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Sample records for accurate early diagnosis

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

    PubMed

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

    2012-12-01

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

  2. 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.

  3. Validation of Three Early Ejaculation Diagnostic Tools: A Composite Measure Is Accurate and More Adequate for Diagnosis by Updated Diagnostic Criteria

    PubMed Central

    Jern, Patrick; Piha, Juhana; Santtila, Pekka

    2013-01-01

    Purpose To validate three early ejaculation diagnostic tools, and propose a new tool for diagnosis in line with proposed changes to diagnostic criteria. Significant changes to diagnostic criteria are expected in the near future. Available screening tools do not necessarily reflect proposed changes. Materials and Methods Data from 148 diagnosed early ejaculation patients (Mage = 42.8) and 892 controls (Mage = 33.1 years) from a population-based sample were used. Participants responded to three different questionnaires (Premature Ejaculation Profile; Premature Ejaculation Diagnostic Tool; Multiple Indicators of Premature Ejaculation). Stopwatch measured ejaculation latency times were collected from a subsample of early ejaculation patients. We used two types of responses to the questionnaires depending on the treatment status of the patients 1) responses regarding the situation before starting pharmacological treatment and 2) responses regarding current situation. Logistic regressions and Receiver Operating Characteristics were used to assess ability of both the instruments and individual items to differentiate between patients and controls. Results All instruments had very good precision (Areas under the Curve ranging from .93-.98). A new five-item instrument (named CHecklist for Early Ejaculation Symptoms – CHEES) consisting of high-performance variables selected from the three instruments had validity (Nagelkerke R2 range .51-.79 for backwards/forwards logistic regression) equal to or slightly better than any individual instrument (i.e., had slightly higher validity statistics, but these differences did not achieve statistical significance). Importantly, however, this instrument was more in line with proposed changes to diagnostic criteria. Conclusions All three screening tools had good validity. A new 5-item diagnostic tool (CHEES) based on the three instruments had equal or somewhat more favorable validity statistics compared to the other three tools, but is

  4. [Early diagnosis of skin cancer].

    PubMed

    Kolm, Isabell; Hofbauer, Günther; Braun, Ralph P

    2010-09-01

    The skin is the most affected organ by cancer. The incidence rates of skin cancer are steadily increasing, both for melanoma and non-melanoma skin cancers (squamous cell carcinoma, basal cell carcinoma). Over 90 % of the death cases from skin cancers attribute to melanoma. Survival from melanoma is strongly related to tumour thickness. Therefore early detection is the most important step to improve prognosis. In the last years a number of new non invasive techniques for the early diagnosis of melanoma have been developed which are superior to the naked eye examination. In this overview article we present some non-invasive diagnostic techniques like total body photography, digital dermoscopy and confocal microscopy which in addition to dermoscopy assist the dermatologist in differentiating nevi from early melanomas.Non-melanoma skin cancer can be prevented by accurate sun protection. Early squamous cell carcinomas and basal cell carcinomas can be treated either invasively or non-invasively with excellent prognosis.

  5. Early Diagnosis of Leptospirosis

    PubMed Central

    Babic-Erceg, Andrea; Karlovic-Martinkovic, Diana; Santini, Marija; Persic, Zdenka; Vilibic-Cavlek, Tatjana

    2014-01-01

    A 25-years old man from Zagreb, Croatia, was admitted to the University Hospital for Infectious Diseases four days after the onset of symptoms such as fever, intense pain in the calves and anuria. The patient owned a rabbit and, before the onset of the disease, repaired some rubber pipes damaged by rodents. At admission, he had a severe clinical picture with fever, hypotension, jaundice, immobility, and pain in leg muscles. Treatment with ceftriaxone was initiated in combination with volume restitution. Renal failure soon ensued. Consequently continuous venovenous hemodiaphiltration therapy was performed. Due to acute respiratory distress syndrome, the patient was mechanically ventilated. The patient’s condition gradually improved and he recovered fully from multi-organ failure. Diagnosis was confirmed by a microscopic agglutination test (MAT) covering 15 leptospira serovars and real-time polymerase-chain reaction (PCR). The first serum sample taken on day 6 tested negative for leptospira, while PCR showed positive results for leptospiral DNA. The second serum sample taken on day 13 tested positive for serovar Canicola serogroup Canicola, serovar Patoc, serovar Grippotyphosa serogroup Grippotyphosa and serovar Tarassovi serogroup Tarassovi (titre 4000, 4000, 1000 and 2000, respectively), while PCR was negative. This report highlights the benefits of combining MAT and PCR methods in early diagnosis of leptospirosis. PMID:25002958

  6. Diagnostic limitations to accurate diagnosis of cholera.

    PubMed

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

    2010-11-01

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

  7. [The early diagnosis of spondyloarthritis].

    PubMed

    Novak, Srdan

    2011-01-01

    The most frequent early symptoms of spondyloarthritides are inflammatory back pain and asymetric peripheral arthritis. Currently the mean delay between the onset of first symptoms and diagnosing ankylosing spondylitis which is the frequent type of spondyloarthritis is over 5 years. The availability of effective therapies makes an early diagnosis mandatory. The clinical symptoms of inflammatory back pain, active inflamation on MR, and positivity for HLA-B27 are the most important parameters for an early diagnosis of spondyloarthritis, especially in combination. Moreover, the combination of clinical and laboratory parameters is necessary for the early diagnosis.

  8. [Early diagnosis of ectopic pregnancy].

    PubMed

    Belics, Zoran; Gérecz, Balázs; Csákány, M György

    2014-07-20

    Ectopic pregnancy is a high-risk condition that occurs in 2% of reported pregnancies. This percentage is fivefold higher than that registered in the 1970s. Since 1970 there has been a two-fold increase in the ratio of ectopic pregnancies to all reported pregnancies in Hungary and in 2012 7.4 ectopic pregnancies per thousand registered pregnancies were reported. Recently, the majority (80%) of cases can be diagnosed in early stage, and the related mortality objectively decreased in the past few decades to 3.8/10,000 ectopic pregnancies. If a woman with positive pregnancy test has abdominal pain and/or vaginal bleeding the physician should perform a work-up to safely exclude the possibility of ectopic pregnancy. The basis of diagnosis is ultrasonography, especially vaginal ultrasound examination and measurement of the β-subunit of human chorionic gonadotropin. The ultrasound diagnosis is based on the visualization of an ectopic mass rather than the inability to visualize an intrauterine pregnancy. In some questionable cases the diagnostic uterine curettage or laparoscopy may be useful. The actuality of this topic is justified by practical difficulties in obtaining correct diagnosis, especially in the early gestational time.

  9. Early diagnosis of lung cancer

    NASA Astrophysics Data System (ADS)

    Saccomanno, Geno; Bechtel, Joel J.

    1991-06-01

    Lung cancer remains the leading cause of death in the United States. Although the incidence of cigarette smoking is decreasing in the United States it appears to be increasing worldwide. The five-year survival rate has not improved in cases with advanced disease, but several articles have indicated that survival can be improved in cases diagnosed early by sputum cytology and chest x-ray. In cases diagnosed while the lesion is in the in-situ stage or measures less than 1 cm in diameter, surgical excision and/or radiation therapy improves survival; therefore, the early diagnosis of high-risk patients should be vigorously pursued. A recent study at a community hospital in Grand Junction, Colorado, presented 45 lung cancer cases diagnosed with positive sputum cytology and negative chest x-ray, and indicates that early diagnosis does improve survival. This study has been conducted during the past six years; 16 cases have survived three years and six cases show five-year survival.

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

    PubMed

    Şurlin, Valeriu; Săftoiu, Adrian; Dumitrescu, Daniela

    2014-11-28

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

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

    PubMed

    Mandal, Indrajit; Sairam, N

    2013-05-01

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

  12. Breast Cancer Early Detection and Diagnosis

    MedlinePlus

    ... En Español Category Cancer A-Z Breast Cancer Breast Cancer Early Detection and Diagnosis Breast cancer is sometimes ... cancer screening is so important. Learn more. Can Breast Cancer Be Found Early? Breast cancer is sometimes found ...

  13. Early diagnosis of resistant pathogens

    PubMed Central

    2013-01-01

    Infections with organisms that are resistant to various anti-microbial agents pose a serious challenge to effective management of infections. Resistance to antimicrobial agents, which may be intrinsic or acquired, has been noted in a wide variety of microorganisms causing human infections. These include resistance to antiviral agents in HIV, HBV, CMV and influenza virus, anti-parasitic agents in Plasmodium falciparum, anti-fungal agents in certain Candida species and MDR (multidrug-resistant) tuberculosis. It is however, the problem of multidrug-resistant bacterial infections (caused by MRSA, VRE, ESBL/AmpC/metallo-β lactamase producers and colistin-resistant Gram-negative bacilli) that has become a cause of major concern in clinical settings. Infections with these organisms can increase morbidity, mortality, increase the cost of therapy and increase the duration of hospitalization. The objective of this article is to review the question how early diagnosis of these infections, affects the overall management of infected or colonized patients, with regard to antimicrobial therapy. PMID:23302786

  14. Early Lung Cancer Diagnosis by Biosensors

    PubMed Central

    Zhang, Yuqian; Yang, Dongliang; Weng, Lixing; Wang, Lianhui

    2013-01-01

    Lung cancer causes an extreme threat to human health, and the mortality rate due to lung cancer has not decreased during the last decade. Prognosis or early diagnosis could help reduce the mortality rate. If microRNA and tumor-associated antigens (TAAs), as well as the corresponding autoantibodies, can be detected prior to clinical diagnosis, such high sensitivity of biosensors makes the early diagnosis and prognosis of cancer realizable. This review provides an overview of tumor-associated biomarker identifying methods and the biosensor technology available today. Laboratorial researches utilizing biosensors for early lung cancer diagnosis will be highlighted. PMID:23892596

  15. The early diagnosis of lung cancer

    PubMed Central

    Deeley, T. J.

    1972-01-01

    Earlier diagnosis of malignant disease in the lung may bring about improvements in the treatment. This article discusses the effects of early diagnosis on the prognosis. Cancer of the lung may be associated with other lung pathology, thus increasing the problems of diagnosis. Diagnosis depends on radiological examination, cytology of the sputum, radio-isotope lung scanning and mediastinoscopy: an account is given of how these may be used to diagnose the condition whilst it is still at an early stage and suitable for radical treatment. PMID:4552427

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

    PubMed

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

    2007-01-01

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

  17. Early Pregnancy Diagnosis in Bovines: Current Status and Future Directions

    PubMed Central

    Gupta, Meenakshi; Singh, Surender; Mohanty, Ashok K.; Singh, Inderjeet

    2013-01-01

    An early and accurate diagnosis of reproductive dysfunctions or aberrations is crucial to better reproductive management in livestock. High reproductive efficiency is a prerequisite for high life-time production in dairy animals. Early pregnancy diagnosis is key to shorten the calving interval through early identification of open animals and their timely treatment and rebreeding so as to maintain a postpartum barren interval close to 60 days. A buffalo, the most important dairy animal in the Indian subcontinent, is known for problems related to high calving interval, late puberty, and high incidence of anestrus. Lack of reliable cow-side early pregnancy diagnosis methods further aggravates the situation. Several methods of pregnancy diagnosis are being practiced in bovine species, yet none qualifies as the ideal pregnancy diagnosis method due to the inherent limitations of sensitivity, accuracy, specificity, speed, and ease of performing the test. The advancement of molecular techniques like proteomics and their applications in animal research has given a new hope to look for pregnancy biomarker molecules in these animals. This review attempts to examine common pregnancy diagnosis methods available for dairy animals, while assessing the usefulness of the modern technologies in detecting novel pregnancy markers and designing future strategies for research in this area. PMID:24382949

  18. Alzheimer's disease: early diagnosis and treatment.

    PubMed

    Chu, L W

    2012-06-01

    With ageing of populations, the worldwide population of persons with dementia will reach over 81 million by 2040, of which the most common cause is Alzheimer's disease. In recent years, there have been major advances in the understanding of its pathogenesis, methods to diagnose it, and treatment. Magnetic resonance brain imaging, cerebrospinal fluid biomarkers, and Pittsburgh compound B and fluorodeoxyglucose positron emission tomography of the brain can facilitate an accurate diagnosis of Alzheimer's disease in its early stage, and diagnose the mild cognitive impairment stage of Alzheimer's disease. At present, only symptomatic but not disease-modifying drug treatments are available. Donepezil, rivastigmine and galantamine are the currently approved cholinesterase inhibitors for the treatment of mild, moderate, and severe Alzheimer's disease. Overall, cholinesterase inhibitors show beneficial effects on cognition, activity of daily living, behaviour, and overall clinical rating. Memantine is another symptomatic treatment for moderate-to-severe Alzheimer's disease patients. It has a small beneficial effect on cognition, activity of daily living, behaviour, and overall clinical rating. Vitamin E has antioxidant properties, and may be used in some Alzheimer's disease patients without vascular risk factors. Concurrent non-pharmacological and psychosocial management of patients and their caregivers have a very important role. Disease-modifying therapies are still under development, whilst immunotherapy may be a viable option in the near future.

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

    PubMed

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

    2017-02-01

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

  20. Early pregnancy in adolescents: diagnosis, assessment, options counseling, and referral.

    PubMed

    Aruda, Mary M; Waddicor, Kathleen; Frese, Liesl; Cole, Joanna C M; Burke, Pamela

    2010-01-01

    Health care providers are faced with many challenges when working with adolescents. Vague symptoms, unreliable menstrual history, and adolescent reluctance to disclose sexual activity present challenges to early diagnosis. When pregnancy is suspected, clinicians need skills for accurate diagnosis, conducting comprehensive assessments, and providing options counseling. Complexities of providing confidential care while balancing the needs of the adolescent and family may deter some clinicians. A clinical case scenario illustrates important elements of care. Through sharing lessons learned from 10 years of working in a Pregnancy Follow-up Clinic, the authors hope to empower other clinicians as they care for adolescents during this critical time.

  1. Simple Mathematical Models Do Not Accurately Predict Early SIV Dynamics

    PubMed Central

    Noecker, Cecilia; Schaefer, Krista; Zaccheo, Kelly; Yang, Yiding; Day, Judy; Ganusov, Vitaly V.

    2015-01-01

    Upon infection of a new host, human immunodeficiency virus (HIV) replicates in the mucosal tissues and is generally undetectable in circulation for 1–2 weeks post-infection. Several interventions against HIV including vaccines and antiretroviral prophylaxis target virus replication at this earliest stage of infection. Mathematical models have been used to understand how HIV spreads from mucosal tissues systemically and what impact vaccination and/or antiretroviral prophylaxis has on viral eradication. Because predictions of such models have been rarely compared to experimental data, it remains unclear which processes included in these models are critical for predicting early HIV dynamics. Here we modified the “standard” mathematical model of HIV infection to include two populations of infected cells: cells that are actively producing the virus and cells that are transitioning into virus production mode. We evaluated the effects of several poorly known parameters on infection outcomes in this model and compared model predictions to experimental data on infection of non-human primates with variable doses of simian immunodifficiency virus (SIV). First, we found that the mode of virus production by infected cells (budding vs. bursting) has a minimal impact on the early virus dynamics for a wide range of model parameters, as long as the parameters are constrained to provide the observed rate of SIV load increase in the blood of infected animals. Interestingly and in contrast with previous results, we found that the bursting mode of virus production generally results in a higher probability of viral extinction than the budding mode of virus production. Second, this mathematical model was not able to accurately describe the change in experimentally determined probability of host infection with increasing viral doses. Third and finally, the model was also unable to accurately explain the decline in the time to virus detection with increasing viral dose. These results

  2. [Early diagnosis of autism: Phenotype-endophenotype].

    PubMed

    Kotsopoulos, S

    2015-01-01

    Autism Spectrum Disorders have for some time been the focus of intense interest for clinicians and researchers because of the high prevalence of the disorders among children in the community (approximately 1%), their severity and pervasiveness. Particular attention has been paid to the early diagnosis of the disorder and to the intensive therapeutic intervention. Currently the best prognosis for autism lays in the early diagnosis and intervention. Postponing the diagnosis and the intervention beyond infancy is considered loss of precious time. The diagnosis of autism, which begins early in life, was until recently considered that could be reliability made at the age of 3 years. Recent follow up studies however on children at risk for autism (children who had an older sibling with autism) have shown that the clinical signs of autism emerge at the end of the first year and become distinct by the end of the second year when the diagnosis can reliably be made. From a clinical perspective it is noted that the early clinical signs of risk for autism are related to social communication (e.g. limited or absent response when calling his/her name and to joint attention), stereotype behaviours and body movements or unusual handling of objects (e.g. intensive observation of objects and stereotype movements of hands and tapping or spinning), incongruent regulation of emotions (reduced positive and increased negative emotion). There is also delay in developmental characteristics such as the language (both receptive and expressive) and motor (particularly in postural control - characteristic is the drop of the head backwards when the infant is held in horizontal position). Studies on various aspects of the endophenotype of certain clinical signs among infants at risk for Autism Spectrum Disorders, such as avoidance of eye contact, delay in verbal communication and increase of the head circumference, may provide useful information and may assist the clinician on follow up in the

  3. Potential screening and early diagnosis method for cancer: Tongue diagnosis

    PubMed Central

    HAN, SHUWEN; YANG, XI; QI, QUAN; PAN, YUEFEN; CHEN, YONGCHAO; SHEN, JUNJUN; LIAO, HAIHONG; JI, ZHAONING

    2016-01-01

    Tongue diagnosis, as a unique method of traditional Chinese medicine (TCM), was used to discriminate physiological functions and pathological conditions by observing the changes of the tongue and tongue coating. The aims of the present study were to explore a potential screening and early diagnosis method of cancer through evaluating the differences of the images of tongue and tongue coating and the microbiome on the tongue coating. The DS01-B tongue diagnostic information acquisition system was used to photograph and analyze the tongue and tongue coating. The next-generation sequencing technology was used to determine the V2-V4 hypervariable regions of 16S rDNA to investigate the microbiome on the tongue coating. Bioinformatics and statistical methods were used to analyze the microbial community structure and diversity. Comparing with the healthy people, the number of mirror-like tongue, thick tongue coating and the moisture of tongue were increased in cancers. The dominant color of the tongue in the healthy people was reddish while it was purple in the cancers. The relative abundance of Neisseria, Haemophilus, Fusobacterium and Porphyromonas in the healthy people were higher than that in the cancers. We also found 6 kinds of special microorganisms at species level in cancers. The study suggested that tongue diagnosis may provide potential screening and early diagnosis method for cancer. PMID:27035407

  4. Potential screening and early diagnosis method for cancer: Tongue diagnosis.

    PubMed

    Han, Shuwen; Yang, Xi; Qi, Quan; Pan, Yuefen; Chen, Yongchao; Shen, Junjun; Liao, Haihong; Ji, Zhaoning

    2016-06-01

    Tongue diagnosis, as a unique method of traditional Chinese medicine (TCM), was used to discriminate physiological functions and pathological conditions by observing the changes of the tongue and tongue coating. The aims of the present study were to explore a potential screening and early diagnosis method of cancer through evaluating the differences of the images of tongue and tongue coating and the microbiome on the tongue coating. The DS01-B tongue diagnostic information acquisition system was used to photograph and analyze the tongue and tongue coating. The next-generation sequencing technology was used to determine the V2-V4 hypervariable regions of 16S rDNA to investigate the microbiome on the tongue coating. Bioinformatics and statistical methods were used to analyze the microbial community structure and diversity. Comparing with the healthy people, the number of mirror-like tongue, thick tongue coating and the moisture of tongue were increased in cancers. The dominant color of the tongue in the healthy people was reddish while it was purple in the cancers. The relative abundance of Neisseria, Haemophilus, Fusobacterium and Porphyromonas in the healthy people were higher than that in the cancers. We also found 6 kinds of special microorganisms at species level in cancers. The study suggested that tongue diagnosis may provide potential screening and early diagnosis method for cancer.

  5. Early diagnosis of neonatal cholestatic jaundice

    PubMed Central

    Benchimol, Eric I.; Walsh, Catharine M.; Ling, Simon C.

    2009-01-01

    Abstract OBJECTIVE To review best practices for early recognition and treatment of conditions resulting in neonatal cholestasis, in order to improve long-term outcomes for affected infants. QUALITY OF EVIDENCE Studies, review articles, and meta-analyses pertaining to neonatal-onset cholestasis were sought via electronic databases. Reference lists of studies and review articles supplemented the electronic search. Studies were included if they examined the importance of early diagnosis and intervention for cholestatic jaundice of any cause, and mainly comprised Level II and Level III evidence. MAIN MESSAGE Review of the relevant literature supports the recommendation that infants with jaundice at 2 weeks of age should be tested for cholestasis by quantifying the direct reacting bilirubin levels in their blood. Subsequent rapid investigation using a diagnostic algorithm enables early diagnosis of the specific cause and facilitates timely intervention for conditions whose outcomes are improved by early treatment. CONCLUSION Universal screening for neonatal cholestasis might help with early identification of cases and improve outcomes, although further study is required in the North American setting. PMID:20008595

  6. Early Diagnosis and Early Intervention in Cerebral Palsy

    PubMed Central

    Hadders-Algra, Mijna

    2014-01-01

    This paper reviews the opportunities and challenges for early diagnosis and early intervention in cerebral palsy (CP). CP describes a group of disorders of the development of movement and posture, causing activity limitation that is attributed to disturbances that occurred in the fetal or infant brain. Therefore, the paper starts with a summary of relevant information from developmental neuroscience. Most lesions underlying CP occur in the second half of gestation, when developmental activity in the brain reaches its summit. Variations in timing of the damage not only result in different lesions but also in different neuroplastic reactions and different associated neuropathologies. This turns CP into a heterogeneous entity. This may mean that the best early diagnostics and the best intervention methods may differ for various subgroups of children with CP. Next, the paper addresses possibilities for early diagnosis. It discusses the predictive value of neuromotor and neurological exams, neuroimaging techniques, and neurophysiological assessments. Prediction is best when complementary techniques are used in longitudinal series. Possibilities for early prediction of CP differ for infants admitted to neonatal intensive care and other infants. In the former group, best prediction is achieved with the combination of neuroimaging and the assessment of general movements, in the latter group, best prediction is based on carefully documented milestones and neurological assessment. The last part reviews early intervention in infants developing CP. Most knowledge on early intervention is based on studies in high-risk infants without CP. In these infants, early intervention programs promote cognitive development until preschool age; motor development profits less. The few studies on early intervention in infants developing CP suggest that programs that stimulate all aspects of infant development by means of family coaching are most promising. More research is urgently needed

  7. [Oral cavity cancer: epidemiology and early diagnosis].

    PubMed

    Ghantous, Y; Yaffi, V; Abu-Elnaaj, I

    2015-07-01

    Cancer of the oral cavity (Oral cancer) is the 11th most common malignancy in the world, despite the general global trend of a slight decrease in the incidence of oral cancer, tongue cancer incidence is increasing. About 90% of tumors are subtyped to oral Squamous cell carcinoma (OSCC). The incidence and mortality of this tumor shows variability according to the geographic location in which it is diagnosed, however in the last decade an increase was seen in the percentage of young patients, especially patients with tongue cancer. The overall prognosis of this cancer is roughly 55-65%, this is probably due to late diagnosis. Early diagnosis of oral cancer is the most important factor affecting the overall survival and prognosis, thus several diagnosis methods have been developed in the past few years. Still, the prognosis did not improve as expected. Oral cancer biomarkers in saliva is as easy body fluid, for noninvasive detection. Several researches identified several possible biomarkers, but none was specific. In our review, the incidence and mortality of oral tumors pose a main health problem in many aspects all around the world, as well as differences in behavior of these tumors. We witnessed more cases of anterior tongue cancers affecting mainly the young age patient group, a two decades younger than the normal risk group of oral cancer. Several countries in Europe showed a significant increase of oral cancer prevalence, such as Germany, especially in men. Similar behavior was also reported in the United States, which showed a change in the risk groups. Studies have reported an alarming lack of awareness about oral cancer, its symptoms and early diagnosis. These gaps in knowledge need to be addressed by further public education, possibly targeted at high-risk groups. With the knowledge of possible, specific, early biomarkers, primary detection could improve the prognosis tremendously. Research on the salivary biomarkers of the disease would help to develop

  8. [Predementia Alzheimer's disease. Benefits of early diagnosis].

    PubMed

    Viloria, Aurora

    2011-10-01

    Given population aging and the rise in the number of persons with Alzheimer's disease, measures that aim not only to delay but also to prevent the development of this disease are increasingly required. Advances in the diagnosis of Alzheimer's disease support the need for a review of current clinical standards for mild cognitive impairment and provide new goals in the early treatment of this disease. The current diagnostic process should be refocussed toward the pathological substrate of this disease rather than symptoms in order to initiate therapeutic measures as soon as possible without waiting for clinical manifestations to appear. Such an approach is essential in patients with greater cognitive reserve, in whom the lesions are usually more severe at diagnosis and treatment is less effective. To identify disease-modifying therapies to delay the onset of the clinical symptoms of Alzheimer's disease in cognitively intact persons at high risk, biomarkers for this disease must be validated. A single biomarker is unlikely to provide the required diagnostic accuracy and therefore a multimodal approach, incorporating biochemical, neuropathological and anatomical and metabolic neuroimaging methods, should be employed. To optimize the results of drugs under investigation, a combination of biomarkers should be used to select appropriate participants in the earliest phases of the disease, and disease progression should be followed-up. Early diagnosis might clarify essential questions in the care of patients with Alzheimer's disease, such as the possibility of distinguishing among various subtypes, thus encouraging the development of optimal treatments for each. The ultimate goal is to develop disease-modifying treatments that could be initiated early, while patients are asymptomatic or only minimally symptomatic, to maintain their quality of life.

  9. Biomarkers for early diagnosis of pancreatic cancer.

    PubMed

    Jenkinson, Claire; Earl, Julie; Ghaneh, Paula; Halloran, Christopher; Carrato, Alfredo; Greenhalf, William; Neoptolemos, John; Costello, Eithne

    2015-03-01

    Pancreatic ductal adenocarcinoma is an aggressive malignancy with a 5-year survival rate of approximately 5%. The lack of established strategies for early detection contributes to this poor prognosis. Although several novel candidate biomarkers have been proposed for earlier diagnosis, none have been adopted into routine clinical use. In this review, the authors examine the challenges associated with finding new pancreatic cancer diagnostic biomarkers and explore why translation of biomarker research for patient benefit has thus far failed. The authors also review recent progress and highlight advances in the understanding of the biology of pancreatic cancer that may lead to improvements in biomarker detection and implementation.

  10. Postpartum psychiatric disorders: Early diagnosis and management

    PubMed Central

    Rai, Shashi; Pathak, Abhishek; Sharma, Indira

    2015-01-01

    Postpartum period is demanding period characterized by overwhelming biological, physical, social, and emotional changes. It requires significant personal and interpersonal adaptation, especially in case of primigravida. Pregnant women and their families have lots of aspirations from the postpartum period, which is colored by the joyful arrival of a new baby. Unfortunately, women in the postpartum period can be vulnerable to a range of psychiatric disorders like postpartum blues, depression, and psychosis. Perinatal mental illness is largely under-diagnosed and can have far reaching ramifications for both the mother and the infant. Early screening, diagnosis, and management are very important and must be considered as mandatory part of postpartum care. PMID:26330638

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

    PubMed

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

    2015-07-01

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

  12. Improving diagnosis of appendicitis. Early autologous leukocyte scanning.

    PubMed

    DeLaney, A R; Raviola, C A; Weber, P N; McDonald, P T; Navarro, D A; Jasko, I

    1989-10-01

    A prospective nonrandomized study investigating the accuracy and utility of autologous leukocyte scanning in the diagnosis of apendicitis was performed. One hundred patients in whom the clinical diagnosis of appendicitis was uncertain underwent indium 111 oxyquinoline labelling of autologous leukocytes and underwent scanning 2 hours following reinjection. Of 32 patients with proved appendicitis, three scans revealed normal results (false-negative rate, 0.09). Of 68 patients without appendicitis, three scans had positive results (false-positive rate, 0.03; sensitivity, 0.91; specificity, 0.97; predictive value of positive scan, 0.94; predictive value of negative scan, 0.96; and overall accuracy, 0.95). Scan results altered clinical decisions in 19 patients. In 13 cases, the scan produced images consistent with diagnoses other than appendicitis, expediting appropriate management. Early-imaging111 In oxyquinoline autologous leukocyte scanning is a practical and highly accurate adjunct for diagnosing appendicitis.

  13. Use of Saliva for Early Dengue Diagnosis

    PubMed Central

    Ng, Lee-Ching

    2011-01-01

    Background The necessity of a venous blood collection in all dengue diagnostic assays and the high cost of tests that are available for testing during the viraemic period hinder early detection of dengue cases and thus could delay cluster management. This study reports the utility of saliva in an assay that detects dengue virus (DENV)–specific immunoglobulin A (Ig A) early in the phase of a dengue infection. Methods and Findings Using an antigen capture anti-DENV IgA (ACA) ELISA technique, we tested saliva samples collected from dengue-confirmed patients. The sensitivity within 3 days from fever onset was over 36% in primary dengue infections. The performance is markedly better in secondary infections, with 100% sensitivity reported in saliva samples from day 1 after fever onset. Serum and salivary IgA levels showed good correlation (Pearson's r = 0.69, p<0.001). Specificity was found to be 97%. Conclusion Our findings suggest that this technique would be very useful in dengue endemic regions, where the majority of dengue cases are secondary. The ACA-ELISA is easy to perform, cost effective, and especially useful in laboratories without sophisticated equipment. Our findings established the usefulness and reliability of saliva for early dengue diagnosis. PMID:21572982

  14. Cavernous sinus syndrome: need for early diagnosis

    PubMed Central

    Toro, Jaime; Burbano, Lisseth Estefania; Reyes, Saúl; Barreras, Paula

    2015-01-01

    Cavernous sinus syndrome (CSS) is a rare condition characterised by ophthalmoplegia, proptosis, ocular and conjunctival congestion, trigeminal sensory loss and Horner’s syndrome. These signs and symptoms result from the involvement of the cranial nerves passing through the cavernous sinus. We report the case of a 53-year-old man with a history of daily stabbing headache associated with dizziness, progressive blurred vision, right ocular pain, ptosis and ophthalmoplegia. After working up the patient, a meningioma was identified as the cause of the CSS. Despite advances in neuroimaging techniques, in some cases, the aetiology of CSS remains difficult to determine. We highlight the clinical and radiological features of a meningioma, one of the causes of CSS. Early diagnosis and treatment of CSS play a key role in a better prognosis. PMID:25819816

  15. Early ultrasonographic diagnosis of retinal detachment: multidisciplinary approach and benefit.

    PubMed

    Cabric, Emir; Salihefendic, Nizama; Zildzic, Muharem; Licanin, Zoran; Smajlovic, Fahrudin

    2010-01-01

    Patients with eye problems are often present in family medicine and emergency wards, whether it is isolated disturbances of vision, or as part of other diseases. A large number of pathological entities of the eye require prompt and accurate diagnosis and appropriate therapy before they get to specialized ophthalmological institutions. Ultrasonography of the eye is a simple, non-invasive, painless method that can be done at the first contact with patients and can provide very important information for accurate diagnosis of pathological changes. Early detection of retinal ablation, intra ocular bleeding and tumors by this method can save sight and lives of patients. Sonography of the eye in 667 patients over two years revealed 27 retinal ablation and hemophthalmos in 36 patients. Every fifth patient with retinal ablation was referred by a doctor of family medicine. Knowing the possibilities of ultrasonography in ophthalmology, teamwork at the level of primary health care can open access to ultrasonography of the eye for other specialty physicians which can improve population health and provide a new quality in the prevention of vision loss.

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

    PubMed

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

    2012-10-01

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

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

    PubMed Central

    da Silva, Orlando; Ohlsson, Arne

    1998-01-01

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

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

    PubMed

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

    1992-01-01

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

  19. The early diagnosis of lung cancer.

    PubMed

    Petty, T L

    2001-06-01

    Lung cancer is the most common fatal malignancy in both men and women, both in the United States and elsewhere in the world. Today, lung cancer is most often diagnosed on the basis of symptoms of advanced disease or when chest x-rays are taken for a variety of purposes unrelated to lung cancer detection. Unfortunately, in the United States no society or governmental agency recommends screening, even for patients with high risks, such as smokers with airflow obstruction or people with occupational exposures, including asbestos. The origins of this negative attitude toward lung cancer screening are found in 3 studies sponsored by the National Cancer Institute in the mid-1970s and conducted at Johns Hopkins University School of Medicine, the Mayo Clinic, and the Memorial Sloan-Kettering Center. These studies concluded that early identification of lung cancer through chest x-rays and cytologic diagnosis of sputum did not alter disease-specific mortality. However, patients with earlier stage disease were found through screening, which resulted in a higher resectability rate and improved survival in the screening group compared with a control group of patients receiving ordinary care. Patients in the control group often received annual chest x-rays during the course of this study, which was the standard of care at the time. Thus no true nonscreening control group resulted. The patients at highest risk were not enrolled in this study. No specific amount of pack-years of smoking intensity was required. Only men were screened. The studies were inadequately powered to show an improvement in mortality rate of less than 50%. Ninety percent of lung cancer occurs in smokers. The prevalence of lung cancer is 4 to 6 times greater when smokers have airflow obstruction than with normal airflow, when all other background factors, including smoking history, occupational risk, and family history, are the same. Screening heavy smokers (ie, > or = 30 pack-years) with airflow obstruction

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

    PubMed

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

    2016-01-01

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

  1. Autofluorescence spectroscopy for early diagnosis of cancer eye

    NASA Astrophysics Data System (ADS)

    Majumder, Shovan K.; Ghosh, Nirmalya; Rathod, Sopan M.; Gupta, Pradeep K.

    2007-02-01

    We report an in-vitro autofluorescence spectroscopic study of cow eye tissue to explore the applicability of the approach in discriminating early stage "cancer eye" from normal squamous eye tissues. Significant differences were observed in the autofluorescence signatures between the "cancer eye" and normal eye tissues. The spectral differences were quantified by employing a probability-based diagnostic algorithm developed based on recently formulated theory of Relevance Vector Machine (RVM), a Bayesian machine-learning framework of statistical pattern recognition. The algorithm provided sensitivity and specificity values of 97 +/- 2% towards cancer for the training set data based on leave-one-out cross validation and a sensitivity of 97 +/- 2% and a specificity of 99 +/- 1% towards cancer for the independent validation set data. These results suggest that autofluorescence spectroscopy might prove to be a quantitative in-vivo diagnostic modality for early and accurate diagnosis of "cancer eye" in veterinary clinical setting, which would help improve ranch management from both economic and animal care standpoint.

  2. Potential of optical coherence tomography for early diagnosis of oral malignancies

    PubMed Central

    DeCoro, Michael; Wilder-Smith, Petra

    2014-01-01

    With nearly 1,500,000 new patients diagnosed every year in the USA, cancer poses a considerable challenge to healthcare today. Oral cancer is responsible for a sizeable portion of deaths due to cancer, primarily because it is diagnosed at a late stage when the prognosis is poor. Current methods for diagnosing oral cancer need to be augmented by better early detection, monitoring and screening modalities. A new approach is needed that provides real-time, accurate, noninvasive diagnosis. The results of early clinical trials using in vivo optical coherence tomography for the diagnosis of oral dysplasia and malignancy are encouraging. PMID:20214513

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

    PubMed Central

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

    2015-01-01

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

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

    SciTech Connect

    James, Veronica J.

    2009-10-21

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

  5. Dementia in 2014. Towards early diagnosis in Alzheimer disease.

    PubMed

    Nordberg, Agneta

    2015-02-01

    Improved neuroimaging and molecular markers of Alzheimer disease (AD) have aided diagnosis of AD in the very early stages, and have facilitated differential diagnosis between AD and other neurodegenerative disorders with dementia. The finding that some older individuals can show amyloid-β pathology while remaining cognitively intact raises important questions regarding prevention strategies.

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

    PubMed

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

    2015-01-01

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

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

    PubMed Central

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

    2015-01-01

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

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

    PubMed

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

    2007-12-01

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

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

    PubMed Central

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

    2009-01-01

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

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

    SciTech Connect

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

    1988-08-01

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

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

    ERIC Educational Resources Information Center

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

    2013-01-01

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

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

    PubMed Central

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

    2016-01-01

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

  13. [Advancement in the research of early detection of bacterial nucleic acid in molecular diagnosis of sepsis].

    PubMed

    Liu, Xiao; Ren, Hui; Peng, Dai-zhi

    2013-04-01

    Early diagnosis of sepsis helps make effective clinical decisions and improve the survival rate of patients with severe infection. However, the timely and accurate diagnosis of sepsis is still a great challenge in clinic. In order to settle the very problem, the scientists in the world have made a lot of exploration and research in the field of rapid molecular identification of pathogens. Nowadays, the nucleic acid detection of sepsis is mainly composed of 3 types of methodological strategies, either based on positive blood culture, single colonies, or directly on blood specimens. This paper presents a comprehensive overview of advances in the research of early detection of bacterial nucleic acid as molecular diagnosis of sepsis.

  14. Novel blood-based microRNA biomarker panel for early diagnosis of chronic pancreatitis

    PubMed Central

    Xin, Lei; Gao, Jun; Wang, Dan; Lin, Jin-Huan; Liao, Zhuan; Ji, Jun-Tao; Du, Ting-Ting; Jiang, Fei; Hu, Liang-Hao; Li, Zhao-Shen

    2017-01-01

    Chronic pancreatitis (CP) is an inflammatory disease characterized by progressive fibrosis of pancreas. Early diagnosis will improve the prognosis of patients. This study aimed to obtain serum miRNA biomarkers for early diagnosis of CP. In the current study, we analyzed the differentially expressed miRNAs (DEmiRs) of CP patients from Gene Expression Omnibus (GEO), and the DEmiRs in plasma of early CP patients (n = 10) from clinic by miRNA microarrays. Expression levels of DEmiRs were further tested in clinical samples including early CP patients (n = 20), late CP patients (n = 20) and healthy controls (n = 18). The primary endpoints were area under curve (AUC) and expression levels of DEmiRs. Four DEmiRs (hsa-miR-320a-d) were obtained from GEO CP, meanwhile two (hsa-miR-221 and hsa-miR-130a) were identified as distinct biomarkers of early CP by miRNA microarrays. When applied on clinical serum samples, hsa-miR-320a-d were accurate in predicting late CP, while hsa-miR-221 and hsa-miR-130a were accurate in predicting early CP with AUC of 100.0% and 87.5%. Our study indicates that miRNA expression profile is different in early and late CP. Hsa-miR-221 and hsa-miR-130a are biomarkers of early CP, and the panel of the above 6 serum miRNAs has the potential to be applied clinically for early diagnosis of CP. PMID:28074846

  15. Gastric cancer: prevention, screening and early diagnosis.

    PubMed

    Pasechnikov, Victor; Chukov, Sergej; Fedorov, Evgeny; Kikuste, Ilze; Leja, Marcis

    2014-10-14

    Gastric cancer continues to be an important healthcare problem from a global perspective. Most of the cases in the Western world are diagnosed at late stages when the treatment is largely ineffective. Helicobacter pylori (H. pylori) infection is a well-established carcinogen for gastric cancer. While lifestyle factors are important, the efficacy of interventions in their modification, as in the use of antioxidant supplements, is unconvincing. No organized screening programs can be found outside Asia (Japan and South Korea). Although several screening approaches have been proposed, including indirect atrophy detection by measuring pepsinogen in the circulation, none of them have so far been implemented, and more study data is required to justify any implementation. Mass eradication of H. pylori in high-risk areas tends to be cost-effective, but its adverse effects and resistance remain a concern. Searches for new screening biomarkers, including microRNA and cancer-autoantibody panels, as well as detection of volatile organic compounds in the breath, are in progress. Endoscopy with a proper biopsy follow-up remains the standard for early detection of cancer and related premalignant lesions. At the same time, new advanced high-resolution endoscopic technologies are showing promising results with respect to diagnosing mucosal lesions visually and targeting each biopsy. New histological risk stratifications (classifications), including OLGA and OLGIM, have recently been developed. This review addresses the current means for gastric cancer primary and secondary prevention, the available and emerging methods for screening, and new developments in endoscopic detection of early lesions of the stomach.

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

    SciTech Connect

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

    1990-04-01

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

  17. Early diagnosis of Canavan syndrome: how can we get there?

    PubMed

    De Bernardo, Giuseppe; Giordano, Maurizio; Sordino, Desiree; Buono, Salvatore

    2015-08-05

    Canavan syndrome is a rare genetic disorder characterised by progressive severe leukodystrophy involving the degeneration of white matter. Currently, there is no effective therapy, but after recent studies using early gene therapy, the outcome has appeared to improve. It is of fundamental importance to recognise signs of neonatal Canavan syndrome early on. We describe a case of neonatal Canavan syndrome in which diagnosis was made only at the fourth month of age.

  18. Morbidity in early Parkinson's disease and prior to diagnosis

    PubMed Central

    Frandsen, Rune; Kjellberg, Jakob; Ibsen, Rikke; Jennum, Poul

    2014-01-01

    Background Nonmotor symptoms are probably present prior to, early on, and following, a diagnosis of Parkinson's disease. Nonmotor symptoms may hold important information about the progression of Parkinson's disease. Objective To evaluated the total early and prediagnostic morbidities in the 3 years before a hospital contact leading to a diagnosis of Parkinson's disease. Methods Retrospective morbidity data from Danish National Patient Registry records (1997–2007) of 10,490 adult patients with a secondary care diagnosis of Parkinson's disease were compared with 42,505 control cases. Results Parkinson's disease was associated with significantly higher morbidity rates associated with conditions in the following categories: mental and psychiatric, nervous system, gastrointestinal, musculoskeletal system and connective tissue, genitourinary, abnormal clinical and laboratory findings, injury, poisoning and certain other external causes, and other factors influencing health status and contact with health services. It was negatively associated with neoplasm, cardiovascular, and respiratory diseases. Conclusions Patients with a diagnosis of Parkinson's disease present significant differences in morbidities early on, following, and prior to, their diagnosis, compared with healthy controls. PMID:24944873

  19. [Cerebrospinal fluid biomarkers for the early diagnosis of Parkinson's disease].

    PubMed

    da Costa, Andreia Gomes; Gago, Miguel Fernandes; Garrett, Carolina

    2011-12-01

    In current medical practice, the diagnosis of Parkinson's disease remains essentially clinical. This practice determines that the diagnosis of Parkinson's disease is done in an already advanced neuropathological stage of the disease. The aim of this study is to review the validity of cerebrospinal fluid protein biological markers in the early diagnosis of Parkinson's disease. The a-synuclein and DJ-1 proteins, due to their role in the hereditary Parkinson's disease, have been the most widely studied cerebrospinal biomarkers. Nevertheless, they have had divergent results mostly owing to different processing, identification and control of laboratory techniques. The new proteomic techniques, directed to the detection of multiple undifferentiated proteins in cerebrospinal fluid (eg. ceruloplasmin, chromogranin B, apoH), are promising. The early diagnosis of Parkinson's disease is imperious as it is a progressive neurodegenerative disorder that causes extensive morbidity. Most of current scientific research in Parkinson's disease is focused on the discovery of neuroprotective drugs. Thus, the definition of biomarkers for the early diagnosis of Parkinson's disease is highly relevant.

  20. [A survey on biomarkers and early diagnosis in Alzheimer's disease].

    PubMed

    Taragano, Fernando E; Castro, Diego M; Serrano, Cecilia M; Heisecke, Silvina L; Pérez Leguizamón, Patricio; Loñ, Leandro; Dillon, Carol

    2015-01-01

    Given the potential use of biomarkers in the diagnosis of Alzheimer's disease (AD) in early stages, new ethical and communication dilemmas appear in everyday clinical practice. The aim of this study was to know the opinion of health professionals (HP) and general public (GP) on the implementation of early diagnostic techniques in AD and the use of biomarkers for this purpose. A survey with multiple choice answers was elaborated in two versions: one for HP and the other for GP. Respondents were invited to participate through a system of mass mailing e-mail; e-mail addresses were collected from CEMIC database. A total of 1503 answers were analyzed: 807 HP and 696 GP. Most respondents, 84.7%, preferred the option of early diagnosis of AD even knowing the lack of curative treatment. Forty five percent of GP and 26.8% of HP replied that there is no ethical dilemma in the use of biomarkers and that no communication or ethical dilemma is generated to physicians when informing the diagnosis of the disease. The HP group showed more divergence in the views than the GP group. These results may indicate a change in the physician-patient relationship, showing the GP group with an active and supportive position towards the use of biomarkers for early diagnosis of AD.

  1. Infectious Postpartum Sacroiliitis: The Importance and Difficulty of Early Diagnosis.

    PubMed

    Vale-Fernandes, Emídio; Rodrigues, Fedra; Monteiro, Carla; Carvalho, Luís

    2016-08-01

    The sacroiliitis accounts for about 1.5% - 10% of all cases of septic arthritis and it is strongly associated with gynaecological infections, pelvic trauma or drug abuse (3.4% - 12.8% of cases occur during the postpartum period). Early diagnosis is difficult because the symptoms are nonspecific in pregnancy and in the postpartum period, making the delay of treatment a serious risk of irreversible damage to the joint and development of post-infectious complications. The authors describe the case of a 37-year-old puerperal woman presented to hospital, weeks after urgent caesarean section, with endometritis, post-anesthetic epidural hematoma and secondary infectious postpartum sacroiliitis. The diagnosis of sacroiliac joints pathology during pregnancy and puerperium is challenging. The pathogenesis of infectious sacroiliitis results from local contamination by contiguous infection or hematogenous spread of bacterial infections. The prognosis is usually favorable and depends on early diagnosis and treatment.

  2. CRAFT: Multimodality confocal skin imaging for early cancer diagnosis.

    PubMed

    Peng, Tong; Xie, Hao; Ding, Yichen; Wang, Weichao; Li, Zhiming; Jin, Dayong; Tang, Yuanhe; Ren, Qiushi; Xi, Peng

    2012-05-01

    Although histological analysis serves as a gold standard to cancer diagnosis, its application on skin cancer detection is largely prohibited due to its invasive nature. To obtain both the structural and pathological information in situ, a Confocal Reflectance/Auto-Fluorescence Tomography (CRAFT) system was established to examine the skin sites in vivo with both reflectance and autofluorescence modes simultaneously. Nude mice skin with cancerous sites and normal skin sites were imaged and compared with the system. The cellular density and reflective intensity in cancerous sites reflects the structural change of the tissue. With the decay coefficient analysis, the corresponding NAD(P)H decay index for cancerous sites is 1.65-fold that of normal sites, leading to a 97.8% of sensitivity and specificity for early cancer diagnosis. The results are verified by the followed histological analysis. Therefore, CRAFT may provide a novel method for the in vivo, non-invasive diagnosis of early cancer.

  3. Breast cancer early diagnosis based on hybrid strategy.

    PubMed

    Li, Peng; Bi, Tingting; Huang, Jiuling; Li, Siben

    2014-01-01

    The frequent occurrence of breast cancer and its serious consequences have attracted worldwide attention in recent years. Problems such as low rate of accuracy and poor self-adaptability still exist in traditional diagnosis. In order to solve these problems, an AdaBoost-SVM classification algorithm, combined with the cluster boundary sampling preprocessing techniques (CBS-AdaBoost-SVM), is proposed in this paper for the early diagnosis of breast cancer. The algorithm uses machine learning method to diagnose the unknown image data. Moreover, not all of the characteristics play positive roles for classification. To address this issue the paper delete redundant features by using Rough set attribute reduction algorithm based on the genetic algorithm (GA). The effectiveness of the proposed methods are examined on DDSM by calculating its accuracy, confusion matrix, and receiver operating characteristic curves, which give important clues to the physicians for early diagnosis of breast cancer.

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

    PubMed Central

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

    2016-01-01

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

  5. [Challenges to early diagnosis of prostate cancer in Peru].

    PubMed

    Pow-Sang, Mariela; Huamán, Marco A

    2013-03-01

    Early detection of prostate cancer in Peru is very uncommon, as patients usually arrive when the disease is locally advanced or advanced. There are no prostate cancer screening campaigns that allow us to detect this disease in early stages. The incidence rates, according to the Registry of Cancer in Metropolitan Lima, are increasing. However, there is probably an under register of cases in our country, since there are not any nation-wide records showing the real magnitude of this disease. It is imperative to develop prevention programs for the early diagnosis of prostate cancer through digital rectal exams and to perform the measurement of the prostate- specific antigen (PSA) in the blood.

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

    ERIC Educational Resources Information Center

    Luepnitz, Roy R.; And Others

    1982-01-01

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

  7. An algorithm for early diagnosis of cervicofacial necrotising fasciitis.

    PubMed

    Malik, Vikas; Gadepalli, Chaitanya; Agrawal, Shailesh; Inkster, Claire; Lobo, Christopher

    2010-08-01

    Cervicofacial necrotising fasciitis (CNF) is a potentially fatal infection which can occasionally present in the head and neck. An early diagnosis and aggressive treatment is imperative for minimising the associated mortality and morbidity. The early clinical features are usually non-specific which makes it difficult to differentiate it from other less serious infections. Necrosis of the skin is a late feature. Although it is more common in the immunocompromised, it can also affect normal individuals. We discuss our experience of five patients with CNF, review of literature and algorithm for early diagnosis of CNF. With experience, we were able to diagnose the subsequent cases early and minimise the mortality and morbidity. In conclusion, the incidence of CNF has increased in the last decade partly due to an increased clinical awareness. Early intervention is essential to minimise the mortality and morbidity. It should be managed by a team of at least otolaryngologists, intensivist, microbiologist and plastic surgeons; cardiothoracic surgeons may be required. Treatment involves early aggressive surgical debridement/fasciotomy, intravenous antibiotics and general metabolic support in the intensive care unit.

  8. Early diagnosis of opportunistic systemic fungal and nocardial infections.

    PubMed

    Block, C S; Young, C N

    1977-12-17

    An approach to the expediting of the diagnosis of opportunistic systemic mycoses is presented. Communication between clinician and microbiologist is basic to this approach. The importance of the clinical assessment of the individual patient, coupled with a high index of suspicion, is stressed. Our experience with 11 of 42 cases of systemic mycosis over a 28-month period is analysed. For the diagnosis of fungaemia a method for the microscopical examination of peripheral blood is briefly evaluated, and a membrane filter blood culture technique is shown to be valuable, yielding results in 16-24 hours. In the absence of fungaemia the considered microscopical examination of suitable specimens, when feasible, is the most rapid method available. Serological methods may be helpful in early diagnosis, but this is often hampered by the absence of baseline sera and by the lengthy nature of some tests. Newer indirect methods such as gas chromatography are being developed but have not yet been used routinely.

  9. [Early diagnosis of phenylketonuria. Follow up of 2 cases].

    PubMed

    Raimann, E; Cornejo, V; Perales, C G; Barros, T; Moraga, M; Colombo, M

    1992-09-01

    A screening program for the early diagnosis of phenylketonuria was initiated 24 months ago in the Servicio de Salud Metropolitano Central. Since then, 2 cases with phenylketonuria have been early diagnosed. These patients started their nutritional treatment, consisting of a phenylalanine restricted diet at 14 and 17 days of age. The children are submitted to periodic medical, anthropometric, neurologic, biochemical and psychometric analysis. With a strict control they maintain phenylalanine plasma levels between 2 and 6 mg%. Both patients have a normal psychomotor development at 4.5 and 6.5 months of age and an anthropometric development at p50 of NCHS.

  10. Techniques for early diagnosis and management of cervicofacial necrotising fasciitis

    PubMed Central

    Lee, Judy W; Immerman, Sara B; Morris, Luc GT

    2010-01-01

    Background Cervicofacial necrotising fasciitis carries high rates of morbidity and mortality, and is not often initially suspected due to its rarity and misleadingly innocuous presentation. We propose an algorithm for the timely diagnosis and management of cervicofacial necrotising fasciitis. Methods Retrospective review of seven patients ultimately diagnosed with cervicofacial necrotising fasciitis. Results In these seven patients, common presenting symptoms included sore throat, fever and neck pain. On initial examination and imaging, only three had obvious findings. One patient’s diagnosis was facilitated via a bedside cut-down procedure. Six patients underwent surgical debridement. Four required tracheotomy, and five wounds closed via secondary intention. There were two deaths. Conclusion The severity of cervical necrotising fasciitis and its rapid spread necessitate early diagnosis and timely surgical management. The presentation often appears benign. A high index of clinical suspicion should be maintained in cases of neck cellulitis with nonspecific clinical findings, especially in diabetic or otherwise immunocompromised patients. A normal computed tomography scan does not rule out necrotising fasciitis. A cut-down procedure may be critical to early diagnosis in some cases. PMID:20298644

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

    PubMed

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

    2016-04-01

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

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

    PubMed Central

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

    2016-01-01

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

  13. [Early diagnosis of gastric cancer, a utopian idea? (author's transl)].

    PubMed

    Seifert, E

    1981-05-01

    In order to improve the prognosis of gastric cancer it is necessary to discover the lesions at an early stage of the disease. Early gastric cancer has an excellent prognosis with a postoperative survival rate of 77 to 99%. Since 1970 we have diagnosed 76 cases of early gastric cancer and the percentage of early cancer out of all gastric cancers increased from 10 to 23%. This improvement is based on selected examinations of high-risk patients, on better diagnostic methods and on our better knowledge of macroscopic and histological appearance. In particular, the use of snare biopsy in protruding lesions and the implementation of continuous endoscopic-bioptic follow-up of all gastric ulcers until complete healing is achieved have improved the accuracy of histological verification. In 16 out of 76 cases of early gastric cancer a multicentric growth was observed. The diagnosis of gastric cancer at an early stage is not an utopian idea. It is reality when we pay attention to the aspects mentioned before.

  14. Early diagnosis of acute postoperative renal transplant rejection

    SciTech Connect

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

    1985-05-01

    A prospective evaluation of In-111 labeled autologous platelet scintigraphy for the early diagnosis of acute postoperative renal transplant rejection was undertaken. To date, 28 consecutive patients between 7 and 14 days post-op have been injected with 500..mu..Ci of In-111 platelets followed by imaging at 24 and 48 hours. Activity within the renal transplant exceeding activity in the adjacent iliac vessels was considered to be evidence of rejection, and both chemical evidence and clinical impression of rejection at 5 days after completion of imaging was accepted as proof of ongoing or incipient rejection at the time of scintigraphy. In addition, to visual inspection, independent quantitative analysis compared the area-normalized activity over the transplant with the adjacent iliac vessels (normal <1.0). For 5 patients, positive In-111 scintigraphy was present before convincing clinical evidence of rejection. In-111 platelet scintigraphy is useful not only to confirm the clinical diagnosis of rejection but also to establish the early, pre-clinical diagnosis of incipient acute postoperative renal transplant rejection.

  15. Role of Galactography in the Early Diagnosis of Breast Cancer

    PubMed Central

    Berná-Serna, Juan D.; Torres-Ales, Carolina; Berná-Mestre, Juan D.; Polo, Luis

    2013-01-01

    Summary Background The purpose of this study was to evaluate the usefulness of galactography (GL) in the early diagnosis of breast cancer in patients with pathologic nipple discharge (PND). Patients and Methods We retrospectively studied all galactograms obtained in 117 women with PND, who subsequently had a biopsy. The findings detected in the galactograms of the patients in this study were assigned to different categories of the Galactogram Image Classification System (GICS): GICS 2, benign; GICS 3, probably benign; GICS 4, suspicious for malignancy; and GICS 5, highly suspicious for malignancy. Results The galactograms were classified into GICS 2 (29 cases; 24.7%), GICS 3 (42 cases; 35.8%), GICS 4 (30 cases; 25.6%), and GICS 5 (16 cases; 13.6%). A good correlation was observed between histological diagnosis and GICS categories (p < 0.05). All cases diagnosed with carcinoma (n = 18) were classified in GICS categories 4–5: ductal carcinoma in situ in 14 cases (11.9%) and invasive carcinoma in 4 cases (3.4%). Conclusion GL is a useful procedure in the early diagnosis of breast cancer in patients with PND. PMID:24419050

  16. Diagnosis and early detection of COPD using spirometry

    PubMed Central

    Johns, David P.

    2014-01-01

    The standard respiratory function test for case detection of chronic obstructive pulmonary disease (COPD) is spirometry. The criterion for diagnosis defined in guidelines is based on the FEV1/FVC ratio forced expiratory ratio (FER) and its severity is based on forced expiratory volume in one second (FEV1) from measurements obtained during maximal forced expiratory manoeuvres. Spirometry is a safe and practical procedure, and when conducted by a trained operator using a spirometer that provides quality feedback, the majority of patients can be coached to provide acceptable and repeatable results. This allows potentially wide application of testing to improve recognition and diagnosis of COPD, such as for case finding in primary care. However, COPD remains substantially under diagnosed in primary care and a major reason for this is underuse of spirometry. The presence of symptoms is not a reliable indicator of disease and diagnosis is often delayed until more severe airflow obstruction is present. Early diagnosis is worthwhile, as it allows risk factors for COPD such as smoking to be addressed promptly and treatment optimised. Paradoxically, investigation of the patho-physiology in COPD has shown that extensive small airway disease exists before it is detectable with conventional spirometric indices, and methods to detect airway disease earlier using the flow-volume curve are discussed. PMID:25478197

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

    PubMed Central

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

    2014-01-01

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

  18. Small bait traps as accurate predictors of dipteran early colonizers in forensic studies.

    PubMed

    Farinha, Ana; Dourado, Catarina G; Centeio, Neiva; Oliveira, Ana Rita; Dias, Deodália; Rebelo, Maria Teresa

    2014-05-30

    Insect carrion communities vary among habitats and over time. Concerning the dipteran early colonizers of carrion, the use of small bait traps should be accurate because the odors emitted from meat baits should contain many of the volatile organic compounds emitted from the freshly dead mammals. In addition, this kind of trap is easy to replicate and set in position in a given habitat. In the present study, small bait preferences of early Diptera carrion colonizers were examined in an urban biotope. Specifically, three baits were compared (pork muscle, pork liver, and fish flavored cat food) in respect to the number of specimens and species captured and the presence or absence of oviposition at high and low environmental temperatures. A total of 2371 specimens were trapped, primarily belonging to three insect orders, Diptera, Coleoptera, and Hymenoptera. Diptera was the predominant order, with blowflies (Calliphoridae) being the most representative family, followed by filth flies (Muscidae). The pork muscle bait was responsible for the highest number of captures and the highest diversity. The community of Diptera collected with the most efficient bait, pork muscle, was compared with the carrion communities reported in the literature from the Iberian Peninsula. Similar taxonomic species composition was found regarding Calliphoridae species. A specimen from all species morphologically identified were also identified at a molecular level using the cytochrome c oxidase I (COI) barcode region, and the sequences were submitted to online databases.

  19. Small Bait Traps as Accurate Predictors of Dipteran Early Colonizers in Forensic Studies

    PubMed Central

    Farinha, Ana; Dourado, Catarina G.; Centeio, Neiva; Oliveira, Ana Rita; Dias, Deodália; Rebelo, Maria Teresa

    2014-01-01

    Insect carrion communities vary among habitats and over time. Concerning the dipteran early colonizers of carrion, the use of small bait traps should be accurate because the odors emitted from meat baits should contain many of the volatile organic compounds emitted from the freshly dead mammals. In addition, this kind of trap is easy to replicate and set in position in a given habitat. In the present study, small bait preferences of early Diptera carrion colonizers were examined in an urban biotope. Specifically, three baits were compared (pork muscle, pork liver, and fish flavored cat food) in respect to the number of specimens and species captured and the presence or absence of oviposition at high and low environmental temperatures. A total of 2371 specimens were trapped, primarily belonging to three insect orders, Diptera, Coleoptera, and Hymenoptera. Diptera was the predominant order, with blowflies (Calliphoridae) being the most representative family, followed by filth flies (Muscidae). The pork muscle bait was responsible for the highest number of captures and the highest diversity. The community of Diptera collected with the most efficient bait, pork muscle, was compared with the carrion communities reported in the literature from the Iberian Peninsula. Similar taxonomic species composition was found regarding Calliphoridae species. A specimen from all species morphologically identified were also identified at a molecular level using the cytochrome c oxidase I (COI) barcode region, and the sequences were submitted to online databases. PMID:25373224

  20. Sensitivity and Specificity of a Novel Classifier for the Early Diagnosis of Dengue

    PubMed Central

    Tuan, Nguyen Minh; Nhan, Ho Thi; Chau, Nguyen Van Vinh; Hung, Nguyen Thanh; Tuan, Ha Manh; Tram, Ta Van; Ha, Nguyen Le Da; Loi, Phan; Quang, Han Khoi; Kien, Duong Thi Hue; Hubbard, Sonya; Chau, Tran Nguyen Bich; Wills, Bridget; Wolbers, Marcel; Simmons, Cameron P.

    2015-01-01

    Background Dengue is the commonest arboviral disease of humans. An early and accurate diagnosis of dengue can support clinical management, surveillance and disease control and is central to achieving the World Health Organisation target of a 50% reduction in dengue case mortality by 2020. Methods 5729 children with fever of <72hrs duration were enrolled into this multicenter prospective study in southern Vietnam between 2010-2012. A composite of gold standard diagnostic tests identified 1692 dengue cases. Using statistical methods, a novel Early Dengue Classifier (EDC) was developed that used patient age, white blood cell count and platelet count to discriminate dengue cases from non-dengue cases. Results The EDC had a sensitivity of 74.8% (95%CI: 73.0-76.8%) and specificity of 76.3% (95%CI: 75.2-77.6%) for the diagnosis of dengue. As an adjunctive test alongside NS1 rapid testing, sensitivity of the composite test was 91.6% (95%CI: 90.4-92.9%). Conclusions We demonstrate that the early diagnosis of dengue can be enhanced beyond the current standard of care using a simple evidence-based algorithm. The results should support patient management and clinical trials of specific therapies. PMID:25836753

  1. Magnetic resonance imaging markers for early diagnosis of Parkinson's disease☆

    PubMed Central

    Marino, Silvia; Ciurleo, Rosella; Di Lorenzo, Giuseppe; Barresi, Marina; De Salvo, Simona; Giacoppo, Sabrina; Bramanti, Alessia; Lanzafame, Pietro; Bramanti, Placido

    2012-01-01

    Parkinson's disease (PD) is a neurodegenerative disorder characterized by selective and progressive degeneration, as well as loss of dopaminergic neurons in the substantia nigra. In PD, approximately 60-70% of nigrostriatal neurons are degenerated and 80% of content of the striatal dopamine is reduced before the diagnosis can be established according to widely accepted clinical diagnostic criteria. This condition describes a stage of disease called “prodromal”, where non-motor symptoms, such as olfactory dysfunction, constipation, rapid eye movement behaviour disorder, depression, precede motor sign of PD. Detection of prodromal phase of PD is becoming an important goal for determining the prognosis and choosing a suitable treatment strategy. In this review, we present some non-invasive instrumental approaches that could be useful to identify patients in the prodromal phase of PD or in an early clinical phase, when the first motor symptoms begin to be apparent. Conventional magnetic resonance imaging (MRI) and advanced MRI techniques, such as magnetic resonance spectroscopy imaging, diffusion-weighted and diffusion tensor imaging and functional MRI, are useful to differentiate early PD with initial motor symptoms from atypical parkinsonian disorders, thus, making easier early diagnosis. Functional MRI and diffusion tensor imaging techniques can show abnormalities in the olfactory system in prodromal PD. PMID:25745453

  2. Genetic testing and early diagnosis and intervention: boon or burden?

    PubMed

    Hepburn, E R

    1996-04-01

    The possibility of early diagnosis and intervention is radically changed by the advent of genetic testing. The recent report of the Nuffield Council on Bioethics is timely and helpful. I have suggested, that not only the severity of the disability indicated by genetic information, and the accuracy of the data, ought to govern the approach to the implementation of screening for genetic disorders. In addition, assessment of the value of the information to those involved should be considered. The efficacy of the available therapeutic measures, combined with the prognostic data are important indices of the value of the information. These measures fall into three categories and thus indicate that three different courses of intervention may be appropriate. Three approaches to diagnosis and intervention are then outlined, drawing on the experience of various clinical initiatives.

  3. Salivaomics - A promising future in early diagnosis of dental diseases

    PubMed Central

    Koneru, Suneetha; Tanikonda, Rambabu

    2014-01-01

    Human saliva plays an important role in the health of the oral cavity and of the body as a whole. Salivary diagnostics is a dynamic and emerging field in the diagnosis of oral and systemic diseases. Saliva reflects the physiologic state of the body, including emotional, endocrinal, nutritional, and metabolic variations. The collection of saliva samples is noninvasive, safe, and inexpensive. Traditional clinical criteria are insufficient for determining sites of active disease, for monitoring the response to therapy, or for measuring the degree of susceptibility to future disease progression. Salivaomics includes five diagnostic alphabets proteins, mRNAs, miRNAs, metabolic compounds, and microbes offering substantial advantages because disease states may be accompanied by detectable changes. Salivaomics, the future of saliva-based techniques for early diagnosis of dental diseases, is promising and may offer a robust alternative for clinicians to use in the near future to make clinical decisions. PMID:24688554

  4. Genetic testing and early diagnosis and intervention: boon or burden?

    PubMed Central

    Hepburn, E R

    1996-01-01

    The possibility of early diagnosis and intervention is radically changed by the advent of genetic testing. The recent report of the Nuffield Council on Bioethics is timely and helpful. I have suggested, that not only the severity of the disability indicated by genetic information, and the accuracy of the data, ought to govern the approach to the implementation of screening for genetic disorders. In addition, assessment of the value of the information to those involved should be considered. The efficacy of the available therapeutic measures, combined with the prognostic data are important indices of the value of the information. These measures fall into three categories and thus indicate that three different courses of intervention may be appropriate. Three approaches to diagnosis and intervention are then outlined, drawing on the experience of various clinical initiatives. PMID:8731537

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

    PubMed Central

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

    2016-01-01

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

  6. Down Syndrome and Dementia: Is Depression a Confounder for Accurate Diagnosis and Treatment?

    ERIC Educational Resources Information Center

    Wark, Stuart; Hussain, Rafat; Parmenter, Trevor

    2014-01-01

    The past century has seen a dramatic improvement in the life expectancy of people with Down syndrome. However, research has shown that individuals with Down syndrome now have an increased likelihood of early onset dementia. They are more likely than their mainstream peers to experience other significant co-morbidities including mental health…

  7. Early diagnosis of complex diseases by molecular biomarkers, network biomarkers, and dynamical network biomarkers.

    PubMed

    Liu, Rui; Wang, Xiangdong; Aihara, Kazuyuki; Chen, Luonan

    2014-05-01

    Many studies have been carried out for early diagnosis of complex diseases by finding accurate and robust biomarkers specific to respective diseases. In particular, recent rapid advance of high-throughput technologies provides unprecedented rich information to characterize various disease genotypes and phenotypes in a global and also dynamical manner, which significantly accelerates the study of biomarkers from both theoretical and clinical perspectives. Traditionally, molecular biomarkers that distinguish disease samples from normal samples are widely adopted in clinical practices due to their ease of data measurement. However, many of them suffer from low coverage and high false-positive rates or high false-negative rates, which seriously limit their further clinical applications. To overcome those difficulties, network biomarkers (or module biomarkers) attract much attention and also achieve better performance because a network (or subnetwork) is considered to be a more robust form to characterize diseases than individual molecules. But, both molecular biomarkers and network biomarkers mainly distinguish disease samples from normal samples, and they generally cannot ensure to identify predisease samples due to their static nature, thereby lacking ability to early diagnosis. Based on nonlinear dynamical theory and complex network theory, a new concept of dynamical network biomarkers (DNBs, or a dynamical network of biomarkers) has been developed, which is different from traditional static approaches, and the DNB is able to distinguish a predisease state from normal and disease states by even a small number of samples, and therefore has great potential to achieve "real" early diagnosis of complex diseases. In this paper, we comprehensively review the recent advances and developments on molecular biomarkers, network biomarkers, and DNBs in particular, focusing on the biomarkers for early diagnosis of complex diseases considering a small number of samples and high

  8. Early diagnosis of diffuse brain damage resulting from a blunt head injury.

    PubMed

    Ogata, Mamoru

    2007-03-01

    Diffuse types of traumatic brain injury (TBI) are more difficult to diagnose than focal types in forensic postmortem examination, since macroscopic abnormalities may be minimal. In addition, most microscopic findings are not specific to TBI and are sometimes not obvious in cases when the survival period is short. Therefore, early diagnosis of diffuse TBI is most difficult. Histopathological and immunohistochemical examinations of various elements including axons, nerve cells, and glial cells in a sufficient number of blocks are indispensable. Mapping of changes in these elements with complicated focal lesions, even if the lesions are trivial, on anatomical diagrams would be useful. The combination of histopathological and immunohistochemical examinations as well as analysis of the exact history of the trauma, if possible, and elimination of other causes of death would lead to accurate diagnosis of diffuse types of TBI in cases when the survival period is brief.

