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Sample records for accurate clinical diagnosis

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

    PubMed Central

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

    2016-01-01

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

  2. 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

  3. Postmortem CT is more accurate than clinical diagnosis for identifying the immediate cause of death in hospitalized patients: a prospective autopsy-based study.

    PubMed

    Inai, Kunihiro; Noriki, Sakon; Kinoshita, Kazuyuki; Sakai, Toyohiko; Kimura, Hirohiko; Nishijima, Akihiko; Iwasaki, Hiromichi; Naiki, Hironobu

    2016-07-01

    Despite 75 to 90 % physician accuracy in determining the underlying cause of death, precision of determination of the immediate cause of death is approximately 40 %. In contrast, two thirds of immediate causes of death in hospitalized patients are correctly diagnosed by postmortem computed tomography (CT). Postmortem CT might provide an alternative approach to verifying the immediate cause of death. To evaluate the effectiveness of postmortem CT as an alternative method to determine the immediate cause of death in hospitalized patients, an autopsy-based prospective study was performed. Of 563 deaths from September 2011 to August 2013, 50 consecutive cadavers undergoing hospital autopsies with consent for additional postmortem CT at the University of Fukui were enrolled. The accuracy of determination of the immediate cause of death by postmortem CT was evaluated in these patients. Diagnostic discrepancy was also compared between radiologists and attending physicians. The immediate cause of death was correctly diagnosed in 37 of 50 subjects using postmortem CT (74 %), concerning 29 cases of respiratory failure, 4 of hemorrhage, 3 of liver failure and 1 of septic shock. Six cases of organ failure involving 13 patients were not identified as the cause of death by postmortem CT. Regarding the immediate cause of death, accuracy of clinical diagnosis was significantly lower than that of postmortem CT (46 vs 74 %, P < 0.01). Postmortem CT may be more useful than clinical diagnosis for identifying the immediate cause of death in hospitalized patients not undergoing autopsy. PMID:27085336

  4. Accurate diagnosis of Helicobacter pylori. Other tests.

    PubMed

    Bravos, E D; Gilman, R H

    2000-12-01

    The application of polymerase chain reaction (PCR) with respect to Helicobacter pylori is useful for molecular epidemiologic aspects and detection purposes. The authors address the current detection methods by PCR aimed at detecting H. pylori in clinical samples collected by less invasive methods, such as gastric juice, saliva, dental plaque, and feces. Enzyme immunoassay also is discussed.

  5. [Clinical diagnosis of dyslexia].

    PubMed

    Martínez Hermosillo, A; Balderas Gil, A

    1980-01-01

    In 5 years of experience at the Instituto Nacional de la Comunicacion Humana, 302 clinical histories showed the diagnosis of dyslexia. The following parameters were studied: age, sex, heredofamilial history, gestation, psychomotor development, clinical picture, examination of the language (type, reading, spontaneous writing, dictation, mathematic concepts), laterality, scholarship, scholar failures, psychological study. The following results were obtained: Dyslexia was more important or frequent between 5 to 8.9 years of age. Males predominated 3:1. The heredofamilial history was important. Dyslexia prevailed in products of the first gestations. A high disturbance was found in the psychomotor development of a large percent of dyslexic patients. Examination of language was also important. Dyslexia was more frequent in right-handed patients. Scholar failures in one or more instances were found. The psychological study must be done. If dyslexia is diagnosed on time, it may be prevented and all unwanted sequelae may be avoided.

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

    PubMed

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

    2012-10-01

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

  7. Accurate diagnosis of axillary lymph node metastasis using contrast-enhanced ultrasonography with Sonazoid

    PubMed Central

    MATSUZAWA, FUMIHIKO; EINAMA, TAKAHIRO; ABE, HIRONORI; SUZUKI, TAKASHI; HAMAGUCHI, JUN; KAGA, TERUMI; SATO, MAMI; OOMURA, MASAKO; TAKATA, YUMIKO; FUJIBE, AYAKO; TAKEDA, CHIE; TAMURA, ETSUYA; TAKETOMI, AKINOBU; KYUNO, KENICHI

    2015-01-01

    Axillary lymph node enlargement following sentinel lymph node biopsy (SLNB) is often difficult to accurately diagnose. In keeping with the characteristically tortuous and aberrant pattern of tumor neovasculature, metastatic lymph nodes exhibit peripheral and mixed vascularity, resulting in a microvasculature that is often difficult to visualize. Contrast-enhanced ultrasonography (CEUS) with Sonazoid, a new generation contrast agent for ultrasonography, allows for the visualization of lymph node microvessels and may enable a more accurate evaluation of lymph node metastasis. This is a case report of axillary lymph node enlargement following SLNB, in which CEUS with Sonazoid resulted in an accurate diagnosis. On the basis of our experience with this case, we have initiated a clinical trial to evaluate the detection of lymph node metastasis through the use of CEUS in breast cancer patients. PMID:25798257

  8. [Asperger syndrome. Diagnosis criteria and clinical picture].

