melanoma of the female urethra is an extremely uncommon pathology leading to paucity of literature and any definite recommendations regarding management. The histological and immunohistochemical findings can be helpful in making an early and accurate diagnosis of malignant melanoma in the urogenital region. Copyright © 2017. Published by Elsevier Ltd.

[Ambulatory blood pressure monitoring for hypertension diagnosis?

PubMed

Gijón Conde, T; Banegas, J R

2017-01-01

The early and accurate diagnosis of hypertension is essential given its importance in the development of cardiovascular disease. The boundaries between normal blood pressure (BP) and hypertension are arbitrary and based on the benefits of treating exceeding those of not treating. Conventional BP measurement at the clinic only offers information of a particular time and presents multiple biases dependent on inherent variability of BP and measurement technique itself. Multiple studies have demonstrated the prognosis superiority in the development of cardiovascular disease of ambulatory blood pressure monitoring (ABPM), allows detection of white coat hypertension, avoiding overdiagnosis and overtreatment, and the detection of patients with masked hypertension who are at risk of underdetection and undertreatment. ABPM also assess nightime BP and circadian variability, providing additional prognostic value. ABPM is recognized in the diagnosis of hypertension in 2011 British NICE Guidelines, very argued at the 2013 European Society of Hypertension guidelines, and recommended in the US Preventive Services Task Force in 2015, 2016 Canadian Guidelines and the 2016 Spanish Program of Preventive Activities and Health Promotion (PAPPS). Its generalization is likely to be only a matter of time. Copyright © 2017 Sociedad Española de Hipertension-Liga Española para la Lucha de la Hipertensión Arterial (SEH-LELHA). Publicado por Elsevier España, S.L.U. All rights reserved.

Lateral epicondylitis and beyond: imaging of lateral elbow pain with clinical-radiologic correlation.

PubMed

Kotnis, Nikhil A; Chiavaras, Mary M; Harish, Srinivasan

2012-04-01

The diagnosis of lateral epicondylitis is often straightforward and can be made on the basis of clinical findings. However, radiological assessment is valuable where the clinical picture is less clear or where symptoms are refractory to treatment. Demographics, aspects of clinical history, or certain physical signs may suggest an alternate diagnosis. Knowledge of the typical clinical presentation and imaging findings of lateral epicondylitis, in addition to other potential causes of lateral elbow pain, is necessary. These include entrapment of the posterior interosseous and lateral antebrachial cutaneous nerves, posterolateral rotatory instability, posterolateral plica syndrome, Panner's disease, osteochondritis dissecans of the capitellum, radiocapitellar overload syndrome, occult fractures and chondral-osseous impaction injuries, and radiocapitellar arthritis. Knowledge of these potential masquerades of lateral epicondylitis and their characteristic clinical and imaging features is essential for accurate diagnosis. The goal of this review is to provide an approach to the imaging of lateral elbow pain, discussing the relevant anatomy, various causes, and discriminating factors, which will allow for an accurate diagnosis.

Time-resolved contrast-enhanced MRA (TWIST) with gadofosveset trisodium in the classification of soft-tissue vascular anomalies in the head and neck in children following updated 2014 ISSVA classification: first report on systematic evaluation of MRI and TWIST in a cohort of 47 children.

PubMed

Higgins, L J; Koshy, J; Mitchell, S E; Weiss, C R; Carson, K A; Huisman, T A G M; Tekes, A

2016-01-01

To evaluate the relative accuracy of contrast-enhanced time-resolved angiography with interleaved stochastic trajectories versus conventional contrast-enhanced magnetic resonance imaging (MRI) following International Society for the Study of Vascular Anomalies updated 2014-based classification of soft-tissue vascular anomalies in the head and neck in children. Time-resolved angiography with interleaved stochastic trajectories versus conventional contrast-enhanced MRI of children with diagnosis of soft-tissue vascular anomalies in the head and neck referred for MRI between 2008 and 2014 were retrospectively reviewed. Forty-seven children (0-18 years) were evaluated. Two paediatric neuroradiologists evaluated time-resolved MRA and conventional MRI in two different sessions (30 days apart). Blood-pool endovascular MRI contrast agent gadofosveset trisodium was used. The present cohort had the following diagnoses: infantile haemangioma (n=6), venous malformation (VM; n=23), lymphatic malformation (LM; n=16), arteriovenous malformation (AVM; n=2). Time-resolved MRA alone accurately classified 38/47 (81%) and conventional MRI 42/47 (89%), respectively. Although time-resolved MRA alone is slightly superior to conventional MRI alone for diagnosis of infantile haemangioma, conventional MRI is slightly better for diagnosis of venous and LMs. Neither time-resolved MRA nor conventional MRI was sufficient for accurate diagnosis of AVM in this cohort. Conventional MRI combined with time-resolved MRA accurately classified 44/47 cases (94%). Time-resolved MRA using gadofosveset trisodium can accurately classify soft-tissue vascular anomalies in the head and neck in children. The addition of time-resolved MRA to existing conventional MRI protocols provides haemodynamic information, assisting the diagnosis of vascular anomalies in the paediatric population at one-third of the dose of other MRI contrast agents. Copyright © 2015 The Royal College of Radiologists. Published by Elsevier Ltd. All rights reserved.

[Value of liquid-based cytology of brushing specimens obtained via fiberoptic bronchoscopy for the diagnosis of lung cancer].

PubMed

Zhao, Huan; Guo, Huiqin; Zhang, Chuanxin; Zhao, Linlin; Cao, Jian; Pan, Qinjing

2015-06-01

To investigate the value of the liquid-based cytology (LBC) of brushing specimens obtained via fiberoptic bronchoscopy for clinical diagnosis of lung cancer. We retrospectively analyzed the LBC cases in our hospital from January 2011 to May 2012, and evaluate its role in the diagnosis of lung cancer. The clinical data of a total of 4 380 cases were reviewed and 3 763 of them had histopathological or clinical follow-up results (including 3 306 lung cancer cases and 457 benign lesion cases). The sensitivity, specificity, and accuracy of LBC diagnosis for lung cancer were 72.4% (2 392/3 306), 99.3% (454/457) and 75.6% (2 846/3 763), respectively. Of the 1 992 lung cancer cases diagnosed by brushing LBC, 528 cases (26.5%) were failed to take forceps biopsy and 113 cases (5.7%) showed negative forceps biopsy results. The accurate rate of subtyping of LBC for non-small cell carcinoma and small cell carcinoma was 99.0% (1 487/1 502) (P < 0.001). Take the resection histopathology as gold standard, the accurate rates of subtyping squamous cell carcinoma, adenocarcinoma and small cell carcinoma by LBC were 95.6% (351/367), 95.6% (351/367) and 100% (367/367), respectively, (P < 0.001). The accurate rates of subtyping of squamous cell carcinoma, adenocarcinoma and small cell carcinoma by forceps biopsy were 97.0% (293/302), 97.4% (294/302) and 99.7% (301/302), respectively, (Kappa = 0.895, P < 0.001). There was no significant difference in subtyping respectively between forceps biopsy and brushing LBC (P > 0.05). Fiberoptic bronchoscopic brushing liquid-based cytology can significantly improve the detection rate of lung cancer, and have a high specificity and accurate rate of subtyping. It is an effective tool for the diagnosis and subtyping of lung cancer.

Diagnosis and Treatment of Eating Disorders.

ERIC Educational Resources Information Center

Neuman, Patricia; And Others

This paper was designed to provide professional counselors with a comprehensive but concise method of accurately evaluting, interviewing, and planning for treatment of eating disorder clients. The paper is organized in five sections. The first section, Diagnosis, compares, contrasts, and offers clear explanations of the diagnostic criteria for…

Sarcococca blight: Use of whole genome sequencing as a strategy for fungal disease diagnosis

USDA-ARS?s Scientific Manuscript database

Early and accurate diagnosis of new plant pathogens is vital for the rapid implementation of effective mitigation strategies and appropriate regulatory responses. Most commonly, pathogen identification relies on morphology and DNA marker analysis. However, for new diseases, these approaches may not...

Testing Physical Diagnosis Skills with Videotape

ERIC Educational Resources Information Center

Stillman, Paula L.; And Others

1977-01-01

An inexpensive videotape testing system has been developed at the Department of Pediatrics and Department of Medical TV-Cinematography at the University of Arizona College of Medicine. The development and validation of a test using this system to assess observational skills important for accurate physical diagnosis are described. (LBH)

Inter-observer variation in the diagnosis of neurologic abnormalities in the horse

USDA-ARS?s Scientific Manuscript database

Background – The diagnosis of EPM relies heavily on the clinical examination. The accurate identification of neurologic signs during a clinical examination is critical to the interpretation of laboratory results. Objective – To investigate the level of agreement between board-certified veterinary in...

Coping with Autism: The Parental Journey of Adjustment

ERIC Educational Resources Information Center

Agnello, Barbara A.

2010-01-01

Autism is a pervasive developmental disorder that has attracted extensive media attention for its drastic increase in diagnosis over the past several years. Increased media attention creates some barriers to parents' obtaining accurate, realistic, and objective information about diagnosis, efficacy of interventions, and potential outcomes.…

Can we rely on the multiplex ligation-dependent probe amplification method (MLPA) for prenatal diagnosis?

PubMed Central

Omrani, Mir Davood; Azizi, Faezeh; Rajabibazl, Masoumeh; Safavi Naini, Niloufar; Omrani, Sara; Abbasi, Arezo Mona; Saleh Gargari, Soraya

2014-01-01

Background: The major aneuploidies that are diagnosed prenatally involve the autosomal chromosomes 13, 18, and 21, as well as sex chromosomes, X and Y. Because multiplex ligation-dependent probe amplification (MLPA) is rapid and non-invasive, it has replaced traditional culture methods for the screening and diagnosis of common aneuploidies in some countries. Objective: To evaluate the sensitivity and specificity of MLPA in a cross-sectional descriptive study for the detection of chromosomal aneuploidies in comparison to other methods. Materials and Methods: Genomic DNA was extracted from the peripheral blood samples of 10 normal controls and the amniotic fluid of 55 patients. Aneuploidies screening of chromosomes 13, 18, 21, X and Y were carried out using specific MLPA probe mixes (P095-A2). For comparison purposes, samples were also tested by Quantitative Fluorescent-PCR (QF-PCR) and routine chromosomal culture method. Results: Using this specific MLPA technique and data-analyzing software (Genemarker v1.85), one case was diagnosed with 45, X (e.g. Monosomy X or Turner’s Syndrome), and the remaining 54 cases revealed normal karyotypes. These results were concordant with routine chromosomal culture and QF-PCR findings. Conclusion: The experiment demonstrates that MLPA can provide a rapid and accurate clinical method for prenatal identification of common chromosomal aneuploidies with 100% sensitivity and 100% specificity. PMID:24976821

Prosthetic mitral valve obstruction: role of real-time three-dimensional transesophageal echocardiography in diagnosis.

PubMed

Kannan, Arun; Jahan, Kahroba; Lotun, Kapildeo; Janardhanan, Rajesh

2015-09-21

Acute prosthetic valve thrombosis is a potentially serious complication with an incidence as high as 6% per patient-year for prostheses in the mitral position. Accurate diagnosis of the degree of obstruction and differentiation of pannus versus thrombus is critical in determination of the best mode of therapy. We discuss a case of a patient with multiple comorbidities who presented with mechanical mitral valve obstruction where both transthoracic and two-dimensional transesophageal echocardiography (TEE) were limited in making an accurate diagnosis regarding the mechanism of obstruction. Real-time 3D-TEE (RT-3DTEE) was critical in identifying a partial thrombus on the mechanical valve and guided the choice of thrombolysis as the most appropriate intervention, thus avoiding high-risk surgery in this patient with significant multiple comorbidities. 2015 BMJ Publishing Group Ltd.

Prosthetic mitral valve obstruction: role of real-time three-dimensional transesophageal echocardiography in diagnosis

PubMed Central

Kannan, Arun; Jahan, Kahroba; Lotun, Kapildeo; Janardhanan, Rajesh

2015-01-01

Acute prosthetic valve thrombosis is a potentially serious complication with an incidence as high as 6% per patient-year for prostheses in the mitral position. Accurate diagnosis of the degree of obstruction and differentiation of pannus versus thrombus is critical in determination of the best mode of therapy. We discuss a case of a patient with multiple comorbidities who presented with mechanical mitral valve obstruction where both transthoracic and two-dimensional transesophageal echocardiography (TEE) were limited in making an accurate diagnosis regarding the mechanism of obstruction. Real-time 3D-TEE (RT-3DTEE) was critical in identifying a partial thrombus on the mechanical valve and guided the choice of thrombolysis as the most appropriate intervention, thus avoiding high-risk surgery in this patient with significant multiple comorbidities. PMID:26392458

Translocations, inversions and other chromosome rearrangements.

PubMed

Morin, Scott J; Eccles, Jennifer; Iturriaga, Amanda; Zimmerman, Rebekah S

2017-01-01

Chromosomal rearrangements have long been known to significantly impact fertility and miscarriage risk. Advancements in molecular diagnostics are challenging contemporary clinicians and patients in accurately characterizing the reproductive risk of a given abnormality. Initial attempts at preimplantation genetic diagnosis were limited by the inability to simultaneously evaluate aneuploidy and missed up to 70% of aneuploidy in chromosomes unrelated to the rearrangement. Contemporary platforms are more accurate and less susceptible to technical errors. These techniques also offer the ability to improve outcomes through diagnosis of uniparental disomy and may soon be able to consistently distinguish between normal and balanced translocation karyotypes. Although an accurate projection of the anticipated number of unbalanced embryos is not possible at present, confirmation of normal/balanced status results in high pregnancy rates (PRs) and diagnostic accuracy. Copyright © 2016 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.

Comments on the 2014 Helsinki Consensus Report on Asbestos.

PubMed

Landrigan, Philip J

2016-01-01

The Finnish Institute of Occupational Health (FIOH) convened an Expert Committee in 2014 to update the 1997 and 2000 Helsinki criteria on asbestos, asbestosis, and cancer. The Collegium Ramazzini reviewed the criteria for pathological diagnosis of the diseases caused by asbestos presented in the 2014 Helsinki Consensus Report and compared them with the widely used diagnostic criteria developed in 1982 by the College of American Pathologists and the National Institutes of Occupational Safety and Health (CAP-NIOSH). The sections of the Helsinki Consensus Report dealing with pathological diagnosis are based on a biased and selective reading of the scientific literature. They are heavily influenced by the outdated and incorrect concept that analysis of lung tissue for asbestos bodies and asbestos fibers can provide accurate information on past exposure to asbestos. Five specific problems are : Accurate diagnosis of the diseases caused by asbestos must be based on a carefully obtained history of occupational exposure. An accurate exposure history is a far more sensitive and specific indicator of asbestos exposure than asbestos body counting or lung fiber burden analysis. The sections of the 2014 Helsinki Consensus Report on asbestos, asbestosis, and cancer dealing with pathologic diagnosis of the diseases caused by asbestos appear to have been influenced by members of the Expert Committee with undisclosed financial conflicts of interest. Copyright © 2016 The Authors. Published by Elsevier Inc. All rights reserved.