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

    PubMed

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

    1996-05-13

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

  10. Early diagnosis and management of 5 alpha-reductase deficiency.

    PubMed Central

    Odame, I; Donaldson, M D; Wallace, A M; Cochran, W; Smith, P J

    1992-01-01

    Two siblings of Pakistani origin, karyotype 46 XY, were born with predominantly female external genitalia with minute phallus, bifid scrotum, urogenital sinus, and palpable gonads. The older sibling at the age of 8 days showed an adequate testosterone response to human chorionic gonadotrophin (hCG) stimulation. The diagnosis of 5 alpha-reductase deficiency was made at age 6 years when no 5 alpha-reduced glucocorticoid metabolites were detectable in urine even after tetracosactrin (Synacthen) stimulation. In the younger sibling the diagnosis of 5 alpha-reductase deficiency was provisionally made at the early age of 3 days on the basis of high urinary tetrahydrocortisol (THF)/allotetrahydrocortisol (5 alpha-THF) ratio and this ratio increased with age confirming the diagnosis. Plasma testosterone: dihydrotestosterone (DHT) ratio before and after hCG stimulation was within normal limits at age 3 days but was raised at age 9 months. Topical DHT cream application to the external genitalia promoted significant phallic growth in both siblings and in the older sibling corrective surgery was facilitated. In prepubertal male pseudohermaphrodites with normal or raised testosterone concentrations, phallic growth in response to DHT cream treatment could be an indirect confirmation of 5 alpha-reductase deficiency. Images Figure 1 PMID:1626992

  11. Early diagnosis of invasive mould infections and disease.

    PubMed

    Lamoth, Frédéric; Calandra, Thierry

    2017-03-01

    Invasive mould infections (IMIs), such as invasive aspergillosis or mucormycosis, are a major cause of death in patients with haematological cancer and in patients receiving long-term immunosuppressive therapy. Early diagnosis and prompt initiation of antifungal therapy are crucial steps in the management of patients with IMI. The diagnosis of IMI remains a major challenge, with an increased spectrum of fungal pathogens and a diversity of clinical and radiological presentations within the expanding spectrum of immunocompromised hosts. Diagnosis is difficult to establish and is expressed on a scale of probability (proven, probable and possible). Imaging (CT scan), microbiological tools (direct examination, culture, PCR, fungal biomarkers) and histopathology are the pillars of the diagnostic work-up of IMI. None of the currently available diagnostic tests provides sufficient sensitivity and specificity alone, so the optimal approach relies on a combination of multiple diagnostic strategies, including imaging, fungal biomarkers (galactomannan and 1,3-β-d-glucan) and molecular tools. In recent years, the development of PCR for filamentous fungi (primarily Aspergillus or Mucorales) and the progress made in the standardization of fungal PCR technology, may lead to future advances in the field. The appropriate diagnostic approach for IMI should be individualized to each centre, taking into account the local epidemiology of IMI and the availability of diagnostic tests.

  12. Nested polymerase chain reaction for early diagnosis of typhoid fever.

    PubMed

    Sultana, S; Hossain, M A; Alam, M A; Paul, S K; Mahmud, C; Kabir, M R; Haque, N; Yesmin, T; Kayes, M T; Maruf, A A; Kobayashi, N

    2012-01-01

    Typhoid fever, caused by Salmonella typhi, is an important cause of morbidity and mortality in many developing countries. A rapid and sensitive method for the detection of S. typhi is essential for early diagnosis. This was a study to prospectively evaluate the sensitivity and specificity of nested polymerase chain reaction (PCR) to identify the S. typhi using flagellin gene related primers. The study was carried out in the department of Microbiology, Mymensingh Medical College, Mymensingh between July, 2010 and June, 2011, including 82 individuals of different age and sex. Of them, 62 were clinically suspected cases of typhoid fever and remaining 20 were apparently healthy controls. Cultures as well as PCR of blood specimens were performed for each of the cases. Among the 62 suspected typhoid fever cases, 8(12.9%) were blood culture positive and 55(88.7%) were PCR positive for S. typhi. All culture positive cases were positive by PCR and among 54 culture negative cases, 47(87%) were positive by PCR. Neither of the healthy controls was positive by PCR or blood culture. The sensitivity, specificity, positive predictive value and negative predictive value of PCR using blood culture as gold standard were 88.7%, 100%, 100% and 74% respectively for typhoid fever. In this study, the PCR appears highly specific, very sensitive and superior to blood culture for the early diagnosis of typhoid fever.

  13. Spatial-temperature high resolution map for early cancer diagnosis

    NASA Astrophysics Data System (ADS)

    Gavriloaia, Gheorghe V.; Hurduc, Anca; Ghimigean, Ana-Maria; Fumarel, Radu

    2009-02-01

    Heat is one of the most important parameters of living beings. Skin temperature is not the same on the entire body and so, a thermal signature can be got. Infrared map on serial imaging can constitute an early sign of an abnormality. Thermography detects changes in tissue that appear before and accompany many diseases including cancer. As this map has a better resolution an early cancer diagnosis can be done. The temperature of neoplasic tissue is different up to 1.5 °C than that of the healthy tissue as a result of the specific metabolic rate. The infrared camera images show very quickly the heat transferred by radiation. A lot of factors disturb the temperature conversion to pixel intensity. A sensitive temperature sensor with a 10 Mpixels video camera, showing its spatial position, and a computer fusion program were used for the map with high spatial-temperature resolution. A couple of minutes are necessary to get a high resolution map. The asymmetry and borders were the main parameters analyzed. The right cancer diagnosis was for about 78.4% of patients with thyroid cancer, and more than 89.6% from patients with breast cancer. In the near future, the medical prognosis will be improved by fractal analysis.

  14. Early diagnosis and treatment of gastrointestinal neuroendocrine tumors

    PubMed Central

    Shen, Hong; Yu, Zhuo; Zhao, Jing; Li, Xiu-Zhen; Pan, Wen-Sheng

    2016-01-01

    The aim of the present retrospective analysis on the macroscopic appearance and pathological characteristics of gastrointestinal neuroendocrine tumors (NETs) was to investigate methods for their early diagnosis and treatment. A total of 78 patients were divided into submucosal NET and deeper invasion NET groups, according to the depth of tumor invasion exhibited by the patients. The clinicopathological characteristics and survival time of the NET patients were analyzed and compared. The pathological characteristics of the submucosal NETs group were investigated according to the diameter of the tumor (≤5.0 mm, 5.1–10.0 mm or >10.0 mm). The depth of invasion at diagnosis was observed to significantly correlate with histopathological classification, diameter of the tumor, macroscopic appearance, growth pattern, lymphatic-vascular involvement, lymph node (LN) metastasis and distant metastasis. In the submucosal NETs group, high-grade tumors with lymphatic or venule invasion and distant metastasis were associated with an increased risk of nodal metastases. In patients with minute tumors (≤5.0 mm), no lymphatic-vascular involvement, LN or distant metastasis was observed. By contrast, patients with tumors measuring 5.1–10.0 mm in diameter exhibited high lymphatic-vascular involvement and LN metastasis rates (46.2 and 30.8%, respectively). Survival time was significantly longer in patients with submucosal NETs compared with deeper invasion NETs and in patients with NET G1 and NET G2 compared with NEC. The results of the present study indicate that gastrointestinal submucosal NETs are closely associated with a slightly elevated macroscopic type, low-grade tumors and a small diameter. These features may contribute to early diagnosis of gastrointestinal NETs. Therefore, a tumor diameter of <5.0 mm, with slightly elevated macroscopic appearance may indicate an absolute requirement for endoscopic resection, while tumors measuring 5.1–10.0 mm in diameter must be

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

    PubMed

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

    2013-05-01

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

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

    PubMed

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

    2008-07-01

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

  17. Oral cancer. The importance of early diagnosis and treatment.

    PubMed

    Sciubba, J J

    2001-01-01

    Oral cancer is an important health issue. The WHO predicts a continuing worldwide increase in the number of patients with oral cancer, extending this trend well into the next several decades. In the US the projected number of new cases of oral and oropharyngeal cancer will exceed 31,000 per year. Mortality due to cancers in this region exceeds the annual death rate is the US caused by either cutaneous melanoma or cervical cancer. Significant agents involved in the etiology of oral cancer in Western countries include sunlight exposure, smoking and alcohol consumption. Use of the areca or betel nut in many cultures is a major etiological factor outside of the USA. Other etiologic factors associated with oral squamous cell carcinoma, but far less significant statistically, include syphilis and sideropenic dysphagia. Recently, strong evidence for an etiological relationship between human papilloma virus and a subset of head and neck cancers has been noted. It is generally accepted that most sporadic tumors are the result of a multi-step process of accumulated genetic alterations. These alterations affect epithelial cell behavior by way of loss of chromosomal heterozygosity which in turn leads to a series of events progressing to the ultimate stage of invasive squamous cell carcinoma. The corresponding genetic alterations are reflected in clinical and microscopic pathology from hyperplasia through invasiveness. A wide range of mucosal alternations fall within the rubric of leukoplakia. Proliferative verrucous leukoplakia represents a relatively new type of leukoplakia that is separate from the more common or less innocuous form of this condition. Erythroplakia is particularly relevant considering its almost certain relationship with dysplasia or invasive carcinoma. Squamous cell carcinoma will develop from antecedent dysplastic oral mucosal lesions if an early diagnosis has not been made and treatment given. Early diagnosis within stages I and II correspond to a vastly

  18. PSA Isoforms' Velocities for Early Diagnosis of Prostate Cancer.

    PubMed

    Heidegger, Isabel; Klocker, Helmut; Pichler, Renate; Horninger, Wolfgang; Bektic, Jasmin

    2015-06-01

    Free prostate-specific antigen (fPSA) and its molecular isoforms are suggested for enhancement of PSA testing in prostate cancer (PCa). In the present study we evaluated whether PSA isoforms' velocities might serve as a tool to improve early PCa diagnosis. Our study population included 381 men who had undergone at least one ultrasound-guided prostate biopsy whose pathologic examination yielded PCa or showed no evidence of prostatic malignancy. Serial PSA, fPSA, and proPSA measurements were performed on serum samples covering 7 years prior to biopsy using Beckmann Coulter Access immunoassays. Afterwards, velocities of PSA (PSAV), fPSA% (fPSA%V), proPSA% (proPSA%V) and the ratio proPSA/PSA/V were calculated and their ability to discriminate cancer from benign disease was evaluated. Among 381 men included in the study, 202 (53%) were diagnosed with PCa and underwent radical prostatectomy at our Department. PSAV, fPSA%V, proPSA%V as well as proPSA/PSA/V were able to differentiate significantly between PCa and non-cancerous prostate. The highest discriminatory power between cancer and benign disease has been observed two and one year prior to diagnosis with all measured parameters. Among all measured parameters, fPSA%V showed the best cancer specificity of 45.3% with 90% of sensitivity. In summary, our results highlight the value of PSA isoforms' velocity for early detection of PCa. Especially fPSA%V should be used in the clinical setting to increase cancer detection specificity.

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

    PubMed Central

    Lal, Charitharth Vivek; Ambalavanan, Namasivayam

    2015-01-01

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

  20. Laser Raman detection of platelet as a non-invasive approach for early and differential diagnosis of Alzheimer's disease

    NASA Astrophysics Data System (ADS)

    Chen, P.; Tian, Q.; Baek, S. J.; Shang, X. L.; Park, A.; Liu, Z. C.; Yao, X. Q.; Wang, J. Z.; Wang, X. H.; Cheng, Y.; Peng, J.; Shen, A. G.; Hu, J. M.

    2011-07-01

    Early and differential diagnosis of Alzheimer's disease (AD) is a problem that puzzled many doctors. Reliable markers in easy-assembling samples are of considerable clinical diagnostic value. In this work, laser Raman spectroscopy (LRS) was developed a new method that potentially allows early and differential diagnosis of AD from the platelet sample. Raman spectra of platelets isolated from different ages of AD transgenic mice and non-transgenic controls were collected and analyzed. Multilayer perceptron networks (MLP) classification method was used to classify spectra and establish the diagnostic models. For differential diagnosis, spectra of platelets isolated from AD, Parkinson's disease (PD) and vascular dementia (VD) mice were also discriminated. Two notable spectral differences at 740 and 1654 cm-1 were revealed in the mean spectrum of platelets isolated from AD transgenic mice and the controls. MLP displayed a powerful ability in the classifying of early, advanced AD and the control group, and in differential diagnosis of PD and advanced AD, as well as VD and advanced AD. The results suggest that platelet detecting by LRS coupled with MLP analysis appears to be an easy and accurate method for early and differential diagnosis of AD. This technique could be rapidly promoted from laboratory to the hospital.

  1. A Guide to Administration, Diagnosis, and Treatment for the Early and Periodic Screening, Diagnosis, and Treatment Program (EPSDT) Under Medicaid.

    ERIC Educational Resources Information Center

    Hass, Gerald; Scovell, Melvin

    Provided are guidelines on administration, diagnosis, and treatment in federally funded EPSDT--Early and Periodic Screening, Diagnosis, and Treatment Programs, a system for providing health care services to Medicaid-eligible children. Detailed in part one are factors involved in developing EPSDT programs. Four chapters consider the need for EPSDT,…

  2. Computer-aided diagnosis of early knee osteoarthritis based on MRI T2 mapping.

    PubMed

    Wu, Yixiao; Yang, Ran; Jia, Sen; Li, Zhanjun; Zhou, Zhiyang; Lou, Ting

    2014-01-01

    This work was aimed at studying the method of computer-aided diagnosis of early knee OA (OA: osteoarthritis). Based on the technique of MRI (MRI: Magnetic Resonance Imaging) T2 Mapping, through computer image processing, feature extraction, calculation and analysis via constructing a classifier, an effective computer-aided diagnosis method for knee OA was created to assist doctors in their accurate, timely and convenient detection of potential risk of OA. In order to evaluate this method, a total of 1380 data from the MRI images of 46 samples of knee joints were collected. These data were then modeled through linear regression on an offline general platform by the use of the ImageJ software, and a map of the physical parameter T2 was reconstructed. After the image processing, the T2 values of ten regions in the WORMS (WORMS: Whole-organ Magnetic Resonance Imaging Score) areas of the articular cartilage were extracted to be used as the eigenvalues in data mining. Then,a RBF (RBF: Radical Basis Function) network classifier was built to classify and identify the collected data. The classifier exhibited a final identification accuracy of 75%, indicating a good result of assisting diagnosis. Since the knee OA classifier constituted by a weights-directly-determined RBF neural network didn't require any iteration, our results demonstrated that the optimal weights, appropriate center and variance could be yielded through simple procedures. Furthermore, the accuracy for both the training samples and the testing samples from the normal group could reach 100%. Finally, the classifier was superior both in time efficiency and classification performance to the frequently used classifiers based on iterative learning. Thus it was suitable to be used as an aid to computer-aided diagnosis of early knee OA.

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

    PubMed

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

    2014-12-01

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

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

    PubMed

    Akperova, G A

    2014-11-01

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

  5. A blood-based, 7-metabolite signature for the early diagnosis of Alzheimer's disease.

    PubMed

    Olazarán, Javier; Gil-de-Gómez, Luis; Rodríguez-Martín, Andrés; Valentí-Soler, Meritxell; Frades-Payo, Belén; Marín-Muñoz, Juan; Antúnez, Carmen; Frank-García, Ana; Acedo-Jiménez, Carmen; Morlán-Gracia, Lorenzo; Petidier-Torregrossa, Roberto; Guisasola, María Concepción; Bermejo-Pareja, Félix; Sánchez-Ferro, Álvaro; Pérez-Martínez, David A; Manzano-Palomo, Sagrario; Farquhar, Ruth; Rábano, Alberto; Calero, Miguel

    2015-01-01

    Accurate blood-based biomarkers of Alzheimer's disease (AD) could constitute simple, inexpensive, and non-invasive tools for the early diagnosis and treatment of this devastating neurodegenerative disease. We sought to develop a robust AD biomarker panel by identifying alterations in plasma metabolites that persist throughout the continuum of AD pathophysiology. Using a multicenter, cross-sectional study design, we based our analysis on metabolites whose levels were altered both in AD patients and in patients with amnestic mild cognitive impairment (aMCI), the earliest identifiable stage of AD. UPLC coupled to mass spectrometry was used to independently compare the levels of 495 plasma metabolites in aMCI (n = 58) and AD (n = 100) patients with those of normal cognition controls (NC, n = 93). Metabolite alterations common to both aMCI and AD patients were used to generate a logistic regression model that accurately distinguished AD from NC patients. The final panel consisted of seven metabolites: three amino acids (glutamic acid, alanine, and aspartic acid), one non-esterified fatty acid (22:6n-3, DHA), one bile acid (deoxycholic acid), one phosphatidylethanolamine [PE(36:4)], and one sphingomyelin [SM(39:1)]. Detailed analysis ruled out the influence of potential confounding variables, including comorbidities and treatments, on each of the seven biomarkers. The final model accurately distinguished AD from NC patients (AUC, 0.918). Importantly, the model also distinguished aMCI from NC patients (AUC, 0.826), indicating its potential diagnostic utility in early disease stages. These findings describe a sensitive biomarker panel that may facilitate the specific detection of early-stage AD through the analysis of plasma samples.

  6. Sonographic markers for early diagnosis of fetal malformations

    PubMed Central

    Renna, Maria Daniela; Pisani, Paola; Conversano, Francesco; Perrone, Emanuele; Casciaro, Ernesto; Renzo, Gian Carlo Di; Paola, Marco Di; Perrone, Antonio; Casciaro, Sergio

    2013-01-01

    Fetal malformations are very frequent in industrialized countries. Although advanced maternal age may affect pregnancy outcome adversely, 80%-90% of fetal malformations occur in the absence of a specific risk factor for parents. The only effective approach for prenatal screening is currently represented by an ultrasound scan. However, ultrasound methods present two important limitations: the substantial absence of quantitative parameters and the dependence on the sonographer experience. In recent years, together with the improvement in transducer technology, quantitative and objective sonographic markers highly predictive of fetal malformations have been developed. These markers can be detected at early gestation (11-14 wk) and generally are not pathological in themselves but have an increased incidence in abnormal fetuses. Thus, prenatal ultrasonography during the second trimester of gestation provides a “genetic sonogram”, including, for instance, nuchal translucency, short humeral length, echogenic bowel, echogenic intracardiac focus and choroid plexus cyst, that is used to identify morphological features of fetal Down’s syndrome with a potential sensitivity of more than 90%. Other specific and sensitive markers can be seen in the case of cardiac defects and skeletal anomalies. In the future, sonographic markers could limit even more the use of invasive and dangerous techniques of prenatal diagnosis (amniocentesis, etc.). PMID:24179631

  7. Early Oscillation Detection for DC/DC Converter Fault Diagnosis

    NASA Technical Reports Server (NTRS)

    Wang, Bright L.

    2011-01-01

    The electrical power system of a spacecraft plays a very critical role for space mission success. Such a modern power system may contain numerous hybrid DC/DC converters both inside the power system electronics (PSE) units and onboard most of the flight electronics modules. One of the faulty conditions for DC/DC converter that poses serious threats to mission safety is the random occurrence of oscillation related to inherent instability characteristics of the DC/DC converters and design deficiency of the power systems. To ensure the highest reliability of the power system, oscillations in any form shall be promptly detected during part level testing, system integration tests, flight health monitoring, and on-board fault diagnosis. The popular gain/phase margin analysis method is capable of predicting stability levels of DC/DC converters, but it is limited only to verification of designs and to part-level testing on some of the models. This method has to inject noise signals into the control loop circuitry as required, thus, interrupts the DC/DC converter's normal operation and increases risks of degrading and damaging the flight unit. A novel technique to detect oscillations at early stage for flight hybrid DC/DC converters was developed.

  8. Highly Accurate Antibody Assays for Early and Rapid Detection of Tuberculosis in African and Asian Elephants

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Tuberculosis (TB) in elephants is a re-emerging zoonotic disease caused primarily by Mycobacterium tuberculosis. Current methods for screening and diagnosis rely on trunk wash culture, which has serious limitations due to low test sensitivity, slow turn-around time, and variable sample quality. Inn...

  9. Integrated Development of Serum Molecular Markers for Early Diagnosis of Breast Cancer

    DTIC Science & Technology

    2006-09-01

    Molecular Makers for Early Diagnosis of Breast Cancer PRINCIPAL INVESTIGATOR: Anna Lokshin, Ph.D. CONTRACTING ORGANIZATION: University of...NUMBER Integrated Development of Serum Molecular Makers for Early Diagnosis of Breast Cancer 5b. GRANT NUMBER DAMD17-03-1-0696 5c. PROGRAM...Therefore, studies at this stage involve screening people and lead to diagnosis and treatment. The aims of this phase include assessment of (i) the

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

    PubMed

    Mostafavi, Ehsan; Pourhossein, Behzad; Chinikar, Sadegh

    2014-07-01

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

  11. Early diagnosis of acute myocardial infarction using high-sensitivity troponin I

    PubMed Central

    Ojeda, Francisco; Renné, Thomas; Schnabel, Renate B.; Zeller, Tanja; Karakas, Mahir; Blankenberg, Stefan; Westermann, Dirk

    2017-01-01

    Objective There is a clinical need for early and accurate diagnosis of acute myocardial infarction (AMI). Current European Society of Cardiology (ESC) guidelines recommend diagnosis of non-ST-elevation AMI based on serial troponin measurements. We aimed to challenge the ESC guidelines using 1) a high-sensitivity troponin I (hs-TnI) baseline cutoff, 2) an absolute hs-TnI change after 1 hour and 3) additional application of an ischemic ECG. Methods 1,516 patients with suspected AMI presenting to the emergency department were included. Hs-TnI was measured directly at admission, after 1 and 3 hours. We investigated baseline concentrations, absolute changes of hs-TnI and additional application of an ischemic ECG to diagnose AMI. A positive predictive value (PPV) of more than 85% was targeted. Results The median age of the study population was 65 years; 291 patients were diagnosed with AMI. The PPV of the 3-hours ESC algorithm was 85.5% (CI 79.7, 90.1) and 65.8% (CI 60.5,70.8) for the 1-hour algorithm. Using a high baseline hs-TnI concentration of 150 ng/L resulted in a PPV of 87.8% (CI 80.9,92.9). Alternatively, a hs-TnI change of 20 ng/L after 1 hour, resulted in a PPV of 86.5% (80.9,91.0), respectively for the diagnosis of AMI. Additional use of an ischemic ECG increased the PPV to 90.5% (CI 83.2,95.3), while reducing the efficacy. Conclusion The diagnosis of AMI based on hs-TnI is challenging. The application of absolute hs-TnI changes after 1 hour may facilitate rapid rule-in of patients. Trial registration www.clinicaltrials.gov (NCT02355457). PMID:28333976

  12. [Vojta's method as the early neurodevelopmental diagnosis and therapy concept].

    PubMed

    Banaszek, Grazyna

    2010-01-01

    Vaclav Vojta (1917-2000) developed an early diagnostic method of the neurodevelopmental disorder of infants and came up with therapeutic concept consisting in releasing of global motor complexes by means of the stimulation of proper areas on patients body. In the diagnostics apart from very careful observation of the spontaneous movement of the infant and examination of the reflexes that are characteristic for the first weeks of human's life, Vojta applied the examination of the 7 postural reactions. Presence of the trouble in patterns and dynamics of the postural reactions Vojta called Central Nervous Coordination Disorder--CNCD and regarded as work diagnosis or alarm signal indicating necessity of application of the therapy, especially when asymmetry of the muscle tone and primitive reflexes beyond their physiological appearance period are observed or the number of the abnormal reactions exceeds 5. Global motor complexes as reflex locomotion--crawling and rotation--consist of all the partial motion patterns, which are gradually used by healthy infant in the process of postural and motor ontogenesis. Providing the central nervous system with proper external stimulation allows to, using neuronal plasticity, recreate an access to the human's postural development program and gradually replace pathological motor patterns by those more regular. Exercises repeated several times a day rebuilt support, erectile and vertical mechanisms, improve automatic postural control and phase lower limb movement. Affecting especially on autochtonic muscles of the spine exercises balance synergic cooperation of muscle groups in the trunk and those surrounding key body joints. This way they correct body's posture and peripheral motion and pathology of the outlasted primitive reflexes gradually withdraws.

  13. Highly-accurate metabolomic detection of early-stage ovarian cancer

    PubMed Central

    Gaul, David A.; Mezencev, Roman; Long, Tran Q.; Jones, Christina M.; Benigno, Benedict B.; Gray, Alexander; Fernández, Facundo M.; McDonald, John F.

    2015-01-01

    High performance mass spectrometry was employed to interrogate the serum metabolome of early-stage ovarian cancer (OC) patients and age-matched control women. The resulting spectral features were used to establish a linear support vector machine (SVM) model of sixteen diagnostic metabolites that are able to identify early-stage OC with 100% accuracy in our patient cohort. The results provide evidence for the importance of lipid and fatty acid metabolism in OC and serve as the foundation of a clinically significant diagnostic test. PMID:26573008

  14. Of Needles and Haystacks: Building an Accurate Statewide Dropout Early Warning System in Wisconsin

    ERIC Educational Resources Information Center

    Knowles, Jared E.

    2015-01-01

    The state of Wisconsin has one of the highest four year graduation rates in the nation, but deep disparities among student subgroups remain. To address this the state has created the Wisconsin Dropout Early Warning System (DEWS), a predictive model of student dropout risk for students in grades six through nine. The Wisconsin DEWS is in use…

  15. Leptospirosis diagnosis by immunocapture polymerase chain reaction: a new tool for early diagnosis and epidemiologic surveillance.

    PubMed

    Balassiano, Ilana Teruszkin; Vital-Brazil, Juliana Magalhães; Pereira, Martha Maria

    2012-09-01

    The aim of this study was to develop an immunocapture polymerase chain reaction (IC-PCR) protocol for leptospirosis. For the standardization of IC-PCR, polyclonal (AS) and monoclonal (MAb) antibodies against different serogroups and serovars of Leptospira were coupled to polystyrene plates. Human sera were artificially contaminated with leptospires and incubated on plates. The bacterial DNA was obtained and used in a multiplex PCR. Sensitivity was tested using sera contaminated with crescent concentrations of leptospires, while specificity was established using sera contaminated with different bacterial genera and sera obtained from patients positive for viral infections. IC-PCR using AS was able to recognize specific serogroups, although some cross-reactions have been observed. No cross-reactions were observed when MAbs were used; however, the sensitivity in this case was lower than that of IC-PCR using AS. IC-PCR proved to be specific to Leptospira and is a promising tool for early diagnosis of leptospirosis, providing additional information about the infecting serovar or serogroup.

  16. The role of neuroimaging in the early diagnosis and evaluation of Parkinson's disease.

    PubMed

    Seibyl, J; Jennings, D; Tabamo, R; Marek, K

    2005-10-01

    The development of imaging biomarkers which target specific sites in the brain represents a significant advance in neurodegenerative diseases and Parkinson's disease with the promise of new and improved approaches for the early and accurate diagnosis of disease as well as novel ways to monitor patients and assess treatment. The 3 major applications of imaging may play a role in Parkinson's disease include: 1) the use of neuroimaging as a biomarker of disease in order to improve the accuracy, timeliness, and reliability of diagnosis; 2) objective monitoring of the progression of disease to provide a molecular phenotype of Parkinson's disease which may illuminate some of the sources of clinical variability; 3) the evaluation of so-called ''disease-modifying'' treatments designed to retard the progression of disease by interfering with pathways thought implicated in the ongoing neuronal loss or replace dopamine-producing cells. Each of these areas has shown a numbers of critical clinical investigations which have better defined the utility of the imaging tools to these tasks. Nonetheless, current unresolved issues around the clinical role of neuroimaging in monitoring patients over time and validation of quantitative imaging measures of dopaminergic function are immediate issues for the field and the subject of current research efforts and the extension of the lessons learned in Parkinson's to other neurodegenerative diseases including Alzheimer's dementia.

  17. Endoscopic Ultrasound Does Not Accurately Stage Early Adenocarcinoma or High-Grade Dysplasia of the Esophagus

    DTIC Science & Technology

    2010-01-01

    MeSH search terms: " endoscopic ultrasound," "Barrett’s esophagus ," "adeno· carcinoma," "Barrett’s esophagus and high grade dyspla.c;ia...adenocarcinoma of the esophagus ; EMR, endoscopic mucosal resection; EUS, endoscopic ul- trasound; HGD, high-grade dysplasia. <D 2010 by the AGA Institute... esophagus and early adenocarcinoma found EUS examination to have perfecr accuracy for differentiating Tl CLINICAL GASTROENTEROLOGY AND HEPATOLOGY Vol

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

    PubMed

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

    2016-06-01

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

  19. [Contribution to the early diagnosis of bacteremia: microbial growth detection in liquid culture media by ultrasound].

    PubMed

    Maestre, J R; Montero de Espinosa, F R

    2001-04-01

    Nosocomial infection is an important problem because the number of patients daily affected in big hospitals. A big effort exists to develop techniques able to early detect the micro-organisms which cause the infection. The ultrasound is a mechanical radiology technique widely used in Medicine for diagnosis and therapy. It is also well known that this radiation can be used to control relative changes of several physico-chemical parameters in liquids. As an example, the velocity an attenuation of acoustic waves coming through a liquid can be accurately measured. The developed technique consists of an ultrasonic chamber immersed into a thermostatized water bath with two transducers operating in through-transmission. Different culture bottles were placed in between the transducers to live the ultrasound to come across the sample. Several micro-organisms with controlled concentrations, chosen between the most common in sepsis clinical, were used to inoculate each bottle. In the case of aerobic metabolism, the carbon dioxide gas produced by bacteria introduce elastic changes into the liquid which modify both the propagation velocity and the attenuation of the ultrasound. The continuous monitoring of the time-of-flight and the amplitude of an ultrasonic pulse coming through the sample give us a clear indication of the metabolism process. The signatures observed permits the identification of algorithms to early define the positive cases. The developed technique is faster than other commercial systems. The intrinsically non-invasive characteristic of the ultrasound and the relative cheapness of the technique open new attractive possibilities in microbiological diagnosis.

  20. Early Diagnosis and Management of Acute Vertigo from Vestibular Migraine and Ménière's Disease.

    PubMed

    Seemungal, Barry; Kaski, Diego; Lopez-Escamez, Jose Antonio

    2015-08-01

    Vestibular migraine is the most common cause of acute episodic vestibular symptoms after benign paroxysmal positional vertigo. In contrast, Ménière's disease is an uncommon disorder. For both conditions, early and accurate diagnosis (or its exclusion) enables the correct management of patients with acute episodic vestibular symptoms. Long-term management of migraine requires changes in lifestyle to avoid triggers of migraine and/or prophylactic drugs if attacks become too frequent. The long-term management of Ménière's disease also involves lifestyle changes (low salt diet), medications (betahistine, steroids), and ablative therapy applied to the diseased ear (eg, intratympanic gentamicin).

  1. Pollen from accurately dated speleothems supports alpine glacier low-stands during the early Holocene

    NASA Astrophysics Data System (ADS)

    Festi, Daniela; Hoffmann, Dirk L.; Luetscher, Marc

    2016-07-01

    Deciphering pollen assemblages from alpine speleothems holds potential to provide unique information about past vegetation in rapidly changing environments. Here, we reconstruct subsurface aerosol transport at Milchbach cave (Switzerland, 1840 m asl) based on the pollen content of two Holocene stalagmites. We demonstrate that pollen is chiefly associated with bacterially mediated calcite fabrics, typical of a well-ventilated cave system. In contrast, pollen is absent from columnar calcite fabrics confirming that hydrological transport is not a significant process for the incorporation of pollen into speleothems at Milchbach cave. Our results support significant changes in the subsurface ventilation regime, which can be associated with the waxing and waning of Upper Grindelwald glacier. Pollen assemblages obtained from six carbonate sub-samples attest the presence of a mixed deciduous forest in the Grindelwald valley during the early and middle Holocene, in agreement with coeval regional pollen records. This study demonstrates that even small amounts of calcite (0.3-2.8 cm3) are capable of delivering pollen spectra representative of the original vegetation if sufficiently elevated deposition fluxes are provided.

  2. Accurate early-time and late-time modeling of countercurrent spontaneous imbibition

    NASA Astrophysics Data System (ADS)

    March, Rafael; Doster, Florian; Geiger, Sebastian

    2016-08-01

    Spontaneous countercurrent imbibition into a finite porous medium is an important physical mechanism for many applications, included but not limited to irrigation, CO2 storage, and oil recovery. Symmetry considerations that are often valid in fractured porous media allow us to study the process in a one-dimensional domain. In 1-D, for incompressible fluids and homogeneous rocks, the onset of imbibition can be captured by self-similar solutions and the imbibed volume scales with √t. At later times, the imbibition rate decreases and the finite size of the medium has to be taken into account. This requires numerical solutions. Here we present a new approach to approximate the whole imbibition process semianalytically. The onset is captured by a semianalytical solution. We also provide an a priori estimate of the time until which the imbibed volume scales with √t. This time is significantly longer than the time it takes until the imbibition front reaches the model boundary. The remainder of the imbibition process is obtained from a self-similarity solution. We test our approach against numerical solutions that employ parametrizations relevant for oil recovery and CO2 sequestration. We show that this concept improves common first-order approaches that heavily underestimate early-time behavior and note that it can be readily included into dual-porosity models.

  3. Prenatal Diagnosis: Current Procedures and Implications for Early Interventionists Working with Families.

    ERIC Educational Resources Information Center

    Blasco, Patricia M.; And Others

    1994-01-01

    This article provides an overview of procedures commonly used in prenatal screening and diagnosis including ultrasound, amniocentesis, chorionic villus biopsy, maternal serum alpha-fetoprotein, and deoxyribonucleic acid (DNA) analysis. Emphasis is on the role of the early interventionist in supporting families during prenatal diagnosis. (Author/DB)

  4. A Proposed Framework for the Implementation of Early Infant Diagnosis Point-of-Care

    PubMed Central

    Modi, Surbhi; Hurlston, Mackenzie; Beard, R. Suzanne; Nkengasong, John N.

    2017-01-01

    Abstract Early diagnosis of HIV infection in infants and children remains a challenge in resource-limited settings, with approximately half of all HIV-exposed infants receiving virological testing for HIV by the recommended age of 2 months in 2015. To reduce morbidity and mortality among HIV-infected children and close the treatment gap for HIV-infected children, there is an urgent need to evaluate existing programmatic and laboratory practices for early infant diagnosis and introduce strategies to improve identification of HIV-exposed infants and ensure access to systematic, early HIV testing, with early linkage to treatment for HIV-infected infants. This article describes progress made in follow-up of HIV-exposed infants since 2006, including remaining unmet laboratory and programmatic needs, and recommends strategies for improvement, especially those related to the implementation of point-of-care technology for early infant diagnosis. PMID:27758117

  5. An EEG-Based Fuzzy Probability Model for Early Diagnosis of Alzheimer's Disease.

    PubMed

    Chiang, Hsiu-Sen; Pao, Shun-Chi

    2016-05-01

    Alzheimer's disease is a degenerative brain disease that results in cardinal memory deterioration and significant cognitive impairments. The early treatment of Alzheimer's disease can significantly reduce deterioration. Early diagnosis is difficult, and early symptoms are frequently overlooked. While much of the literature focuses on disease detection, the use of electroencephalography (EEG) in Alzheimer's diagnosis has received relatively little attention. This study combines the fuzzy and associative Petri net methodologies to develop a model for the effective and objective detection of Alzheimer's disease. Differences in EEG patterns between normal subjects and Alzheimer patients are used to establish prediction criteria for Alzheimer's disease, potentially providing physicians with a reference for early diagnosis, allowing for early action to delay the disease progression.

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

    PubMed

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

    2016-10-01

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

  7. Integrated proteo-genomic approach for early diagnosis and prognosis of cancer.

    PubMed

    Shukla, Hem D; Mahmood, Javed; Vujaskovic, Zeljko

    2015-12-01

    Cancer is the leading cause of mortality among men and women worldwide. Despite the availability of numerous diagnostic techniques for various cancers, the overall survival rate remains low and the majority of patients die due to late diagnosis and advanced stage of the disease. Diagnosing and treating cancer at its early stages ideally during the precancerous phase could significantly increase survival rate with the possibility of cure and prolong survival. Cancer is a genetic disease and it is illicitly activated by the acquisition of somatic DNA lesions and aberrations in genome structure and defects in maintenance and repair. These somatic DNA mutations known as driver mutations seem to be the prime cause in initiating tumorigenesis. The advances in genomic technologies have immensely facilitated the understanding of cancer progression and metastasis, and the discovery of novel biomarkers. However, changes in somatic mutational landscape of the oncogenome are translated into aberrantly regulated oncoproteome which drives the cancer initiation. Thus, combination of proteomic and genomic technologies is urgently required to discover biomarkers for early diagnosis. The recent advances in human genome based detection of cancer using advanced genomic technologies like NextGen Sequencing, digital PCR, cfDNA technology have shown promise; for example oncogenic somatic mutation variants, transcriptomic analysis, copy number variant, and methylation data from the Cancer Genome Atlas. Similarly, oncoproteomics has the potential to revolutionize clinical management of the disease, including cancer diagnosis and screening based on new proteomic database which embodies somatic variants and post translational modifications, thus devising proteomic technologies as a complement to histopathology. Further, the use of multiple proteomic and genomic biomarkers rather than a single gene or protein could greatly improve diagnostic accuracy and enhance the predictive power for

  8. Differences in the Association between Segment and Language: Early Bilinguals Pattern with Monolinguals and Are Less Accurate than Late Bilinguals

    PubMed Central

    Blanco, Cynthia P.; Bannard, Colin; Smiljanic, Rajka

    2016-01-01

    Early bilinguals often show as much sensitivity to L2-specific contrasts as monolingual speakers of the L2, but most work on cross-language speech perception has focused on isolated segments, and typically only on neighboring vowels or stop contrasts. In tasks that include sounds in context, listeners’ success is more variable, so segment discrimination in isolation may not adequately represent the phonetic detail in stored representations. The current study explores the relationship between language experience and sensitivity to segmental cues in context by comparing the categorization patterns of monolingual English listeners and early and late Spanish–English bilinguals. Participants categorized nonce words containing different classes of English- and Spanish-specific sounds as being more English-like or more Spanish-like; target segments included phonemic cues, cues for which there is no analogous sound in the other language, or phonetic cues, cues for which English and Spanish share the category but for which each language varies in its phonetic implementation. Listeners’ language categorization accuracy and reaction times were analyzed. Our results reveal a largely uniform categorization pattern across listener groups: Spanish cues were categorized more accurately than English cues, and phonemic cues were easier for listeners to categorize than phonetic cues. There were no differences in the sensitivity of monolinguals and early bilinguals to language-specific cues, suggesting that the early bilinguals’ exposure to Spanish did not fundamentally change their representations of English phonology. However, neither did the early bilinguals show more sensitivity than the monolinguals to Spanish sounds. The late bilinguals however, were significantly more accurate than either of the other groups. These findings indicate that listeners with varying exposure to English and Spanish are able to use language-specific cues in a nonce-word language categorization

  9. Genetic Identification Is Critical for the Diagnosis of Parkinsonism: A Chinese Pedigree with Early Onset of Parkinsonism

    PubMed Central

    Yang, Yang; Tang, Bei-sha; Weng, Ling; Li, Nan; Shen, Lu; Wang, Jian; Zuo, Chuan-tao; Yan, Xin-xiang; Xia, Kun; Guo, Ji-feng

    2015-01-01

    Background A number of hereditary neurological diseases display indistinguishable features at the early disease stage. Parkinsonian symptoms can be found in numerous diseases, making it difficult to get a definitive early diagnosis of primary causes for patients with onset of parkinsonism. The accurate and early diagnosis of the causes of parkinsonian patients is important for effective treatments of these patients. Methods We have identified a Chinese family (82 family members over four generations with 21 affected individuals) that manifested the characterized symptoms of parkinsonism and was initially diagnosed as Parkinson’s disease. We followed up with the family for two years, during which we carried out clinical observations, Positron Emission Tomography-Computed Tomography neuroimaging analysis, and exome sequencing to correctly diagnose the case. Results During the two-year follow-up period, we performed comprehensive medical history collection, physical examination, and structural and functional neuroimaging studies of this Chinese family. We found that the patient exhibited progressive deteriorated parkinsonism with Parkinson disease-like neuropathology and also had a good response to the initial levodopa treatment. However, exome sequencing identified a missense mutation, N279K, in exon 10 of MAPT gene, verifying that the early parkinsonian symptoms in this family are caused by the genetic mutation for hereditary frontotemporal lobar dementia. Conclusions For the inherited parkinsonian patients who even show the neuropathology similar to that in Parkinson’s disease and have initial response to levodopa treatment, genetic identification of the molecular basis for the disease is still required for defining the early diagnosis and correct treatment. PMID:26295349

  10. [Lugol's solution in endoscopic diagnosis of early esophageal cancer].

    PubMed

    Wang, G; Zhou, M; Cong, Q

    1995-07-01

    About 1500 high-risk subjects of esophageal cancer were found during screening by balloon cytology and all of them were examined endoscopically. Among them, 120 were considered as having early esophageal cancer and precancerous lesions. During the examination, Lugol's solution staining was used and guiding biopsy was taken. 98 subjects with unstained lesions were found, and biopsy showed early esophageal cancer in 60 (61.2%) and moderate and severe dysplasia in 38 (38.8%). It is usually extremely difficult to detect and localize the very early esophageal mucosal and submucosal carcinoma. But endoscopic examination and using Lugol's solution staining with multiple spots biopsy from unstained area are of great assistance. Minute malignant lesions may not be overlooked.

  11. Development and validation of an HPLC-MS/MS method for the early diagnosis of aspergillosis.

    PubMed

    Cerqueira, Letícia B; de Francisco, Thais M G; Gasparetto, João C; Campos, Francinete R; Pontarolo, Roberto

    2014-01-01

    Invasive aspergillosis is an opportunistic infection that is mainly caused by Aspergillus fumigatus, which is known to produce several secondary metabolites, including gliotoxin, the most abundant metabolite produced during hyphal growth. The diagnosis of invasive aspergillosis is often made late in the infection because of the lack of reliable and feasible diagnostic techniques; therefore, early detection is critical to begin treatment and avoid more serious complications. The present work reports the development and validation of an HPLC-MS/MS method for the detection of gliotoxin in the serum of patients with suspected aspergillosis. Chromatographic separation was achieved using an XBridge C18 column (150 × 2.1 mm id; 5 mm particle size) maintained at 25 °C with the corresponding guard column (XBridge C18, 10 × 2.1 mm id, 5 mm particle size). The mobile phase was composed of a gradient of water and acetonitrile/water (95:5 v/v), both containing 1 mM ammonium formate with a flow rate of 0.45 mL min(-1). Data from the validation studies demonstrate that this new method is highly sensitive, selective, linear, precise, accurate and free from matrix interference. The developed method was successfully applied to samples from patients suspected of having aspergillosis. Therefore, the developed method has considerable potential as a diagnostic technique for aspergillosis.

  12. Electro-Oculograms in the Early Diagnosis of Chloroquine Retinopathy

    PubMed Central

    Weinreb, Marvin S.

    1967-01-01

    Funduscopy, electro-oculography and electroretinography are all valuable in early detection of chloroquine retinopathy, which is reversible if detected early. Simplified instrumentation for electro-oculography was utilized in testing 12 normal controls, one patient with diabetic retinopathy and 15 patients with potential or actual cases of chloroquine retinopathy. Normal controls, and all but one of the patients without clinical evidence of retinopathy, had electro-oculographic ratios above 180. All patients having evidence of retinopathy had ratios below 180. ImagesFigure 1.Figure 2. PMID:6039185

  13. Multiparametric and Multimodality Functional Radiological Imaging for Breast Cancer Diagnosis and Early Treatment Response Assessment

    PubMed Central

    Wolff, Antonio C.; Macura, Katarzyna J.; Stearns, Vered; Ouwerkerk, Ronald; El Khouli, Riham; Bluemke, David A.; Wahl, Richard

    2015-01-01

    Breast cancer is the second leading cause of cancer death among US women, and the chance of a woman developing breast cancer sometime during her lifetime is one in eight. Early detection and diagnosis to allow appropriate locoregional and systemic treatment are key to improve the odds of surviving its diagnosis. Emerging data also suggest that different breast cancer subtypes (phenotypes) may respond differently to available adjuvant therapies. There is a growing understanding that not all patients benefit equally from systemic therapies, and therapeutic approaches are being increasingly personalized based on predictive biomarkers of clinical benefit. Optimal use of established and novel radiological imaging methods, such as magnetic resonance imaging and positron emission tomography, which have different biophysical mechanisms can simultaneously identify key functional parameters. These methods provide unique multiparametric radiological signatures of breast cancer, that will improve the accuracy of early diagnosis, help select appropriate therapies for early stage disease, and allow early assessment of therapeutic benefit. PMID:26063885

  14. Multiparametric and Multimodality Functional Radiological Imaging for Breast Cancer Diagnosis and Early Treatment Response Assessment.

    PubMed

    Jacobs, Michael A; Wolff, Antonio C; Macura, Katarzyna J; Stearns, Vered; Ouwerkerk, Ronald; El Khouli, Riham; Bluemke, David A; Wahl, Richard

    2015-05-01

    Breast cancer is the second leading cause of cancer death among US women, and the chance of a woman developing breast cancer sometime during her lifetime is one in eight. Early detection and diagnosis to allow appropriate locoregional and systemic treatment are key to improve the odds of surviving its diagnosis. Emerging data also suggest that different breast cancer subtypes (phenotypes) may respond differently to available adjuvant therapies. There is a growing understanding that not all patients benefit equally from systemic therapies, and therapeutic approaches are being increasingly personalized based on predictive biomarkers of clinical benefit. Optimal use of established and novel radiological imaging methods, such as magnetic resonance imaging and positron emission tomography, which have different biophysical mechanisms can simultaneously identify key functional parameters. These methods provide unique multiparametric radiological signatures of breast cancer, that will improve the accuracy of early diagnosis, help select appropriate therapies for early stage disease, and allow early assessment of therapeutic benefit.

  15. Early lipoedema diagnosis and the RCGP e-learning course.

    PubMed

    Fetzer, Amy; Fetzer, Sharie

    2015-04-01

    Frequently misdiagnosed as obesity, lipoedema is chronic condition involving an abnormal build-up of fat cells in the legs, thighs and buttocks that cannot be shifted by exercise or dieting. Estimated to affect up to 11% of the female population, the condition is widely unknown by health professionals. This means women typically wait for many years before diagnosis. This allows the condition to progress unchecked, resulting in unnecessary deterioration and the development of associated comorbidities, as well as significant pain and mental anguish. A free, 30-minute Royal College of General Practitioners (RCGP) e-learning course created in partnership with Lipoedema UK aims to rectify this situation by educating nurses, GPs and other health professionals on how to diagnose and manage lipoedema in primary care. This article aims to describe the condition of lipoedema, how to recognise/diagnose it, current treatment options and the findings of a 240-patient survey carried out by Lipoedema UK in 2013 that included documenting the difficulties for patients in obtaining a diagnosis as well as the mental and physical effects of the condition.

  16. Early diagnosis of diabetic retinopathy in primary care

    PubMed Central

    Jimenez-Baez, Maria Valeria; Barcenas-Contreras, Rodolfo; Morales Montoya, Carlos; Espinosa-Garcia, Laura Fatima

    2015-01-01

    Objective: To evaluate the impact of a strategy for early detection of diabetic retinopathy in patients with type 2 diabetes mellitus (DMT2) in Quintana Roo, México. Methods: Study transversal, observational, prospective, analytical, eight primary care units from Mexican Social Security Institute in the northern delegation of the State of Quintana Roo, Mexico were included. A program for early detection of diabetic retinopathy (DR) in adult 376,169 was designed. Were diagnosed 683 cases of type 2 diabetes, in 105 patients randomized was conducted to direct ophthalmoscopy were subjected to a secondary hospital were assigned. Will determine the degree of diabetic retinopathy and macular edema was performed. Results: In population were 55.2% female, mean age 48+11.1 years, 23.8 % had some degree of DR, 28.0% with mild non- proliferative diabetic retinopathy 48.0 % moderate 16.0% and severe and 8.0% showed proliferative diabetic retinopathy. Those over age 30 are 2.8 times more risk of developing DR, OR= 2.8; 95%CI: 0.42-18.0, and OR= 1.7; 95%CI: 1.02-2.95 women. Conclusions: The implementation of programs aimed at the early detection of debilitating conditions such as diabetic retinopathy health impact beneficiaries, effective links between primary care systems and provide second level positive health outcomes for patient diseases. PMID:26019380

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

    PubMed Central

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

    2012-01-01

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

  18. Early diagnosis of teeth erosion using polarized laser speckle imaging

    NASA Astrophysics Data System (ADS)

    Nader, Christelle Abou; Pellen, Fabrice; Loutfi, Hadi; Mansour, Rassoul; Jeune, Bernard Le; Brun, Guy Le; Abboud, Marie

    2016-07-01

    Dental erosion starts with a chemical attack on dental tissue causing tooth demineralization, altering the tooth structure and making it more sensitive to mechanical erosion. Medical diagnosis of dental erosion is commonly achieved through a visual inspection by the dentist during dental checkups and is therefore highly dependent on the operator's experience. The detection of this disease at preliminary stages is important since, once the damage is done, cares become more complicated. We investigate the difference in light-scattering properties between healthy and eroded teeth. A change in light-scattering properties is observed and a transition from volume to surface backscattering is detected by means of polarized laser speckle imaging as teeth undergo acid etching, suggesting an increase in enamel surface roughness.

  19. Breast self-examination: importance of technique in early diagnosis.

    PubMed Central

    Hislop, T G; Coldman, A J; Skippen, D H

    1984-01-01

    Shortly after diagnosis of breast cancer 416 patients were interviewed about their use of screening procedures and the method of tumour detection. Although 72% reported that they performed breast self-examination (BSE), only 12% actually inspected and palpated their breasts monthly. BSE was not significantly associated with tumour size or involvement of the lymph nodes; however, thorough inspection was associated with smaller tumours, and careful palpation with the absence of palpable nodes. Of those who no longer or never had examined their breasts 40% reported having annual breast examinations by their physician and had significantly smaller tumours than did the others. Most of the women (86%) reported having detected their own tumours, and BSE did not significantly increase the likelihood of self-detection. The frequency of use of screening procedures was similar in a sample of women without breast cancer. PMID:6498686

  20. Primary immunodeficiency in the neonate: Early diagnosis and management.

    PubMed

    Walkovich, Kelly; Connelly, James A

    2016-02-01

    Many primary immunodeficiencies (PIDs) manifest in the neonatal period but can be challenging to diagnose and manage optimally. In part, the difficulty stems from the natural immaturity of the neonatal immune system that may mask immune deficits and/or complicate interpretation of clinical findings and laboratory assays. The great diversity of PIDs--from innate immune system defects to those that impact the humoral and/or cellular components of the adaptive immune system--and the rapid rate at which new PIDs are being discovered makes it challenging for practitioners to stay current. Moreover, recent appreciation for immune deficiencies that lead to autoinflammation and autoimmunity have broadened the spectrum of neonatal PID, adding additional complexity to an already intricate field. This article serves to highlight the deficiencies in the neonatal immune system, while providing a review of the more common PIDs that present in the neonate and guidelines for diagnosis and supportive care.

  1. Early diagnosis of autism and impact on prognosis: a narrative review

    PubMed Central

    Fernell, Elisabeth; Eriksson, Mats Anders; Gillberg, Christopher

    2013-01-01

    Autism spectrum disorders involve a set of clinical phenotypes that mirror an early onset of neurodevelopmental deviations, with core symptoms that can probably be related to a deficiency in the social instinct. Underlying the cognitive impairments there are physiological brain problems, caused by a large number of medical factors. This narrative review of systematic reviews and meta-analyses from the last 5 years (2008–2012) presents aspects from many areas in autism spectrum disorder research, with a particular focus on early intervention and the subsequent impact on prognosis. Other major areas discussed are epidemiology, early symptoms and screening, early diagnosis, neuropsychology, medical factors, and the existence of comorbidities. There is limited evidence that any of the broadband “early intervention” programs are effective in changing the natural long-term outcome for many individuals with an early diagnosis of autism. However, there is some evidence that Early Intensive Behavioral Intervention (EIBI) is an effective treatment for some children with ASD. Nevertheless, there is emerging consensus that early diagnosis and information are needed in order that an autism-friendly environment be “created” around affected individuals. PMID:23459124

  2. Early diagnosis of autism and impact on prognosis: a narrative review.

    PubMed

    Fernell, Elisabeth; Eriksson, Mats Anders; Gillberg, Christopher

    2013-01-01

    Autism spectrum disorders involve a set of clinical phenotypes that mirror an early onset of neurodevelopmental deviations, with core symptoms that can probably be related to a deficiency in the social instinct. Underlying the cognitive impairments there are physiological brain problems, caused by a large number of medical factors. This narrative review of systematic reviews and meta-analyses from the last 5 years (2008-2012) presents aspects from many areas in autism spectrum disorder research, with a particular focus on early intervention and the subsequent impact on prognosis. Other major areas discussed are epidemiology, early symptoms and screening, early diagnosis, neuropsychology, medical factors, and the existence of comorbidities. There is limited evidence that any of the broadband "early intervention" programs are effective in changing the natural long-term outcome for many individuals with an early diagnosis of autism. However, there is some evidence that Early Intensive Behavioral Intervention (EIBI) is an effective treatment for some children with ASD. Nevertheless, there is emerging consensus that early diagnosis and information are needed in order that an autism-friendly environment be "created" around affected individuals.

  3. Histopathological diagnosis of acral lentiginous melanoma in early stages.

    PubMed

    Fernandez-Flores, Angel; Cassarino, David S

    2017-02-01

    Acral lentiginous melanoma is a rare variant of melanoma that is associated with a relatively low survival rate. The latter is partly due to the advanced stage in which the tumor is usually diagnosed. The diagnostic delay is mainly due to difficulties in identifying the very early histopathological signs of acral melanoma. The current article is a review of diagnostic clues, concepts, and definitions from the literature, as well as illustrating examples from our own archives. We have sought to provide an article that can be easily consulted in difficult cases of acral lentiginous melanoma.

  4. Ultrasonography applications in diagnosis and management of early rheumatoid arthritis.

    PubMed

    Thiele, Ralf G

    2012-05-01

    Ultrasonography is an elegant tool for the detection of tenosynovitis, synovitis, and erosions very early in rheumatoid arthritis, and the presence of a power Doppler signal is one of the best predictors of joint damage. Although clinical scores remain the mainstay of disease activity assessment, ultrasonography has proved to be a remarkably robust tool for reliable assessment of changes in rheumatoid arthritis. There is no evidence to suggest that problems with operator dependence would be greater than with other imaging modalities or physical examination, if performed by trained providers.

  5. Development of an assisting detection system for early infarct diagnosis

    SciTech Connect

    Sim, K. S.; Nia, M. E.; Ee, C. S.

    2015-04-24

    In this paper, a detection assisting system for early infarct detection is developed. This new developed method is used to assist the medical practitioners to diagnose infarct from computed tomography images of brain. Using this assisting system, the infarct could be diagnosed at earlier stages. The non-contrast computed tomography (NCCT) brain images are the data set used for this system. Detection module extracts the pixel data from NCCT brain images, and produces the colourized version of images. The proposed method showed great potential in detecting infarct, and helps medical practitioners to make earlier and better diagnoses.

  6. Early diagnosis of post-varicella necrotising fasciitis: A medical and surgical emergency

    PubMed Central

    Xavier, Rose; Abraham, Bobby; Cherian, Vinod Jacob; Joseph, Jobin I.

    2016-01-01

    Necrotising fasciitis (NF) is an extremely rare complication of a rather common paediatric viral exanthem varicella. Delayed diagnosis and treatment can lead to significant morbidity and mortality. Laboratory risk indicator of NF score aids in early clinical diagnosis in suspected cases of post-varicella NF thus enabling timely intervention. Surgery delayed for more than 24 hours, is an independent risk factor for death. Surgical debridement with good antibiotic coverage is the definitive treatment for NF. PMID:27251524

  7. CSF N-glycoproteomics for early diagnosis in Alzheimer's disease.

    PubMed

    Palmigiano, Angelo; Barone, Rita; Sturiale, Luisa; Sanfilippo, Cristina; Bua, Rosaria Ornella; Romeo, Donata Agata; Messina, Angela; Capuana, Maria Luisa; Maci, Tiziana; Le Pira, Francesco; Zappia, Mario; Garozzo, Domenico

    2016-01-10

    This work aims at exploring the human CSF (Cerebrospinal fluid) N-glycome by MALDI MS techniques, in order to assess specific glycosylation pattern(s) in patients with Alzheimer's disease (n:24) and in subjects with mild cognitive impairment (MCI) (n:11), these last as potential AD patients at a pre-dementia stage. For comparison, 21 healthy controls were studied. We identified a group of AD and MCI subjects (about 40-50% of the studied sample) showing significant alteration of CSF N-glycome profiling, consisting of a decrease in the overall sialylation degree and an increase in species bearing bisecting GlcNAc. Noteworthy, all the MCI patients that converted to AD within the clinical follow-up, had an abnormal CSF glycosylation profile. Based on the studied cohort, CSF glycosylation changes may occur before an AD clinical onset. Previous studies specifically focused on the key role of glycosyltransferase GnT-III on AD-pathogenesis, addressing the patho-mechanism to specific sugar modification of BACE-1 glycoprotein with bisecting GlcNAc. Our patients addressed protein N-glycosylation changes at an early phase of the whole biomolecular misregulation on AD, pointing to CSF N-glycome analyses as promising tool to enhance early detection of AD and also suggesting alternative therapeutics target molecules, such as specific glyco-enzymes.

  8. Natural history and early diagnosis of LAD-1/variant syndrome.

    PubMed

    Kuijpers, Taco W; van Bruggen, Robin; Kamerbeek, Nanne; Tool, Anton T J; Hicsonmez, Gonul; Gurgey, Aytemiz; Karow, Axel; Verhoeven, Arthur J; Seeger, Karl; Sanal, Ozden; Niemeyer, Charlotte; Roos, Dirk

    2007-04-15

    The syndrome of leukocyte adhesion deficiency (LAD) combined with a severe Glanzmann-type bleeding disorder has been recognized as a separate disease entity. The variability in clinical and cell biological terms has remained largely unclear. We present data on 9 cases from 7 unrelated families, with 3 patients being actively followed for more than 12 years. The disease entity, designated LAD-1/variant syndrome, presents early in life and consists of nonpussing infections from bacterial and fungal origin, as well as a severe bleeding tendency. This is compatible with 2 major blood cell types contributing to the clinical symptoms (ie, granulocytes and platelets). In granulocytes of the patients, we found adhesion and chemotaxis defects, as well as a defect in NADPH oxidase activity triggered by unopsonized zymosan. This last test can be used as a screening test for the syndrome. Many proteins and genes involved in adhesion and signaling, including small GTPases such as Rap1 and Rap2 as well as the major Rap activity-regulating molecules, were normally present. Moreover, Rap1 activation was intact in patients' blood cells. Defining the primary defect awaits genetic linkage analysis, which may be greatly helped by a more precise understanding and awareness of the disease combined with the early identification of affected patients.

  9. Familial Retinoblastoma: Raised Awareness Improves Early Diagnosis and Outcome

    PubMed Central

    Ghanem, Aseel Q.

    2017-01-01

    Purpose. To study the impact of awareness of retinoblastoma in the affected families on the management and outcome of familial retinoblastoma patients. Methods and Materials. This is a retrospective, clinical case series of 44 patients with familial retinoblastoma. Collected data included patient's demographics, laterality, family history, age at diagnosis, presenting signs, treatment modalities, tumor stage, eye salvage rate, metastasis, and mortality. Results. Out of 200 retinoblastoma patients in our registry, 44 (22%) patients were familial, 18 were probands, and 26 were second, third, or fourth affected family members. There were 76 affected eyes: 31 eyes of probands and 45 eyes of the other affected family members. Among probands, all patients (100%) had at least one eye enucleated: 58% (18 eyes) of the affected eyes were enucleated and 32% (10 eyes) of the affected eyes were radiated. On the other hand, among the nonprobands, only 20% had one eye enucleated, and only 4 eyes (9%) received radiation. The eye salvage rate was significantly higher in the nonprobands than in the probands in this series (p = 0.00206). Patients diagnosed by screening (38%) had excellent visual outcome, and both eyes were salvaged. Conclusion. Awareness of families of the possibility of retinoblastoma and adequate screening led to a significantly higher rate of eye salvage in patients with familial retinoblastoma. PMID:28348883

  10. [The place of neuropathy in the early diagnosis of Cockayne syndrome: Report on two siblings].

    PubMed

    Blin-Rochemaure, N; Allani-Essid, N; Carlier, R; Laugel, V; Quijano-Roy, S

    2017-04-01

    Two siblings affected with Cockayne syndrome (CS) are described: this diagnosis was suggested by the finding of a demyelinating neuropathy on electromyography in both children and consistent clinical features. CS is a rare genetic disorder with severe prognosis and a highly varied phenotype, making early diagnosis difficult. Taking into account these two cases and the literature, the current diagnosis criteria are insufficiently specific and appear late: the diagnosis may be delayed because multi-organ involvement and sensorial impairment suggests more frequent neurometabolic disorders. Neuroradiologic abnormalities are suggestive but may occur later. The finding of a demyelinating peripheral neuropathy seems to be a more useful marker to suspect this disorder in the presence of other clinical features. Further studies are required to better define the chronology of the symptoms, not only for adequate genetic counseling and eventual prenatal diagnosis, but also to assess the efficacy of future therapies.

  11. MRI and CSF studies in the early diagnosis of Alzheimer's disease.

    PubMed

    de Leon, M J; DeSanti, S; Zinkowski, R; Mehta, P D; Pratico, D; Segal, S; Clark, C; Kerkman, D; DeBernardis, J; Li, J; Lair, L; Reisberg, B; Tsui, W; Rusinek, H

    2004-09-01

    hypothesis that elevations in P-tau231 are accurate and specific indicators of AD-related changes in brain and cognition. In cross-section and longitudinally, our results show that evaluations of the P-tau231 level are highly correlated with reductions in the MRI hippocampal volume and by using CSF and MRI measures together one improves the separation of NL and MCI. The data suggests that by combining MRI and CSF measures, an early (sensitive) and more specific diagnosis of AD is at hand. Numerous studies show that neither T-tau nor P-tauX (X refers to all hyper-phosphorylation site assays) levels are sensitive to the longitudinal progression of AD. The explanation for the failure to observe longitudinal changes is not known. One possibility is that brain-derived proteins are diluted in the CSF compartment. We recently used MRI to estimate ventricular CSF volume and demonstrated that an MRI-based adjustment for CSF volume dilution enables detection of a diagnostically useful longitudinal P-tau231 elevation. Curiously, our most recent data show that the CSF isoprostane level does show significant longitudinal elevations in MCI in the absence of dilution correction. In summary, we conclude that the combined use of MRI and CSF incrementally contributes to the early diagnosis of AD and to monitor the course of AD. The interim results also suggest that a panel of CSF biomarkers can provide measures both sensitive to longitudinal change as well as measures that lend specificity to the AD diagnosis.

  12. Lung Ultrasound in Early Diagnosis of Neonatal Ventilator Associated Pneumonia before Any Radiographic or Laboratory Changes

    PubMed Central

    Ibrahim, Mohammed; Ibrahim, Mostafa; Bioumy, Nouran; El-Sharkawy, Sonya

    2016-01-01

    Neonatal pneumonia is reported to be the primary cause of neonatal respiratory failure and one of the common causes of neonatal hospitalization and death in developing countries. Chest X-ray was considered the gold standard for diagnosis of neonatal pneumonia. Lung ultrasonography has been described as a valuable noninvasive tool for the diagnosis of many neonatal pulmonary diseases. We report a case of ventilation associated neonatal pneumonia with very early diagnosis using lung ultrasound before any significant radiographic changes in chest X-ray or laboratory findings suggestive of infection. PMID:27891280

  13. X-ray System for Early Diagnosis of Breast Cancer

    SciTech Connect

    Ando, M.; Maksimenko, A.; Sugiyama, H.; Hyodo, K.; Ichihara, S.; Endo, T.; Moriyama, N.; Yuasa, T.; Hashimoto, E.; Li, G.

    2007-03-30

    Increasing rate of breast cancer in Japan is enormous in these years. Nevertheless only 2-3 % of female may receive mammography. In order to improve this number for early detection of breast cancer we have started development of a refraction-based visualization of breast cancer. This system comprises two types of imaging: one is for a regular annual or biyearly check of the breast cancer. This is a 2-D mode x-ray dark-field imaging where a Laue transmission type of angle analyzer with thickness of 2.124 mm is used for the FOV of 90 mm x 90 mm that can provide the spatial resolution better than 50 microns; the other a 3-D reconstruction for further detailed check to specify type and location of breast cancer.

  14. Novel endoscopic imaging system for early cancer diagnosis

    NASA Astrophysics Data System (ADS)

    Igarashi, Makoto; Gono, Kazuhiro

    2007-02-01

    We have developed the novel video endoscope imaging techniques; Narrow band imaging (NBI), Auto-Fluorescence Imaging (AFI), Infra-Red Imaging (IRI) and Endo-Cytoscopy System (ECS). The purpose of these imaging techniques is to emphasize the important tissue features associated with early stage of lesions. We have already launched the new medical endoscope system including NBI, AFI and IRI (EVIS LUCERA SPECTRUM, OLYMPUS MEDICAL SYSTEMS Co., Ltd., Fig.1). Moreover ECS, which has enough magnification to observe cell nuclei on a superficial mucosa under methylene blue dye staining, is the endoscopic instrument with ultra-high optical zoom. In this paper we demonstrate the concepts and the medical efficacy of each technology.

  15. Glutaric aciduria type 1--importance of early diagnosis and treatment.

    PubMed

    Afroze, Bushra; Yunus, Zabedah Mohammad

    2014-05-01

    Glutaric aciduria type 1 is a rare inherited organic academia. Untreated patients characteristically develop dystonia secondary to striatal injury during early childhood, which results in high morbidity and mortality. In patients diagnosed during neonatal period, striatal injury can be prevented by metabolic treatment including low lysine diet, carnitine supplementation and aggressive emergency treatment during acute episode of inter current illnesses. However, after the onset of neurological damage initiation of treatment is generally not effective. Therefore; glutaric aciduria type 1 is included in newborn screening panel for inherited metabolic diseases in many countries. We describe two children in a family with glutaric aciduria type 1 and their different long term outcomes. The first child was diagnosed late leading to severe neurological damage. The second child was diagnosed in the neonatal period as a result of selective high-risk screening and was treated appropriately giving a normal growth.

  16. Emotional impact of diagnosis and early treatment of lymphomas.

    PubMed

    Lloyd, G G; Parker, A C; Ludlam, C A; McGuire, R J

    1984-01-01

    Psychiatric morbidity, relevant symptoms and satisfaction with communication were assessed in patients suffering from malignant lymphoma. Before treatment started 15 of 40 patients had clinically significant psychiatric morbidity. Treatment, in its early stages, was not associated with a significant change in mean psychiatric morbidity scores but there was a decrease in ratings of concern about illness and an increase in ratings of nausea. Eleven of 31 patients seen for a second interview reported dissatisfaction with some aspect of communication with the medical staff. The findings suggest that emotional distress can be contained with a policy of frank communication; nevertheless dissatisfaction is common, being associated with initial less concern, good general health and neurotic personality traits. Personality assessment should be incorporated in future studies of doctor-patient communication.

  17. Studies on immunodiagnosis of hepatopancreatic parvo-like virus diseases of Penaeus orientalis . Rapid early diagnosis

    NASA Astrophysics Data System (ADS)

    Sun, Xiuqin; Wang, Wenxin; Shao, Jijun; Zhang, Jinxin; Lu, Ying; Xue, Qinggang; Song, Qinyun

    1993-09-01

    This paper describes a rapid procedure for diagnosis of penaeid viral disease using the immune serological method. The SPA (Staphylococcal Protein A) coagglutination test in early diagnosis of penaeid viral disease has yielded satisfactory results. This is the first time SPA is used in China for diagnoses of viral diseases of marine invertebrates, especially penaeid shrimp. The SPA early diagnostic method is characterized by accuracy, rapidity, simplicity and convenience, low cost, high specificity, strong sensitivity and micro-detectability, and easy dissemination and adaptability in prawn farms.

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

    PubMed

    Roses, A D

    2016-02-01

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

  19. Techniques for early diagnosis of oral squamous cell carcinoma: Systematic review

    PubMed Central

    Carreras-Torras, Clàudia

    2015-01-01

    Background and objectives The diagnosis of early oral potentially malignant disorders (OPMD) and oral squamous cell carcinoma (OSCC) is of paramount clinical importance given the mortality rate of late stage disease. The aim of this study is to review the literature to assess the current situation and progress in this area. Material and Methods A search in Cochrane and PubMed (January 2006 to December 2013) has been used with the key words “squamous cell carcinoma”, “early diagnosis” “oral cavity”, “Potentially Malignant Disorders” y “premalignant lesions”. The inclusion criteria were the use of techniques for early diagnosis of OSCC and OPMD, 7 years aged articles and publications written in English, French or Spanish. The exclusion criteria were case reports and studies in other languages. Results Out of the 89 studies obtained initially from the search 60 articles were selected to be included in the systematic review: 1 metaanalysis, 17 systematic reviews, 35 prospective studies, 5 retrospective studies, 1 consensus and 1 semi-structured interviews. Conclusions The best diagnostic technique is that which we have sufficient experience and training. Definitely tissue biopsy and histopathological examination should remain the gold standard for oral cancer diagnose. In this systematic review it has not been found sufficient scientific evidence on the majority of proposed techniques for early diagnosis of OSCC, therefore more extensive and exhaustive studies are needed. Key words: Squamous cell carcinoma, early diagnosis, oral cavity, potentially malignant disorders, premalignant lesions. PMID:25662554

  20. 2014 CODEPEH recommendations: Early detection of late onset deafness, audiological diagnosis, hearing aid fitting and early intervention.