    PubMed

    Wahlberg, Ernesto

    2005-01-01

    Asperger syndrome (A.S) is not a very well-known disorder due to its recent incorporation to the international nosography of mental disorders during the early 90s. The intention of this article is to describe the clinical picture with its symptomatic diversity. It will show how the diagnostic criteria were developed since the presentation by Asperger in 1944, to the classification consensed nowadays. It also presents the situations in which this diagnosis is most frequent to facilitate its detection and to permit a more extensive assessment leading to a more accurate treatment. PMID:16077869

  9. Advanced tests for early and accurate diagnosis of Creutzfeldt-Jakob disease.

    PubMed

    Zanusso, Gianluigi; Monaco, Salvatore; Pocchiari, Maurizio; Caughey, Byron

    2016-06-01

    Early and accurate diagnosis of Creutzfeldt-Jakob disease (CJD) is a necessary to distinguish this untreatable disease from treatable rapidly progressive dementias, and to prevent iatrogenic transmission. Currently, definitive diagnosis of CJD requires detection of the abnormally folded, CJD-specific form of protease-resistant prion protein (PrP(CJD)) in brain tissue obtained postmortem or via biopsy; therefore, diagnosis of sporadic CJD in clinical practice is often challenging. Supporting investigations, including MRI, EEG and conventional analyses of cerebrospinal fluid (CSF) biomarkers, are helpful in the diagnostic work-up, but do not allow definitive diagnosis. Recently, novel ultrasensitive seeding assays, based on the amplified detection of PrP(CJD), have improved the diagnostic process; for example, real-time quaking-induced conversion (RT-QuIC) is a sensitive method to detect prion-seeding activity in brain homogenate from humans with any subtype of sporadic CJD. RT-QuIC can also be used for in vivo diagnosis of CJD: its diagnostic sensitivity in detecting PrP(CJD) in CSF samples is 96%, and its specificity is 100%. Recently, we provided evidence that RT-QuIC of olfactory mucosa brushings is a 97% sensitive and 100% specific for sporadic CJD. These assays provide a basis for definitive antemortem diagnosis of prion diseases and, in doing so, improve prospects for reducing the risk of prion transmission. Moreover, they can be used to evaluate outcome measures in therapeutic trials for these as yet untreatable infections. PMID:27174240

  10. Urological diagnosis using clinical PACS

    NASA Astrophysics Data System (ADS)

    Mills, Stephen F.; Spetz, Kevin S.; Dwyer, Samuel J., III

    1995-05-01

    Urological diagnosis using fluoroscopy images has traditionally been performed using radiographic films. Images are generally acquired in conjunction with the application of a contrast agent, processed to create analog films, and inspected to ensure satisfactory image quality prior to being provided to a radiologist for reading. In the case of errors the entire process must be repeated. In addition, the radiologist must then often go to a particular reading room, possibly in a remote part of the healthcare facility, to read the images. The integration of digital fluoroscopy modalities with clinical PACS has the potential to significantly improve the urological diagnosis process by providing high-speed access to images at a variety of locations within a healthcare facility without costly film processing. The PACS additionally provides a cost-effective and reliable means of long-term storage and allows several medical users to simultaneously view the same images at different locations. The installation of a digital data interface between the existing clinically operational PACS at the University of Virginia Health Sciences Center and a digital urology fluoroscope is described. Preliminary user interviews that have been conducted to determine the clinical effectiveness of PACS workstations for urological diagnosis are discussed. The specific suitability of the workstation medium is discussed, as are overall advantages and disadvantages of the hardcopy and softcopy media in terms of efficiency, timeliness and cost. Throughput metrics and some specific parameters of gray-scale viewing stations and the expected system impacts resulting from the integration of a urology fluoroscope with PACS are also discussed.

  11. The Clinical Impact of Accurate Cystine Calculi Characterization Using Dual-Energy Computed Tomography.

    PubMed

    Haley, William E; Ibrahim, El-Sayed H; Qu, Mingliang; Cernigliaro, Joseph G; Goldfarb, David S; McCollough, Cynthia H

    2015-01-01

    Dual-energy computed tomography (DECT) has recently been suggested as the imaging modality of choice for kidney stones due to its ability to provide information on stone composition. Standard postprocessing of the dual-energy images accurately identifies uric acid stones, but not other types. Cystine stones can be identified from DECT images when analyzed with advanced postprocessing. This case report describes clinical implications of accurate diagnosis of cystine stones using DECT.

  12. Accurate Documentation of Malnutrition Diagnosis Reflects Increased Healthcare Resource Utilization.

    PubMed

    Phillips, Wendy

    2015-10-01

    Nutrition support professionals often care for the sickest of hospitalized patients. An understanding of healthcare payment models can help the nutrition support professional know how documentation of nutrition status can ensure maximum resources are available to care for these patients. Medicare is the major funding source for many hospitals in the United States. Hospitals receive payments using the Acute Care Hospital Inpatient Prospective Payment System, which classifies patients into Medical Severity Diagnosis-Related Groups (MS-DRGs) to determine payment amounts. Documentation of comorbidities and complications can increase the payment hospitals receive to offset increased resource utilization. This article explains how malnutrition documentation and coding can influence the case mix index, an indicator of level of acuity of patients treated at the hospital, and the payment the hospital receives to care for the patient.