Validation of consensus panel diagnosis in dementia.

PubMed

Gabel, Matthew J; Foster, Norman L; Heidebrink, Judith L; Higdon, Roger; Aizenstein, Howard J; Arnold, Steven E; Barbas, Nancy R; Boeve, Bradley F; Burke, James R; Clark, Christopher M; Dekosky, Steven T; Farlow, Martin R; Jagust, William J; Kawas, Claudia H; Koeppe, Robert A; Leverenz, James B; Lipton, Anne M; Peskind, Elaine R; Turner, R Scott; Womack, Kyle B; Zamrini, Edward Y

2010-12-01

The clinical diagnosis of dementing diseases largely depends on the subjective interpretation of patient symptoms. Consensus panels are frequently used in research to determine diagnoses when definitive pathologic findings are unavailable. Nevertheless, research on group decision making indicates that many factors can adversely affect panel performance. To determine conditions that improve consensus panel diagnosis. Comparison of neuropathologic diagnoses with individual and consensus panel diagnoses based on clinical scenarios only, fludeoxyglucose F 18 positron emission tomography images only, and scenarios plus images. Expert and trainee individual and consensus panel deliberations using a modified Delphi method in a pilot research study of the diagnostic utility of fludeoxyglucose F 18 positron emission tomography. Forty-five patients with pathologically confirmed Alzheimer disease or frontotemporal dementia. Statistical measures of diagnostic accuracy, agreement, and confidence for individual raters and panelists before and after consensus deliberations. The consensus protocol using trainees and experts surpassed the accuracy of individual expert diagnoses when clinical information elicited diverse judgments. In these situations, consensus was 3.5 times more likely to produce positive rather than negative changes in the accuracy and diagnostic certainty of individual panelists. A rule that forced group consensus was at least as accurate as majority and unanimity rules. Using a modified Delphi protocol to arrive at a consensus diagnosis is a reasonable substitute for pathologic information. This protocol improves diagnostic accuracy and certainty when panelist judgments differ and is easily adapted to other research and clinical settings while avoiding the potential pitfalls of group decision making.

Summary of recommendations for the diagnosis and treatment of malaria by the Committee to Advise on Tropical Medicine and Travel (CATMAT)

PubMed Central

Boggild, A; Brophy, J; Charlebois, P; Crockett, M; Geduld, J; Ghesquiere, W; McDonald, P; Plourde, P; Teitelbaum, P; Tepper, M; Schofield, S; McCarthy, A

2014-01-01

Background On behalf of the Public Health Agency of Canada, the Committee to Advise on Tropical Medicine and Travel (CATMAT) developed the Canadian Recommendations for the Prevention and Treatment of Malaria Among International Travellers for Canadian health care providers who are preparing patients for travel to malaria-endemic areas and treating travellers who have returned ill. These recommendations aim to achieve appropriate diagnosis and management of malaria, a disease that is still uncommon in Canada. Objective To provide recommendations on the appropriate diagnosis and treatment of malaria. Methods CATMAT reviewed all major sources of information on malaria diagnosis and treatment, as well as recent research and national and international epidemiological data, to tailor guidelines to the Canadian context. The evidence-based medicine recommendations were developed with associated rating scales for the strength and quality of the evidence. Recommendations Malarial management depends on rapid identification of the disease, as well as identification of the malaria species and level of parasitemia. Microscopic identification of blood samples is both rapid and accurate but can be done only by trained laboratory technicians. Rapid diagnostic tests are widely available, are simple to use and do not require specialized laboratory equipment or training; however, they do not provide the level of parasitemia and do require verification. Polymerase chain reaction (PCR), although still limited in availability, is emerging as the gold standard for high sensitivity and specificity in identifying the species. PMID:29769894

Video clip transfer of radiological images using a mobile telephone in emergency neurosurgical consultations (3G Multi-Media Messaging Service).

PubMed

Waran, Vicknes; Bahuri, Nor Faizal Ahmad; Narayanan, Vairavan; Ganesan, Dharmendra; Kadir, Khairul Azmi Abdul

2012-04-01

The purpose of this study was to validate and assess the accuracy and usefulness of sending short video clips in 3gp file format of an entire scan series of patients, using mobile telephones running on 3G-MMS technology, to enable consultation between junior doctors in a neurosurgical unit and the consultants on-call after office hours. A total of 56 consecutive patients with acute neurosurgical problems requiring urgent after-hours consultation during a 6-month period, prospectively had their images recorded and transmitted using the above method. The response to the diagnosis and the management plan by two neurosurgeons (who were not on site) based on the images viewed on a mobile telephone were reviewed by an independent observer and scored. In addition to this, a radiologist reviewed the original images directly on the hospital's Patients Archiving and Communication System (PACS) and this was compared with the neurosurgeons' response. Both neurosurgeons involved in this study were in complete agreement with their diagnosis. The radiologist disagreed with the diagnosis in only one patient, giving a kappa coefficient of 0.88, indicating an almost perfect agreement. The use of mobile telephones to transmit MPEG video clips of radiological images is very advantageous for carrying out emergency consultations in neurosurgery. The images accurately reflect the pathology in question, thereby reducing the incidence of medical errors from incorrect diagnosis, which otherwise may just depend on a verbal description.

Diagnostic uncertainty in a severely demented male patient: a case report

PubMed Central

Maiovis, Pantelis; Gavopoulou, Evgenia; Eleftheriou, Marina; Tsokanari, Ioanna; Tsolaki, Magda

2008-01-01

Introduction Current trends in dementia research focus on early and accurate diagnosis. In clinical practice however, this is not always possible, as multiple underlying pathologies produce mixed dementia syndromes. Furthermore, patients with severe dementia are often underestimated. Case presentation We present a case of a 71 year old Caucasian male with severe Alzheimer's Disease, bedridden and fully dependent in activities of everyday living, whose general cognitive function is almost intact. We emphasize on the diverse underlying pathologies contributing to this intriguing clinical presentation and to diagnostic uncertainty. Conclusion Understanding the complexity of the dementia process in every patient using a multidimensional approach, contributes to more rational management strategies and finally to high quality care for patients and caregivers. PMID:18928571

Differential Diagnosis of Autism Spectrum Disorder and Post Traumatic Stress Disorder: Two Clinical Cases

PubMed Central

Stavropoulos, Katherine Kuhl-Meltzoff; Bolourian, Yasamine; Blacher, Jan

2018-01-01

Autism spectrum disorder (ASD) is estimated to affect one in 68 children. Given the increase in both prevalence and awareness of ASD, it is critical to provide accurate and timely diagnosis. However, ASD often co-occurs with other disorders, making diagnosis difficult. The objective of the current case study was to provide two examples of differential diagnosis in ASD and post-traumatic stress disorder (PTSD) observed in an autism clinic. In both cases, the goal was to decide whether each child should be given a diagnosis of ASD, PTSD, or both. PMID:29642485

An Expert System for Diagnosis of Broiler Diseases using Certainty Factor

NASA Astrophysics Data System (ADS)

Setyohadi, D. P. S.; Octavia, R. A.; Puspitasari, T. D.

2018-01-01

Broilers are defined as chickens of meat-type strains raised specifically for meat production. Based on data production from the Ministry of the Republic of Indonesia raised 3.76% from 2015 - 2016. But in reality the price of chicken is expensive, because the amount of market demand is more than the amount of production. Harvest failure due to chicken disease is one of the causes. Detecting diseases at early stage can enable to overcome and treat them appropriately. Identifying the treatment accurately depends on the method that is used in diagnosing the diseases. A Diagnosis expert system can help a great deal in identifying those diseases and describing methods of treatment to be carried out taking into account the user capability in order to deal and interact with expert system easily and clearly. This system has 25 symptoms and 6 diseases using certainty factor method to solve the problem of uncertainty. The result of the research is that Broiler Expert System has been successfully identifying diseases that can solve the problem with accuracy 90%.

Giant intrascrotal embryonal rhabdomyosarcoma in an adult: a case report and review of the literature.

PubMed

Gong, Wentao; Gao, Qingqiang; Xu, Zhipeng; Dai, Yutian

2018-05-28

Intrascrotal embryonal rhabdomyosarcoma in adults is a rare tumor with high aggression and a poor prognosis. We report our patient's case and review the relevant literature to improve the understanding of this rare disease. A 21-year-old Han Chinese man presented to our hospital with a right intrascrotal mass of 1 year's duration. His physical examination revealed an enlarged right scrotum containing a huge tender mass measuring about 10 × 7 cm. Ordinary and contrast-enhanced ultrasonography showed a solid mass in the right scrotum, which was suspected to be a malignant tumor. An abdominopelvic computed tomographic scan revealed metastases in the retroperitoneal lymph nodes. The patient was diagnosed with malignant testicular tumor and underwent a right radical orchiectomy by an inguinal approach. Postoperative pathological examination suggested an intrascrotal embryonal rhabdomyosarcoma. Intrascrotal embryonal rhabdomyosarcoma is a rare but highly aggressive tumor. Clinical and imaging manifestations of this tumor are nonspecific, so the definitive diagnosis depends on postoperative pathology and immunohistochemistry. Early suspicion, radical orchiectomy, accurate pathologic diagnosis, and adjuvant chemotherapy and/or radiotherapy are the keys to optimal prognosis.

Teething troubles?

PubMed

McIntyre, G T; McIntyre, G M

2002-03-09

The relationship between the eruption of the deciduous teeth and the general health of infants has been documented for over 5,000 years. A variety of physical disturbances (anything from minor upsets to potentially fatal illnesses) have historically been attributed to teething, however a number of recent publications have alluded to a clarification of some of the disputed features of teething. It is now accepted that the localised symptoms of teething vary between individuals, however, 'teething' continues to be an inappropriate diagnosis proffered by both healthcare professionals and lay people. Severe systemic upsets are unrelated to teething and, if present, the infant should be promptly referred to a physician for an accurate diagnosis and appropriate treatment. The treatment modalities used in teething have been diverse throughout the ages, frequently depending on the tenets of the medical profession and lay people, but now principally involve pain relief. This article examines the signs and symptoms frequently attributed to teething and their possible alternative causes. The contemporary principles of the management of teething are discussed, including supportive measures, the diverse range of available topical and systemic pharmacological preparations and the 'alternative' holistic therapies.

Early pregnancy assessment in multiple pregnancies.

PubMed

D'Antonio, Francesco; Bhide, Amar

2014-02-01

Early ultrasound assessment and accurate determination of chorionicity is crucial so that appropriate care of multiple pregnancy can be provided. It is best achieved in the first trimester of pregnancy using the Lambda 'λ' and 'T' signs. Accurate labelling of the twins is needed to ensure that the same individual fetus is measured through the pregnancy so that the longitudinal growth pattern can be correctly assessed. Discrepancy in crown-rump length indicates a possibility for future development of selective intrauterine growth restriction. Careful early ultrasound assessment is needed to identify structural and chromosomal anomalies, as twin pregnancies are at increased risk. Twin-to-twin transfusion syndrome, selective intrauterine growth restriction and congenital abnormalities represent the major determinants of perinatal loss in monochorionic pregnancies, and diagnosis and prognosis are discussed in detail. Treatment of twin reverse arterial perfusion sequence is more effective in early pregnancy, so early identification is needed. Outcome of conjoined twins is guarded, and is dependent on the extent of fusion, degree of sharing of organs, associated anomalies, and presence of cardiac failure in utero. Copyright © 2013 Elsevier Ltd. All rights reserved.

Detection of Hepatic Fibrosis in Ex Vivo Liver Samples Using an Open-Photoacoustic-Cell Method: Feasibility Study

NASA Astrophysics Data System (ADS)

Stolik, S.; Fabila, D. A.; de la Rosa, J. M.; Escobedo, G.; Suárez-Álvarez, K.; Tomás, S. A.

2015-09-01

Design of non-invasive and accurate novel methods for liver fibrosis diagnosis has gained growing interest. Different stages of liver fibrosis were induced in Wistar rats by intraperitoneally administering different doses of carbon tetrachloride. The liver fibrosis degree was conventionally determined by means of histological examination. An open-photoacoustic-cell (OPC) technique for the assessment of liver fibrosis was developed and is reported here. The OPC technique is based on the fact that the thermal diffusivity can be accurately measured by photoacoustics taking into consideration the photoacoustic signal amplitude versus the modulation frequency. This technique measures directly the heat generated in a sample, due to non-radiative de-excitation processes, following the absorption of light. The thermal diffusivity was measured with a home-made open-photoacoustic-cell system that was specially designed to perform the measurement from ex vivo liver samples. The human liver tissue showed a significant increase in the thermal diffusivity depending on the fibrosis stage. Specifically, liver samples from rats exhibiting hepatic fibrosis showed a significantly higher value of the thermal diffusivity than for control animals.

Patient-dependent count-rate adaptive normalization for PET detector efficiency with delayed-window coincidence events

NASA Astrophysics Data System (ADS)

Niu, Xiaofeng; Ye, Hongwei; Xia, Ting; Asma, Evren; Winkler, Mark; Gagnon, Daniel; Wang, Wenli

2015-07-01

Quantitative PET imaging is widely used in clinical diagnosis in oncology and neuroimaging. Accurate normalization correction for the efficiency of each line-of- response is essential for accurate quantitative PET image reconstruction. In this paper, we propose a normalization calibration method by using the delayed-window coincidence events from the scanning phantom or patient. The proposed method could dramatically reduce the ‘ring’ artifacts caused by mismatched system count-rates between the calibration and phantom/patient datasets. Moreover, a modified algorithm for mean detector efficiency estimation is proposed, which could generate crystal efficiency maps with more uniform variance. Both phantom and real patient datasets are used for evaluation. The results show that the proposed method could lead to better uniformity in reconstructed images by removing ring artifacts, and more uniform axial variance profiles, especially around the axial edge slices of the scanner. The proposed method also has the potential benefit to simplify the normalization calibration procedure, since the calibration can be performed using the on-the-fly acquired delayed-window dataset.

An investigation of the effects of measurement noise in the use of instantaneous angular speed for machine diagnosis

NASA Astrophysics Data System (ADS)

Gu, Fengshou; Yesilyurt, Isa; Li, Yuhua; Harris, Georgina; Ball, Andrew

2006-08-01

In order to discriminate small changes for early fault diagnosis of rotating machines, condition monitoring demands that the measurement of instantaneous angular speed (IAS) of the machines be as accurate as possible. This paper develops the theoretical basis and practical implementation of IAS data acquisition and IAS estimation when noise influence is included. IAS data is modelled as a frequency modulated signal of which the signal-to-noise ratio can be improved by using a high-resolution encoder. From this signal model and analysis, optimal configurations for IAS data collection are addressed for high accuracy IAS measurement. Simultaneously, a method based on analytic signal concept and fast Fourier transform is also developed for efficient and accurate estimation of IAS. Finally, a fault diagnosis is carried out on an electric induction motor driving system using IAS measurement. The diagnosis results show that using a high-resolution encoder and a long data stream can achieve noise reduction by more than 10 dB in the frequency range of interest, validating the model and algorithm developed. Moreover, the results demonstrate that IAS measurement outperforms conventional vibration in diagnosis of incipient faults of motor rotor bar defects and shaft misalignment.