    PubMed

    Núñez-Batalla, Faustino; Jáudenes-Casaubón, Carmen; Sequí-Canet, Jose Miguel; Vivanco-Allende, Ana; Zubicaray-Ugarteche, Jose

    2016-01-01

    The latest scientific literature considers early diagnosis of deafness as the key element to define the educational and inclusive prognosis of the deaf child, because it allows taking advantage of the critical period of development (0-4 years). Highly significant differences exist between deaf people who have been stimulated early and those who have received late or improper intervention. Early identification of late-onset disorders requires special attention and knowledge on the part of every childcare professional. Programs and additional actions beyond neonatal screening should be designed and planed to ensure that every child with a significant hearing loss is detected early. For this purpose, the CODEPEH would like to highlight the need for continuous monitoring of children's auditory health. Consequently, CODEPEH has drafted the recommendations included in the present document.

  1. Development of a FPGA based fuzzy neural network system for early diagnosis of critical health condition of a patient.

    PubMed

    Chowdhury, Shubhajit Roy; Saha, Hiranmay

    2010-02-01

    The paper describes the design and training of a fuzzy neural network used for early diagnosis of a patient through an FPGA based implementation of a smart instrument. The system employs a fuzzy interface cascaded with a feed-forward neural network. In order to obtain an optimum decision regarding the future pathophysiological state of a patient, the optimal weights of the synapses between the neurons have been determined by using inverse delayed function model of neurons. The neurons that are considered in the proposed network are devoid of self connections instead of commonly used self connected neurons. The current work also find out the optimal number of neurons in the hidden layer for accurate diagnosis as against the available number of CLB in the FPGA. The system has been trained and tested with renal data of patients taken at 10 days interval of time. Applying the methodology, the chance of attainment of critical renal condition of a patient has been predicted with an accuracy of 95.2%, 30 days ahead of actually attaining the critical condition. The system has also been tested for pathophysiological state prediction of patients at multiple time steps ahead and the prediction at the next instant of time stands out to be the most accurate.

  2. Endoscopic diagnosis of minute, small, and flat early gastric cancers.

    PubMed

    Misumi, A; Misumi, K; Murakami, A; Harada, K; Honmyo, U; Akagi, M

    1989-07-01

    We reviewed the diagnostic process in 6 minute, 6 small and 9 flat early cancers detected preoperatively, and in additional 12 flat cancers that were found in resected stomachs only at histology between 1976 and 1986. The limit of the size of cancer detectable preoperatively was 4 mm. Endoscopically, 7 out of 12 minute and small cancers detected preoperatively showed obvious morphological changes, while the others showed only color changes with or without erosion. Lesions with morphological changes significantly invaded the mucosa more often than those with no such changes (p = 0.010). Among flat cancers, color change was significantly more frequently observed in cancers involving the whole mucosa than in those confined to the superficial part of the mucosa (p = 0.015). Redness and discoloration were significantly more frequent in the differentiated and undifferentiated groups, respectively (p = 0.005). This study suggests that morphological and color changes are important indicators of minute or small cancers, especially those involving the whole mucosa.

  3. Epidemiology and early diagnosis of primary liver cancer in China.

    PubMed

    Yen, F S; Shen, K N

    1986-01-01

    Epidemiological studies in different areas in China have revealed several outstanding risk factors of PLC, i.e., HBV infection, pollution of drinking water, contamination of food by AFB1 and/or nitrosamines, and family predisposition. Accordingly, a program of HBV vaccination, improved supply of drinking water, better preservation and storage of food, and possibly chemoprevention for high-risk populations should be effective preventive measures. Studies have shown that frequent AFP screening in high-risk populations is highly recommended to detect early cases of PLC. According to research in Qidong, careful follow-up of the dynamic changes of AFP in individuals with persistent low levels of positive AFP is important for distinguishing other conditions from true PLC. Newer means for the localization of small-size PLC (under 5 cm), such as type B ultrasonography, nuclide scanning, computerized tomography, and hepatoangiography, represent remarkable progress in improving markedly the success of surgery and hence the survival rate of PLC patients. The advances in knowledge of PLC have been encouraging. Although much work remains to be done on the etiological agents and the mechanism of oncogenesis, it is time that larger scale control measures be put into effect in high-incidence areas to discover if one of the most common cancers in the world can be controlled.

  4. Epidemiology and early diagnosis of primary liver cancer in China

    SciTech Connect

    Yen, F.S.; Shen, K.N.

    1986-01-01

    Epidemiological studies in different areas in China have revealed several outstanding risk factors of PLC, i.e., HBV infection, pollution of drinking water, contamination of food by AFB1 and/or nitrosamines, and family predisposition. Accordingly, a program of HBV vaccination, improved supply of drinking water, better preservation and storage of food, and possibly chemoprevention for high-risk populations should be effective preventive measures. Studies have shown that frequent AFP screening in high-risk populations is highly recommended to detect early cases of PLC. According to research in Qidong, careful follow-up of the dynamic changes of AFP in individuals with persistent low levels of positive AFP is important for distinguishing other conditions from true PLC. Newer means for the localization of small-size PLC (under 5 cm), such as type B ultrasonography, nuclide scanning, computerized tomography, and hepatoangiography, represent remarkable progress in improving markedly the success of surgery and hence the survival rate of PLC patients. The advances in knowledge of PLC have been encouraging. Although much work remains to be done on the etiological agents and the mechanism of oncogenesis, it is time that larger scale control measures be put into effect in high-incidence areas to discover if one of the most common cancers in the world can be controlled. 62 references.

  5. Beyond statistics: a new combinatorial approach to identifying biomarker panels for the early detection and diagnosis of Alzheimer's disease.

    PubMed

    Milward, Elizabeth A; Moscato, Pablo; Riveros, Carlos; Johnstone, Daniel M

    2014-01-01

    Interventions to delay or slow Alzheimer's disease (AD) progression are most effective when implemented at pre-clinical disease stages, making early diagnosis essential. For this reason, there is an increasing focus on discovery of predictive biomarkers for AD. Currently, the most reliable predictive biomarkers require either expensive (brain imaging) or invasive (cerebrospinal fluid collection) procedures, leading researchers to strive toward identifying robust biomarkers in blood. Yet promising early results from candidate blood biomarker studies are being refuted by subsequent findings in other cohorts or using different assay technologies. Recent evidence suggests that univariate blood biomarkers are not sufficiently sensitive or specific for the diagnosis of disorders as complex, multifactorial, and heterogeneous as AD. To overcome these present limitations, more consideration must be given to the development of 'biomarker panels' assessing multiple molecular entities. The selection of such panels should draw not only on traditional statistical approaches, whether parametric or non-parametric, but also on newer non-statistical approaches that have the capacity to retain and utilize information about all individual study participants rather than collapsing individual data into group summary values (e.g., mean, variance). These new approaches, facilitated by advances in computing, have the potential to preserve the context of interrelationships between different molecular entities, making them amenable to the development of panels that, as a multivariate collective, can overcome the challenge of individual variability and disease heterogeneity to accurately predict and classify AD. We argue that the AD research community should take fuller advantage of these approaches to accelerate discovery.

  6. Comparative study of immunochromatographic assay (IgM) and widal test for early diagnosis of typhoid fever.

    PubMed

    Sultana, S; Hossain, M A; Alam, M A; Paul, S K; Kabir, M R; Hoque, S M; Yesmin, T; Habiba, U; Sarkar, S R; Maruf, M A; Halim, P I; Hoque, M R

    2012-10-01

    Typhoid fever is a severe systemic infection endemic in many developing countries, including Bangladesh. Present study evaluated immunochromatographic test (ICT) and Widal test in the early diagnosis of typhoid fever cases. The study was carried out in the department of Microbiology, Mymensingh Medical College, Mymensingh between July, 2010 and June, 2011, including 200 individuals of different age and sex. Of them, 150 were clinically suspected cases of typhoid fever and 50 age-sex matched controls. Among 150 blood samples from the suspected cases 106(70.7%) were positive for IgM of Salmonella typhi by ICT and 67(44.7%) were positive by Widal test. Whereas, among the 50 controls 4(8%) were positive by ICT and 6(12%) were positive by Widal test. The sensitivity, specificity, positive and negative predictive value of the ICT was found as 83.3%, 92.00%, 91.9% and 83.6% respectively. On the other hand corresponding values for Widal test were of 44.4%, 88%, 80% and 59.5% respectively. Thus, The ICT (IgM) is better alternative to Widal test for early and accurate diagnosis of typhoid fever. The ICT (IgM) is rapid, easy to perform, applicable for field use and highly sensitive and specific for detection of antibodies in patients with typhoid fever.

  7. Pediatric Necrotizing Fasciitis: Restitutio Ad Integrum after Early Diagnosis and Aggressive Surgical Treatment

    PubMed Central

    Lemaréchal, Angela; Zundel, Sabine; Szavay, Philipp

    2016-01-01

    Necrotizing fasciitis (NF) is a severe, life-threatening infectious condition. Diagnosis is difficult due to unspecific symptoms yet crucial for favorable outcomes. We report a case of a 1 year old, previously healthy boy, where early suspicion of NF led to prompt aggressive therapy and consecutive restitutio ad integrum. PMID:28035291

  8. Prehospital diagnosis of massive ethylene glycol poisoning and use of an early antidote.

    PubMed

    Amathieu, Roland; Merouani, Medhi; Borron, Stephen W; Lapostolle, Frédéric; Smail, Nadia; Adnet, Frédéric

    2006-08-01

    We report the case of a patient suspected of voluntary massive poisoning by ethylene glycol. Prehospital diagnosis was established by portable blood analyser and an early antidote with 4 MP treatment initiated in out-of-hospital setting. Use of portable blood analyser in prehospital care should be considered in case of suspected massive poisoning by ethylene glycol.

  9. [Biologic markers for early diagnosis of effects caused by exposure to coal dust in miners].

    PubMed

    Pavlovskaia, N A; Rushkevich, O P

    2012-01-01

    The authors studied changes in several laboratory values of coal miners in Russian Federation, defined information value of these changes and suggested complex of methods for early preclinical diagnosis of negative effects caused by coal dust in the miners. Dust-related respiratory diseases were proved to develop by stages on molecular level.

  10. Raman Spectrometric Detection Methods for Early and Non-Invasive Diagnosis of Alzheimer's Disease.

    PubMed

    Huang, Chia-Chi; Isidoro, Ciro

    2017-03-18

    The continuous increasing rate of patients suffering of Alzheimer's disease (AD) worldwide requires the adoption of novel techniques for non-invasive early diagnosis and monitoring of the disease. Here we review the various Raman spectroscopic techniques, including Fourier Transform-Raman spectroscopy, surface-enhanced Raman scattering spectroscopy, coherent anti-Stokes Raman scattering spectroscopy, and confocal Raman microspectroscopy, that could be used for the diagnosis of AD. These techniques have shown the potential to detect AD biomarkers, such as the amyloid-β peptide and the tau protein, or the neurotransmitters involved in the disease (e.g., Glutamate and γ-Aminobutyric acid), or the typical structural alterations in specific brain areas. The possibility to detect the specific biomarkers in liquid biopsies and to obtain high resolution 3D microscope images of the affected area make the Raman spectroscopy a valuable ally in the early diagnosis and monitoring of AD.

  11. Chinese consensus on early diagnosis of primary lung cancer (2014 version).

    PubMed

    Hu, Jie; Qian, Gui-Sheng; Bai, Chun-Xue

    2015-09-01

    The incidence and mortality of lung cancer in China have rapidly increased. Lung cancer is the leading cause of cancer death in China, possibly because of the inadequate early diagnosis of lung cancer. Reaching a consensus on early diagnostic strategies for lung cancer in China is an unmet needed. Recently, much progress has been made in lung cancer diagnosis, such as screening in high-risk populations, the application of novel imaging technologies, and the use of minimally invasive techniques for diagnosis. However, systemic reviews of disease history, risk assessment, and patients' willingness to undergo invasive diagnostic procedures also need to be considered. A diagnostic strategy for lung cancer should be proposed and developed by a multidisciplinary group. A comprehensive evaluation of patient factors and clinical findings should be completed before treatment.

  12. On-line early fault detection and diagnosis of municipal solid waste incinerators

    SciTech Connect

    Zhao Jinsong Huang Jianchao; Sun Wei

    2008-11-15

    A fault detection and diagnosis framework is proposed in this paper for early fault detection and diagnosis (FDD) of municipal solid waste incinerators (MSWIs) in order to improve the safety and continuity of production. In this framework, principal component analysis (PCA), one of the multivariate statistical technologies, is used for detecting abnormal events, while rule-based reasoning performs the fault diagnosis and consequence prediction, and also generates recommendations for fault mitigation once an abnormal event is detected. A software package, SWIFT, is developed based on the proposed framework, and has been applied in an actual industrial MSWI. The application shows that automated real-time abnormal situation management (ASM) of the MSWI can be achieved by using SWIFT, resulting in an industrially acceptable low rate of wrong diagnosis, which has resulted in improved process continuity and environmental performance of the MSWI.

  13. On-line early fault detection and diagnosis of municipal solid waste incinerators.

    PubMed

    Zhao, Jinsong; Huang, Jianchao; Sun, Wei

    2008-11-01

    A fault detection and diagnosis framework is proposed in this paper for early fault detection and diagnosis (FDD) of municipal solid waste incinerators (MSWIs) in order to improve the safety and continuity of production. In this framework, principal component analysis (PCA), one of the multivariate statistical technologies, is used for detecting abnormal events, while rule-based reasoning performs the fault diagnosis and consequence prediction, and also generates recommendations for fault mitigation once an abnormal event is detected. A software package, SWIFT, is developed based on the proposed framework, and has been applied in an actual industrial MSWI. The application shows that automated real-time abnormal situation management (ASM) of the MSWI can be achieved by using SWIFT, resulting in an industrially acceptable low rate of wrong diagnosis, which has resulted in improved process continuity and environmental performance of the MSWI.

  14. The Potential of Gait Analysis to Contribute to Differential Diagnosis of Early Stage Dementia: Current Research and Future Directions

    ERIC Educational Resources Information Center

    Morgan, Debra; Funk, Melanie; Crossley, Margaret; Basran, Jenny; Kirk, Andrew; Bello-Haas, Vanina Dal

    2007-01-01

    Early differential diagnosis of dementia is becoming increasingly important as new pharmacologic therapies are developed, as these treatments are not equally effective for all types of dementia. Early detection and differential diagnosis also facilitates informed family decision making and timely access to appropriate services. Information about…

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

    PubMed Central

    Twisk, Frank NM

    2015-01-01

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

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

    NASA Astrophysics Data System (ADS)

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

    2015-01-01

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

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

    PubMed

    Twisk, Frank Nm

    2015-06-26

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

  18. Testing breast cancer serum biomarkers for early detection and prognosis in pre-diagnosis samples

    PubMed Central

    Kazarian, Anna; Blyuss, Oleg; Metodieva, Gergana; Gentry-Maharaj, Aleksandra; Ryan, Andy; Kiseleva, Elena M; Prytomanova, Olga M; Jacobs, Ian J; Widschwendter, Martin; Menon, Usha; Timms, John F

    2017-01-01

    Background: Breast cancer is a leading cause of morbidity and mortality worldwide. Although mammography screening is available, there is an ongoing interest in improved early detection and prognosis. Herein, we have analysed a combination of serological biomarkers in a case–control cohort of sera taken before diagnosis. Methods: This nested case–control study within the UK Collaborative Trial of Ovarian Cancer Screening (UKCTOCS) used serum samples from 239 women who subsequently developed breast cancer and 239 matched cancer-free controls. Sera were screened by ELISA for 9 candidate markers. Univariate and multivariate analyses were performed to examine associations with clinico-pathological features and between case controls in different time groups before diagnosis. Results: Significant associations with clinico-pathological features related to prognosis were found for several candidates (CA15-3, HSP90A and PAI-1). However, there were no consistent differences between cases and controls for any candidate in the lead up to diagnosis. Whilst combination models outperformed single markers, there was no increase in performance towards diagnosis. Conclusions: This study using unique pre-diagnosis samples shows that CA15-3, HSP90A and PAI-1 have potential as early prognostic markers and warrant further investigation. However, none of the candidates or combinations would be useful for screening. PMID:28081538

  19. Diffusion Kurtosis Imaging of Substantia Nigra Is a Sensitive Method for Early Diagnosis and Disease Evaluation in Parkinson's Disease

    PubMed Central

    Zhang, Guohua; Zhang, Yuhu; Zhang, Chengguo; Wang, Yukai; Ma, Guixian; Nie, Kun; Xie, Haiqun; Liu, Jianping; Wang, Lijuan

    2015-01-01

    Background. To diagnose Parkinson disease (PD) in an early stage and accurately evaluate severity, it is important to develop a sensitive method for detecting structural changes in the substantia nigra (SN). Method. Seventy-two untreated patients with early PD and 72 healthy controls underwent diffusion tensor and diffusion kurtosis imaging. Regions of interest were drawn in the rostral, middle, and caudal SN by two blinded and independent raters. Mean kurtosis (MK) and fractional anisotropy in the SN were compared between the groups. Receiver operating characteristic (ROC) and Spearman correlation analyses were used to compare the diagnostic accuracy and correlate imaging findings with Hoehn-Yahr (H-Y) staging and part III of the Unified Parkinson's Disease Rating Scale (UPDRS-III). Result. MK in the SN was increased significantly in PD patients compared with healthy controls. The area under the ROC curve was 0.976 for MK in the SN (sensitivity, 0.944; specificity, 0.917). MK in the SN had a positive correlation with H-Y staging and UPDRS-III scores. Conclusion. Diffusion kurtosis imaging is a sensitive method for PD diagnosis and severity evaluation. MK in the SN is a potential biomarker for imaging studies of early PD that can be widely used in clinic. PMID:26770867

  20. Pathologic diagnosis of achondrogenesis type 2 in a fragmented fetus: case report and evidence-based differential diagnostic approach in the early midtrimester.

    PubMed

    Weisman, Paul S; Kashireddy, Papreddy V; Ernst, Linda M

    2014-01-01

    As a group, lethal genetic skeletal disorders (GSDs) usually result in death within the perinatal period. Because lethal GSDs are often ultrasonographically detectible by early midtrimester, dilation and evacuation (D&E) is the method of choice for elective termination of pregnancy in many institutions. However, because the diagnosis of the lethal GSDs relies heavily upon radiologic examination of fetal remains, reaching an accurate diagnosis in this setting can be challenging. We report an autopsy case of a fetus delivered by D&E at 15 4/7 weeks gestation with radiologic, histologic, and genetic findings compatible with achondrogenesis type 2 and discuss an evidence-based differential diagnostic approach to lethal GSDs terminated by early midtrimester D&E.

  1. Microscopic DTI accurately identifies early glioma cell migration: correlation with multimodal imaging in a new glioma stem cell model.

    PubMed

    Gimenez, Ulysse; Perles-Barbacaru, Adriana-T; Millet, Arnaud; Appaix, Florence; El-Atifi, Michele; Pernet-Gallay, Karin; van der Sanden, Boudewijn; Berger, François; Lahrech, Hana

    2016-11-01

    Monitoring glioma cell infiltration in the brain is critical for diagnosis and therapy. Using a new glioma Glio6 mouse model derived from human stem cells we show how diffusion tensor imaging (DTI) may predict glioma cell migration/invasion. In vivo multiparametric MRI was performed at one, two and three months of Glio6 glioma growth (Glio6 (n = 6), sham (n = 3)). This longitudinal study reveals the existence of a time window to study glioma cell/migration/invasion selectively. Indeed, at two months only Glio6 cell invasion was detected, while tumor mass formation, edema, blood-brain barrier leakage and tumor angiogenesis were detected later, at three months. To robustly confirm the potential of DTI for detecting glioma cell migration/invasion, a microscopic 3D-DTI (80 μm isotropic spatial resolution) technique was developed and applied to fixed mouse brains (Glio6 (n = 6), sham (n = 3)). DTI changes were predominant in the corpus callosum (CC), a known path of cell migration. Fractional anisotropy (FA) and perpendicular diffusivity (D⊥ ) changes derived from ex vivo microscopic 3D-DTI were significant at two months of tumor growth. In the caudate putamen an FA increase of +38% (p < 0.001) was observed, while in the CC a - 28% decrease in FA (p < 0.005) and a + 95% increase in D⊥ (p < 0.005) were observed. In the CC, DTI changes and fluorescent Glio6 cell density obtained by two-photon microscopy in the same brains were correlated (p < 0.001, r = 0.69), validating FA and D⊥ as early quantitative biomarkers to detect glioma cell migration/invasion. The origin of DTI changes was assessed by electron microscopy of the same tract, showing axon bundle disorganization. During the first two months, Glio6 cells display a migratory phenotype without being associated with the constitution of a brain tumor mass. This offers a unique opportunity to apply microscopic 3D-DTI and to validate DTI parameters FA and D⊥ as biomarkers for glioma cell

  2. Potential impact of self-perceived prodromal symptoms on the early diagnosis of Parkinson's disease.

    PubMed

    Walter, Uwe; Kleinschmidt, Sabine; Rimmele, Florian; Wunderlich, Christian; Gemende, Irene; Benecke, Reiner; Busse, Knut

    2013-12-01

    The detection of Parkinson's disease (PD) at stages earlier than current diagnostic criteria allow for may increase the efficacy of disease-modifying therapies. Here we studied the relationship between retrospectively reported prodromal non-motor and motor features of PD, their pre-diagnostic presentation to physicians, and the extrapolated potential of an earlier diagnosis of PD considering early diagnostic markers detected at presence. One hundred and fifteen PD patients (41 women; age 63.2 ± 8.6 years) underwent a structured face-to-face interview on 22 prediagnostic symptoms. Present olfactory function, motor symptoms, and substantia nigra hyperechogenicity (SN-h) were assessed using standardized tools. Most frequently self-perceived symptoms in the early and very early prediagnostic phase (>2, >7 years prior to diagnosis) were hyposmia (23, 10 %), musculoskeletal pain (21, 9 %), and depression/anxiety (14, 11 %). In the late prediagnostic phase (≤ 2 years) mild motor signs, especially asymmetric bradykinesia and rest tremor, increasingly dominated the self-perception. In the prediagnostic phase, 99 % of patients consulted a physician because of motor symptoms but only 36 % with non-motor symptoms, mostly pain (20 %), depression/anxiety (9 %), constipation, bladder urgency, insomnia, REM sleep behaviour disorder, sexual dysfunction, and malignant melanoma (each, <6 %). Assuming the potential detectability of present hyposmia, asymmetric motor slowing and SN-h, a triad highly specific for PD, as early as 5 years prior to diagnosis, up to 84 (73 %) patients could have been identified in the prediagnostic phase using their or their physicians' awareness of early symptoms. We conclude that educating the general population and physicians on the importance of distinct prodromal features and applying symptom-specific diagnostic programs can improve the early detection of PD.

  3. Basal cell carcinoma with halo phenomenon in a young female: significance of dermatoscopy in early diagnosis.

    PubMed

    Basak, Pinar Yuksel; Meric, Gonca; Ciris, Metin

    2015-01-01

    Halo phenomenon of nevus may be observed as a circular reaction, although it is unusual around tumors. A 29-year-old woman presented with a pigmented lesion on the cheek since three years. She noted whitening of the skin around the lesion almost after a year following its appearance. Dermatologic examination revealed a pigmented nodular lesion with a hypopigmented halo on the left infraorbital region. The clinical impression was halo nevus, whereas basal cell carcinoma (BCC) was considered in dermatoscopic differential diagnosis. The diagnosis was infiltrative-type BCC histopathologically. The persistence of a perilesional halo around an enlarging pigmented lesion should be carefully examined with accompanying dermatoscopic findings even in young patients for early diagnosis of tumoral lesions.

  4. Endoluminal Diagnosis of Early Gastric Cancer and Its Precursors: Bridging the Gap Between Endoscopy and Pathology.

    PubMed

    Uedo, Noriya; Yao, Kenshi

    Although dye-based and image-enhanced endoscopic techniques have revolutionized endoscopic diagnosis, conventional white light endoscopy still plays an important role in the diagnosis of early gastric cancer (EGC) during routine endoscopy. Chromoendoscopy reveals morphological characteristics of the mucosal lesions by enhancing mucosal contrast, while narrow-band imaging (NBI) facilitates detailed evaluation of the vascular architecture and surface features. Positive diagnostic findings of EGC on white light imaging and indigo carmine chromoendoscopy are a sharply demarcated lesion and irregularity in surface morphology or color. Magnifying NBI further improves diagnostic accuracy of white light imaging and chromoendoscopy. We review our approach to the endoscopic diagnosis of (pre-)malignant lesions in the stomach and discuss in detail novel endoscopic microvascular architectural patterns which further leverage diagnostic biopsy yield. We expect that further improvement of endoscopic techniques and correlative studies will close the gap between endoscopy and pathology.

  5. Proximal femoral focal deficiency of the fetus - early 3D/4D prenatal ultrasound diagnosis.

    PubMed

    Kudla, Marek J; Beczkowska-Kielek, Aleksandra; Kutta, Katarzyna; Partyka-Lasota, Justyna

    2016-09-01

    Proximal Femoral Focal Deficiency (PFFD) is a rare congenital syndrome of unknown etiology. Additional disorders can be present up to 70% of PFFD cases. Management (including termination) depends on the severity of the malformation. We present a case of a 32-year-old woman referred for routine ultrasound examination in the 12th week of pregnancy. Detailed 3D/4D evaluation revealed asymmetry of lower limbs and diagnosis of isolated PFFD was established. Parents were fully informed and decided to continue the pregnancy. We stress here the importance of early 3D/4D ultrasound diagnosis. Our paper presents the earliest case where the diagnosis of PFFD was established with 3D/4D ultrasound.

  6. Label-free nanoplasmonic sensing of tumor-associate autoantibodies for early diagnosis of colorectal cancer.

    PubMed

    Soler, Maria; Estevez, M-Carmen; Villar-Vazquez, Roi; Casal, J Ignacio; Lechuga, Laura M

    2016-08-03

    Colorectal cancer is treatable and curable when detected at early stages. However there is a lack of less invasive and more specific screening and diagnosis methods which would facilitate its prompt identification. Blood circulating autoantibodies which are immediately produced by the immune system at tumor appearance have become valuable biomarkers for preclinical diagnosis of cancer. In this work, we present the rapid and label-free detection of colorectal cancer autoantibodies directly in blood serum or plasma using a recently developed nanoplasmonic biosensor. Our nanoplasmonic device offers sensitive and real-time quantification of autoantibodies with excellent selectivity and reproducibility, achieving limits of detection around 1 nM (150-160 ng mL(-1)). A preliminary evaluation of clinical samples of colorectal cancer patients has shown good correlation with ELISA. These results demonstrate the reliability of the nanobiosensor strategy and pave the way towards the achievement of a sensitive diagnostic tool for early detection of colorectal cancer.

  7. Early Diagnosis of Cutaneous Mucormycosis Due to Lichtheimia corymbifera After a Traffic Accident.

    PubMed

    Tyll, Tomas; Lyskova, Pavlina; Hubka, Vit; Muller, Martin; Zelenka, Lubomir; Curdova, Martina; Tuckova, Inna; Kolarik, Miroslav; Hamal, Petr

    2016-02-01

    A case report of cutaneous mucormycosis and obstacles to early diagnosis is presented. A 38-year-old male was involved in a car accident that led to amputation of both lower limbs. Subsequently, he developed fungal wound infection of the left lower limb stump. The infection was detected very early, although the diagnosis was difficult because only a small area was affected and histopathological examination was initially negative. The infection was proven by microscopy, culture and histopathology. The isolate was identified by sequencing of the rDNA ITS region gene (internal transcribed spacer region of ribosomal DNA) as Lichtheimia corymbifera. Liposomal amphotericin B and surgery were successful in management of the disease.

  8. Assessing the Sociocultural Impacts of Emerging Molecular Technologies for the Early Diagnosis of Alzheimer's Disease

    PubMed Central

    Boenink, Marianne; Cuijpers, Yvonne; van der Laan, Anna Laura; van Lente, Harro; Moors, Ellen

    2011-01-01

    Novel technologies for early diagnosis of Alzheimer's disease (AD) will impact the way society views and deals with AD and ageing. However, such “sociocultural” impacts are hardly acknowledged in standard approaches of technology assessment. In this paper, we outline three steps to assess such broader impacts. First, conceptual analysis of the ideas underlying technological developments shows how these technologies redraw the boundary between Alzheimer's disease and normal ageing and between biological and social approaches of ageing. Second, imaginative scenarios are designed depicting different possible futures of AD diagnosis and societal ways to deal with ageing and the aged. Third, such scenarios enable deliberation on the sociocultural impact of AD diagnostic technologies among a broad set of stakeholders. An early, broad, and democratic assessment of innovations in diagnostics of AD is a valuable addition to established forms of technology assessment. PMID:21941672

  9. Does adenosine deaminase activity play a role in the early diagnosis of ectopic pregnancy?

    PubMed

    Turkmen, G G; Karçaaltıncaba, D; Isık, H; Fidancı, V; Kaayalp, D; Tımur, H; Batıoglu, S

    2016-01-01

    Early diagnosis of ectopic pregnancy (EP) is important due to life-threatening consequences in the first trimester of pregnancy. In this study we aimed to investigate the role of adenosine deaminase (ADA) activity in the prediction of EP. Forty-one patients with unruptured ectopic pregnancy comprised the case group and forty-two first trimester pregnant women with shown foetal heart beating in ultrasound comprised the control group. The mean ADA level in EP (10.9 ± 3.0 IU/L) was higher than that in control group (9.2 ± 3.6 IU/L) (p = 0.018). Receiver operating characteristics or ROC curve identified ADA value of 10.95 IU/L as optimal threshold for the prediction of EP with 56% sensitivity and 67% specificity. High ADA levels are valuable in the early diagnosis of EP. However more comprehensive studies are required.

  10. [Bioethical reflections on ill-considered care due to an early diagnosis of Alzheimer disease].

    PubMed

    Buxó, M Jesús; Casado, María

    2014-01-01

    Early diagnosis of Alzheimer disease raises important bioethical issues. In the interval between early disease detection and symptom onset, there is a time in which the patient's autonomy, privacy, and dignity may be undermined by certain healthcare measures or by family care and support. These measures may eventually turn patients into an object of care, preventing them from accepting the disease, developing an identity, and rearranging their living spaces. Every effort should be made to ensure that care does not become compassionate harassment or an invasive act, annulling the patient's autonomy, identity, and self-determination.

  11. Mandibular Symmetrical Bilateral Canine-Lateral Incisors Transposition: Its Early Diagnosis and Treatment Considerations

    PubMed Central

    Finkelstein, Tamar; Kadry, Rana; Schonberger, Shirley; Shpack, Nir

    2016-01-01

    Bilateral mandibular tooth transposition is a relatively rare dental anomaly caused by distal migration of the mandibular lateral incisors and can be detected in the early mixed dentition by radiographic examination. Early diagnosis and interceptive intervention may reduce the risk of possible transposition between the mandibular canine and lateral incisor. This report illustrates the orthodontic management of bilateral mandibular canine-lateral incisor transposition. Correct positioning of the affected teeth was achieved on the left side while teeth on the right side were aligned in their transposed position. It demonstrates the outcome of good alignment of the teeth in the dental arch. PMID:28119788

  12. Congenital Midline Cervical Cleft: Diagnosis, Pathologic Findings, and Early Stage Treatment

    PubMed Central

    Sinopidis, Xenophon; Kourea, Helen P.; Panagidis, Antonios; Alexopoulos, Vasileios; Tzifas, Sotirios; Dimitriou, Gabriel; Georgiou, George

    2012-01-01

    Congenital midline cervical cleft is a very uncommon malformation of the anterior neck, with less than 100 cases reported in medical literature. Herein we present a case of a female neonate with this anomaly. A detailed description of the macroscopic and microscopic characteristics is performed. As it is derived from the natural history of the lesion, prompt clinical diagnosis, and operative treatment during early infancy predispose to a better aesthetic and functional prognosis. PMID:23094176

  13. Improving outcomes in patients with melanoma: strategies to ensure an early diagnosis

    PubMed Central

    Voss, Rachel K; Woods, Tessa N; Cromwell, Kate D; Nelson, Kelly C; Cormier, Janice N

    2015-01-01

    Patients with thin, low-risk melanomas have an excellent long-term prognosis and higher quality of life than those who are diagnosed at later stages. From an economic standpoint, treatment of early stage melanoma consumes a fraction of the health care resources needed to treat advanced disease. Consequently, early diagnosis of melanoma is in the best interest of patients, payers, and health care systems. This review describes strategies to ensure that patients receive an early diagnosis through interventions ranging from better utilization of primary care clinics, to in vivo diagnostic technologies, to new “apps” available in the market. Strategies for screening those at high risk due to age, male sex, skin type, nevi, genetic mutations, or family history are discussed. Despite progress in identifying those at high risk for melanoma, there remains a lack of general consensus worldwide for best screening practices. Strategies to ensure early diagnosis of recurrent disease in those with a prior melanoma diagnosis are also reviewed. Variations in recurrence surveillance practices by type of provider and country are featured, with evidence demonstrating that various imaging studies, including ultrasound, computed tomography, positron emission tomography, and magnetic resonance imaging, provide only minimal gains in life expectancy, even for those with more advanced (stage III) disease. Because the majority of melanomas are attributable to ultraviolet radiation in the form of sunlight, primary prevention strategies, including sunscreen use and behavioral interventions, are reviewed. Recent international government regulation of tanning beds is described, as well as issues surrounding the continued use artificial ultraviolet sources among youth. Health care stakeholder strategies to minimize UV exposure are summarized. The recommendations encompass both specific behaviors and broad intervention targets (eg, individuals, social spheres, organizations, celebrities

  14. Initial Report on the Use of In-Office Cone Beam Computed Tomography for Early Diagnosis of Osteomyelitis in Diabetic Patients.

    PubMed

    Shih, Chia-Ding; Bazarov, Irina; Harrington, Tara; Vartivarian, Mher; Reyzelman, Alexander M

    2016-03-01

    Osteomyelitis is one of the most feared sequelae of diabetic foot ulceration, which often leads to lower-extremity amputation and disability. Early diagnosis of osteomyelitis increases the likelihood of successful treatment and may limit the amount of bone resected, preserving ambulatory function. Although a variety of techniques exist for imaging the diabetic foot, standard radiography is still the only in-office imaging modality used today. However, radiographs lack sensitivity and specificity, making it difficult to diagnose bone infection at its early stages. In this report, we describe our initial experience with a cone beam computed tomography (CBCT)-based device, which may serve as an accurate and readily available tool for early diagnosis of osteomyelitis in a patient with diabetes. Two patients with infected diabetic foot ulcers were evaluated for osteomyelitis using radiography and CBCT. Positive imaging findings were confirmed by bone biopsy. In both patients, CBCT captured early osteolytic changes that were not apparent on radiographs, leading to early surgical intervention and successful treatment. The CBCT was helpful in facilitating detection and early clinical intervention for osteomyelitis in two diabetic patients with foot ulcers. These results are encouraging and warrant future evaluation.

  15. Ways toward an early diagnosis in Alzheimer’s disease: The Alzheimer’s Disease Neuroimaging Initiative (ADNI)

    PubMed Central

    Mueller, Susanne G.; Weiner, Michael W.; Thal, Leon J.; Petersen, Ronald C.; Jack, Clifford R.; Jagust, William; Trojanowski, John Q.; Toga, Arthur W.; Beckett, Laurel

    2007-01-01

    With the increasing life expectancy in developed countries, the incidence of Alzheimer’s disease (AD) and thus its socioeconomic impact are growing. Increasing knowledge over the last years about the pathomechanisms involved in AD allow for the development of specific treatment strategies aimed at slowing down or even preventing neuronal death in AD. However, this requires also that (1) AD can be diagnosed with high accuracy, because non-AD dementias would not benefit from an AD-specific treatment; (2) AD can be diagnosed in very early stages when any intervention would be most effective; and (3) treatment efficacy can be reliably and meaningfully monitored. Although there currently is no ideal biomarker that would fulfill all these requirements, there is increasing evidence that a combination of currently existing neuroimaging and cerebrospinal fluid (CSF) and blood biomarkers can provide important complementary information and thus contribute to a more accurate and earlier diagnosis of AD. The Alzheimer’s Disease Neuroimaging Initiative (ADNI) is exploring which combinations of these biomarkers are the most powerful for diagnosis of AD and monitoring of treatment effects. PMID:17476317

  16. Computational Intelligence Method for Early Diagnosis Dengue Haemorrhagic Fever Using Fuzzy on Mobile Device

    NASA Astrophysics Data System (ADS)

    Salman, Afan; Lina, Yen; Simon, Christian

    2014-03-01

    Mortality from Dengue Haemorrhagic Fever (DHF) is still increasing in Indonesia particularly in Jakarta. Diagnosis of the dengue shall be made as early as possible so that first aid can be given in expectation of decreasing death risk. The Study will be conducted by developing expert system based on Computational Intelligence Method. On the first year, study will use the Fuzzy Inference System (FIS) Method to diagnose Dengue Haemorrhagic Fever particularly in Mobile Device consist of smart phone. Expert system application which particularly using fuzzy system can be applied in mobile device and it is useful to make early diagnosis of Dengue Haemorrhagic Fever that produce outcome faster than laboratory test. The evaluation of this application is conducted by performing accuracy test before and after validation using data of patient who has the Dengue Haemorrhagic Fever. This expert system application is easy, convenient, and practical to use, also capable of making the early diagnosis of Dengue Haemorraghic to avoid mortality in the first stage.

  17. Low dopamine function in attention deficit/hyperactivity disorder: should genotyping signify early diagnosis in children?

    PubMed

    Gold, Mark S; Blum, Kenneth; Oscar-Berman, Marlene; Braverman, Eric R

    2014-01-01

    Attention deficit/hyperactivity disorder (ADHD) is present in 8% to 12% of children, and 4% of adults worldwide. Children with ADHD can have learning impairments, poor selfesteem, social dysfunction, and an increased risk of substance abuse, including cigarette smoking. Overall, the rate of treatment with medication for patients with ADHD has been increasing since 2008, with ≥ 2 million children now being treated with stimulants. The rise of adolescent prescription ADHD medication abuse has occurred along with a concomitant increase of stimulant medication availability. Of adults presenting with a substance use disorder (SUD), 20% to 30% have concurrent ADHD, and 20% to 40% of adults with ADHD have a history of SUD. Following a brief review of the etiology of ADHD, its diagnosis and treatment, we focus on the benefits of early and appropriate testing for a predisposition to ADHD. We suggest that by genotyping patients for a number of known, associated dopaminergic polymorphisms, especially at an early age, misdiagnoses and/or over-diagnosis can be reduced. Ethical and legal issues of early genotyping are considered. As many as 30% of individuals with ADHD are estimated to either have secondary side-effects or are not responsive to stimulant medication. We also consider the benefits of non-stimulant medication and alternative treatment modalities, which include diet, herbal medications, iron supplementation, and neurofeedback. With the goals of improving treatment of patients with ADHD and SUD prevention, we encourage further work in both genetic diagnosis and novel treatment approaches.

  18. Low Dopamine Function in Attention Deficit/Hyperactivity Disorder: Should Genotyping Signify Early Diagnosis in Children?

    PubMed Central

    Gold, Mark S.; Blum, Kenneth; Oscar-Berman, Marlene; Braverman, Eric R.

    2014-01-01

    Attention deficit/hyperactivity disorder (ADHD) is present in 8% to 12% of children, and 4% of adults worldwide. Children with ADHD can have learning impairments, poor self-esteem, social dysfunction, and an increased risk of substance abuse, including cigarette smoking. Overall, the rate of treatment with medication for patients with ADHD has been increasing since 2008, with > 2 million children now being treated with stimulants. The rise of adolescent prescription ADHD medication abuse has occurred along with a concomitant increase of stimulant medication availability. Of adults presenting with a substance use disorder (SUD), 20% to 30% have concurrent ADHD, and 20% to 40% of adults with ADHD have a history of SUD. Following a brief review of the etiology of ADHD, its diagnosis and treatment, we focus on the benefits of early and appropriate testing for a predisposition to ADHD. We suggest that by genotyping patients for a number of known, associated dopaminergic polymorphisms, especially at an early age, misdiagnoses and/or over-diagnosis can be reduced. Ethical and legal issues of early genotyping are considered. As many as 30% of individuals with ADHD are estimated to either have secondary side-effects or are not responsive to stimulant medication. We also consider the benefits of non-stimulant medication and alternative treatment modalities, which include diet, herbal medications, iron supplementation, and neurofeedback. With the goals of improving treatment of patients with ADHD and SUD prevention, we encourage further work in both genetic diagnosis and novel treatment approaches. PMID:24393762

  19. An electrochemical biosensor to simultaneously detect VEGF and PSA for early prostate cancer diagnosis based on graphene oxide/ssDNA/PLLA nanoparticles.

    PubMed

    Pan, Lung-Hsuan; Kuo, Shin-Hung; Lin, Tzu-Yang; Lin, Chih-Wen; Fang, Po-Yu; Yang, Hung-Wei

    2017-03-15

    Early diagnosis of prostate cancer (PCa) is critical for the prevention of metastasis and for early treatment; therefore, a simple and accurate device must be developed for this purpose. In this study, we reported a novel fabrication method for producing a dual-modality biosensor that can simultaneously detect vascular endothelial growth factor (VEGF) and prostate-specific antigen (PSA) in human serum for early diagnosis of PCa. This biosensor was constructed by coating graphene oxide/ssDNA (GO-ssDNA) on an Au-electrode for VEGF detection, and incorporated with poly-L-lactide nanoparticles (PLLA NPs) for signal amplification and PSA detection. The results showed that this biosensor has wide liner detection ranges (0.05-100ng/mL for VEGF and 1-100ng/mL for PSA), as well as high levels of sensitivity and selectivity (i.e., resisting interference from external factors, such as glucose, ascorbic acid human serum protein, immunoglobulin G, and immunoglobulin M), and demonstrated a high correlation with an enzyme-linked immunosorbent assay for sample detection in patients. Therefore, this biosensor could be utilized for early clinical diagnosis of PCa in the future.

  20. Clinical prediction and diagnosis of neurosyphilis in HIV-infected patients with early Syphilis.

    PubMed

    Dumaresq, Jeannot; Langevin, Stéphanie; Gagnon, Simon; Serhir, Bouchra; Deligne, Benoît; Tremblay, Cécile; Tsang, Raymond S W; Fortin, Claude; Coutlée, François; Roger, Michel

    2013-12-01

    The diagnosis of neurosyphilis (NS) is a challenge, especially in HIV-infected patients, and the criteria for deciding when to perform a lumbar puncture (LP) in HIV-infected patients with syphilis are controversial. We retrospectively reviewed demographic, clinical, and laboratory data from 122 cases of HIV-infected patients with documented early syphilis who underwent an LP to rule out NS, and we evaluated 3 laboratory-developed validated real-time PCR assays, the Treponema pallidum particle agglutination (TPPA) assay, the fluorescent treponemal antibody absorption (FTA-ABS) assay, and the line immunoassay INNO-LIA Syphilis, for the diagnosis of NS from cerebrospinal fluid (CSF) samples of these patients. NS was defined by a reactive CSF-VDRL test result and/or a CSF white blood cell (WBC) count of >20 cells/μl. Thirty of the 122 patients (24.6%) had early NS. Headache, visual symptoms, a CD4 cell count of <500 cells/μl, and viremia, as defined by an HIV-1 RNA count of ≥50 copies/ml, were associated with NS in multivariate analysis (P = <0.001 for each factor). Blood serum rapid plasma reagin (RPR) titers were not associated with early NS (P = 0.575). For the diagnosis of NS, the PCR, FTA-ABS, TPPA, and INNO-LIA assays had sensitivities of 58%, 100%, 68%, and 100%, specificities of 67%, 12%, 49%, and 13%, and negative predictive values of 85%, 100%, 84%, and 100%, respectively. Visual disturbances, headache, uncontrolled HIV-1 viremia, and a CD4 cell count of <500 cells/μl were predictors of NS in HIV-infected patients with early syphilis, while blood serum RPR titers were not; therefore, RPR titers should not be used as the sole criterion for deciding whether to perform an LP in early syphilis. When applied to CSF samples, the INNO-LIA Syphilis assay easily helped rule out NS.

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

    PubMed

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

    2016-01-01

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

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

    PubMed Central

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

    2014-01-01

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

  3. A systematic review of barriers to early presentation and diagnosis with breast cancer among black women

    PubMed Central

    Jones, Claire EL; Maben, Jill; Jack, Ruth H; Davies, Elizabeth A; Forbes, Lindsay JL; Lucas, Grace; Ream, Emma

    2014-01-01

    Objective To explore barriers to early presentation and diagnosis with breast cancer among black women. Design Systematic review. Methods We searched multiple bibliographic databases (January 1991–February 2013) for primary research, published in English, conducted in developed countries and investigating barriers to early presentation and diagnosis with symptomatic breast cancer among black women (≥18 years). Studies were excluded if they did not report separate findings by ethnic group or gender, only reported differences in time to presentation/diagnosis, or reported on interventions and barriers to cancer screening. We followed Cochrane and PRISMA guidance to identify relevant research. Findings were integrated through thematic synthesis. Designs of quantitative studies made meta-analysis impossible. Results We identified 18 studies (6183 participants). Delay was multifactorial, individual and complex. Factors contributing to delay included: poor symptom and risk factor knowledge; fear of detecting breast abnormality; fear of cancer treatments; fear of partner abandonment; embarrassment disclosing symptoms to healthcare professionals; taboo and stigmatism. Presentation appears quicker following disclosure. Influence of fatalism and religiosity on delay is unclear from evidence in these studies. We compared older studies (≥10 years) with newer ones (<10 years) to determine changes over time. In older studies, delaying factors included: inaccessibility of healthcare services; competing priorities and concerns about partner abandonment. Partner abandonment was studied in older studies but not in newer ones. Comparisons of healthy women and cancer populations revealed differences between how people perceive they would behave, and actually behave, on finding breast abnormality. Conclusions Strategies to improve early presentation and diagnosis with breast cancer among black women need to address symptom recognition and interpretation of risk, as well as

  4. [Laparoscopic diagnosis and treatment of early adhesive small bowel obstruction after gynecological surgery].

    PubMed

    Timofeev, M E; Breusenko, V G; Shapoval'iants, S G; Fedorov, E D; Larichev, S E; Kretsu, V N

    2015-01-01

    It is presented the results of diagnostic and curative laparoscopic interventions in 33 patients with acute early adhesive small bowel obstruction. Ileus developed after surgical treatment (laparotomy) of different gynecological diseases. Laparoscopy appeared as the most informative diagnostic method to confirm diagnosis in all patients, to estimate state of abdominal cavity and small pelvis organs what can help to determine method of surgical treatment. Contraindications for laparoscopic surgery were identified in 12 (36.4%) patients and conversion to laparotomy was applied in this group. Postoperative complications were diagnosed in 1 (8.3%) patient. 2 (16.6%) patients died. Early adhesive ileus was resolved laparoscopically in 21 (63.6%) of 33 patients. Recurrent acute early adhesive ileus was detected in 1 (4.7%) patient.

  5. A fully automatic nerve segmentation and morphometric parameter quantification system for early diagnosis of diabetic neuropathy in corneal images.

    PubMed

    Al-Fahdawi, Shumoos; Qahwaji, Rami; Al-Waisy, Alaa S; Ipson, Stanley; Malik, Rayaz A; Brahma, Arun; Chen, Xin

    2016-10-01

    Diabetic Peripheral Neuropathy (DPN) is one of the most common types of diabetes that can affect the cornea. An accurate analysis of the nerve structures can assist the early diagnosis of this disease. This paper proposes a robust, fast and fully automatic nerve segmentation and morphometric parameter quantification system for corneal confocal microscope images. The segmentation part consists of three main steps. First, a preprocessing step is applied to enhance the visibility of the nerves and remove noise using anisotropic diffusion filtering, specifically a Coherence filter followed by Gaussian filtering. Second, morphological operations are applied to remove unwanted objects in the input image such as epithelial cells and small nerve segments. Finally, an edge detection step is applied to detect all the nerves in the input image. In this step, an efficient algorithm for connecting discontinuous nerves is proposed. In the morphometric parameters quantification part, a number of features are extracted, including thickness, tortuosity and length of nerve, which may be used for the early diagnosis of diabetic polyneuropathy and when planning Laser-Assisted in situ Keratomileusis (LASIK) or Photorefractive keratectomy (PRK). The performance of the proposed segmentation system is evaluated against manually traced ground-truth images based on a database consisting of 498 corneal sub-basal nerve images (238 are normal and 260 are abnormal). In addition, the robustness and efficiency of the proposed system in extracting morphometric features with clinical utility was evaluated in 919 images taken from healthy subjects and diabetic patients with and without neuropathy. We demonstrate rapid (13 seconds/image), robust and effective automated corneal nerve quantification. The proposed system will be deployed as a useful clinical tool to support the expertise of ophthalmologists and save the clinician time in a busy clinical setting.

  6. Inferior Alveolar Nerve Injuries Following Implant Placement - Importance of Early Diagnosis and Treatment: a Systematic Review

    PubMed Central

    Juodzbalys, Gintaras

    2014-01-01

    ABSTRACT Objectives The purpose of this article is to systematically review diagnostic procedures and risk factors associated with inferior alveolar nerve injury following implant placement, to identify the time interval between inferior alveolar nerve injury and its diagnosis after surgical dental implant placement and compare between outcomes of early and delayed diagnosis and treatment given based on case series recorded throughout a period of 10 years. Material and Methods We performed literature investigation through MEDLINE (PubMed) electronic database and manual search through dental journals to find articles concerning inferior alveolar nerve injury following implant placement. The search was restricted to English language articles published during the last 10 years, from December 2004 to March 2014. Results In total, we found 33 articles related to the topic, of which 27 were excluded due to incompatibility with established inclusion criteria. Six articles were eventually chosen to be suitable. The studies presented diagnostic methods of inferior alveolar nerve sensory deficit, and we carried out an assessment of the proportion of patients diagnosed within different time intervals from the time the injury occurred. Conclusions Various diagnostic methods have been developed throughout the years for dealing with 1 quite frequent complication in the implantology field - inferior alveolar nerve injury. Concurrently, the importance of early diagnosis and treatment was proved repeatedly. According to the results of the data analysis, a relatively high percentage of the practitioners successfully accomplished this target and achieved good treatment outcomes. PMID:25635209

  7. Early diagnosis of Balo's concentric sclerosis by diffusion tensor tractography: a case report and literature review.

    PubMed

    Nader Kawachi, Juan Alberto; Andrade Magdaleno, María de la Luz; Peñaherrera, Carlos Andrés; Fernández De Lara, Yeni; Lavenant Borja, María Isabel

    2016-03-14

    Balo concentric sclerosis is an infrequent variant of a demyelinating disease related to multiple sclerosis, initially thought to have an acute presentation and a fatal outcome. Recent studies have reported non-fatal forms of Balo concentric sclerosis, focusing on the importance of early diagnosis using magnetic resonance imaging (MRI), along with spectroscopy and diffusion/perfusion sequences. Recently, we have been able to draw a three-dimensional image of a specific bundle of fibers by means of a diffusion tensor technique of the magnetic resonance imaging tractography (t-MRI). We report the case of a young woman presenting with acute and progressive focal neurological symptoms, including right body paresis, whose diagnosis was suggested by MRI and confirmed by pathology to be Balo concentric sclerosis. She was treated with boluses of methylprednisolone, achieving full neurological remission one year after admission. This is, to our knowledge, the first report describing the use of t-MRI for diagnosing BCS. We consider that t-MRI will allow, in a near future, early diagnosis of the disease, its prompt treatment, and establishing new classification criteria. This case confirms the existence of benign forms of Balo concentric sclerosis with a good response to steroid therapy, where functional recovery is possible.

  8. Athlete's hernia--a true, early direct inguinal hernia: diagnosis, pathophysiology, and surgical treatment.

    PubMed

    Chernyavsky, Victoriya S; Davidov, Tomer; Trooskin, Stanley Z; Boyarsky, Andrew

    2011-11-01

    Athlete's hernia (AH) is an activity limiting condition that presents as chronic inguinal pain in elite athletes. The diagnosis involves a thorough history and physical examination and can be aided by ultrasound interrogation of the groin. Operative treatment with a direct tissue repair of the inguinal floor successfully alleviates symptoms and allows for full return to activity. A retrospective analysis of patients with the diagnosis of AH from January 1998 to May 2010 who underwent operative repair was reviewed. Patients were evaluated based on age, gender, sport, time to presentation, subjective and objective physical findings, imaging findings, operative findings, length of follow-up, and return to activity. Ninety-six patients (6 females) with a median age of 22.6 years were evaluated. In the majority of these patients, operative exploration revealed a wide external ring with separation of the fibers of the external oblique aponeurosis and an unprotected and bulging transverses abdominis aponeurosis, very akin to an early direct inguinal hernia. The mean initial follow-up time was 6 weeks at which point all but two of the patients were able to resume their full level of activity without restrictions. The diagnosis of AH, although somewhat elusive, can be easily established with a high degree of suspicion after doing a thorough history and physical exam augmented with ultrasonography. AH is equivalent to an early direct inguinal hernia found in young athletes and can be surgically corrected allowing return to full activity.

  9. [Application evaluation of multi-parametric MRI in the diagnosis and differential diagnosis of early prostate cancer and prostatitis].

    PubMed

    Li, P; Huang, Y; Li, Y; Cai, L; Ji, G H; Zheng, Y; Chen, Z Q

    2016-10-11

    Objective: To evaluate the value of multi-parametric MRI (Mp-MRI) in the diagnosis and differential diagnosis of early prostate cancer(PCa) in the peripheral zone(PZ) and low T2WI signal intensity of prostatitis. Methods: A total of 40 patients with PZ early PCa and 37 with prostatitis of hypointense T2WI signal in PZ were retrospectively analyzed, which were collected from the General Hospital of Ningxia Medical University from Janurary 2009 to June 2015, who underwent T2WI, DWI, and DCE-MRI examination and all patients were confirmed by pathology. All the data was transferred to GE Advanced Workstation AW4.3, the indexes divided into cancerous and prostatitis regions were calculated by Functool2 of signal intensity-time(SI-T) curve and ADC value, to calcuate the time to minimum(Tmax), the whole enhancment degree (SImax). ROC cure was used to determine the cutoff value for PCa detection with the ADC value. Result: On T2WI, 57.5% of PCa (23/40) showed focal nodular homogeneous low signal intensity, 70.3% of prostatitis(26/37) showed diffuse inhomogeneous low signal intensity. DCE-MRI, the distribution of curve types for malignant tumors was type Ⅰ 2.5%(1/40), typeⅡ32.5%(13/40) and type Ⅲ 65.0% (26/40). While the numbers for prostatitis was type Ⅰ 16.2%(6/37) , type Ⅱ 56.8% (21/37) and type Ⅲ 27.0% (10/37)respectively.The patterns of curve types in malignant lesions were different from benign lesions significantly(χ(2) =12.32, P<0.01). The mean values of Tmax, SImax in cancerous and prostatitis regions were (17.96±2.91)s, 1.76%±0.23% and (21.19±3.59)s, 1.53%±0.18%, respectively (t=5.37, 6.10; P<0.01). On DWI, The mean ADC values in cancerous and prostatitis regions were (0.95±0.13)×10(-3) mm(2)/s and (1.12±0.13)×10(-3) mm(2)/s, respectively (t=7.10, P<0.01). According to the ROC analysis, when the cutoff value was 1.01×10(-3) mm(2)/s, the early PCa of diagnostic sensitivity, specificity and accuracy was 79.1%, 72.7% and 76.1% respectively

  10. A magnetic-field enriched surface-enhanced resonance Raman spectroscopy strategy towards the early diagnosis of malaria

    NASA Astrophysics Data System (ADS)

    Clement, Yuen; Liu, Quan

    2012-02-01

    Early malaria diagnosis is important because malaria disease can develop into fatal illness within hours upon the appearance of the first symptom. The low concentration of the diagnosis biomarker, hemozoin, at the early stage of malaria disease makes early diagnosis difficult. In this paper, we present a magnetic field-enriched surface-enhanced resonance Raman spectroscopy (SERRS) strategy for the sensitive detection of β - hematin crystals, which is equivalent to hemozoin in the characteristics of Raman spectrum, by using magnetic nanoparticles. We observe several orders of magnitude enhancement in the SERRS signal of enriched β - hematin in comparison to the Raman signal of β - hematin in the cases of SERRS alone or magnetic enrichment alone, showing the great potential of this method towards early malaria diagnosis.

  11. A magnetic-field enriched surface-enhanced resonance Raman spectroscopy strategy towards the early diagnosis of malaria

    NASA Astrophysics Data System (ADS)

    Yuen, Clement; Liu, Quan

    2012-03-01

    Early malaria diagnosis is important because malaria disease can develop into fatal illness within hours upon the appearance of the first symptom. The low concentration of the diagnosis biomarker, hemozoin, at the early stage of malaria disease makes early diagnosis difficult. In this paper, we present a magnetic field-enriched surface-enhanced resonance Raman spectroscopy (SERRS) strategy for the sensitive detection of β - hematin crystals, which is equivalent to hemozoin in the characteristics of Raman spectrum, by using magnetic nanoparticles. We observe several orders of magnitude enhancement in the SERRS signal of enriched β - hematin in comparison to the Raman signal of β - hematin in the cases of SERRS alone or magnetic enrichment alone, showing the great potential of this method towards early malaria diagnosis.

  12. Giant-cell tumor: analysis on the importance of early diagnosis and the epidemiological profile☆

    PubMed Central

    de Carvalho Diniz Ferraz, Diego Firmino; Torres dos Santos, César Augusto; Farias Costa, Victor Hugo; Gonçalves Souza, Antônio Marcelo; Gomes Lima, Paulo Rogerio

    2016-01-01

    Objective This study aimed to ascertain the relationship between early diagnosis of giant-cell tumors (GCT) and their prognosis, by correlating the time of symptom onset with the staging of the injury (through the Campanacci classification at the time of diagnosis), and with the type of treatment. The secondary objective of the study was to outline the epidemiological profile of patients with GCT in the region where the data were gathered, and to compare them with data in the literature. Methods The authors present an evaluation on 61 patients diagnosed with bone GCT, with regard to the site of involvement, age, initial symptoms, time of symptom onset, classification and type of treatment, among patients attended between May 1994 and August 2009. Results The threshold indicated as the limit for Campanacci stage I tumors to be the commonest diagnosis, with a 98.2% chance that the treatment would be non-aggressive, was 2 months after symptom onset. This finding was statistically significant (p = 0.017). Every additional month increased the chance that a patient would be diagnosed with an advanced-stage tumor by 10.94%, in relation to the chances of having the other two stages of the tumor. Conclusion The study result not only suggests that the alternative hypothesis that the earlier the diagnosis of GCT is, the less severe the lesion will be, has been confirmed; but also especially predicts the relationship between the time of symptom appearance and the severity of the tumor. PMID:26962501

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

    PubMed Central

    Li, Yinghui; Feng, Tao; Sun, Jiandong

    2017-01-01

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

  14. Early diagnosis, treatment and prognosis of epilepsy with continuous spikes and waves during slow sleep

    PubMed Central

    Yuan, Qiang; Li, Fengtong; Zhong, Hongping

    2015-01-01

    The study is to investigate the importance of early diagnosis and treatment to the prognosis of epilepsy with continuous spikes and waves during slow sleep (CSWS). A total of 8 cases of CSWS children were followed up for 6 months to 4 years. Retrospective analysis of the clinical and electroencephalographic (EEG) characteristics, treatment and prognosis was performed in these 8 cases. Of the 8 cases of CSWS patients, 5 were males and 3 were females. Epilepsy onset ages were from 3 years and 1 month to 10 years and 6 months. Five cases of the patients were with brain lesions while the other 3 cases appeared normally by imaging detection. After treatment with valproic acid, clonazepam, lamotrigine and hormone for 3 months, clinical symptoms and EEG were improved significantly in 7 cases. Two cases relapsed at 6 months after comprehensive treatment. For atypical early performance of CSWS, early diagnosis and regular treatment could improve the condition of children with seizures and effectively inhibit the epileptic activity with good prognosis. PMID:26064309

  15. The Role of Pancreatic Stone Protein in Diagnosis of Early Onset Neonatal Sepsis

    PubMed Central

    Rass, Anwar A.; Arafa, Mohamed A.; El-Saadany, Hosam F.; Amin, Ezzat K.; Abdelsalam, Mohamed Mohamed; Mansour, Mona A.; Khalifa, Naglaa A.; Kamel, Lamiaa Mahmoud

    2016-01-01

    Introduction. Early diagnosis and treatment of neonatal sepsis may help decrease neonatal mortality. Aim of the Study. To evaluate the role of pancreatic stone protein as a marker for early onset neonatal sepsis. Methods. A hospital-based prospective study was conducted on 104 (52 uninfected and 52 infected neonates) admitted to the Neonatal Intensive Care Unit (NICU) of Zagazig University hospitals during the period from April 2014 to April 2015. All newborns were subjected to full history taking, careful neonatal assessment, blood, C-reactive protein (CRP), and serum pancreatic stone protein. Results. Serum PSP levels were significantly higher in the infected group than in the uninfected group. At a cutoff level of PSP 12.96 ng/mL, the sensitivity was 96.2%, the specificity was 88.5%, positive predictive value was 95.8%, negative predictive value was 89.3%, and area under the curve was 0.87. A significant positive correlation between CRP and PSP was found in infected group. Conclusion. The high negative predictive value of PSP (89.3%) indicates that the serum PSP level is a good marker for diagnosis of early onset neonatal sepsis and can be used to limit hospital stay and antibiotic use in neonates treated for suspected sepsis. PMID:27689072

  16. [Guidelines for the early diagnosis of lung cancer for primary care physicians].

    PubMed

    2016-01-01

    Lung cancer is a serious/medical and social problem. It belongs to the most common cancers. In the past decades, lung cancer has steadily held a leading place in the structure of cancer morbidity and mortality in our country and in the majority of European countries. Cigarette smoking remains to be the major if not only risk factor for lung cancer. Many attempts were previously made to set up systems for the early (timely) lung cancerdetection in risk groups through cytological and radiological examinations. Prophylactic fluorography and X-ray study have long been an important screening procedure in Russia and foreign countries. Recently this procedure has transformed into digital lung radiography. However, there have been no conclusive proofs for its efficiency in the early detection of lung cancer for a few decades. In the past decade, large-scale prospective randomized trials of low-dose computed tomography (CT) have been performed to screen lung cancer. These have shown that this technology can potentially reduce mortality from this disease. This encouraging result has caused a substantial change in the tactics of examining people at high risk for lung cancer. CT has fully replaced linear tomography and all others special X-ray procedures in the verified diagnosis of lung cancer. The indications for pre-examination CT have been considerably expanded in patients with X-ray detected pathology. The tactics for estimating the small lung tissue foci found at CT has been changed. Availability of CT, clear clinical indications for the study, and observance of the standard procedure have become important elements of the entire system for the early identification of lung cancer. These clinical recommendations largely deal just with organizational and methodological issues. The authors hope that the recommendations will serve as a guide for primary care physicians (therapists, pulmonologists,and radiologists) in the early diagnosis of lung cancer and in the optimization

  17. Advances in Bio-Optical Imaging for the Diagnosis of Early Oral Cancer

    PubMed Central

    Olivo, Malini; Bhuvaneswari, Ramaswamy; Keogh, Ivan

    2011-01-01

    Oral cancer is among the most common malignancies worldwide, therefore early detection and treatment is imperative. The 5-year survival rate has remained at a dismal 50% for the past several decades. The main reason for the poor survival rate is the fact that most of the oral cancers, despite the general accessibility of the oral cavity, are not diagnosed until the advanced stage. Early detection of the oral tumors and its precursor lesions may be the most effective means to improve clinical outcome and cure most patients. One of the emerging technologies is the use of non-invasive in vivo tissue imaging to capture the molecular changes at high-resolution to improve the detection capability of early stage disease. This review will discuss the use of optical probes and highlight the role of optical imaging such as autofluorescence, fluorescence diagnosis (FD), laser confocal endomicroscopy (LCE), surface enhanced Raman spectroscopy (SERS), optical coherence tomography (OCT) and confocal reflectance microscopy (CRM) in early oral cancer detection. FD is a promising method to differentiate cancerous lesions from benign, thus helping in the determination of adequate resolution of surgical resection margin. LCE offers in vivo cellular imaging of tissue structures from surface to subsurface layers and has demonstrated the potential to be used as a minimally invasive optical biopsy technique for early diagnosis of oral cancer lesions. SERS was able to differentiate between normal and oral cancer patients based on the spectra acquired from saliva of patients. OCT has been used to visualize the detailed histological features of the oral lesions with an imaging depth down to 2–3 mm. CRM is an optical tool to noninvasively image tissue with near histological resolution. These comprehensive diagnostic modalities can also be used to define surgical margin and to provide a direct assessment of the therapeutic effectiveness. PMID:24310585

  18. Development of new strategies for early diagnosis of mucormycosis from bench to bedside.

    PubMed

    Walsh, Thomas J; Skiada, Anna; Cornely, Oliver A; Roilides, Emmanuel; Ibrahim, Ashraf; Zaoutis, Theoklis; Groll, Andreas; Lortholary, Olivier; Kontoyiannis, Dimitrios P; Petrikkos, George

    2014-12-01

    Early diagnosis and initiation of amphotericin B (AmB) for treatment of mucormycosis increases survival from approximately 40% to 80%. The central objective of a new study of the European Confederation of Medical Mycology (ECMM) and the International Society for Human and Animal Mycology (ISHAM) Zygomycosis Working Group is to improve the clinical and laboratory diagnosis of mucormycosis. The diagnostic tools generated from this study may help to significantly improve survival from mucormycosis worldwide. The study has three major objectives: to conduct a prospective international registration of patients with mucormycosis using a well-established global network of centres; to construct a predictive risk model for patients at risk for mucormycosis; and to establish an international archive of specimens of tissues, fluids, and organisms linked from the patients enrolled into the registry that will be used for development of leading edge molecular, proteomic, metabolic and antigenic systems for mucormycosis.

  19. A Guide to Screening for the Early and Periodic Screening, Diagnosis and Treatment Program (EPSDT) Under Medicaid.

    ERIC Educational Resources Information Center

    Frankenburg, William K.; North, A. Frederick, Jr.

    The manual was designed to help public officials, physicians, nurses, and others to plan and implement an Early and Periodic Screening, Diagnosis and Treatment (EPSDT) program under Medicaid. Procedures for carrying out components of an EPSDT program are recommended. Part 1 discusses organization and administration of screening, diagnosis, and…

  20. Early Diagnosis of Cerebral X-linked Adrenoleukodystrophy in Boys with Addison’s Disease Improves Survival and Neurological Outcomes

    PubMed Central

    Polgreen, LE; Chahla, S; Miller, W; Rothman, S.; Tolar, J; Kivisto, T; Nascene, D.; Orchard, PJ; Petryk, A

    2011-01-01

    Approximately one-third of boys with X-linked adrenoleukodystophy (X-ALD) develop an acute, progressive inflammatory process of the central nervous system, resulting in rapid neurologic deterioration and death. Hematopoietic cell transplantation (HCT) can halt the progression of neurologic disease if performed early in the course of the cerebral form of X-ALD. We describe a retrospective cohort study of 90 boys with X-ALD evaluated at our institution between 2000 and 2009, to determine if early diagnosis of X-ALD following the diagnosis of unexplained adrenal insufficiency (AI) improves outcomes. We describe 7 cases with a delay in the diagnosis of X-ALD, and compare their outcomes to 10 controls with the diagnosis of ALD made within 12 months following diagnosis of AI. At the time of evaluation for HCT, boys with a delay in the diagnosis of X-ALD had more extensive cerebral involvement and more limited functioning. These boys also were 3.9 times more likely to die, and had significant advancement of cerebral disease after HCT, compared to boys with a timely diagnosis of X-ALD. Conclusion Early diagnosis of cerebral X-ALD following the diagnosis of unexplained AI, and subsequent treatment with HCT, improves both neurological outcomes and survival in boys with cerebral X-ALD. PMID:21279382

  1. Homocysteine as a predictive biomarker in early diagnosis of renal failure susceptibility and prognostic diagnosis for end stages renal disease.

    PubMed

    Amin, Hatem K; El-Sayed, Mohamed-I Kotb; Leheta, Ola F

    2016-09-01

    Glomerular filtration rate and/or creatinine are not accurate methods for renal failure prediction. This study tested homocysteine (Hcy) as a predictive and prognostic marker for end stage renal disease (ESRD). In total, 176 subjects were recruited and divided into: healthy normal group (108 subjects); mild-to-moderate impaired renal function group (21 patients); severe impaired renal function group (7 patients); and chronic renal failure group (40 patients) who were on regular hemodialysis. Blood samples were collected, and serum was separated for analysis of total Hcy, creatinine, high sensitive C-reactive protein (CRP), serum albumin, and calcium. Data showed that Hcy level was significantly increased from normal-to-mild impairment then significantly decreases from mild impairment until the patient reaches severe impairment while showing significant elevation in the last stage of chronic renal disease. Creatinine level was increased in all stages of kidney impairment in comparison with control. CRP level was showing significant elevation in the last stage. A significant decrease in both albumin and calcium was occurred in all stages of renal impairment. We conclude Hcy in combination with CRP, creatinine, albumin, and calcium can be used as a prognostic marker for ESRD and an early diagnostic marker for the risk of renal failure.

  2. [The new concept of osteoporosis. Early diagnosis, prevention and therapy are possible today].