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

    PubMed

    Low, Y; Hutson, J M

    2003-08-01

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

  14. Barriers to accurate diagnosis and effective management of heart failure in primary care: qualitative study

    PubMed Central

    Fuat, Ahmet; Hungin, A Pali S; Murphy, Jeremy James

    2003-01-01

    Objective To ascertain the beliefs, current practices, and decision making of general practitioners in the diagnosis and management of suspected heart failure in primary care, with a view to identifying barriers to good care. Design A qualitative approach using focus groups with 30 general practitioners from four primary care groups. The sampling strategy was stratified and purposive. The contents of interviews were transcribed and analysed according to the principles of “pragmatic variant” grounded theory. Setting North east England. Results Three categories of difficulties contribute to variations in medical practice and to the reasons why general practitioners experience difficulties in diagnosing and managing heart failure. The first is uncertainty about clinical practice, including lack of confidence in establishing an accurate diagnosis and worries about using angiotensin converting enzyme inhibitors, β blockers, and spironolactone in patients who are often elderly and frail, with comorbidity and polypharmacy. The second is a lack of awareness of relevant research evidence in what was perceived to be a complex and rapidly changing therapeutic field. Doubts about the applicability of research findings in primary care, and fear of information overload also emerged. The third category consists of influences of individual preference and local organisational factors. Medical training, negative clinical experiences, and outside agencies influenced the behaviour of general practitioners and professional culture. Local factors included the availability of diagnostic services, resources (such as accessible cardiologists), and interactions between professionals in primary or secondary care, and they seemed to shape the practice and decision making processes in primary care. Conclusions The national service framework for coronary heart disease stresses that the substandard care of patients with heart failure is unacceptable. This study identified barriers to be

  15. Clinically accurate fetal ECG parameters acquired from maternal abdominal sensors

    PubMed Central

    CLIFFORD, Gari; SAMENI, Reza; WARD, Mr. Jay; ROBINSON, Julian; WOLFBERG, Adam J.

    2011-01-01

    OBJECTIVE To evaluate the accuracy of a novel system for measuring fetal heart rate and ST-segment changes using non-invasive electrodes on the maternal abdomen. STUDY DESIGN Fetal ECGs were recorded using abdominal sensors from 32 term laboring women who had a fetal scalp electrode (FSE) placed for a clinical indication. RESULTS Good quality data for FHR estimation was available in 91.2% of the FSE segments, and 89.9% of the abdominal electrode segments. The root mean square (RMS) error between the FHR data calculated by both methods over all processed segments was 0.36 beats per minute. ST deviation from the isoelectric point ranged from 0 to 14.2% of R-wave amplitude. The RMS error between the ST change calculated by both methods averaged over all processed segments was 3.2%. CONCLUSION FHR and ST change acquired from the maternal abdomen is highly accurate and on average is clinically indistinguishable from FHR and ST change calculated using FSE data. PMID:21514560

  16. Migraine diagnosis and clinical symptomatology.

    PubMed

    Solomon, S

    1994-09-01

    Migraine is a very common phenomenon. Eighteen percent of women in this country and 6% of men have migraine. The old classification for headaches and diagnostic criteria were published in 1962, more than a quarter of a century ago. In 1988, the International Headache Society published a new classification and diagnostic criteria for all headache disorders, cranial neuralgias, and facial pain. The International Headache Society classification divides migraine, as it had been divided in the past, into two major categories: migraine without aura (formerly called common migraine) and migraine with aura (formerly called classical migraine). These criteria are rather complex and simpler criteria are proposed for clinical practice. The typical patient with migraine is a woman whose headaches began in adolescence or young adult life. There usually is a family history of migraine. Migraine is almost always more than just a headache. Virtually anything in the external environment and many things in the internal milieu may provoke migraine in a susceptible individual. There are many potential manifestations of the aura of migraine, but 90% are visual phenomena. Migraine in children is a little different than in adults. When the onset is below the age of puberty, the ratio of females to males is equal, but after puberty there is a striking predominance of women over men in a ratio of 3:1. Whenever the history of migraine is not typical or if something unexpected is found on examination, imaging studies are warranted. PMID:7960727

  17. Orofacial tuberculosis: Clinical manifestations, diagnosis and management

    PubMed Central

    Bansal, Ramta; Jain, Aditya; Mittal, Sunandan

    2015-01-01

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

  18. Idiopathic Pulmonary Fibrosis: Diagnosis and Clinical Manifestations

    PubMed Central

    Nakamura, Yutaro; Suda, Takafumi

    2015-01-01

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

  19. Idiopathic Pulmonary Fibrosis: Diagnosis and Clinical Manifestations

    PubMed Central

    Nakamura, Yutaro; Suda, Takafumi

    2015-01-01

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

  20. Computerized system for clinical diagnosis of melanoma

    NASA Astrophysics Data System (ADS)