Parsonage-Turner syndrome in a patient with bilateral shoulder pain: A case report.

PubMed

Ohta, Ryuichi; Shimabukuro, Akira

2017-11-01

Objective: Parsonage-Turner syndrome is a peripheral neuropathy characterized by acute onset shoulder pain, myalgia, and sensory disturbances. The present report discusses a rare case of Parsonage-Turner syndrome and highlights the importance of accurate history recording and thorough physical examination for the diagnosis of the disease in rural areas. Patient: A 28-year-old woman presented to our clinic with acute bilateral shoulder pain and difficulty moving her right arm. A diagnosis of Parsonage-Turner syndrome was suspected based on the progression of symptoms, severity of pain, and lack of musculoskeletal inflammation. The diagnosis was confirmed by neurological specialists, and the patient was treated with methylprednisolone, after which her symptoms gradually improved. Discussion: The differential diagnosis of shoulder pain is complicated due to the wide variety of conditions sharing similar symptoms. Accurate history recording and thorough physical examination are required to differentiate among conditions involving the central nerves, peripheral nerves, and nerve plexuses. Conclusion: Although the symptoms of Parsonage-Turner syndrome vary based on disease progression and the location of impairment, proper diagnosis of acute shoulder pain without central neurological symptoms can be achieved in rural areas via thorough examination.

The Differential Diagnosis of Pulmonary Blastomycosis Using Case Vignettes: A Wisconsin Network for Health Research (WiNHR) Study

PubMed Central

Baumgardner, Dennis J.; Temte, Jonathan L.; Gutowski, Erin; Agger, William A.; Bailey, Howard; Burmester, James K.; Banerjee, Indrani

2012-01-01

Purpose Pulmonary blastomycosis is an uncommon but serious fungal infection endemic in Wisconsin. Clinician awareness of the protean presentations of this disease may reduce diagnostic delay. This study addressed the diagnostic accuracy of physicians responding to case vignettes of pulmonary blastomycosis and the primary care differential diagnosis of this disease. Methods Eight pulmonary blastomycosis cases were developed from case files. From these, 2 vignettes were randomly selected and mailed to primary care physicians in the Wisconsin Network for Health Research. Respondents were asked to list the 3 most likely diagnoses for each case. Results Respondents listed Blastomycosis as the most likely diagnosis for 37/227 (16%) case vignettes, and 1 of the 3 most likely diagnoses for 43/227 (19%). When vignettes included patient activity in counties with an annual incidence rate of blastomycosis greater than 2/100,000, compared to counties with lower incidence rates, diagnosis was more accurate (28/61 [46%] vs 15/166 [9%]; P < 0.001). Physicians with practice locations in counties with annual blastomycosis incidence rates >2/100,000 listed blastomycosis more commonly than physicians from other counties (16/36 [44%] vs 27/177 [15%]; P < 0.001). This difference in accurate diagnosis remained significant in a multivariate model of practice demographics. Based on responses to the vignettes, pneumonia, cancer, non-infectious pulmonary disease, and tuberculosis emerged as the most-frequently noted diagnosis in the differential diagnosis of blastomycosis. Conclusion Blastomycosis was not listed as 1 of 3 primary diagnoses in a majority of cases when Wisconsin primary care physicians considered case vignettes of actual pulmonary blastomycosis cases. Diagnosis was more accurate if the patient vignette listed exposure to a higher incidence county, or if the physician practiced in a higher incidence county. In Wisconsin, failure to include blastomycosis in the differential diagnoses of illnesses associated with a wide variety of pulmonary symptoms suspected to represent infectious or non-infectious pulmonary, cardiac, or neoplastic disease, regardless of geographic exposure, could result in excess morbidity or mortality. PMID:21560560

First International External Quality Assessment Study on Molecular and Serological Methods for Yellow Fever Diagnosis

PubMed Central

Domingo, Cristina; Escadafal, Camille; Rumer, Leonid; Méndez, Jairo A.; García, Paquita; Sall, Amadou A.; Teichmann, Anette; Donoso-Mantke, Oliver; Niedrig, Matthias

2012-01-01

Objective We describe an external quality assurance (EQA) study designed to assess the efficiency and accurateness of molecular and serological methods used by expert laboratories performing YF diagnosis. Study Design For molecular diagnosis evaluation, a panel was prepared of 14 human plasma samples containing specific RNA of different YFV strains (YFV-17D, YFV South American strain [Brazil], YFV IvoryC1999 strain), and specificity samples containing other flaviviruses and negative controls. For the serological panel, 13 human plasma samples with anti-YFV-specific antibodies against different strains of YFV (YFV-17D strain, YFV IvoryC1999 strain, and YFV Brazilian strain), as well as specificity and negative controls, were included. Results Thirty-six laboratories from Europe, the Americas, Middle East, and Africa participated in these EQA activities. Only 16% of the analyses reported met all evaluation criteria with optimal performance. Serial dilutions of YFV-17D showed that in general the methodologies reported provided a suitable sensitivity. Failures were mainly due to the inability to detect wild-type strains or the presence of false positives. Performance in the serological diagnosis varied, mainly depending on the methodology used. Anti-YFV IgM detection was not performed in 16% of the reports using IIF or ELISA techniques, although it is preferable for the diagnosis of YFV acute infections. A good sensitivity profile was achieved in general; however, in the detection of IgM antibodies a lack of sensitivity of anti-YFV antibodies against the vaccine strain 17D was observed, and of the anti-YFV IgG antibodies against a West African strain. Neutralization assays showed a very good performance; however, the unexpected presence of false positives underlined the need of improving the running protocols. Conclusion This EQA provides information on each laboratory's efficacy of RT-PCR and serological YFV diagnosis techniques. The results indicate the need for improving serological and molecular diagnosis techniques and provide a follow-up of the diagnostic profiles. PMID:22570700

First international external quality assessment study on molecular and serological methods for yellow fever diagnosis.

PubMed

Domingo, Cristina; Escadafal, Camille; Rumer, Leonid; Méndez, Jairo A; García, Paquita; Sall, Amadou A; Teichmann, Anette; Donoso-Mantke, Oliver; Niedrig, Matthias

2012-01-01

We describe an external quality assurance (EQA) study designed to assess the efficiency and accurateness of molecular and serological methods used by expert laboratories performing YF diagnosis. For molecular diagnosis evaluation, a panel was prepared of 14 human plasma samples containing specific RNA of different YFV strains (YFV-17D, YFV South American strain [Brazil], YFV IvoryC1999 strain), and specificity samples containing other flaviviruses and negative controls. For the serological panel, 13 human plasma samples with anti-YFV-specific antibodies against different strains of YFV (YFV-17D strain, YFV IvoryC1999 strain, and YFV Brazilian strain), as well as specificity and negative controls, were included. Thirty-six laboratories from Europe, the Americas, Middle East, and Africa participated in these EQA activities. Only 16% of the analyses reported met all evaluation criteria with optimal performance. Serial dilutions of YFV-17D showed that in general the methodologies reported provided a suitable sensitivity. Failures were mainly due to the inability to detect wild-type strains or the presence of false positives. Performance in the serological diagnosis varied, mainly depending on the methodology used. Anti-YFV IgM detection was not performed in 16% of the reports using IIF or ELISA techniques, although it is preferable for the diagnosis of YFV acute infections. A good sensitivity profile was achieved in general; however, in the detection of IgM antibodies a lack of sensitivity of anti-YFV antibodies against the vaccine strain 17D was observed, and of the anti-YFV IgG antibodies against a West African strain. Neutralization assays showed a very good performance; however, the unexpected presence of false positives underlined the need of improving the running protocols. This EQA provides information on each laboratory's efficacy of RT-PCR and serological YFV diagnosis techniques. The results indicate the need for improving serological and molecular diagnosis techniques and provide a follow-up of the diagnostic profiles.

Value of counting positive PHH3 cells in the diagnosis of uterine smooth muscle tumors

PubMed Central

Pang, Shu-Jie; Li, Cheng-Cheng; Shen, Yan; Liu, Yian-Zhu; Shi, Yi-Quan; Liu, Yi-Xin

2015-01-01

The diagnosis of uterine smooth muscle tumors including leiomyosarcomas (LMS), smooth muscle tumors of uncertain malignant potential (STUMP), bizarre (atypical) leiomyoma (BLM), mitotically active leiomyoma (MAL) and leiomyoma (LM) depends on a combination of microscopic features, such as mitoses, cytologic atypia, and coagulative tumor cell necrosis. However, a small number of these tumors still pose difficult diagnostic challenges. The assessment of accurate mitotic figures (MF) is one of the major parameters in the proper classification of uterine smooth muscle tumors. This assessment can be hampered by the presence of increased number of apoptotic bodies or pyknotic nuclei, which frequently mimic mitoses. Phospho-histone H3 (PHH3) is a recently described immunomarker specific for cells undergoing mitoses. In our study, we collected 132 cases of uterine smooth muscle tumors, including 26 LMSs, 16 STUMPs, 30 BLMs, 30 MALs and 30 LMs. We used mitosis specific marker PHH3 to count mitotic indexes (MI) of uterine smooth muscle tumors and compared with the mitotic indexes of hematoxylin and eosin (H&E). There is a positive correlation with the number of mitotic figures in H&E-stained sections and PHH3-stained sections (r=0.944, P<0.05). The ratio of PHH3-MI to H&E-MI has no statistically significant difference in each group except for LMs (P>0.05). The counting value of PHH3 in LMSs have significantly higher than STUMPs, BLMs, MALs and LMs (P<0.001) and the counting value of PHH3 is 1.5±0.5 times of the number of mitotic indexes in H&E. To conclude, our results show that counting PHH3 is a useful index in the diagnosis of uterine smooth muscle tumors and it can provide a more accurate index instead of the time-honored mitotic figure counts at a certain ratio. PMID:26191133

Acro-Dermato-Ungual-Lacrimal-Tooth Syndrome: An Uncommon Member of the Ectodermal Dysplasias.

PubMed

Whittington, Adam; Stein, Sarah; Kenner-Bell, Brandi

2016-09-01

Acro-dermato-ungual-lacrimal-tooth (ADULT) syndrome is a rare form of autosomal dominant ectodermal dysplasia due to mutations in the TP63 gene, a locus that has also been implicated in other syndromic forms of ectodermal dysplasia. It shares many phenotypic characteristics with other TP63 gene mutation syndromes, often making an accurate diagnosis difficult. Long-term management and follow-up of the various sequelae of ectodermal dysplasia require an accurate diagnosis. We report a familial case of ADULT syndrome in a daughter, mother, and son and provide a brief review of the clinical characteristics of this syndrome. © 2016 Wiley Periodicals, Inc.

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. Reprint & Copyright © 2017 Association of Military Surgeons of the U.S.

Are clinical impressions of adolescent substance use accurate?

PubMed

Wilson, Celeste R; Sherritt, Lon; Gates, Erin; Knight, John R

2004-11-01

To compare providers' impressions of adolescents' level of substance use with diagnostic classifications from a structured diagnostic interview. Secondary analysis of data was conducted from a validation study of the CRAFFT substance abuse screening test of 14- to 18-year-old medical clinic patients (n = 533) and their corresponding medical care providers (n = 109) at an adolescent clinic affiliated with a large tertiary care pediatric hospital. Medical care providers completed a form that recorded their clinical impressions of patients' level of alcohol and drug involvement (none, minimal, problem, abuse, dependence) and demographic characteristics. The form included brief diagnostic descriptions for each level of use. After the medical visit, patients completed the Adolescent Diagnostic Interview (ADI), a structured diagnostic interview that yields diagnoses of abuse and dependence according to the Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition (DSM-IV). On the basis of their past 12 months of alcohol and drug use on the ADI interview, adolescents were classified into 5 mutually exclusive diagnostic groups. "None" was defined by no reported use of alcohol or drugs during the past year. "Minimal use" was defined as use of alcohol or drugs but no report of any substance-related problems. "Problem use" was defined as reporting 1 or more substance-related problems but no diagnosis of abuse or dependence. "Abuse" was defined by meeting any 1 of 4 DSM-IV diagnostic criteria for either alcohol or drug abuse but no diagnosis of dependence. "Dependence" was defined by meeting any 3 of 7 diagnostic criteria for either alcohol or drug dependence, with or without a diagnosis of abuse. Proportions were compared using Fisher exact test. Agreement was assessed with the weighted kappa, and these analyses were stratified by substance used (ie, alcohol vs drug) and demographic characteristics. Sensitivity, specificity, and positive and negative predictive values were calculated from 2 x 2 tables. Compared with the criterion standard interview, providers identified significantly fewer patients with problem use and abuse and no patients with dependence. Of >100 patients whom the ADI classified with substance problem use, providers correctly identified 18. Of 50 patients who were classified with a diagnosis of alcohol or drug abuse, providers correctly identified 10. Of 36 patients who were classified with a diagnosis of alcohol or drug dependence, providers correctly identified none. For the 86 adolescents who were classified with a substance-related disorder (ie, abuse or dependence), providers' impressions were "none" (24.4%), "minimal use" (50%), "problem use" (15.1%), "abuse" (10.5%), and "dependence" (0%). There was only marginal agreement between providers' impressions and diagnoses related to alcohol use (kappa = .29), drug use (kappa = .31), and any substance use (kappa = .30). Kappa was not significantly affected by the patient's age, but it was by gender. Among boys, kappa was significantly higher for impressions of drug use versus alcohol use (kappa = .48 vs kappa = .27); and, among drug users, kappa was significantly higher among boys compared with girls (kappa = .48 vs kappa = .24). Kappa did not differ significantly across race/ethnicity subgroups, although there is a suggestive trend toward higher agreement for black non-Hispanic compared with white non-Hispanic adolescents (kappa = .35 vs kappa = .21). Kappa did not differ significantly on the basis of the visit type, but the size of this difference (kappa = .36 vs kappa = .24) suggests that the longer well-child visit yielded greater identification of substance-related pathology. Providers' impressions had a sensitivity of .63 for identifying use of alcohol or drugs. However, sensitivity was poor for identification of problem use (.14), abuse (.10), and dependence (0), whereas specificity and positive predictive values were high. Of the 86 adolescents with a diagnosis of abuse or dependence, 75.6% were correctly identified by providers as using substances; however, the level of use in 50% of these adolescents was reported by providers as minimal. In this study, clinical impressions of adolescents' alcohol/drug involvement underestimated substance-related pathology. When providers thought that use was present, there was a very high likelihood that a problem or disorder existed. The use of structured screening devices would likely improve identification of adolescents with substance-related pathology in primary care settings and should be considered for use with all adolescent patients, rather than only those who are perceived to be at higher risk.

Cytopathology in the post mortem room.