    PubMed

    Hesch, R D; Harms, H; Rittinghaus, E F; Brabant, G

    1990-04-15

    A paradigma of osteoporosis pathology is discussed, at the center of which is the hormone-related disturbance of the osteoblast/osteoclast functional unit. A liberal replacement of estrogen-gestagen in post-menopausal women is advocated. Early diagnosis with the aid of quantitative computed tomography makes it possible to establish the indication for timely hormonal treatment in the future, which can result in a measureable increase in bone mass. Late therapy, that is, treatment initiated after the occurrence of fractures, has proven largely ineffective.

  3. Sjögren-Larsson syndrome: importance of early diagnosis and aggressive physiotherapy.

    PubMed

    Kathuria, Sushruta; Arora, Shikha; Ramesh, V

    2012-09-15

    Sjögren-Larsson syndrome (SLS) is a congenital ichthyotic disorder with spasticity. We describe a case of a 5-year-old boy with SLS diagnosed clinically based on congenital ichythosis, quadriplegia, and mental retardation. The child responded well to emollients and antihistamines. His quadriplegia was managed by aggressive physiotherapy and mental retardation by stimulation techniques. After a 3-year follow up, significant improvement was seen in his motor and mental disability. This case highlights the importance of clinical diagnosis and early intervention for such a disabling disorder.

  4. Early diagnosis of acute postoperative renal transplant rejection by indium-111-labeled platelet scintigraphy

    SciTech Connect

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

    1986-08-01

    A prospective evaluation of /sup 111/In-labeled platelet scintigraphy (IPS) for the early diagnosis of acute postoperative renal transplant rejection (TR) was undertaken. The results of IPS were compared with in vitro biochemical tests, the clinical finding of graft tenderness, and combined (/sup 99m/Tc)DTPA and (/sup 131/I)orthoiodohippurate scintigraphy. With a sensitivity of 0.93 and a specificity of 0.95, IPS provided otherwise unavailable diagnostic information. Furthermore, postoperative IPS was a good predictor of long-term allograft survival.

  5. Magnetic resonance imaging applications in early rheumatoid arthritis diagnosis and management.

    PubMed

    Troum, Orrin M; Pimienta, Olga; Olech, Ewa

    2012-05-01

    Early diagnosis and treatment have been recognized as essential for improving clinical outcomes in patients with rheumatoid arthritis (RA). Magnetic resonance imaging (MRI) is a sensitive modality that can assess both inflammatory and structural lesions. MRI can assist in following the disease course in patients treated with traditional disease-modifying antirheumatic drugs and biological therapies both in the clinic and in research trials. Therefore, it is anticipated that MRI becomes the diagnostic imaging modality of choice in RA clinical trials while remaining a useful tool for clinicians evaluating patients with RA.

  6. [The importance of early diagnosis and intervention in children diagnosed with reading disorder. Case studies].

    PubMed

    Törö, Krisztina; Balázs, Judit

    2015-06-01

    Reading Disorder (RD) belongs to Specific Learning Disorders within the chapter of Neurodevelopmental Disorders in the Diagnostic and Statistic Manual of Mental Disorders 5th edition. Previous research shows that the time of the diagnosis of RD - early (before starting school) or late - has a great impact on the prognosis. In the current paper we present the cases of two children diagnosed with RD. Our cases demonstrate that if RD is diagnosed in early childhood, the child's and his/her family's quality of life can be influenced in a positive direction, while late recognition of RD might influence the child's and the family's quality of life negatively. For these reasons it is important that experts recognize RD in time, start appropriate treatment and give proper support to children diagnosed with RD and their families.

  7. Endoscopic diagnosis of early carcinoma of the esophagus using Lugol's solution.

    PubMed

    Sugimachi, K; Kitamura, K; Baba, K; Ikebe, M; Kuwano, H

    1992-01-01

    Small esophageal lesions, particularly intraepithelial cancers, are extremely difficult to detect. We used Lugol's iodine solution with panendoscopic examination to detect the presence and spread of small squamous cell carcinomas of the esophagus. Serial histologic specimens of the surgically removed esophagus from 32 patients with Lugol's combined endoscopic diagnosis of early esophageal carcinoma were examined to determine the correlation between endoscopic and histologic findings. All of the early staged carcinomas clearly remained unstained by Lugol's solution. We believe that the application of Lugol's solution will greatly aid in instances when a suspicious mucosal lesion is noted, when the margin of the lesion is unclear, or when there is suspicion that a mucosal lesion may have been overlooked.

  8. Early diagnosis of genital mucosal melanoma: how good are our dermoscopic criteria?

    PubMed Central

    Rogers, Tova; Pulitzer, Melissa; Marino, Maria L.; Marghoob, Ashfaq A.; Zivanovic, Oliver; Marchetti, Michael A.

    2016-01-01

    Background There are limited studies on the dermoscopic features of mucosal melanoma, particularly early-stage lesions. Described criteria include the presence of blue, gray, or white colors, with a reported sensitivity of 100%. It is unclear if these features will aid in the detection of early mucosal melanoma or improve diagnostic accuracy compared to naked-eye examination alone. Case An Asian female in her fifties was referred for evaluation of an asymptomatic, irregularly pigmented patch of the clitoral hood and labia minora of unknown duration. Her past medical history was notable for Stage IV non-small cell lung cancer. She denied a personal or family history of skin cancer. Dermoscopic evaluation of the vulvar lesion revealed heterogeneous brown and black pigmentation mostly composed of thick lines. There were no other colors or structures present. As the differential diagnosis included vulvar melanosis and mucosal melanoma, the patient was recommended to undergo biopsy, which was delayed due to complications from her underlying lung cancer. Repeat dermoscopic imaging performed three months later revealed significant changes concerning for melanoma, including increase in size, asymmetric darkening, and the appearance of structureless areas and central blue and pink colors. Histopathological examination of a biopsy and subsequent resection confirmed the diagnosis of melanoma in situ. Conclusion Previously described dermoscopic features for mucosal melanoma may not have high sensitivity for early melanomas. Additional studies are needed to define the dermoscopic characteristics of mucosal melanomas that aid in early detection. Health care providers should have a low threshold for biopsy of mucosal lesions that show any clinical or dermoscopic features of melanoma, especially in older women. PMID:27867747

  9. Guidelines for Screening, Early Diagnosis and Management of Severe Combined Immunodeficiency (SCID) in India.

    PubMed

    Madkaikar, Manisha; Aluri, Jahnavi; Gupta, Sudhir

    2016-05-01

    Severe combined immunodeficiency (SCID) is one of the most severe and fatal forms of inherited primary immunodeficiency. Early diagnosis of SCID improves the outcome of life before and after hematopoietic stem cell transplant (HSCT). SCID fulfills the internationally-established criteria for a condition to be screened for at birth. T cell receptor excision circle (TREC) assay is commonly used in western countries as part of newborn blood spot screening (NBS) program as the assay has high sensitivity and specificity to identify SCID infants, allowing early intervention and curative bone marrow (BM) transplantation. In India, the blood spot based screening programs are yet to mature into a full-fledged national program. Moreover, TREC assay, a PCR based test, is not widely available and may cost USD 5-7 per test; thus limiting its applicability for screening newborns in Indian scenario. Most of the SCID patients have lymphopenia at birth and routine evaluation for absolute lymphocyte count (ALC) on cord blood samples can help in pre-symptomatic detection and early intervention for neonates with SCID. Although ALC count lacks the sensitivity and specificity of TREC assay; its lower cost and widespread availability makes it an attractive option for identifying newborns with lymphopenia during the post-partum hospital stay. BCG vaccine and other live attenuated vaccines (e.g., oral polio vaccine) should be withheld in lymphopenic infants until SCID is excluded by clinical and/or immunological work-up. A diagnosis of SCID warrants immediate care to prevent and treat infections and wherever feasible, early stem cell transplantation for disease free survival.

  10. Early Diagnosis and Prediction of Anticancer Drug-induced Cardiotoxicity: From Cardiac Imaging to "Omics" Technologies.

    PubMed

    Madonna, Rosalinda

    2017-02-25

    Heart failure due to antineoplastic therapy remains a major cause of morbidity and mortality in oncological patients. These patients often have no prior manifestation of disease. There is therefore a need for accurate identification of individuals at risk of such events before the appearance of clinical manifestations. The present article aims to provide an overview of cardiac imaging as well as new "-omics" technologies, especially with regard to genomics and proteomics as promising tools for the early detection and prediction of cardiotoxicity and individual responses to antineoplastic drugs.

  11. Recommendations for early diagnosis and intervention in autism spectrum disorders: an Italian-Israeli consensus conference.

    PubMed

    Zachor, Ditza A; Curatolo, Paolo

    2014-03-01

    On April 2013 experts in the field of autism from Italy and Israel convened in Jerusalem to discuss and finalize clinical recommendations for early diagnosis and intervention in Autism Spectrum Disorders (ASDs). In this paper, we summarize the results of this Italian-Israeli consensus conference. ASDs constitute a class of severe and heterogeneous neurodevelopmental conditions caused by atypical brain development beginning during early prenatal life, reflecting many genetic, neurobiological and environmental influences. The first clinical signs of ASDs begin to be evident in children between 12 and 18 months of age, often after a period of relatively typical postnatal development. Recent longitudinal studies reveal substantial diversity in developmental trajectories through childhood and adolescence. Some intervention approaches have been demonstrated to be effective in improving core symptoms of ASDs, even if the heterogeneity and developmental nature of the disorder make it implausible that only one specific treatment will be best for all children with ASDs. More randomized control trials (RCTs) on early intervention are needed to identify the most effective strategies and provide the most efficient allocation of resources during the critical early intervention time period. Future research should focus on linking biological phenotypes with specific genotypes, thus establishing a foundation for the development of diagnostic screening tools and individualization of treatments.

  12. Orthopedic Lesions in Tethered Cord Syndrome: The Importance of Early Diagnosis and Treatment on Patient Outcome

    PubMed Central

    Gharedaghi, Mohammad; Samini, Fariborz; Mashhadinejad, Hosein; Khajavi, Mahdi; Samini, Mohammad

    2014-01-01

    Background: Many of the patients with tethered cord syndrome (TCS) are admitted because of neurological symptoms, while some are admitted because of their orthopedic, urologic, anorectal, and dermatologic manifestations. Consequently, this study aimed to evaluate the importance of early diagnosis and treatment of tethered cord syndrome on patient outcome. Methods: Fourty-three patients who underwent surgery because of tethered cord syndrome from 2006 to 2010 were studied. Many of these cases were referred by orthopedic surgeons. All of the findings were recorded and follow up was done twice (1 and 3 years after surgery). Results: Thirty-seven patients were less than 7 years old and 6 were between 17 to 33 years old. According to clinical and neurological exams, satisfactory results were achieved in both groups. Those with early surgical intervention, especially in their early follow up assessment, had the best results. Seventeen cases were referred by an orthopedic surgeon because of manifestations such as leg weakness and numbness, leg pain and spasticity, pes cavus, claw toes, and leg or foot length discrepancy. Cerebrospinal fluid leakage occurred in 3 cases after surgery and 1 showed pseudomeningocele formation. Conclusions: After one year of follow up, initially the results of the treatment were better in early operated cases, but in later follow up assessment (after 3 years) the results were almost the same in both of the groups. PMID:25207325

  13. [Usefulness of the early molecular diagnosis of Q fever and rickettsial diseases in patients with fever of intermediate duration].

    PubMed

    Bolaños-Rivero, Margarita; Carranza-Rodríguez, Cristina; Hernández-Cabrera, Michele; Pisos-Álamo, Elena; Jaén-Sánchez, Nieves; Pérez-Arellano, José-Luis

    2016-03-26

    Most cases of fever of intermediate duration (FDI) in Spain are associated with infectious diseases (mainly Q fever and rickettsia infections). In clinical practice, the causal diagnosis of these entities is based on immunodiagnostic techniques, which are of little help in the early stages. Therefore, the aim of this study was to evaluate the usefulness of molecular techniques for the early diagnosis of Q fever and rickettsia diseases in patients with FDI. A PCR method was used to detect the presence of genetic material of Coxiella burnetii and Rickettsia spp. in blood specimens from 271 patients with FDI. The specificity of both techniques is high, allowing diagnosis in cases undiagnosed by specific antibodies detection. These data suggest that the use of molecular techniques, with proper selection of the study specimen, and using appropriate primers is a useful tool in the early diagnosis of the main causes of FDI, especially if serology is negative or inconclusive.

  14. Early and correct diagnosis of celiac disease in the prevention of growth disorders and child development.

    PubMed

    Brigic, Esad; Hadzic, Devleta; Mladina, Nada

    2012-01-01

    Coeliac, in ordinary people known as "flour allergy" and in medicine world known as gluten enteropathy which means enteric damage caused by gluten. Data about incidence of gluten enteropathy is different in different countries around the World and depend on is it or is it not the right diagnosis for enteric disorder. Sometimes, this disease is unrecognized because of unspecific clinical signs. This disease is happening in every moment of a lifetime, most common during the childhood when the children try to eat any food which contains gluten. Anyway, if children had no symptoms it doesn't¢t mean that disease not exists, and that¢is because we have to do diagnostic tests to confirm gluten enteropathy. Gluten intolerance is chronic disease and demand use of the specific non gluten food during the lifetime. Early diagnosis is right way to prevent unregularly growth. Aim of this study was to show the influence of early diagnostic about growth. For each patient we had a permission of parents and we showed our original results for three month we investigated.

  15. Behavior of College Students in Health Related Departments Towards Early Diagnosis of Breast Cancer

    PubMed Central

    İlhan, Nesrin; Çöl, Ayşe Gülnur; Tanboğa, Emine; Şengül, Alaattin; Batmaz, Makbule

    2014-01-01

    Objective The study was performed in order to determine the behavior of college students studying in health related departments for the early diagnosis of breast cancer. Materials and Methods This study is a cross sectional study. 336 female students studying in School of Nursing and School of Health Sciences at a foundation university in Istanbul were included. A questionnaire directed to collect data regarding the participants’ socio-demographic characteristics and their behavior on the early diagnosis of breast cancer was used. Data were evaluated by descriptive statistics and chi-square test. Results The mean age of students was 21.26±1.94, and 30.7% of the participants majored in nutrition, 29.2% in nursing, 22.9% in midwifery, 17.3% in physical therapy and rehabilitation departments. It was determined that 53.3% of the students made regular breast self-examination (BSE), and 88.1% did not get a clinical breast examination (CBE) within the last year. It was noticed that students who had BSE training, made more BSE and CBE as compared to those who did not get any education. Students with family history of breast cancer was performing more BSE that those without a family history. It was identified that students with BSE training and family history of breast cancer used BSE at a higher rate. Conclusion It was identified that students with BSE training and family history of breast cancer usage of techniques to perform a BSE at a higher rate.

  16. Prototype system of laser transillumination computed tomography for early diagnosis of rheumatoid arthritis

    NASA Astrophysics Data System (ADS)

    Sasaki, Yoshiaki; Tanosaki, Shinji; Suzuki, Jota; Emori, Ryota; Inage, Hiroki; Yuasa, Tetsuya; Takagi, Michiaki; Ishikawa, Akira; Taniguchi, Hiroshi; Devaraj, Balasigamani; Akatsuka, Takao

    2003-07-01

    So far we have shown, through various preliminary imaging experiments with small-animal ankle"s and human finger"s joints both healthy and joint-diseased, that early diagnosis for joint disease such as rheumatoid arthritis (RA) is feasible using a transillumination laser CT. For a practical purpose, we have recently proposed and developed a transillumination laser CT imaging system using optical fibers based on the optical heterodyne detection method for a clinical use. In the proposed system, motion-artifact free images can be obtained because measurements can be performed with the object fixed. In addition, use of fiber-optics enables portability, and robustness against environmental changes in a room, such as variable temperature, air-flow shifts, and unexpected vibrations. The imaging system has the following sensing properties: spatial resolution of 500 μm, a dynamic range of approximately 120 dB, and a minimum-detectable-optical power of 10-14 W as a result of the excellent properties of the heterodyne detection technique. In the present paper, we describe a prototype laser CT imaging system using optical fibers for early diagnosis of joint disease such as rheumatoid arthritis by demonstrating the first in vivo tomographic image of a volunteer"s index finger joint as well as the fundamental imaging properties.

  17. Vitronectin: a promising breast cancer serum biomarker for early diagnosis of breast cancer in patients.

    PubMed

    Hao, Wende; Zhang, Xuhui; Xiu, Bingshui; Yang, Xiqin; Hu, Shuofeng; Liu, Zhiqiang; Duan, Cuimi; Jin, Shujuan; Ying, Xiaomin; Zhao, Yanfeng; Han, Xiaowei; Hao, Xiaopeng; Fan, Yawen; Johnson, Heather; Meng, Di; Persson, Jenny L; Zhang, Heqiu; Feng, XiaoYan; Huang, Yan

    2016-07-01

    Breast cancer is the most common cancer in women worldwide, identification of new biomarkers for early diagnosis and detection will improve the clinical outcome of breast cancer patients. In the present study, we determined serum levels of vitronectin (VN) in 93 breast cancer patients, 30 benign breast lesions, 9 precancerous lesions, and 30 healthy individuals by enzyme-linked immunosorbent assays. Serum VN level was significantly higher in patients with stage 0-I primary breast cancer than in healthy individuals, patients with benign breast lesion or precancerous lesions, as well as those with breast cancer of higher stages. Serum VN level was significantly and negatively correlated with tumor size, lymph node status, and clinical stage (p < 0.05 in all cases). In addition, VN displayed higher area under curve (AUC) value (0.73, 95 % confidence interval (CI) [0.62-0.84]) than carcinoembryonic antigen (CEA) (0.64, 95 % CI [0.52-0.77]) and cancer antigen 15-3 (CA 15-3) (0.69, 95 % CI [0.58-0.81]) when used to distinguish stage 0-I cancer and normal control. Importantly, the combined use of three biomarkers yielded an improvement in receiver operating characteristic curve with an AUC of 0.83, 95 % CI [0.74-0.92]. Taken together, our current study showed for the first time that serum VN is a promising biomarker for early diagnosis of breast cancer when combined with CEA and CA15-3.

  18. The importance of early diagnosis and treatment of kaposiform hemangioendothelioma complicated by Kasabach-Merritt phenomenon

    PubMed Central

    Vivas-Colmenares, Grecia V.; Ramirez-Villar, Gema L.; Bernabeu-Wittel, Jose; Matute de Cardenas, Jose A.; Fernandez-Pineda, Israel

    2015-01-01

    Kaposiform hemangioendothelioma (KHE) is a locally aggressive vascular tumor that may be complicated by Kasabach-Merritt phenomenon (KMP), a profound thrombocytopenia resulting from platelet trapping within a vascular tumor, either KHE or tufted angioma (TA). Typical features also include low fibrinogen and elevated D-dimers. It is well known that KMP is not caused by infantile hemangiomas. Management of vascular tumors complicated by KMP is challenging, and it is common for referral centers to receive patients in critical medical condition after multimodality treatment failure of vascular anomalies. Our aim is to communicate the importance of early diagnosis and treatment of KHE associated with KMP. A full-term male newborn with KHE complicated by KMP is reported. Treatment with vincristine, aspirin and ticlopidine normalized the coagulation parameters within one week, requiring a total of six doses of vincristine, seven months of ticlopidine and 17 months of aspirin. Early diagnosis and treatment of KHE complicated by KMP may allow the administration of fewer doses of vincristine and avoid the use of corticosteroids. PMID:25692091

  19. [Research on Early Diagnosis of Gastric Cancer by the Surface Enhanced Raman Spectroscopy of Human Hemoglobin].

    PubMed

    Wang, Wei; Pan, Zhi-feng; Tang, Wei-yue; Li, Yun-tao; Fan, Chun-zhen

    2015-12-01

    Early diagnosis have great positive effect on the treatment of gastric cancer patients. Raman spectroscopy can provide a useful monitor for hemoglobin dynamics. Besides, Raman spectroscopy has notable advantages in the fields of abnormal hemoglobin diagnosis, hemoglobin oxygen saturation deter mination and blood methemoglobin analysis. In this paper, novel silver colloid was synthesized by microwave heated method. The surface enhanced Raman spectrums of hemoglobin from 11 normal persons and 20 gastric cancer patients are measured and analyzed in order to obtain spectrums which are high repeatability and characteristic peaks protruding. By analyzing the assignations of the SERS bands, it found that the content of asparagine, tyrosine and phenylalanine in the hemoglobin are significantly lower than healthy people. Discussing the structure of hemoglobin, when hemoglobin combines with oxygen, Fe²⁺ is in a low spin state, ionic radius shrinks and moves 0. 075 nm and fall into the pore in the middle of the heme porphyrin ring plane. This spatial variation affects F8His connected with the iron, will narrow the gap between the globin in the two strands of the helix, as a result, HC2 tyrosine pushed out of the void. Using this mechanism, the absorption peak of 1 560 cm⁻¹ confirmed that the tyrosine content in patients with gastric cancer was lower than that of normal people. Principal component analysis(PCA) is employed to get a three-dimensional scatter plot of PC scores for the health and cancer groups, and it can be learned that they are distributed in separate areas. By using the method of discriminate analysis, it is found that the diagnostic algorithm separates the two groups with sensitivity of 90.0% and diagnostic specificity of 90.9%, the overall diagnostic accuracy was 90.3%. The results from this exploratory study demonstrate that, SERS detection of oxyhemoglobin combined with multivariate analysis would be an effective method for early diagnosis of gastric

  20. Gram staining of protected pulmonary specimens in the early diagnosis of ventilator-associated pneumonia.

    PubMed

    Mimoz, O; Karim, A; Mazoit, J X; Edouard, A; Leprince, S; Nordmann, P

    2000-11-01

    We evaluated prospectively the use of Gram staining of protected pulmonary specimens to allow the early diagnosis of ventilator-associated pneumonia (VAP), compared with the use of 60 bronchoscopic protected specimen brushes (PSB) and 126 blinded plugged telescopic catheters (PTC) obtained from 134 patients. Gram stains were from Cytospin slides; they were studied for the presence of microorganisms in 10 and 50 fields by two independent observers and classified according to their Gram stain morphology. Quantitative cultures were performed after serial dilution and plating on appropriate culture medium. A final diagnosis of VAP, based on a culture of > or = 10(3) c.f.u. ml-1, was established after 81 (44%) samplings. When 10 fields were analysed, a strong relationship was found between the presence of bacteria on Gram staining and the final diagnosis of VAP (for PSB and PTC respectively: sensitivity 74 and 81%, specificity 94 and 100%, positive predictive value 91 and 100%, negative predictive value 82 and 88%). The correlation was less when we compared the morphology of microorganisms observed on Gram staining with those of bacteria obtained from quantitative cultures (for PSB and PTC respectively: sensitivity 54 and 69%, specificity 86 and 89%, positive predictive value 72 and 78%, negative predictive value 74 and 84%). Increasing the number of fields read to 50 was associated with a slight decrease in specificity and positive predictive value of Gram staining, but with a small increase in its sensitivity and negative predictive value. The results obtained by the two observers were similar to each other for both numbers of fields analysed. Gram staining of protected pulmonary specimens performed on 10 fields predicted the presence of VAP and partially identified (using Gram stain morphology) the microorganisms growing at significant concentrations, and could help in the early choice of the treatment of VAP. Increasing the number of fields read or having the Gram

  1. Utility of Early MRI in the Diagnosis and Management of Acute Spontaneous Intracerebral Hemorrhage

    PubMed Central

    Wijman, Christine A.C.; Venkatasubramanian, Chitra; Bruins, Sara; Fischbein, Nancy; Schwartz, Neil

    2010-01-01

    Background The optimal diagnostic evaluation for spontaneous intracerebral hemorrhage (ICH) remains controversial. In this retrospective study, we assessed the utility of early magnetic resonance imaging (MRI) in ICH diagnosis and management. Methods Eighty-nine (72%) of 123 patients with spontaneous ICH underwent a brain CT and MRI within 30 days of ICH onset. Seventy patients with a mean age of 62 ± 15 years were included. A stroke neurologist and a general neurologist, each blinded to the final diagnosis, independently reviewed the admission data and the initial head CT and then assigned a presumed ICH cause under 1 of 9 categories. ICH cause was potentially modified after subsequent MRI review. The final ‘gold standard’ ICH etiology was determined after review of the complete medical record by an independent investigator. Change in diagnostic category and confidence and the potential impact on patient management were systematically recorded. Results Mean time to MRI was 3 ± 5 days. Final ICH diagnosis was hypertension or cerebral amyloid angiopathy (CAA) in 50% of patients. After MRI review the stroke neurologist changed diagnostic category in 14%, diagnostic confidence in an additional 23% and management in 20%, and the general neurologist did so in 19, 21 and 21% of patients, respectively. MRI yield was highest in ICH secondary to ischemic stroke, CAA, vascular malformations and neoplasms, and did not differ by age, history of hypertension, hematoma location or the presence of intraventricular hemorrhage. Conclusions The results of this study suggest potential additive clinical benefit of early MRI in patients with spontaneous ICH. PMID:20733299

  2. AuNPs modified, disposable, ITO based biosensor: Early diagnosis of heat shock protein 70.

    PubMed

    Sonuç Karaboğa, Münteha Nur; Şimşek, Çiğdem Sayıklı; Sezgintürk, Mustafa Kemal

    2016-10-15

    This paper describes a novel, simple, and disposable immunosensor based on indium-tin oxide (ITO) sheets modified with gold nanoparticles to sensitively analyze heat shock protein 70 (HSP70), a potential biomarker that could be evaluated in diagnosis of some carcinomas. Disposable ITO coated Polyethylene terephthalate (PET) electrodes were used and modified with gold nanoparticles in order to construct the biosensors. Optimization and characterization steps were analyzed by electrochemical techniques such as electrochemical impedance spectroscopy (EIS) and cyclic voltammetry (CV). Surface morphology of the biosensor was also identified by electrochemical methods, scanning electron microscopy (SEM), and atomic force microscopy (AFM). To interpret binding characterization of HSP70 to anti-HSP70 single frequency impedance method was successfully operated. Moreover, the proposed HSP70 immunosensor acquired good stability, repeatability, and reproducibility. Ultimately, proposed biosensor was introduced to real human serum samples to determine HSP70 sensitively and accurately.

  3. The Primary Care Physician in the Early Diagnosis of Systemic Sclerosis: the Cornerstone of Recognition and Hope

    PubMed Central

    Saketkoo, Lesley Ann; Magnus, Jeanette H.; Doyle, Mittie K.

    2013-01-01

    Systemic sclerosis (SSc) is a disease of unknown etiology that manifests as a heterogeneous group of multi-organ system manifestations and is characterized by vasculopathy and fibrosis of the skin and internal organs, with mortality related to pulmonary, cardiac, renal or gastrointestinal involvement. The prevalence of SSc may be underestimated in the general population. Cases are often undiagnosed or misdiagnosed, particularly cases with mild or no skin manifestations. Due to late referrals to rheumatologic care, many moderate-to-severe cases progress to irreversible end-organ damage that might have been prevented by early diagnosis. Early diagnosis of SSc with initiation of appropriate treatment is essential, with great impact on morbidity and mortality. This review examines presenting features, ensuing complications and treatment providing a focus on SSc as a treatable disease. Primary care providers play a pivotal role in recognizing initial symptoms associated with SSc and securing early diagnosis through early referral to specialists. PMID:24366221

  4. Novel, In-House, SYBR Green Based One-Step rRT-PCR: Rapid and Accurate Diagnosis of Crimean-Congo Hemorrhagic Fever Virus in Suspected Patients From Iran

    PubMed Central

    Zahraei, Bentolhoda; Hashemzadeh, Mohammad Sadegh; Najarasl, Mohammad; Zahiriyeganeh, Samaneh; Tat, Mahdi; Metanat, Maliheh; Sepehri Rad, Nahid; Khansari-nejad, Behzad; Zafari, Ehsan; Sharti, Mojtaba; Dorostkar, Ruhollah

    2016-01-01

    Background The Crimean-Congo hemorrhagic fever (CCHF) virus causes severe disease in humans, with a high mortality rate. Since, there is no approved vaccine or specific treatment for CCHF, an early and accurate diagnosis, as well as reliable surveillance, is essential for case management and patient improvement. Objectives For this research, our aim was to evaluate the application of a novel SYBR Green based one-step real-time reverse-transcriptase polymerase chain reaction (rRT-PCR) assay for the in-house diagnosis of the CCHF virus. Patients and Methods In this experimental study, the highly conserved S-region sequence of the CCHF viral genome was first adapted from GenBank, and the specific primers targeting this region were designed. Then, the viral RNA was extracted from 75 serum samples from different patients in eastern Iran. The sensitivity and specificity of the primers were also evaluated in positive serum samples previously confirmed to have the CCHF virus, by this one-step rRT-PCR assay, as well as a DNA sequencing analysis. Results From a total of 75 suspected serum samples, 42 were confirmed to be positive for CCHF virus, with no false-positives detected by the sequencing results. After 40 amplification cycles, the melting curve analysis revealed a mean melting temperature (Tm) of 86.5 ± 0.6°C (quite different from those of the primer-dimers), and the positive samples showed only a small variation in the parameters. In all of the positive samples, the predicted length of 420 bp was confirmed by electrophoresis. Moreover, the sensitivity test showed that this assay can detect less than 20 copies of viral RNA per reaction. Conclusions This study showed that this novel one-step rRT-PCR assay is a rapid, reliable, repeatable, specific, sensitive, and simple tool for the detection of the CCHF virus. PMID:27099688

  5. Polymerase Chain Reaction: An Important Tool for Early Diagnosis of Leptospirosis Cases

    PubMed Central

    Mullan, Summaiya

    2016-01-01

    Introduction Various diagnostic methods like Microscopic Agglutination Test (MAT), IgM ELISA, Isolation of Leptospira from the clinical specimen, Rapid leptocheck tests etc., are available for diagnosis of leptospirosis. Polymerase Chain Reaction (PCR) is used for diagnosis of various diseases of infectious origin including leptospirosis but there is paucity of data about comparison of PCR with other available method of diagnosis of leptospirosis. Aim The aim of the study was to detect the leptospiral DNA by PCR method and to compare the results of PCR with other available diagnostic methods used for diagnosis of suspected leptospirosis cases in acute phase of illness. Materials and Methods A total of 207 blood samples were obtained from suspected patients of leptospirosis admitted in New Civil Hospital, a tertiary care hospital in South Gujarat, during the period of July 2008 to November 2008. These blood samples were subjected to Rapid leptocheck, IgM ELISA, MAT test to detect (IgG or IgM) antibody level, Leptospira culture and PCR. Results In early phase of the disease, Rapid leptocheck test gave 44% detection, but along with PCR seropositivity reached upto 71%. Detection rate by IgM ELISA was 59% which increased to 80% with PCR. By MAT seropositivity was 57% but combined seropositivity of MAT with PCR was 78%. Sensitivity and specificity of PCR as compared to MAT (Gold standard) was 52% and 79% respectively. Leptospira was not growing in culture. Conclusion In present study, PCR picked up to 50% of cases which were negative by other serological tests so these finding suggest that PCR should be used routinely in acute phase of disease. PMID:28208854

  6. ACCURATE TIME-DEPENDENT WAVE PACKET STUDY OF THE H{sup +}+LiH REACTION AT EARLY UNIVERSE CONDITIONS

    SciTech Connect

    Aslan, E.; Bulut, N.; Castillo, J. F.; Banares, L.; Aoiz, F. J.; Roncero, O.

    2012-11-01

    The dynamics and kinetics of the H{sup +} + LiH reaction have been studied using a quantum reactive time-dependent wave packet (TDWP) coupled-channel quantum mechanical method on an ab initio potential energy surface at conditions of the early universe. The total reaction probabilities for the H{sup +} + LiH(v = 0, j = 0) {yields} H{sup +} {sub 2} + Li process have been calculated from 5 Multiplication-Sign 10{sup -3} eV up to 1 eV for total angular momenta J from 0 to 110. Using a Langevin model, integral cross sections have been calculated in that range of collision energies and extrapolated for energies below 5 Multiplication-Sign 10{sup -3} eV. The calculated rate constants are found to be nearly independent of temperature in the 10-1000 K interval with a value of Almost-Equal-To 10{sup -9} cm{sup 3} s{sup -1}, which is in good agreement with estimates used in evolutionary models of the early universe lithium chemistry.

  7. A Novel Electrochemical Microfluidic Chip Combined with Multiple Biomarkers for Early Diagnosis of Gastric Cancer

    NASA Astrophysics Data System (ADS)

    Xie, Yao; Zhi, Xiao; Su, Haichuan; Wang, Kan; Yan, Zhen; He, Nongyue; Zhang, Jingpu; Chen, Di; Cui, Daxiang

    2015-12-01

    Early diagnosis is very important to improve the survival rate of patients with gastric cancer and to understand the biology of cancer. In order to meet the clinical demands for early diagnosis of gastric cancer, we developed a disposable easy-to-use electrochemical microfluidic chip combined with multiple antibodies against six kinds of biomarkers (carcinoembryonic antigen (CEA), carbohydrate antigen 19-9 (CA19-9), Helicobacter pylori CagA protein (H.P.), P53oncoprotein (P53), pepsinogen I (PG I), and PG-II). The six kinds of biomarkers related to gastric cancer can be detected sensitively and synchronously in a short time. The specially designed three electrodes system enables cross-contamination to be avoided effectively. The linear ranges of detection of the electrochemical microfluidic chip were as follows: 0.37-90 ng mL-1 for CEA, 10.75-172 U mL-1 for CA19-9, 10-160 U L-1 for H.P., 35-560 ng mL-1 for P53, 37.5-600 ng mL-1 for PG I, and 2.5-80 ng mL-1for PG II. This method owns better sensitivity compared with enzyme-linked immunosorbent assay (ELISA) results of 394 specimens of gastric cancer sera. Furthermore, we established a multi-index prediction model based on the six kinds of biomarkers for predicting risk of gastric cancer. In conclusion, the electrochemical microfluidic chip for detecting multiple biomarkers has great potential in applications such as early screening of gastric cancer patients, and therapeutic evaluation, and real-time dynamic monitoring the progress of gastric cancer in near future.

  8. Project for the National Program of Early Diagnosis of Endometrial Cancer Part II

    PubMed Central

    Bohîlțea, RE; Ancăr, V; Rădoi, V; Furtunescu, F; Bohîlțea, LC

    2015-01-01

    Rationale: Endometrial cancer recorded a peak incidence in ages 60-64 years in Romania. Since 2013, an increased trend of endometrial cancer occurrence has been registered in urban areas as compared with rural ones. Unfortunately, most of the cancer cases are diagnosed too late, in an advanced stage of the disease, resulting into diminished lifetime expectancy. The first part of the article concentrated on issues such as: the description of the study, results, and discussions regarding the study, definitions and terms, risk factors specific for endometrial carcinomas, presentation of the activities of the Program, etc. Objective: Drafting a national program that will serve as an early diagnosis method of endometrial cancer. This second part of the study continues with the presentation of the activities of the Program, analyzes the human resources and materials needed to implement the Program, presents the strategies and the indicators specific for the implementation of the project. Methods and Results: A standardization of the diagnostic steps was proposed and the focus was on 4 key elements for the early diagnosis of endometrial cancer: The first steps were approached in the first part of the study and the second part of the study investigated the proper monitoring of precursor endometrial lesions or cancer associated endometrial lesions and screening high risk populations (Lynch syndrome, Cowden syndrome). Discussion: Improving medical practice based on diagnostic algorithms and programs improves and increases the lifetime expectancy, due to the fact that endometrial cancer is early diagnosed and treated before it causes serious health problems or even death. Abbreviations: ASCCP = American Society for Colposcopy and Cervical Pathology, CT = Computerized Tomography, HNPCC = Hereditary Nonpolyposis Colorectal Cancer (Lynch syndrome), IHC = Immunohistochemistry, MSI = Microsatellites instability, MSI-H/ MSI-L = high (positive test)/ low (negative test

  9. A Novel Electrochemical Microfluidic Chip Combined with Multiple Biomarkers for Early Diagnosis of Gastric Cancer.

    PubMed

    Xie, Yao; Zhi, Xiao; Su, Haichuan; Wang, Kan; Yan, Zhen; He, Nongyue; Zhang, Jingpu; Chen, Di; Cui, Daxiang

    2015-12-01

    Early diagnosis is very important to improve the survival rate of patients with gastric cancer and to understand the biology of cancer. In order to meet the clinical demands for early diagnosis of gastric cancer, we developed a disposable easy-to-use electrochemical microfluidic chip combined with multiple antibodies against six kinds of biomarkers (carcinoembryonic antigen (CEA), carbohydrate antigen 19-9 (CA19-9), Helicobacter pylori CagA protein (H.P.), P53oncoprotein (P53), pepsinogen I (PG I), and PG-II). The six kinds of biomarkers related to gastric cancer can be detected sensitively and synchronously in a short time. The specially designed three electrodes system enables cross-contamination to be avoided effectively. The linear ranges of detection of the electrochemical microfluidic chip were as follows: 0.37-90 ng mL(-1) for CEA, 10.75-172 U mL(-1) for CA19-9, 10-160 U L(-1) for H.P., 35-560 ng mL(-1) for P53, 37.5-600 ng mL(-1) for PG I, and 2.5-80 ng mL(-1)for PG II. This method owns better sensitivity compared with enzyme-linked immunosorbent assay (ELISA) results of 394 specimens of gastric cancer sera. Furthermore, we established a multi-index prediction model based on the six kinds of biomarkers for predicting risk of gastric cancer. In conclusion, the electrochemical microfluidic chip for detecting multiple biomarkers has great potential in applications such as early screening of gastric cancer patients, and therapeutic evaluation, and real-time dynamic monitoring the progress of gastric cancer in near future.

  10. Serum microRNA panel for early diagnosis of the onset of hepatocellular carcinoma

    PubMed Central

    Zhang, Ying; Li, Tao; Qiu, Yumin; Zhang, Tao; Guo, Pengbo; Ma, Xiaomin; Wei, Qing; Han, Lihui

    2017-01-01

    Abstract Unique change of circulating microRNAs (miRNAs) was recognized to occur in early oncogenesis, which conferred it the potential as biomarkers for early detection of cancer. However, its diagnostic capability for hepatocellular carcinoma (HCC) has not been fully understood. In this study, microarray analysis was applied to screen the initial candidate miRNA from both the supernatants of anoikis-resistant cellular models and the sera samples of HCC patients. The selected differentially expressed miRNAs were further verified in 115 HCC patients and 40 health controls by qRT-PCR. Among these, 4 miRNAs (miR-16-2-3p, 92a-3p, 107, and 3126-5p) were significantly changed in HCC patients compared with controls. Logistic regression analysis identified a 3-miRNA panel (miR-92-3p, miR-107, and miR-3126-5p) as valuable diagnostic marker for HCC, especially for early stage patients (AUC = 0.975) and for low-level AFP HCC patients (AUC = 0.971). In addition, the combination of 3-miRNA panel and AFP was even more effective for discriminating the early stage HCC patients (AUC = 0.988) and low-level AFP HCC patients (AUC = 0.989) from control. In conclusion, diagnostic efficacy of the combination of 3-miRNA panel and AFP was powerful for HCC diagnosis, especially in early tumor screening and low-level AFP patients. PMID:28079796

  11. Shrinking the Psoriasis Assessment Gap: Early Gene-Expression Profiling Accurately Predicts Response to Long-Term Treatment.

    PubMed

    Correa da Rosa, Joel; Kim, Jaehwan; Tian, Suyan; Tomalin, Lewis E; Krueger, James G; Suárez-Fariñas, Mayte

    2017-02-01

    There is an "assessment gap" between the moment a patient's response to treatment is biologically determined and when a response can actually be determined clinically. Patients' biochemical profiles are a major determinant of clinical outcome for a given treatment. It is therefore feasible that molecular-level patient information could be used to decrease the assessment gap. Thanks to clinically accessible biopsy samples, high-quality molecular data for psoriasis patients are widely available. Psoriasis is therefore an excellent disease for testing the prospect of predicting treatment outcome from molecular data. Our study shows that gene-expression profiles of psoriasis skin lesions, taken in the first 4 weeks of treatment, can be used to accurately predict (>80% area under the receiver operating characteristic curve) the clinical endpoint at 12 weeks. This could decrease the psoriasis assessment gap by 2 months. We present two distinct prediction modes: a universal predictor, aimed at forecasting the efficacy of untested drugs, and specific predictors aimed at forecasting clinical response to treatment with four specific drugs: etanercept, ustekinumab, adalimumab, and methotrexate. We also develop two forms of prediction: one from detailed, platform-specific data and one from platform-independent, pathway-based data. We show that key biomarkers are associated with responses to drugs and doses and thus provide insight into the biology of pathogenesis reversion.

  12. Heat shock protein 70 acts as a potential biomarker for early diagnosis of heart failure.

    PubMed

    Li, Zongshi; Song, Yao; Xing, Rui; Yu, Haiyi; Zhang, Youyi; Li, Zijian; Gao, Wei

    2013-01-01

    Early identification for heart failure (HF) may be useful for disease modifying treatment in order to reduce heart disease progression or even to reverse it. In our previous studies, we have revealed a group of heat shock proteins (HSPs) which might be related to neonatal rat cardiomyocyte hypertrophy by proteomic approach. Here, we confirm that HSPs, including HSP27 and HSP70, altered in the early stage of cardiac remodeling in vivo animal model. Furthermore, plasma concentrations of those HSPs and their potential screening value were evaluated at different stages in 222 patient subjects. Plasma HSP27, HSP70 and HSP90 were measured using enzyme-linked immunosorbent assay. Results indicate that HSP70 was positively correlated to the severity (progression) of HF (r = 0.456, p<0.001). The area under the rate of change (ROC) curve was 0.601 (p = 0.017) in patients with stage B HF and 0.835 (p<0.001) in those with stage C HF. However, HSP27 and HSP90 did not display significant changes in any stage of HF in this study. Taken together, plasma concentrations of HSP70 elevated with the progression of HF and might act as a potential screening biomarker for early diagnosis of HF.

  13. Predictive score for early diagnosis of acute encephalopathy with biphasic seizures and late reduced diffusion (AESD).

    PubMed

    Tada, Hiroko; Takanashi, Jun-ichi; Okuno, Hideo; Kubota, Masaya; Yamagata, Takanori; Kawano, Gou; Shiihara, Takashi; Hamano, Shin-ichiro; Hirose, Shinichi; Hayashi, Takuya; Osaka, Hitoshi; Mizuguchi, Masashi

    2015-11-15

    Acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) at onset manifests an early seizure (ES) usually lasting more than 30 min. Following ES, some patients exhibit almost clear consciousness with no neurological symptoms, and no MRI abnormality for a few days, which may lead to an initial misdiagnosis of prolonged febrile seizures (PFS). To allow an early diagnosis of AESD, we retrospectively analyzed clinical manifestations, laboratory data, and radiologic and EEG findings in patients with AESD (n=62) having ES of over 30 min, and ones with PFS (n=54), using logistic regression analyses. Multivariate logistic regression analysis revealed that an age below 1.5 years and a Glasgow Coma Scale score of 14 or less than 14 (Japan Coma Scale score of 1 or higher) were high risk factors of developing AESD. We proposed an AESD prediction score system consisting of consciousness level, age, duration of convulsions, enforcement of mechanical intubation, and aspartate aminotransferase, blood glucose and creatinine levels (full score: 9), the mean scores in AESD and PFS being 5.9 and 1.8, which were significantly different (p<0.001). We herein propose a scoring system for differentiating patients with AESD and PFS around the time of ES (score of 4 or more than 4 suggesting AESD), which may contribute to early therapeutic intervention and an improved neurologic outcome.

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

    PubMed Central

    Twisk, Frank N. M.

    2014-01-01

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

  15. Cardiovascular oscillations at the bedside: early diagnosis of neonatal sepsis using heart rate characteristics monitoring

    PubMed Central

    Moorman, J. Randall; Delos, John B.; Flower, Abigail A.; Cao, Hanqing; Kovatchev, Boris P.; Richman, Joshua S.; Lake, Douglas E.

    2014-01-01

    We have applied principles of statistical signal processing and non-linear dynamics to analyze heart rate time series from premature newborn infants in order to assist in the early diagnosis of sepsis, a common and potentially deadly bacterial infection of the bloodstream. We began with the observation of reduced variability and transient decelerations in heart rate interval time series for hours up to days prior to clinical signs of illness. We find that measurements of standard deviation, sample asymmetry and sample entropy are highly related to imminent clinical illness. We developed multivariable statistical predictive models, and an interface to display the real-time results to clinicians. Using this approach, we have observed numerous cases in which incipient neonatal sepsis was diagnosed and treated without any clinical illness at all. This review focuses on the mathematical and statistical time series approaches used to detect these abnormal heart rate characteristics and present predictive monitoring information to the clinician. PMID:22026974

  16. A Review of Early Displaced Maxillary Canines: Etiology, Diagnosis and Interceptive Treatment

    PubMed Central

    Litsas, George; Acar, Ahu

    2011-01-01

    Impaction of maxillary canines is a frequently encountered clinical problem the treatment of which usually requires an interdisciplinary approach. Surgical exposure of the impacted tooth and the complex orthodontic mechanisms that are applied to align the tooth into the arch may lead to varying amounts of damage to the supporting structures of the tooth, not to mention the long treatment duration and the financial burden to the patient. Hence, it seems worthwhile to focus on the means of early diagnosis and interception of this clinical situation. In the present article, theories related with the etiology of impacted canines and predictive variables of canine impaction in the mixed dentition are reviewed with an insight into current interceptive treatment modalities. PMID:21566691

  17. [Parameters of PSA fractions in early diagnosis of prostatic cancer in healthy males over 50].

    PubMed

    Loran, O B; Krokhotina, L V; Pushkar', D Iu; Valiev, A Z; Rasner, P I

    1999-01-01

    292 symptomless males aged 50-85 years were examined for blood prostate-specific antigen (PSA) for early diagnosis of prostatic cancer. Males with total PSA (TPSA) higher than age-specific standard underwent free PSA (FPSA) assay to estimate FPSA/TPSA and transperineal biopsy of the prostate. TPSA ranged from 0.3 to 112.0 ng/ml and exceeded the age standard in 102 examinees (35%). Prognostically unfavorable FPSA/TPSA (under 15%) was registered in 17(5.8%) examinees. Biopsy of the prostate has revealed cancer in 7 of them. Among those whose TPSA was above the standard, but FPSA/TPSA > 15%, morphologically verified prostatic cancer was detected in 5 males. It is thought valid to include the method of PSA fractions estimation in the program of screening for males at risk to develop prostatic cancer as it is simple, cost effective and highly informative.

  18. Combining multifractal analyses of digital mammograms and infrared thermograms to assist in early breast cancer diagnosis

    NASA Astrophysics Data System (ADS)

    Gerasimova-Chechkina, E.; Toner, B.; Marin, Z.; Audit, B.; Roux, S. G.; Argoul, F.; Khalil, A.; Gileva, O.; Naimark, O.; Arneodo, A.

    2016-08-01

    We used a 1D wavelet transform modulus maxima (WTMM) method to analyze the temporal fluctuations of breast skin temperature recorded with an infrared (IR) camera from a panel of patients with breast cancer. This study shows that the multifractal complexity of temperature fluctuations observed in healthy breasts, is lost in the region of the malignant tumor in cancerous breasts. Then, we applied the 2D WTMM method to analyze the spatial fluctuations of breast density in the X-ray mammograms of the same patients. Compared to the correlated roughness fluctuations observed in the healthy areas, some clear loss of correlations is detected in malignant tumor foci. These physiological and architectural changes in the environment of malignant tumors detected in both thermograms and mammograms open new perspectives in computer-aided multifractal methods to assist in early breast cancer diagnosis.

  19. Quantitative ultrasound venous valve movement: early diagnosis of deep vein thrombosis

    NASA Astrophysics Data System (ADS)

    Muhd Suberi, Anis Azwani; Wan Zakaria, Wan Nurshazwani; Tomari, Razali; Ibrahim, Nabilah

    2016-07-01

    The purpose of this paper is to provide an in-depth analysis of computer aided system for the early diagnosis of Deep Vein Thrombosis (DVT). Normally, patients are diagnosed with DVT through ultrasound examination after they have a serious complication. Thus, this study proposes a new approach to reduce the risk of recurrent DVT by tracking the venous valve movement behaviour. Inspired by image processing technology, several image processing methods namely, image enhancement, segmentation and morphological have been implemented to improve the image quality for further tracking procedure. In segmentation, Otsu thresholding provides a significant result in segmenting valve structure. Subsequently, morphological dilation method is able to enhance the region shape of the valve distinctly and precisely. Lastly, image subtraction method is presented and evaluated to track the valve movement. Based on the experimental results the normal range of valve velocity lies within the range of blood flow velocity (Vb) and occasionally may result in higher values.

  20. Clinical, genetic, and neuroimaging features of Early Onset Alzheimer Disease: the challenges of diagnosis and treatment.

    PubMed

    Alberici, Antonella; Benussi, Alberto; Premi, Enrico; Borroni, Barbara; Padovani, Alessandro

    2014-01-01

    Early Onset Alzheimer Disease (EOAD) is a rare condition, frequently associated with genetic causes. The dissemination of genetic testing along with biomarker determinations have prompted a wider recognition of EOAD in experienced clinical settings. However, despite the great efforts in establishing the contribution of causative genes to EOAD, atypical disease presentation and clinical features still makes its diagnosis and treatment a challenge for the clinicians. This review aims to provide an extensive evaluation of literature data on EOAD, in order to improve understanding and knowledge of EOAD, underscore its significant impact on patients and their caregivers and influence public policies. This would be crucial to define the urgency of evidence-based treatment approaches.

  1. Eye examination for early diagnosis of disseminated tuberculosis in patients with AIDS.

    PubMed

    Heiden, David; Saranchuk, Peter; Keenan, Jeremy D; Ford, Nathan; Lowinger, Alan; Yen, Michael; McCune, Joseph; Rao, Narsing A

    2016-04-01

    Choroidal tuberculosis is present in 5-20% of patients with disseminated tuberculosis, and point-of-care dilated binocular indirect ophthalmoscopy eye examination can provide immediate diagnosis. In geographical areas of high tuberculosis prevalence and in susceptible patients (CD4 counts less than 200 cells per μL) detection of choroidal granulomas should be accepted as evidence of disseminated tuberculosis. With training and proper support, eye screening can be done by HIV/AIDS clinicians, allowing early tuberculosis treatment. In regions with a high burden of tuberculosis, we recommend that eye screening be a standard part of the initial assessment of susceptible patients, including at a minimum all patients with HIV/AIDS with CD4 less than 100 cells per μL with or without eye symptoms, and with or without suspicion of disseminated tuberculosis.

  2. Genetic analysis of Tunisian families with Usher syndrome type 1: toward improving early molecular diagnosis

    PubMed Central

    Ben-Rebeh, Imen; Bonnet, Crystel; Bouassida, Walid; Hadjamor, Imen; Ayadi, Hammadi; Ghorbel, Abdelmonem; Petit, Christine; Masmoudi, Saber

    2016-01-01

    Purpose Usher syndrome accounts for about 50% of all hereditary deaf-blindness cases. The most severe form of this syndrome, Usher syndrome type I (USH1), is characterized by profound congenital sensorineural deafness, vestibular dysfunction, and retinitis pigmentosa. Six USH1 genes have been identified, MYO7A, CDH23, PCDH15, USH1C, SANS, and CIB2, encoding myosin VIIA, cadherin-23, protocadherin-15, harmonin, scaffold protein containing ankyrin repeats and a sterile alpha motif (SAM) domain, and calcium- and integrin-binding member 2, respectively. Methods In the present study, we recruited four Tunisian families with a diagnosis of USH1, together with healthy unrelated controls. Affected members underwent detailed audiologic and ocular examinations. We used the North African Deafness (NADf) chip to search for known North African mutations associated with USH. Then, we selected microsatellite markers covering USH1 known loci to genotype the DNA samples. Finally, we performed DNA sequencing of three known USH1 genes: MYO7A, PCDH15, and USH1C. Results Four biallelic mutations, all single base changes, were found in the MYO7A, USH1C, and PCDH15 genes. These mutations consist of a previously reported splicing defect c.470+1G>A in MYO7A, three novel variants, including two nonsense (p.Arg3X and p.Arg134X) in USH1C and PCDH15, respectively, and one frameshift (p.Lys615Asnfs*6) in MYO7A. Conclusions We found a remarkable genetic heterogeneity in the studied families with USH1 with a variety of mutations, among which three were novel. These novel mutations will be included in the NADf mutation screening chip that will allow a higher diagnosis efficiency of this extremely genetically heterogeneous disease. Ultimately, efficient molecular diagnosis of USH in a patient’s early childhood is of utmost importance, allowing better educational and therapeutic management. PMID:27440999

  3. A novel intravital multi-harmonic generation microscope for early diagnosis of oral cancer

    NASA Astrophysics Data System (ADS)

    Cheng, Yu-Hsiang; Lin, Chih-Feng; Shih, Ting-Fang; Sun, Chi-Kuang

    2013-03-01

    Oral cancer is one of the most frequently diagnosed human cancers and leading causes of cancer death all over the world, but the prognosis and overall survival rate are still poor because of delay in diagnosis and lack of early intervention. The failure of early diagnosis is due to insufficiency of proper diagnostic and screening tools and most patients are reluctant to undergo biopsy. Optical virtual biopsy techniques, for imaging cells and tissues at microscopic details capable of differentiating benign from malignant lesions non-invasively, are thus highly desirable. A novel multi-harmonic generation microscope, excited by a 1260 nm Cr:forsterite laser, with second and third harmonic signals demonstrating collagen fiber distribution and cell morphology in a sub-micron resolution, was developed for clinical use. To achieve invivo observation inside the human oral cavity, a small objective probe with a suction capability was carefully designed for patients' comfort and stability. By remotely changing its focus point, the same objective can image the mucosa surface with a low magnification, illuminated by side light-emitting diodes, with a charge-coupled device (CCD) for site location selection before the harmonic generation biopsy was applied. Furthermore, the slow galvanometer mirror and the fast resonant mirror provide a 30 fps frame rate for high-speed real-time observation and the z-motor of this system is triggered at the same rate to provide fast 3D scanning, again ensuring patients' comfort. Focusing on the special cytological and morphological changes of the oral epithelial cells, our preliminary result disclosed excellent consistency with traditional histopathology studies.

  4. Molecular genetic study of novel biomarkers for early diagnosis of oral squamous cell carcinoma

    PubMed Central

    Yong-Deok, Kim; Eun-Hyoung, Jeon; Yeon-Sun, Kim; Kang-Mi, Pang; Jin-Yong, Lee; Sung-Hwan, Cho; Tae-Yun, Kim; Tae-Sung, Park; Soung-Min, Kim; Myung-Jin, Kim

    2015-01-01

    Objectives: Early detection and treatment of an oral squamous cell carcinoma (OSCC) is critical because of its rapid growth, frequent lymph-node metastasis, and poor prognosis. However, no clinically-valuable methods of early diagnosis exist, and genetic analysis of OSCCs has yielded no biomarkers. Study Design: We investigated the expression of genes associated with inflammation in OSCCs via a quantitative reverse transcriptase polymerase chain reaction (qRT-PCR) analysis of microarray data. Tumor and normal tissues from five patients with an OSCC were used for microarray analysis. Differentially-expressed genes, identified using permutation, local pooled error (LPE), t-tests, and significance analysis of microarrays (SAM), were selected as candidate genetic markers. Results: Two groups corresponding to tissue identity were evident, implying that their differentially-expressed genes represented biological differences between tissues. Fifteen genes were identified using the Student’s paired t-test (p<0.05) and the SAM, with a false discovery rate of less than 0.02. Based on gene expression, these 15 genes can be used to classify an OSCC. A genetic analysis of functional networks and ontologies, validated by using a qRT-PCR analysis of the tissue samples, identified four genes, ADAM15, CDC7, IL12RB2 and TNFRSF8, that demonstrated excellent concordance with the microarray data. Conclusions: Our study demonstrated that four genes (ADAM15, CDC7, IL12RB2 and TNFRSF8) had potential as novel biomarkers for the diagnosis and the treatment of an OSCC. Key words:Biomarker, microarray, quantitative reverse transcription polymerase chain reaction, oral squamous cell carcinoma, gene expression profiling. PMID:25475780

  5. A hybrid feature selection approach for the early diagnosis of Alzheimer’s disease

    NASA Astrophysics Data System (ADS)

    Gallego-Jutglà, Esteve; Solé-Casals, Jordi; Vialatte, François-Benoît; Elgendi, Mohamed; Cichocki, Andrzej; Dauwels, Justin

    2015-02-01

    Objective. Recently, significant advances have been made in the early diagnosis of Alzheimer’s disease (AD) from electroencephalography (EEG). However, choosing suitable measures is a challenging task. Among other measures, frequency relative power (RP) and loss of complexity have been used with promising results. In the present study we investigate the early diagnosis of AD using synchrony measures and frequency RP on EEG signals, examining the changes found in different frequency ranges. Approach. We first explore the use of a single feature for computing the classification rate (CR), looking for the best frequency range. Then, we present a multiple feature classification system that outperforms all previous results using a feature selection strategy. These two approaches are tested in two different databases, one containing mild cognitive impairment (MCI) and healthy subjects (patients age: 71.9 ± 10.2, healthy subjects age: 71.7 ± 8.3), and the other containing Mild AD and healthy subjects (patients age: 77.6 ± 10.0 healthy subjects age: 69.4 ± 11.5). Main results. Using a single feature to compute CRs we achieve a performance of 78.33% for the MCI data set and of 97.56% for Mild AD. Results are clearly improved using the multiple feature classification, where a CR of 95% is found for the MCI data set using 11 features, and 100% for the Mild AD data set using four features. Significance. The new features selection method described in this work may be a reliable tool that could help to design a realistic system that does not require prior knowledge of a patient's status. With that aim, we explore the standardization of features for MCI and Mild AD data sets with promising results.

  6. Conceptualization of Autism in the Latino Community and its Relationship with Early Diagnosis

    PubMed Central

    Zuckerman, Katharine E.; Sinche, Brianna; Cobian, Martiza; Cervantes, Marlene; Mejia, Angie; Becker, Thomas; Nicolaidis, Christina

    2014-01-01

    Objective Early identification of autism spectrum disorders (ASD) has been linked to improved long-term developmental outcomes. However, Latino children are diagnosed later than white non-Latino children. We aimed to qualitatively assess the understanding and conceptualization of ASD in the Latino community in order to understand potential community barriers to early diagnosis. Method We conducted 5 focus groups and 4 qualitative interviews with 30 parents of typically-developing Latino children in Oregon. Participants were asked structured questions concerning video vignettes that follow a Latina mother from the time she begins to worry about her 3-year-old son's behaviors to the time he receives an ASD diagnosis. Focus groups and interviews were audio-recorded, transcribed and independently coded. Coded data were analyzed using thematic analysis. Results Many Latino families in the study had not heard of ASD or had little information about it. Families sometimes assumed ASD red flags were normal or could be attributed to family dysfunction. Families also had concerns about provider communication and access to language services. Having a child with a developmental delay was associated with embarrassment, rejection, and family burden, making it difficult for parents to raise developmental concerns with providers. Conclusion Pediatric providers should not assume that Latino parents have heard of ASD or know its symptoms. Providers should be aware that parents may be reluctant to mention concerns due to cultural factors. The health care system needs to improve resources for Latino parents with limited English proficiency. Policies should encourage the use of developmental screening in primary care. PMID:25186120

  7. Progress in the development of early diagnosis and a drug with unique pharmacology to improve cancer therapy

    PubMed Central

    Lehotzky, A.; Tőkési, N.; Gonzalez-Alvarez, I.; Merino, V.; Bermejo, M.; Orosz, F.; Lau, P.; Kovacs, G.G.; Ovádi, J.

    2008-01-01

    Cancer continues to be one of the major health and socio-economic problems worldwide, despite considerable efforts to improve its early diagnosis and treatment. The identification of new constituents as biomarkers for early diagnosis of neoplastic cells and the discovery of new type of drugs with their mechanistic actions are crucial to improve cancer therapy. New drugs have entered the market, thanks to industrial and legislative efforts ensuring continuity of pharmaceutical development. New targets have been identified, but cancer therapy and the anti-cancer drug market still partly depend on anti-mitotic agents. The objective of this paper is to show the effects of KAR-2, a potent anti-mitotic compound, and TPPP/p25, a new unstructured protein, on the structural and functional characteristics of the microtubule system. Understanding the actions of these two potential effectors on the microtubule system could be the clue for early diagnosis and improvement of cancer therapy. PMID:18644768

  8. The Impact of Ventilation and Early Diagnosis on Tuberculosis Transmission in Brazilian Prisons.

    PubMed

    Urrego, Juliana; Ko, Albert I; da Silva Santos Carbone, Andrea; Paião, Dayse Sanchez Guimarães; Sgarbi, Renata Viebrantz Enne; Yeckel, Catherine W; Andrews, Jason R; Croda, Julio

    2015-10-01

    Prisoners have among the highest incidence of tuberculosis (TB) globally. However, the contribution of the prison environment on transmission is not well understood and structural characteristics have received little attention as effective epidemiological interventions in TB control. We evaluated architectural characteristics and estimated ventilation rates in 141 cells in three prisons in central west Brazil using steady-state exhaled carbon dioxide (CO2) levels. We used a modified Wells-Riley equation to estimate the probability of infection for inmates sharing a cell with an infectious case and projected the impact of interventions, including early diagnosis and improved ventilation. Overall, prison cells were densely populated (mean 2.1 m(2) per occupant) and poorly ventilated, with only three cells meeting World Health Organization (WHO) standards for per-person ventilation (60 L/s) applied in infection control settings. In the absence of interventions, projected mean risk of infection was 78.0% during a 6-month period. Decreasing time-to-diagnosis by 25% reduced transmission risk by 8.3%. Improving ventilation to WHO standards decreased transmission by 38.2%, whereas optimizing cross-ventilation reduced transmission by 64.4%. Prison environments promote high infection risk over short-time intervals. In this context, enhanced diagnostics have a limited impact on reducing transmission. Improving natural ventilation may be required to effectively control TB in prisons.

  9. EEG and MRI data fusion for early diagnosis of Alzheimer's disease.

    PubMed

    Patel, Tejash; Polikar, Robi; Davatzikos, Christos; Clark, Christopher M

    2008-01-01

    The prevalence of Alzheimer's disease (AD) is rising alarmingly as the average age of our population increases. There is no treatment to halt or slow the pathology responsible for AD, however, new drugs are promising to reduce the rate of progression. On the other hand, the efficacy of these new medications critically depends on our ability to diagnose AD at the earliest stage. Currently AD is diagnosed through longitudinal clinical evaluations, which are available only at specialized dementia clinics, hence beyond financial and geographic reach of most patients. Automated diagnosis tools that can be made available to community hospitals would therefore be very beneficial. To that end, we have previously shown that the event related potentials obtained from different scalp locations can be effectively used for early diagnosis of AD using an ensemble of classifiers based decision fusion approach. In this study, we expand our data fusion approach to include MRI based measures of regional brain atrophy. Our initial results indicate that ERPs and MRI carry complementary information, and the combination of these heterogeneous data sources using a decision fusion approach can significantly improve diagnostic accuracy.

  10. The Impact of Ventilation and Early Diagnosis on Tuberculosis Transmission in Brazilian Prisons

    PubMed Central

    Urrego, Juliana; Ko, Albert I.; da Silva Santos Carbone, Andrea; Paião, Dayse Sanchez Guimarães; Sgarbi, Renata Viebrantz Enne; Yeckel, Catherine W.; Andrews, Jason R.; Croda, Julio

    2015-01-01

    Prisoners have among the highest incidence of tuberculosis (TB) globally. However, the contribution of the prison environment on transmission is not well understood and structural characteristics have received little attention as effective epidemiological interventions in TB control. We evaluated architectural characteristics and estimated ventilation rates in 141 cells in three prisons in central west Brazil using steady-state exhaled carbon dioxide (CO2) levels. We used a modified Wells–Riley equation to estimate the probability of infection for inmates sharing a cell with an infectious case and projected the impact of interventions, including early diagnosis and improved ventilation. Overall, prison cells were densely populated (mean 2.1 m2 per occupant) and poorly ventilated, with only three cells meeting World Health Organization (WHO) standards for per-person ventilation (60 L/s) applied in infection control settings. In the absence of interventions, projected mean risk of infection was 78.0% during a 6-month period. Decreasing time-to-diagnosis by 25% reduced transmission risk by 8.3%. Improving ventilation to WHO standards decreased transmission by 38.2%, whereas optimizing cross-ventilation reduced transmission by 64.4%. Prison environments promote high infection risk over short-time intervals. In this context, enhanced diagnostics have a limited impact on reducing transmission. Improving natural ventilation may be required to effectively control TB in prisons. PMID:26195459

  11. Early diagnosis and successful treatment of disseminated toxoplasmosis after cord blood transplantation.

    PubMed

    Kurihara, Taro; Sumi, Masahiko; Kaiume, Hiroko; Takeda, Wataru; Kirihara, Takehiko; Sato, Keijiro; Ueki, Toshimitsu; Hiroshima, Yuki; Ueno, Mayumi; Ichikawa, Naoaki; Kaneko, Yumi; Hikosaka, Kenji; Norose, Kazumi; Kobayashi, Hikaru

    2016-06-01

    A 66-year-old woman with refractory angioimmunoblastic T-cell lymphoma underwent cord blood transplantation. Prior to transplantation, a serological test for Toxoplasma gondii-specific IgG antibodies was positive. On day 96, she exhibited fever and dry cough. Chest CT showed diffuse centrilobular ground glass opacities in both lungs. The reactivation of T. gondii was identified by the presence of parasite DNA in peripheral blood and bronchoalveolar lavage fluid. Moreover, brain MRI revealed a space occupying lesion in the right occipital lobe. Therefore, disseminated toxoplasmosis was diagnosed. She received pyrimethamine and sulfadiazine from day 99. The lung and brain lesions both showed improvement but the PCR assay for T. gondii DNA in peripheral blood was positive on day 133. On day 146, she developed blurred vision and reduced visual acuity, and a tentative diagnosis of toxoplasmic retinochoroiditis was made based on ophthalmic examination results. As agranulocytosis developed on day 158, we decided to discontinue pyrimethamine and sulfadiazine and the treatment was thus switched to atovaquone. Moreover, we added spiramycin to atovaquone therapy from day 174, and her ocular condition gradually improved. In general, the prognosis of disseminated toxoplasmosis after hematopoietic stem cell transplantation (HSCT) is extremely poor. However, early diagnosis and treatment may contribute to improvement of the fundamentally dismal prognosis of disseminated toxoplasmosis after HSCT.

  12. Quality Improvement Interventions for Early HIV Infant Diagnosis in Northeastern Uganda

    PubMed Central

    Akot, Agnes; Kisitu, Grace Paul; Amuge, Pauline; Kekitiinwa, Adeodata

    2016-01-01

    Introduction. Early infant diagnosis (EID) of human immunodeficiency virus (HIV) ensures prompt treatment and infant survival. In Kaabong Hospital, 20% of HIV exposed infants (HEIs) had access to HIV diagnosis by eight weeks. We aimed to improve EID of HIV by deoxyribonucleic acid-polymerase chain reaction (DNA-PCR) testing by eight weeks from 20 to 100% between June 2014 and November 2015. Method. In this quality improvement (QI) project, EID data was reviewed, gaps prioritized using theme matrix selection, root causes analyzed using fishbone tool, and improvement changes were selected using counter measures matrix but implemented using Plan-Do-Study-Act cycle. Root causes of low first DNA-PCR testing included maternal EID ignorance, absent lost mother-baby pairs (LMBP) tracking system, and no EID performance reviews. Health education, Continuous Medical Education (CMEs), and integration of laboratory and EID services were initial improvement changes used. Results. DNA-PCR testing increased from 20 to 100% between June 2014 and July 2015 and was sustained at 100% until February 2016. Two declines, 67% in September 2014 and 75% in June 2015, due to LMBP were addressed using expert clients and peer mothers, respectively. Conclusion. Formation of WIT, laboratory service integration at MBCP, and task shifting along EID cascade improved EID outcomes at 6 weeks. PMID:28105426

  13. Multiple sclerosis presented as clinically isolated syndrome: the need for early diagnosis and treatment

    PubMed Central

    Pelidou, Sigliti-Henrietta; Giannopoulos, Sotirios; Tzavidi, Sotiria; Lagos, Georgios; Kyritsis, Athanassios P

    2008-01-01

    Objective To aid in the timely diagnosis of patients who present with clinically isolated syndrome (CIS). Patients and methods We studied 25 patients (18 women, 7 men), originally presented in our clinic with a CIS suggestive of multiple sclerosis (MS). All patients underwent the full investigation procedure including routine tests, serology, cerebrospinal fluid (CSF) examinations, evoked potentials (EPs), and magnetic resonance imaging (MRI) of brain and cervical spinal cord. Patients were imaged at baseline, and every three months thereafter up to a year. Results The CIS was consisted of optic neuritis in 12 cases, incomplete transverse myelitis (ITM) in 7 cases, Lhermitte sign in 2 cases, internuclear ophthalmoplegia (INO) in 2 cases, mild brainstem syndrome in 1 case, and tonic-clonic seizures in 1 case. Using the baseline and three-month scans 18/25 (72%) patients developed definite MS in one year of follow up while 7 (28%) had no further findings during this observation period. Immunomodulatory treatments were applied to all definite MS patients. Conclusion In light of new treatments available, MRIs at 3 month intervals are helpful to obtain the definite diagnosis of MS as early as possible. PMID:18827858

  14. Efficient mining of association rules for the early diagnosis of Alzheimer's disease.

    PubMed

    Chaves, R; Górriz, J M; Ramírez, J; Illán, I A; Salas-Gonzalez, D; Gómez-Río, M

    2011-09-21

    In this paper, a novel technique based on association rules (ARs) is presented in order to find relations among activated brain areas in single photon emission computed tomography (SPECT) imaging. In this sense, the aim of this work is to discover associations among attributes which characterize the perfusion patterns of normal subjects and to make use of them for the early diagnosis of Alzheimer's disease (AD). Firstly, voxel-as-feature-based activation estimation methods are used to find the tridimensional activated brain regions of interest (ROIs) for each patient. These ROIs serve as input to secondly mine ARs with a minimum support and confidence among activation blocks by using a set of controls. In this context, support and confidence measures are related to the proportion of functional areas which are singularly and mutually activated across the brain. Finally, we perform image classification by comparing the number of ARs verified by each subject under test to a given threshold that depends on the number of previously mined rules. Several classification experiments were carried out in order to evaluate the proposed methods using a SPECT database that consists of 41 controls (NOR) and 56 AD patients labeled by trained physicians. The proposed methods were validated by means of the leave-one-out cross validation strategy, yielding up to 94.87% classification accuracy, thus outperforming recent developed methods for computer aided diagnosis of AD.