    Ferrario, Mario; Barbieri, Fabio

    1991-07-01

    A computerized system was developed to carry out the clinical diagnosis of cutaneous melanoma. The main objective of the system is to produce a real-time first level diagnosis of skin lesion images acquired by a color TV camera. The algorithms are based on research activities started in 1985 at the National Cancer Institute of Milan. Color slides of skin lesions were used as a training field for studying and tuning the image analysis procedures. A prototype system was then developed to capture and analyze skin lesion images on a real-time basis. More than 200 images were acquired and the first level diagnosis output by the system was compared with the diagnosis of expert clinicians. The obtained results were judged very encouraging by the clinicians, and research is in progress to improve and refine the system. The diagnostic procedure is based on image processing and understanding techniques, automatic lesion contour recognition, feature extraction (feature components derived from lesion shape, color and texture) and computation of a malignancy index. The malignancy index depends on the lesion feature values and a thesaurus collecting the system knowledge; the histologic results of clinically diagnosed malignant lesions are used to upgrade the system knowledge.

  1. Clinical Manifestations and Diagnosis of Acromegaly

    PubMed Central

    Lugo, Gloria; Pena, Lara; Cordido, Fernando

    2012-01-01

    Acromegaly and gigantism are due to excess GH production, usually as a result of a pituitary adenoma. The incidence of acromegaly is 5 cases per million per year and the prevalence is 60 cases per million. Clinical manifestations in each patient depend on the levels of GH and IGF-I, age, tumor size, and the delay in diagnosis. Manifestations of acromegaly are varied and include acral and soft tissue overgrowth, joint pain, diabetes mellitus, hypertension, and heart and respiratory failure. Acromegaly is a disabling disease that is associated with increased morbidity and reduced life expectancy. The diagnosis is based primarily on clinical features and confirmed by measuring GH levels after oral glucose loading and the estimation of IGF-I. It has been suggested that the rate of mortality in patients with acromegaly is correlated with the degree of control of GH. Adequately treated, the relative mortality risk can be markedly reduced towards normal. PMID:22518126

  2. Clinical manifestations and diagnosis of acromegaly.

    PubMed

    Lugo, Gloria; Pena, Lara; Cordido, Fernando

    2012-01-01

    Acromegaly and gigantism are due to excess GH production, usually as a result of a pituitary adenoma. The incidence of acromegaly is 5 cases per million per year and the prevalence is 60 cases per million. Clinical manifestations in each patient depend on the levels of GH and IGF-I, age, tumor size, and the delay in diagnosis. Manifestations of acromegaly are varied and include acral and soft tissue overgrowth, joint pain, diabetes mellitus, hypertension, and heart and respiratory failure. Acromegaly is a disabling disease that is associated with increased morbidity and reduced life expectancy. The diagnosis is based primarily on clinical features and confirmed by measuring GH levels after oral glucose loading and the estimation of IGF-I. It has been suggested that the rate of mortality in patients with acromegaly is correlated with the degree of control of GH. Adequately treated, the relative mortality risk can be markedly reduced towards normal. PMID:22518126

  3. Clinical and laboratory diagnosis of influenza.

    PubMed

    Rodrigo, Carlos; Méndez, Maria

    2012-01-01

    The clinical diagnosis of influenza can be very difficult or rather easy depending on the circumstances. It's easy when the epidemiological context is appropriate; the patient is a school kid or a teenager, and the symptoms are typical. On the other hand, it is hard when it fails to match any of the above premises, the more imformation that is missing, the more difficult it becomes. The symptomatology is correlated with age; therefore, typical clinical manifestations are only referred from 3-4 y old: rhinitis, fever with or without chills, cough, headache, joint and muscle pain and malaise. The patient often says he/she "feels sick" but his/her general condition is not at all serious. A rapid influenza diagnosis has been shown to reduce unnecessary test and antibiotics in pediatric patients and allows rational use of antivirals, early discharge from emergency departments and hospital wards, appropriate infection control measures and cohorting of infected patients. Tests that yield results in a timely manner that can influence clinical management are recommended to guide patient care. Results of testing should take into account the a priori likelihood of influenza infection based on the patient's signs and symptoms, the sensitivity and specificity of the test used, and information on circulation of influenza in the community. Failing to use the option of microbiological diagnosis when appropriate is a missed opportunity that can generate anxiety without justification, avoid unnecessarily antibiotics, omit antiviral therapy when convenient, and a teaching possibility. PMID:22251993

  4. Incidental Diagnosis in Healthy Clinical Trial Subjects

    PubMed Central

    Duncan, Christopher JA; Rowland, Rosalind; Lillie, Patrick J; Meyer, Joel; Sheehy, Susanne H; O'Hara, Geraldine A; Hamill, Matthew; Donaldson, Hannah; Dinsmore, Laura; Poulton, Ian D; Gilbert, Sarah C; McShane, Helen; Hill, Adrian VS

    2012-01-01

    Previously unrecognized medical conditions identified in volunteers for early phase clinical studies have significant clinical and ethical implications for the participant. It is therefore crucial that the potential for unexpected diagnosis is addressed during the informed consent process. But the frequency of incidental diagnosis in healthy volunteers who attend for clinical trial screening remains unclear. To assess this we retrospectively analyzed 1,131 independent screening visits for 990 volunteers at a single academic center over a 10-year period to describe the frequency and nature of new clinical findings. Overall 23 of 990 volunteers (2.3%) were excluded at screening for a newly diagnosed medical abnormality. Some clinically important conditions, such as nephrotic syndrome and familial hypercholesterolemia were identified. The frequency of abnormalities was associated with increasing age in males (p = 0.02 χ2 for trend) but not females (p = 0.82). These data will assist those planning and conducting phase I/II vaccine trials in healthy volunteers, and importantly should strengthen the informed consent of future trial participants. Clin Trans Sci 2012; Volume 5: 348–350 PMID:22883613

  5. [Chronic cholecystitis and its clinical masks: diagnosis and differential diagnosis].