PubMed Central

Walker, E; Going, J J

1994-01-01

AIM--To demonstrate the role of cytopathology in examining tumours found at post mortem examination. METHODS--Tumour deposits were found in 25 hospital necropsies. Cytological diagnosis made at the time of necropsy was compared with subsequent paraffin wax embedded histological sections. RESULTS--In 19 out of 20 cases with no previous histological diagnosis, cytology at the time of necropsy provided rapid and accurate assessment of tumour type. Subsequent histological examination of formalin fixed material merely refined the diagnosis in some cases. In the remaining five cases in which tumour type was known, cytological examination of deposits found at necropsy provided extra information that was useful for compiling a provisional report. CONCLUSIONS--Rapid cytological examination of tumours found during post mortem examinations provides accurate relevant information which can be used to produce a more comprehensive provisional necropsy report. The technique has advantages over frozen section histology and can provide useful cytological experience for histopathology trainees. Images PMID:7962623

Raman spectroscopy of blood serum for Alzheimer's disease diagnostics: specificity relative to other types of dementia

PubMed Central

Ryzhikova, Elena; Kazakov, Oleksandr; Halamkova, Lenka; Celmins, Dzintra; Malone, Paula; Molho, Eric; Zimmerman, Earl A.; Lednev, Igor K.

2015-01-01

The key moment for efficiently and accurately diagnosing dementia occurs during the early stages. This is particularly true for Alzheimer's disease (AD). In this proof-of-concept study, we applied near infrared (NIR) Raman microspectroscopy of blood serum together with advanced multivariate statistics for the selective identification of AD. We analyzed data from 20 AD patients, 18 patients with other neurodegenerative dementias (OD) and 10 healthy control (HC) subjects. NIR Raman microspectroscopy differentiated patients with more than 95% sensitivity and specificity. We demonstrated the high discriminative power of artificial neural network (ANN) classification models, thus revealing the high potential of this developed methodology for the differential diagnosis of AD. Raman spectroscopic, blood-based tests may aid clinical assessments for the effective and accurate differential diagnosis of AD, decrease the labor, time and cost of diagnosis, and be useful for screening patient populations for AD development and progression. PMID:25256347

Ultrasound and Perforated Viscus; Dirty Fluid, Dirty Shadows, and Peritoneal Enhancement.

PubMed

Shokoohi, Hamid; S Boniface, Keith; M Abell, Bruce; Pourmand, Ali; Salimian, Mohammad

2016-01-01

Early detection of free air in the peritoneal cavity is vital in diagnosis of life-threatening emergencies, and can play a significant role in expediting treatment. We present a series of cases in which bedside ultrasound (US) in the emergency department accurately identified evidence of free intra-peritoneal air and echogenic (dirty) free fluid consistent with a surgical final diagnosis of a perforated hollow viscus. In all patients with suspected perforated viscus, clinicians were able to accurately identify the signs of pneumoperitoneum including enhanced peritoneal stripe sign (EPSS), peritoneal stripe reverberations, and focal air collections associated with dirty shadowing or distal multiple reflections as ring down artifacts. In all cases, hollow viscus perforation was confirmed surgically. It seems that, performing US in patients with suspected perforated viscus can accurately identify presence of intra-peritoneal echogenic or "dirty" free fluid as well as evidence of free air, and may expedite patient management.

Depth-sensitive optical spectroscopy for layered tissue measurements (Conference Presentation)

NASA Astrophysics Data System (ADS)

Liu, Wei; Yu, Xiaojun; Liu, Quan; Liu, Linbo; Ong, Yi Hong

2017-02-01

Disease diagnosis based on the visual inspection of the pathological presentations or symptoms on the epithelial tissue such as the skin are subjective and highly depend on the experience of the doctors. Vital diagnostic information for the accurate identification of diseases is usually located underneath the surface and its depth distribution is known to be related to disease progression. Although optical spectroscopic measurements are fast and non-invasive, the accurate retrieval of the depth-specific diagnostic information is complicated by the heterogeneous nature of epithelial tissues. The optical signal measured from a tissue is often the result of averaging from a large tissue volume that mixes information from the region of interest and the surrounding tissue region, especially from the overlaying layers. Our group has developed a series of techniques for depth sensitive optical measurements from such layered tissues. We will first review the earlier development of composite fiber-optic probe, in which the source-detector separation and the angles of source and detector fibers are varied to achieve depth sensitive measurements. Then the more recent development of non-contact axicon lens based probes for depth sensitive fluorescence measurements and the corresponding numerical methods for optimization will be introduced. Finally, the most recently developed snapshot axicon lens based probe that can measure Raman spectra from five different depths at the same time will be discussed. Results from tissue phantoms, ex vivo pork samples and in vivo fingernail measurements will be presented, which indicates the great potential of depth sensitive optical spectroscopy for clinical tissue diagnosis.

Accurate and robust genomic prediction of celiac disease using statistical learning.

PubMed

Abraham, Gad; Tye-Din, Jason A; Bhalala, Oneil G; Kowalczyk, Adam; Zobel, Justin; Inouye, Michael

2014-02-01

Practical application of genomic-based risk stratification to clinical diagnosis is appealing yet performance varies widely depending on the disease and genomic risk score (GRS) method. Celiac disease (CD), a common immune-mediated illness, is strongly genetically determined and requires specific HLA haplotypes. HLA testing can exclude diagnosis but has low specificity, providing little information suitable for clinical risk stratification. Using six European cohorts, we provide a proof-of-concept that statistical learning approaches which simultaneously model all SNPs can generate robust and highly accurate predictive models of CD based on genome-wide SNP profiles. The high predictive capacity replicated both in cross-validation within each cohort (AUC of 0.87-0.89) and in independent replication across cohorts (AUC of 0.86-0.9), despite differences in ethnicity. The models explained 30-35% of disease variance and up to ∼43% of heritability. The GRS's utility was assessed in different clinically relevant settings. Comparable to HLA typing, the GRS can be used to identify individuals without CD with ≥99.6% negative predictive value however, unlike HLA typing, fine-scale stratification of individuals into categories of higher-risk for CD can identify those that would benefit from more invasive and costly definitive testing. The GRS is flexible and its performance can be adapted to the clinical situation by adjusting the threshold cut-off. Despite explaining a minority of disease heritability, our findings indicate a genomic risk score provides clinically relevant information to improve upon current diagnostic pathways for CD and support further studies evaluating the clinical utility of this approach in CD and other complex diseases.

Potential benefit of a simultaneous, side-by-side display of contrast MDCT and echocardiography over routine sequential imaging for assessment of adult congenital heart disease: A preliminary study.

PubMed

Oe, Hiroki; Watanabe, Nobuhisa; Miyoshi, Toru; Osawa, Kazuhiro; Akagi, Teiji; Kanazawa, Susumu; Ito, Hiroshi

2018-06-18

Management of adult congenital heart disease (ACHD) patients requires understanding of its complex morphology and functional features. An innovative imaging technique has been developed to display a virtual multi-planar reconstruction obtained from contrast-enhanced multidetector-computed tomography (MDCT) corresponding to the same cross-sectional image from transthoracic echocardiography (TTE). The aim of this study is to assess the usefulness of this imaging technology in ACHD patients. This study consisted of 46 consecutive patients (30 women; mean age, 52±18 years old) with ACHD who had undergone contrast MDCT. All patients underwent TTE within a week of MDCT. An experienced sonographer who did not know the results of MDCT conducted a diagnosis using TTE and, then, using the new imaging technology. We studied whether this imaging technology provided additional or unexpected findings or makes more accurate diagnosis. In this imaging technology, MDCT cross-section provides higher-resolution image to the deep compared to corresponding TTE image. Depending on the MDCT section which can be arbitrarily set under the echo guide, we can diagnose unexpected or incremental lesions or more accurately assess the severity of the lesion in 27 patients (59%) compared to TTE study alone. This imaging technology was useful in the following situations: CONCLUSIONS: This integrated imaging technology provides incremental role over TTE in complex anatomy, and allows functional information in ACHD patients. Copyright © 2018 Japanese College of Cardiology. Published by Elsevier Ltd. All rights reserved.

Early-Onset Psychosis in Youth with Intellectual Disability

ERIC Educational Resources Information Center

Friedlander, R. I.; Donnelly, T.

2004-01-01

Accurate diagnosis of psychotic disorders may be very difficult in youth with intellectual disabilities. The authors reviewed the assessment, treatment and follow-up of 21 youths with ID referred because of early onset of psychotic symptoms. Just over one half of the patients had a diagnosis of schizophrenia or schizo-affective disorder. One third…

Special Education Financing and ADHD Medications: A Bitter Pill to Swallow

ERIC Educational Resources Information Center

Morrill, Melinda Sandler

2018-01-01

Accurate diagnosis of attention deficit/hyperactivity disorder (ADHD) in children is difficult because the major symptoms, inattentiveness and hyperactivity, can be exhibited by any child. This study finds evidence of systematic differences in diagnosis and treatment of ADHD due to third party financial incentives. In some states, due to the…

Diagnosis and Disengagement: Exploring the Disjuncture between SEN Policy and Practice

ERIC Educational Resources Information Center

McKay, Jane; Neal, Jayne

2009-01-01

Special Educational Needs (SEN) policy and practice in England and Wales currently relies on an authoritative and accurate diagnosis of need by professionals working in partnership with parents and children. Our analysis suggests there is a "continuum of disengagement" for children and young people with SEN. This will be used as a…

Use of nested PCR to detect Ceratocystis fagacearum in sapwood of diseased northern oak species

USDA-ARS?s Scientific Manuscript database

Early and accurate diagnosis of oak wilt, caused by Ceratocystis fagacearum (Cf), is important when disease control action is planned. When laboratory diagnosis is needed, standard isolation protocols that are used rely on high quality samples and require > 14 days for incubation. Use of a nested P...

Popular or Unpopular? Therapists' Use of Structured Interviews and Their Estimation of Patient Acceptance

ERIC Educational Resources Information Center

Bruchmuller, Katrin; Margraf, Jurgen; Suppiger, Andrea; Schneider, Silvia

2011-01-01

An accurate diagnosis is an important precondition for effective psychotherapeutic treatment. The use of structured interviews provides the gold standard for reliable diagnosis. Suppiger et al. (2009) showed that structured interviews have a high acceptance among patients. On a scale from 0 ("not at all satisfied") to 100 ("totally…

Biomarkers identified by urinary metabonomics for noninvasive diagnosis of nutritional rickets.

PubMed

Wang, Maoqing; Yang, Xue; Ren, Lihong; Li, Songtao; He, Xuan; Wu, Xiaoyan; Liu, Tingting; Lin, Liqun; Li, Ying; Sun, Changhao

2014-09-05

Nutritional rickets is a worldwide public health problem; however, the current diagnostic methods retain shortcomings for accurate diagnosis of nutritional rickets. To identify urinary biomarkers associated with nutritional rickets and establish a noninvasive diagnosis method, urinary metabonomics analysis by ultra-performance liquid chromatography/quadrupole time-of-flight tandem mass spectrometry and multivariate statistical analysis were employed to investigate the metabolic alterations associated with nutritional rickets in 200 children with or without nutritional rickets. The pathophysiological changes and pathogenesis of nutritional rickets were illustrated by the identified biomarkers. By urinary metabolic profiling, 31 biomarkers of nutritional rickets were identified and five candidate biomarkers for clinical diagnosis were screened and identified by quantitative analysis and receiver operating curve analysis. Urinary levels of five candidate biomarkers were measured using mass spectrometry or commercial kits. In the validation step, the combination of phosphate and sebacic acid was able to give a noninvasive and accurate diagnostic with high sensitivity (94.0%) and specificity (71.2%). Furthermore, on the basis of the pathway analysis of biomarkers, our urinary metabonomics analysis gives new insight into the pathogenesis and pathophysiology of nutritional rickets.

Diagnostic accuracy of tuberculous lymphadenitis fine needle aspiration biopsy confirmed by PCR as gold standard

NASA Astrophysics Data System (ADS)

DSuryadi; Delyuzar; Soekimin

2018-03-01

Indonesia is the second country with the TB (tuberculosis) burden in the world. Improvement in controlling TB and reducing the complications can accelerate early diagnosis and correct treatment. PCR test is a gold standard. However, it is quite expensive for routine diagnosis. Therefore, an accurate and cheaper diagnostic method such as fine needle aspiration biopsy is needed. The study aimsto determine the accuracy of fine needle aspiration biopsy cytology in the diagnosis of tuberculous lymphadenitis. A cross-sectional analytic study was conducted to the samples from patients suspected with tuberculous lymphadenitis. The fine needle aspiration biopsy (FNAB)test was performed and confirmed by PCR test.There is a comparison to the sensitivity, specificity, accuracy, positive predictive value and negative predictive value of both methods. Sensitivity (92.50%), specificity (96.49%), accuracy (94.85%), positive predictive value (94.87%) and negative predictive value (94.83%) were in FNAB test compared to gold standard. We concluded that fine needle aspiration biopsy is a recommendation for a cheaper and accurate diagnostic test for tuberculous lymphadenitis diagnosis.

A dynamic integrated fault diagnosis method for power transformers.

PubMed

Gao, Wensheng; Bai, Cuifen; Liu, Tong

2015-01-01

In order to diagnose transformer fault efficiently and accurately, a dynamic integrated fault diagnosis method based on Bayesian network is proposed in this paper. First, an integrated fault diagnosis model is established based on the causal relationship among abnormal working conditions, failure modes, and failure symptoms of transformers, aimed at obtaining the most possible failure mode. And then considering the evidence input into the diagnosis model is gradually acquired and the fault diagnosis process in reality is multistep, a dynamic fault diagnosis mechanism is proposed based on the integrated fault diagnosis model. Different from the existing one-step diagnosis mechanism, it includes a multistep evidence-selection process, which gives the most effective diagnostic test to be performed in next step. Therefore, it can reduce unnecessary diagnostic tests and improve the accuracy and efficiency of diagnosis. Finally, the dynamic integrated fault diagnosis method is applied to actual cases, and the validity of this method is verified.

A Dynamic Integrated Fault Diagnosis Method for Power Transformers

PubMed Central

Gao, Wensheng; Liu, Tong

2015-01-01

In order to diagnose transformer fault efficiently and accurately, a dynamic integrated fault diagnosis method based on Bayesian network is proposed in this paper. First, an integrated fault diagnosis model is established based on the causal relationship among abnormal working conditions, failure modes, and failure symptoms of transformers, aimed at obtaining the most possible failure mode. And then considering the evidence input into the diagnosis model is gradually acquired and the fault diagnosis process in reality is multistep, a dynamic fault diagnosis mechanism is proposed based on the integrated fault diagnosis model. Different from the existing one-step diagnosis mechanism, it includes a multistep evidence-selection process, which gives the most effective diagnostic test to be performed in next step. Therefore, it can reduce unnecessary diagnostic tests and improve the accuracy and efficiency of diagnosis. Finally, the dynamic integrated fault diagnosis method is applied to actual cases, and the validity of this method is verified. PMID:25685841

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. Copyright © 2014 Elsevier B.V. All rights reserved.

Experiences of prenatal diagnosis and decision-making about termination of pregnancy: A qualitative study.