  15. Quality Improvement Interventions for Early HIV Infant Diagnosis in Northeastern Uganda.

    PubMed

    Izudi, Jonathan; Akot, Agnes; Kisitu, Grace Paul; Amuge, Pauline; Kekitiinwa, Adeodata

    2016-01-01

    Introduction. Early infant diagnosis (EID) of human immunodeficiency virus (HIV) ensures prompt treatment and infant survival. In Kaabong Hospital, 20% of HIV exposed infants (HEIs) had access to HIV diagnosis by eight weeks. We aimed to improve EID of HIV by deoxyribonucleic acid-polymerase chain reaction (DNA-PCR) testing by eight weeks from 20 to 100% between June 2014 and November 2015. Method. In this quality improvement (QI) project, EID data was reviewed, gaps prioritized using theme matrix selection, root causes analyzed using fishbone tool, and improvement changes were selected using counter measures matrix but implemented using Plan-Do-Study-Act cycle. Root causes of low first DNA-PCR testing included maternal EID ignorance, absent lost mother-baby pairs (LMBP) tracking system, and no EID performance reviews. Health education, Continuous Medical Education (CMEs), and integration of laboratory and EID services were initial improvement changes used. Results. DNA-PCR testing increased from 20 to 100% between June 2014 and July 2015 and was sustained at 100% until February 2016. Two declines, 67% in September 2014 and 75% in June 2015, due to LMBP were addressed using expert clients and peer mothers, respectively. Conclusion. Formation of WIT, laboratory service integration at MBCP, and task shifting along EID cascade improved EID outcomes at 6 weeks.

  16. Feasibility of CT-Guided Percutaneous Needle Biopsy in Early Diagnosis of BOOP

    SciTech Connect

    Poulou, Loukia S. Tsangaridou, Iris; Filippoussis, Petros; Sidiropoulou, Nektaria; Apostolopoulou, Sofia; Thanos, Loukas

    2008-09-15

    Bronchiolitis obliterans organizing pneumonia (BOOP) is a nonneoplastic, noninfectious lung disease with a diverse spectrum of imaging abnormalities and nonspecific symptoms diagnosed by open lung biopsy, transbroncial biopsy, and/or video-assisted thoracoscopy. The objective of this study was to retrospectively assess the role of percutaneous computed tomography (CT)-guided biopsy in early diagnosis of the disorder. Fourteen BOOP cases diagnosed by CT-guided biopsy were analyzed in terms of imaging abnormalities and complication rate. All had previously undergone a nondiagnostic procedure (bronchoscopy, transbronchial biopsy, bronchoalveolar lavage) to exclude infection or lung cancer. The most common imaging abnormalities in descending order were bilateral consolidations (5/14), unilateral tumor-like lesions (5/14), unilateral consolidations (3/14), and diffuse reticular pattern (1/14). Coexistent abnormalities (pleural effusions, nodules, ground-glass opacities) were observed in five patients. The complication rate was 4 of 14 (28.6%), including 2 cases of subclinical pneumothorax and 1 case of minor hemoptysis and local lung injury. None required intervention. We conclude that transthoracic CT-guided biopsy may be used in the diagnosis of BOOP in selected patients with mild complications. For the focal consolidation nodule/mass imaging pattern, CT-guided biopsy may prove to be a reasonable alternative to more invasive procedures.

  17. Early Diagnosis of HIV Infection in Infants - One Caribbean and Six Sub-Saharan African Countries, 2011-2015.

    PubMed

    Diallo, Karidia; Kim, Andrea A; Lecher, Shirley; Ellenberger, Dennis; Beard, R Suzanne; Dale, Helen; Hurlston, Mackenzie; Rivadeneira, Molly; Fonjungo, Peter N; Broyles, Laura N; Zhang, Guoqing; Sleeman, Katrina; Nguyen, Shon; Jadczak, Steve; Abiola, Nadine; Ewetola, Raimi; Muwonga, Jérémie; Fwamba, Franck; Mwangi, Christina; Naluguza, Mary; Kiyaga, Charles; Ssewanyana, Isaac; Varough, Deyde; Wysler, Domercant; Lowrance, David; Louis, Frantz Jean; Desinor, Olbeg; Buteau, Josiane; Kesner, Francois; Rouzier, Vanessa; Segaren, Nat; Lewis, Tessa; Sarr, Abdoulaye; Chipungu, Geoffrey; Gupta, Sundeep; Singer, Daniel; Mwenda, Reuben; Kapoteza, Hilary; Chipeta, Zawadi; Knight, Nancy; Carmona, Sergio; MacLeod, William; Sherman, Gayle; Pillay, Yogan; Ndongmo, Clement B; Mugisa, Bridget; Mwila, Annie; McAuley, James; Chipimo, Peter J; Kaonga, Wezi; Nsofwa, Dailess; Nsama, Davy; Mwamba, Fales Zulu; Moyo, Crispin; Phiri, Clement; Borget, Marie-Yolande; Ya-Kouadio, Leonard; Kouame, Abo; Adje-Toure, Christiane A; Nkengasong, John

    2016-11-25

    Pediatric human immunodeficiency virus (HIV) infection remains an important public health issue in resource-limited settings. In 2015, 1.4 million children aged <15 years were estimated to be living with HIV (including 170,000 infants born in 2015), with the vast majority living in sub-Saharan Africa (1). In 2014, 150,000 children died from HIV-related causes worldwide (2). Access to timely HIV diagnosis and treatment for HIV-infected infants reduces HIV-associated mortality, which is approximately 50% by age 2 years without treatment (3). Since 2011, the annual number of HIV-infected children has declined by 50%. Despite this gain, in 2014, only 42% of HIV-exposed infants received a diagnostic test for HIV (2), and in 2015, only 51% of children living with HIV received antiretroviral therapy (1). Access to services for early infant diagnosis of HIV (which includes access to testing for HIV-exposed infants and clinical diagnosis of HIV-infected infants) is critical for reducing HIV-associated mortality in children aged <15 years. Using data collected from seven countries supported by the U.S. President's Emergency Plan for AIDS Relief (PEPFAR), progress in the provision of HIV testing services for early infant diagnosis was assessed. During 2011-2015, the total number of HIV diagnostic tests performed among HIV-exposed infants within 6 weeks after birth (tests for early infant diagnosis of HIV), as recommended by the World Health Organization (WHO) increased in all seven countries (Cote d'Ivoire, the Democratic Republic of the Congo, Haiti, Malawi, South Africa, Uganda, and Zambia); however, in 2015, the rate of testing for early infant diagnosis among HIV-exposed infants was <50% in five countries. HIV positivity among those tested declined in all seven countries, with three countries (Cote d'Ivoire, the Democratic Republic of the Congo, and Uganda) reporting >50% decline. The most common challenges for access to testing for early infant diagnosis included

  18. Early Diagnosis of Clear Cell Kidney Cancer via VHL/HIF Pathway Regulated-Circulating microRNA

    DTIC Science & Technology

    2016-05-01

    Award Number: W81XWH-11-1-0715 TITLE: Early Diagnosis of Clear Cell Kidney Cancer via VHL/HIF Pathway-Regulated Circulating microRNA PRINCIPAL...TITLE AND SUBTITLE Sa. CONTRACT NUMBER Early Diagnosis of Clear Cell Kidney Cancer via VHL/HIF Pathway- Regulated Circulating microRNA Sb. GRANT NUMBER...panel of diagnostic miRNAs that are measurable in serum and will be able to identify kidney cancer in its earliest stages. We hypothesized that serum

  19. Early Diagnosis of Clear Cell Kidney Cancer via VHL/HIF Pathway-Regulated Circulating microRNA

    DTIC Science & Technology

    2014-09-01

    Award Number: W81XWH-11-1-0715 TITLE: Early Diagnosis of Clear Cell Kidney Cancer via VHL/HIF Pathway-Regulated Circulating microRNA PRINCIPAL...31Aug2014 4. TITLE AND SUBTITLE Sa. CONTRACT NUMBER Early Diagnosis of Clear Cell Kidney Cancer via VHL/HIF Pathway- Regulated Circulating microRNA Sb...identify a panel of diagnostic miRNAs that are measurable in serum and will be able to identify kidney cancer in its earliest stages. We hypothesized

  20. Current Challenges in Diabetic Nephropathy: Early Diagnosis and Ways to Improve Outcomes.

    PubMed

    Kim, Sang Soo; Kim, Jong Ho; Kim, In Joo

    2016-06-01

    Diabetes is often associated with chronic kidney disease (CKD) and is the primary cause of kidney failure in half of patients who receive dialysis therapy. Given the increasing prevalence of diabetes and its high morbidity and mortality, diabetic nephropathy is a serious drawback in individual patients and a tremendous socioeconomic burden on society. Despite growing concern for the management of diabetic nephropathy, the prevalence of CKD with diabetes is the same today as it was 20 years ago. The current strategy to manage diabetic nephropathy, including the control of hyperglycemia, dyslipidemia, and blood pressure and the wide-spread use of renin-angiotensin-aldosterone system inhibitors, is well established to be beneficial in the early stages of diabetic nephropathy. However, the effects are uncertain in patients with relatively progressed CKD. Therefore, early diagnosis or risk verification is extremely important in order to reduce the individual and socioeconomic burdens associated with diabetic nephropathy by providing appropriate management to prevent the development and progression of this condition. This review focuses on recent research and guidelines regarding risk assessment, advances in medical treatment, and challenges of and future treatments for diabetic nephropathy.

  1. Serum biomarker screening for the diagnosis of early gastric cancer using SELDI-TOF-MS.

    PubMed

    Li, Ping; Zhang, Dianliang; Guo, Chunbao

    2012-06-01

    In this study, we performed a proteomic analysis of sera from stage I gastric cancer patients using surface-enhanced laser desorption/ionization time-of-flight mass spectrometry (SELDI-TOF-MS) and established a diagnostic model for the early diagnosis of stage I gastric cancer. Serum samples from 169 gastric cancer patients and 83 age- and gender-matched healthy individuals were analyzed by SELDI-TOF-MS ProteinChip array technology. The SELDI-TOF-MS spectral data were analyzed using the Biomarker Wizard™ and Biomarker Patterns™ software to find differential proteins and develop a classification tree for gastric cancer. A total of 34 mass peaks were identified. Six peaks at a mass-to-charge ratio (m/z) of 2873, 3163, 4526, 5762, 6121 and 7778 were used to construct the diagnostic model. The model effectively distinguished gastric cancer samples from control samples, achieving a sensitivity and specificity of 93.49 and 91.57%, respectively. In addition, we identified 3 of the 6 protein peaks at 2873, 6121 and 7778 m/z, which distinguished between stage I and stage II/III/IV gastric cancer. The model had an accuracy of 88.89% for the identification of stage I gastric cancer. In conclusion, the diagnostic model for the detection of serum proteins by SELDI-TOF-MS ProteinChip array technology correctly distinguishes gastric cancer from healthy samples, and has the ability to screen and distinguish between early gastric cancer from advanced gastric cancer.

  2. Early diagnosis of tongue malignancy using laser induced fluorescence spectroscopy technique

    NASA Astrophysics Data System (ADS)

    Patil, Ajeetkumar; Unnikrishnan V., K.; Ongole, Ravikiran; Pai, Keerthilatha M.; Kartha, V. B.; Chidangil, Santhosh

    2015-07-01

    Oral cancer together with pharyngeal cancer is the sixth most common malignancy reported worldwide and one with high mortality ratio among all malignancies [1]. Worldwide 450,000 new cases are estimated in 2014[2]. About 90% are a type of cancer called squamous cell carcinoma (SCC). SCC of the tongue is the most common oral malignancy accounting for approximately 40% of all oral carcinomas. One of the important factors for successful therapy of any malignancy is early diagnosis. Although considerable progress has been made in understanding the cellular and molecular mechanisms of tumorigenesis, lack of reliable diagnostic methods for early detection leading to delay in therapy is an important factor responsible for the increase in the mortality rate in various types of cancers. Spectroscopy techniques are extremely sensitive for the analysis of biochemical changes in cellular systems. These techniques can provide a valuable information on alterations that occur during the development of cancer. This is especially important in oral cancer, where "tumor detection is complicated by a tendency towards field cancerization, leading to multi-centric lesions" and "current techniques detect malignant change too late" [3], and "biopsies are not representative of the whole premalignant lesion". [4

  3. A nanostructured genosensor for the early diagnosis of systemic arterial hypertension.

    PubMed

    Rolim, Thalita; Cancino, Juliana; Zucolotto, Valtencir

    2015-02-01

    The rapid progress of nanomedicine, especially in areas related to medical imaging and diagnostics, has motivated the development of new nanomaterials that can be combined with biological materials for specific medical applications. One such area of research involves the detection of specific DNA sequences for the early diagnosis of genetic diseases, using nanoparticles-containing genosensors. Typical genosensors devices are based on the use of sensing electrodes - biorecognition platforms - containing immobilized capture DNA probes capable of hybridizing with specific target DNA sequences. In this paper we show that upon an appropriate design of the biorecognition platform, efficient sandwich-type genosensors based upon DNA-AuNPs nanocomplexes can be efficiently applied to the detection of a Systemic Arterial Hypertension (SAH) polymorphism located in intron 16 of the Angiotensin-converter enzyme (ACE) gene. Since SAH is intimately related to heart diseases, especially blood hypertension, its early detection is of great biomedical interest. The biorecognition platforms were assembled using mixed self-assembled monolayers (SAMmix), which provided the immobilization of organized architectures with molecular control. Detection of the DNA target sequence at concentrations down to 1 nM was carried out using electrochemical impedance spectroscopy (EIS). We show that the use of EIS combined with specific nanobiocomplexes represents an efficient method for the unambiguous detection of complementary DNA hybridization for preventative nanomedicine applications.

  4. Clinical study of quantitative diagnosis of early cervical cancer based on the classification of acetowhitening kinetics

    NASA Astrophysics Data System (ADS)

    Wu, Tao; Cheung, Tak-Hong; Yim, So-Fan; Qu, Jianan Y.

    2010-03-01

    A quantitative colposcopic imaging system for the diagnosis of early cervical cancer is evaluated in a clinical study. This imaging technology based on 3-D active stereo vision and motion tracking extracts diagnostic information from the kinetics of acetowhitening process measured from the cervix of human subjects in vivo. Acetowhitening kinetics measured from 137 cervical sites of 57 subjects are analyzed and classified using multivariate statistical algorithms. Cross-validation methods are used to evaluate the performance of the diagnostic algorithms. The results show that an algorithm for screening precancer produced 95% sensitivity (SE) and 96% specificity (SP) for discriminating normal and human papillomavirus (HPV)-infected tissues from cervical intraepithelial neoplasia (CIN) lesions. For a diagnostic algorithm, 91% SE and 90% SP are achieved for discriminating normal tissue, HPV infected tissue, and low-grade CIN lesions from high-grade CIN lesions. The results demonstrate that the quantitative colposcopic imaging system could provide objective screening and diagnostic information for early detection of cervical cancer.

  5. Clinical Evaluation of Brain Perfusion SPECT with Brodmann Areas Mapping in Early Diagnosis of Alzheimer's Disease.

    PubMed

    Valotassiou, Varvara; Papatriantafyllou, John; Sifakis, Nikolaos; Tzavara, Chara; Tsougos, Ioannis; Psimadas, Dimitrios; Fezoulidis, Ioannis; Kapsalaki, Eftychia; Hadjigeorgiou, George; Georgoulias, Panagiotis

    2015-01-01

    Early diagnosis of Alzheimer's disease (AD) based on clinical criteria alone may be problematic, while current and future treatments should be administered earlier in order to be more effective. Thus, various disease biomarkers could be used for early detection of AD. We evaluated brain perfusion with 99mTc-HMPAO single photon emission computed tomography (SPECT) and Brodmann areas (BAs) mapping in mild AD using an automated software (NeuroGam) for the semi-quantitative evaluation of perfusion in BAs and the comparison with the software's normal database. We studied 34 consecutive patients with mild AD: 9 men, 25 women, mean age 70.9 ± 8.1 years, mean Mini-Mental State Examination 22.6 ± 2.5. BAs 25L, 25R, 38L, 38R, 28L, 28R, 36L, and 36R had the lower mean perfusion values, while BAs 31L, 31R, 19R, 18L, 18R, 17L, and 17R had the higher mean values. Compared with healthy subjects of the same age, perfusion values in BAs 25L, 25R, 28R, 28L, 36L, and 36R had the greatest deviations from the healthy sample, while the lowest deviations were found in BAs 32L, 32R, 19R, 24L, 17L, 17R, 18L, and 18R. A percentage of ≥94% of patients had perfusion values more than -2SDs below the mean of healthy subjects in BAs 38R, 38L, 36L, 36R, 23L, 23R, 22L, 44L, 28L, 28R, 25L, and 25R. The corresponding proportion was less than 38% for BAs 11L, 19R, 32L, 32R, 18L, 18R, 24L, and 17R. In conclusion, brain SPECT studies with automated perfusion mapping could be useful as an ancillary tool in daily practice, revealing perfusion impairments in early AD.

  6. A novel hysteroscopic approach for ovarian cancer screening/early diagnosis

    PubMed Central

    Gizzo, Salvatore; Noventa, Marco; Quaranta, Michela; Vitagliano, Amerigo; Saccardi, Carlo; Litta, Pietro; Antona, Donato

    2017-01-01

    The lethality of epithelial ovarian cancer (EOC) may be due to common misconceptions regarding etiology and the absence of effective screening and early diagnostic tools. Reviews of histopathological surveys performed on the resected fallopian tubes of breast cancer (BRCA) mutation carriers, who underwent risk-reducing salpingo-oophorectomy, unexpectedly revealed the presence of occult carcinomas of the fallopian tubes. This finding prompted studies that demonstrated the most accredited theory of type II EOC development, which suggests that a large proportion of these tumors are derived from the fallopian tube. At present, no diagnostic tools or screening programs have been demonstrated to be effective or cost-effective in improving the outcome of EOC; it is therefore imperative that the scientific community unite its efforts in the identification of a valid screening and/or early diagnostic method for the treatment of this lethal gynecological malignancy. To this end, the present paper proposes a novel tool for the screening/early diagnosis of EOC: The ‘Tuba-check’. This novel approach is based on the possibility of acquiring specimens for tubal lumen cytology via hysteroscopy in a minimally-invasive outpatient setting. The present study protocol aimed to validate the technical feasibility and oncological accuracy of the proposed approach, commencing with a cohort of patients with an expected increased oncological risk, including BRCA mutation carriers or those with a gene expression profile of ‘BRCA-ness’. If the data collected by the present study protocol validates this approach, the ‘Tuba-check’ may, in the near future, be extended for the treatment of all women, therefore reducing the number of victims of epithelial ovarian carcinoma. PMID:28356928

  7. The role of bronchoscopy in the diagnosis of early lung cancer: a review

    PubMed Central

    Potenza, Rossella; Capozzi, Rosanna; Liparulo, Valeria; Puma, Francesco; Yasufuku, Kazuhiro

    2016-01-01

    Lung cancer is the leading cause of cancer-related deaths worldwide with an overall 5-year survival rate of 17% after diagnoses. Indeed many patients tend to have a very poor prognosis, due to being diagnosed at an advanced stage. Conversely patients who are diagnosed at an early stage have a 5-year survival >70%, indicating that early detection of lung cancer is crucial to improve survival. Although flexible bronchoscopy is a relatively non-invasive procedure for patients suspected of having lung cancer, only 29% of carcinoma in situ (CIS) and 69% of microinvasive tumors were detectable using white light bronchoscopy (WLB) alone. As a result, in the past two decades, new bronchoscopic techniques have been developed to increase the yield and diagnostic accuracy, such as autofluorescence bronchoscopy (AFB), narrow band imaging (NBI) and high magnification bronchovideoscopy (HMB). However, due to the low specificity and the limitation to detect only proximal bronchial tree, new probe-based technologies have been introduced: radial endobronchial ultrasound (R-EBUS), optical coherence tomography (OCT), confocal laser endomicroscopy (CLE) and laser Raman spectroscopy (LRS). To date, although tissue biopsy remains the gold standard for diagnosing malignant/premalignant airway disease and some techniques are still investigational, bronchoscopic technologies can be considered the safest and most accurate tools to evaluate both central and distal airway mucosa. PMID:28066614

  8. The role of bronchoscopy in the diagnosis of early lung cancer: a review.

    PubMed

    Andolfi, Marco; Potenza, Rossella; Capozzi, Rosanna; Liparulo, Valeria; Puma, Francesco; Yasufuku, Kazuhiro

    2016-11-01

    Lung cancer is the leading cause of cancer-related deaths worldwide with an overall 5-year survival rate of 17% after diagnoses. Indeed many patients tend to have a very poor prognosis, due to being diagnosed at an advanced stage. Conversely patients who are diagnosed at an early stage have a 5-year survival >70%, indicating that early detection of lung cancer is crucial to improve survival. Although flexible bronchoscopy is a relatively non-invasive procedure for patients suspected of having lung cancer, only 29% of carcinoma in situ (CIS) and 69% of microinvasive tumors were detectable using white light bronchoscopy (WLB) alone. As a result, in the past two decades, new bronchoscopic techniques have been developed to increase the yield and diagnostic accuracy, such as autofluorescence bronchoscopy (AFB), narrow band imaging (NBI) and high magnification bronchovideoscopy (HMB). However, due to the low specificity and the limitation to detect only proximal bronchial tree, new probe-based technologies have been introduced: radial endobronchial ultrasound (R-EBUS), optical coherence tomography (OCT), confocal laser endomicroscopy (CLE) and laser Raman spectroscopy (LRS). To date, although tissue biopsy remains the gold standard for diagnosing malignant/premalignant airway disease and some techniques are still investigational, bronchoscopic technologies can be considered the safest and most accurate tools to evaluate both central and distal airway mucosa.

  9. [Real-time sonography of the infant hip joint in the early diagnosis of congenital hip dysplasia].

    PubMed

    Casser, H R; Forst, R

    1985-01-01

    The ultrasonic examination of infant hip joint means a great advantage in early diagnosis of congenital hip dysplasia. The sonographic type classification by Graf enables the experienced examiner to make up a differentiated diagnostic-therapeutic concept as early as possible. Therapeutic omissions just as well as exaggerated therapeutic measures can be avoided. Consequently the prognosis of hip joint dysplasia is considerably improved by ultrasonic examination of new-born hip joints.

  10. Assessment of a custom-built Raman spectroscopic probe for diagnosis of early oesophageal neoplasia

    NASA Astrophysics Data System (ADS)

    Almond, L. Max; Hutchings, Jo; Kendall, Catherine; Day, John C. C.; Stevens, Oliver A. C.; Lloyd, Gavin R.; Shepherd, Neil A.; Barr, Hugh; Stone, Nick

    2012-08-01

    We evaluate the potential of a custom-built fiber-optic Raman probe, suitable for in vivo use, to differentiate between benign, metaplastic (Barrett's oesophagus), and neoplastic (dysplastic and malignant) oesophageal tissue ex vivo on short timescales. We measured 337 Raman spectra (λex=830 nm Pex=60 mW t=1 s) using a confocal probe from fresh (298) and snap-frozen (39) oesophageal tissue collected during surgery or endoscopy from 28 patients. Spectra were correlated with histopathology and used to construct a multivariate classification model which was tested using leave one tissue site out cross-validation in order to evaluate the diagnostic accuracy of the probe system. The Raman probe system was able to differentiate, when tested with leave one site out cross-validation, between normal squamous oesophagus, Barrett's oesophagus and neoplasia with sensitivities of (838% to 6%) and specificities of (89% to 99%). Analysis of a two group model to differentiate Barrett's oesophagus and neoplasia demonstrated a sensitivity of 88% and a specificity of 87% for classification of neoplastic disease. This fiber-optic Raman system can provide rapid, objective, and accurate diagnosis of oesophageal pathology ex vivo. The confocal design of this probe enables superficial mucosal abnormalities (metaplasia and dysplasia) to be classified in clinically applicable timescales paving the way for an in vivo trial.

  11. [Retinoblastoma: inventory in Mali and program to develop early diagnosis, treatments and rehabilitation].

    PubMed

    Traore, Fousseyni; Togo, Boubacar; Sylla, Fatoumata; Cheick, Traoré B; Diakité, Abdoul-Aziz; Dicko-Traore, Fatoumata; Sylla, Mariam; Sidibé, Toumani; Doz, François; Harif, M'hamed; Bey, Pierre; Desjardins, Laurence

    2013-02-01

    Retinoblastoma (RB) is a rare embryonic tumour that represents 1/16,000 births in France. In Mali, a study showed the characteristics of a hospital series of cases seen in Bamako in the Pediatric Oncology Unit of Gabriel Touré Teaching Hospital and in the Tropical Ophthalmology Institute of Africa (IOTA) between January 2005 and June 2007. Median age was 4 years versus 2 years in France for unilateral disease. Near two third of children with RB had extra-ocular extension at diagnosis, which is now exceptional in France. Only 11% were bilateral versus 35% in France. Cure rate was around 50%, but it is estimated only on the cases arriving in Bamako and with at least 20% lost of follow-up. Cure rate is over 95% in France within an exhaustive register. RB appears as an exemplary tumor and rapid improvements could be obtained in low-income countries with relatively limited means. This is why, the Alliance mondiale contre le cancer (AMCC), the Institut Curie in Paris, which is the reference center in France for RB, and teams in Bamako were proposing a program to help the development of early diagnosis, treatments, including eye preservation, and rehabilitation of children with RB in sub-Saharan Africa in collaboration with the Groupe franco-africain d'oncologie pédiatrique (GFAOP). The official launching of this program was held in Bamako November 4, 2011 for Mali and the surrounding regions. After this first experience, this program is now implemented in other countries.

  12. Microscopic Observation Drug Susceptibility Assay (MODS) for Early Diagnosis of Tuberculosis in Children

    PubMed Central

    Ha, Dang Thi Minh; Lan, Nguyen Thi Ngoc; Wolbers, Marcel; Duong, Tran Ngoc; Quang, Nguyen Dang; Thi Van Thinh, Tran; Thi Hong Ngoc, Le; Thi Ngoc Anh, Nguyen; Van Quyet, Tran; Thi Bich Tuyen, Nguyen; Thi Ha, Vo; Day, Jeremy; Thi Thanh Hang, Hoang; Kiet, Vo Sy; Thi Nho, Nguyen; Hoa, Dai Viet; Dung, Nguyen Huy; Huu Lan, Nguyen; Farrar, Jeremy; Caws, Maxine

    2009-01-01

    MODS is a novel liquid culture based technique that has been shown to be effective and rapid for early diagnosis of tuberculosis (TB). We evaluated the MODS assay for diagnosis of TB in children in Viet Nam. 217 consecutive samples including sputum (n = 132), gastric fluid (n = 50), CSF (n = 32) and pleural fluid (n = 3) collected from 96 children with suspected TB, were tested by smear, MODS and MGIT. When test results were aggregated by patient, the sensitivity and specificity of smear, MGIT and MODS against “clinical diagnosis” (confirmed and probable groups) as the gold standard were 28.2% and 100%, 42.3% and 100%, 39.7% and 94.4%, respectively. The sensitivity of MGIT and MODS was not significantly different in this analysis (P = 0.5), but MGIT was more sensitive than MODS when analysed on the sample level using a marginal model (P = 0.03). The median time to detection of MODS and MGIT were 8 days and 13 days, respectively, and the time to detection was significantly shorter for MODS in samples where both tests were positive (P<0.001). An analysis of time-dependent sensitivity showed that the detection rates were significantly higher for MODS than for MGIT by day 7 or day 14 (P<0.001 and P = 0.04), respectively. MODS is a rapid and sensitive alternative method for the isolation of M.tuberculosis from children. PMID:20020056

  13. Assessment of Progressive Pathophysiology After Early Prenatal Diagnosis of the Ebstein Anomaly or Tricuspid Valve Dysplasia.

    PubMed

    Selamet Tierney, Elif Seda; McElhinney, Doff B; Freud, Lindsay R; Tworetzky, Wayne; Cuneo, Bettina F; Escobar-Diaz, Maria C; Ikemba, Catherine; Kalish, Brian T; Komarlu, Rukmini; Levasseur, Stéphanie M; Puchalski, Michael D; Satou, Gary M; Silverman, Norman H; Moon-Grady, Anita J

    2017-01-01

    In fetuses with Ebstein anomaly or tricuspid valve dysplasia (EA/TVD), poor hemodynamic status is associated with worse neonatal outcome. It is not known whether EA/TVD fetuses with more favorable physiology earlier in gestation progress to more severe disease in the third trimester. We evaluated if echocardiographic indexes in EA/TVD fetuses presenting <24 weeks of gestation are reliable indicators of physiologic status later in pregnancy. This multicenter, retrospective study included 51 fetuses presenting at <24 weeks of gestation with EA/TVD and serial fetal echocardiograms ≥4 weeks apart. We designated the following as markers of poor outcome: absence of anterograde flow across the pulmonary valve, pulmonary valve regurgitation, cardiothoracic area ratio >0.48, left ventricular (LV) dysfunction, or tricuspid valve (TV) annulus Z-score >5.6. Median gestational age at diagnosis was 21 weeks (range, 18 to 24). Eighteen fetuses (35%) had no markers for poor hemodynamic status initially, whereas only 7 of these continued to have no markers of poor outcome in the third trimester. Nine of 27 fetuses (33%) with anterograde pulmonary blood flow on the first echocardiogram developed pulmonary atresia; 7 of 39 (18%) developed new pulmonary valve regurgitation. LV dysfunction was present in 2 (4%) patients at <24 weeks but in 14 (37%) later (p <0.001). The TV annulus Z-score and cardiothoracic area both increased from diagnosis to follow-up. In conclusion, progressive hemodynamic compromise was common in this cohort. Our study highlights that care must be taken in counseling before 24 weeks, as the absence of factors associated with poor outcome early in pregnancy may be falsely reassuring.

  14. Ensembles of Deep Learning Architectures for the Early Diagnosis of the Alzheimer's Disease.

    PubMed

    Ortiz, Andrés; Munilla, Jorge; Górriz, Juan M; Ramírez, Javier

    2016-11-01

    Computer Aided Diagnosis (CAD) constitutes an important tool for the early diagnosis of Alzheimer's Disease (AD), which, in turn, allows the application of treatments that can be simpler and more likely to be effective. This paper explores the construction of classification methods based on deep learning architectures applied on brain regions defined by the Automated Anatomical Labeling (AAL). Gray Matter (GM) images from each brain area have been split into 3D patches according to the regions defined by the AAL atlas and these patches are used to train different deep belief networks. An ensemble of deep belief networks is then composed where the final prediction is determined by a voting scheme. Two deep learning based structures and four different voting schemes are implemented and compared, giving as a result a potent classification architecture where discriminative features are computed in an unsupervised fashion. The resulting method has been evaluated using a large dataset from the Alzheimer's disease Neuroimaging Initiative (ADNI). Classification results assessed by cross-validation prove that the proposed method is not only valid for differentiate between controls (NC) and AD images, but it also provides good performances when tested for the more challenging case of classifying Mild Cognitive Impairment (MCI) Subjects. In particular, the classification architecture provides accuracy values up to 0.90 and AUC of 0.95 for NC/AD classification, 0.84 and AUC of 0.91 for stable MCI/AD classification and 0.83 and AUC of 0.95 for NC/MCI converters classification.

  15. A new approach to early diagnosis of congestive heart failure disease by using Hilbert-Huang transform.

    PubMed

    Altan, Gokhan; Kutlu, Yakup; Allahverdi, Novruz

    2016-12-01

    Congestive heart failure (CHF) is a degree of cardiac disease occurring as a result of the heart's inability to pump enough blood for the human body. In recent studies, coronary artery disease (CAD) is accepted as the most important cause of CHF. This study focuses on the diagnosis of both the CHF and the CAD. The Hilbert-Huang transform (HHT), which is effective on non-linear and non-stationary signals, is used to extract the features from R-R intervals obtained from the raw electrocardiogram data. The statistical features are extracted from instinct mode functions that are obtained applying the HHT to R-R intervals. Classification performance is examined with extracted statistical features using a multilayer perceptron neural network. The designed model classified the CHF, the CAD patients and a normal control group with rates of 97.83%, 93.79% and 100%, accuracy, specificity and sensitivity, respectively. Also, early diagnosis of the CHF was performed by interpretation of the CAD with a classification accuracy rate of 97.53%, specificity of 98.18% and sensitivity of 97.13%. As a result, a single system having the ability of both diagnosis and early diagnosis of CHF is performed by integrating the CAD diagnosis method to the CHF diagnosis method.

  16. Improvements Needed to Speed Implementation of Medicaid's Early and Periodic Screening, Diagnosis, and Treatment Program...Report to the Congress.

    ERIC Educational Resources Information Center

    Comptroller General of the U.S., Washington, DC.

    Congressman Ralph H. Metcalfe asked the General Accounting Office (GAO) to review implementation of the Medicaid Early and Periodic Screening, Diagnosis, and Treatment (EPSDT) program administered by the Department of Health, Education, and Welfare's (HEW's) Social and Rehabilitation Service (SRS). An estimated 10 million children under age 21 are…

  17. Early Diagnosis of Clear Cell Kidney Cancer via VHL/HIF Pathway-regulated Circulating microRNA

    DTIC Science & Technology

    2013-09-01

    Cancer via VHL /HIF Pathway-regulated Circulating microRNA PRINCIPAL INVESTIGATOR: Allan Pantuck, MD...SUBTITLE Early Diagnosis of Clear Cell Kidney Cancer via VHL /HIF Pathway-regulated Circulating microRNA 5a. CONTRACT NUMBER 5b. GRANT NUMBER

  18. [EPSDT: Information Booklets and Training Materials for Use in the Medicaid Early and Periodic Screening, Diagnosis and Treatment Program].

    ERIC Educational Resources Information Center

    Manela, Roger; And Others

    These three booklets present information about selected aspects of the Medicaid Early and Periodic Screening Diagnosis and Treatment (EPSDT) program. A brief history of the development of the EPSDT program, a description of administrative structure at the national, state and local levels, and a description of the lifestyle typical of many EPSDT…

  19. EPSDT: Child Health. Child Health Information for Workers in the Medicaid Early and Periodic Screening Diagnosis and Treatment Program.

    ERIC Educational Resources Information Center

    Manela, Roger; And Others

    One of six information booklets with accompanying training materials for the Medicaid Early and Periodic Screening Diagnosis and Treatment (EPSDT) program, this booklet describes the stages of child growth and development and some of the health problems which EPSDT clients might have. Section I describes tests commonly included in an EPSDT…

  20. Research progress in applying proteomics technology to explore early diagnosis biomarkers of breast cancer, lung cancer and ovarian cancer.

    PubMed

    Luo, Lu; Dong, Li-You; Yan, Qi-Gui; Cao, San-Jie; Wen, Xin-Tian; Huang, Yong; Huang, Xiao-Bo; Wu, Rui; Ma, Xiao-Ping

    2014-01-01

    According to the China tumor registry 2013 annual report , breast cancer, lung cancer, and ovarian cancer are three common cancers in China nowadays, with high mortality due to the absence of early diagnosis technology. However, proteomics has been widespreadly implanted into every field of life science and medicine as an important part of post-genomics era research. The development of theory and technology in proteomics has provided new ideas and research fields for cancer research. Proteomics can be used not only for elucidating the mechanisms of carcinogenesis focussing on whole proteins of the tissue or cell, but also seeking the biomarkers for diagnosis and therapy of cancer. In this review, we introduce proteomics principles, covering current technology used in exploring early diagnosis biomarkers of breast cancer, lung cancer and ovarian cancer.

  1. Essentiality of early diagnosis of molar incisor hypomineralization in children and review of its clinical presentation, etiology and management.

    PubMed

    Garg, Nishita; Jain, Abhay Kumar; Saha, Sonali; Singh, Jaspal

    2012-09-01

    Molar incisor hypomineralization (MIH) is a common developmental condition resulting in enamel defects in first permanent molars and permanent incisors. It presents at eruption of these teeth. One to four molars, and often also the incisors, could be affected. Since first recognized, the condition has been puzzling and interpreted as a distinct phenomenon unlike other enamel disturbances. Early diagnosis is essential since, rapid breakdown of tooth structure may occur, giving rise to acute symptoms and complicated treatment. The purpose of this article is to review MIH and illustrate its diagnosis and clinical management in young children. How to cite this article: Garg N, Jain AK, Saha S, Singh J. Essentiality of Early Diagnosis of Molar Incisor Hypomineralization in Children and Review of its Clinical Presentation, Etiology and Management. Int J Clin Pediatr Dent 2012;5(3):190-196.

  2. Essentiality of Early Diagnosis of Molar Incisor Hypomineralization in Children and Review of its Clinical Presentation, Etiology and Management

    PubMed Central

    Jain, Abhay Kumar; Saha, Sonali; Singh, Jaspal

    2012-01-01

    Abstract Molar incisor hypomineralization (MIH) is a common developmental condition resulting in enamel defects in first permanent molars and permanent incisors. It presents at eruption of these teeth. One to four molars, and often also the incisors, could be affected. Since first recognized, the condition has been puzzling and interpreted as a distinct phenomenon unlike other enamel disturbances. Early diagnosis is essential since, rapid breakdown of tooth structure may occur, giving rise to acute symptoms and complicated treatment. The purpose of this article is to review MIH and illustrate its diagnosis and clinical management in young children. How to cite this article: Garg N, Jain AK, Saha S, Singh J. Essentiality of Early Diagnosis of Molar Incisor Hypomineralization in Children and Review of its Clinical Presentation, Etiology and Management. Int J Clin Pediatr Dent 2012;5(3):190-196. PMID:25206166

  3. Application of Mass Spectrometry Technology to Early Diagnosis of Invasive Fungal Infections

    PubMed Central

    Mery, Alexandre; Sendid, Boualem; François, Nadine; Cornu, Marjorie; Poissy, Julien; Guerardel, Yann

    2016-01-01

    We recently developed a mass spectrometry (MS) procedure based on the detection of a serum disaccharide (MS-DS) in patients with invasive candidiasis (IC). Here, we compare the performance of MS-DS for the diagnosis of IC, invasive aspergillosis (IA), and mucormycosis (MM) with those of commercially available antigen detection tests. This retrospective study included 48 patients (23 IC patients [74 serum samples], 15 IA patients [40 serum samples], and 10 MM patients [15 serum samples]) and 49 appropriate controls (102 serum samples). MS-DS, mannan (Mnn), galactomannan (GM), and (1,3)-β-d-glucan (BDG) were detected by matrix-assisted laser desorption ionization–time of flight (MALDI-TOF) MS, Platelia, and Fungitell assays, respectively. For IC, the sensitivity and specificity of the MS-DS index, BDG detection, and Mnn detection were 62% and 84%, 82% and 60%, and 33% and 94% per serum sample and 83% and 69%, 96% and 31%, and 39% and 86% per patient, respectively. For IA, the corresponding values in comparison to BDG and GM detection were 83% and 81%, 62% and 95%, and 62% and 100% per serum sample and 93% and 76%, 87% and 90%, and 93% and 100% per patient, respectively. Nine of the 10 MM patients had a positive MS-DS result. MS-DS gave an early diagnosis in IC (73% positivity before blood culture), IA (positive before GM detection in six patients), and MM (positivity mainly preceded the date of diagnosis) patients. For IC, persisting MS-DS was associated with a poor prognosis. The different biomarkers were rarely detected simultaneously, suggesting different kinetics of release and clearance. For IA, MS-DS provided better complementation to GM monitoring than BDG monitoring. MS-DS detects panfungal molecules circulating during invasive fungal infections. The performance of MS-DS compared favorably with those of biological tests currently recommended for monitoring at-risk patients. Further validation of this test in multicenter studies is required. PMID:27605710

  4. [Molecular diagnosis as a strategy for differential diagnosis and at early ages of neurofibromatosis type 1 (NF1)].

    PubMed

    Gómez, Martha; Batista, Oriana

    2015-10-01

    Neurofibromatosis type 1 (NF1), is a haploinsufficient and multisystemic disease, caused by inherited or sporadic mutations in the NF1 gene. Its incidence is one in 2,500 to 3,000 individuals, it has an autosomal dominant pattern of inheritance, high clinical variability, complete penetrance and age-dependent complications. Neurofibromin is the product of the NF1 gene and is believed to act as a tumor suppressor since the loss of its function has been associated with benign and malignant tumors in neural crest-derived tissues. Only two correlations between clinical phenotype and mutant alleles in the NF1 gene have been observed. The established criteria for disease diagnosis are very efficient in adults and children older than 3 years of age, but not for children under this age. Mutational analysis is therefore recommended to confirm the disease in young children with a negative family history. A pathogenic mutation in the NF1 should be added to the list of diagnostic criteria. Mutational analysis is also recommended for differential diagnosis and for prenatal or pre-implantation genetic diagnosis, taking into consideration the family history and the type of method to be applied. Molecular studies of this disease using different complimentary molecular techniques and bioinformatics tools have characterized NF1 gene mutations at both the DNA and mRNA levels, increasing the mutational spectrum. Consequently, about 1,289 defects have been reported to date, mainly nonsense/missense mutations, deletions and splice site defects.

  5. Salivary proteomics: A new adjuvant approach to the early diagnosis of familial juvenile systemic lupus erythematosus.

    PubMed

    Abrão, Aline Lauria P; Falcao, Denise Pinheiro; de Amorim, Rivadávio Fernandes Batista; Bezerra, Ana Cristina B; Pombeiro, Gilson Augusto N M; Guimarães, Luciano Junqueira; Fregni, Felipe; Silva, Luciano Paulino; da Mota, Licia Maria Henrique

    2016-04-01

    Systemic lupus erythematosus (SLE) is a chronic multisystemic disease characterized by autoimmune inflammatory disturbance. Pleomorphic manifestations are present and a potentially progressive and debilitating course can be detected. SLE rarely manifests before age 5, and its onset peaks is around puberty. Although clinical manifestations, immunological alterations and treatment do not differ between juvenile and adult SLE, children tend to present with a more aggressive disease course than adults. Hence, autoimmune rheumatic diseases are the most common cause of morbidity and mortality in pediatric populations. Blood serum analysis plays an especially important role in the detection and monitoring of autoantibodies in SLE. However, since blood sampling is an uncomfortable procedure, especially in children, novel less invasive techniques and approaches are of utmost importance to evaluate pediatric subjects. In this regard, saliva samples have several advantages, such as: easy access, fast collection, painless and riskless procedure. Saliva has antimicrobial, immunomodulatory and anti-inflammatory properties, as well as several other relevant features. The whole saliva is a complex mixture of major and minor salivary gland secretion, gingival crevicular fluid, transudates plasma protein, keratinocyte products and oral microbiota. This biological fluid reflects the physiological state of the body, including the emotional condition, and endocrine, nutritional and metabolic changes. Therefore, salivary proteomics is becoming increasingly used for the early diagnosis of several diseases such as breast cancer, oral cancer, Sjögren's syndrome, diffuse systemic sclerosis, rheumatoid arthritis, among others. Considering the detection of some potential markers related to SLE in serum and urine, this study aims to conduct an initial evaluation of the possible presence of such biomarkers in saliva. Furthermore, it is expected to track down new salivary proteins that could be

  6. CXCL13 may improve diagnosis in early neuroborreliosis with atypical laboratory findings

    PubMed Central

    2012-01-01

    Background Current guidelines regarding Lyme neuroborreliosis [LNB] require the presence of intrathecal Borrelia burgdorferi-specific antibody production for the definite diagnosis of LNB. However, about 20% of early stage infections present without an elevated antibody index. Moreover, intrathecal B. burgdorferi specific antibody synthesis may persist long after successful therapy of LNB. Recently published data indicate that CXCL13 seems to be a promising diagnostic tool for early stage LNB. In addition, CXCL13 might be suitable for treatment monitoring. Case presentation We report on a 39-year-old male patient from southern Germany, who has been suffering from subfebrile body temperatures and meningeal headache for six weeks. On the second day after hospital admission he developed peripheral palsy of the VII. cranial nerve. Cerebrospinal fluid (CSF) analysis showed granulocytic pleocytosis, elevated total protein and blood-CSF barrier dysfunction. Differential diagnostics for granulocytic pleocytosis were unremarkable. Only a second lumbar puncture, on day 6 after admission, revealed a lymphocytic pleocytosis. Serologic testing pointed to clear intrathecal Borrelia specific IgG antibody production. Interestingly, no anti-OspC antibodies were detectable. DNA of the rare Borrelia garinii OspA-type 7 could be amplified from the first CSF sample. The monitoring of CXCL13 in all CSF samples documented a fast decrease from 5000 pg/ml to 450 pg/ml after appropriate antibiotic treatment. Conclusion CXCL13 is a novel biomarker with high sensitivity and specificity for acute LNB. Our data show, that CXCL13 might be helpful in unclear cases and support the presumption that it might be a valuable tool for treatment monitoring. Anti-OspC antibody negativity is a rare observation, given the need of OspC for infection of the human hosts. Most likely this is due to a lack of sensitivity of OspC immunoblots that are unable to detect rare OspC variants. PMID:23228054

  7. Diagnosis and treatment of early bioprosthetic malfunction in the mitral valve position due to thrombus formation.

    PubMed

    Butnaru, Adi; Shaheen, Joseph; Tzivoni, Dan; Tauber, Rachel; Bitran, Daniel; Silberman, Shuli

    2013-11-01

    Bioprosthetic valve thrombosis is uncommon and the diagnosis is often elusive and may be confused with valve degeneration. We report our experience with mitral bioprosthetic valve thrombosis and suggest a therapeutic approach. From 2002 to 2011, 149 consecutive patients who underwent mitral valve replacement with a bioprosthesis at a single center were retrospectively screened for clinical or echocardiographic evidence of valve malfunction. Nine were found to have valve thrombus. All 9 patients had their native valve preserved, representing 24% of those with preserved native valves. Five patients (group 1) presented with symptoms of congestive heart failure at 16.4 ± 12.4 months after surgery. Echocardiogram revealed homogenous echo-dense film on the ventricular surface of the bioprosthesis with elevated transvalvular gradient, resembling early degeneration. The first 2 patients underwent reoperation: valve thrombus was found and confirmed by histologic examination. Based on these, the subsequent 3 patients received anticoagulation treatment with complete thrombus resolution: mean mitral gradient decreased from 23 ± 4 to 6 ± 1 mm Hg and tricuspid regurgitation gradient decreased from 83 ± 20 to 49 ± 5 mm Hg. Four patients (group 2) were asymptomatic, but routine echocardiogram showed a discrete mass on the ventricular aspect of the valve: 1 underwent reoperation to replace the valve and 3 received anticoagulation with complete resolution of the echocardiographic findings. In conclusion, bioprosthetic mitral thrombosis occurs in about 6% of cases. In our experience, onset is early, before anticipated valve degeneration. Clinical awareness followed by an initial trial with anticoagulation is warranted. Surgery should be reserved for those who are not responsive or patients in whom the hemodynamic status does not allow delay. Nonresection of the native valve at the initial operation may play a role in the origin of this entity.

  8. Pathfast presepsin assay for early diagnosis of systemic inflammatory response syndrome in patients with nephrolithiasis.

    PubMed

    Hou, Yan-song; Wang, Hua; Chen, Hao; Wu, Ling-feng; Lu, Lin-feng; He, Yi

    2015-01-01

    It is relatively difficult to diagnose bacterial sepsis in nephrolithiasis patients. The aim of the study is to evaluate the diagnostic ability of presepsin in the differential diagnosis including SIRS, infection, or sepsis and to compare its diagnostic value with other markers, mainly as CRP, procalcitonin (PCT), and white blood cell (WBC) in patients of nephrolithiasis presenting with SIRS. 39 patients of nephrolithiasis who were diagnosed as SIRS were prospectively investigated. Plasma presepsin was detected by Pathfast presepsin assay system; CRP and PCT were measured as well. Additionally, 25 nephrolithiasis patients without SIRS were included. At all timing samples, patients were classified as SIRS or non-SIRS group. Median plasma presepsin levels were significantly increased in the SIRS group compared with non-SIRS group (452 pg/mL versus 178 ng/mL, P < 0.001), and presepsin was markedly elevated even in the early stage of SIRS (584 pg/mL 6 h, 660 pg/mL 24 h versus 452 pg/mL, P < 0.001). According to the receiver-operating characteristic (ROC) analysis, presepsin demonstrated a high diagnostic value compared with either PCT or CRP. In the early stage of SIRS, presepsin remained a highly sensitive (74.7%) and specific (88.4%) diagnostic marker compared with either PCT, CRP, or WBC. Moreover, the areas under the curve (AUCs) of presepsin (84.6%) were also superior to those seen in either PCT (79.6%) or CRP (71.8%). Thus plasma presepsin levels have comparable performance in SIRS for patients with nephrolithiasis.

  9. Radiographic Follow-Up during Orthodontic Treatment for Early Diagnosis of Sequential Supernumerary Teeth

    PubMed Central

    Suga, Uhana Seifert Guimarães; Terada, Raquel Sano Suga

    2016-01-01

    Most supernumerary teeth are impacted and asymptomatic. Objective. The aim of this paper is to describe two cases of sequential development of supernumerary teeth in the mandibular premolar region, identified during orthodontic treatment. Reports. The first case describes the radiographic follow-up of a female patient that presented a supernumerary tooth at the age of 9 years and 10 months in the right mandibular premolar region, followed by a further supernumerary tooth in the left mandibular premolar region identified at the age of 11 years and 3 months. In the second case, the radiographic follow-up of a male patient demonstrated 3 supernumerary teeth in the premolar region at the age of 16 years. During orthognathic surgery planning at the age of 20 years and 5 months, a supplemental supernumerary tooth was found in the left mandibular region. Conclusion. Considering the late developing of supernumerary premolars, appropriate follow-up with panoramic radiographs of patients with previous experience of supernumerary teeth is essential for early diagnosis of supplemental premolars to prevent possible complications. PMID:27313911

  10. Docosahexaenoic acid conjugated near infrared flourescence probe for in vivo early tumor diagnosis

    NASA Astrophysics Data System (ADS)

    Li, Siwen; Cao, Jie; Qin, Jingyi; Zhang, Xin; Achilefu, Samuel; Qian, Zhiyu; Gu, Yueqing

    2013-02-01

    Docosahexaenoic acid(DHA) is an omega-3 C22 natural fatty acid with six cis double bonds and as a constituent of membranes used as a precursor for metabolic and biochemical path ways. In this manuscript,we describe the synthesis of near-infrared(NIR) flourescence ICG-Der-01 labeled DHA for in vitro and vivo tumor targeting.The structure of the probe was intensively characterized by UV and MS. The in vitro and vivo tumor targeting abilities of the DHA-based NIR probes were investigeted in MCF-7 cells and MCF-7 xenograft mice model differently by confocal microscopy and CCD camera. The cell cytotoxicity were tested in tumor cells MCF-7 .The results shows that the DHA-based NIR probes have high affinity with the tumor both in vitro and vivo.In addition ,we also found that the DHA-based NIR probes have the apparent cytotoxicity on MCF-7 cells .which demonstrated that DHA was conjugated with other antitumor drug could increase the abilities of antirumor efficacy .So DHA-ICG-Der-01 is a promising optical agent for diagnosis of tumors especially in their early stage.

  11. Scotopic Microperimetry in the Early Diagnosis of Age-Related Macular Degeneration: Preliminary Study

    PubMed Central

    Pescosolido, Nicola

    2014-01-01

    Background. Recent clinical studies have shown that, in some degenerative retinal diseases, like age-related macular degeneration (AMD), the sensitivity of the rods decreases more rapidly than the sensitivity of the cones. The aim of this study was to evaluate if there is a correlation between the presence of hard drusen at the macular level and the rod damage responsible for the reduction in scotopic retinal sensitivity in subjects at risk for AMD. Methods. The authors selected 24 subjects (14 men and 10 women) with an average age of 67.25 ± 5.7 years. Macular hard drusen were present in 50% of the subjects at the fundus oculi exam. The researchers evaluated the retinal sensitivity to light in mesopic and scotopic conditions of each subject with an MP-1 scotopic microperimeter (MP-1S). Results. In subjects with hard drusen in the fundus oculi examination, there was a statistically significant reduction in scotopic retinal sensitivity, while the mesopic retinal sensitivity was not compromised. Conclusion. This study revealed how the presence of hard drusen at the macular level is associated with a reduction in scotopic retinal sensitivity compared to a control group of healthy subjects. Retinal functionality in a scotopic setting examined with MP-1S could be useful in early diagnosis of AMD. PMID:25548774

  12. Enhancement of Early Cervical Cancer Diagnosis with Epithelial Layer Analysis of Fluorescence Lifetime Images

    PubMed Central

    Gu, Jun; Fu, Chit Yaw; Ng, Beng Koon; Liu, Lin Bo; Lim-Tan, Soo Kim; Lee, Caroline Guat Lay

    2015-01-01

    This work reports the use of layer analysis to aid the fluorescence lifetime diagnosis of cervical intraepithelial neoplasia (CIN) from H&E stained cervical tissue sections. The mean and standard deviation of lifetimes in single region of interest (ROI) of cervical epithelium were previously shown to correlate to the gold standard histopathological classification of early cervical cancer. These previously defined single ROIs were evenly divided into layers for analysis. A 10-layer model revealed a steady increase in fluorescence lifetime from the inner to the outer epithelial layers of healthy tissue sections, suggesting a close association with cellular maturity. The shorter lifetime and minimal lifetime increase towards the epithelial surface of CIN-affected regions are in good agreement with the absence of cellular maturation in CIN. Mean layer lifetimes in the top-half cervical epithelium were used as feature vectors for extreme learning machine (ELM) classifier discriminations. It was found that the proposed layer analysis technique greatly improves the sensitivity and specificity to 94.6% and 84.3%, respectively, which can better supplement the traditional gold standard cervical histopathological examinations. PMID:25966026

  13. Out-of-plane Stokes imaging polarimeter for early skin cancer diagnosis

    NASA Astrophysics Data System (ADS)

    Ghassemi, Pejhman; Lemaillet, Paul; Germer, Thomas A.; Shupp, Jeffrey W.; Venna, Suraj S.; Boisvert, Marc E.; Flanagan, Katherine E.; Jordan, Marion H.; Ramella-Roman, Jessica C.

    2012-07-01

    Optimal treatment of skin cancer before it metastasizes critically depends on early diagnosis and treatment. Imaging spectroscopy and polarized remittance have been utilized in the past for diagnostic purposes, but valuable information can be also obtained from the analysis of skin roughness. For this purpose, we have developed an out-of-plane hemispherical Stokes imaging polarimeter designed to monitor potential skin neoplasia based on a roughness assessment of the epidermis. The system was utilized to study the rough surface scattering for wax samples and human skin. The scattering by rough skin--simulating phantoms showed behavior that is reasonably described by a facet scattering model. Clinical tests were conducted on patients grouped as follows: benign nevi, melanocytic nevus, melanoma, and normal skin. Images were captured and analyzed, and polarization properties are presented in terms of the principal angle of the polarization ellipse and the degree of polarization. In the former case, there is separation between different groups of patients for some incidence azimuth angles. In the latter, separation between different skin samples for various incidence azimuth angles is observed.

  14. 3D shape analysis for early diagnosis of malignant lung nodules.

    PubMed

    El-Baz, Ayman; Nitzken, Matthew; Elnakib, Ahmed; Khalifa, Fahmi; Gimel'farb, Georgy; Falk, Robert; El-Ghar, Mohamed Abou

    2011-01-01

    An alternative method of diagnosing malignant lung nodules by their shape, rather than conventional growth rate, is proposed. The 3D surfaces of the detected lung nodules are delineated by spherical harmonic analysis that represents a 3D surface of the lung nodule supported by the unit sphere with a linear combination of special basis functions, called Spherical Harmonics (SHs). The proposed 3D shape analysis is carried out in five steps: (i) 3D lung nodule segmentation with a deformable 3D boundary controlled by a new prior visual appearance model; (ii) 3D Delaunay triangulation to construct a 3D mesh model of the segmented lung nodule surface; (iii) mapping this model to the unit sphere; (iv) computing the SHs for the surface; and (v) determining the number of the SHs to delineate the lung nodule. We describe the lung nodule shape complexity with a new shape index, the estimated number of the SHs, and use it for the K-nearest classification into malignant and benign lung nodules. Preliminary experiments on 327 lung nodules (153 malignant and 174 benign) resulted in a classification accuracy of 93.6%, showing that the proposed method is a promising supplement to current technologies for the early diagnosis of lung cancer.

  15. 3D shape analysis for early diagnosis of malignant lung nodules.

    PubMed

    El-Bazl, Ayman; Nitzken, Matthew; Khalifa, Fahmi; Elnakib, Ahmed; Gimel'farb, Georgy; Falk, Robert; El-Ghar, Mohammed Abo

    2011-01-01

    An alternative method for diagnosing malignant lung nodules by their shape rather than conventional growth rate is proposed. The 3D surfaces of the detected lung nodules are delineated by spherical harmonic analysis, which represents a 3D surface of the lung nodule supported by the unit sphere with a linear combination of special basis functions, called spherical harmonics (SHs). The proposed 3D shape analysis is carried out in five steps: (i) 3D lung nodule segmentation with a deformable 3D boundary controlled by two probabilistic visual appearance models (the learned prior and the estimated current appearance one); (ii) 3D Delaunay triangulation to construct a 3D mesh model of the segmented lung nodule surface; (iii) mapping this model to the unit sphere; (iv) computing the SHs for the surface, and (v) determining the number of the SHs to delineate the lung nodule. We describe the lung nodule shape complexity with a new shape index, the estimated number of the SHs, and use it for the K-nearest classification to distinguish malignant and benign lung nodules. Preliminary experiments on 327 lung nodules (153 malignant and 174 benign) resulted in the 93.6% correct classification (for the 95% confidence interval), showing that the proposed method is a promising supplement to current technologies for the early diagnosis of lung cancer.

  16. Early skin testing is effective for diagnosis of hypersensitivity reactions occurring during anesthesia.

    PubMed

    Lafuente, A; Javaloyes, G; Berroa, F; Goikoetxea, M J; Moncada, R; Núñez-Córdoba, J M; Cabrera-Freitag, P; D'Amelio, C; Sanz, M L; Gastaminza, G

    2013-06-01

    Allergic skin tests have to be performed 4-6 weeks after an allergic anesthetic reaction. Patients with allergic reactions during anesthesia were prospectively included (n = 44). Skin tests were performed in two stages: (i) Stage 1 (S1), 0-4 days after the reaction; and (ii) Stage 2 (S2), 4-8 weeks after. Five (11.5%) surgical procedures were suspended due to the reaction. Positive skin tests were obtained in 25/44 patients (57%). Allergic diagnosis was carried out at S1 in 15/25 (60%) and at S2 in 10/25 (40%). Three patients resulted positive only in S1. Overall agreement among S1 and S2 skin tests was 70.45%. The kappa statistic was 0.41 (P-value = 0.002). Odds ratio of obtaining a false negative in S1 (compared with S2) was 3.33. Early allergological study is useful, could minimize false negatives, but should be considered as a complement to late skin tests.

  17. Cadmium-induced genomic instability in Arabidopsis: Molecular toxicological biomarkers for early diagnosis of cadmium stress.

    PubMed

    Wang, Hetong; He, Lei; Song, Jie; Cui, Weina; Zhang, Yanzhao; Jia, Chunyun; Francis, Dennis; Rogers, Hilary J; Sun, Lizong; Tai, Peidong; Hui, Xiujuan; Yang, Yuesuo; Liu, Wan

    2016-05-01

    Microsatellite instability (MSI) analysis, random-amplified polymorphic DNA (RAPD), and methylation-sensitive arbitrarily primed PCR (MSAP-PCR) are methods to evaluate the toxicity of environmental pollutants in stress-treated plants and human cancer cells. Here, we evaluate these techniques to screen for genetic and epigenetic alterations of Arabidopsis plantlets exposed to 0-5.0 mg L(-1) cadmium (Cd) for 15 d. There was a substantial increase in RAPD polymorphism of 24.5, and in genomic methylation polymorphism of 30.5-34.5 at CpG and of 14.5-20 at CHG sites under Cd stress of 5.0 mg L(-1) by RAPD and of 0.25-5.0 mg L(-1) by MSAP-PCR, respectively. However, only a tiny increase of 1.5 loci by RAPD occurred under Cd stress of 4.0 mg L(-1), and an additional high dose (8.0 mg L(-1)) resulted in one repeat by MSI analysis. MSAP-PCR detected the most significant epigenetic modifications in plantlets exposed to Cd stress, and the patterns of hypermethylation and polymorphisms were consistent with inverted U-shaped dose responses. The presence of genomic methylation polymorphism in Cd-treated seedlings, prior to the onset of RAPD polymorphism, MSI and obvious growth effects, suggests that these altered DNA methylation loci are the most sensitive biomarkers for early diagnosis and risk assessment of genotoxic effects of Cd pollution in ecotoxicology.

  18. Non-invasive screening for early Alzheimer’s disease diagnosis by a sensitively immunomagnetic biosensor

    NASA Astrophysics Data System (ADS)

    Li, Shan-Shan; Lin, Chih-Wen; Wei, Kuo-Chen; Huang, Chiung-Yin; Hsu, Po-Hung; Liu, Hao-Li; Lu, Yu-Jen; Lin, Sheng-Chi; Yang, Hung-Wei; Ma, Chen-Chi M.

    2016-04-01

    Amyloid-beta peptide 1–42 (Aβ42) is considered as a reliable biomarker for the early diagnosis of Alzheimer’s disease (AD). Thus, it is urgent to develop a simple and efficient method for the detection of Aβ42. In this work, a reusable biosensor based on magnetic nitrogen-doped graphene (MNG) modified Au electrode for the detection of Aβ42 has been developed. The antibodies of Aβ 1–28 (Aβab) are used as the specific biorecognition element for Aβ42 that were conjugated on the surface of MNG. In the presence of magnetic nanoparticles on MNG, the electrode coating material, the biosensor can be quickly constructed, without requiring an electrode drying process, which reduce the analysis time and is convenient for proceeding to detection. The reusable biosensor with good reproducibility and stability was linear within the range from 5 pg mL‑1 to 800 pg mL‑1, covering the cut-off level of Aβ42 and a detection limit of 5 pg mL‑1 had been achieved. Furthermore, the fabricated biosensor for Aβ42 detection not only improves the detection performance but also reduces the cost and shortens the response time, demonstrating its potential in diagnosing applications.

  19. Can Baropodometric Analysis be a Useful Tool in the Early Diagnosis of Atypical Parkinsonism? Preliminary Findings

    PubMed Central

    Furnari, Anna; Imbesi, Donatella; La Fauci Belponer, Francesca; Militi, David; Gervasi, Giuseppe; Pastura, Concetta; Bramanti, Placido

    2014-01-01

    Objective: The differential diagnosis between atypical parkinsonism and Parkinson’s disease is difficult, especially in the early stage. Severe postural instability, falls, and complex gait impairments are usually confined to the later stage of Parkinson’s disease, while atypical parkinsonism patients may present a severe postural instability with consequent falls in the earlier stages. Methods: We retrospectively studied 20 subjects with parkinsonism using clinical and baropodometric tools to give quantitative and objective data on the postural, balance, and gait disturbances. Results: The statistical analysis between atypical parkinsonism and Parkinson’s disease patients showed a significant difference in the frequency of long lead time parameter, foot area, foot load and speed, and, in particular, atypical parkinsonism patients presented a prevalent long lead time impairment (8/8 patients) when compared with Parkinson’s disease patients. Discussion: Beside significant differences in the clinical features between the Parkinson’s disease and atypical parkinsonism, our study showed that baropodometric investigation may a valuable tool for the definition of postural and motor extrapyramidal abnormalities, permitting an earlier differentiation between atypical parkinsonism and Parkinson’s disease. PMID:24653938

  20. Rapid detection of HIV-1 proviral DNA for early infant diagnosis using recombinase polymerase amplification.

    PubMed

    Boyle, David S; Lehman, Dara A; Lillis, Lorraine; Peterson, Dylan; Singhal, Mitra; Armes, Niall; Parker, Mathew; Piepenburg, Olaf; Overbaugh, Julie

    2013-04-02

    Early diagnosis and treatment of human immunodeficiency virus type 1 (HIV-1) infection in infants can greatly reduce mortality rates. However, current infant HIV-1 diagnostics cannot reliably be performed at the point of care, often delaying treatment and compromising its efficacy. Recombinase polymerase amplification (RPA) is a novel technology that is ideal for an HIV-1 diagnostic, as it amplifies target DNA in <20 min at a constant temperature, without the need for complex thermocycling equipment. Here we tested 63 HIV-1-specific primer and probe combinations and identified two RPA assays that target distinct regions of the HIV-1 genome (long terminal repeat [LTR] and pol) and can reliably detect 3 copies of proviral DNA by the use of fluorescence detection and lateral-flow strip detection. These pol and LTR primers amplified 98.6% and 93%, respectively, of the diverse HIV-1 variants tested. This is the first example of an isothermal assay that consistently detects all of the major HIV-1 global subtypes.

  1. After Early Autism Diagnosis: Changes in Intervention and Parent-Child Interaction

    ERIC Educational Resources Information Center

    Suma, Katharine; Adamson, Lauren B.; Bakeman, Roger; Robins, Diana L.; Abrams, Danielle N.

    2016-01-01

    This study documents the relation between an autism spectrum disorder (ASD) diagnosis, increases in intervention, and changes in parent-child interaction quality. Information about intervention and observations of interaction were collected before diagnosis and a half year after diagnosis for 79 low-risk toddlers who had screened positive for ASD…

  2. Early Diagnosis of Respiratory Abnormalities in Asbestos-Exposed Workers by the Forced Oscillation Technique

    PubMed Central

    2016-01-01

    Background The current reference test for the detection of respiratory abnormalities in asbestos-exposed workers is spirometry. However, spirometry has several shortcomings that greatly affect the efficacy of current asbestos control programs. The forced oscillation technique (FOT) represents the current state-of-the-art technique in the assessment of lung function. This method provides a detailed analysis of respiratory resistance and reactance at different oscillatory frequencies during tidal breathing. Here, we evaluate the FOT as an alternative method to standard spirometry for the early detection and quantification of respiratory abnormalities in asbestos-exposed workers. Methodology/Principal findings Seventy-two subjects were analyzed. The control group was composed of 33 subjects with a normal spirometric exam who had no history of smoking or pulmonary disease. Thirty-nine subjects exposed to asbestos were also studied, including 32 volunteers in radiological category 0/0 and 7 volunteers with radiological categories of 0/1 or 1/1. FOT data were interpreted using classical parameters as well as integer (InOr) and fractional-order (FrOr) modeling. The diagnostic accuracy was evaluated by investigating the area under the receiver operating characteristic curve (AUC). Exposed workers presented increased obstruction (resistance p<0.001) and a reduced compliance (p<0.001), with a predominance of obstructive changes. The FOT parameter changes were correlated with the standard pulmonary function analysis methods (R = -0.52, p<0.001). Early respiratory abnormalities were identified with a high diagnostic accuracy (AUC = 0.987) using parameters obtained from the FrOr modeling. This accuracy was significantly better than those obtained with classical (p<0.001) and InOr (p<0.001) model parameters. Conclusions The FOT improved our knowledge about the biomechanical abnormalities in workers exposed to asbestos. Additionally, a high diagnostic accuracy in the diagnosis of

  3. On the sensitivity of thermophotonic lock-in imaging and polarized Raman spectroscopy to early dental caries diagnosis.

    PubMed

    Tabatabaei, Nima; Mandelis, Andreas; Dehghany, Mehdi; Michaelian, Kirk H; Amaechi, Bennet T

    2012-02-01

    Dental caries is the leading cause of tooth loss, which can promptly be prevented if detected in early stages of progression. Unfortunately, conventional diagnostic modalities currently used in dentistry lack the sensitivity to detect early caries. The authors' intention is to compare the ability of polarized Raman spectroscopy and thermophotonic imaging to make early caries diagnosis. Extracted human teeth with no visible stain or defects were artificially demineralized in accordance to a well-known protocol in dentistry for simulated early caries development at several demineralization stages. Samples were then inspected using polarized Raman spectroscopy and thermophotonic imaging. The sensitivities of these two diagnostic modalities are compared, and the results are verified using transverse micro-radiography. It was found that compared to polarized Raman spectroscopy, thermophotonic imaging exhibits superior sensitivity to very early stages of demineralization.