    PubMed

    Tsimmerman, Ia S

    2006-01-01

    The author adduces modern data on the ethiology and pathogenesis of chronic cholecystitis and the stages of the development of biliary pathology (motorotonic disturbances of the gall bladder and the sphincter apparatus of the extrahepatic biliary tract - chronic acalculous cholecystitis - chronic calculous cholecystitis). He considers in detail the methods of diagnostics of chronic cholecystitis paying special attention to clinical (non-instrumental) methods. The author offers an original classification of physical symptoms of chronic cholecystitis, distinguishing three groups of symptoms according to their pathogenesis and clinical significance: segmentary reflectory symptoms ("exacerbation symptoms"); reflectory symptoms, localized in the right half of the body outside the segments of hepatobiliary system innervation ("severity symptoms"); irritative symptoms, observed during all the periods of chronic cholecystitis. The article contains a description of various clinical "masks" of chronic cholecystitis, which make the diagnosis more difficult: cardial, duodenal (gastrointestinal), rheumatic, solaralgic, allergic, pre-menstrual tension, and other masks, as well as a description of their differential diagnostic methods. PMID:16827271

  6. Clinical diagnosis of hyposalivation in hospitalized patients

    PubMed Central

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

    2012-01-01

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

  7. Primary leiomyoma of the liver: accurate preoperative diagnosis on liver biopsy

    PubMed Central

    Sousa, Helena T; Portela, Francisco; Semedo, Luis; Furtado, Emanuel; Marinho, Carol; Cipriano, Maria A; Leitão, Maximino C

    2009-01-01

    Primary leiomyoma of the liver is an exceptionally rare tumour in non-immunocompromised patients. Preoperative diagnosis of the lesion is difficult as complete imaging of this type of lesion is scarcely defined and preoperative biopsy was not the practice in previously reported cases. We report a voluminous primary leiomyoma of the liver occurring in a healthy middle-aged woman where a preoperative diagnosis was accurately achieved on biopsy. Because of its size, surgery was undertaken for exclusion of malignancy. A 16-month uneventful follow-up has been completed. We discuss the advantage of a preoperative diagnosis and propose that an imaging-guided liver biopsy should be undertaken, provided malignancy features are absent. This could prevent liver surgery merely for diagnostic purposes. Finally, we report imaging features that have not been previously described, namely on magnetic resonance imaging, which may provide an insight about the nature of this particular lesion and, advantageously, contribute toward a non-invasive diagnosis. PMID:21686574

  8. [Clinical diagnosis and treatment of allergic pharyngitis].

    PubMed

    Liu, Jinfeng; Yan, Zhanfeng; Zhang, Mingxia

    2015-08-01

    Although the concept of united airway disease has been widely accepted, most scholars emphasize only the effect of rhino-sinusitis while ignoring the pharyngeal factors to the lower airway, especially to the allergic pharyngitis (AP), which still lacks enough awareness. First of all, absence of unified diagnostic standard leads to the lack of epidemiological data, which, results in doctors' personal experience but no guideline in treatments. In addition, it is still not clear that the role of AP in the allergic airway diseases and its relationship with asthma. However, the number of patients with AP has been increasing obviously in daily clinic practice. Combined with the previous observation, this paper does a systematic review about the clinical problems of AP, expecting to give a hand to the clinical diagnosis and treatment of AP. PMID:26685417

  9. Clinical manifestations and diagnosis of fibromyalgia.

    PubMed

    Bennett, Robert M

    2009-05-01

    Since the publication of the American College of Rheumatology Classification Criteria for Fibromyalgia 18 years ago, there have been an ever-increasing number of research articles and reviews. From the National Library of Medicine alone there are more than 10,000 articles related to fibromyalgia. The major clinical manifestations of fibromyalgia have not changed, but their prevalence, associations, relative importance to the patient, and scientific underpinnings are increasingly better understood. This article provides an update on fibromyalgia symptomatology and looks at issues that need to be considered in the development of updated diagnostic guidelines. There is still no gold standard for making a diagnosis of fibromyalgia, but there is an increasing consensus for the development of new guidelines for diagnosis that modifies the currently proscribed tender point evaluation.

  10. [Disseminated intravascular coagulation: clinical and biological diagnosis].