PubMed

Hodgson, Jan; Pitt, Penelope; Metcalfe, Sylvia; Halliday, Jane; Menezes, Melody; Fisher, Jane; Hickerton, Chriselle; Petersen, Kerry; McClaren, Belinda

2016-12-01

Advances in genetic technologies and ultrasound screening techniques have increased the ability to predict and diagnose congenital anomalies during pregnancy. As a result more prospective parents than ever before will receive a prenatal diagnosis of a fetal abnormality. Little is known about how Australian women and men experience receiving a prenatal diagnosis and how they make their decision about whether or not to continue the pregnancy. This qualitative study aims to describe parental experiences and examine how best to provide support after a prenatal diagnosis. Individual in-depth interviews were conducted with 102 women and men approximately six weeks post-diagnosis of fetal abnormality. Data were elicited using a narrative, chronological approach and women (n = 75) and a sample of male partners (n = 27) were separately interviewed. Thematic analysis, involving a rigorous process of qualitative coding, enabled iterative development and validation of emergent themes. Participants identified that the shock of the diagnosis can be lessened when good care is delivered, by provision of: clear, accurate and respectful communication; empathic, non-judgemental, professional support; timely access to further testing and appointments; seamless interactions with services and administration; appropriate choices about invasive testing; acknowledgment of the enormity and unexpected nature of the diagnosis, and of the subsequent decision-making challenges; and discussion of the myriad feelings likely to emerge throughout the process. This study has demonstrated the importance of providing timely access to accurate information and supportive, non-judgemental care for women and their partners following prenatal diagnosis of a fetal abnormality. © 2016 The Royal Australian and New Zealand College of Obstetricians and Gynaecologists.

Development of a validated algorithm for the diagnosis of paediatric asthma in electronic medical records

PubMed Central

Cave, Andrew J; Davey, Christina; Ahmadi, Elaheh; Drummond, Neil; Fuentes, Sonia; Kazemi-Bajestani, Seyyed Mohammad Reza; Sharpe, Heather; Taylor, Matt

2016-01-01

An accurate estimation of the prevalence of paediatric asthma in Alberta and elsewhere is hampered by uncertainty regarding disease definition and diagnosis. Electronic medical records (EMRs) provide a rich source of clinical data from primary-care practices that can be used in better understanding the occurrence of the disease. The Canadian Primary Care Sentinel Surveillance Network (CPCSSN) database includes cleaned data extracted from the EMRs of primary-care practitioners. The purpose of the study was to develop and validate a case definition of asthma in children 1–17 who consult family physicians, in order to provide primary-care estimates of childhood asthma in Alberta as accurately as possible. The validation involved the comparison of the application of a theoretical algorithm (to identify patients with asthma) to a physician review of records included in the CPCSSN database (to confirm an accurate diagnosis). The comparison yielded 87.4% sensitivity, 98.6% specificity and a positive and negative predictive value of 91.2% and 97.9%, respectively, in the age group 1–17 years. The algorithm was also run for ages 3–17 and 6–17 years, and was found to have comparable statistical values. Overall, the case definition and algorithm yielded strong sensitivity and specificity metrics and was found valid for use in research in CPCSSN primary-care practices. The use of the validated asthma algorithm may improve insight into the prevalence, diagnosis, and management of paediatric asthma in Alberta and Canada. PMID:27882997

Development of a validated algorithm for the diagnosis of paediatric asthma in electronic medical records.

PubMed

Cave, Andrew J; Davey, Christina; Ahmadi, Elaheh; Drummond, Neil; Fuentes, Sonia; Kazemi-Bajestani, Seyyed Mohammad Reza; Sharpe, Heather; Taylor, Matt

2016-11-24

An accurate estimation of the prevalence of paediatric asthma in Alberta and elsewhere is hampered by uncertainty regarding disease definition and diagnosis. Electronic medical records (EMRs) provide a rich source of clinical data from primary-care practices that can be used in better understanding the occurrence of the disease. The Canadian Primary Care Sentinel Surveillance Network (CPCSSN) database includes cleaned data extracted from the EMRs of primary-care practitioners. The purpose of the study was to develop and validate a case definition of asthma in children 1-17 who consult family physicians, in order to provide primary-care estimates of childhood asthma in Alberta as accurately as possible. The validation involved the comparison of the application of a theoretical algorithm (to identify patients with asthma) to a physician review of records included in the CPCSSN database (to confirm an accurate diagnosis). The comparison yielded 87.4% sensitivity, 98.6% specificity and a positive and negative predictive value of 91.2% and 97.9%, respectively, in the age group 1-17 years. The algorithm was also run for ages 3-17 and 6-17 years, and was found to have comparable statistical values. Overall, the case definition and algorithm yielded strong sensitivity and specificity metrics and was found valid for use in research in CPCSSN primary-care practices. The use of the validated asthma algorithm may improve insight into the prevalence, diagnosis, and management of paediatric asthma in Alberta and Canada.

Neuropsychological Test Selection for Cognitive Impairment Classification: A Machine Learning Approach

PubMed Central

Williams, Jennifer A.; Schmitter-Edgecombe, Maureen; Cook, Diane J.

2016-01-01

Introduction Reducing the amount of testing required to accurately detect cognitive impairment is clinically relevant. The aim of this research was to determine the fewest number of clinical measures required to accurately classify participants as healthy older adult, mild cognitive impairment (MCI) or dementia using a suite of classification techniques. Methods Two variable selection machine learning models (i.e., naive Bayes, decision tree), a logistic regression, and two participant datasets (i.e., clinical diagnosis, clinical dementia rating; CDR) were explored. Participants classified using clinical diagnosis criteria included 52 individuals with dementia, 97 with MCI, and 161 cognitively healthy older adults. Participants classified using CDR included 154 individuals CDR = 0, 93 individuals with CDR = 0.5, and 25 individuals with CDR = 1.0+. Twenty-seven demographic, psychological, and neuropsychological variables were available for variable selection. Results No significant difference was observed between naive Bayes, decision tree, and logistic regression models for classification of both clinical diagnosis and CDR datasets. Participant classification (70.0 – 99.1%), geometric mean (60.9 – 98.1%), sensitivity (44.2 – 100%), and specificity (52.7 – 100%) were generally satisfactory. Unsurprisingly, the MCI/CDR = 0.5 participant group was the most challenging to classify. Through variable selection only 2 – 9 variables were required for classification and varied between datasets in a clinically meaningful way. Conclusions The current study results reveal that machine learning techniques can accurately classifying cognitive impairment and reduce the number of measures required for diagnosis. PMID:26332171

Improved multimodal biomarkers for Alzheimer's disease and mild cognitive impairment diagnosis: data from ADNI

NASA Astrophysics Data System (ADS)

Martinez-Torteya, Antonio; Treviño-Alvarado, Víctor; Tamez-Peña, José

2013-02-01

The accurate diagnosis of Alzheimer's disease (AD) and mild cognitive impairment (MCI) confers many clinical research and patient care benefits. Studies have shown that multimodal biomarkers provide better diagnosis accuracy of AD and MCI than unimodal biomarkers, but their construction has been based on traditional statistical approaches. The objective of this work was the creation of accurate AD and MCI diagnostic multimodal biomarkers using advanced bioinformatics tools. The biomarkers were created by exploring multimodal combinations of features using machine learning techniques. Data was obtained from the ADNI database. The baseline information (e.g. MRI analyses, PET analyses and laboratory essays) from AD, MCI and healthy control (HC) subjects with available diagnosis up to June 2012 was mined for case/controls candidates. The data mining yielded 47 HC, 83 MCI and 43 AD subjects for biomarker creation. Each subject was characterized by at least 980 ADNI features. A genetic algorithm feature selection strategy was used to obtain compact and accurate cross-validated nearest centroid biomarkers. The biomarkers achieved training classification accuracies of 0.983, 0.871 and 0.917 for HC vs. AD, HC vs. MCI and MCI vs. AD respectively. The constructed biomarkers were relatively compact: from 5 to 11 features. Those multimodal biomarkers included several widely accepted univariate biomarkers and novel image and biochemical features. Multimodal biomarkers constructed from previously and non-previously AD associated features showed improved diagnostic performance when compared to those based solely on previously AD associated features.

Intestinal Parasite Infections and Accuracy of Direct Thin and Thick Smear, Formol-Ether Sedimentation, Centrifugal Flotation, and Mini-FLOTAC Techniques Among Patients with Gastrointestinal Tract Disorders from the Greater Cairo Region, Egypt

PubMed Central

Hussein, Atef H.; Rashed, Samia M.; El-Hayawan, Ibrahim A.; Aly, Nagwa S. M.; Abou Ouf, Eman A.; Ali, Amira T.

2017-01-01

The aim of the present study was to assess the frequency of intestinal parasitic infection among patients with gastrointestinal tract disorders from the Greater Cairo region, Egypt. In addition, a comparison was made of the accuracy of direct thin and thick smear, formol-ether sedimentation (FEC), centrifugal flotation (CF), and mini-FLOTAC techniques in the diagnosis of infection. Out of 100 patients, the overall prevalence of parasitic infection was 51%. Only 6% had dual infection. Giardia lamblia was the most common parasite (26%), followed by Hymenolepis nana (20%), Entamoeba coli (8%), and Enterobius vermicularis (3%). Except the statistically significant association between E. vermicularis infection and perianal itching and insomnia (P < 0.001), age, gender, and complaints of the examined individuals had no association with prevalence of parasitic infection. Both FEC and CF were equally the most accurate techniques (accuracy = 98.2%, confidence interval [CI] = 0.95–1.0, and κ index = 0.962), whereas the Kato-Katz method was the least accurate (accuracy = 67.5%, CI = 0.57–0.78, and κ index = 0.333). However, mini-FLOTAC-ZnSO4 was the most accurate for diagnosis of helminthic infection, and FEC was more accurate for diagnosis of protozoal infection (accuracy = 100%, CI = 1.0–1.0, and κ index = 1). PMID:28093543

Misdiagnosis of narcolepsy.

PubMed

Dunne, Laura; Patel, Pallavi; Maschauer, Emily L; Morrison, Ian; Riha, Renata L

2016-12-01

Narcolepsy is a chronic primary sleep disorder, characterized by excessive daytime sleepiness and sleep dysfunction with or without cataplexy. Narcolepsy is uncommon, with a low prevalence rate which makes it difficult to diagnose definitively without a complex series of tests and a detailed history. The aim of this study was to review patients referred to a tertiary sleep centre who had been labelled with a diagnosis of narcolepsy prior to referral in order to assess if the diagnosis was accurate, and if not, to determine the cause of diagnostic misattribution. All patients seen at a sleep centre from 2007-2013 (n = 551) who underwent detailed objective testing including an MSLT PSG, as well as wearing an actigraphy watch and completing a sleep diary for 2 weeks, were assessed for a pre-referral and final diagnosis of narcolepsy. Of the 41 directly referred patients with a diagnostic label of narcolepsy, 19 (46 %) were subsequently confirmed to have narcolepsy on objective testing and assessment by a sleep physician using ICSD-2 criteria. The diagnosis of narcolepsy was incorrectly attributed to almost 50 % of patients labelled with a diagnosis of narcolepsy who were referred for further opinion by a variety of specialists and generalists. Accurate diagnosis of narcolepsy is critical for many reasons, such as the impact it has on quality of life, driving, employment, insurance and pregnancy in women as well as medication management.

Automated database-guided expert-supervised orientation for immunophenotypic diagnosis and classification of acute leukemia

PubMed Central

Lhermitte, L; Mejstrikova, E; van der Sluijs-Gelling, A J; Grigore, G E; Sedek, L; Bras, A E; Gaipa, G; Sobral da Costa, E; Novakova, M; Sonneveld, E; Buracchi, C; de Sá Bacelar, T; te Marvelde, J G; Trinquand, A; Asnafi, V; Szczepanski, T; Matarraz, S; Lopez, A; Vidriales, B; Bulsa, J; Hrusak, O; Kalina, T; Lecrevisse, Q; Martin Ayuso, M; Brüggemann, M; Verde, J; Fernandez, P; Burgos, L; Paiva, B; Pedreira, C E; van Dongen, J J M; Orfao, A; van der Velden, V H J

2018-01-01

Precise classification of acute leukemia (AL) is crucial for adequate treatment. EuroFlow has previously designed an AL orientation tube (ALOT) to guide towards the relevant classification panel (T-cell acute lymphoblastic leukemia (T-ALL), B-cell precursor (BCP)-ALL and/or acute myeloid leukemia (AML)) and final diagnosis. Now we built a reference database with 656 typical AL samples (145 T-ALL, 377 BCP-ALL, 134 AML), processed and analyzed via standardized protocols. Using principal component analysis (PCA)-based plots and automated classification algorithms for direct comparison of single-cells from individual patients against the database, another 783 cases were subsequently evaluated. Depending on the database-guided results, patients were categorized as: (i) typical T, B or Myeloid without or; (ii) with a transitional component to another lineage; (iii) atypical; or (iv) mixed-lineage. Using this automated algorithm, in 781/783 cases (99.7%) the right panel was selected, and data comparable to the final WHO-diagnosis was already provided in >93% of cases (85% T-ALL, 97% BCP-ALL, 95% AML and 87% mixed-phenotype AL patients), even without data on the full-characterization panels. Our results show that database-guided analysis facilitates standardized interpretation of ALOT results and allows accurate selection of the relevant classification panels, hence providing a solid basis for designing future WHO AL classifications. PMID:29089646

Cystic echinococcosis: A neglected disease at usual and unusual locations.

PubMed

Sarkar, Soma; Roy, Himansu; Saha, Puranjay; Sengupta, Mallika; Sarder, Krisnendu; Sengupta, Manideepa

2017-01-01

Echinococcus granulosus causes a zoonotic infection called cystic echinococcosis (CE) or more commonly known as hydatid disease. Although the two most common locations of hydatid cyst are liver and lung, it may also appear in other parts of the body. Clinical presentation of the hydatid disease depends on the site and size of the lesion. A retrospective study was done in Medical College and Hospital, Kolkata, from January 2012 to June 2014, to find the site of involvement, distribution, clinical features, history of contact, mode of presentation, laboratory diagnosis, and treatment modalities of the cases of hydatid cyst. The cases were identified by radiological and laboratory methods, the data were entered in Excel spreadsheet, and analysis was done. Among the 21 cases of hydatid cyst included in the study, solitary hepatic involvement was seen in 11 (52.38%), pulmonary involvement in 4 (19%), and 6 (28.71%) were in unusual locations such as liver cyst extending as retroperitoneal, omental cyst, choledochal cyst, splenic cyst, and in hepatorenal pouch. History of contact with dog was seen in 15 (71.43%). All the patients were treated with surgery and albendazole and were discharged in healthy condition. CE may be present in usual and unusual locations with a lot of variations in the clinical features. Hence, proper radiological and laboratory diagnosis is required for accurate diagnosis and appropriate management of these cases.

Soft-Tissue Infections and Their Imaging Mimics: From Cellulitis to Necrotizing Fasciitis.