  4. On the sensitivity of thermophotonic lock-in imaging and polarized Raman spectroscopy to early dental caries diagnosis

    NASA Astrophysics Data System (ADS)

    Tabatabaei, Nima; Mandelis, Andreas; Dehghany, Mehdi; Michaelian, Kirk H.; Amaechi, Bennet T.

    2012-02-01

    Dental caries is the leading cause of tooth loss, which can promptly be prevented if detected in early stages of progression. Unfortunately, conventional diagnostic modalities currently used in dentistry lack the sensitivity to detect early caries. The authors' intention is to compare the ability of polarized Raman spectroscopy and thermophotonic imaging to make early caries diagnosis. Extracted human teeth with no visible stain or defects were artificially demineralized in accordance to a well-known protocol in dentistry for simulated early caries development at several demineralization stages. Samples were then inspected using polarized Raman spectroscopy and thermophotonic imaging. The sensitivities of these two diagnostic modalities are compared, and the results are verified using transverse micro-radiography. It was found that compared to polarized Raman spectroscopy, thermophotonic imaging exhibits superior sensitivity to very early stages of demineralization.

  5. Applications of a single-molecule detection in early disease diagnosis and enzymatic reaction study

    SciTech Connect

    Li, Jiangwei

    2008-01-01

    Various single-molecule techniques were utilized for ultra-sensitive early diagnosis of viral DNA and antigen and basic mechanism study of enzymatic reactions. DNA of human papilloma virus (HPV) served as the screening target in a flow system. Alexa Fluor 532 (AF532) labeled single-stranded DNA probes were hybridized to the target HPV-16 DNA in solution. The individual hybridized molecules were imaged with an intensified charge-coupled device (ICCD) in two ways. In the single-color mode, target molecules were detected via fluorescence from hybridized probes only. This system could detect HPV-16 DNA in the presence of human genomic DNA down to 0.7 copy/cell and had a linear dynamic range of over 6 orders of magnitude. In the dual-color mode, fluorescence resonance energy transfer (FRET) was employed to achieve zero false-positive count. We also showed that DNA extracts from Pap test specimens did not interfere with the system. A surface-based method was used to improve the throughput of the flow system. HPV-16 DNA was hybridized to probes on a glass surface and detected with a total internal reflection fluorescence (TIRF) microscope. In the single-probe mode, the whole genome and target DNA were fluorescently labeled before hybridization, and the detection limit is similar to the flow system. In the dual-probe mode, a second probe was introduced. The linear dynamic range covers 1.44-7000 copies/cell, which is typical of early infection to near-cancer stages. The dual-probe method was tested with a crudely prepared sample. Even with reduced hybridization efficiency caused by the interference of cellular materials, we were still able to differentiate infected cells from healthy cells. Detection and quantification of viral antigen with a novel single-molecule immunosorbent assay (SMISA) was achieved. Antigen from human immunodeficiency virus type 1(HIV-1) was chosen to be the target in this study. The target was sandwiched between a monoclonal capture antibody and a

  6. Diagnosis, prognosis and classification of early arthritis: results of a systematic review informing the 2016 update of the EULAR recommendations for the management of early arthritis

    PubMed Central

    Hua, Charlotte; Daien, Claire I; Combe, Bernard; Landewe, Robert

    2017-01-01

    Objective To update the evidence pertaining to the diagnosis, prognosis and classification of patients with early arthritis (EA), and to inform the 2016 European League Against Rheumatism (EULAR) recommendations for the management of patients with EA. Methods MEDLINE, EMBASE and Cochrane databases were searched up to October 2015. The first part of the systematic literature review (SLR) involved a search for studies investigating the recognition and referral of EA. The second part involved a search for studies to identify the place of laboratory and imaging tests in establishing a diagnosis and a prognosis in patients with EA. Results Regarding the issue of referral of patients with EA (1643 hits), 4 studies were included. These studies were in support of early referral for patients with EA. Regarding the issue of diagnosis and prognosis of patients with EA (11 435 hits), 88 studies were included, evaluating mainly the value of rheumatoid factor (RF) and anticitrullinated-peptide antibodies (ACPAs). Sensitivity of these antibodies for a RA diagnosis in patients with EA was moderate (40–80%). Specificity was higher, notably for ACPAs (frequently >80%). ACPAs also showed better prognostic performance than RF (negative predictive values around 80%). We confirmed that structural damage on baseline X-rays is predictive of further radiographic progression in patients with EA. Regarding other imaging modalities, data are sparse. Conclusions This SLR highlights the importance of early referral for patients with EA and confirms that RF and mainly ACPAs as well as a search for structural X-rays changes may help in the diagnosis and prognosis of patients with EA. PMID:28155923

  7. Prenatal and Early Postnatal Diagnosis of Congenital Toxoplasmosis in a Setting With No Systematic Screening in Pregnancy

    PubMed Central

    Stajner, Tijana; Bobic, Branko; Klun, Ivana; Nikolic, Aleksandra; Srbljanovic, Jelena; Uzelac, Aleksandra; Rajnpreht, Irena; Djurkovic-Djakovic, Olgica

    2016-01-01

    Abstract To determine the risk of congenital toxoplasmosis (CT) and provide early (pre- or postnatal) identification of cases of CT in the absence of systematic screening in pregnancy. In the presented cross-sectional study, serological criteria were used to date Toxoplasma gondii infection versus conception in 80 pregnant women with fetal abnormalities or referred to as suspected of acute infection, and in 16 women after delivery of symptomatic neonates. A combination of serological, molecular (qPCR), and biological (bioassay) methods was used for prenatal and/or postnatal diagnosis of CT. Most (77.5%) pregnant women were examined in advanced pregnancy. Of all the examined seropositive women (n = 90), infection could not be ruled out to have occurred during pregnancy in 93.3%, of which the majority (69%) was dated to the periconceptual period. CT was diagnosed in 25 cases, of which 17 prenatally and 8 postnatally. Molecular diagnosis proved superior, but the diagnosis of CT based on bioassay in 7 instances and by Western blot in 2 neonates shows that other methods remain indispensable. In the absence of systematic screening in pregnancy, maternal infection is often diagnosed late, or even only when fetal/neonatal infection is suspected. In such situations, use of a complex algorithm involving a combination of serological, biological, and molecular methods allows for prenatal and/or early postnatal diagnosis of CT, but lacks the preventive capacity provided by early maternal treatment. PMID:26945416

  8. After Early Autism Diagnosis: Changes in Intervention and Parent-Child Interaction.

    PubMed

    Suma, Katharine; Adamson, Lauren B; Bakeman, Roger; Robins, Diana L; Abrams, Danielle N

    2016-08-01

    This study documents the relation between an autism spectrum disorder (ASD) diagnosis, increases in intervention, and changes in parent-child interaction quality. Information about intervention and observations of interaction were collected before diagnosis and a half year after diagnosis for 79 low-risk toddlers who had screened positive for ASD risk during a well-baby checkup. Children diagnosed with ASD (n = 44) were 2.69 times more likely to increase intervention hours. After ASD diagnosis, the relation between intervention and interaction quality was complex: although increases in intervention and interaction quality were only modestly related, the overall amount of intervention after diagnosis was associated with higher quality interactions. Moreover, lower quality interactions before diagnosis significantly increased the likelihood that intervention would increase post-diagnosis.

  9. Detection, modeling and matching of pleural thickenings from CT data towards an early diagnosis of malignant pleural mesothelioma

    NASA Astrophysics Data System (ADS)

    Chaisaowong, Kraisorn; Kraus, Thomas

    2014-03-01

    Pleural thickenings can be caused by asbestos exposure and may evolve into malignant pleural mesothelioma. While an early diagnosis plays the key role to an early treatment, and therefore helping to reduce morbidity, the growth rate of a pleural thickening can be in turn essential evidence to an early diagnosis of the pleural mesothelioma. The detection of pleural thickenings is today done by a visual inspection of CT data, which is time-consuming and underlies the physician's subjective judgment. Computer-assisted diagnosis systems to automatically assess pleural mesothelioma have been reported worldwide. But in this paper, an image analysis pipeline to automatically detect pleural thickenings and measure their volume is described. We first delineate automatically the pleural contour in the CT images. An adaptive surface-base smoothing technique is then applied to the pleural contours to identify all potential thickenings. A following tissue-specific topology-oriented detection based on a probabilistic Hounsfield Unit model of pleural plaques specify then the genuine pleural thickenings among them. The assessment of the detected pleural thickenings is based on the volumetry of the 3D model, created by mesh construction algorithm followed by Laplace-Beltrami eigenfunction expansion surface smoothing technique. Finally, the spatiotemporal matching of pleural thickenings from consecutive CT data is carried out based on the semi-automatic lung registration towards the assessment of its growth rate. With these methods, a new computer-assisted diagnosis system is presented in order to assure a precise and reproducible assessment of pleural thickenings towards the diagnosis of the pleural mesothelioma in its early stage.

  10. Circulating microRNAs as biomarkers for the early diagnosis of childhood tuberculosis infection.

    PubMed

    Zhou, Mengyao; Yu, Guangyuan; Yang, Xiantao; Zhu, Chaomin; Zhang, Zhenzhen; Zhan, Xue

    2016-06-01

    MicroRNAs (miRNAs) are a class of highly conserved, single-stranded RNA molecules (length, 18-25 nt) that regulate the expression of their target mRNAs. Previous studies have demonstrated that miRNAs may be novel biomarkers in the diagnosis of certain diseases. In order to evaluate the diagnostic value of miRNAs in childhood tuberculosis (TB), the circulating miRNA profile was determined using microarray analysis. An miRNA‑gene network was constructed to identify closely associated miRNAs and these miRNAs were validated using reverse transcription‑quantitative polymerase chain reaction (RT‑qPCR). A receiver operational curve (ROC) was used to evaluate the diagnostic sensitivity and specificity of confirmed miRNAs. The microarray data demonstrated that 29 miRNAs were altered with 15 upregulated and 14 downregulated. The network showed indicated 14 miRNAs that are critical in childhood TB. RT-qPCR validated that miR-1, miR-155, miR‑31, miR‑146a, miR‑10a, miR‑125b and miR‑150 were downregulated in while miR‑29 was upregulated in children with TB compared with uninfected children. The ROC curve data indicated the diagnostic value of single miRNA was as follows: miR‑150>miR‑146a>miR‑125b>miR‑31>miR‑10a>miR‑1>miR‑155>miR‑29. Notably, a combination of these miRNAs exhibited increased diagnostic value compared with any single miRNA. To the best of our knowledge, the present study is the first to identify the expression profile of circulating miRNAs in childhood TB and demonstrated that miRNAs may be a novel, non‑invasive and effective biomarker for the early diagnosis of childhood TB.

  11. A Bayesian Model for the Prediction and Early Diagnosis of Alzheimer's Disease

    PubMed Central

    Alexiou, Athanasios; Mantzavinos, Vasileios D.; Greig, Nigel H.; Kamal, Mohammad A.

    2017-01-01

    Alzheimer's disease treatment is still an open problem. The diversity of symptoms, the alterations in common pathophysiology, the existence of asymptomatic cases, the different types of sporadic and familial Alzheimer's and their relevance with other types of dementia and comorbidities, have already created a myth-fear against the leading disease of the twenty first century. Many failed latest clinical trials and novel medications have revealed the early diagnosis as the most critical treatment solution, even though scientists tested the amyloid hypothesis and few related drugs. Unfortunately, latest studies have indicated that the disease begins at the very young ages thus making it difficult to determine the right time of proper treatment. By taking into consideration all these multivariate aspects and unreliable factors against an appropriate treatment, we focused our research on a non-classic statistical evaluation of the most known and accepted Alzheimer's biomarkers. Therefore, in this paper, the code and few experimental results of a computational Bayesian tool have being reported, dedicated to the correlation and assessment of several Alzheimer's biomarkers to export a probabilistic medical prognostic process. This new statistical software is executable in the Bayesian software Winbugs, based on the latest Alzheimer's classification and the formulation of the known relative probabilities of the various biomarkers, correlated with Alzheimer's progression, through a set of discrete distributions. A user-friendly web page has been implemented for the supporting of medical doctors and researchers, to upload Alzheimer's tests and receive statistics on the occurrence of Alzheimer's disease development or presence, due to abnormal testing in one or more biomarkers.

  12. Magnetic sifters and biochips for early diagnosis and therapy monitoring of cancer

    NASA Astrophysics Data System (ADS)

    Earhart, Chris

    2008-03-01

    Magnetic nanoparticles conjugated with biomolecules or recognition moieties are finding wide applications in medicine. In this context, we are developing a micromachined magnetic sifter and magnetic nanoparticles aimed for sample preparation applications in early diagnosis of cancer. The microfabricated sifter consisting of arrays of micron sized slits etched through a silicon wafer. A magnetic film is deposited on the wafer, producing high magnetic field gradients, comparable in magnitude to gradients in planar flow devices. As the solution flows through the die, magnetic particles are captured by the magnetic material surrounding the slits. The large number of slits allows for processing of large volumes of liquid, much greater than that of planar microfluidic devices. The sifters can be simply attached to a syringe or tube, resulting in a portable and user-friendly tool for molecular biology. Separation efficiencies of ˜ 50% for one pass through the sifter have been achieved. We have also designed and fabricated several types of magnetic biochips consisting of arrays of giant magnetoresistive (GMR) spin valve detectors with appropriate dimensions, surface chemistry, and microfluidics. An advanced electronic test station has been set up as a demonstration vehicle for the integrated evaluation of our magnetic biochips with commercial and custom magnetic nanoparticle labels for DNA or protein biomarkers. The magnetic biochip is capable of detecting down to 1-30 nanotags. Real-time detection of DNA signatures and protein targets in buffer and serum samples has been successfully performed in our laboratories, suggesting that magnetic biochips hold great promises for molecular diagnostics of cancer and other diseases. In collaboration with Chris M. Earhart, Wei Hu, Robert J. Wilson, Sebastian J. Osterfeld, Robert L. White, Nader Pourmand, and Shan X. Wang @ Stanford University. This work was supported by grants from NIH (1U54CA119367-01) and DARPA/Navy (N00014-02-1-0807).

  13. HPV and oral lesions: preventive possibilities, vaccines and early diagnosis of malignant lesions

    PubMed Central

    TESTI, D.; NARDONE, M.; MELONE, P.; CARDELLI, P.; OTTRIA, L.; ARCURI, C.

    2015-01-01

    SUMMARY The importance of HPV in world healthy is high, in fact high-risk HPV types contribute significantly to viral associated neoplasms. In this article we will analyze vary expression of HPV in oral cavity both benign and malignant, their prevalence and the importance in early diagnosis and prevention. The classical oral lesions associated with human papillomavirus are squamous cell papilloma, condyloma acuminatum, verruca vulgaris and focal epithelial hyperplasia. Overall, HPV types 2, 4, 6, 11, 13 and 32 have been associated with benign oral lesions while HPV types 16 and 18 have been associated with malignant lesions, especially in cancers of the tonsils and elsewhere in the oropharynx. Transmission of the virus can occur with direct contact, genital contact, anal and oral sex; latest studies suggest a salivary transmission and from mother to child during delivery. The number of lifetime sexual partners is an important risk factor for the development of HPV-positive head-neck cancer. Oral/oropharyngeal cancer etiologically associated with HPV having an increased survival and a better prognostic (85%–90% to five years). There is no cure for the virus. There are two commercially available prophylactic vaccines against HPV today: the bivalent (16 and 18) Cervarix® and the tetravalent (6, 11, 16 and 18) Gardasil® and new vaccine Gardasil 9 (6, 11, 16, 18, 31, 33, 45, 52, 58) was approved in the United States. To be effective, such vaccination should start before “sexual puberty”. The vaccine could be an important preventive strategy, in fact the scientific community is in agreement on hypothesis that blocking the contagion it may also limit the distance complications as the oropharyngeal cancer. PMID:27555904

  14. Effect of structured teaching programme on VIA test for early detection and diagnosis of cervical cancer.

    PubMed

    Chacko, Shiny

    2014-01-01

    The conceptual framework of the study, undertaken in select health centres of New Delhi, was based on General System Model. The research approach was evaluative with one group pre-test and post-test design. The study population comprised of Community Health Workers working in selected centres in Najafgarh, Delhi. Purposive sampling technique was used to select a sample of 30 Community Health Workers. A structured knowledge questionnaire was developed to assess the knowledge of subjects. A Structured Teaching Programme was developed to enhance the knowledge of Community Health Workers. Pre-test was given on day 1 and Structured Teaching Programme administered on same day. Post-test was conducted on day 7. Most of the Community Health Workers were in the age group of 21-30 years with academic qualification up to Higher Secondary level. Maximum Community Health Workers had professional qualification as ANM/MPHW (female). Majority of the Community Health Workers had experience up to 5 years. Initially there was deficit in scores of knowledge of Community Health Workers regarding Visual Inspection with Acetic Acid (VIA) test. Mean post-test knowledge scores of Community Health Workers were found to be signifi- cantly higher than their mean pre-test knowledge score. The Community Health Workers after expo- sure to Structured Teaching Programme gained a significant positive relationship between post-test knowledge scores. The study reveals the efficacy of Structured Teaching Programme in enhancing the knowledge of Community Health Workers regarding VIA test and a need for conducting a regular and well planned health teaching programme on VIA test for improving their knowledge on VIA test for the early detection and diagnosis of cervical cancer.

  15. Prevalence and incidence of retinopathy in elderly diabetic patients receiving early diagnosis and treatment

    PubMed Central

    LI, XIN; WANG, ZHAOYAN

    2013-01-01

    Diabetic retinopathy (DR) is one of the most common and specific complications of diabetes. Thus, intervention is required to lower the incidence and prevalence of sight-threatening retinopathy. The aim of this study was to investigate the prevalence and incidence of diabetic retinopathy in elderly diabetic patients receiving early diagnosis and proper treatment and to explore risk factors for DR. From May 2005 to May 2011, fundus examination was performed for elderly diabetic patients during routine medical examinations. The presence of a microaneurysm or more severe presentations was used to diagnose DR, which was followed by fundus fluorescein angiography. Logistic regression analysis was employed to analyze the risk factors for DR development within 5 years. A total of 2,194 diabetic patients were recruited and followed-up for a mean of 5.8 years. The prevalence of DR was 15.38–16.20% and the incidence of DR was 8.38/1,000 person-years. Logistic multiple stepwise regression revealed that fasting plasma glucose (FPG), mean arterial pressure (MAP), duration of diabetes, body mass index (BMI) and microalbuminuria (MAU) were significantly associated with the occurrence of DR (all P<0.05). In the present study, the prevalence and incidence of DM were higher compared with those reported in the general population; however, the prevalence and incidence of DR were lower compared with those reported in similar studies. This suggests that favorable control of blood glucose, blood pressure and blood lipids effectively prevents the occurrence of DR in diabetic patients. PMID:23737887

  16. Early mastitis diagnosis through topological analysis of biosignals from low-voltage alternate current electrokinetics.

    PubMed

    Zhifei Zhang; Yang Song; Haochen Cui; Wu, Jayne; Schwartz, Fernando; Hairong Qi

    2015-08-01

    Mastitis is the most economically important disease of dairy cows worldwide, and it constantly plagues the dairy industry. A reliable biosensing method is thus imperative to detect this disease at its early stage and accurately identify the pathogen concentration level in order to better control the disease and consequently improve the quality of milk. Recent research indicates that shorter assay time and/or higher sensitivity can be achieved by integrating alternate current electrokinetics (ACEK) with biosensing. However, most existing ACEK devices use voltage levels around 10V at the risk of electrochemical reactions because a lower voltage may not effectively trigger the ACEK effect. Currently, there are no related works that can efficiently tackle the dilemma between avoiding electrochemical reaction and accelerating assay process. This paper adopts low-voltage (40~135mV) ACEK, which is safe but yields ambiguous biosignals within a short assay time, presenting great challenge to high-fidelity identification of pathogen concentration levels. This paper makes two distinctive contributions to the field of biosignal analysis. First, moving away from the traditional signal analysis in the time or spectral domain, we exploit the possibility of representing the biosignal through topological analysis that would reveal the intrinsic topological structure of point clouds generated from the biosignal. Second, in order to tackle another common challenge of biosignal analysis, i.e., limited sample size, we propose a so-called Gaussian-based decision tree (GDT), which can efficiently classify the biosignals even when the sample size is extremely small. Experimental results on the classification of five pathogen concentration levels using only 10 samples taken under various voltage levels demonstrate the robustness of the topological features as well as the advantage of GDT over some other conventional classifiers in handling small dataset. Our method reduces the voltage of

  17. Dilatation and curettage is more accurate than endometrial aspiration biopsy in early-stage endometrial cancer patients treated with high dose oral progestin and levonorgestrel intrauterine system

    PubMed Central

    2017-01-01

    Objective To determine whether less invasive endometrial (EM) aspiration biopsy is adequately accurate for evaluating treatment outcomes compared to the dilatation and curettage (D&C) biopsy in early-stage endometrial cancer (EC) patients treated with high dose oral progestin and levonorgestrel intrauterine system (LNG-IUS). Methods We conducted a prospective observational study with patients younger than 40 years who were diagnosed with clinical stage IA, The International Federation of Gynecology and Obstetrics grade 1 or 2 endometrioid adenocarcinoma and sought to maintain their fertility. The patients were treated with medroxyprogesterone acetate 500 mg/day and LNG-IUS. Treatment responses were evaluated every 3 months. EM aspiration biopsy was conducted after LNG-IUS removal followed D&C. The tissue samples were histologically compared. The diagnostic concordance rate of the two tests was examined with κ statistics. Results Twenty-eight pairs of EM samples were obtained from five patients. The diagnostic concordance rate of D&C and EM aspiration biopsy was 39.3% (κ value=0.26). Of the seven samples diagnosed as normal with D&C, three (42.8%) were diagnosed as normal by using EM aspiration biopsy. Of the eight samples diagnosed with endometrioid adenocarcinoma by using D&C, three (37.5%) were diagnosed with endometrioid adenocarcinoma by using EM aspiration biopsy. Of the 13 complex EM hyperplasia samples diagnosed with the D&C, five (38.5%) were diagnosed with EM hyperplasia by using EM aspiration biopsy. Of the samples obtained through EM aspiration, 46.4% were insufficient for histological evaluation. Conclusion To evaluate the treatment responses of patients with early-stage EC treated with high dose oral progestin and LNG-IUS, D&C should be conducted after LNG-IUS removal. PMID:27670255

  18. Fiber optic probe enabled by surface-enhanced Raman scattering for early diagnosis of potential acute rejection of kidney transplant

    NASA Astrophysics Data System (ADS)

    Chi, Jingmao; Chen, Hui; Tolias, Peter; Du, Henry

    2014-06-01

    We have explored the use of a fiber-optic probe with surface-enhanced Raman scattering (SERS) sensing modality for early, noninvasive and, rapid diagnosis of potential renal acute rejection (AR) and other renal graft dysfunction of kidney transplant patients. Multimode silica optical fiber immobilized with colloidal Ag nanoparticles at the distal end was used for SERS measurements of as-collected urine samples at 632.8 nm excitation wavelength. All patients with abnormal renal graft function (3 AR episodes and 2 graft failure episodes) who were clinically diagnosed independently show common unique SERS spectral features in the urines collected just one day after transplant. SERS-based fiber-optic probe has excellent potential to be a bedside tool for early diagnosis of kidney transplant patients for timely medical intervention of patients at high risk of transplant dysfunction.

  19. First imported Plasmodium ovale malaria in Central America: case report of a Guatemalan soldier and a call to improve its accurate diagnosis.

    PubMed

    Castellanos, María Eugenia; Díaz, Sheilee; Parsons, Emily; Peruski, Leonard F; Enríquez, Fabiola; Ramírez, Juan Luis; Padilla, Norma

    2015-01-01

    The Mesoamerican Ministers of Health have set 2020 as the target for malaria elimination to be achieved in the region. Imported malaria cases are a potential threat to countries attempting elimination or working to prevent resurgence. We report the first imported Plasmodium ovale infection with molecular confirmation in Central America, which occurred in a Guatemalan soldier that had been deployed in Africa. The obstacles for its diagnosis using the standard microscopy technique and the need to improve its detection are discussed.

  20. Exogenous ochronosis in a Chinese patient: use of dermoscopy aids early diagnosis and selection of biopsy site.

    PubMed

    Liu, Wen Chun; Tey, Hong Liang; Lee, Joyce Siong See; Goh, Boon Kee

    2014-01-01

    The diagnosis of exogenous ochronosis is often challenging and requires a high index of suspicion. Herein, we report a case of exogenous ochronosis in a Chinese patient. The condition was caused by the use of bleaching agents, including creams containing hydroquinone. We demonstrate the use of dermoscopy as an invaluable tool for the early recognition of the condition, as well as in the selection of an appropriate site for a skin biopsy.

  1. Exogenous ochronosis in a Chinese patient: use of dermoscopy aids early diagnosis and selection of biopsy site

    PubMed Central

    Liu, Wen Chun; Tey, Hong Liang; Lee, Joyce Siong See; Goh, Boon Kee

    2014-01-01

    The diagnosis of exogenous ochronosis is often challenging and requires a high index of suspicion. Herein, we report a case of exogenous ochronosis in a Chinese patient. The condition was caused by the use of bleaching agents, including creams containing hydroquinone. We demonstrate the use of dermoscopy as an invaluable tool for the early recognition of the condition, as well as in the selection of an appropriate site for a skin biopsy. PMID:24452981

  2. Application of a real time Polymerase Chain Reaction (PCR) assay for the early diagnosis of human leptospirosis in Sri Lanka.

    PubMed

    Denipitiya, D T H; Chandrasekharan, N V; Abeyewickreme, W; Hartskeerl, C M; Hartskeerl, R A; Jiffrey, A M; Hapugoda, M D

    2016-11-01

    Leptospirosis has a major impact on health in Sri Lanka but is probably grossly under-recognized due to difficulties in clinical diagnosis and lack of diagnostic laboratory services. The objective of this study was to establish and evaluate a SYBR Green-based real-time Polymerase Chain Reaction (rt-PCR) assay for early, rapid and definitive laboratory diagnosis of leptospirosis in Sri Lanka. The rt-PCR assay was established and analytical specificity and sensitivity were determined using reference DNA samples. Evaluation of the assay for diagnosis of clinical samples was performed using two panels of serum samples obtained from 111 clinically suspected adult patients. Patients were confirmed as leptospirosis (n = 65) and non-leptospirosis (n = 30) by the Patoc - MAT. Other 16 samples gave ambiguous results. The analytical sensitivity of the rt-PCR was approximately 60 genome copies and no cross-reactivity was observed with saprophytic Leptospira spp. and other pathogenic microorganisms. Based on confirmation with Patoc-MAT on paired samples this corresponds to a diagnostic sensitivity and specificity of 67.7% (44/65) and 90.0% (27/30), respectively. This study showed that rt-PCR has the potential to facilitate rapid and definitive diagnosis of leptospirosis during early phase of infection in Sri Lanka.

  3. The Early Intervention Readiness Program (EIRP): A Post-ASD Diagnosis Family Support Program

    ERIC Educational Resources Information Center

    Tolmie, Rhiannon S.; Bruck, Susan; Kerslake, Rachel

    2017-01-01

    A child's diagnosis with autism spectrum disorder (ASD) can be an extremely stressful time for families. Researchers suggest that the period immediately following ASD diagnosis is a key time for professionals to guide families by providing appropriate information about support options. This article describes a family support program, developed by…

  4. Genetic Testing Confirmed the Early Diagnosis of X-Linked Hypophosphatemic Rickets in a 7-Month-Old Infant

    PubMed Central

    Poon, Kok Siong; Sng, Andrew Anjian; Ho, Cindy Weili; Koay, Evelyn Siew-Chuan

    2015-01-01

    Loss-of-function mutations in the phosphate regulating gene with homologies to endopeptidases on the X-chromosome (PHEX) have been causally associated with X-linked hypophosphatemic rickets (XLHR). The early diagnosis of XLHR in infants is challenging when it is based solely on clinical features and biochemical findings. We report a 7-month-old boy with a family history of hypophosphatemic rickets., who demonstrated early clinical evidence of rickets, although serial biochemical findings could not definitively confirm rickets. A sequencing assay targeting the PHEX gene was first performed on the mother’s DNA to screen for mutations in the 5′UTR, 22 coding exons, and the exon-intron junctions. Targeted mutation analysis and mRNA studies were subsequently performed on the boys’ DNA to investigate the pathogenicity of the identified mutation. Genetic screening of the PHEX gene revealed a novel mutation, c.1080-2A>C, at the splice acceptor site in intron 9. The detection of an aberrant mRNA transcript with skipped (loss of) exon 10 establishes its pathogenicity and confirms the diagnosis of XLHR in this infant. Genetic testing of the PHEX gene resulted in early diagnosis of XLHR, thus enabling initiation of therapy and prevention of progressive rachitic changes in the infant. PMID:26904698

  5. Genetic Testing Confirmed the Early Diagnosis of X-Linked Hypophosphatemic Rickets in a 7-Month-Old Infant.

    PubMed

    Poon, Kok Siong; Sng, Andrew Anjian; Ho, Cindy Weili; Koay, Evelyn Siew-Chuan; Loke, Kah Yin

    2015-01-01

    Loss-of-function mutations in the phosphate regulating gene with homologies to endopeptidases on the X-chromosome (PHEX) have been causally associated with X-linked hypophosphatemic rickets (XLHR). The early diagnosis of XLHR in infants is challenging when it is based solely on clinical features and biochemical findings. We report a 7-month-old boy with a family history of hypophosphatemic rickets., who demonstrated early clinical evidence of rickets, although serial biochemical findings could not definitively confirm rickets. A sequencing assay targeting the PHEX gene was first performed on the mother's DNA to screen for mutations in the 5'UTR, 22 coding exons, and the exon-intron junctions. Targeted mutation analysis and mRNA studies were subsequently performed on the boys' DNA to investigate the pathogenicity of the identified mutation. Genetic screening of the PHEX gene revealed a novel mutation, c.1080-2A>C, at the splice acceptor site in intron 9. The detection of an aberrant mRNA transcript with skipped (loss of) exon 10 establishes its pathogenicity and confirms the diagnosis of XLHR in this infant. Genetic testing of the PHEX gene resulted in early diagnosis of XLHR, thus enabling initiation of therapy and prevention of progressive rachitic changes in the infant.

  6. Risk factors of delayed diagnosis of acute appendicitis in children: for early detection of acute appendicitis

    PubMed Central

    Choi, Jea Yeon; Jo, Jeong Hyun; Hann, Tchah; Kim, Seong Min

    2016-01-01

    Purpose This study examined the risk factors of a delayed diagnosis of acute appendicitis in children undergoing an appendectomy. Methods This retrospective study involved children aged below 18 years, who underwent an appendectomy. After dividing them into a delayed diagnosis group and nondelayed diagnosis group according to the time interval between the initial hospital visit and final diagnosis, the risk factors of delayed diagnosis were identified using logistic regression analysis. Results Among 712 patients, 105 patients (14.7%) were classified in the delayed diagnosis group; 92 patients (12.9%) were diagnosed using ultrasonography (US), and both US and computed tomography were performed in 38 patients (5.3%). More patients in the delayed diagnosis group underwent US (P=0.03). Spring season and prior local clinic visit were significantly associated with a delayed diagnosis. Fever and diarrhea were more common in the delayed diagnosis group (fever: odds ratio [OR], 1.37; 95% confidence interval [CI], 1.05–1.81; diarrhea: OR, 1.94; 95% CI, 1.08–3.46; P<0.05). These patients showed symptoms for a longer duration (OR, 2.59; 95% CI, 1.78–3.78; P<0.05), and the admission course (OR, 1.26; 95% CI, 1.11–1.44; P<0.05) and C-reactive protein (CRP) levels (OR, 1.47; 95% CI, 1.19–1.82; P<0.05) were associated with the delayed diagnosis. Conclusion To decrease the rate of delayed diagnoses of acute appendicitis, symptoms such as fever and diarrhea, seasonal variations, admission course, and CRP levels should be considered and children with a longer duration of symptoms should be closely monitored. PMID:27721841

  7. [Laboratory diagnosis of Treponema pallidum infection in patients with early syphilis and neurosyphilis through a PCR-based test].

    PubMed

    García, Patricia; Grassi, Bruno; Fich, Félix; Salvo, Aurelio; Araya, Luis; Abarzúa, Fernando; Soto, Julia; Poggi, Helena; Lagos, Marcela; Vásquez, Patricia; León, Eugenia P; Pérez, Carlos; Wozniak, Aniela

    2011-08-01

    Syphilis is a sexually transmitted disease caused by Treponema pallidum. The diagnosis is based mainly in clinical presentation and non-specific assays. PCR-based diagnosis has been suggested as an attractive alternative method. The aim of this study was the validation of a PCR-based test for the diagnosis of early syphilis (ES) and neurosyphilis (NS). Clinical samples of mucocutaneous lesions and cerebrospinal fluid (CSF) specimens from patients previously diagnosed for ES and NS respectively using an enlarged gold standard, were tested by PCR. The reaction was done using primers targeting the tpN47 gene. Twenty out of 21 mucocutaneous samples from patients diagnosed with ES were positive by PCR, with a clinical sensitivity of 95%. Four out of 8 CSF samples from patients previously diagnosed with NS were positive by PCR, with a clinical sensitivity of 50%. The clinical specificity for both ES and NS was 100%. The PCR sensitivity and specificity for mucocutaneous samples allowed us to implement this assay in our laboratory for routine diagnosis. Although the sensitivity of the PCR in CSF was low, it may be useful to support clinical diagnosis.

  8. Optical diagnosis of acute scrotum in children

    NASA Astrophysics Data System (ADS)

    Shadgan, Babak; Macnab, Andrew; Stothers, Lynn; Nigro, Mark; Afshar, Kourosh; Kajbafzadeh, A. M.

    2015-03-01

    Acute scrotum is a urologic condition defined by scrotal pain, swelling, and redness of acute onset. Prompt diagnosis and treatment are necessary to preserve testicular viability. The history and clinical symptoms reported are key to diagnosis and proper treatment, but are not always readily obtained in children, in whom common causes of acute scrotum include testicular torsion, torsion of the appendix testis, and epididymitis. These acute conditions have different causal pathology that mandate specific treatment, hence the importance of early and accurate diagnosis.

  9. Utility of cytokine, adhesion molecule and acute phase proteins in early diagnosis of neonatal sepsis

    PubMed Central

    Fattah, M. A.; Omer, Al Fadhil A.; Asaif, S.; Manlulu, R.; Karar, T.; Ahmed, A.; Aljada, A.; Saleh, Ayman M.; Qureshi, Shoeb; Nasr, A.

    2017-01-01

    Background and Aim: Neonatal infection, including bacterial sepsis, is a major health care issue with an annual global mortality in excess of one million lives. Therefore, this study aimed to evaluate the potential diagnostic value of C-reactive protein (CRP), E-selectin, procalcitonin (PCT), interleukins-6 (IL-6), and tumor necrosis factor-α (TNF-α) both independently and in combination for the diagnosis of neonatal sepsis in its earliest stages. Materials and Methods: A total of 320 subjects were included in this study. A prospective cross-sectional study was conducted among neonates admitted to Neonatal Intensive Care Unit at King Abdulaziz Medical City, Riyadh, KSA during January 2013 to August 2015, the study based on three study groups categorized according to clinical symptoms and blood culture result. Study groups include healthy control neonates (n = 80), clinical sepsis (CS) group (n = 80) with clinical signs of sepsis but their blood culture was negative, and sepsis group with clinical signs of sepsis and their blood culture was positive. Results: The study observed significant difference in plasma levels of CRP, IL-6, TNF-α, E-selectin, and PCT in patients group when compared with control group (P < 0.001). Furthermore, the levels are significantly different between patient groups including CS and neonatal sepsis group. Moreover, result observed significant difference in CRP and IL-6 in early onset sepsis (EOS) when compared with late onset sepsis (LOS) neonates (P < 0.001 and 0.01), respectively, while there were no significant difference in TNF-α, E-selectin, and PCT between EOS and LOS (P = 0.44, 0.27 and 0.24), respectively. Regarding biomarkers accuracy, the result showed that CRP has the best diagnostic accuracy with cutoff value of 3.6 ng/ml (sensitivity 78% and specificity of 70%). The best combination is shown with CRP and IL-6 in which sensitivity increased to 89% and specificity to 79%. Conclusion: It was concluded that infected new

  10. Clinical undernutrition in 2014; pathogenesis, early diagnosis and consequences; undernutrition and trophopathy.

    PubMed

    de Ulíbarri Pérez, José Ignacio

    2014-01-13

    amount of risks which could derive from an imbalanced nutritional status. The use of automated systems to predict and control the risk factors during the clinical phase makes it possible to have a more thorough control of the illness from its origins, allowing an early diagnosis and treatment of it.

  11. Peripheral biomarkers in Autism: secreted amyloid precursor protein-alpha as a probable key player in early diagnosis.

    PubMed

    Bailey, Antoinette R; Giunta, Brian N; Obregon, Demian; Nikolic, William V; Tian, Jun; Sanberg, Cyndy D; Sutton, Danielle T; Tan, Jun

    2008-01-01

    Autism is a pervasive developmental disorder characterized by impairments in socialization and communication. There is currently no single molecular marker or laboratory tool capable of diagnosing autism at an early age. The purpose of this study is to explore the plausible use of peripheral biomarkers in the early diagnosis of autism via a sensitive ELISA. Here, we measured plasma secreted amyloid precursor protein alpha (sAPP-alpha) levels in autistic and aged-matched control blood samples and found a significantly increased level of sAPP-alpha in 60% of the known autistic children. We then tested 150 human umbilical cord blood (HUCB) samples and found significantly elevated levels of plasma sAPP-alpha in 10 of 150 samples. As an additional confirmatory measure, we performed Western blot analysis on these samples which consistently showed increased sAPP-alpha levels in autistic children and 10 of 150 HUCB samples; suggesting a group of autistic patients which could be identified in early childhood by levels of sAPP-alpha. While there is need for further studies of this concept, the measurement of sAPP-alpha levels in serum and human umbilical cord blood by ELISA is a potential tool for early diagnosis of autism.

  12. Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis.

    PubMed

    Martin, Hilary C; Kim, Grace E; Pagnamenta, Alistair T; Murakami, Yoshiko; Carvill, Gemma L; Meyer, Esther; Copley, Richard R; Rimmer, Andrew; Barcia, Giulia; Fleming, Matthew R; Kronengold, Jack; Brown, Maile R; Hudspith, Karl A; Broxholme, John; Kanapin, Alexander; Cazier, Jean-Baptiste; Kinoshita, Taroh; Nabbout, Rima; Bentley, David; McVean, Gil; Heavin, Sinéad; Zaiwalla, Zenobia; McShane, Tony; Mefford, Heather C; Shears, Deborah; Stewart, Helen; Kurian, Manju A; Scheffer, Ingrid E; Blair, Edward; Donnelly, Peter; Kaczmarek, Leonard K; Taylor, Jenny C

    2014-06-15

    In severe early-onset epilepsy, precise clinical and molecular genetic diagnosis is complex, as many metabolic and electro-physiological processes have been implicated in disease causation. The clinical phenotypes share many features such as complex seizure types and developmental delay. Molecular diagnosis has historically been confined to sequential testing of candidate genes known to be associated with specific sub-phenotypes, but the diagnostic yield of this approach can be low. We conducted whole-genome sequencing (WGS) on six patients with severe early-onset epilepsy who had previously been refractory to molecular diagnosis, and their parents. Four of these patients had a clinical diagnosis of Ohtahara Syndrome (OS) and two patients had severe non-syndromic early-onset epilepsy (NSEOE). In two OS cases, we found de novo non-synonymous mutations in the genes KCNQ2 and SCN2A. In a third OS case, WGS revealed paternal isodisomy for chromosome 9, leading to identification of the causal homozygous missense variant in KCNT1, which produced a substantial increase in potassium channel current. The fourth OS patient had a recessive mutation in PIGQ that led to exon skipping and defective glycophosphatidyl inositol biosynthesis. The two patients with NSEOE had likely pathogenic de novo mutations in CBL and CSNK1G1, respectively. Mutations in these genes were not found among 500 additional individuals with epilepsy. This work reveals two novel genes for OS, KCNT1 and PIGQ. It also uncovers unexpected genetic mechanisms and emphasizes the power of WGS as a clinical tool for making molecular diagnoses, particularly for highly heterogeneous disorders.

  13. Molecular Biomarkers of Pancreatic Intraepithelial Neoplasia and Their Implications in Early Diagnosis and Therapeutic Intervention of Pancreatic Cancer

    PubMed Central

    Guo, Junli; Xie, Keping; Zheng, Shaojiang

    2016-01-01

    Lack of early detection and effective interventions is a major reason for the poor prognosis and dismal survival rates for pancreatic cancer. Pancreatic intraepithelial neoplasia (PanIN) is the most common precursor of invasive pancreatic ductal adenocarcinoma (PDAC). Each stage in the progression from PanIN to PDAC is well characterized by multiple significant genetic alterations affecting signaling pathways. Understanding the biological behavior and molecular alterations in the progression from PanIN to PDAC is crucial to the identification of noninvasive biomarkers for early detection and diagnosis and the development of preventive and therapeutic strategies for control of pancreatic cancer progression. This review focuses on molecular biomarkers of PanIN and their important roles in early detection and treatment of pancreatic cancer. PMID:26929736

  14. The Role of Single-Subject Brain Metabolic Patterns in the Early Differential Diagnosis of Primary Progressive Aphasias and in Prediction of Progression to Dementia

    PubMed Central

    Cerami, Chiara; Dodich, Alessandra; Greco, Lucia; Iannaccone, Sandro; Magnani, Giuseppe; Marcone, Alessandra; Pelagallo, Elisabetta; Santangelo, Roberto; Cappa, Stefano F.; Perani, Daniela

    2016-01-01

    Background and Objective: Primary progressive aphasia (PPA) is a clinical syndrome due to different neurodegenerative conditions in which an accurate early diagnosis needs to be supported by a reliable diagnostic tool at the individual level. In this study, we investigated in PPA the FDG-PET brain metabolic patterns at the single-subject level, in order to assess the case-to-case variability and its relationship with clinical-neuropsychological findings. Material and Methods: 55 patients (i.e., 11 semantic variant/sv-PPA, 19 non fluent variant/nfv-PPA, 17 logopenic variant/lv-PPA, 3 slowly progressive anarthria/SPA, and 5 mixed PPA/m-PPA) were included. Clinical-neuropsychological information and FDG-PET data were acquired at baseline. A follow-up of 27.4±12.55 months evaluated the clinical progression. Brain metabolism was analyzed using an optimized and validated voxel-based SPM method at the single-subject level. Results: FDG-PET voxel-wise metabolic assessment revealed specific metabolic signatures characterizing each PPA variant at the individual level, reflecting the underlying neurodegeneration in language networks. Notably, additional dysfunctional patterns predicted clinical progression to specific dementia conditions. In the case of nfv-PPA, a metabolic pattern characterized by involvement of parietal, subcortical and brainstem structures predicted progression to a corticobasal degeneration syndrome or to progressive supranuclear palsy. lv-PPA and sv-PPA cases who progressed to Alzheimer’s disease and frontotemporal dementia at the follow-up presented with extended bilateral patterns at baseline. Discussion: Our results indicate that FDG-PET voxel-wise imaging is a valid biomarker for the early differential diagnosis of PPAs and for the prediction of progression to specific dementia condition. This study supports the use of FDG-PET imaging quantitative assessment in clinical settings for a better characterization of PPA individuals and prognostic

  15. β-human chorionic gonadotropin assay in vaginal washing fluid for the accurate diagnosis of premature rupture of membranes during late pregnancy

    PubMed Central

    Temel, Orhan; Çöğendez, Ebru; Selçuk, Selçuk; Asoğlu, Mehmet Reşit; Kaya, Erdal

    2013-01-01

    Objective To determine whether the measurement of beta-human chorionic gonadotropin (β-hCG) levels in vaginal fluid is useful for the diagnosis of premature rupture of membranes (PROM). Material and Methods A total of 92 pregnant women between 24 and 40 weeks gestation participated in this study. The patients with fluid leaking from the vagina were designated Group 1, the patients with no fluid leaking from the vagina were Group 2, and those with a suspicion of fluid leaking from the vagina were classified as Group 3. Irrigating the posterior vaginal fornix with 5 mL sterile saline was used to measure β-hCG levels of the patients. Receiver operator curve (ROC) analysis was used to determine the cut-off value for a positive diagnosis. Results The β-hCG levels of vaginal fluid were measured as 20.5±25.0 mIU/mL, 254.6±346.8 mIU/mL, and 74.3±100.8 mIU/mL in Group 1, Group 2, and Group 3, respectively. Vaginal β-hCG level was higher statistically significantly in Group 2 than Group 1 and 3 (p<0.001). 100 mIU/mL was accepted as a cut-off value by using the receiver operating characteristic curve. According to 100 mIU/mL, sensitivity, specificity, positive predictive and negative predictive values were calculated as 71.2, 100, 100, and 65.1%, respectively. Conclusion The study showed that the measurement of β-hCG level in vaginal washing fluid is an efficient and easy diagnostic test for predicting the amount of fluid leaking from the vagina. However, due to the low negative predictive value of the test, it would not be convenient in daily practice. PMID:24592106

  16. Early Diagnosis of Gestational Diabetes Mellitus (EDoGDM) study: a protocol for a prospective, longitudinal cohort study

    PubMed Central

    Liu, Bin; Xu, Yun; Zhang, Ying; Cai, Jian; Deng, Langhui; Yang, Jianbo; Zhou, Yi; Long, Yuhang; Zhang, Jinxin; Wang, Zilian

    2016-01-01

    Introduction A diagnosis of gestational diabetes mellitus (GDM) in low-risk pregnant women is based on an oral glucose tolerance test (OGTT) between 24 and 28 gestational weeks. However, there is insufficient evidence for why the test is performed in this time period. Moreover, the fetus may be exposed to hyperglycaemia prior to the current testing time frame, making earlier administration potentially advantageous. The main purpose of the present study is to investigate the GDM diagnostic value of an OGTT performed at 18–20 gestational weeks. The results of the study may provide scientific insight into the most beneficial time of OGTT for pregnant women. Methods and analysis As a prospective, longitudinal cohort study, the Early Diagnosis of Gestational Diabetes Mellitus (EDoGDM) study will recruit 570 pregnant women who meet the inclusion and exclusion criteria outlined below. OGTTs will be performed between 18 and 20 gestational weeks (early OGTT) and 24–28 gestational weeks (regular OGTT). Clinical and laboratory information of the mother and their offspring will be collected for analysis. The prevalence of GDM at 18–20 gestational weeks will be described, and the sensitivity, specificity, positive predictive value and negative predictive value of early OGTT on diagnosis of GDM will be studied. Clinical outcomes associated with hyperglycaemia will be compared between groups diagnosed by early or regular OGTT. Ethics and dissemination The study was approved by The Ethical Committees of The First Affiliated Hospital of Sun Yat-sen University (number 2016-042). Signed informed consent will be obtained from all participants. The results of this study will be disseminated in peer-reviewed journals. Trial registration number NCT02740283. PMID:27872115

  17. Barriers to early presentation and diagnosis of breast cancer among African women living in sub-Saharan Africa

    PubMed Central

    Akuoko, Cynthia Pomaa; Armah, Ernestina; Sarpong, Theresa; Quansah, Dan Yedu; Amankwaa, Isaac

    2017-01-01

    Background Breast cancer (BC) has been described as the leading cause of cancer deaths among women especially in the developing world including sub Saharan Africa (SSA). Delayed presentation and late diagnosis at health facilities are parts of the contributing factors of high BC mortality in Africa. This review aimed to appraise the contributing factors to delayed breast cancer presentation and diagnosis among SSA women. Methods Five databases encompassing medical and social sciences were systematically searched using predefined search terms linked with breast cancer presentation and diagnosis and sub Saharan Africa. Reference lists of relevant papers were also hand searched. Quality of quantitative and qualitative articles were assessed using the National Institute of Health (NIH) Quality Assessment Tool for Observational Cohort and Cross-Sectional Studies and the Critical Appraisal Skills Programme (CASP) quality appraisal checklist. Thematic analysis was used to synthesize the qualitative studies to integrate findings. Results Fourteen (14) quantitative studies, two (2) qualitative studies and one (1) mixed method study merited inclusion for analysis. This review identified low knowledge of breast cancer among SSA women. This review also found lack of awareness of early detection treatment, poor perception of BC, socio-cultural factors such as belief, traditions and fear as factors impacting African women’s health seeking behavior in relation to breast cancer. Conclusion Improving African women’s knowledge and understanding will improve behaviors related to breast cancer and facilitate early presentation and detection and enhance proper management and treatment of breast cancer. PMID:28192444

  18. Comparison of clinical evaluation and neurosensory testing in the early diagnosis of superimposed entrapment neuropathy in diabetic patients.

    PubMed

    Siemionow, Maria; Zielinski, Maciej; Sari, Alper

    2006-07-01

    Diabetic patients are more susceptible to the development of entrapment neuropathy than nondiabetics. Since these patients suffer from a slowly progressing diabetic polyneuropathy, standard neurosensory and motor tests of nerve function are not sufficient in the diagnosis of superimposed nerve compression. This is most evident in the early stages of compression when quantitative diagnosis is important for making decisions on surgical decompression. We evaluated the validity of computer-assisted pressure-specified sensory device (PSSD) testing in the early detection of superimposed entrapment in diabetic neuropathy in comparison with standard clinical tests. Twenty-five diabetic patients with complaints of peripheral nerve dysfunction were evaluated by clinical tests and PSSD. Out of those, nerve entrapment was detected in 15 patients (60%) (9 in late and 6 in early stage) by neurosensory PSSD testing. Standard clinical tests were confirmative in 33.3% of these cases (44% of late and 16.7% of early stage). Out of 144 evaluated nerves, 50 were diagnosed with entrapment (24 in late and 26 in early stage) using PSSD. Clinically, diagnosis was confirmed in 16% of entrapped nerves (20.8% of late and 11.5% of early stage). Average diabetes duration in patients with entrapment diagnosed using PSSD was significantly shorter than for those diagnosed clinically (4.14 +/- 2.04 vs. 7.2 +/- 1.3, respectively; P = 0.005). Among evaluated factors, mean age and diabetes duration were found to be significantly shorter in patients with entrapment than in those with advanced diffused changes (54.47 +/- 13.07 vs. 67.10 +/- 14.2; P = 0.019 and 5.33 +/- 3.74 vs.14.22 +/- 8.17; P = 0.006; respectively). Our results revealed higher sensitivity of PSSD in comparison with standard clinical tests in the detection of early-stage entrapment in patients with diabetes. To assess accuracy of PSSD in the proper patients' qualification for surgery, further prospective, postoperative studies are

  19. Early diagnosis of neurodegenerative diseases - the long awaited Holy Grail and bottleneck of modern brain research - 19th HUPO BPP workshop: May 22-24, 2013, Dortmund, Germany.

    PubMed

    Schrötter, Andreas; Magraoui, Fouzi El; Gröttrup, Bernd; Wiltfang, Jens; Heinsen, Helmut; Marcus, Katrin; Meyer, Helmut E; Grinberg, Lea T; Park, Young Mok

    2013-10-01

    The HUPO Brain Proteome Project (HUPO BPP) held its 19th workshop in Dortmund, Germany, from May 22 to 24, 2013. The focus of the spring workshop was on strategies and developments concerning early diagnosis of neurodegenerative diseases.

  20. Early postnatal diagnosis of hereditary spherocytosis by combining light microscopy, acidified glycerol lysis test and eosin-5'-maleimide binding assay.

    PubMed

    Andres, Oliver; Eber, Stefan; Speer, Christian P

    2015-12-01

    Exact diagnosis of hereditary spherocytosis (HS) is widely considered unreliable around birth. However, early postnatal diagnosis at the beginning of congenital hemolysis may be essential for managing neonatal anemia and hemolytic icterus, identifying those at high risk for severe hyperbilirubinemia, irreversible kernicterus, or sudden need for red cell transfusion. We analyzed 37 blood samples from neonates or infants up to six weeks of life that had been collected in-house or shipped to our laboratory due to suspected red cell membrane disorder. By combining assessment of red cell morphology, acidified glycerol lysis test (AGLT), and eosin-5'-maleimide (EMA) binding assay, we were able to clearly exclude HS in 22 and confirm HS in 10 patients, of which one had undergone red cell transfusion prior to blood sampling. Assessment of red cell morphology and normal test results allowed diagnosis of infantile pyknocytosis or Heinz body anemia in three neonates. Re-evaluation of five patients with inconsistent results of AGLT and EMA binding led to confirmation of HS in two cases. Automated analysis of hematologic parameters revealed elevated proportion of hyperdense cells to be a highly significant indicator for HS in neonatal infants. We showed that assessment of red cell morphology in combination with AGLT and EMA binding assay is a reliable basis for confirming or rejecting suspected diagnosis of HS even in neonates. Our data underline the necessity for blood sampling and laboratory exploration in suspected red cell membrane or enzyme defects at the earliest occasion.

  1. Combining simple patient-oriented tests with state-of-the-art molecular diagnostics for early diagnosis of cancer.

    PubMed

    Fitzgerald, Rebecca C

    2015-06-01

    Early diagnosis is an important strategy to improve outcomes from cancer. Oesophageal adenocarcinoma is an example of a cancer that presents late, with very poor outcomes, and for which the presence of the precursor lesion Barrett's oesophagus provides the opportunity to intervene at an early stage. In this review, I describe the challenges in the field and the work that we have done to devise a conceptually novel approach to early diagnosis, using a cell collection device (Cytosponge), coupled with molecular assays. This is a personal perspective in which I also describe the career pathway that led me into academic gastroenterology, and the rewards and challenges of translational research in molecular diagnostics. There are fantastic opportunities for clinicians wishing to pursue academic medicine, because it is a time when massive strides are being made in a whole number of areas; for example: imaging, sequencing technology and targeted therapies. Clinicians who can straddle the laboratory and the clinic are essential, to maximise the progress that can be made for the benefit of patients.

  2. Early diagnosis of Exophiala CAPD peritonitis by 18S ribosomal RNA gene sequencing and its clinical significance.

    PubMed

    Lau, Susanna K P; Woo, Patrick C Y; Chiu, Siu-kau; Leung, Kit-wah; Yung, Raymond W H; Yuen, Kwok-yung

    2003-06-01

    Phenotypic identification of fungi in clinical microbiology laboratories is often difficult and late, especially for slow growing and rarely encountered fungi. We describe the application of 18S ribosomal RNA (rRNA) gene sequencing in the early diagnosis of a case of Exophiala peritonitis. A yeast-like fungus was isolated from the dialysate fluid of a 66-year-old man undergoing continuous ambulatory peritoneal dialysis. It grew slowly after 12 days of incubation to yield mature cultures to permit recognition of microscopic features resembling those of Exophiala, a dematiacerous mold. 18S rRNA gene sequencing provided results 12 days earlier than phenotypic identification and revealed 15 base difference (0.9%) between the isolate and Exophiala sp. strain GHP 1205 (GenBank Accession no. AJ232954), indicating that the isolate most closely resembles a strain of Exophiala species. The patient responded to 4 weeks of intravenous amphotericin B therapy. Early identification of the fungus was important for the choice of anti-fungal regimen. As opportunistic fungal infections in immunocompromised patients are globally emerging problems, the development of molecular techniques for fungal identification is crucial for early diagnosis and appropriate treatment.

  3. Community-Based HIV-1 Early Diagnosis and Risk Behavior Analysis of Men Having Sex with Men in Hong Kong

    PubMed Central

    Cheung, Mandy; Lee, Man-Po; Wang, Haibo; Li, Chun-ho; Chan, Chun-Chung; Nishiura, Kenji; Tang, Xian; Tan, Zhiwu; Peng, Jie; Cheung, Ka-Wai; Yam, Wing-Cheong; Chen, Zhiwei

    2015-01-01

    The increasing prevalence of HIV-1 among men having sex with men (MSM) calls for an investigation of HIV-1 prevalence and incidence in MSM by early diagnosis to assist with early preventive interventions in Hong Kong. The participants were recruited randomly from MSM communities within a one-year period. Rapid HIV Test (RHT) and real-time dried blood spot (DBS)-based quantitative polymerase chain reaction (DBS-qPCR) were used for the early diagnosis of 474 participants. Risk behavior analysis was performed by studying information obtained from the participants during the study period. The HIV-1 prevalence and incident rates in the studied MSM population were 4.01% (19/474) and 1.47% (7/474), respectively. Three infected participants were found at the acute phase of infection by DBS-qPCR. Only 46.4% (220/474) MSM were using condoms regularly for anal sex. HIV infection significantly correlated with unprotected receptive anal sex and syphilis infection. An increased number of infections was found among foreign MSM in Hong Kong. This study is the first to use DBS-qPCR to identify acutely infected individuals in a community setting and to provide both the prevalence and incident rates of HIV-1 infection among MSM in Hong Kong. The risk analysis provided evidence that behavior intervention strengthening is necessary to fight against the increasing HIV-1 epidemic among MSM in Hong Kong and surrounding regions in Asia. PMID:25915755

  4. Community-Based HIV-1 Early Diagnosis and Risk Behavior Analysis of Men Having Sex with Men in Hong Kong.

    PubMed

    Liang, Jianguo; Liu, Li; Cheung, Mandy; Lee, Man-Po; Wang, Haibo; Li, Chun-Ho; Chan, Chun-Chung; Nishiura, Kenji; Tang, Xian; Tan, Zhiwu; Peng, Jie; Cheung, Ka-Wai; Yam, Wing-Cheong; Chen, Zhiwei

    2015-01-01

    The increasing prevalence of HIV-1 among men having sex with men (MSM) calls for an investigation of HIV-1 prevalence and incidence in MSM by early diagnosis to assist with early preventive interventions in Hong Kong. The participants were recruited randomly from MSM communities within a one-year period. Rapid HIV Test (RHT) and real-time dried blood spot (DBS)-based quantitative polymerase chain reaction (DBS-qPCR) were used for the early diagnosis of 474 participants. Risk behavior analysis was performed by studying information obtained from the participants during the study period. The HIV-1 prevalence and incident rates in the studied MSM population were 4.01% (19/474) and 1.47% (7/474), respectively. Three infected participants were found at the acute phase of infection by DBS-qPCR. Only 46.4% (220/474) MSM were using condoms regularly for anal sex. HIV infection significantly correlated with unprotected receptive anal sex and syphilis infection. An increased number of infections was found among foreign MSM in Hong Kong. This study is the first to use DBS-qPCR to identify acutely infected individuals in a community setting and to provide both the prevalence and incident rates of HIV-1 infection among MSM in Hong Kong. The risk analysis provided evidence that behavior intervention strengthening is necessary to fight against the increasing HIV-1 epidemic among MSM in Hong Kong and surrounding regions in Asia.

  5. SNP-array based whole genome homozygosity mapping: a quick and powerful tool to achieve an accurate diagnosis in LGMD2 patients.

    PubMed

    Papić, Lea; Fischer, Dirk; Trajanoski, Slave; Höftberger, Romana; Fischer, Carina; Ströbel, Thomas; Schmidt, Wolfgang M; Bittner, Reginald E; Schabhüttl, Maria; Gruber, Karin; Pieber, Thomas R; Janecke, Andreas R; Auer-Grumbach, Michaela

    2011-01-01

    A large number of novel disease genes have been identified by homozygosity mapping and the positional candidate approach. In this study we used single nucleotide polymorphism (SNP) array-based, whole genome homozygosity mapping as the first step to a molecular diagnosis in the highly heterogeneous muscle disease, limb girdle muscular dystrophy (LGMD). In a consanguineous family, both affected siblings showed homozygous blocks on chromosome 15 corresponding to the LGMD2A locus. Direct sequencing of CAPN3, encoding calpain-3, identified a homozygous deletion c.483delG (p.Ile162SerfsX17). In a sporadic LGMD patient complete absence of caveolin-3 on Western blot was observed. However, a mutation in CAV3 could not be detected. Homozygosity mapping revealed a large homozygous block at the LGMD2I locus, and direct sequencing of FKRP encoding fukutin-related-protein detected the common homozygous c.826 C>A (p.Leu276Ile) mutation. Subsequent re-examination of this patient's muscle biopsy showed aberrant α-dystroglycan glycosylation. In summary, we show that whole-genome homozygosity mapping using low cost SNP arrays provides a fast and non-invasive method to identify disease-causing mutations in sporadic patients or sibs from consanguineous families in LGMD2. Furthermore, this is the first study describing that in addition to PTRF, encoding polymerase I and transcript release factor, FKRP mutations may cause secondary caveolin-3 deficiency.

  6. Small bowel volvulus in mid and late pregnancy: can early diagnosis be established to avoid catastrophic outcomes?

    PubMed Central

    Cong, Qing; Li, Xilian; Ye, Xuping; Sun, Li; Jiang, Wei; Han, Zhigang; Lu, Weiqi; Xu, Huan

    2014-01-01

    Volvulus in pregnancy is rare and difficult to diagnose. Delayed diagnosis would result in high maternal and fetal mortality. Here we present an unusual case of small bowel volvulus in late pregnancy timely managed by emergency Cesarean section and derotation with excellent maternal and fetal outcomes. Volvulus should be considered in patients complaining ongoing abdominal pain, nausea, vomiting, constipation even diarrhea. Imaging is essential for early and precise diagnosis, including plain abdominal film, MRI and/or ultrasound. Once highly suspected or diagnosed of volvulus or ileus, emergency laparotomy should be performed immediately to avoid catastrophic outcomes, because the maternal and fetal prognosis is dependent on the interval from volvulus to operation apart from the degree of volvulus. PMID:25550984

  7. Current Trends in Early Hearing Diagnosis and Intervention in North Carolina

    ERIC Educational Resources Information Center

    Pretto, Aneesha Patrice

    2010-01-01

    In North Carolina, the eligibility criteria for enrollment in Part C early intervention services do not exclude infants and toddlers based on the severity or laterality of hearing loss. As such, the state's early intervention population represents a widely diverse array of children ranging from those with minimal to profound hearing losses. While…

  8. Novel biomarkers for early diagnosis of acute kidney injury after cardiac surgery in adults

    PubMed Central

    Kališnik, Jurij Matija

    2016-01-01

    Acute kidney injury after cardiac surgery with cardiopulmonary bypass is a common and serious complication and it is associated with increased morbidity and mortality. Diagnosis of acute kidney injury is based on the serum creatinine levels which rise several hours to days after the initial injury. Thus, novel biomarkers that will enable faster diagnosis are needed in clinical practice. There are numerous urine and serum proteins that indicate kidney injury and are under extensive research. Despite promising basic research results and assembled data, which indicate superiority of some biomarkers to creatinine, we are still awaiting clinical application. PMID:27212976

  9. Early diagnosis of Lemierre's syndrome based on a medical history and physical findings.

    PubMed

    Murata, Yutaka; Wada, Mikio; Kawashima, Atsushi; Kagawa, Keizo

    2013-01-01

    A 37-year-old woman presented with fever and rigor after experiencing respiratory symptoms the previous week that had resolved within a few days. On presentation, her neck was swollen along the right sternocleidomastoid muscle, and chest CT showed pulmonary septic embolisms. Lemierre's syndrome was strongly suspected based on the patient's medical history and physical findings. Further examination revealed venous thrombus, and Fusobacterium necrophorum was later isolated from blood cultures. Antibiotics for anaerobes were administered before a final diagnosis was made, and the patient's symptoms thereafter improved. A rapid diagnosis is essential, since Lemierre's syndrome can be fatal with a diagnostic delay.

  10. [Anencephaly at 20 weeks gestation. What is the optimal gestational age for early diagnosis?].

    PubMed

    Porath, M; Henrich, W; Schmider, A; Dudenhausen, J W

    2002-01-01

    Anencephaly is a lethal defect resulting from a disturbed closure of the neural tube. Prenatal diagnosis during first-trimester-scan is essential but implies pitfalls. Three findings of anencephaly at 20 weeks gestation are reported. Fetuses with anencephaly are correctly identified at 12 to 13 weeks gestation. Anencephaly occurs in absence of the cranial vault. Ultrasound findings can be normal until onset of ossification has definitely failed. A first trimester scan at 12 to 13 weeks allows reliable diagnosis and active management of anencephaly. At this gestational age fetal anatomy can be screened in detail by transvaginal ultrasound and nuchal translucency can be measured.

  11. Simple X-ray versus ultrasonography examination in blunt chest trauma: effective tools of accurate diagnosis and considerations for rib fractures

    PubMed Central

    Hwang, Eun Gu; Lee, Yunjung

    2016-01-01

    Simple radiography is the best diagnostic tool for rib fractures caused by chest trauma, but it has some limitations. Thus, other tools are also being used. The aims of this study were to investigate the effectiveness of ultrasonography (US) for identifying rib fractures and to identify influencing factors of its effectiveness. Between October 2003 and August 2007, 201 patients with blunt chest trauma were available to undergo chest radiographic and US examinations for diagnosis of rib fractures. The two modalities were compared in terms of effectiveness based on simple radiographic readings and US examination results. We also investigated the factors that influenced the effectiveness of US examination. Rib fractures were detected on radiography in 69 patients (34.3%) but not in 132 patients. Rib fractures were diagnosed by using US examination in 160 patients (84.6%). Of the 132 patients who showed no rib fractures on radiography, 92 showed rib fractures on US. Among the 69 patients of rib fracture detected on radiography, 33 had additional rib fractures detected on US. Of the patients, 76 (37.8%) had identical radiographic and US results, and 125 (62.2%) had fractures detected on US that were previously undetected on radiography or additional fractures detected on US. Age, duration until US examination, and fracture location were not significant influencing factors. However, in the group without detected fractures on radiography, US showed a more significant effectiveness than in the group with detected fractures on radiography (P=0.003). US examination could detect unnoticed rib fractures on simple radiography. US examination is especially more effective in the group without detected fractures on radiography. More attention should be paid to patients with chest trauma who have no detected fractures on radiography. PMID:28119889

  12. A Highly Sensitive Porous Silicon (P-Si)-Based Human Kallikrein 2 (hK2) Immunoassay Platform toward Accurate Diagnosis of Prostate Cancer.

    PubMed

    Lee, Sang Wook; Hosokawa, Kazuo; Kim, Soyoun; Jeong, Ok Chan; Lilja, Hans; Laurell, Thomas; Maeda, Mizuo

    2015-05-22

    Levels of total human kallikrein 2 (hK2), a protein involved the pathology of prostate cancer (PCa), could be used as a biomarker to aid in the diagnosis of this disease. In this study, we report on a porous silicon antibody immunoassay platform for the detection of serum levels of total hK2. The surface of porous silicon has a 3-dimensional macro- and nanoporous structure, which offers a large binding capacity for capturing probe molecules. The tailored pore size of the porous silicon also allows efficient immobilization of antibodies by surface adsorption, and does not require chemical immobilization. Monoclonal hK2 capture antibody (6B7) was dispensed onto P-Si chip using a piezoelectric dispenser. In total 13 × 13 arrays (169 spots) were spotted on the chip with its single spot volume of 300 pL. For an optimization of capture antibody condition, we firstly performed an immunoassay of the P-Si microarray under a titration series of hK2 in pure buffer (PBS) at three different antibody densities (75, 100 and 145 µg/mL). The best performance of the microarray platform was seen at 100 µg/mL of the capture antibody concentration (LOD was 100 fg/mL). The platform then was subsequently evaluated for a titration series of serum-spiked hK2 samples. The developed platform utilizes only 15 µL of serum per test and the total assay time is about 3 h, including immobilization of the capture antibody. The detection limit of the hK2 assay was 100 fg/mL in PBS buffer and 1 pg/mL in serum with a dynamic range of 106 (10(-4) to 10(2) ng/mL).

  13. A Highly Sensitive Porous Silicon (P-Si)-Based Human Kallikrein 2 (hK2) Immunoassay Platform toward Accurate Diagnosis of Prostate Cancer

    PubMed Central

    Lee, Sang Wook; Hosokawa, Kazuo; Kim, Soyoun; Jeong, Ok Chan; Lilja, Hans; Laurell, Thomas; Maeda, Mizuo

    2015-01-01

    Levels of total human kallikrein 2 (hK2), a protein involved the pathology of prostate cancer (PCa), could be used as a biomarker to aid in the diagnosis of this disease. In this study, we report on a porous silicon antibody immunoassay platform for the detection of serum levels of total hK2. The surface of porous silicon has a 3-dimensional macro- and nanoporous structure, which offers a large binding capacity for capturing probe molecules. The tailored pore size of the porous silicon also allows efficient immobilization of antibodies by surface adsorption, and does not require chemical immobilization. Monoclonal hK2 capture antibody (6B7) was dispensed onto P-Si chip using a piezoelectric dispenser. In total 13 × 13 arrays (169 spots) were spotted on the chip with its single spot volume of 300 pL. For an optimization of capture antibody condition, we firstly performed an immunoassay of the P-Si microarray under a titration series of hK2 in pure buffer (PBS) at three different antibody densities (75, 100 and 145 µg/mL). The best performance of the microarray platform was seen at 100 µg/mL of the capture antibody concentration (LOD was 100 fg/mL). The platform then was subsequently evaluated for a titration series of serum-spiked hK2 samples. The developed platform utilizes only 15 µL of serum per test and the total assay time is about 3 h, including immobilization of the capture antibody. The detection limit of the hK2 assay was 100 fg/mL in PBS buffer and 1 pg/mL in serum with a dynamic range of 106 (10−4 to 102 ng/mL). PMID:26007739

  14. How to Improve the Early Diagnosis of Trypanosoma cruzi Infection: Relationship between Validated Conventional Diagnosis and Quantitative DNA Amplification in Congenitally Infected Children

    PubMed Central

    Bua, Jacqueline; Volta, Bibiana J.; Perrone, Alina E.; Scollo, Karenina; Velázquez, Elsa B.; Ruiz, Andres M.; De Rissio, Ana M.