    PubMed

    Touaoussa, Aziz; El Youssi, Hind; El Hassani, Imane; Hanouf, Daham; El Bergui, Imane; Zoulati, Ghizlane; Amrani Hassani, Moncef

    2015-01-01

    Disseminated intravascular coagulation (DIC) is a syndrome characterized by the systemic activation of blood coagulation. Its pathophysiological mechanisms are complex and dependent on the underlying pathology, making the clinical and biological expression of quite variable DIC. Among the various biological parameters disrupted, most are not specific, and none of them allows in itself to make the diagnosis. All this does not facilitate the task of the practitioner for diagnosis of overt DIC, much less that of the non-overt DIC, early stage whose treatment would improve the prognosis. These considerations have led to develop scores, combining several parameters depending on their availability in daily practice, as well as their diagnostic relevance. Of all the scores, the ISTH (International society of thrombosis and hemostasis) remains the most used.

  11. [Mucopolysaccharidosis: clinical features, diagnosis and management].

    PubMed

    Suarez-Guerrero, Jorge Luis; Gómez Higuera, Pedro José Iván; Arias Flórez, Juan Sebastian; Contreras-García, Gustavo Adolfo

    2016-01-01

    The mucopolysaccharidoses (MPS) are a group of rare (orphan) diseases, characterised by a deficiency of enzymes involved in the metabolism of glycosaminoglycans (GAGs) at lysosomal level. When there is a deficiency of a particular enzyme there is an accumulation of GAGs in the cells resulting in progressive cellular damage, which can affect multiple organ systems and lead to organ failure. Diagnosis is based on knowledge of the clinical manifestations, performing biochemical analyses to identify the type of GAG that is accumulating, and confirm the type of disorder with the corresponding enzymatic determination. Their identification is essential to initiate early treatment, taking into account that multidisciplinary management and enzyme replacement therapy is available for MPS I (Hurler syndrome), MPS II (Hunter syndrome), MPS IV (Morquio syndrome), and MPS VI (Maroteaux-Lamy syndrome. In this review, an analysis is made of each of these syndromes, as well as their diagnosis and treatment.

  12. 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.

  13. Probabilistic and fuzzy logic in clinical diagnosis.

    PubMed

    Licata, G

    2007-06-01

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

  14. Kallmann's syndrome: clues to clinical diagnosis.

    PubMed

    John, H; Schmid, C

    2000-04-01

    Hypogonadotropic patients may visit pediatricians, general practitioners, endocrinologists or urologists, presenting with microphallus, cryptochidism or pubertas tarda and delayed bone maturation. Congenital hypogonadotropic hypogonadism is characterized, apart from small testes, by the constellation of low serum levels of testosterone, LH and FSH. Kallman's syndrome is characterized by congenital hypogonadotropic hypogonadism with midline defects such as anosmia (a deficiency of the sense of smell). The first case report dates back to 1856, and genetic defects causing the syndrome have been recently described. The diagnosis can be clinically suspected and is established by confirming hormonal studies. PMID:11052640

  15. Delusional infestations: clinical presentation, diagnosis and treatment.

    PubMed

    Heller, Misha M; Wong, Jillian W; Lee, Eric S; Ladizinski, Barry; Grau, Manuel; Howard, Josephine L; Berger, Timothy G; Koo, John Y M; Murase, Jenny E

    2013-07-01

    Patients with delusional infestations (DI), previously named delusions of parasitosis, have a fixed, false belief that they are infested with living or non-living pathogens. Patients have abnormal cutaneous symptoms such as itching, biting, or crawling sensations. They often demonstrate self-destructive behavior in an effort to rid the pathogens from under their skin, leading to excoriations, ulcerations, and serious secondary infections. This review article aims to provide an overview of DI including its clinical presentation, diagnosis, and treatment. Strategies on how to establish a strong therapeutic alliance with DI patients are discussed. In addition, antipsychotic medications used in the treatment of DI are described.

  16. [Cardiac sarcoidosis - clinical manifestation and diagnosis].

    PubMed

    Błaut-Jurkowska, Justyna; Podolec, Piotr; Olszowska, Maria

    2016-08-01

    Sarcoidosis is a multisystem inflammatory disease defined histologically by the formation of noncaseating granulomas. The etiology of sarcoidosis remains unknown. Heart involvement in the course of sarcoidosis concerns about 5% of patients. The most common manifestation of cardiac sarcoidosis are conduction abnormalities, arrhythmias and heart failure. The diagnostic algorithm includes performing a clinical history, a 12-lead electrocardiogram (ECG) and an echocardiogram. If any of the initial screening investigations yields an abnormality, diagnostics should be continue using advanced imaging techniques: cardiovascular magnetic resonance (CMR) or fluorodeoxyglucose positron emission tomography (FDG-PET). Nowadays endomyocardial biopsy is not performed routinely.The clinical picture of cardiac sarcoidosis is highly variable. Screening for cardiac sarcoidosis should be performed in all patients diagnosed with extracardiac sarcoidosis. Cardiac sarcoidosis should also be suspected in young patients without a diagnosis of sarcoidosis who present with conduction abnormalities of unknown etiology, because cardiac sarcoidosis may be the first or the only manifestation of the disease. PMID:27591449

  17. [Cardiac sarcoidosis - clinical manifestation and diagnosis].