PubMed

Hayeri, Mohammad Reza; Ziai, Pouya; Shehata, Monda L; Teytelboym, Oleg M; Huang, Brady K

2016-10-01

Infection of the musculoskeletal system can be associated with high mortality and morbidity if not promptly and accurately diagnosed. These infections are generally diagnosed and managed clinically; however, clinical and laboratory findings sometimes lack sensitivity and specificity, and a definite diagnosis may not be possible. In uncertain situations, imaging is frequently performed to confirm the diagnosis, evaluate the extent of the disease, and aid in treatment planning. In particular, cross-sectional imaging, including computed tomography and magnetic resonance imaging, provides detailed anatomic information in the evaluation of soft tissues due to their inherent high spatial and contrast resolution. Imaging findings of soft-tissue infections can be nonspecific and can have different appearances depending on the depth and anatomic extent of tissue involvement. Although many imaging features of infectious disease can overlap with noninfectious processes, imaging can help establish the diagnosis when combined with the clinical history and laboratory findings. Radiologists should be familiar with the spectrum of imaging findings of soft-tissue infections to better aid the referring physician in managing these patients. The aim of this article is to review the spectrum of soft-tissue infections using a systematic anatomic compartment approach. We discuss the clinical features of soft-tissue infections, their imaging findings with emphasis on cross-sectional imaging, their potential mimics, and clinical management. © RSNA, 2016.

DNA "nano-claw": logic-based autonomous cancer targeting and therapy.

PubMed

You, Mingxu; Peng, Lu; Shao, Na; Zhang, Liqin; Qiu, Liping; Cui, Cheng; Tan, Weihong

2014-01-29

Cell types, both healthy and diseased, can be classified by inventories of their cell-surface markers. Programmable analysis of multiple markers would enable clinicians to develop a comprehensive disease profile, leading to more accurate diagnosis and intervention. As a first step to accomplish this, we have designed a DNA-based device, called "Nano-Claw". Combining the special structure-switching properties of DNA aptamers with toehold-mediated strand displacement reactions, this claw is capable of performing autonomous logic-based analysis of multiple cancer cell-surface markers and, in response, producing a diagnostic signal and/or targeted photodynamic therapy. We anticipate that this design can be widely applied in facilitating basic biomedical research, accurate disease diagnosis, and effective therapy.

Thiamine deficiency in childhood with attention to genetic causes: Survival and outcome predictors.

PubMed

Ortigoza-Escobar, Juan Darío; Alfadhel, Majid; Molero-Luis, Marta; Darin, Niklas; Spiegel, Ronen; de Coo, Irenaeus F; Gerards, Mike; Taylor, Robert W; Artuch, Rafael; Nashabat, Marwan; Rodríguez-Pombo, Pilar; Tabarki, Brahim; Pérez-Dueñas, Belén

2017-09-01

Primary and secondary conditions leading to thiamine deficiency have overlapping features in children, presenting with acute episodes of encephalopathy, bilateral symmetric brain lesions, and high excretion of organic acids that are specific of thiamine-dependent mitochondrial enzymes, mainly lactate, alpha-ketoglutarate, and branched chain keto-acids. Undiagnosed and untreated thiamine deficiencies are often fatal or lead to severe sequelae. Herein, we describe the clinical and genetic characterization of 79 patients with inherited thiamine defects causing encephalopathy in childhood, identifying outcome predictors in patients with pathogenic SLC19A3 variants, the most common genetic etiology. We propose diagnostic criteria that will aid clinicians to establish a faster and accurate diagnosis so that early vitamin supplementation is considered. Ann Neurol 2017;82:317-330. © 2017 American Neurological Association.

Anismus: the cause of constipation? Results of investigation and treatment.

PubMed

Duthie, G S; Bartolo, D C

1992-01-01

Anismus, or failure of the somatic sphincter apparatus to relax at defecation, has been implicated as a major contributor to the problem of obstructed defecation. Current diagnostic methods depend on laboratory measurements of attempted defecation and the most complex, dynamic proctography has been the mainstay of diagnosis. Using a new computerized ambulatory method of recording sphincter function in these patients at home, we report an 80% reduction in our diagnostic rate suggesting that conventional tests fail to accurately diagnose this condition, probably because they poorly represent the natural physiology of defecation. Treatment of this distressing condition is more complex and a variety of surgical and pharmacological measures have failed. Biofeedback retraining of anorectal function of these patients has been very successful and represents the management of choice.

State of Charge estimation of lithium ion battery based on extended Kalman filtering algorithm

NASA Astrophysics Data System (ADS)

Yang, Fan; Feng, Yiming; Pan, Binbiao; Wan, Renzhuo; Wang, Jun

2017-08-01

Accurate estimation of state-of-charge (SOC) for lithium ion battery is crucial for real-time diagnosis and prognosis in green energy vehicles. In this paper, a state space model of the battery based on Thevenin model is adopted. The strategy of estimating state of charge (SOC) based on extended Kalman fil-ter is presented, as well as to combine with ampere-hour counting (AH) and open circuit voltage (OCV) methods. The comparison between simulation and experiments indicates that the model’s performance matches well with that of lithium ion battery. The algorithm of extended Kalman filter keeps a good accura-cy precision and less dependent on its initial value in full range of SOC, which is proved to be suitable for online SOC estimation.

The contribution of an asthma diagnostic consultation service in obtaining an accurate asthma diagnosis for primary care patients: results of a real-life study.

PubMed

Gillis, R M E; van Litsenburg, W; van Balkom, R H; Muris, J W; Smeenk, F W

2017-05-19

Previous studies showed that general practitioners have problems in diagnosing asthma accurately, resulting in both under and overdiagnosis. To support general practitioners in their diagnostic process, an asthma diagnostic consultation service was set up. We evaluated the performance of this asthma diagnostic consultation service by analysing the (dis)concordance between the general practitioners working hypotheses and the asthma diagnostic consultation service diagnoses and possible consequences this had on the patients' pharmacotherapy. In total 659 patients were included in this study. At this service the patients' medical history was taken and a physical examination and a histamine challenge test were carried out. We compared the general practitioners working hypotheses with the asthma diagnostic consultation service diagnoses and the change in medication that was incurred. In 52% (n = 340) an asthma diagnosis was excluded. The diagnosis was confirmed in 42% (n = 275). Furthermore, chronic rhinitis was diagnosed in 40% (n = 261) of the patients whereas this was noted in 25% (n = 163) by their general practitioner. The adjusted diagnosis resulted in a change of medication for more than half of all patients. In 10% (n = 63) medication was started because of a new asthma diagnosis. The 'one-stop-shop' principle was met with 53% of patients and 91% (n = 599) were referred back to their general practitioner, mostly within 6 months. Only 6% (n = 41) remained under control of the asthma diagnostic consultation service because of severe unstable asthma. In conclusion, the asthma diagnostic consultation service helped general practitioners significantly in setting accurate diagnoses for their patients with an asthma hypothesis. This may contribute to diminish the problem of over and underdiagnosis and may result in more appropriate treatment regimens. SERVICE HELPS GENERAL PRACTITIONERS MAKE ACCURATE DIAGNOSES: A consultation service can help general practitioners more accurately diagnose asthma and select the appropriate treatments for their patients. Researchers in The Netherlands, led by Frank Smeenk from Catharina Hospital in Eindhoven, describe an asthma diagnostic consultation service they created to support GPs in their diagnostic process for patients suspected of having asthma. Over a four-year period, the service received a total of 659 referrals and only confirmed the diagnosis of asthma in 275 cases. Another 20 patients had asthma overlapping with chronic obstructive pulmonary syndrome. The service also picked up other diseases, such as rhinitis, that general practitioners had missed. Overall, because of the consultation service and its revised diagnoses, more than half of all patients adjusted their medications. Most patients required only a single consultation and could then be referred back to their physicians.

A multiplex serologic platform for diagnosis of tick-borne diseases.

PubMed

Tokarz, Rafal; Mishra, Nischay; Tagliafierro, Teresa; Sameroff, Stephen; Caciula, Adrian; Chauhan, Lokendrasingh; Patel, Jigar; Sullivan, Eric; Gucwa, Azad; Fallon, Brian; Golightly, Marc; Molins, Claudia; Schriefer, Martin; Marques, Adriana; Briese, Thomas; Lipkin, W Ian

2018-02-16

Tick-borne diseases are the most common vector-borne diseases in the United States, with serology being the primary method of diagnosis. We developed the first multiplex, array-based assay for serodiagnosis of tick-borne diseases called the TBD-Serochip. The TBD-Serochip was designed to discriminate antibody responses to 8 major tick-borne pathogens present in the United States, including Anaplasma phagocytophilum, Babesia microti, Borrelia burgdorferi, Borrelia miyamotoi, Ehrlichia chaffeensis, Rickettsia rickettsii, Heartland virus and Powassan virus. Each assay contains approximately 170,000 12-mer linear peptides that tile along the protein sequence of the major antigens from each agent with 11 amino acid overlap. This permits accurate identification of a wide range of specific immunodominant IgG and IgM epitopes that can then be used to enhance diagnostic accuracy and integrate differential diagnosis into a single assay. To test the performance of the TBD-Serochip, we examined sera from patients with confirmed Lyme disease, babesiosis, anaplasmosis, and Powassan virus disease. We identified a wide range of specific discriminatory epitopes that facilitated accurate diagnosis of each disease. We also identified previously undiagnosed infections. Our results indicate that the TBD-Serochip is a promising tool for a differential diagnosis not available with currently employed serologic assays for TBDs.

'Peripheric' pancreatic cysts: performance of CT scan, MRI and endoscopy according to final pathological examination.

PubMed

Duconseil, P; Turrini, O; Ewald, J; Soussan, J; Sarran, A; Gasmi, M; Moutardier, V; Delpero, J R

2015-06-01

To assess the accuracy of pre-operative staging in patients with peripheral pancreatic cystic neoplasms (pPCNs). From 2005 to 2011, 148 patients underwent a pancreatectomy for pPCNs. The pre-operative examination methods of computed tomography (CT), magnetic resonance imaging (MRI), endoscopic ultrasonography (EUS) were compared for their ability to predict the suggested diagnosis accurately, and the definitive diagnosis was affirmed by pathological examination. A mural nodule was detected in 34 patients (23%): only 1 patient (3%) had an invasive pPCN at the final histological examination. A biopsy was performed in 79 patients (53%) during EUS: in 55 patients (70%), the biopsy could not conclude a diagnosis; the biopsy provided the correct and wrong diagnosis in 19 patients (24%) and 5 patients (6%), respectively. A correct diagnosis was affirmed by CT, EUS and pancreatic MRI in 60 (41%), 103 (74%) and 80 (86%) patients (when comparing EUS and MRI; P = 0.03), respectively. The positive predictive values (PPVs) of CT, EUS and MRI were 70%, 75% and 87%, respectively. Pancreatic MRI appears to be the most appropriate examination to diagnose pPCNs accurately. EUS alone had a poor PPV. Mural nodules in a PCN should not be considered an indisputable sign of pPCN invasiveness. © 2015 International Hepato-Pancreato-Biliary Association.

Comparison of radiography and ultrasonography for diagnosing small-intestinal mechanical obstruction in vomiting dogs.

PubMed

Sharma, Ajay; Thompson, Margret S; Scrivani, Peter V; Dykes, Nathan L; Yeager, Amy E; Freer, Sean R; Erb, Hollis N

2011-01-01

A cross-sectional study was performed on acutely vomiting dogs to compare the accuracy of radiography and ultrasonography for the diagnosis of small-intestinal mechanical obstruction and to describe several radiographic and ultrasonographic signs to identify their contribution to the final diagnosis. The sample population consisted of 82 adult dogs and small-intestinal obstruction by foreign body was confirmed in 27/82 (33%) dogs by surgery or necropsy. Radiography produced a definitive result (obstructed or not obstructed) in 58/82 (70%) of dogs; ultrasonography produced a definitive result in 80/82 (97%) of dogs. On radiographs, a diagnosis of obstruction was based on detection of segmental small-intestinal dilatation, plication, or detection of a foreign body. Approximately 30% (8/27) of obstructed dogs did not have radiographic signs of segmental small-intestinal dilatation, of which 50% (4/8) were due to linear foreign bodies. The ultrasonographic diagnosis of small-intestinal obstruction was based on detection of an obstructive lesion, sonographic signs of plication or segmental, small-intestinal dilatation. The ultrasonographic presence or absence of moderate-to-severe intestinal diameter enlargement (due to lumen dilatation) of the jejunum (>1.5 cm) was a useful discriminatory finding and, when present, should prompt a thorough search for a cause of small-intestinal obstruction. In conclusion, both abdominal radiography and abdominal ultrasonography are accurate for diagnosing small-intestinal obstruction in vomiting dogs and either may be used depending on availability and examiner choice. Abdominal ultrasonography had greater accuracy, fewer equivocal results and provided greater diagnostic confidence compared with radiography. © 2010 Veterinary Radiology & Ultrasound.

Intelligence system based classification approach for medical disease diagnosis

NASA Astrophysics Data System (ADS)

Sagir, Abdu Masanawa; Sathasivam, Saratha

2017-08-01

The prediction of breast cancer in women who have no signs or symptoms of the disease as well as survivability after undergone certain surgery has been a challenging problem for medical researchers. The decision about presence or absence of diseases depends on the physician's intuition, experience and skill for comparing current indicators with previous one than on knowledge rich data hidden in a database. This measure is a very crucial and challenging task. The goal is to predict patient condition by using an adaptive neuro fuzzy inference system (ANFIS) pre-processed by grid partitioning. To achieve an accurate diagnosis at this complex stage of symptom analysis, the physician may need efficient diagnosis system. A framework describes methodology for designing and evaluation of classification performances of two discrete ANFIS systems of hybrid learning algorithms least square estimates with Modified Levenberg-Marquardt and Gradient descent algorithms that can be used by physicians to accelerate diagnosis process. The proposed method's performance was evaluated based on training and test datasets with mammographic mass and Haberman's survival Datasets obtained from benchmarked datasets of University of California at Irvine's (UCI) machine learning repository. The robustness of the performance measuring total accuracy, sensitivity and specificity is examined. In comparison, the proposed method achieves superior performance when compared to conventional ANFIS based gradient descent algorithm and some related existing methods. The software used for the implementation is MATLAB R2014a (version 8.3) and executed in PC Intel Pentium IV E7400 processor with 2.80 GHz speed and 2.0 GB of RAM.

Iron Overload and Chelation Therapy in Non-Transfusion Dependent Thalassemia

PubMed Central

Bou-Fakhredin, Rayan; Bazarbachi, Abdul-Hamid; Chaya, Bachar; Sleiman, Joseph; Cappellini, Maria Domenica; Taher, Ali T.