    2013-01-01

    Background According to the Chagas congenital transmission guides, the diagnosis of infants, born to Trypanosoma cruzi infected mothers, relies on the detection of parasites by INP micromethod, and/or the persistence of T. cruzi specific antibody titers at 10–12 months of age. Methodology and Principal Findings Parasitemia levels were quantified by PCR in T. cruzi-infected children, grouped according to the results of one-year follow-up diagnosis: A) Neonates that were diagnosed in the first month after delivery by microscopic blood examination (INP micromethod) (n = 19) had a median parasitemia of 1,700 Pe/mL (equivalent amounts of parasite DNA per mL); B) Infants that required a second parasitological diagnosis at six months of age (n = 10) showed a median parasitemia of around 20 Pe/mL and 500 Pe/mL at 1 and 6 months old, respectively, and C) babies with undetectable parasitemia by three blood microscopic observations but diagnosed by specific anti - T. cruzi serology at around 1 year old, (n = 22), exhibited a parasitemia of around 5 Pe/mL, 800 Pe/mL and 20 Pe/mL 1, 6 and 12 month after delivery, respectively. T. cruzi parasites were isolated by hemoculture from 19 congenitally infected children, 18 of which were genotypified as DTU TcV, (former lineage TcIId) and only one as TcI. Significance This report is the first to quantify parasitemia levels in more than 50 children congenitally infected with T. cruzi, at three different diagnostic controls during one-year follow-up after delivery. Our results show that the parasite burden in some children (22 out of 51) is below the detection limit of the INP micromethod. As the current trypanocidal treatment proved to be very effective to cure T. cruzi - infected children, more sensitive parasitological methods should be developed to assure an early T. cruzi congenital diagnosis. PMID:24147166

  15. Recent Advances in the Diagnosis and Treatment of Niemann-Pick Disease Type C in Children: A Guide to Early Diagnosis for the General Pediatrician

    PubMed Central

    Alobaidy, Hanna

    2015-01-01

    Niemann-Pick disease (NP-C) is a lysosomal storage disease in which impaired intracellular lipid transport leads to accumulation of cholesterol and glycosphingolipids in various neurovisceral tissues. It is an autosomal recessive disorder, caused by mutations in the NPC1 or NPC2 genes. The clinical spectrum is grouped by the age of onset and onset of neurological manifestation: pre/perinatal; early infantile; late infantile; and juvenile periods. The NP-C Suspicion Index (SI) screening tool was developed to identify suspected patients with this disease. It is especially good at recognizing the disease in patients older than four years of age. Biochemical tests involving genetic markers and Filipin staining of skin fibroblast are being employed to assist diagnosis. Therapy is mostly supportive and since 2009, the first specific therapy approved for use was Miglustat (Zavesca) aimed at stabilizing the rate of progression of neurological manifestation. The prognosis correlates with age at onset of neurological signs; patients with early onset form progress faster. The NP-C disease has heterogeneous neurovisceral manifestations. A SI is a screening tool that helps in diagnostic process. Filipin staining test is a specific biomarker diagnostic test. Miglustat is the first disease-specific therapy. PMID:25784942

  16. [Congenital muscular dystrophy with laminin-a2 deficiency in early infancy: diagnosis and long-term follow-up].

    PubMed

    Panteliadis, C; Karatza, E; Xinias, I; Flaris, N; Tzitiridou, M; Ramantani, G

    2005-01-01

    Congenital muscular dystrophy (CMD) is a heterogeneous group of neuromuscular disorders characterized by muscle weakness and hypotonia at birth or within the first few months of life. It is inherited in an autosomal recessive pattern. About half of the patients have a deficiency of the alpha-2-chain of laminin (merosin). We describe a case of congenital muscular dystrophy in an infant with laminin-a2-chain deficiency, which appeared hypotonia in early infancy. Diagnosis was made by clinical features and the histological and immunohistochemical studies on muscle biopsy.

  17. The New DSM-5 Impairment Criterion: A Challenge to Early Autism Spectrum Disorder Diagnosis?

    ERIC Educational Resources Information Center

    Zander, Eric; Bölte, Sven

    2015-01-01

    The possible effect of the DSM-5 impairment criterion on diagnosing autism spectrum disorder (ASD) in young children was examined in 127 children aged 20-47 months with a DSM-IV-TR clinical consensus diagnosis of ASD. The composite score of the Vineland Adaptive Behavior Scales (VABS) served as a proxy for the DSM-5 impairment criterion. When…

  18. Cervicobrachialgia and pancoast tumor: value of standard anteroposterior cervical radiographs in early diagnosis.

    PubMed

    Villas, C; Collía, A; Aquerreta, J D; Aristu, J; Torre, W; Díaz De Rada, P; Gocci, S

    2004-10-01

    Ten patients diagnosed with Pancoast tumor were studied retrospectively. The definitive diagnosis was made between 2 and 24 months after the onset of pain. Pain localization was hard to pinpoint; some patients reported pain in four different sites (neck, shoulder, arm, and scapula). Five patients had previously been diagnosed with degenerative, inflammatory, or infectious diseases of the cervical spine or shoulder. In the remaining five patients, the diagnosis was made during the first clinical visit. In three patients, an orthopedic surgeon made the diagnosis by viewing a standard anteroposterior (AP) cervical radiograph. The radiographic evidence arousing suspicion of a Pancoast tumor was the lack of pulmonary air at the top of the affected lung. Furthermore, a parallel study was conducted on 100 consecutive patients seeking treatment for neck pain. By examining the AP radiographs of their cervical spines, the third rib and the top of both lungs were observed in all cases. This study stresses the value of standard AP cervical radiographs in the diagnosis of Pancoast tumor.

  19. Contribution of a Comparative Western Blot Method to Early Postnatal Diagnosis of Congenital Syphilis

    PubMed Central

    Foschi, Claudio; Capretti, Maria Grazia; Nardini, Paola; Compri, Monica; Corvaglia, Luigi Tommaso; Faldella, Giacomo; Cevenini, Roberto

    2016-01-01

    Serology has a pivotal role in the diagnosis of congenital syphilis (CS), but problems arise because of the passive transfer of IgG antibodies across the placenta. The aim of this study was to assess the diagnostic value of a comparative Western blot (WB) method finalized to match the IgG immunological profiles of mothers and their own babies at birth in order to differentiate between passively transmitted maternal antibodies and antibodies synthesized by the infants against Treponema pallidum. Thirty infants born to mothers with unknown or inadequate treatment for syphilis were entered in a retrospective study, conducted at St. Orsola-Malpighi Hospital, Bologna, Italy. All of the infants underwent clinical, instrumental, and laboratory examinations, including IgM WB testing. For the retrospective study, an IgG WB assay was performed by blotting T. pallidum antigens onto nitrocellulose sheets and incubating the strips with serum specimens from mother-child pairs. CS was diagnosed in 11 out of the 30 enrolled infants; 9/11 cases received the definitive diagnosis within the first week of life, whereas the remaining two were diagnosed later because of increasing serological test titers. The use of the comparative IgG WB testing performed with serum samples from mother-child pairs allowed a correct CS diagnosis in 10/11 cases. The CS diagnosis was improved by a strategy combining comparative IgG WB results with IgM WB results, leading to a sensitivity of 100%. The comparative IgG WB test is thus a welcome addition to the conventional laboratory methods used for CS diagnosis, allowing identification and adequate treatment of infected infants and avoiding unnecessary therapy of uninfected newborns. PMID:26961856

  20. Signs for early diagnosis of heart failure in primary health care

    PubMed Central

    Devroey, Dirk; Van Casteren, Viviane

    2011-01-01

    Objective The current guidelines for the diagnosis of heart failure (HF) are based on studies of hospital-based patients. The aim of this study is to describe the symptoms, clinical signs, and diagnostic procedures confirming the diagnosis of HF in primary health care. Materials/subjects and methods Data were prospectively collected during a 2-year period by a nationwide network of sentinel practices. All adult patients without known HF, for which the diagnosis of HF was clinically suspected for the first time, were registered. When diagnosed, HF was confirmed after 1 month. Results 754 patients with a suspicion of HF were recorded. The diagnosis of HF was confirmed for 74% of the patients. The average age of the patients with confirmed HF was 77.7 years, and for those without HF 75.6 years (P = 0.018). From a logistic regression, breathlessness on exercise (P < 0.001), limitations of physical activity (P = 0.003), and orthopnea (P = 0.040) were the symptoms most associated with HF. The clinical signs most associated with HF, were pulmonary rales (P < 0.001), peripheral edema (P < 0.001), and raised jugular venous pressure (P = 0.039). An electrocardiogram was performed in 75% of the cases, blood analyses in 68%, echocardiogram in 63%, chest X-ray in 61%, and determination of natriuretic peptides in 11% of the cases. Conclusion Many clinical signs may occur in patients with HF. However, the occurrence of peripheral edema, breathlessness on exercise, or pulmonary rales, are highly suggestive for HF when diagnosed in primary health care, as is the case in hospital-admitted patients. The diagnosis of HF was often left unconfirmed by an echocardiogram and/or an electrocardiogram. PMID:21966224

  1. Cardiovascular events prior to or early after diagnosis of systemic lupus erythematosus in the systemic lupus international collaborating clinics cohort

    PubMed Central

    Urowitz, M B; Gladman, D D; Anderson, N M; Su, J; Romero-Diaz, J; Bae, S C; Fortin, P R; Sanchez-Guerrero, J; Clarke, A; Bernatsky, S; Gordon, C; Hanly, J G; Wallace, D J; Isenberg, D; Rahman, A; Merrill, J; Ginzler, E; Alarcón, G S; Fessler, B F; Petri, M; Bruce, I N; Khamashta, M; Aranow, C; Dooley, M; Manzi, S; Ramsey-Goldman, R; Sturfelt, G; Nived, O; Steinsson, K; Zoma, A; Ruiz-Irastorza, G; Lim, S; Kalunian, K C; Ỉnanç, M; van Vollenhoven, R; Ramos-Casals, M; Kamen, D L; Jacobsen, S; Peschken, C; Askanase, A; Stoll, T

    2016-01-01

    Objective To describe the frequency of myocardial infarction (MI) prior to the diagnosis of systemic lupus erythematosus (SLE) and within the first 2 years of follow-up. Methods The systemic lupus international collaborating clinics (SLICC) atherosclerosis inception cohort enters patients within 15 months of SLE diagnosis. MIs were reported and attributed on a specialised vascular event form. MIs were confirmed by one or more of the following: abnormal ECG, typical or atypical symptoms with ECG abnormalities and elevated enzymes (≥2 times upper limit of normal), or abnormal stress test, echocardiogram, nuclear scan or angiogram. Descriptive statistics were used. Results 31 of 1848 patients who entered the cohort had an MI. Of those, 23 patients had an MI prior to SLE diagnosis or within the first 2 years of disease. Of the 23 patients studied, 60.9% were female, 78.3% were Caucasian, 8.7% black, 8.7% Hispanic and 4.3% other. The mean age at SLE diagnosis was 52.5±15.0 years. Of the 23 MIs that occurred, 16 MIs occurred at a mean of 6.1±7.0 years prior to diagnosis and 7 occurred within the first 2 years of follow-up. Risk factors associated with early MI in univariate analysis are male sex, Caucasian, older age at diagnosis, hypertension, hypercholesterolaemia, family history of MI and smoking. In multivariate analysis only age (OR=1.06 95% CI 1.03 to 1.09), hypertension (OR=5.01, 95% CI 1.38 to 18.23), hypercholesterolaemia (OR=4.43, 95% CI 1.51 to 12.99) and smoking (OR=7.50, 95% CI 2.38 to 23.57) remained significant risk factors. Conclusions In some patients with lupus, MI may develop even before the diagnosis of SLE or shortly thereafter, suggesting that there may be a link between autoimmune inflammation and atherosclerosis. PMID:27099765

  2. CSF ADA Determination in Early Diagnosis of Tuberculous Meningitis in HIV-Infected Patients.

    PubMed

    Ghosh, Gopal Chandra; Sharma, Brijesh; Gupta, B B

    2016-01-01

    Tuberculous and Cryptococcal meningitis are common in HIV patients. A highly specific and sensitive rapid test for diagnosis of Tuberculous meningitis especially in setting of HIV is not available in developing countries where the burden of disease is high. We measured ADA (adenosine deaminase) levels using spectrophotometric method in the CSF of HIV patients with meningitis to differentiate Tuberculous meningitis from meningitis due to other causes. Kruskal-Wallis test was used to compare ADA values between tuberculous meningitis (TBM) and nontuberculous (non-TB) meningitis patients and a receiver-operating characteristic (ROC) analysis curve was drawn from these values. Levels of ADA in the CSF of patients with TBM were significantly higher than those in patients with meningitis due to other causes. CSF ADA level determination with a cut-off value of 6 IU/L was found to be highly specific and fairly sensitive test for the diagnosis of TBM in HIV positive patients.

  3. [Gallstone ileus as a cause of acute abdomen. Importance of early diagnosis for surgical treatment].

    PubMed

    Martín-Pérez, Jesica; Delgado-Plasencia, Luciano; Bravo-Gutiérrez, Alberto; Burillo-Putze, Guillermo; Martínez-Riera, Antonio; Alarcó-Hernández, Antonio; Medina-Arana y, Vicente

    2013-10-01

    Gallstone ileus is an uncommon type of mechanical intestinal obstruction caused by an intraluminal gallstone, and preoperative diagnosis is difficult in the Emergency department. This study is a retrospective analysis of the clinical presentation of 5 patients with gallstone ileus treated between 2000-2010. Clinical features, diagnostic testing, and surgical treatment were analyzed. Five patients were included: 2 cases showed bowel obstruction; 2 patients presented a recurrent gallstone ileus with prior surgical intervention; and one patient presented acute peritonitis due to perforation of an ileal diverticula. In all cases CT confirmed the preoperative diagnosis. In our experience, gallstone ileus may present with clinical features other than intestinal obstruction. In suspicious cases CT may be useful to decrease diagnostic delay, which is associated with more complications.

  4. Early diagnosis of testicular tumor using Tc-99m pertechnetate scrotal imaging.

    PubMed

    Donoghue, G D; Prezio, J A; Ricci, P E

    1983-12-01

    Two patients who originally presented with clinical symptoms of epididymo-orchitis, with compatible findings on the Tc-99m pertechnetate scrotal images, had temporary remission of their symptoms with antibiotic therapy. After two months, both patients had repeat scrotal images, because of persistent testicular enlargement. Both now demonstrated a "cold spot" in the otherwise increased activity on the affected side. Both patients underwent orchiectomy; patient 1 had a tissue diagnosis of malignant mixed germ cell tumor and patient 2 showed teratocarcinoma.

  5. The application of cerebrospinal fluid biomarkers in early diagnosis of Alzheimer disease.

    PubMed

    Blennow, Kaj; Zetterberg, Henrik

    2013-05-01

    This article gives an updated account of the clinical application of cerebrospinal fluid (CSF) biomarkers for Alzheimer disease (AD). The clinically most relevant biomarkers, total tau, phospho-tau and Aβ42 are discussed, and how they may be used, together with other diagnostic investigations, to make a predementia diagnosis of AD. Recent findings in sporadic and genetic preclinical AD are also discussed and, more specifically, what the biomarkers have taught us on the sequence of events in the pathogenic process underlying AD.

  6. Early Diagnosis of Penetrating Cardiac and Pleural Injury by Extended Focused Assessment with Sonography for Trauma

    PubMed Central

    Singaravelu, K. P.; Saya, Rama Prakasha; Pandit, Vinay R.

    2016-01-01

    In India, stab injury is not uncommon, but identifying potential life threatening conditions in the emergency room (ER) and initiating prompt treatment are challenging. This is a case report of a young patient who presented to the ER with assault injury to the chest and shock; timely extended focused assessment with sonography for trauma helped to fast-track the patient to the operating room. A brief review of diagnosis and management of penetrating cardiac injury is presented herewith.

  7. Breast Cancer: subgroups specific blood-biomarkers for early / predictive diagnosis and personalized treatment — EDRN Public Portal

    Cancer.gov

    Breast-conserving lumpectomy followed by radiation therapy has been shown to be an alternative strategy, competitive to mastectomy, in preventing mortality caused by breast cancer. However, besides negative short-term effects (blood flow disturbances, painful erythema, etc.) breast irradiation causes severe long-term side-effects (leucopenia, anemia, breast edema, fibrosis, increase of angiosarcoma, leukemia, myelodysplastic syndromes). Therefore, the identification of individual susceptibility to radiation and improved patient-specific radiotherapy planning are highly desirable for personalised treatment in breast cancer. Why early and predictive diagnosis is crucial for long-term outcomes of breast cancer? Breast cancer is the most common cause of cancer death among women with an average incidence rate of 10-12 per 100 women. In 2005, breast cancer led to 502,000 deaths worldwide. Advanced stages of breast cancer lead to the development of metastasis predominantly in the lymph nodes, bone, lung, skin, brain, and liver. Although breast-MRI is currently the most sensitive diagnostic tool for breast imaging, its specificity is limited resulting in a negative impact for surgical management in approximately 9 % of cases. Early diagnosis has been demonstrated to be highly beneficial, enabling significantly enhanced therapy efficiency and possibly full recovery.

  8. Clinical practice guideline for the prevention, early detection, diagnosis, management and follow up of type 2 diabetes mellitus in adults.

    PubMed

    Aschner, Pablo M; Muñoz, Oscar Mauricio; Girón, Diana; García, Olga Milena; Fernández-Ávila, Daniel Gerardo; Casas, Luz Ángela; Bohórquez, Luisa Fernanda; Arango T, Clara María; Carvajal, Liliana; Ramírez, Doris Amanda; Sarmiento, Juan Guillermo; Colon, Cristian Alejandro; Correa G, Néstor Fabián; Alarcón R, Pilar; Bustamante S, Álvaro Andrés

    2016-06-30

    In Colombia, diabetes mellitus is a public health program for those responsible for creating and implementing strategies for prevention, diagnosis, treatment, and follow-up that are applicable at all care levels, with the objective of establishing early and sustained control of diabetes. A clinical practice guide has been developed following the broad outline of the methodological guide from the Ministry of Health and Social Welfare, with the aim of systematically gathering scientific evidence and formulating recommendations using the GRADE (Grading of Recommendations Assessment, Development and Evaluation) methodology. The current document presents in summary form the results of this process, including the recommendations and the considerations taken into account in formulating them. In general terms, what is proposed here is a screening process using the Finnish Diabetes Risk Score questionnaire adapted to the Colombian population, which enables early diagnosis of the illness, and an algorithm for determining initial treatment that can be generalized to most patients with diabetes mellitus type 2 and that is simple to apply in a primary care context. In addition, several recommendations have been made to scale up pharmacological treatment in those patients that do not achieve the objectives or fail to maintain them during initial treatment. These recommendations also take into account the evolution of weight and the individualization of glycemic control goals for special populations. Finally, recommendations have been made for opportune detection of micro- and macrovascular complications of diabetes.

  9. Clinical practice guideline for the prevention, early detection, diagnosis, management and follow up of type 2 diabetes mellitus in adults

    PubMed Central

    Muñoz, Oscar Mauricio; Girón, Diana; García, Olga Milena; Fernández-Ávila, Daniel Gerardo; Casas, Luz Ángela; Bohórquez, Luisa Fernanda; Arango T, Clara María; Carvajal, Liliana; Ramírez, Doris Amanda; Sarmiento, Juan Guillermo; Colon, Cristian Alejandro; Correa G, Néstor Fabián; Alarcón R, Pilar; Bustamante S, Álvaro Andrés

    2016-01-01

    In Colombia, diabetes mellitus is a public health program for those responsible for creating and implementing strategies for prevention, diagnosis, treatment, and follow-up that are applicable at all care levels, with the objective of establishing early and sustained control of diabetes. A clinical practice guide has been developed following the broad outline of the methodological guide from the Ministry of Health and Social Welfare, with the aim of systematically gathering scientific evidence and formulating recommendations using the GRADE (Grading of Recommendations Assessment, Development and Evaluation) methodology. The current document presents in summary form the results of this process, including the recommendations and the considerations taken into account in formulating them. In general terms, what is proposed here is a screening process using the Finnish Diabetes Risk Score questionnaire adapted to the Colombian population, which enables early diagnosis of the illness, and an algorithm for determining initial treatment that can be generalized to most patients with diabetes mellitus type 2 and that is simple to apply in a primary care context. In addition, several recommendations have been made to scale up pharmacological treatment in those patients that do not achieve the objectives or fail to maintain them during initial treatment. These recommendations also take into account the evolution of weight and the individualization of glycemic control goals for special populations. Finally, recommendations have been made for opportune detection of micro- and macrovascular complications of diabetes. PMID:27546934

  10. Heterotopic ossification of the knee joint in intensive care unit patients: early diagnosis with magnetic resonance imaging

    PubMed Central

    Argyropoulou, Maria I; Kostandi, Eleonora; Kosta, Paraskevi; Zikou, Anastasia K; Kastani, Dimitra; Galiatsou, Efi; Kitsakos, Athanassios; Nakos, George

    2006-01-01

    Introduction Heterotopic ossification (HO) is the formation of bone in soft tissues. The purpose of the present study was to evaluate the magnetic resonance imaging (MRI) findings on clinical suspicion of HO in the knee joint of patients hospitalised in the intensive care unit (ICU). Methods This was a case series of 11 patients requiring prolonged ventilation in the ICU who had the following diagnoses: head trauma (nine), necrotising pancreatitis (one), and fat embolism (one). On clinical suspicion of HO, x-rays and MRI of the knee joint were performed. Follow-up x-rays and MRI were also performed. Results First x-rays were negative, whereas MRI (20.2 ± 6.6 days after admission) showed joint effusion and in fast spin-echo short time inversion-recovery (STIR) images a 'lacy pattern' of the muscles vastus lateralis and medialis. The innermost part of the vastus medialis exhibited homogeneous high signal. Contrast-enhanced fat-suppressed T1-weighted images also showed a 'lacy pattern.' On follow-up (41.4 ± 6.6 days after admission), STIR and contrast-enhanced T1-weighted images depicted heterogeneous high signal and heterogeneous enhancement, respectively, at the innermost part of the vastus medialis, whereas x-rays revealed a calcified mass in the same position. Overall, positive MRI findings appeared simultaneously with clinical signs (1.4 ± 1.2 days following clinical diagnosis) whereas x-ray diagnosis was evident at 23 ± 4.3 days (p = 0.002). Conclusion MRI of the knee performed on clinical suspicion shows a distinct imaging pattern confirming the diagnosis of HO earlier than other methods. MRI diagnosis may have implications for early intervention in the development of HO. PMID:17074077

  11. Sports and Marfan Syndrome: Awareness and Early Diagnosis Can Prevent Sudden Death.

    ERIC Educational Resources Information Center

    Salim, Mubadda A.; Alpert, Bruce S.

    2001-01-01

    Physicians who work with athletes play an important role in preventing sudden death related to physical activity in people who have Marfan syndrome. Flagging those who have the physical stigmata and listening for certain cardiac auscultation sounds are early diagnostic keys that can help prevent deaths. People with Marfan syndrome should be…

  12. Practice of Breast Cancer Early Diagnosis Methods among Women Living in Samsun, and Factors Associated with This Practice

    PubMed Central

    Aker, Servet; Öz, Hatice; Tunçel, Ebru Kaynar

    2015-01-01

    Objective The purpose of this study was to assess practice of breast cancer early diagnosis methods among women and the factors associated with this practice. Materials and Methods The population of this cross-sectional study consisted of 410,377 women over the age of 20, living within the administrative borders of Samsun province. Stratified systematic sampling was used in the selection of the 800-member sample. The Health Belief Model Scale, a questionnaire consisting of open and closed-ended questions, was used to elicit women’s demographic data and determine their awareness on early diagnostic techniques. The questionnaires were administered face-to-face by visiting individuals’ addresses. Results 80.5% of women had knowledge on breast self-examination (BSE). 12.6% of the women who were aware of BSE stated that they regularly performed BSE. 30.4% of women had clinical breast examination (CBE) by health personnel at least once, while 36.8% of women over 40 years of age obtained mammography at least once. Factors associated with women’s performance of BSE were age, having received education about breast health, perception of severity, barriers for BSE and self-efficacy. Factors affecting CBE included age, presence of history of breast cancer in a relative or friend, having received education about breast health; while factors associated with women’s undergoing mammography were identified as age, a family member with a history of breast cancer and barriers for mammography. Conclusion Determination of the factors associated with practice of breast cancer early diagnosis methods, and implementation of planned training programs based on these results is important in increasing compliance with these methods. PMID:28331705

  13. Significance of Cystatin C for Early Diagnosis of Contrast-Induced Nephropathy in Patients Undergoing Coronary Angiography.

    PubMed

    Wang, Mian; Zhang, Li; Yue, Rongzheng; You, Guiying; Zeng, Rui

    2016-08-22

    BACKGROUND Contrast-induced nephropathy is acute kidney injury caused by contrast medium exposure. Serum creatinine is the clinical diagnostic standard, but it does not yield quick results. The serum level of cystatin C is stable and it can reflect renal function sensitively. The study aimed to assess the usefulness of cystatin C for early diagnosis of contrast-induced nephropathy in patients undergoing coronary angiography. MATERIAL AND METHODS We included 300 patients who underwent CAG. According to the sCr at 48 h, patients were divided into 2 groups: CIN group and non-CIN group. Their demographics and basal renal function were recorded. Changes in sCr, Cys C, and e GFR were compared at the same time. ROC analysis was used to assess the sensitivity and specificity of Cys C in the early diagnosis of CIN. RESULTS Comparison of basal renal function and serum level of Cys C showed no significant differences between the 2 groups. Serum level of Cys C increased significantly at 24 h (p<0.001), and sCr increased significantly at 48 h. ROC analysis showed that the AUC of the change in Cys C between baseline and 24 h was 0.936 (95% CI: 0.879-0.992, p=0.000) and the optimum cut-off level was 0.26 mg/L (sensitivity=89.7% and specificity=95.6%). CONCLUSIONS The concentration change of Cys C is better than sCr as a biomarker in the early detection of CIN.

  14. Tuberculosis diagnosis after bleach processing for early stage tuberculosis laboratory capacity building.

    PubMed

    David, S; Sutre, A F; Sanca, A; Mané, A; Henriques, V; Portugal, C; Sancho, L; Cardoso, A; Paixão, E; Duarte, E L; Leite, C Q F; Salem, J I; Antunes, A

    2012-11-01

    The diagnosis of tuberculosis is seriously hampered in the absence of standard biosafety laboratory facilities for specimen concentration and Mycobacterium tuberculosis culture. Within a laboratory twinning arrangement, heat-fixed direct smear and sediment from 74 bleach-processed and 20 non-processed specimens from Cumura Hospital, Guinea-Bissau, were sent to Lisbon for molecular evaluation of rifampicin resistance. Sequence analysis of a 369 base-pair rpoB locus detected 3.2% (3/94) resistant specimens. To our knowledge, this represents the first report on the molecular analysis of M. tuberculosis from bleach-processed sputum, an alternative to current diagnostic practice in low-resource settings.

  15. Application of nanophotosensitizers (aluminum phthalocyanine nanoparticles) for early diagnosis and prevention of inflammatory diseases

    NASA Astrophysics Data System (ADS)

    Kuznetsova, J. O.; Makarov, V. I.

    2016-08-01

    This paper deals with a possibility of new types of photosensitizers application - Aluminum Phthalocyanine nanoparticles (nAlPc) in clinical practice for diagnosis, prevention and therapy of inflammatory diseases in dentistry and traumatology. It was detected that the aluminum phthalocyanine (AlPc) fluoresces in the nanoparticle form in the presence of pathologic microflora or inflammation process. It will make possible to detect the local accumulation of pathological microflora on the enamel surface and also for diagnostics and treatment of inflammatory diseases. Experimental studies of interaction of NP-AlPc with tooth enamel and with biological joint tissue at arthrosis are presented.

  16. Intermittent chaos and sliding window symbol sequence statistics-based early fault diagnosis for hydraulic pump on hydraulic tube tester

    NASA Astrophysics Data System (ADS)

    Zhao, Zhen; Jia, Mingxing; Wang, Fuli; Wang, Shu

    2009-07-01

    To ensure the safety, continuity of production, make a reasonable maintenance plan, save the cost of maintenance for hydraulic tube tester, it is needed to quickly identify an assignable cause of a fault. This paper is concerned with early fault diagnosis of hydraulic pump which are the heart of hydraulic tube tester. Considering that the signal of the hydraulic pump early fault is a periodic weak signal, an intermittent chaos, sliding window symbol sequence statistics-based method is proposed to detect the early fault of one single piston loose shoes of hydraulic pump on a hydraulic tube tester. The approach presented is based on the insight that the phase transition of chaos oscillator, for example, the Duffing oscillator, is very sensitive to a periodic weak signal having little angular frequency difference with the referential signal of the oscillator. While observing the intermittent chaos phenomenon through figure is not easy for computer, a sliding window symbol sequence statistics is developed to realize real-time computer observation of this phenomenon. Rather more, this paper takes a trick to decreasing the computational complexity of the sliding window symbol sequence statistics method, also analyzes the influences of different window size, depths of the symbol tree on the information entropy. At last, a control limit is introduced to realize automatic early fault alarm. The resultant approach is experimented with data simulated from an AMESim model of hydraulic tube tester. The results indicate that the proposed approach is capable of detecting the signal of hydraulic pump early fault on hydraulic tube tester.

  17. The AIMAR recommendations for early diagnosis of chronic obstructive respiratory disease based on the WHO/GARD model*.

    PubMed

    Nardini, Stefano; Annesi-Maesano, Isabella; Del Donno, Mario; Delucchi, Maurizio; Bettoncelli, Germano; Lamberti, Vincenzo; Patera, Carlo; Polverino, Mario; Russo, Antonio; Santoriello, Carlo; Soverina, Patrizio

    2014-01-01

    Respiratory diseases in Italy already now represent an emergency (they are the 3(rd) ranking cause of death in the world, and the 2(nd) if Lung cancer is included). In countries similar to our own, they result as the principal cause for a visit to the general practitioner (GP) and the second main cause after injury for recourse to Emergency Care. Their frequency is probably higher than estimated (given that respiratory diseases are currently underdiagnosed). The trend is towards a further increase due to epidemiologic and demographic factors (foremost amongst which are the widespread diffusion of cigarette smoking, the increasing mean age of the general population, immigration, and pollution). Within the more general problem of chronic disease care, chronic respiratory diseases (CRDs) constitute one of the four national priorities in that they represent an important burden for society in terms of mortality, invalidity, and direct healthcare costs. The strategy suggested by the World Health Organization (WHO) is an integrated approach consisting of three goals: inform about health, reduce risk exposure, improve patient care. The three goals are translated into practice in the three areas of prevention (1-primary, 2-secondary, 3-tertiary) as: 1) actions of primary (universal) prevention targeted at the general population with the aim to control the causes of disease, and actions of Predictive Medicine - again addressing the general population but aimed at measuring the individual's risk for disease insurgence; 2) actions of early diagnosis targeted at groups or - more precisely - subgroups identified as at risk; 3) continuous improvement and integration of care and rehabilitation support - destined at the greatest possible number of patients, at all stages of disease severity. In Italy, COPD care is generally still inadequate. Existing guidelines, institutional and non-institutional, are inadequately implemented: the international guidelines are not always adaptable

  18. The AIMAR recommendations for early diagnosis of chronic obstructive respiratory disease based on the WHO/GARD model*

    PubMed Central

    2014-01-01

    Respiratory diseases in Italy already now represent an emergency (they are the 3rd ranking cause of death in the world, and the 2nd if Lung cancer is included). In countries similar to our own, they result as the principal cause for a visit to the general practitioner (GP) and the second main cause after injury for recourse to Emergency Care. Their frequency is probably higher than estimated (given that respiratory diseases are currently underdiagnosed). The trend is towards a further increase due to epidemiologic and demographic factors (foremost amongst which are the widespread diffusion of cigarette smoking, the increasing mean age of the general population, immigration, and pollution). Within the more general problem of chronic disease care, chronic respiratory diseases (CRDs) constitute one of the four national priorities in that they represent an important burden for society in terms of mortality, invalidity, and direct healthcare costs. The strategy suggested by the World Health Organization (WHO) is an integrated approach consisting of three goals: inform about health, reduce risk exposure, improve patient care. The three goals are translated into practice in the three areas of prevention (1-primary, 2-secondary, 3-tertiary) as: 1) actions of primary (universal) prevention targeted at the general population with the aim to control the causes of disease, and actions of Predictive Medicine - again addressing the general population but aimed at measuring the individual’s risk for disease insurgence; 2) actions of early diagnosis targeted at groups or - more precisely - subgroups identified as at risk; 3) continuous improvement and integration of care and rehabilitation support - destined at the greatest possible number of patients, at all stages of disease severity. In Italy, COPD care is generally still inadequate. Existing guidelines, institutional and non-institutional, are inadequately implemented: the international guidelines are not always adaptable to

  19. Spinal tuberculosis: diagnosis and management.

    PubMed

    Rasouli, Mohammad R; Mirkoohi, Maryam; Vaccaro, Alexander R; Yarandi, Kourosh Karimi; Rahimi-Movaghar, Vafa

    2012-12-01

    The spinal column is involved in less than 1% of all cases of tuberculosis (TB). Spinal TB is a very dangerous type of skeletal TB as it can be associated with neurologic deficit due to compression of adjacent neural structures and significant spinal deformity. Therefore, early diagnosis and management of spinal TB has special importance in preventing these serious complications. In order to extract current trends in diagnosis and medical or surgical treatment of spinal TB we performed a narrative review with analysis of all the articles available for us which were published between 1990 and 2011. Althoug h the development of more accurate imaging modalities such as magnetic resonance imaging and advanced surgical techniques have made the early diagnosis and management of spinal TB much easier, these are still very challenging topics. In this review we aim to discuss the diagnosis and management of spinal TB based on studies with acceptable design, clearly explained results and justifiable conclusions.

  20. Application of conditionally replicating adenoviruses in tumor early diagnosis technology, gene-radiation therapy and chemotherapy.

    PubMed

    Li, Shun; Ou, Mengting; Wang, Guixue; Tang, Liling

    2016-10-01

    Conditionally replicating adenoviruses (CRAds), or known as replication-selective adenoviruses, were discovered as oncolytic gene vectors several years ago. They have a strong ability of scavenging tumor and lesser toxicity to normal tissue. CRAds not only have a tumor-killing ability but also can combine with gene therapy, radiotherapy, and chemotherapy to induce tumor cell apoptosis. In this paper, we review the structure of CRAds and CRAd vectors and summarize the current application of CRAds in tumor detection as well as in radiotherapy and suicide gene-mediating chemotherapy. We also propose further research strategies that can improve the application value of CRAds, including enhancing tumor destruction effect, further reducing toxic effect, reducing immunogenicity, constructing CRAds that can target tumor stem cells, and trying to use mesenchymal stem cells (MSCs) as the carriers for oncolytic adenoviruses. As their importance to cancer diagnosis, gene-radiation, and chemotherapy, CRAds may play a considerable role in clinical diagnosis and various cancer treatments in the future.

  1. [Early diagnosis importance for a correct surgical treatment of PAES (popliteal artery entrapment syndrome)].

    PubMed

    Catani, M; De Milito, R; Clementi, I; Romagnoli, F; Simonelli, L; Vardas, P N; Manili, G; Capitano, S

    2004-01-01

    Popliteal artery entrapment syndrome (PAES) is an uncommon pathological entity, caused by segmental popliteal artery compression by the surrounding myofascial structures. Clinical symptoms may appear acutely, with temporary ischaemic attacks, or chronically, with concerned calf claudicatio intermittens and for 30% are bilateral. Diagnosis, besides being based on clinical objectivity (acute and deep pain to the struck limb, mainly during active plantar hyperextension) and history-taking (subject-age and lack of atherosclerosis), is based on ultrasonographic (eco-color Doppler of the aortic-iliac-femural-popliteal trunks, tensiometric Doppler), angio-RM, angio-CT scan and dynamic angiographic exams. Treatment, essentially, is surgical by simple freeing of the popliteal artery from surrounding myofascial structures or by autologous vein (saphenous v.) interposition grafting and patching, or bypass without vessel resection. About clinical case reported by the authors, 44-years female with left calf acute pain symptoms, cold skin by the thermo-touch, hypo-paraesthesia with fifth toe cyanosis and walking inability, surgical treatment, because of precox diagnosis, consisted of simple cut of myofibrous shoot starting from medial head of the left gastrocnemious muscle and compressing popliteal artery, with clinical chart complete resolution.

  2. Etiology and early pathogenesis of malignant testicular germ cell tumors: towards possibilities for preinvasive diagnosis

    PubMed Central

    Elzinga-Tinke, Jenny E; Dohle, Gert R; Looijenga, Leendert HJ

    2015-01-01

    Malignant testicular germ cell tumors (TGCT) are the most frequent cancers in Caucasian males (20–40 years) with an 70% increasing incidence the last 20 years, probably due to combined action of (epi)genetic and (micro)environmental factors. It is expected that TGCT have carcinoma in situ (CIS) as their common precursor, originating from an embryonic germ cell blocked in its maturation process. The overall cure rate of TGCT is more than 90%, however, men surviving TGCT can present long-term side effects of systemic cancer treatment. In contrast, men diagnosed and treated for CIS only continue to live without these long-term side effects. Therefore, early detection of CIS has great health benefits, which will require an informative screening method. This review described the etiology and early pathogenesis of TGCT, as well as the possibilities of early detection and future potential of screening men at risk for TGCT. For screening, a well-defined risk profile based on both genetic and environmental risk factors is needed. Since 2009, several genome wide association studies (GWAS) have been published, reporting on single-nucleotide polymorphisms (SNPs) with significant associations in or near the genes KITLG, SPRY4, BAK1, DMRT1, TERT, ATF7IP, HPGDS, MAD1L1, RFWD3, TEX14, and PPM1E, likely to be related to TGCT development. Prenatal, perinatal, and postnatal environmental factors also influence the onset of CIS. A noninvasive early detection method for CIS would be highly beneficial in a clinical setting, for which specific miRNA detection in semen seems to be very promising. Further research is needed to develop a well-defined TGCT risk profile, based on gene-environment interactions, combined with noninvasive detection method for CIS. PMID:25791729

  3. Early Fault Diagnosis of Bearings Using an Improved Spectral Kurtosis by Maximum Correlated Kurtosis Deconvolution

    PubMed Central

    Jia, Feng; Lei, Yaguo; Shan, Hongkai; Lin, Jing

    2015-01-01

    The early fault characteristics of rolling element bearings carried by vibration signals are quite weak because the signals are generally masked by heavy background noise. To extract the weak fault characteristics of bearings from the signals, an improved spectral kurtosis (SK) method is proposed based on maximum correlated kurtosis deconvolution (MCKD). The proposed method combines the ability of MCKD in indicating the periodic fault transients and the ability of SK in locating these transients in the frequency domain. A simulation signal overwhelmed by heavy noise is used to demonstrate the effectiveness of the proposed method. The results show that MCKD is beneficial to clarify the periodic impulse components of the bearing signals, and the method is able to detect the resonant frequency band of the signal and extract its fault characteristic frequency. Through analyzing actual vibration signals collected from wind turbines and hot strip rolling mills, we confirm that by using the proposed method, it is possible to extract fault characteristics and diagnose early faults of rolling element bearings. Based on the comparisons with the SK method, it is verified that the proposed method is more suitable to diagnose early faults of rolling element bearings. PMID:26610501

  4. Early Fault Diagnosis of Bearings Using an Improved Spectral Kurtosis by Maximum Correlated Kurtosis Deconvolution.

    PubMed

    Jia, Feng; Lei, Yaguo; Shan, Hongkai; Lin, Jing

    2015-11-20

    The early fault characteristics of rolling element bearings carried by vibration signals are quite weak because the signals are generally masked by heavy background noise. To extract the weak fault characteristics of bearings from the signals, an improved spectral kurtosis (SK) method is proposed based on maximum correlated kurtosis deconvolution (MCKD). The proposed method combines the ability of MCKD in indicating the periodic fault transients and the ability of SK in locating these transients in the frequency domain. A simulation signal overwhelmed by heavy noise is used to demonstrate the effectiveness of the proposed method. The results show that MCKD is beneficial to clarify the periodic impulse components of the bearing signals, and the method is able to detect the resonant frequency band of the signal and extract its fault characteristic frequency. Through analyzing actual vibration signals collected from wind turbines and hot strip rolling mills, we confirm that by using the proposed method, it is possible to extract fault characteristics and diagnose early faults of rolling element bearings. Based on the comparisons with the SK method, it is verified that the proposed method is more suitable to diagnose early faults of rolling element bearings.

  5. Strategies for improving early detection and diagnosis of neovascular age-related macular degeneration

    PubMed Central

    Keane, Pearse A; de Salvo, Gabriella; Sim, Dawn A; Goverdhan, Srini; Agrawal, Rupesh; Tufail, Adnan

    2015-01-01

    Treatment of the neovascular form of age-related macular degeneration (AMD) has been revolutionized by the introduction of such agents as ranibizumab, bevacizumab, and aflibercept. As a result, the incidence of legal blindness occurring secondary to AMD has fallen dramatically in recent years in many countries. While these agents have undoubtedly been successful in reducing visual impairment and blindness, patients with neovascular AMD typically lose some vision over time, and often lose the ability to read, drive, or perform other important activities of daily living. Efforts are therefore under way to develop strategies that allow for earlier detection and treatment of this disease. In this review, we begin by providing an overview of the rationale for, and the benefits of, early detection and treatment of neovascular AMD. To achieve this, we begin by providing an overview of the pathophysiology and natural history of choroidal neovascularization, before reviewing the evidence from both clinical trials and “real-world” outcome studies. We continue by highlighting an area that is often overlooked: the importance of patient education and awareness for early AMD detection. We conclude the review by reviewing an array of both established and emerging technologies for early detection of choroidal neovascularization, ranging from Amsler chart testing, to hyperacuity testing, to advanced imaging techniques, such as optical coherence tomography. PMID:25733802

  6. MicroRNAs as biomarkers for early breast cancer diagnosis, prognosis and therapy prediction.

    PubMed

    Nassar, Farah J; Nasr, Rihab; Talhouk, Rabih

    2016-12-01

    Breast cancer is a major health problem that affects one in eight women worldwide. As such, detecting breast cancer at an early stage anticipates better disease outcome and prolonged patient survival. Extensive research has shown that microRNA (miRNA) are dysregulated at all stages of breast cancer. miRNA are a class of small noncoding RNA molecules that can modulate gene expression and are easily accessible and quantifiable. This review highlights miRNA as diagnostic, prognostic and therapy predictive biomarkers for early breast cancer with an emphasis on the latter. It also examines the challenges that lie ahead in their use as biomarkers. Noteworthy, this review addresses miRNAs reported in patients with early breast cancer prior to chemotherapy, radiotherapy, surgical procedures or distant metastasis (unless indicated otherwise). In this context, miRNA that are mentioned in this review were significantly modulated using more than one statistical test and/or validated by at least two studies. A standardized protocol for miRNA assessment is proposed starting from sample collection to data analysis that ensures comparative analysis of data and reproducibility of results.

  7. Pattern of Breast Cancer Distribution in Ghana: A Survey to Enhance Early Detection, Diagnosis, and Treatment

    PubMed Central

    Debrah, Samuel

    2016-01-01

    Background. Nearly 70% of women diagnosed with breast cancer in Ghana are in advanced stages of the disease due especially to low awareness, resulting in limited treatment success and high death rate. With limited epidemiological studies on breast cancer in Ghana, the aim of this study is to assess and understand the pattern of breast cancer distribution for enhancing early detection and treatment. Methods. We randomly selected and screened 3000 women for clinical palpable breast lumps and used univariate and bivariate analysis for description and exploration of variables, respectively, in relation to incidence of breast cancer. Results. We diagnosed 23 (0.76%) breast cancer cases out of 194 (6.46%) participants with clinically palpable breast lumps. Seventeen out of these 23 (0.56%) were premenopausal (<46.6 years) with 7 (0.23%) being below 35 years. With an overall breast cancer incidence of 0.76% in this study, our observation that about 30% of these cancer cases were below 35 years may indicate a relative possible shift of cancer burden to women in their early thirties in Ghana, compared to Western countries. Conclusion. These results suggest an age adjustment for breast cancer screening to early twenties for Ghanaian women and the need for a nationwide breast cancer screening to understand completely the pattern of breast cancer distribution in Ghana. PMID:27635263

  8. Eshkol-Wachman movement notation in diagnosis: the early detection of Asperger's syndrome.

    PubMed

    Teitelbaum, Osnat; Benton, Tom; Shah, Prithvi K; Prince, Andrea; Kelly, Joseph L; Teitelbaum, Philip

    2004-08-10

    The diagnostic criteria of Asperger's syndrome (AS), considered a part of the autistic spectrum disorder, are still unclear. A critical marker, which distinguishes AS from autism, is the presence of language. The ability of a child with AS to acquire and use language early results in the fact that AS usually is diagnosed much later than autism. Autism is not usually diagnosed until around the age of 3, whereas AS usually is not diagnosed until the child is 6 or 7 years of age. In the present article, using Eshkol-Wachman movement notation, we present evidence that abnormal movement patterns can be detected in AS in infancy. This finding suggests that AS can be diagnosed very early, independent of the presence of language. As shown earlier by us, almost all of the movement disturbances in autism can be interpreted as infantile reflexes "gone astray"; i.e., some reflexes are not inhibited at the appropriate age in development, whereas others fail to appear when they should. This phenomenon appears to apply to AS as well. Based on preliminary results, a simple test using one such reflex is proposed for the early detection of a subgroup of children with AS or autism.

  9. Biomarkers for early diagnosis of type 2 diabetic nephropathy: a study based on an integrated biomarker system.

    PubMed

    Huang, Min; Liang, Qionglin; Li, Ping; Xia, Jianfei; Wang, Yong; Hu, Ping; Jiang, Zhiting; He, Yongxin; Pang, Liqiong; Han, Lida; Wang, Yiming; Luo, Guoan

    2013-08-01

    Diabetic nephropathy is a devastating disease that affects a growing number of diabetic patients. A complete cure is very hard to achieve once the disease has been diagnosed, therefore the diagnosis of early stages in diabetic nephropathy has become a hot area. Numbers of molecules have been proposed to be potential biomarkers for this purpose. However, some problems still remain, such as discovering effective biomarkers to diagnose the disease before obvious clinical evidence appears. Thus, the main purpose of this study was to find plasma biomarkers for early diagnosis of type 2 diabetic nephropathy stage 1 and stage 2, as well as separating them from diabetes. 182 subjects (Chinese) were recruited for this study, including 50 healthy controls, 33 type 2 diabetic patients and 99 type 2 diabetic nephropathy patients (33 of these were stage 3). Important clinical indicators including proteinuria, serum creatinine, and urea nitrogen were measured and the glomerular filtration rate was estimated to assess kidney function; fasting blood glucose, postprandial blood glucose and glycated hemoglobin were measured to assess the blood glucose control. Key metabolites and genes in plasma samples were identified and determined using -omic and quantitative techniques. The potential biomarkers were then combined and carefully screened to determine the most informative ones for early diagnosis of type 2 diabetic nephropathy. An integrated biomarker system (IBS) incorporating 6 clinical indicators, 40 metabolites and 5 genes was established. Correlation analysis results revealed that most of the potential biomarkers significantly correlated with the 6 clinical indicators. Discriminant analysis results showed that the developed IBS gave the highest total predictive accuracy (98.9%). Significant test and receiver operating characteristic analysis results indicated that inosine had the highest sensitivity (0.889), specificity (1.000), positive predictive rate (1.000) and negative

  10. Insufficient Sensitivity of Hemoglobin A1C (A1C) Determination in Diagnosis or Screening of Early Diabetic States

    PubMed Central

    Fajans, Stefan S.; Herman, William H.; Oral, Elif A.

    2010-01-01

    An International Expert Committee made recommendations for using the hemoglobin A1C (A1C) assay as the preferred method for diagnosis of diabetes in nonpregnant individuals. A concentration of ≥ 6.5% was considered as diagnostic. It is the aim of this study to compare the sensitivity of A1C with that of plasma glucose concentrations in subjects with early diabetes or IGT. We chose two groups of subjects who had A1C of ≤ 6.4%. The first group of 89 subjects had family histories of diabetes (MODY or T2DM) and had OGTT and A1C determinations. They included 36 subjects with diabetes or IGT and 53 with normal OGTT. The second group of 58 subjects was screened for diabetes in our Diabetes Clinic by FPG or 2HPG or OGTT and A1C and similar comparisons were made. Subjects with diabetes or IGT, including those with fasting hyperglycemia, had A1C ranging from 5.0 – 6.4%, mean 5.8%. The subjects with normal OGTT had A1C of 4.2 – 6.3%, mean 5.4% or 5.5% for the two groups. A1C may be in the normal range in subjects with diabetes or IGT, including those with fasting hyperglycemia. Approximately one third of subjects with early diabetes and IGT have A1C <5.7%, the cut-point that ADA recommends as indicating the onset of risk of developing diabetes in the future. The results of our study are similar to those obtained by a large Dutch epidemiological study. If our aim is to recognize early diabetic states to apply effective prophylactic procedures to prevent or delay progression to more severe diabetes, A1C is not sufficiently sensitive or reliable for diagnosis of diabetes or IGT. A combination of A1C and plasma glucose determinations, where necessary, are recommended for diagnosis or screening of diabetes or IGT. PMID:20723948

  11. Diagnostic value of sTREM-1 and procalcitonin levels in the early diagnosis of sepsis

    PubMed Central

    Aksaray, Sebahat; Alagoz, Pinar; Inan, Asuman; Cevan, Simin; Ozgultekin, Asu

    2016-01-01

    OBJECTIVE: Sepsis is still major cause of morbidity and mortality, despite improvements in diagnosis and treatment in modern medicine. Therefore, laboratory examinations that provide correct and rapid results are needed to support the diagnosis. This study was conducted to investigate value of immunological indicators procalcitonin (PCT) and soluble triggering receptor expressed on myeloid cells-1 (sTREM-1) in differential diagnosis of patients with sepsis and systemic inflammatory response syndrome (SIRS), as well as to assess their importance in determining prognosis of patients with sepsis. METHODS: Total of 90 patients, 38 with SIRS and 52 with sepsis, who were between the ages 20 to 92, were included in this prospectively planned study. Blood sample was collected from the patients during hospitalization and again in follow-up visit. Enzyme-linked immunosorbent assay (MyBioSource, Inc., San Diego, CA, USA) was used to measure sTREM-1, and PCT was measured using mini VIDAS B.R.A.H.M.S PCT assay (Biomerieux, S.A., Marcy-l’Étoile, France). In addition, patients were clinically assessed using Acute Physiology and Chronic Health Evaluation (APACHE) II scoring system. RESULTS: On day of intensive care unit admission, sTREM-1 and PCT levels, as well as APACHE II score were significantly higher in sepsis group than SIRS group (p=0.001, p=0.01, p=0.001, respectively). Values of sTREM-1 and APACHE II score were higher in the patients with positive blood cultures than those with negative culture results (p=0.002, p=0.006, respectively). PCT, C-reactive protein, and sTREM-1 levels were significantly higher in nonsurviving group. In differentiation of SIRS from sepsis, sTREM-1 cut-off value ≥133 pg/mL and PCT cut-off value of 1.57 ng/mL yielded sensitivity of 71.1% and 67.33%, and specificity of 73.3% and 65.79%, respectively. CONCLUSION: In patients with suspected sepsis, sTREM-1 and PCT can be used as indicators, in addition to scoring systems such as APACHE II and

  12. Beyond early infant diagnosis: case finding strategies for identification of HIV-infected infants and children

    PubMed Central

    Ahmed, Saeed; Kim, Maria H.; Sugandhi, Nandita; Phelps, B. Ryan; Sabelli, Rachael; Diallo, Mamadou O.; Young, Paul; Duncan, Dana; Kellerman, Scott E.

    2014-01-01

    There are 3.4 million children infected with HIV worldwide, with up to 2.6 million eligible for treatment under current guidelines. However, roughly 70% of infected children are not receiving live-saving HIV care and treatment. Strengthening case finding through improved diagnosis strategies, and actively linking identified HIV-infected children to care and treatment is essential to ensuring that these children benefit from the care and treatment available to them. Without attention or advocacy, the majority of these children will remain undiagnosed and die from complications of HIV. In this article, we summarize the challenges of identifying HIV-infected infants and children, review currently available evidence and guidance, describe promising new strategies for case finding, and make recommendations for future research and interventions to improve identification of HIV-infected infants and children. PMID:24361633

  13. Early vs. Delayed Diagnosis of Severe Combined Immunodeficiency: A Family Perspective Survey

    PubMed Central

    Chan, Alice; Scalchunes, Christopher; Boyle, Marcia; Puck, Jennifer M.

    2010-01-01

    Infants affected with severe combined immunodeficiency (SCID) are susceptible to severe and recurrent infections and do not survive unless provided with immune reconstituting treatments. In the absence of population-based newborn screening, infants with SCID who do not have an affected older relative are ascertained only after they have developed infections. However, only limited data are available from the perspective of patients and families to indicate what proportion of SCID cases might benefit from earlier detection by pre-symptomatic screening, whether adequate treatment facilities are available, and how screening could improve SCID treatment outcomes. A survey of parents of children with SCID evaluated family history, pre- and post-diagnosis events, outcomes, and impact of SCID on families. Affected infants diagnosed with SCID as neonates had better survival, demonstrating the potential benefit of universal newborn screening. PMID:21035402

  14. Early vs. delayed diagnosis of severe combined immunodeficiency: a family perspective survey.

    PubMed

    Chan, Alice; Scalchunes, Christopher; Boyle, Marcia; Puck, Jennifer M

    2011-01-01

    Infants affected with severe combined immunodeficiency (SCID) are susceptible to severe and recurrent infections and do not survive unless provided with immune reconstituting treatments. In the absence of population-based newborn screening, infants with SCID who do not have an affected older relative are ascertained only after they have developed infections. However, only limited data are available from the perspective of patients and families to indicate what proportion of SCID cases might benefit from earlier detection by pre-symptomatic screening, whether adequate treatment facilities are available, and how screening could improve SCID treatment outcomes. A survey of parents of children with SCID evaluated family history, pre- and post-diagnosis events, outcomes, and impact of SCID on families. Affected infants diagnosed with SCID as neonates had better survival, demonstrating the potential benefit of universal newborn screening.

  15. Role of 3D power Doppler sonography in early prenatal diagnosis of Galen vein aneurysm

    PubMed Central

    Ergenoğlu, Mete Ahmet; Yeniel, Ahmet Özgür; Akdemir, Ali; Akercan, Fuat; Karadadaş, Nedim

    2013-01-01

    Vein of Galen aneurysm malformation (VGAM) is a rare congenital vascular anomaly. Although the cause of VGAM remains to be elucidated, the current hypothesis is persistence of the embryonic vascular supply, which leads to progressive enlargement and formation of the aneurysmal component of a typical VGAM. Here, we present a 36-year-old woman at 23 weeks’ gestation (gravida 3, para 2) who was evaluated using 3D power Doppler sonography for the prenatal diagnosis of a vein of Galen aneurysm. Investigation using 3D power Doppler sonography allowed for a non-invasive yet diffuse and detailed prenatal assessment of VGAM. Thus, we suggest that prenatal sonography with 3D power Doppler may be an option in cases of VGAM. PMID:24592100

  16. Self-disembowelment during delirium tremens: why early diagnosis is vital.

    PubMed

    Thomasson, Rachel; Craig, Vanessa; Guthrie, Elspeth

    2016-10-24

    Delirium tremens is a serious yet treatable complication of alcohol withdrawal. Timely diagnosis is critical as there are well-established treatment regimens that provide symptomatic relief within hours to days. We report the case of a 34-year-old man with an undisclosed history of alcohol dependency. He presented with paranoid beliefs and was transferred to a psychiatric inpatient unit with suspected schizophrenia. Classic features of delirium tremens such as sympathetic overdrive and visual hallucinations were not salient features of his presentation. Within 24 hours of admission, he sustained major self-inflicted abdominal stab wounds and extracted a metre of small bowel as a result of command hallucinations. The possibility of delirium tremens was raised by the receiving trauma team and he responded rapidly to benzodiazepines. Emergency jejunal reanastomosis was successful. This case highlights the fact that delirium tremens may present atypically and that associated command hallucinations can confer grave risks.

  17. Assessment of Aurora a Kinase Expression in Breast Cancer: A Tool for Early Diagnosis?

    PubMed Central

    Ferchichi, Imen; Sassi Hannachi, Samia; Baccar, Amal; Marrakchi Triki, Raja; Cremet, Jean Yves; Ben Romdhane, Khaled; Prigent, Claude; Ben Ammar El Gaaied, Amel

    2013-01-01

    Aurora A kinase is overexpressed in many cancers but the status of this protein in the breast cancer often varies. We investigate the expression and localization of Aurora A protein in relation with tumor emergence and progression in breast cancer. Aurora A kinase status was evaluated in 107 patients using immunohistochemistry. The experimental findings showed that high expression of the Aurora A protein was correlated with elevated nuclear grade, low expression of progesterone receptor and positive nodal status. The experimental results showed also that the localization of this kinase shifts from cytoplasm in non malignant adjacent tissue to both cytoplasmic and nuclear compartments in tumoral tissue, suggesting an oncogenic role of the nuclear accumulation. We have, furthermore, detected the overexpression of this protein in non malignant adjacent tissue. The expression of the Aurora A kinase in non malignant tissue may represent an earlier diagnosis tool for breast cancer. PMID:23324574

  18. Leprosy type-I reaction episode mimicking facial cellulitis-the importance of early diagnosis*

    PubMed Central

    Fernandes, Tania Rita Moreno de Oliveira; Brandão, Graziele Áquila de Souza; Souza, Bruno de Castro e

    2015-01-01

    Leprosy is aneasily recognizable disease due to its dermato-neurological manifestations. It must be present in the physician’s diagnostic repertoire, especially for those working in endemic areas. However, leprosy reaction is not always easily recognized by non-dermatologists, becoming one of the major problems in the management of patients with leprosy, as it presents clinical complications characterized by inflammatory process, accompanied by pain, malaise and sometimes the establishment or worsening of the patient’s disabilities. We report the case of a patient with type-1 periorbital reaction admitted to the hospital, diagnosed and treated as facial cellulitis, whose late diagnosis may have contributed to the appearance or worsening of facial neuritis. PMID:26312679

  19. Early diagnosis of NAFLD-NASH transition using mid infrared spectroscopy.

    PubMed

    Bensaid, Siouar; Kachenoura, Amar; Costet, Nathalie; De Ledinghen, Victor; Vergniol, Julien; Laine, Fabrice; Turlin, Bruno; Tariel, Hugues; Senhadji, Lotfi

    2016-08-01

    Non-alcoholic fatty liver disease (NAFLD) is defined as an excessive accumulation of fat in the liver in the absence of excessive drinking of alcohol. Initially considered as benign and self-limited, NAFLD may progress to the malignant stage of non-alcoholic steatohepatitis (NASH) characterized by degenerate hepatocellular ballooning and lobular inflammation. NASH can lead to hepatic fibrosis and ultimately to cirrhosis and hepatocellular carcinoma. Unfortunately, the transition from NAFLD to NASH is difficult to detect so far. In this paper, we propose to evaluate the characterization of NASH using mid infrared fiber evanescent wave spectroscopy on blood serum. We used an heuristic variable selection method and a generalized linear model to classify NAFLD and NASH spectra. The obtained results proved that this technique is a promising non-invasive and simple diagnosis tool for NASH.

  20. The role of sensory modulation deficits and behavioral symptoms in a diagnosis for early childhood.

    PubMed

    Pérez-Robles, Ruth; Doval, Eduardo; Jané, Ma Claustre; Caldeira da Silva, Pedro; Papoila, Ana Luisa; Virella, Daniel

    2013-06-01

    To contribute to the validation of the sensory and behavioral criteria for Regulation Disorders of Sensory Processing (RDSP) (DC:0-3R, 2005), this study examined a sample of toddlers in a clinical setting to analyze: (1) the severity of sensory modulation deficits and the behavioral symptoms of RDSP; (2) the associations between sensory and behavioral symptoms; and (3) the specific role of sensory modulation deficits in an RDSP diagnosis. Based on clinical observations, 78 toddlers were classified into two groups: toddlers with RDSP (N = 18) and those with "other diagnoses in Axis I/II of the DC:0-3R" (OD3R; N = 60). The parents completed the Infant Toddler Sensory Profile and the Achenbach Checklist. The results revealed that the RDSP group had more severe sensory modulation deficits and specific behavioral symptoms; stronger, although not significant, associations between most sensory and behavioral symptoms; and a significant sensory modulation deficit effect. These findings support the validity of RDSP.

  1. Early diagnosis of salt-losing congenital adrenal hyperplasia in a newborn boy.

    PubMed Central

    Hughes, I. A.; Winter, J. S.

    1977-01-01

    Assays of serum 17-hydroxyprogesterone concentration may be relied upon to establish a diagnosis of congenital adrenal hyperplasia within a few hours of birth. In a male infant the concentration of 17-hydroxyprogesterone was increased in cord serum and remained elevated until glucocorticoid therapy was started on the 5th day of life. Plasma renin activity was increased only slightly in the first few days, but a striking increase on day 5, along with a gradual increase in the serum potassium concentration, confirmed that the infant had the salt-losing form of congenital adrenal hyperplasia. It was not possible to demonstrate an increased concentration of 17-hydroxyprogesterone, in amniotic fluid obtained at 30 weeks' gestation, presumably because of interference in this assay by cross-reacting steroids. Studies of the mother's serum concentration of 17-hydroxyprogesterone and cortisol during delivery did not disclose any deviation from normal. PMID:890632

  2. Early diagnosis of in utero and intrapartum HIV infection in infants prior to 6 weeks of age.

    PubMed

    Lilian, Rivka R; Kalk, Emma; Bhowan, Kapila; Berrie, Leigh; Carmona, Sergio; Technau, Karl; Sherman, Gayle G

    2012-07-01

    Early initiation of antiretroviral therapy reduces HIV-related infant mortality. The early peak of pediatric HIV-related deaths in South Africa occurs at 3 months of age, coinciding with the earliest age at which treatment is initiated following PCR testing at 6 weeks of age. Earlier diagnosis is necessary to reduce infant mortality. The performances of the Amplicor DNA PCR, COBAS AmpliPrep/COBAS TaqMan (CAP/CTM), and Aptima assays for detecting early HIV infection (acquired in utero and intrapartum) up to 6 weeks of age were compared. Dried blood spots (DBS) were collected at birth and at 2, 4, and 6 weeks from HIV-exposed infants enrolled in an observational cohort study in Johannesburg, South Africa. HIV status was determined at 6 weeks by DNA PCR on whole blood. Serial DBS samples from all HIV-infected infants and two HIV-uninfected, age-matched controls were tested with the 3 assays. Of 710 infants of known HIV status, 38 (5.4%) had in utero (n = 29) or intrapartum (n = 9) infections. By 14 weeks, when treatment should have been initiated, 13 (45%) in utero-infected and 2 (22%) intrapartum-infected infants had died or were lost to follow-up. The CAP/CTM and Aptima assays identified 76.3% of all infants with early HIV infections at birth and by 4 weeks were 96% sensitive. DNA PCR demonstrated lower sensitivities at birth and 4 weeks of 68.4% and 87.5%, respectively. All assays had the lowest sensitivity at 2 weeks of age. CAP/CTM was the only assay with 100% specificity at all ages. Testing at birth versus 6 weeks of age identifies a higher total number of HIV-infected infants, irrespective of the assay.

  3. Effects on outpatient and emergency mental health care of strict Medicaid early periodic screening, diagnosis, and treatment enforcement.

    PubMed

    Snowden, Lonnie R; Masland, Mary C; Wallace, Neal T; Evans-Cuellar, Allison

    2007-11-01

    We investigated enforcement of mental health benefits provided by California Medicaid's Early Periodic Screening, Diagnosis, and Treatment (EPSDT) program. Enforcement, compelled by a consumer-driven lawsuit, resulted in an almost 4-fold funding increase over a 5-year period. We evaluated the impact of enforcement on outpatient treatment intensity (number of visits per child) and rates of emergency care treatment. Using fixed-effects regression, we examined the number of outpatient mental health visits per client and the percentage of all clients using crisis care across 53 autonomous California county mental health plans over 32 three-month periods (quarters; emergency crisis care rates) and 36 quarters (out-patient mental health visits). Enforcement of EPSDT benefits in accordance with federal law produced favorable changes in patterns of mental health service use, consistent with policy aims.

  4. Fanconi Syndrome Secondary to Deferasirox in Diamond-Blackfan Anemia: Case Series and Recommendations for Early Diagnosis.

    PubMed

    Papneja, Koyelle; Bhatt, Mihir D; Kirby-Allen, Melanie; Arora, Steven; Wiernikowski, John T; Athale, Uma H

    2016-08-01

    Deferasirox is an oral iron chelator used to treat patients with transfusion-related iron overload. We report, from two institutions, two children with Diamond-Blackfan anemia who developed Fanconi syndrome secondary to deferasirox administration, along with a review of the literature. The current recommendation for the laboratory monitoring of patients receiving deferasirox does not include serum electrolytes or urine analysis. Thus, despite routine clinic visits and bloodwork, these two patients presented with life-threatening electrolyte abnormalities requiring hospitalization. Hence, we propose the inclusion of serum electrolytes and urine analysis as part of routine monitoring to facilitate the early diagnosis of Fanconi syndrome in the context of high doses of deferasirox therapy.

  5. Preclinical diagnosis of American visceral leishmaniasis during early onset of human Leishmania (L.) infantum chagasi-infection.

    PubMed

    do Rêgo Lima, Luciana Vieira; Santos Ramos, Patrícia Karla; Campos, Marliane Batista; dos Santos, Thiago Vasconcelos; de Castro Gomes, Claudia Maria; Laurenti, Márcia Dalastra; Corbett, Carlos Eduardo Pereira; Silveira, Fernando Tobias

    2014-12-01

    American visceral leishmaniasis (AVL) is an infectious disease, often with long-duration evolution, caused by Leishmania (L.) infantum chagasi. However, although the disease is considered the major clinical manifestation of the link between L. (L.) i. chagasi and the human immune response, we have recently identified five clinical-immunological profiles of infection in the Brazilian Amazon: three asymptomatic (Asymptomatic Infection--AI, Sub-clinical Resistant Infection--SRI, and Indeterminate Initial Infection--III), and two symptomatic ones [Symptomatic Infection--SI (=AVL) and Sub-clinical Oligosymptomatic Infection--SOI]. We confirm here the preclinical diagnosis of AVL through the IgM-antibody response in a case of an early infection (profile III) that evolved to the full disease after 6 weeks.

  6. Pregnancy-associated glycoprotein (PAG) concentration in plasma and milk samples for early pregnancy diagnosis in Lacaune dairy sheep.

    PubMed

    El Amiri, B; Sousa, N M; Alvarez Oxiley, A; Hadarbach, D; Beckers, J F

    2015-04-01

    In the present study, four RIA systems (RIA-1 to -4) based on two antisera raised against ovine pregnancy-associated glycoproteins (ovPAGs), combined with an ovine or a bovine PAG tracer were used to measure PAG concentrations in plasma and milk samples of dairy ewes. Blood and milk samples were collected on different days of gestation: 0, 18, 20, 22, 25, 28, 32, 42, and 49. From day 20 onward, the PAG in plasma could be detected in all pregnant ewes using the four RIA systems. By using milk, except for RIA-1, the other systems showed a sensitivity of 100% from day 28 of gestation onward. In plasma, PAG concentrations were higher in multiple than in single pregnancies, while no clear relationship was observed in milk. In conclusion, milk is a good alternative to plasma for early pregnancy diagnosis in sheep from day 28 to day 42.

  7. Effect of early or late resynchronization based on different methods of pregnancy diagnosis on reproductive performance of dairy cows.