    PubMed

    Błaut-Jurkowska, Justyna; Podolec, Piotr; Olszowska, Maria

    2016-07-01

    Sarcoidosis is a multisystem inflammatory disease defined histologically by the formation of noncaseating granulomas. The etiology of sarcoidosis remains unknown. Heart involvement in the course of sarcoidosis concerns about 5% of patients. The most common manifestation of cardiac sarcoidosis are conduction abnormalities, arrhythmias and heart failure. The diagnostic algorithm includes performing a clinical history, a 12-lead electrocardiogram (ECG) and an echocardiogram. If any of the initial screening investigations yields an abnormality, diagnostics should be continue using advanced imaging techniques: cardiovascular magnetic resonance (CMR) or fluorodeoxyglucose positron emission tomography (FDG-PET). Nowadays endomyocardial biopsy is not performed routinely.The clinical picture of cardiac sarcoidosis is highly variable. Screening for cardiac sarcoidosis should be performed in all patients diagnosed with extracardiac sarcoidosis. Cardiac sarcoidosis should also be suspected in young patients without a diagnosis of sarcoidosis who present with conduction abnormalities of unknown etiology, because cardiac sarcoidosis may be the first or the only manifestation of the disease. PMID:27590654

  18. The balance beam metaphor: a perspective on clinical diagnosis.

    PubMed

    Hamm, Robert M; Beasley, William Howard

    2014-10-01

    Understanding the impact of clinical findings in discriminating between possible causes of a patient's presentation is essential in clinical judgment. A balance beam is a natural physical analogue that can accurately represent the combination of several pieces of evidence with varying ability to discriminate between disease hypotheses. Calculation of Bayes' theorem using log(posterior odds) as a function of log(prior odds) and the logarithms of the evidence's likelihood ratios maps onto the physical forces affecting objects placed on a balance beam. We describe the rules governing the functioning of tokens representing clinical findings in the comparison of 2 competing diseases. The likelihood ratios corresponding to positive (LR+) or negative (LR-) observations for each symptom determine the lateral position at which the symptom's token is placed on the beam, using a weight if the finding is present and a helium balloon if it is absent. We discuss how a balance beam could represent concepts of dynamic specificity (due to changes in competitor diseases' probabilities) and dynamic sensitivity (due to class-conditional independence). Utility-based thresholds for acting on a diagnosis could be represented by moving the balance beam's fulcrum. It is suggested that a balance beam can be a useful aid for students learning clinical diagnosis, allowing them to build on existing intuitive understanding to develop an appreciation of how evidence combines to influence degree of belief. The balance beam could also facilitate exploration of the potential impact of available questions or investigations.

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

    PubMed

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

    2014-07-01

    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.

  20. 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

  1. 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. PMID:25815362

  2. 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

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

    PubMed

    Hey, Spencer Phillips

    2015-07-01

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

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

    PubMed

    Hey, Spencer Phillips

    2015-07-01

    All major research ethics policies assert that the ethical review of clinical trial protocols should include a systematic assessment of risks and benefits. But despite this policy, protocols do not typically contain explicit probability statements about the likely risks or benefits involved in the proposed research. In this essay, I articulate a range of ethical and epistemic advantages that explicit forecasting would offer to the health research enterprise. I then consider how some particular confidence levels may come into conflict with the principles of ethical research. PMID:25249375

  5. Clinical manifestations, diagnosis, and treatment of neurocysticercosis.

    PubMed

    Sotelo, Julio

    2011-12-01

    Neurocysticercosis (NCC) is the most frequent parasitic disease of the human brain. Modern imaging studies, CT and MRI, have defined the diagnosis and characterization of the disease. Through these studies the therapeutic approach for each case may be individualized with the aid of antihelmintics, steroids, symptomatic medicines, or surgery. The use of one or various therapeutic measures largely depends on the peculiar combination of number, location, and biological stage of lesions as well as the degree of inflammatory response to the parasites. Although there is not a typical clinical picture of NCC, epilepsy is the most frequent manifestation of parenchymal NCC, whereas hydrocephalus is the most frequent manifestation of meningeal NCC. Eradication of cysticercosis is an attainable goal by public education and sanitary improvement in endemic areas.

  6. Autoimmune encephalitis: Clinical diagnosis versus antibody confirmation

    PubMed Central

    Cyril, Asha Caroline; Nair, Sruthi S.; Mathai, Annamma; Kannoth, Sudheeran; Thomas, Sanjeev V.