2017-01-01

Iron overload (IOL) due to increased intestinal iron absorption constitutes a major clinical problem in patients with non-transfusion-dependent thalassemia (NTDT), which is a cumulative process with advancing age. Current models for iron metabolism in patients with NTDT suggest that suppression of serum hepcidin leads to an increase in iron absorption and subsequent release of iron from the reticuloendothelial system, leading to depletion of macrophage iron, relatively low levels of serum ferritin, and liver iron loading. The consequences of IOL in patients with NTDT are multiple and multifactorial. Accurate and reliable methods of diagnosis and monitoring of body iron levels are essential, and the method of choice for measuring iron accumulation will depend on the patient’s needs and on the available facilities. Iron chelation therapy (ICT) remains the backbone of NTDT management and is one of the most effective and practical ways of decreasing morbidity and mortality. The aim of this review is to describe the mechanism of IOL in NTDT, and the clinical complications that can develop as a result, in addition to the current and future therapeutic options available for the management of IOL in NTDT. PMID:29261151

Validating the BASC-TRS for Use with Children and Adolescents with an Educational Diagnosis of Autism

ERIC Educational Resources Information Center

Hass, Michael R.; Brown, Richard S.; Brady, John; Johnson, Danielle Boehm

2012-01-01

Accurate diagnosis and treatment planning for children with autism are a growing concern. This study sought to address two questions: (a) Which domains of the of the "Behavior Assessment System for Children" (2nd ed.) Teacher Rating Scales (BASC-TRS) are most effective in discriminating students diagnosed with higher functioning autism…

If You Listen, the Patient Will Tell You the Diagnosis

ERIC Educational Resources Information Center

Holmes, Frederick

2007-01-01

Since the time of Hippocrates, professors in medical schools have been telling their students to listen to patients. Medical students and young doctors all come to realize that the medical history, the patient's account of his or her own illness, is the best source of information with which to make an accurate diagnosis. The physical examination,…

Cushing syndrome: update on testing.

PubMed

Raff, Hershel

2015-03-01

Endogenous hypercortisolism (Cushing syndrome) is one of the most enigmatic diseases in clinical medicine. The diagnosis and differential diagnosis of Cushing syndrome depend on proper laboratory evaluation. In this review, an update is provided on selected critical issues in the diagnosis and differential diagnosis of Cushing syndrome: the use of late-night salivary cortisol in initial diagnosis and for postoperative surveillance, and the use of prolactin measurement to improve the performance of inferior petrosal sinus sampling to distinguish Cushing disease from ectopic adrenocorticotropic hormone (ACTH) syndrome during differential diagnosis of ACTH-dependent Cushing syndrome. Copyright © 2015 Elsevier Inc. All rights reserved.

Using an Educational Electronic Documentation System to Help Nursing Students Accurately Identify Nursing Diagnoses

ERIC Educational Resources Information Center

Pobocik, Tamara J.

2013-01-01

The use of technology and electronic medical records in healthcare has exponentially increased. This quantitative research project used a pretest/posttest design, and reviewed how an educational electronic documentation system helped nursing students to identify the accurate related to statement of the nursing diagnosis for the patient in the case…

Malignant granular cell tumors: the role of electron microscopy in the definitive diagnosis of an extremely aggressive soft tissue neoplasm.

PubMed

Knowles, Kurt J; Al-Delfi, Firas; Abdulsattar, Jehan; Lacour, Robin; Black, Destin; Chaudhery, Shabnum; Turbat-Herrera, Elba A

2018-01-01

Granular cell tumors (GCTs) are rare soft tissue neoplasms which may be multicentric. The vast majority are benign, however approximately 100 malignant GCTs have been reported, with only 8 originating in the vulva. Malignant GCTs are very aggressive with very poor survival rates. As the diagnosis of malignant GCT carries an extremely poor prognosis, the utilization of EM ensures that the most accurate diagnosis possible can be rendered.

Osteoid osteoma of the scaphoid: magnetic resonance imaging vessel sign.

PubMed

Kussman, Steven R; Thompson, Michael; Chang, Eric Y

2015-01-01

Osteoid osteomas can be a challenging diagnosis, especially in smaller bones and, particularly, in the carpus. Clinical and imaging diagnosis may both be delayed due to other, more common, post-traumatic or inflammatory pathology in the same area. We present a case of a pathologically proven scaphoid osteoid osteoma with a feeding vessel sign on magnetic resonance imaging, previously described in long bones with computed tomography, as a helpful sign for accurate diagnosis in the scaphoid. Copyright © 2015 Elsevier Inc. All rights reserved.

THE DIFFERENTIAL DIAGNOSIS OF NON-SPECIFIC PARAESTHESIA ABOUT THE WRIST OR HAND USING A FLOW CHART

PubMed Central

Reggars, John W.

1993-01-01

A common clinical presentation in the Chiropractor's office is that of vague and unilateral paraesthesia of the wrist or hand. Often the patient is unable to identify any definite dermatomal pattern and in such cases an accurate diagnosis becomes somewhat difficult. The following paper, incorporating a flow chart, provides the clinician with a logical sequence for the clinical exam in an attempt to arrive at the correct diagnosis, particularly those with mechanical causes. PMID:17989743

A Clinical Approach to Vulvar Ulcers.

PubMed

Stewart, Kristen M A

2017-09-01

This article discusses the differential diagnosis of vulvar ulcers and describes a general clinical approach to this common but nonspecific examination finding. The differential diagnosis includes sexually and nonsexually transmitted infections, dermatitides, trauma, neoplasms, hormonally induced ulcers, and drug reactions. Patient history and physical examination provide important clues to the cause of a vulvar ulcer. However, laboratory testing is usually required for accurate diagnosis because the clinical presentation is often nonspecific and may be atypical due to secondary conditions. Copyright © 2017 Elsevier Inc. All rights reserved.

Quantification of pulmonary vessel diameter in low-dose CT images

NASA Astrophysics Data System (ADS)

Rudyanto, Rina D.; Ortiz de Solórzano, Carlos; Muñoz-Barrutia, Arrate

2015-03-01

Accurate quantification of vessel diameter in low-dose Computer Tomography (CT) images is important to study pulmonary diseases, in particular for the diagnosis of vascular diseases and the characterization of morphological vascular remodeling in Chronic Obstructive Pulmonary Disease (COPD). In this study, we objectively compare several vessel diameter estimation methods using a physical phantom. Five solid tubes of differing diameters (from 0.898 to 3.980 mm) were embedded in foam, simulating vessels in the lungs. To measure the diameters, we first extracted the vessels using either of two approaches: vessel enhancement using multi-scale Hessian matrix computation, or explicitly segmenting them using intensity threshold. We implemented six methods to quantify the diameter: three estimating diameter as a function of scale used to calculate the Hessian matrix; two calculating equivalent diameter from the crosssection area obtained by thresholding the intensity and vesselness response, respectively; and finally, estimating the diameter of the object using the Full Width Half Maximum (FWHM). We find that the accuracy of frequently used methods estimating vessel diameter from the multi-scale vesselness filter depends on the range and the number of scales used. Moreover, these methods still yield a significant error margin on the challenging estimation of the smallest diameter (on the order or below the size of the CT point spread function). Obviously, the performance of the thresholding-based methods depends on the value of the threshold. Finally, we observe that a simple adaptive thresholding approach can achieve a robust and accurate estimation of the smallest vessels diameter.

Urinary PCR as an increasingly useful tool for an accurate diagnosis of leptospirosis in livestock.

PubMed

Hamond, C; Martins, G; Loureiro, A P; Pestana, C; Lawson-Ferreira, R; Medeiros, M A; Lilenbaum, W

2014-03-01

The aim of the present study was to consider the wide usage of urinary PCR as an increasingly useful tool for an accurate diagnosis of leptospirosis in livestock. A total of 512 adult animals (300 cattle, 138 horses, 59 goats and 15 pigs), from herds/flocks with reproductive problems in Rio de Janeiro, Brazil was studied by serology and urinary PCR. From the 512 serum samples tested, 223 (43.5 %) were seroreactive (cattle: 45.6 %, horses: 41.3 %, goats: 34%and pigs: 60 %). PCR detected leptospiral DNA in 32.4 % (cattle: 21.6 %, horses: 36.2 %, goats: 77.4 % and pigs: 33.3 %. To our knowledge there is no another study including such a large number of samples (512) from different species, providing a comprehensive analysis of the usage of PCR for detecting leptospiral carriers in livestock. Serological and molecular results were discrepant, regardless the titre, what was an expected outcome. Nevertheless, it is impossible to establish agreement between these tests, since the two methodologies are conducted on different samples (MAT - serum; PCR - urine). Additionally, the MAT is an indirect method and PCR is a direct one. In conclusion, we have demonstrated that urinary PCR should be considered and encouraged as an increasingly useful tool for an accurate diagnosis of leptospirosis in livestock.

Biomarkers in rheumatic diseases: how can they facilitate diagnosis and assessment of disease activity?

PubMed

Mohan, Chandra; Assassi, Shervin

2015-11-26

Serological and proteomic biomarkers can help clinicians diagnose rheumatic diseases earlier and assess disease activity more accurately. These markers have been incorporated into the recently revised classification criteria of several diseases to enable early diagnosis and timely initiation of treatment. Furthermore, they also facilitate more accurate subclassification and more focused monitoring for the detection of certain disease manifestations, such as lung and renal involvement. These biomarkers can also make the assessment of disease activity and treatment response more reliable. Simultaneously, several new serological and proteomic biomarkers have become available in the routine clinical setting--for example, a protein biomarker panel for rheumatoid arthritis and a myositis antibody panel for dermatomyositis and polymyositis. This review will focus on commercially available antibody and proteomic biomarkers in rheumatoid arthritis, systemic lupus erythematosus, systemic sclerosis (scleroderma), dermatomyositis and polymyositis, and axial spondyloarthritis (including ankylosing spondylitis). It will discuss how these markers can facilitate early diagnosis as well as more accurate subclassification and assessment of disease activity in the clinical setting. The ultimate goal of current and future biomarkers in rheumatic diseases is to enable early detection of these diseases and their clinical manifestations, and to provide effective monitoring and treatment regimens that are tailored to each patient's needs and prognosis. © BMJ Publishing Group Ltd 2015.

Cutaneous melanoma: digital dermoscopy -essential tool for positive diagnosis

PubMed Central

Simionescu, Olga; Costache, Mariana; Testori, Alessandro

2006-01-01

Cutaneous melanoma is a “perfid”, aggressive and hard to be treated malignant tumor in case of delayed diagnosis. However, patients still have a chance to escape progressive disease if the lesion is recognized early, when the surgical approach is curative. Dermoscopy has the important advantage of rapidity and non-invasivity in a field with (still) contradictory algorithms of diagnosis and treatment. The recognition of the elementary dermoscopic lesions enables accurate diagnosis for cutaneous melanoma. In our opinion, dermoscopy appears compulsory in the routine derma-tologic examination. In vivo microscopy (dermoscopy) together with histopathology (plus or minus immunohisto-chemistry) seem, at present, to provide the most reliable diagnosis of melanoma. PMID:17125600

Next-generation sequencing-based molecular diagnosis of a Chinese patient cohort with autosomal recessive retinitis pigmentosa.

PubMed

Fu, Qing; Wang, Feng; Wang, Hui; Xu, Fei; Zaneveld, Jacques E; Ren, Huanan; Keser, Vafa; Lopez, Irma; Tuan, Han-Fang; Salvo, Jason S; Wang, Xia; Zhao, Li; Wang, Keqing; Li, Yumei; Koenekoop, Robert K; Chen, Rui; Sui, Ruifang

2013-06-14

Retinitis pigmentosa (RP) is a highly heterogeneous genetic disease; therefore, an accurate molecular diagnosis is essential for appropriate disease treatment and family planning. The prevalence of RP in China had been reported at 1 in 3800, resulting in an estimated total of 340,000 Chinese RP patients. However, genetic studies of Chinese RP patients have been very limited. To date, no comprehensive molecular diagnosis has been done for Chinese RP patients. With the emergence of next-generation sequencing (NGS), comprehensive molecular diagnosis of RP is now within reach. The purpose of this study was to perform the first NGS-based comprehensive molecular diagnosis for Chinese RP patients. Thirty-one well-characterized autosomal recessive RP (arRP) families were recruited. For each family, the DNA sample from one affected member was sequenced using our custom capture panel, which includes 163 retinal disease genes. Variants were called, filtered, and annotated by our in-house automatic pipeline. Twelve arRP families were successfully molecular diagnosed, achieving a diagnostic rate of approximately 40%. Interestingly, approximately 63% of the pathogenic mutations we identified are novel, which is higher than that observed in a similar study on European descent (45%). Moreover, the clinical diagnoses of two families were refined based on the pathogenic mutations identified in the patients. We conclude that comprehensive molecular diagnosis can be vital for an accurate clinical diagnosis of RP. Applying this tool on patients from different ethnic groups is essential for enhancing our knowledge of the global spectrum of RP disease-causing mutations.

18F-fluorodeoxyglucose positron emission tomography/computed tomography enables the detection of recurrent same-site deep vein thrombosis by illuminating recently formed, neutrophil-rich thrombus.

PubMed

Hara, Tetsuya; Truelove, Jessica; Tawakol, Ahmed; Wojtkiewicz, Gregory R; Hucker, William J; MacNabb, Megan H; Brownell, Anna-Liisa; Jokivarsi, Kimmo; Kessinger, Chase W; Jaff, Michael R; Henke, Peter K; Weissleder, Ralph; Jaffer, Farouc A

2014-09-23

Accurate detection of recurrent same-site deep vein thrombosis (DVT) is a challenging clinical problem. Because DVT formation and resolution are associated with a preponderance of inflammatory cells, we investigated whether noninvasive (18)F-fluorodeoxyglucose (FDG)-positron emission tomography (PET) imaging could identify inflamed, recently formed thrombi and thereby improve the diagnosis of recurrent DVT. We established a stasis-induced DVT model in murine jugular veins and also a novel model of recurrent stasis DVT in mice. C57BL/6 mice (n=35) underwent ligation of the jugular vein to induce stasis DVT. FDG-PET/computed tomography (CT) was performed at DVT time points of day 2, 4, 7, 14, or 2+16 (same-site recurrent DVT at day 2 overlying a primary DVT at day 16). Antibody-based neutrophil depletion was performed in a subset of mice before DVT formation and FDG-PET/CT. In a clinical study, 38 patients with lower extremity DVT or controls undergoing FDG-PET were analyzed. Stasis DVT demonstrated that the highest FDG signal occurred at day 2, followed by a time-dependent decrease (P<0.05). Histological analyses demonstrated that thrombus neutrophils (P<0.01), but not macrophages, correlated with thrombus PET signal intensity. Neutrophil depletion decreased FDG signals in day 2 DVT in comparison with controls (P=0.03). Recurrent DVT demonstrated significantly higher FDG uptake than organized day 14 DVT (P=0.03). The FDG DVT signal in patients also exhibited a time-dependent decrease (P<0.01). Noninvasive FDG-PET/CT identifies neutrophil-dependent thrombus inflammation in murine DVT, and demonstrates a time-dependent signal decrease in both murine and clinical DVT. FDG-PET/CT may offer a molecular imaging strategy to accurately diagnose recurrent DVT. © 2014 American Heart Association, Inc.

Co-circulation of multiple hemorrhagic fever diseases with distinct clinical characteristics in Dandong, China.