    PubMed

    Sinedino, L D P; Lima, F S; Bisinotto, R S; Cerri, R L A; Santos, J E P

    2014-01-01

    The aim of this study was to compare the reproductive performance of dairy cows subjected to early (ER) or late (LR) resynchronization programs after nonpregnancy diagnoses based on either pregnancy-associated glycoproteins (PAG) ELISA or transrectal palpation, respectively. In addition, the accuracy of the PAG ELISA for early pregnancy diagnosis was assessed. Lactating Holstein cows were subjected to a Presynch-Ovsynch protocol with timed artificial insemination (AI) performed between 61 and 74 DIM. On the day of the first postpartum AI, 1,093 cows were blocked by parity and assigned randomly to treatments; however, because of attrition, 452 ER and 520 LR cows were considered for the statistical analyses. After the first postpartum AI, cows were observed daily for signs of estrus and inseminated on the same day of detected estrus. Cows from ER that were not reinseminated in estrus received the first GnRH injection of the Ovsynch protocol for resynchronization 2d before pregnancy diagnosis. On d 28 after the previous AI (d 27 to 34), pregnancy status was determined by PAG ELISA, and nonpregnant cows continued on the Ovsynch protocol for reinsemination. Pregnant cows had pregnancy status reconfirmed on d 46 after AI (d 35 to 52) by transrectal palpation, and those that lost the pregnancies were resynchronized. Cows assigned to LR had pregnancy diagnosed by transrectal palpation on d 46 after AI (d 35 to 52) and nonpregnant cows were resynchronized with the Ovsynch protocol. Blood was sampled on d 28 after AI (d 27 to 34) from cows in both treatments that had not been reinseminated on estrus and again on d 46 after AI (d 35 to 52) for assessment of PAG ELISA to determine the accuracy of the test. Cows were subjected to treatments for 72d after the first insemination. Pregnancy per AI (P/AI) at first postpartum timed AI did not differ between treatments and averaged 28.9%. The proportion of nonpregnant cows that were resynchronized and received timed AI was greater

  8. Pulmonary Tumor Thrombotic Microangiopathy Caused by a Parotid Tumor: Early Antemortem Diagnosis and Long-term Survival

    PubMed Central

    Toyonaga, Haruka; Tsuchiya, Michiko; Sakaguchi, Chikara; Ajimizu, Hitomi; Nakanishi, Yosuke; Nishiyama, Seiya; Morikawa, Noboru; Hayashi, Yasuyuki; Nagasaka, Yukio; Yasui, Hiroshi

    2017-01-01

    Pulmonary tumor thrombotic microangiopathy (PTTM) is a high-mortality disease that is difficult to diagnose clinically. Our patient was an 80-year-old woman who came to us due to symptoms of increasing dyspnea. A clinical evaluation showed that she had hypoxemia and pulmonary arterial hypertension without any abnormalities in the major pulmonary arteries, bronchi, or alveoli. A lung perfusion scan showed multiple wedge-shaped perfusion defects. Further examination revealed adenocarcinoma in her right parotid gland with metastasis to the submandibular lymph nodes. We diagnosed her to have PTTM caused by a parotid tumor. The patient survived for 11 months with chemotherapy. An early antemortem diagnosis by minimally invasive examinations will help PTTM patients to survive longer. PMID:28050002

  9. [Abdominal sonography in hereditary angioneurotic edema. A contribution to the early diagnosis of a disease of interdisciplinary significance].

    PubMed

    Burghardt, W; Wernze, H

    1987-12-01

    Hereditary angioneurotic oedema is a rare complement-related disorder (C1-esterase-inhibitor deficiency) characterised by recurrent episodic swelling of the limbs, face, gastrointestinal tract, or airways. The mortality rate of the unrecognised disorder is 30 per cent, mainly due to airway obstruction. Two female patients (aged 29 and 61 years) with proven disease were studied by ultrasonography while they suffered from acute abdominal pain: Ultrasound imaging showed a diffuse oedematous but compressible gut wall with reduced bowel motility, distended bowel loops with intraluminal fluid accumulation and free fluid in the peritoneal cavity. The ultrasonographic feature was different from that of other gastrointestinal diseases. In combination with the patient's history, the clinical pattern and the normal routine laboratory findings, abdominal ultrasonography is a suitable tool for early diagnosis of a potentially life-threatening disorder.

  10. Myocardial infarction in women: promoting symptom recognition, early diagnosis, and risk assessment.

    PubMed

    Zbierajewski-Eischeid, Samantha J; Loeb, Susan J

    2009-01-01

    Even with national campaigns to help increase awareness, most people do not realize that heart disease is now the leading cause of death for women. Women experiencing an acute cardiac event often do not recognize the symptoms or are misdiagnosed by healthcare providers because of atypical symptom presentation. This can lead to a significant delay in treatment and a less desirable recovery outcome. To help promote early identification of cardiac risk and cardiac events, this article highlights the range of symptom presentation in women with myocardial infarction and focuses on how advanced clinical nurses can increase nurses' and the public's understanding of this disease in women.

  11. The early-stage diagnosis of albinic embryos by applying optical coherence tomography

    NASA Astrophysics Data System (ADS)

    Yang, Bor-Wen; Wang, Shih-Yuan; Wang, Yu-Yen; Cai, Jyun-Jhang; Chang, Chung-Hao

    2013-09-01

    Albinism is a kind of congenital disease of abnormal metabolism. Poecilia reticulata (guppy fish) is chosen as the model to study the development of albinic embryos as it is albinic, ovoviviparous and with short life period. This study proposed an imaging method for penetrative embryo investigation using optical coherence tomography. By imaging through guppy mother’s reproduction purse, we found the embryo’s eyes were the early-developed albinism features. As human’s ocular albinism typically appear at about four weeks old, it is the time to determine if an embryo will grow into an albino.

  12. Early and rapid diagnosis of acute haemorrhagic conjunctivitis with tear specimens

    PubMed Central

    Yin-Murphy, M.; Rahim, N. Abdul; Phoon, M. C.; Baharuddin-Ishak; Howe, J.

    1985-01-01

    Picornavirus particles and serotype-specific neutralizing antibody were demonstrated in tears collected during early onset of acute haemorrhagic conjunctivitis. Virus particles deposited from tears by airfuge ultracentrifugation and stained with potassium phosphotungstate were easily recognized by electron microscopy. Tear neutralizing antibody in the ultracentrifuged supernatant was detected by the neutralization test in monolayer HeLa cells grown in microtitration plates. The presence of virus particles and specific neutralizing antibody in tear specimens correlated with the serological findings. ImagesFig. 1 PMID:3878740

  13. Metallomic Profiling and Linkage Map Analysis of Early Parkinson's Disease: A New Insight to Aluminum Marker for the Possible Diagnosis

    PubMed Central

    Ahmed, Shiek S. S. J.; Santosh, Winkins

    2010-01-01

    Background Parkinson's disease (PD) is the most common neurodegenerative disorder. The diagnosis of PD is challenging and currently none of the biochemical tests have proven to help in diagnosis. Serum metallomic analysis may suggest the possibility of diagnosis of PD. Methodology/Results The metallomic analysis was targeted on 31 elements obtained from 42 healthy controls and 45 drug naive PD patients using ICP-AES and ICP-MS to determine the concentration variations of elements between PD and normal. The targeted metallomic analysis showed the significant variations in 19 elements of patients compared to healthy control (p<0.04). The partial least squares discriminant analysis (PLS-DA) showed aluminium, copper, iron, manganese and zinc are the key elements, contributes the separation of PD patients from control samples. The correlation coefficient analysis and element-element ratio confirm the imbalance of inter-elements relationship in PD patients' serum. Furthermore, elements linkage map analysis showed aluminium is a key element involved in triggering of phosphorus, which subsequently lead to imbalance of homeostatic in PD serum. The execution of neural network using elements concentrations provides 95% accuracy in detection of disease. Conclusions/Significance These results suggest that there is a disturbance in the elements homeostasis and inter-elements relationship in PD patients' serum. The analysis of serum elements helps in linking the underlying cellular processes such as oxidative stress, neuronal dysfunction and apoptosis, which are the dominating factors in PD. Also, these results increase the prospect of detection of early PD from serum through neural network algorithm. PMID:20582167

  14. Improving early diagnosis of pulmonary infections in patients with febrile neutropenia using low-dose chest computed tomography

    PubMed Central

    Pompe, E.; van der Bruggen, T.; van Rhenen, A.; Lammers, J. W. J.; Wessels, F.; Sprengers, R. W.; de Jong, P. A.; Minnema, M. C.

    2017-01-01

    We performed a prospective study in patients with chemotherapy induced febrile neutropenia to investigate the diagnostic value of low-dose computed tomography compared to standard chest radiography. The aim was to compare both modalities for detection of pulmonary infections and to explore performance of low-dose computed tomography for early detection of invasive fungal disease. The low-dose computed tomography remained blinded during the study. A consensus diagnosis of the fever episode made by an expert panel was used as reference standard. We included 67 consecutive patients on the first day of febrile neutropenia. According to the consensus diagnosis 11 patients (16.4%) had pulmonary infections. Sensitivity, specificity, positive predictive value and negative predictive value were 36%, 93%, 50% and 88% for radiography, and 73%, 91%, 62% and 94% for low-dose computed tomography, respectively. An uncorrected McNemar showed no statistical difference (p = 0.197). Mean radiation dose for low-dose computed tomography was 0.24 mSv. Four out of 5 included patients diagnosed with invasive fungal disease had radiographic abnormalities suspect for invasive fungal disease on the low-dose computed tomography scan made on day 1 of fever, compared to none of the chest radiographs. We conclude that chest radiography has little value in the initial assessment of febrile neutropenia on day 1 for detection of pulmonary abnormalities. Low-dose computed tomography improves detection of pulmonary infiltrates and seems capable of detecting invasive fungal disease at a very early stage with a low radiation dose. PMID:28235014

  15. Implementation and Operational Research: Expedited Results Delivery Systems Using GPRS Technology Significantly Reduce Early Infant Diagnosis Test Turnaround Times.

    PubMed

    Deo, Sarang; Crea, Lindy; Quevedo, Jorge; Lehe, Jonathan; Vojnov, Lara; Peter, Trevor; Jani, Ilesh

    2015-09-01

    The objective of this study was to quantify the impact of a new technology to communicate the results of an infant HIV diagnostic test on test turnaround time and to quantify the association between late delivery of test results and patient loss to follow-up. We used data collected during a pilot implementation of Global Package Radio Service (GPRS) printers for communicating results in the early infant diagnosis program in Mozambique from 2008 through 2010. Our dataset comprised 1757 patient records, of which 767 were from before implementation and 990 from after implementation of expedited results delivery system. We used multivariate logistic regression model to determine the association between late result delivery (more than 30 days between sample collection and result delivery to the health facility) and the probability of result collection by the infant's caregiver. We used a sample selection model to determine the association between late result delivery to the facility and further delay in collection of results by the caregiver. The mean test turnaround time reduced from 68.13 to 41.05 days post-expedited results delivery system. Caregivers collected only 665 (37.8%) of the 1757 results. After controlling for confounders, the late delivery of results was associated with a reduction of approximately 18% (0.44 vs. 0.36; P < 0.01) in the probability of results collected by the caregivers (odds ratio = 0.67, P < 0.05). Late delivery of results was also associated with a further average increase in 20.91 days of delay in collection of results (P < 0.01). Early infant diagnosis program managers should further evaluate the cost-effectiveness of operational interventions (eg, GPRS printers) that reduce delays.

  16. Effect of health belief model and health promotion model on breast cancer early diagnosis behavior: a systematic review.

    PubMed

    Ersin, Fatma; Bahar, Zuhal

    2011-01-01

    Breast cancer is an important public health problem on the grounds that it is frequently seen and it is a fatal disease. The objective of this systematic analysis is to indicate the effects of interventions performed by nurses by using the Health Belief Model (HBM) and Health Promotion Model (HPM) on the breast cancer early diagnosis behaviors and on the components of the Health Belief Model and Health Promotion Model. The reveiw was created in line with the Centre for Reviews and Dissemination guide dated 2009 (CRD) and developed by York University National Institute of Health Researches. Review was conducted by using PUBMED, OVID, EBSCO and COCHRANE databases. Six hundred seventy eight studies (PUBMED: 236, OVID: 162, EBSCO: 175, COCHRANE:105) were found in total at the end of the review. Abstracts and full texts of these six hundred seventy eight studies were evaluated in terms of inclusion and exclusion criteria and 9 studies were determined to meet the criteria. Samplings of the studies varied between ninety four and one thousand six hundred fifty five. It was detected in the studies that educations provided by taking the theories as basis became effective on the breast cancer early diagnosis behaviors. When the literature is examined, it is observed that the experimental researches which compare the concepts of Health Belief Model (HBM) and Health Promotion Model (HPM) preoperatively and postoperatively and show the effect of these concepts on education and are conducted by nurses are limited in number. Randomized controlled studies which compare HBM and HPM concepts preoperatively and postoperatively and show the efficiency of the interventions can be useful in evaluating the efficiency of the interventions.

  17. Identification of a DNA methylome profile of esophageal squamous cell carcinoma and potential plasma epigenetic biomarkers for early diagnosis.

    PubMed

    Li, Xufeng; Zhou, Fuyou; Jiang, Chunyu; Wang, Yinuo; Lu, Yanqiang; Yang, Fei; Wang, Nengchao; Yang, Haijun; Zheng, Yanfang; Zhang, Jiren

    2014-01-01

    DNA methylation is a critical epigenetic mechanism involved in key cellular processes. Its deregulation has been linked to many human cancers including esophageal squamous cell carcinoma (ESCC). This study was designed to explore the whole methylation status of ESCC and to identify potential plasma biomarkers for early diagnosis. We used Infinium Methylation 450k array to analyze ESCC tissues (n = 4), paired normal surrounding tissues (n = 4) and normal mucosa from healthy individuals (n = 4), and combined these with gene expression data from the GEO database. One hundred and sixty eight genes had differentially methylated CpG sites in their promoter region and a gene expression pattern inverse to the direction of change in DNA methylation. These genes were involved in several cancer-related pathways. Three genes were validated in additional 42 ESCC tissues and paired normal surrounding tissues. The methylation frequency of EPB41L3, GPX3, and COL14A1 were higher in tumor tissues than in normal surrounding tissues (P < 0.017). The higher methylation frequency of EPB41l3 was correlated with large tumor size (P = 0.044) and advanced pT tumor stage (P = 0.001). The higher methylation frequency of GPX3 and COL14A1 were correlated with advanced pN tumor stage (P = 0.001 and P < 0.001). The methylation of EPB41L3, GPX3, and COL14A1 genes were only found in ESCC patients' plasma, but not in normal individuals upon testing 42 ESCC patients and 50 healthy individuals. Diagnostic sensitivity was increased when methylation of any of the 3 genes were counted (64.3% sensitivity and 100% specificity). These differentially methylated genes in plasma may be used as biomarkers for early diagnosis of ESCC.

  18. Knowledge, attitudes and behaviors of primary health care nurses and midwives in breast cancer early diagnosis applications

    PubMed Central

    Bulut, Aliye; Bulut, Aziz

    2017-01-01

    Purpose The purpose of this research was to analyze the knowledge, attitudes and behaviors of the nurses and midwives about the early diagnosis of breast cancer. Materials and methods This cross-sectional study was carried out at 9 family medical centers (FMCs) and 1 community health center (CHC) in Bingol; the population of this research consisted of 25 midwives and 38 nurses. The protocol for this study was approved by the regional ethics committee of Bingol University. The study was performed in accordance with the principles of the Declaration of Helsinki. The purpose of this study was explained to the nurses and midwives who participated, and their written and verbal permission was obtained; great care was taken to ensure that they understood participation was voluntary. A questionnaire of 41 questions was used for the data collection. Results When the age distribution of nurses and midwives was examined, it was found that 96.8% of them were aged ≤39 years. A total of 92.0% of midwives and 84.2% of nurses practiced breast self-examination (BSE). A total of 56% of the married women practiced family planning, and the most frequent method was using contraceptive pills. A total of 88.9% of the women had never had hormonal treatment for any reason. The BSE knowledge level of 65% of the women, who performed clinical breast examination, was complete. Among the women who had full knowledge of BSE, 38.5% of them performed examination once every 6 months, 23.0% of them once a year and 38.5% of them once every 3 years. Conclusion This research showed that the deficiencies for nurses and midwives regarding the early diagnosis methods of breast cancer have been identified, and supporting these deficiencies with training is recommended. PMID:28331367

  19. 123I-FP-CIT SPECT imaging in early diagnosis of dementia in patients with and without a vascular component

    PubMed Central

    Garriga, Marina; Milà, Marta; Mir, Manzoor; Al-Baradie, Raid; Huertas, Sonia; Castejon, Cesar; Casas, Laura; Badenes, Dolors; Giménez, Nuria; Font, M. Angels; Gonzalez, Jose M.; Ysamat, Maria; Aguilar, Miguel; Slevin, Mark; Krupinski, Jerzy

    2015-01-01

    Alzheimer’s disease (AD) and vascular dementia (VaD) are the most common cause of dementia. Cerebral ischemia is a major risk factor for development of dementia. 123I-FP-CIT SPECT (DaTScan) is a complementary tool in the differential diagnoses of patients with incomplete or uncertain Parkinsonism. Additional application of DaTScan enables the categorization of Parkinsonian disease with dementia (PDD), and its differentiation from pure AD, and may further contribute to change the therapeutic decision. The aim of this study was to analyze the vascular contribution towards dementia and mild cognitive impairment (MCI). We evaluated the utility of DaTScan for the early diagnosis of dementia in patients with and without a clinical vascular component, and the association between neuropsychological function, vascular component and dopaminergic function on DaTScan. One-hundred and five patients with MCI or the initial phases of dementia were studied prospectively. We developed an initial assessment using neurologic examination, blood tests, cognitive function tests, structural neuroimaging and DaTScan. The vascular component was later quantified in two ways: clinically, according to the Framingham Risk Score (FRS) and by structural neuroimaging using Wahlund Scale Total Score (WSTS). Early diagnosis of dementia was associated with an abnormal DaTScan. A significant association was found between a high WSTS and an abnormal DaTScan (p < 0.01). Mixed AD was the group with the highest vascular component, followed by the VaD group, while MCI and pure AD showed similar WSTS. No significant associations were found between neuropsychological impairment and DaTScan independently of associated vascular component. DaTScan seems to be a good tool to discriminate, in a first clinical assessment, patients with MCI from those with established dementia. There was bigger general vascular affectation observable in MRI or CT in patients with abnormal dopaminergic uptake seen on Da

  20. (99m)Tc-MDP SPECT/CT as the one-stop imaging modality for the diagnosis of early setting of Kienbock's disease.

    PubMed

    Arora, S; Singh Dhull, V; Karunanithi, S; Kumar Parida, G; Sharma, A; Shamim, S A

    2015-01-01

    (99m)Tc-Methylene diphosphonate (MDP) triple phase bone scintigraphy (BS) has a role in early diagnosis of Kienbock's disease, especially when the X-ray is negative. Early diagnosis can result in prompt management of the patient since wrist pain in older individuals due to aging may go unnoticed or be due to other diagnoses with the production of greater damage and eventually a worse prognosis. Herein, we present a case report of a 29-year-old female with Kienbock's disease in whom the X-ray was negative and MRI incorrect. The (99m)Tc-MDP SPECT/CT BS helped the diagnosis of the disease in an early stage (stage 1) and had a clinical impact on the patient's management.

  1. Fatigue Fracture of the Calcaneus: From Early Diagnosis to Treatment: A Case Report of a Triathlon Athlete.

    PubMed

    Serrano, Simão; Figueiredo, Pedro; Páscoa Pinheiro, João

    2016-06-01

    Stress fractures are frequently underdiagnosed and undertreated despite being common in sports. Early diagnosis is crucial; therefore, a high index of clinical suspicion is required. Complementary examinations are essential for diagnosis and follow-up. The authors report a clinical case of a young adult triathlon athlete referring mechanical pain in the rear left foot, with 2 weeks' progression. An earlier increase in daily training intensity was recorded. Complementary examinations confirmed a calcaneal fatigue fracture. Immobilization and no weight bearing were introduced for an initial period of 4 weeks, and the rehabilitation process was started. Progressive weight bearing was introduced between fourth and eighth weeks. Sports activity started at the 12th week. Boundaries to sports activity were eliminated by the 24th week, without pain or functional limitation. Repetitive overload to the heel and intense axial weight bearing in association to repetitive concentric/eccentric gastrocnemius contraction are related to calcaneal stress fracture, the second most common stress fracture in the foot. Calcaneal stress fractures can be adequately treated with activity modification, without casting or surgical intervention. When in the presence of bilateral stress fractures, metabolic and nutritional issues must be considered. The case report highlights the importance of sports medicine examination for detecting intrinsic and extrinsic fatigue fracture risk factors.

  2. Kernel-based Joint Feature Selection and Max-Margin Classification for Early Diagnosis of Parkinson’s Disease

    PubMed Central

    Adeli, Ehsan; Wu, Guorong; Saghafi, Behrouz; An, Le; Shi, Feng; Shen, Dinggang

    2017-01-01

    Feature selection methods usually select the most compact and relevant set of features based on their contribution to a linear regression model. Thus, these features might not be the best for a non-linear classifier. This is especially crucial for the tasks, in which the performance is heavily dependent on the feature selection techniques, like the diagnosis of neurodegenerative diseases. Parkinson’s disease (PD) is one of the most common neurodegenerative disorders, which progresses slowly while affects the quality of life dramatically. In this paper, we use the data acquired from multi-modal neuroimaging data to diagnose PD by investigating the brain regions, known to be affected at the early stages. We propose a joint kernel-based feature selection and classification framework. Unlike conventional feature selection techniques that select features based on their performance in the original input feature space, we select features that best benefit the classification scheme in the kernel space. We further propose kernel functions, specifically designed for our non-negative feature types. We use MRI and SPECT data of 538 subjects from the PPMI database, and obtain a diagnosis accuracy of 97.5%, which outperforms all baseline and state-of-the-art methods. PMID:28120883

  3. Consolidating HIV testing in a public health laboratory for efficient and sustainable early infant diagnosis (EID) in Uganda.

    PubMed

    Kiyaga, Charles; Sendagire, Hakim; Joseph, Eleanor; Grosz, Jeff; McConnell, Ian; Narayan, Vijay; Esiru, Godfrey; Elyanu, Peter; Akol, Zainab; Kirungi, Wilford; Musinguzi, Joshua; Opio, Alex

    2015-05-01

    Uganda introduced an HIV Early Infant Diagnosis (EID) program in 2006, and then worked to improve the laboratory, transportation, and clinical elements. Reported here are the activities involved in setting up a prospective analysis in which the Ministry of Health, with its NGO partners, determined it would be more effective and efficient to consolidate the initial eight-laboratory system for EID testing of HIV dried blood samples offered by two nongovernmental partners operating research facilities into a single well-equipped and staffed laboratory within the Ministry. A retrospective analysis confirmed that redesign reduced overhead cost per PCR test of HIV dried blood samples from US$22.20 to an average of $5. Along with the revamped system of sample collection, transportation, and result communication, Uganda has been able to vastly increase the HIV diagnosis of babies and engagement of them and their mothers in clinical care, including antiretroviral therapy. Uganda reduced turnaround times for results reporting to clinicians from more than a month in 2006 to just 2 weeks by 2014, even as samples tested increased dramatically. The next challenge is overcoming loss of babies and mothers to follow up.

  4. Early molecular diagnosis of acute Chagas disease after transplantation with organs from Trypanosoma cruzi-infected donors.

    PubMed

    Cura, C I; Lattes, R; Nagel, C; Gimenez, M J; Blanes, M; Calabuig, E; Iranzo, A; Barcan, L A; Anders, M; Schijman, A G

    2013-12-01

    Organ transplantation (TX) is a novel transmission modality of Chagas disease. The results of molecular diagnosis and characterization of Trypanosoma cruzi acute infection in naïve TX recipients transplanted with organs from infected deceased donors are reported. Peripheral blood and cerebrospinal fluid samples from the TX recipients of organs from infected donors were prospectively and sequentially studied for detection of T. cruzi by means of kinetoplastid DNA polymerase chain reaction (kDNA-PCR). In positive blood samples, a PCR algorithm for identification of T. cruzi Discrete Typing Units (DTUs) and quantitative real-time PCR (qPCR) to quantify parasitic loads were performed. Minicircle signatures of T. cruzi infecting populations were also analyzed using restriction fragment length polymorphism (RFLP)-PCR. Eight seronegative TX recipients from four infected donors were studied. In five, the infection was detected at 68.4 days post-TX (36-98 days). In one case, it was transmitted to two of three TX recipients. The comparison of the minicircle signatures revealed nearly identical RFLP-PCR profiles, confirming a common source of infection. The five cases were infected by DTU TcV. This report reveals the relevance of systematic monitoring of TX recipients using PCR strategies in order to provide an early diagnosis allowing timely anti-trypanosomal treatment.

  5. Kernel-based Joint Feature Selection and Max-Margin Classification for Early Diagnosis of Parkinson’s Disease

    NASA Astrophysics Data System (ADS)

    Adeli, Ehsan; Wu, Guorong; Saghafi, Behrouz; An, Le; Shi, Feng; Shen, Dinggang

    2017-01-01

    Feature selection methods usually select the most compact and relevant set of features based on their contribution to a linear regression model. Thus, these features might not be the best for a non-linear classifier. This is especially crucial for the tasks, in which the performance is heavily dependent on the feature selection techniques, like the diagnosis of neurodegenerative diseases. Parkinson’s disease (PD) is one of the most common neurodegenerative disorders, which progresses slowly while affects the quality of life dramatically. In this paper, we use the data acquired from multi-modal neuroimaging data to diagnose PD by investigating the brain regions, known to be affected at the early stages. We propose a joint kernel-based feature selection and classification framework. Unlike conventional feature selection techniques that select features based on their performance in the original input feature space, we select features that best benefit the classification scheme in the kernel space. We further propose kernel functions, specifically designed for our non-negative feature types. We use MRI and SPECT data of 538 subjects from the PPMI database, and obtain a diagnosis accuracy of 97.5%, which outperforms all baseline and state-of-the-art methods.

  6. A diagnosis model for early Tourette syndrome children based on brain structural network characteristics

    NASA Astrophysics Data System (ADS)

    Wen, Hongwei; Liu, Yue; Wang, Jieqiong; Zhang, Jishui; Peng, Yun; He, Huiguang

    2016-03-01

    Tourette syndrome (TS) is a childhood-onset neurobehavioral disorder characterized by the presence of multiple motor and vocal tics. Tic generation has been linked to disturbed networks of brain areas involved in planning, controlling and execution of action. The aim of our work is to select topological characteristics of structural network which were most efficient for estimating the classification models to identify early TS children. Here we employed the diffusion tensor imaging (DTI) and deterministic tractography to construct the structural networks of 44 TS children and 48 age and gender matched healthy children. We calculated four different connection matrices (fiber number, mean FA, averaged fiber length weighted and binary matrices) and then applied graph theoretical methods to extract the regional nodal characteristics of structural network. For each weighted or binary network, nodal degree, nodal efficiency and nodal betweenness were selected as features. Support Vector Machine Recursive Feature Extraction (SVM-RFE) algorithm was used to estimate the best feature subset for classification. The accuracy of 88.26% evaluated by a nested cross validation was achieved on combing best feature subset of each network characteristic. The identified discriminative brain nodes mostly located in the basal ganglia and frontal cortico-cortical networks involved in TS children which was associated with tic severity. Our study holds promise for early identification and predicting prognosis of TS children.

  7. [Present possibilities of early diagnosis of hearing disorders in children belonging to the youngest age groups].

    PubMed

    Cápová, L

    1992-08-01

    In a great proportion of children loss of hearing originates during the neonatal period. It is assumed that of 1000 neonates some 6 to 16 children suffer from impaired hearing. By early detection of hearing loss during neonatal and infant age by appropriate treatment, rehabilitation and training it is possible to achieve optimal speech development as well as development of mental and somatic abilities and to ensure to these children an adequate role in society. Early detection of impaired hearing based on screening of risk children already during the neonatal period is based on the use a risk registry. At the same time it is important to make parents and paediatricians of the first line of contact familiar with developmental stages of hearing and speech during the first year of life. Risk children must be dispensarized and they must be objected to orientative examination of hearing by reflex audiometry and other screening methods incl. the method of assessment of evoked otoacoustic emission. By systematic screening is is possible to detect suspected loss of hearing in as many as 60% of risk children. To verify the suspect impaired hearing it is necessary to make an objective examination of hearing by a child otolaryngologist.

  8. Urinary Netrin-1: A New Biomarker for the Early Diagnosis of Renal Damage in Obese Children

    PubMed Central

    Övünç Hacıhamdioğlu, Duygu; Hacıhamdioğlu, Bülent; Altun, Demet; Müftüoğlu, Tuba; Karademir, Ferhan; Süleymanoğlu, Selami

    2016-01-01

    Objective: Urinary netrin-1 is a new marker to demonstrate early tubular damage. The aim of this study was to determine whether urinary netrin-1 is increased in obese children. Methods: A total of 68 normoalbuminuric and normotensive obese patients and 65 controls were included in the study. Urine samples were collected for assessment of urinary phosphorus, sodium, potassium, creatinine, albumin, and netrin-1. Blood samples were collected for measurements of fasting glucose, insulin, lipid, phosphorus, sodium, potassium, and creatinine levels. Homeostatic model assessment insulin resistance index was calculated. Results: Gender and age were similar between obese and control groups (12.01±3.03 vs. 11.7±3.2 years, p=0.568 and 33 vs. 35 girls, p=0.543, respectively). Obese patients had significantly higher netrin-1 excretion than the controls (841.68±673.17 vs. 228.94±137.25 pg/mg creatinine, p=0.000). Urinary netrin-1 level was significantly higher in obese subjects with insulin resistance compared to those without insulin resistance (1142±1181 vs. 604.9±589.91 pg/mg creatinine, p=0.001). Conclusion: In normotensive and normoalbuminuric obese children, urinary netrin-1 level can increase before onset of albuminuria. Urinary netrin-1 excretion appears to be affected predominantly by insulin resistance and hyperinsulinemia. Urinary netrin-1 may be a new biomarker for determining early tubular injury in obese children. PMID:27087488

  9. Diagnosis of early-stage esophageal cancer by Raman spectroscopy and chemometric techniques.

    PubMed

    Ishigaki, Mika; Maeda, Yasuhiro; Taketani, Akinori; Andriana, Bibin B; Ishihara, Ryu; Wongravee, Kanet; Ozaki, Yukihiro; Sato, Hidetoshi

    2016-02-07

    Esophageal cancer is a disease with high mortality. In order to improve the 5 year survival rate after cancer treatment, it is important to develop a method for early detection of the cancer and for therapy support. There is increasing evidence that Raman spectroscopy, in combination with chemometric analysis, is a powerful technique for discriminating pre-cancerous and cancerous biochemical changes. In the present study, we used Raman spectroscopy to examine early-stage (stages 0 and I) esophageal cancer samples ex vivo. Comparison between the Raman spectra of cancerous and normal samples using a t-test showed decreased concentrations of glycogen, collagen, and tryptophan in cancerous tissue. Partial least squares regression (PLSR) analysis and self-organization maps (SOMs) discriminated the datasets of cancerous and normal samples into two groups, but there was a relatively large overlap between them. Linear discriminant analysis (LDA) based on Raman bands found in the t-test was able to predict the tissue types with 81.0% sensitivity and 94.0% specificity.

  10. Potential molecular approaches for the early diagnosis of lung cancer (review).

    PubMed

    Oak, Chul Ho; Wilson, Donald; Lee, Hu Jang; Lim, Ho-Ju; Park, Eun-Kee

    2012-11-01

    Lung cancer is the leading cause of mortality from cancer among men and women worldwide. More individuals die each year of lung cancer than of colon, breast and prostate cancer combined. Despite new diagnostic techniques, the overall 5-year survival rate remains at approximately 15% and the majority of patients still present with advanced disease. Therefore, lung cancer is the most lethal cancer at present. Diagnosing and treating cancer at its early stages, ideally during the precancerous stages, could increase the 5-year survival rate by 3-4‑fold, with the possibility of cure. To date, no screening method has been shown to decrease the disease-specific mortality rate. This review describes issues related to early lung cancer screening and their rationale, the management of primary cancers detected by screening and the different approaches that have been tested for cancer screening; these include imaging techniques, bronchoscopies and molecular screening, such as analysis of epigenomics using different noninvasive or invasive sources, such as blood, sputum, bronchoscopic samples and exhaled breath.

  11. [Minimally invasive brush-biopsy: innovative method for early diagnosis of oral squamous cell carcinoma].

    PubMed

    Remmerbach, Torsten W; Hemprich, Alexander; Böcking, Alfred

    2007-01-01

    The aim of this prospective and blinded study was to investigate the diagnostic accuracy of conventional cytopathology of oral brush biopsies taken from suspicious oral lesions. In addition we checked slide based DNA image cytometry as an adjuvant diagnostic tool. Our hypothesis is that DNA aneuploidy is a sensitive and specific marker for earliest detection of oral cancer using brush biopsies. Therefore the nuclear DNA contents were measured after Feulgen re-staining using a TV image analysis system. DNA aneuploidy was assumed if abnormal DNA stemlines or cells with DNA content greater 9c were observed. Sensitivity of our cytological diagnosis in oral smears for the detection of cancer cells thus was 91.3%, specificity for the detection of non-neoplastic cells was 95.1%, positive predictive value 94.4% and negative predictive value 92.3%. The adjuvant DNA image cytometry reached a sensitivity of 97.8%, the specificity and the positive predictive value were 100% and negative predictive value was 98.1%, respectively. Smears from oral brush biopsies of all visible oral lesions are an easily practicable, cheap, minimal invasive, painless and safe screening method for detection of oral precancerous lesions and squamous cell carcinomas in all stages. We conclude that DNA image cytometry is a very sensitive and highly specific, objective and reproducible adjuvant tool for identification of neoplastic cells in oral smears.

  12. Clostridium septicum Gas Gangrene in Colon Cancer: Importance of Early Diagnosis.

    PubMed

    Nanjappa, Sowmya; Shah, Sweta; Pabbathi, Smitha

    2015-01-01

    The Clostridia species are responsible for some of the deadliest diseases including gas gangrene, tetanus, and botulism. Clostridium septicum is a rare subgroup known to cause atraumatic myonecrosis and is associated with colonic malignancy or immunosuppression. It is a Gram-positive, anaerobic, spore-forming bacillus found in the gastrointestinal tract and can lead to direct, spontaneous infections of the bowel and peritoneal cavity. The anaerobic glycolysis of the tumor produces an acidic, hypoxic environment favoring germination of clostridial spores. Tumor-induced mucosal ulceration allows for translocation of sporulated bacteria from the bowel into the bloodstream, leading to fulminant sepsis. C. septicum bacteremia can have a variable presentation and is associated with greater than 60% mortality rate. The majority of deaths occur within the first 24 hours if diagnosis and appropriate treatment measures are not promptly started. We report a case of abdominal myonecrosis in a patient with newly diagnosed colon cancer. The aim of this study is to stress the importance of maintaining a high suspicion of C. septicum infection in patients with underlying colonic malignancy.

  13. A new strategy for the early diagnosis of rheumatoid arthritis: a combined approach.

    PubMed

    Tedesco, A; D'Agostino, D; Soriente, I; Amato, P; Piccoli, R; Sabatini, P

    2009-01-01

    Rheumatoid arthritis [RA] is one of the most common and severe autoimmune rheumatic diseases, diagnosed primarily according to clinical manifestations and radiological reports. For many years, laboratory diagnosis of rheumatoid arthritis has relied on the detection of rheumatoid factor [RF], as established by the ACR criteria. A recent test to detect antibodies towards citrullinated peptides, called the anti-CCP assay, showed a similar sensitivity but a more elevated specificity than the RF test. Our intention was the recognition of an optimal diagnostic strategy that exhibits the highest sensitivity and specificity for RA detection. To this purpose, we examine the usefulness of autoantibodies in RA testing, evaluating the diagnostic performance of conventional and innovative assays for RF detection, and ELISA anti-CCP test, for anti-CCP antibodies detection, by a prospective study. Multiplex cytofluorimetric test appeared to be more sensitive and specific than nephelometric assay for RF detection. Hence, a novel combined approach, significantly increasing the diagnostic sensitivity for RA, was planned, employing the multiplex RF test in combination with the anti-CCP test.

  14. Wavelet-based multifractal analysis of dynamic infrared thermograms to assist in early breast cancer diagnosis

    PubMed Central

    Gerasimova, Evgeniya; Audit, Benjamin; Roux, Stephane G.; Khalil, André; Gileva, Olga; Argoul, Françoise; Naimark, Oleg; Arneodo, Alain

    2014-01-01

    Breast cancer is the most common type of cancer among women and despite recent advances in the medical field, there are still some inherent limitations in the currently used screening techniques. The radiological interpretation of screening X-ray mammograms often leads to over-diagnosis and, as a consequence, to unnecessary traumatic and painful biopsies. Here we propose a computer-aided multifractal analysis of dynamic infrared (IR) imaging as an efficient method for identifying women with risk of breast cancer. Using a wavelet-based multi-scale method to analyze the temporal fluctuations of breast skin temperature collected from a panel of patients with diagnosed breast cancer and some female volunteers with healthy breasts, we show that the multifractal complexity of temperature fluctuations observed in healthy breasts is lost in mammary glands with malignant tumor. Besides potential clinical impact, these results open new perspectives in the investigation of physiological changes that may precede anatomical alterations in breast cancer development. PMID:24860510

  15. A case of calcific retropharyngeal tendinitis: the significance of an early diagnosis.

    PubMed

    Terao, Kyoichi; Kusunoki, Takeshi; Mori, Kazunori; Murata, Kiyotaka; Doi, Katsumi

    2013-02-01

    The clinical presentation of calcific retropharyngeal tendinitis, a rare entity, can mimic more serious disorders. We describe the case of a 35-year-old man who was referred to us for evaluation of a suspected retropharyngeal abscess. At presentation, the patient reported severe cervical pain and stiffness. He exhibited mild fever, torticollis, and a moderately elevated white blood count; no swelling of the retropharyngeal wall was observed. Based on the results of plain radiography and computed tomography (CT), we diagnosed the patient with calcific retropharyngeal tendinitis. He was treated with a 7-day course of a nonsteroidal anti-inflammatory drug and a 3-day course of a steroid, and he recovered well. We suggest that the true incidence of calcific retropharyngeal tendinitis is actually higher than what is generally believed because this diagnosis is frequently missed. Contrast-enhanced CT can aid in diagnosing calcific retropharyngeal tendinitis. CT should be performed in patients who present with nonspecific symptoms such as severe neck pain, sore throat, odynophagia, and mild fever.

  16. Immediate-Early Gene Transcriptional Activation in Hippocampus Ca1 and Ca3 Does Not Accurately Reflect Rapid, Pattern Completion-Based Retrieval of Context Memory

    ERIC Educational Resources Information Center

    Pevzner, Aleksandr; Guzowski, John F.

    2015-01-01

    No studies to date have examined whether immediate-early gene (IEG) activation is driven by context memory recall. To address this question, we utilized the context preexposure facilitation effect (CPFE) paradigm. In CPFE, animals acquire contextual fear conditioning through hippocampus-dependent rapid retrieval of a previously formed contextual…

  17. Kidney Disease and the Nexus of Chronic Kidney Disease and Acute Kidney Injury: The Role of Novel Biomarkers as Early and Accurate Diagnostics.

    PubMed

    Yerramilli, Murthy; Farace, Giosi; Quinn, John; Yerramilli, Maha

    2016-11-01

    Chronic kidney disease (CKD) and acute kidney injury (AKI) are interconnected and the presence of one is a risk for the other. CKD is an important predictor of AKI after exposure to nephrotoxic drugs or major surgery, whereas persistent or repetitive injury could result in the progression of CKD. This brings new perspectives to the diagnosis and monitoring of kidney diseases highlighting the need for a panel of kidney-specific biomarkers that reflect functional as well as structural damage and recovery, predict potential risk and provide prognosis. This article discusses the kidney-specific biomarkers, symmetric dimethylarginine (SDMA), clusterin, cystatin B, and inosine.

  18. Early diagnosis of incipient caries based on non-invasive lasers

    NASA Astrophysics Data System (ADS)

    Velescu, A.; Todea, C.; Vitez, B.

    2016-03-01

    AIM: The aim of this study is to detect incipient caries and enamel demineralization using laser fluorescence.This serves only as an auxilary aid to identify and to monitor the development of these lesions. MATERIALS AND METHODS: 6 patients were involved in this study, three females and three male. Each patient underwent a professional cleaning, visual examination of the oral cavity, and then direct inspection using DiagnoCam and DIAGNOdent. After data recording each patient was submitted to retro-alveolar X-ray on teeth that were detected with enamel lesions. All data was collected and analyzed statistically. RESULTS: Of 36 areas considered in clinically healthy, 24 carious surfaces were found using laser fluorescence, a totally non-invasive method for detecting incipient carious lesions compared with the radiographic examination. CONCLUSIONS: This method has good applicability for patients because it improves treatment plan by early detection of caries and involves less fear for anxious patients and children.

  19. Non-invasive toluene sensor for early diagnosis of lung cancer

    NASA Astrophysics Data System (ADS)

    Saxena, Rahul; Srivastava, Sudha

    2016-04-01

    Here we present, quantification of volatile organic compounds in human breath for early detection of lung cancer to increase survival probability. Graphene oxide nanosheets synthesized by modified Hummer's method were employed as a sensing element to detect the presence of toluene in the sample. Optical and morphological characterization of synthesized nanomaterial was performed by UV-Visible spectroscopy and scanning electron microscopy (SEM) respectively. Spectroscopic assay shows a linearly decreasing intensity of GO absorption peak with increasing toluene concentration with a linear range from 0-200 pM. While impedimetric sensor developed on a graphene oxide nanosheetsmodified screen printed electrodes displayed a decreasing electron transfer resistance increasing toluene with much larger linear range of 0-1000 pM. Reported techniques are advantageous as these are simple, sensitive and cost effective, which can easily be extended for primary screening of other VOCs.

  20. Novel camelid antibody fragments targeting recombinant nucleoprotein of Araucaria hantavirus: a prototype for an early diagnosis of Hantavirus Pulmonary Syndrome.

    PubMed

    Pereira, Soraya S; Moreira-Dill, Leandro S; Morais, Michelle S S; Prado, Nidiane D R; Barros, Marcos L; Koishi, Andrea C; Mazarrotto, Giovanny A C A; Gonçalves, Giselle M; Zuliani, Juliana P; Calderon, Leonardo A; Soares, Andreimar M; Pereira da Silva, Luiz H; Duarte dos Santos, Claudia N; Fernandes, Carla F C; Stabeli, Rodrigo G

    2014-01-01

    In addition to conventional antibodies, camelids produce immunoglobulins G composed exclusively of heavy chains in which the antigen binding site is formed only by single domains called VHH. Their particular characteristics make VHHs interesting tools for drug-delivery, passive immunotherapy and high-throughput diagnosis. Hantaviruses are rodent-borne viruses of the Bunyaviridae family. Two clinical forms of the infection are known. Hemorrhagic Fever with Renal Syndrome (HFRS) is present in the Old World, while Hantavirus Pulmonary Syndrome (HPS) is found on the American continent. There is no specific treatment for HPS and its diagnosis is carried out by molecular or serological techniques, using mainly monoclonal antibodies or hantavirus nucleoprotein (N) to detect IgM and IgG in patient serum. This study proposes the use of camelid VHHs to develop alternative methods for diagnosing and confirming HPS. Phage display technology was employed to obtain VHHs. After immunizing one Lama glama against the recombinant N protein (prNΔ₈₅) of a Brazilian hantavirus strain, VHH regions were isolated to construct an immune library. VHHs were displayed fused to the M13KO7 phage coat protein III and the selection steps were performed on immobilized prNΔ₈₅. After selection, eighty clones recognized specifically the N protein. These were sequenced, grouped based mainly on the CDRs, and five clones were analyzed by western blot (WB), surface plasmon resonance (SPR) device, and ELISA. Besides the ability to recognize prNΔ85 by WB, all selected clones showed affinity constants in the nanomolar range. Additionaly, the clone KC329705 is able to detect prNΔ₈₅ in solution, as well as the native viral antigen. Findings support the hypothesis that selected VHHs could be a powerful tool in the development of rapid and accurate HPS diagnostic assays, which are essential to provide supportive care to patients and reduce the high mortality rate associated with hantavirus

  1. Characterization of newborn's cries for the early diagnosis of various diseases

    NASA Astrophysics Data System (ADS)

    Kheddache, Yasmina

    The use of newborn cry signals in diagnosis is based on many theories proposed lately. The main objective in these researches is the cry signals modeling and spectrographic analysis. It has been shown that the newborn cry acoustics are linked to particular medical conditions. This thesis is motivated by improvement of the accuracy of pathological cries recognition. This can be performed by the combination of several acoustic parameters from spectrographic analysis and parameters that describe the configuration of vocal tract and vocal folds. Acoustic characteristics representing the vocal tract were widely applied to the classification of the cries. However the usefulness of vocal folds characteristics in the automatic recognition, as well as their effective techniques extraction have not been exploited deeply. In this context, we have performed a qualitative characterization of healthy and pathologic newborns cries using characteristics that have been defined in the literature and which describe vocal tract and vocal folds behavior during the cry. This step allowed us to identify the most relevant features in the differentiation of the studied pathological cries. For the extraction of selected characteristics, we have implemented effective measure methods that avoid the overestimation and underestimation of characteristics. The proposed and used approach for characteristics quantification facilitates the automatic analysis of cries and allows efficient use of these features in the diagnostic system. We also conducted experimental tests for the validation of all proposed approaches in this thesis. The results are suitable and show an improvement of the cry-based pathology recognition. The work presented in this thesis is a collection of three articles published/submitted in various journals. Two other papers published in conferences are presented in the annexes.

  2. Early Diagnosis of Brain Metastases Using a Biofluids-Metabolomics Approach in Mice

    PubMed Central

    Larkin, James R.; Dickens, Alex M.; Claridge, Timothy D. W.; Bristow, Claire; Andreou, Kleopatra; Anthony, Daniel C.; Sibson, Nicola R.

    2016-01-01

    Over 20% of cancer patients will develop brain metastases. Prognosis is currently extremely poor, largely owing to late-stage diagnosis. We hypothesized that biofluid metabolomics could detect tumours at the micrometastatic stage, prior to the current clinical gold-standard of blood-brain barrier breakdown. Metastatic mammary carcinoma cells (4T1-GFP) were injected into BALB/c mice via intracerebral, intracardiac or intravenous routes to induce differing cerebral and systemic tumour burdens. B16F10 melanoma and MDA231BR-GFP human breast carcinoma cells were used for additional modelling. Urine metabolite composition was analysed by 1H NMR spectroscopy. Statistical pattern recognition and modelling was applied to identify differences or commonalities indicative of brain metastasis burden. Significant metabolic profile separations were found between control cohorts and animals with tumour burdens at all time-points for the intracerebral 4T1-GFP time-course. Models became stronger, with higher sensitivity and specificity, as the time-course progressed indicating a more severe tumour burden. Sensitivity and specificity for predicting a blinded testing set were 0.89 and 0.82, respectively, at day 5, both rising to 1.00 at day 35. Significant separations were also found between control and all 4T1-GFP injected mice irrespective of route. Likewise, significant separations were observed in B16F10 and MDA231BR-GFP cell line models. Metabolites underpinning each separation were identified. These findings demonstrate that brain metastases can be diagnosed in an animal model based on urinary metabolomics from micrometastatic stages. Furthermore, it is possible to separate differing systemic and CNS tumour burdens, suggesting a metabolite fingerprint specific to brain metastasis. This method has strong potential for clinical translation. PMID:27924154

  3. Can Radiology Play a Role in Early Diagnosis of Dengue Fever?

    PubMed Central

    Chandak, Shruti; Kumar, Ashutosh

    2016-01-01

    Background: Dengue fever (DF) is a viral hemorrhagic fever causing severe morbidity and mortality in affected patients. Aims: The purpose of our study was to evaluate the changing trends in radiological findings in DF, to find if ultrasound is useful in the diagnosis of DF during an epidemic in absence of serological tests, and also to investigate the effects of DF in pregnancy. Materials and Methods: A prospective study was conducted in 2013 comprising of 400 patients who were serologically positive for dengue. Out of these, radiological investigations were conducted for 107 patients who were analyzed. Results: Out of the 107 patients, 85 patients underwent ultrasound, 12 computed tomography (CT) scans of brain or paranasal sinuses, and 21 chest radiography. The maximum numbers of patients (79%) were in the age group of 20-50 years. The most common ultrasound finding was hepatomegaly that was seen in 62% of the patients. Other findings were splenomegaly (45%), gallbladder (GB) wall edema (45%), right-sided pleural effusion (37%), bilateral pleural effusion (22%), and ascites (36%). Out of 10 pregnant patients, 5 had oligohydramnios, 2 had intrauterine growth restriction, 2 had intrauterine fetal demise, and 5 had a normal antenatal ultrasound. Conclusion: Ultrasound findings of hepatosplenomegaly, GB wall edema, right-sided or bilateral pleural effusion, and ascites in patients presenting with signs and symptoms of DF during an epidemic are virtually diagnostic of DF. There have been recent changing trends with hepatosplenomegaly being the more common manifestation, in comparison to ascites and GB wall edema. DF also has catastrophic effects in pregnancy such as oligohydramnios and intrauterine fetal demise. PMID:27042608

  4. Anomalies of intra-synovial citrullination: is there any interest in the diagnosis of early rheumatoid arthritis?

    PubMed

    Mrabet, Dalila; Laadhar, Lilia; Haouet, Slim; Sahli, Héla; Zouari, Béchir; Makni, Sondès; Sellami, Slaheddine

    2013-03-01

    Autoantibodies to citrullinated proteins (ACPA) are specifically associated with rheumatoid arthritis (RA) and seem to play an important role in its pathogenesis. The specific immunological conflict between ACPA and citrullinated fibrin plays a major role in the self-maintenance of synovial inflammation by forming fibrin deposits in the synovial tissue. These deposits, secondarily citrullinated by a local peptidylarginine deiminase (PADI) enzyme activity, seem to maintain the immunological conflict and the inflammation. Our objective in this work is to study the anomalies of citrullination in a group of patients with early RA, in comparison with a control group of patients suffering from undetermined inflammatory arthritis, osteoarthritis and spondyloarthropathy. For this purpose, we used an enzyme-linked immunosorbent assay (ELISA) to determine the levels of ACPA in serum and synovial fluid. By immunohistochemistry, subtype 4 of PADI was also sought in the synovial biopsies taken from all our patients. We found that the ACPA levels in serum and synovial fluid were significantly higher in patients with RA. The enzyme PADI4 was found only in the group with RA and was statistically correlated with ACPA mean levels in sera and synovial fluid. The expression of PADI4 seems to correlate with intra-synovial deposits of fibrin in RA. However, determination of synovial ACPA levels and detection of intra-synovial PADI4 deposits are of no additional benefit compared with assessment of ACPA levels in serum for the diagnosis of early RA.

  5. The Effect of Education on the Early Diagnosis of Breast and Cervix Cancer on the Women's Attitudes and Behaviors Regarding Participating in Screening Programs.

    PubMed

    Kocaöz, Semra; Özçelik, Hanife; Talas, Melek Serpil; Akkaya, Fulya; Özkul, Fatma; Kurtuluş, Ayla; Ünlü, Fahriye

    2017-03-11

    The objective of this paper was to define the effect of education on the early diagnosis of breast and cervix cancer on the women's attitudes and behaviors regarding participating in Cancer Early Diagnosis, Screening and Training Centers-CEDSTC screening programs. This semi-experimental study was completed with 342 women. The data were collected with forms "Champion's Health Belief Model Scale Breast Cancer-HBMSBC" and "Health Belief Model Scale for Cervical Cancer and the Pap Smear Test-HBMSCCPST." When the women's health beliefs before and after 6 months of the education about the early diagnosis of breast and cervical cancers are considered, it is seen that the HBMSBC subscales health motivation, breast self-examination (BSE), and evasion to mammography (MMG) decreased and BSE self-efficacy and MMG benefit attitudes increased and HBMSCCPST subscales pap smear benefit attitudes increased and evasion to pap smear attitude decreased (p < 0.05). Six months after the education, 28.4% of the women had undergone MMG, 69.9% had performed BSE, and 33.6% had undergone a pap smear test. Education regarding early diagnosis of breast and cervix cancer was found to have positive effects on the health behaviors of the women related to BSE, MMG, and pap smear tests. The women require professional education program for increasing their attitudes and behaviors for CEDSTC screening programs. We suggest regularly providing education to increase participation in early screening programs.

  6. Adult neurogenesis: a potential tool for early diagnosis in Alzheimer's disease?

    PubMed

    Lopez-Toledano, Miguel A; Ali Faghihi, Mohammad; Patel, Nikunj S; Wahlestedt, Claes

    2010-01-01

    Alzheimer's disease (AD) is a devastating age-related neurodegenerative disorder characterized by progressive impairment of cognition and short-term memory loss. The deposition of amyloid-beta (Abeta) 1-42 into senile plaques is an established feature of AD neuropathology. Controversy still exists about the amyloid pathway as the initiating mechanism or a mere consequence of the events leading to AD. Nevertheless, Abeta toxicity has been probed in vitro and in vivo and increased production or decreased clearance of Abeta peptides are reported to play a major role in the development of AD. Treatment of neural stem cells with Abeta in vitro induces neuronal differentiation. Increased neurogenesis has been also described in AD patients as well as in amyloid-beta protein precursor (AbetaPP) transgenic mice. Adult neurogenesis is greatly enhanced in young AbetaPP transgenic mice, before other AD-liked pathologies, and reduced in older animals. This increased neurogenesis at young ages might be the first pathology related to AD, which is detectable long before other harmful manifestation of the disease. Therefore, understanding the mechanisms of Abeta-induced neurogenesis will reveal insights into the pathogenesis of AD and may prove useful as an early AD biomarker.

  7. A laminar optical tomography system for the early cervical cancer diagnosis

    NASA Astrophysics Data System (ADS)

    Cui, Shanshan; Jia, Mengyu; Chen, Xueying; Meng, Wei; Gao, Feng; Zhao, Huijuan

    2014-03-01

    Laminar optical tomography (LOT) is a new mesoscopic functional optical imaging technique, which is an extension of a confocal microscope and diffuse optical tomography to acquire both the coaxial and off-axis scattered light at the same time. In this paper, a LOT system with a larger detection area aiming at the in vivo detection of early cervical cancer is developed. The field of view of our system is 10 mm x 10 mm. In order to improve the image quality of the system, two methods were performed: the correction of image distortion and the restriction of returning light. The performance of the system with aperture stop was assessed by liquid phantom experiments. Comparing with the Monte Carlo simulation, the measurement results show that the average relative errors of eight different source-detector distances corresponding to 4 source points are lower than the errors of the system taking the frame of objective lens as the aperture stop by 5.7%, 4.8%, 6.1%, 6.1% respectively. Moreover, the experiment based on the phantom with specified structure and optical parameters to simulate the cervix demonstrates that the system perform well for the cervix measurement.

  8. Plantar thermography is useful in the early diagnosis of diabetic neuropathy

    PubMed Central

    Balbinot, Luciane Fachin; Canani, Luis Henrique; Robinson, Caroline Cabral; Achaval, Matilde; Zaro, Milton Antônio

    2012-01-01

    OBJECTIVES: This study evaluated plantar thermography sensitivity and specificity in diagnosing diabetic polyneuropathy using cardiac tests (heart rate variability) as a reference standard because autonomic small fibers are affected first by this disease. METHODS: Seventy-nine individuals between the ages of 19 and 79 years old (28 males) were evaluated and divided into three groups: control (n = 37), pre-diabetics (n = 13) and type 2 diabetics (n = 29). The plantar images were recorded at baseline and then minutes after a provocative maneuver (Cold Stress Test) using an infrared camera that is appropriate for clinical use. Two thermographic variables were studied: the thermal recovery index and the interdigital anisothermal technique. Heart rate variability was measured in a seven-test battery that included three spectral indexes (in the frequency domain) and four Ewing tests (the Valsalva maneuver, the orthostatic test, a deep breathing test, and the orthostatic hypotension test). Other classically recommended tests were applied, including electromyography (EMG), Michigan inventory, and a clinical interview that included a neurological physical examination. RESULTS: Among the diabetic patients, the interdigital anisothermal technique alone performed better than the thermal recovery index alone, with a better sensitivity (81.3%) and specificity (46.2%). For the pre-diabetic patients, the three tests performed equally well. None of the control subjects displayed abnormal interdigital anisothermal readouts or thermal recovery indices, which precluded the sensitivity estimation in this sample of subjects. However, the specificity (70.6%) was higher in this group. CONCLUSION: In this study, plantar thermography, which predominately considers the small and autonomic fibers that are commonly associated with a sub-clinical condition, proved useful in diagnosing diabetic neuropathy early. The interdigital anisothermal test, when used alone, performed best

  9. Early diagnosis of diabetic vascular complications: impairment of red blood cell deformability

    NASA Astrophysics Data System (ADS)

    Shin, Sehyun; Ku, Yunhee; Park, Cheol-Woo; Suh, Jang-Soo

    2006-02-01

    patients regardless of the presence or absence of diabetes. In diabetic patients, early impairment in RBC deformability appears in patients with normal renal function.

  10. Peritoneal Potassium and pH Measurement in Early Diagnosis of Acute Mesenteric Ischemia in Rats

    PubMed Central

    Hosseinpour, Mehrdad; Khamechian, Tahere; Shahrokh, Soraya

    2014-01-01

    Background: In contemporary practice, acute mesenteric ischemia (AMI) remains a serious cause of morbidity and mortality in abdominal emergencies. Objectives: We report the measurement of peritoneal fluid potassium and pH on a small series of rats that developed extensive AMI following the surgical ligation of superior mesenteric vessels and compare the results with control groups. Materials and Methods: A total of 32 rats were used in our study. They were divided into four groups with eight rats in each one and received following treatments: group I (G-I), 60-minute controls; group II (G-II), 120-minute controls; group III (G-III), 60-minute cases; and group IV (G-IV), 120-minute cases. In case groups, the small bowel mesenteric root was double-ligated and an arrow single-lumen central venous catheter was passed through the skin to the peritoneum. In control groups, the catheter was placed without any intervention. Postoperatively, peritoneal lavage was performed at 60 (G-I, G-III) and 120 minutes (G-II, G-IV). Results: The mean peritoneal potassium values were 1.3 ± 0.3, 1.97 ± 1.06, 2.14 ± 0.89, and 3.28 ± 0.66 mmol/L in G-I, G-II, G-III, and G-IV, respectively. There were significant differences between G-III and G-IV (P = 0.002), between G-I and G-III (P = 0.024), and between G-II and G-IV (P = 0.001). The mean values of peritoneal fluid pH were 7.1 ± 0.26, 6.82 ± 0.22, 6.66 ± 0.16, and 6.78 ± 0.04 in G-I, G-II, G-III, and G-IV, respectively, which indicated significant differences between G-I and G-III (P = 0.001) and between G-II and G-IV (P = 0.018). There was a significant correlation between peritoneal fluid potassium and intestine ischemic grade (F = 4.77, P = 0.048) Conclusions Our findings show that for early detection of bowel ischemia, an evaluation of intraperitoneal potassium and pH was useful and with prolongation of ischemia, potassium changes were more significant. PMID:25599068

  11. Accurate in vitro cleavage by RNase III of phosphorothioate-substituted RNA processing signals in bacteriophage T7 early mRNA.

    PubMed Central

    Nicholson, A W; Niebling, K R; McOsker, P L; Robertson, H D

    1988-01-01

    To test the ability of an RNA processing enzyme to cleave chemically-modified RNA substrates, RNA transcripts containing RNase III cleavage sites were enzymatically synthesized in vitro to contain specific phosphorothioate diester internucleotide linkages. One transcript (R1.1 RNA) was generated using phage T7 RNA polymerase and a cloned segment of phage T7 DNA containing the R1.1 RNase III processing site. The second transcript was the phage T7 polycistronic early mRNA precursor, which was synthesized using E. coli RNA polymerase and T7 genomic DNA. The RNA transcripts contained phosphorothioate diester groups at positions including the scissile bonds. The modified RNAs were stable to incubation in Mg2+-containing buffer, and were specifically cleaved by RNase III. RNA oligonucleotide sequence analysis showed that the modified R1.1 RNA processing site was the same as the canonical site and contained a phosphorothioate bond. Furthermore, RNase III cleaved the phosphorothioate internucleotide bond with 5' polarity. RNase III cleavage of phosphorothioate substituted T7 polycistronic early mRNA precursor produced the same gel electrophoretic pattern as that obtained with the control transcript. Thus, RNase III cleavage specificity is not altered by phosphorothioate internucleotide linkages. Images PMID:3279395

  12. Assessment of Cognition and Language in the Early Diagnosis of Autism Spectrum Disorder: Usefulness of the Bayley Scales of Infant and Toddler Development, Third Edition

    ERIC Educational Resources Information Center

    Torras-Mañá, M.; Gómez-Morales, A.; González-Gimeno, I.; Fornieles-Deu, A.; Brun-Gasca, C.

    2016-01-01

    Background: The aim of this study was to test the usefulness of the Cognitive and Language scales Bayley-III in the early assessment of cognitive and language functions in the context of an autism spectrum disorder (ASD) diagnosis. This paper focuses on the application of the Bayley-III and studies the predictive value of the test result in…

  13. The Invisible Dyslexics: How Public School Systems in Baltimore and Elsewhere Discriminate against Poor Children in the Diagnosis and Treatment of Early Reading Difficulties.

    ERIC Educational Resources Information Center

    Hettleman, Kalman R.

    At least 20 percent of students in the Baltimore City Public Schools and other large urban districts are "invisible dyslexics" (children whose academic futures are doomed because their problems in learning to read are diagnosed too late and treated too little or not diagnosed and treated at all). Delay in early diagnosis and treatment…

  14. Ultrasensitive self-powered cytosensors based on exogenous redox-free enzyme biofuel cells as point-of-care tools for early cancer diagnosis.

    PubMed

    Gai, Panpan; Song, Rongbin; Zhu, Cheng; Ji, Yusheng; Wang, Wengjing; Zhang, Jian-Rong; Zhu, Jun-Jie

    2015-12-07

    An exogenous redox-free, membrane-less enzyme biofuel cell-based ultrasensitive self-powered cytosensing platform was fabricated. With the ultrahigh sensitivity and the merits of not requiring external power sources or exogenous reagents, the device has great potential as a point-of-care tool for early diagnosis of cancer in vivo.

  15. Comparative Assessment of Cytokines and Other Inflammatory Markers for the Early Diagnosis of Neonatal Sepsis–A Case Control Study

    PubMed Central

    Prashant, Akila; Vishwanath, Prashant; Kulkarni, Praveen; Sathya Narayana, Prashanth; Gowdara, Vijaykumar; Nataraj, Suma M.; Nagaraj, Rashmi

    2013-01-01

    Objective Cytokines (IL-6, IL-8 and TNF-α), sCD163, and C-reactive protein were serially measured in an attempt to identify a set of tests which can reliably confirm or refute the diagnosis of neonatal sepsis at an early stage. Methods One hundred neonates suspected to have sepsis on clinical grounds and who met the inclusion criteria were enrolled for the study. Based on the positive or negative blood culture reports they were classified as infected (n = 50) and non-infected (n = 50) neonates respectively. Fifty healthy neonates without any signs of sepsis were also included in the study as control group. The initial blood sample was taken on day 0 (at the time of sepsis evaluation) and two further samples were taken on days 1 and 2 for monitoring the clinical progress and response to treatment. In the control group the cord blood and 48 hours venous sample was collected. Plasma CRP (ng/ml), IL-6 (pg/ml), IL-8 (pg/ml), TNF-α (ng/ml) and sCD163 (ng/ml) were determined by double antibody method Enzyme Linked Immunosorbent Assay in all the three blood samples. Results The cut of levels for CRP at >19,689 ng/ml had a sensitivity of 68%, specificity of 92%, for IL-6 at >95.32 pg/ml had a sensitivity of 54%, specificity of 96%, for IL-8 at >70.86 pg/ml had a sensitivity of 78%, specificity of 70%, for sCD163 at >896.78 ng/ml had a sensitivity of 100%, specificity of 88% for the diagnosis of infection before antibiotics. TNF-α levels of >12.6 ng/ml showed 100% sensitivity and 72% specificity for the diagnosis of inflammation. Conclusion The most powerful predictor to differentiate between the non-infected and infected neonates before antibiotics was sCD163. The most powerful indicator for evaluation of prognosis is IL-6. sCD163 can be used alone to screen for sepsis in neonates before the results of blood culture are received. PMID:23869218

  16. Tissue Doppler Imaging Combined with Advanced 12-Lead ECG Analysis Might Improve Early Diagnosis of Hypertrophic Cardiomyopathy in Childhood

    NASA Technical Reports Server (NTRS)

    Femlund, E.; Schlegel, T.; Liuba, P.

    2011-01-01

    Optimization of early diagnosis of childhood hypertrophic cardiomyopathy (HCM) is essential in lowering the risk of HCM complications. Standard echocardiography (ECHO) has shown to be less sensitive in this regard. In this study, we sought to assess whether spatial QRS-T angle deviation, which has shown to predict HCM in adults with high sensitivity, and myocardial Tissue Doppler Imaging (TDI) could be additional tools in early diagnosis of HCM in childhood. Methods: Children and adolescents with familial HCM (n=10, median age 16, range 5-27 years), and without obvious hypertrophy but with heredity for HCM (n=12, median age 16, range 4-25 years, HCM or sudden death with autopsy-verified HCM in greater than or equal to 1 first-degree relative, HCM-risk) were additionally investigated with TDI and advanced 12-lead ECG analysis using Cardiax(Registered trademark) (IMED Co Ltd, Budapest, Hungary and Houston). Spatial QRS-T angle (SA) was derived from Kors regression-related transformation. Healthy age-matched controls (n=21) were also studied. All participants underwent thorough clinical examination. Results: Spatial QRS-T angle (Figure/ Panel A) and septal E/Ea ratio (Figure/Panel B) were most increased in HCM group as compared to the HCM-risk and control groups (p less than 0.05). Of note, these 2 variables showed a trend toward higher levels in HCM-risk group than in control group (p=0.05 for E/Ea and 0.06 for QRS/T by ANOVA). In a logistic regression model, increased SA and septal E/Ea ratio appeared to significantly predict both the disease (Chi-square in HCM group: 9 and 5, respectively, p less than 0.05 for both) and the risk for HCM (Chi-square in HCM-risk group: 5 and 4 respectively, p less than 0.05 for both), with further increased predictability level when these 2 variables were combined (Chi-square 10 in HCM group, and 7 in HCM-risk group, p less than 0.01 for both). Conclusions: In this small material, Tissue Doppler Imaging and spatial mean QRS-T angle

  17. Early Diagnosis of Neuropathy in Leprosy—Comparing Diagnostic Tests in a Large Prospective Study (the INFIR Cohort Study)

    PubMed Central

    van Brakel, Wim H.; Nicholls, Peter G.; Wilder-Smith, Einar P.; Das, Loretta; Barkataki, Pramila; Lockwood, Diana N. J.

    2008-01-01

    Background Leprosy is the most frequent treatable neuromuscular disease. Yet, every year, thousands of patients develop permanent peripheral nerve damage as a result of leprosy. Since early detection and treatment of neuropathy in leprosy has strong preventive potential, we conducted a cohort study to determine which test detects this neuropathy earliest. Methods and Findings One hundred and eighty-eight multibacillary (MB) leprosy patients were selected from a cohort of 303 and followed for 2 years after diagnosis. Nerve function was evaluated at each visit using nerve conduction (NC), quantitative thermal sensory testing and vibrometry, dynamometry, monofilament testing (MFT), and voluntary muscle testing (VMT). Study outcomes were sensory and motor impairment detected by MFT or VMT. Seventy-four of 188 patients (39%) had a reaction, neuritis, or new nerve function impairment (NFI) event during a 2-year follow-up. Sub-clinical neuropathy was extensive (20%–50%), even in patients who did not develop an outcome event. Sensory nerve action potential (SNAP) amplitudes, compound motor action potential (CMAP) velocities, and warm detection thresholds (WDT) were most frequently affected, with SNAP impairment frequencies ranging from 30% (median) to 69% (sural). Velocity was impaired in up to 43% of motor nerves. WDTs were more frequently affected than cold detection thresholds (29% versus 13%, ulnar nerve). Impairment of SNC and warm perception often preceded deterioration in MF or VMT scores by 12 weeks or more. Conclusions A large proportion of leprosy patients have subclinical neuropathy that was not evident when only MFT and VMT were used. SNC was the most frequently and earliest affected test, closely followed by WDT. They are promising tests for improving early detection of neuropathy, as they often became abnormal 12 weeks or more before an abnormal monofilament test. Changes in MFT and VMT score mirrored changes in neurophysiology, confirming their validity as

  18. Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis

    PubMed Central

    Trump, Natalie; McTague, Amy; Brittain, Helen; Papandreou, Apostolos; Meyer, Esther; Ngoh, Adeline; Palmer, Rodger; Morrogh, Deborah; Boustred, Christopher; Hurst, Jane A; Jenkins, Lucy; Kurian, Manju A; Scott, Richard H

    2016-01-01

    Background We sought to investigate the diagnostic yield and mutation spectrum in previously reported genes for early-onset epilepsy and disorders of severe developmental delay. Methods In 400 patients with these disorders with no known underlying aetiology and no major structural brain anomaly, we analysed 46 genes using a combination of targeted sequencing on an Illumina MiSeq platform and targeted, exon-level microarray copy number analysis. Results We identified causative mutations in 71/400 patients (18%). The diagnostic rate was highest among those with seizure onset within the first two months of life (39%), although overall it was similar in those with and without seizures. The most frequently mutated gene was SCN2A (11 patients, 3%). Other recurrently mutated genes included CDKL5, KCNQ2, SCN8A (six patients each), FOXG1, MECP2, SCN1A, STXBP1 (five patients each), KCNT1, PCDH19, TCF4 (three patients each) and ATP1A3, PRRT2 and SLC9A6 (two patients each). Mutations in EHMT1, GABRB3, LGI1, MBD5, PIGA, UBE3A and ZEB2 were each found in single patients. We found mutations in a number of genes in patients where either the electroclinical features or dysmorphic phenotypes were atypical for the identified gene. In only 11 cases (15%) had the clinician sufficient certainty to specify the mutated gene as the likely cause before testing. Conclusions Our data demonstrate the considerable utility of a gene panel approach in the diagnosis of patients with early-onset epilepsy and severe developmental delay disorders., They provide further insights into the phenotypic spectrum and genotype–phenotype correlations for a number of the causative genes and emphasise the value of exon-level copy number testing in their analysis. PMID:26993267