PubMed

Chen, Zhi-Hai; Qin, Xin-Cheng; Song, Rui; Shen, Yi; Chen, Xiao-Ping; Wang, Wen; Zhao, Yong-Xiang; Zhang, Jing-Shan; He, Jin-Rong; Li, Ming-Hui; Zhao, Xue-Hua; Liu, De-Wei; Fu, Xiao-Kang; Tian, Di; Li, Xing-Wang; Xu, Jianguo; Plyusnin, Alexander; Holmes, Edward C; Zhang, Yong-Zhen

2014-01-01

Hemorrhagic fevers (HF) caused by viruses and bacteria are a major public health problem in China and characterized by variable clinical manifestations, such that it is often difficult to achieve accurate diagnosis and treatment. The causes of HF in 85 patients admitted to Dandong hospital, China, between 2011-2012 were determined by serological and PCR tests. Of these, 34 patients were diagnosed with Huaiyangshan hemorrhagic fever (HYSHF), 34 with Hemorrhagic Fever with Renal Syndrome (HFRS), one with murine typhus, and one with scrub typhus. Etiologic agents could not be determined in the 15 remaining patients. Phylogenetic analyses of recovered bacterial and viral sequences revealed that the causative infectious agents were closely related to those described in other geographical regions. As these diseases have no distinctive clinical features in their early stage, only 13 patients were initially accurately diagnosed. The distinctive clinical features of HFRS and HYSHF developed during disease progression. Enlarged lymph nodes, cough, sputum, and diarrhea were more common in HYSHF patients, while more HFRS cases presented with headache, sore throat, oliguria, percussion pain kidney area, and petechiae. Additionally, HYSHF patients displayed significantly lower levels of white blood cells (WBC), higher levels of creations kinase (CK) and alanine aminotransferase (ALT), while HFRS patients presented with an elevation of blood urea nitrogen (BUN) and creatinine (CREA). These clinical features will assist in the accurate diagnosis of both HYSHF and HFRS. Overall, our data reveal the complexity of pathogens causing HFs in a single Chinese hospital, and highlight the need for accurate early diagnosis and a better understanding of their distinctive clinical features.

Comparison of the accuracy of trans-abdominal sonography (TAS) and transperineal sonography (TPS) in the diagnosis of Placenta Praevia.

PubMed

Adeyomoye, A A O; Ola, E R; Arogundade, R A; Awosanya, G O G; Abudu, O O

2006-03-01

Although the incidence of Placenta Praevia (PP) is low, its association with increased perinatal and maternal morbidity and mortality underscores the imperative of accurate pre-labour diagnosis. To compare through a prospective study, the accuracy, sensitivity and specificity of Trans-Abdominal Sonography (TAS) and Trans-Perineal Sonography (TPS) in the diagnosis of Placenta Praevia and to determine the causes, if any, of avoidable diagnostic errors. During the study period from 1999 to 2001, 133 patients were evaluated by TAS and TPS. The age ranged from 19-41 years while the gestational age ranged from 20-weeks to term. All had examination with 3.5 MHz mechanical sector real-time scanner (Siemens high-resolution Sonoline SL-1 ultrasound machine). The accuracy of TAS and TPS in diagnosing PP was then compared with surgical outcome in each patient. Out of the 133 patients diagnosed to have PP early on in pregnancy, 41 (30.8%) had persistent praevia till delivery, while in 92 (69.2%), the placenta converted to a normal location. The diagnosis at delivery confirmed the TPS diagnosis in 40 of 41 cases, while TAS diagnosis was confirmed in 39 of 41. TPS did not predict the delivery diagnosis in 1 patient where it ruled out a PP, TAS did not predict the delivery diagnosis in 2 patients who were believed not to have a clinically significant placenta praevia. In 1 patient TAS suggested PP but delivery diagnosis showed a normal placental implantation. The overall accuracy, specificity and sensitivity for TPS and TAS were 99.3%, 100%, 99.2% and 97.7%, 98.9%, and 95.1% respectively. TPS is a safe, accurate and rapid technique, which complement TAS for evaluation of patients with PP. In patients who decline this method however, graded bladder distension, Trendelenburg and traction scanning and determination of the absence of focal uterine contraction, which distorts the lower uterine segment, are techniques, which significantly improve the diagnosis of PP by TAS.

F-18 fluoride positron emission tomography/computed tomography in the diagnosis of avascular necrosis of the femoral head: Comparison with magnetic resonance imaging

PubMed Central

Gayana, Shankaramurthy; Bhattacharya, Anish; Sen, Ramesh Kumar; Singh, Paramjeet; Prakash, Mahesh; Mittal, Bhagwant Rai

2016-01-01

Objective: Femoral head avascular necrosis (FHAVN) is one of the increasingly common causes of musculoskeletal disability and poses a major diagnostic and therapeutic challenge. Although radiography, scintigraphy, computed tomography (CT), and magnetic resonance imaging (MRI) have been widely used in the diagnosis of FHAVN, positron emission tomography (PET) has recently been evaluated to assess vascularity of the femoral head. In this study, the authors compared F-18 fluoride PET/CT with MRI in the initial diagnosis of FHAVN. Patients and Methods: We prospectively studied 51 consecutive patients with a high clinical suspicion of FHAVN. All patients underwent MRI and F-18 fluoride PET/CT, the time interval between the two scans being 4–10 (mean 8) days. Two nuclear medicine physicians blinded to the MRI report read the PET/CT scans. Clinical assessment was also done. Final diagnoses were made by surgical pathology or clinical and radiologic follow-up. Results: A final diagnosis of avascular necrosis (AVN) was made in 40 patients. MRI was 96.5% sensitive, 100% specific, and 98.03% accurate while PET/CT was 100% sensitive, specific, and accurate in diagnosing FHAVN. The agreement between the two imaging modalities for the diagnosis of AVN was 96.07%. Conclusion: F-18 fluoride PET/CT showed good agreement with MRI in the initial diagnosis of FHAVN and can be better than MRI in detecting early disease. PMID:26917886

Prenatal and accurate perinatal diagnosis of type 2 H or ductular duplicate gallbladder.

PubMed

Maggi, Umberto; Farris, Giorgio; Carnevali, Alessandra; Borzani, Irene; Clerici, Paola; Agosti, Massimo; Rossi, Giorgio; Leva, Ernesto

2018-02-07

Double gallbladder is a rare biliary anomaly. Perinatal diagnosis of the disorder has been reported in only 6 cases, and in 5 of them the diagnosis was based on ultrasound imaging only. However, the ultrasound technique alone does not provide a sufficiently precise description of cystic ducts and biliary anatomy, an information that is crucial for a correct classification and for a possible future surgery. At 21 weeks of gestational age of an uneventful pregnancy in a 38 year old primipara mother, a routine ultrasound screening detected a biliary anomaly in the fetus suggestive of a double gallbladder. A neonatal abdominal ultrasonography performed on postnatal day 2 confirmed the diagnosis. On day 12 the newborn underwent a Magnetic Resonance Cholangiopancreatography (MRCP) that clearly characterized the anatomy of the anomaly: both gallbladders had their own cystic duct and both had a separate insertion in the main biliary duct. We report a case of early prenatal suspected duplicate gallbladder that was confirmed by a neonatal precise diagnosis of a Type 2, H or ductular duplicate gallbladder, using for the first time 3D images of Magnetic resonance cholangiopancreatography in a newborn. An accurate anatomical diagnosis is mandatory in patients undergoing a possible future cholecystectomy, to avoid surgical complications or reoperations. Therefore, in case of a perinatal suspicion of a double gallbladder, neonates should undergo a Magnetic resonance cholangiopancreatography. A review of the Literature about this variant is included.

Idiopathic Subareolar Breast Abscess in a Male Patient

PubMed Central

Ranga, Upasana; Veeraiyan, Saveetha

2015-01-01

We present a case of left breast abscess in a young male patient who presented with acute onset swelling left breast. Imaging studies helped in accurate diagnosis and the case was managed by subareolar incision and drainage. Subareolar breast abscess is an uncommon entity in male and should be kept as a differential diagnosis for male breast swellings. PMID:25738061

Rapid Diagnosis of Histoplasma capsulatum Endocarditis Using the AccuProbe on an Excised Valve

PubMed Central

Chemaly, Roy F.; Tomford, J. Walton; Hall, Gerri S.; Sholtis, Mary; Chua, Jimmy D.; Procop, Gary W.

2001-01-01

Histoplasma capsulatum is an infrequent but serious cause of endocarditis. The definitive diagnosis requires culture, which may require a long incubation. We demonstrated the ability of the Histoplasma capsulatum AccuProbe to accurately identify this organism when applied directly on an excised valve that contained abundant yeast forms consistent with H. capsulatum. PMID:11427583

Multimodality Imaging in Cardiac Sarcoidosis: Is There a Winner?

PubMed Central

Perez, Irving E.; Garcia, Mario J.; Taub, Cynthia C.

2016-01-01

Sarcoidosis is a multisystem granulomatous disease of unknown cause that can affect the heart. Cardiac sarcoidosis may be present in as many as 25% of patients with systemic sarcoidosis, and it is frequently underdiagnosed. The early and accurate diagnosis of myocardial involvement is challenging. Advanced imaging techniques play important roles in the diagnosis and management of patients with cardiac sarcoidosis. PMID:25784137

Optical Coherence Tomography as a Biomarker for Diagnosis, Progression, and Prognosis of Neurodegenerative Diseases

PubMed Central

Otin, Sofia; Fuertes, Maria I.; Vilades, Elisa; Gracia, Hector; Ara, Jose R.; Alarcia, Raquel; Polo, Vicente; Larrosa, Jose M.; Pablo, Luis E.

2016-01-01

Neurodegenerative diseases present a current challenge for accurate diagnosis and for providing precise prognostic information. Developing imaging biomarkers for multiple sclerosis (MS), Parkinson disease (PD), and Alzheimer's disease (AD) will improve the clinical management of these patients and may be useful for monitoring treatment effectiveness. Recent research using optical coherence tomography (OCT) has demonstrated that parameters provided by this technology may be used as potential biomarkers for MS, PD, and AD. Retinal thinning has been observed in these patients and new segmentation software for the analysis of the different retinal layers may provide accurate information on disease progression and prognosis. In this review we analyze the application of retinal evaluation using OCT technology to provide better understanding of the possible role of the retinal layers thickness as biomarker for the detection of these neurodegenerative pathologies. Current OCT analysis of the retinal nerve fiber layer and, specially, the ganglion cell layer thickness may be considered as a good biomarker for disease diagnosis, severity, and progression. PMID:27840739

[Computer aided diagnosis model for lung tumor based on ensemble convolutional neural network].

PubMed

Wang, Yuanyuan; Zhou, Tao; Lu, Huiling; Wu, Cuiying; Yang, Pengfei

2017-08-01

The convolutional neural network (CNN) could be used on computer-aided diagnosis of lung tumor with positron emission tomography (PET)/computed tomography (CT), which can provide accurate quantitative analysis to compensate for visual inertia and defects in gray-scale sensitivity, and help doctors diagnose accurately. Firstly, parameter migration method is used to build three CNNs (CT-CNN, PET-CNN, and PET/CT-CNN) for lung tumor recognition in CT, PET, and PET/CT image, respectively. Then, we aimed at CT-CNN to obtain the appropriate model parameters for CNN training through analysis the influence of model parameters such as epochs, batchsize and image scale on recognition rate and training time. Finally, three single CNNs are used to construct ensemble CNN, and then lung tumor PET/CT recognition was completed through relative majority vote method and the performance between ensemble CNN and single CNN was compared. The experiment results show that the ensemble CNN is better than single CNN on computer-aided diagnosis of lung tumor.

Myositis Ossificans.

PubMed

Walczak, Brian E; Johnson, Christopher N; Howe, B Matthew

2015-10-01

Myositis ossificans is a self-limiting, benign ossifying lesion that can affect any type of soft tissue, including subcutaneous fat, tendons, and nerves. It is most commonly found in muscle as a solitary lesion. Ossifying soft-tissue lesions historically have been inconsistently classified. Fundamentally, myositis ossificans can be categorized into nonhereditary and hereditary types, with the latter being a distinct entity with a separate pathophysiology and treatment approach. The etiology of myositis ossificans is variable; however, clinical presentation generally is characterized by an ossifying soft-tissue mass. Advanced cross-sectional imaging alone can be nonspecific and may appear to be similar to more sinister etiologies. Therefore, the evaluation of a suspicious soft-tissue mass often necessitates multiple imaging modalities for accurate diagnosis. When imaging is indeterminate, biopsy may be required for a histologic diagnosis. However, histopathology varies based on stage of evolution. The treatment of myositis ossificans is complex and is often made in a multidisciplinary fashion because accurate diagnosis is fundamental to a successful outcome. Copyright 2015 by the American Academy of Orthopaedic Surgeons.

A review of rapid and field-portable analytical techniques for the diagnosis of cyanide exposure.

PubMed

Jackson, Randy; Logue, Brian A

2017-04-01

Although commonly known as a highly toxic chemical, cyanide is also an essential reagent for many industrial processes in areas such as mining, electroplating and synthetic fiber production. The "heavy" use of cyanide in these industries, along with its necessary transportation, increases the possibility of human exposure. Another relatively common, but consistently overlooked, mode of cyanide exposure is inhalation of fire smoke. Both civilians and fire rescue personnel risk exposure during the unfortunate event of a structure fire. Additionally, fire rescue personnel risk long-term effects of habitual exposure throughout their careers in fire rescue. The relatively rapid onset of cyanide toxicity and the fact that cyanide exposure symptoms mimic other medical conditions necessitate a rapid, sensitive, portable, and accurate method for the diagnosis of cyanide exposure. This review focuses on the important issues concerning accurate point-of-care diagnosis of cyanide exposure and cyanide detection technologies that may allow a commercial cyanide exposure diagnostic to become a reality. Copyright © 2017 Elsevier B.V. All rights reserved.

Rapid and accurate intraoperative pathological diagnosis by artificial intelligence with deep learning technology.

PubMed

Zhang, Jing; Song, Yanlin; Xia, Fan; Zhu, Chenjing; Zhang, Yingying; Song, Wenpeng; Xu, Jianguo; Ma, Xuelei

2017-09-01

Frozen section is widely used for intraoperative pathological diagnosis (IOPD), which is essential for intraoperative decision making. However, frozen section suffers from some drawbacks, such as time consuming and high misdiagnosis rate. Recently, artificial intelligence (AI) with deep learning technology has shown bright future in medicine. We hypothesize that AI with deep learning technology could help IOPD, with a computer trained by a dataset of intraoperative lesion images. Evidences supporting our hypothesis included the successful use of AI with deep learning technology in diagnosing skin cancer, and the developed method of deep-learning algorithm. Large size of the training dataset is critical to increase the diagnostic accuracy. The performance of the trained machine could be tested by new images before clinical use. Real-time diagnosis, easy to use and potential high accuracy were the advantages of AI for IOPD. In sum, AI with deep learning technology is a promising method to help rapid and accurate IOPD. Copyright © 2017 Elsevier Ltd. All rights reserved.

Rolling bearing fault diagnosis and health assessment using EEMD and the adjustment Mahalanobis-Taguchi system

NASA Astrophysics Data System (ADS)

Chen, Junxun; Cheng, Longsheng; Yu, Hui; Hu, Shaolin

2018-01-01