    2015-01-01

    Context: Autoimmune encephalitis is a heterogeneous disorder which is being diagnosed with increasing frequency. The diagnosis of these disorders is based on the detection of autoantibodies and characteristic clinical profiles. Aims: We aimed to study the antibody profile in encephalitis patients with suspected autoimmune etiology presenting to a tertiary care center. Settings and Design: The subjects were selected by screening all patients with clinical profile suggesting autoimmune encephalitis admitted in the neuromedical intensive care unit (ICU) of a tertiary care center in South India. Materials and Methods: Patients who fulfilled modified Zuliani et al.'s, criteria for autoimmune encephalitis were identified during the period December 2009–June 2013. Blood samples from these subjects were screened for six neuronal antibodies. Statistical analysis used: Chi-square test was applied to compare the antibody positive and negative patients. Results: Out of 1,227 patients screened, 39 subjects (14 males: 25 females) were identified with a mean age of 15.95 years and 19 cases were assessed in the acute and 20 in the convalescent phase of the illness. Seizure (87.8 %) was the most common presenting symptom; status epilepticus occurred in 23 (60.5%) patients during the course of the illness. Fourteen (35.9%) patients were N-methyl-D-aspartate receptor (NMDAR) antibody-positive and all were negative for the other antibodies tested. Conclusions: One-third of patients presenting with acute noninfective encephalitis would be positive for NMDAR antibodies with the remaining two-thirds with clinically suspected autoimmune encephalitis being antibody-negative. There are few markers in the clinical and investigative profiles to distinguish antibody-positive and -negative patients. PMID:26713011

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

    PubMed Central

    Cohen, Trevor; Blatter, Brett; Patel, Vimla

    2008-01-01

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

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

    PubMed

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

    2013-04-01

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

  9. Barrett's oesophagus: epidemiology, diagnosis and clinical management.

    PubMed

    Whiteman, David C; Kendall, Bradley J

    2016-10-01

    Barrett's oesophagus is a condition characterised by partial replacement of the normal squamous epithelium of the lower oesophagus by a metaplastic columnar epithelium containing goblet cells (intestinal metaplasia). Barrett's oesophagus is important clinically because those afflicted are predisposed to oesophageal adenocarcinoma. Prevalence surveys suggest that up to 2% of the population may be affected; most will be unaware of their diagnosis. Risk factors include age, male sex, gastro-oesophageal acid reflux, central obesity and smoking. Helicobacter pylori infection confers a reduced risk of Barrett's oesophagus. Risks of cancer progression are lower than originally reported and are now estimated at 1-3 per 1000 patient-years for patients with non-dysplastic Barrett's oesophagus. Progression rates are higher for patients with long segment (≥ 3 cm) and dysplastic Barrett's oesophagus. Australian guidelines have been developed to aid practitioners in managing patients with Barrett's oesophagus and early oesophageal adenocarcinoma. While generalised population screening for Barrett's oesophagus is not recommended, endoscopic surveillance of patients with confirmed Barrett's oesophagus is recommended, with surveillance intervals dependent on segment length and presence of dysplasia. New techniques such as endoscopic mucosal resection and endoscopic radiofrequency ablation are now available to treat patients with dysplasia and early oesophageal adenocarcinoma. New screening and surveillance technologies are currently under investigation; these may prove cost-effective in identifying and managing patients in the community. PMID:27681974

  10. Brain SPECT quantitation in clinical diagnosis

    SciTech Connect

    Hellman, R.S.

    1991-12-31

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

  11. [Narcolepsy: etiology, clinical features, diagnosis and treatment].

    PubMed

    Zawilska, Jolanta B; Woldan-Tambor, Agata; Płocka, Anna; Kużajska, Katarzyna; Wojcieszak, Jakub

    2012-01-01

     Narcolepsy is a chronic hypersomnia characterized by excessive daytime sleepiness (EDS) and manifestations of disrupted rapid eye movement sleep stage (cataplexy, sleep paralysis, and hypnagogic/hypnopompic hallucinations). Mechanisms underlying narcolepsy are not fully understood. Experimental data indicate that the disease is caused by a loss of hypocretin neurons in the hypothalamus, likely due to an autoimmune process triggered by environmental factors in susceptible individuals. Most patients with narcolepsy and cataplexy have very low hypocretin-1 levels in the cerebrospinal fluid. An appropriate clinical history, polysomnogram, and multiple sleep latency test are necessary for diagnosis of the disease. Additionally, two biological markers, i.e., cerebrospinal fluid hypocretin-1 levels and expression of the DQB1*0602 gene, are used. The treatment of narcolepsy is aimed at the different symptoms that the patient manifests. Excessive daytime sleepiness is treated with psychostimulants (amphetamine-like, modafinil and armodafinil). Cataplexy is treated with sodium oxybate (GHB), tricyclic antidepressants, or selective serotonin and noradrenaline reuptake inhibitors. Sleep paralysis, hallucinations, and fragmented sleep may be treated with sodium oxybate. Patients with narcolepsy should follow proper sleep hygiene and avoid strong emotions. PMID:23175331

  12. Barrett's oesophagus: epidemiology, diagnosis and clinical management.

    PubMed

    Whiteman, David C; Kendall, Bradley J

    2016-10-01

    Barrett's oesophagus is a condition characterised by partial replacement of the normal squamous epithelium of the lower oesophagus by a metaplastic columnar epithelium containing goblet cells (intestinal metaplasia). Barrett's oesophagus is important clinically because those afflicted are predisposed to oesophageal adenocarcinoma. Prevalence surveys suggest that up to 2% of the population may be affected; most will be unaware of their diagnosis. Risk factors include age, male sex, gastro-oesophageal acid reflux, central obesity and smoking. Helicobacter pylori infection confers a reduced risk of Barrett's oesophagus. Risks of cancer progression are lower than originally reported and are now estimated at 1-3 per 1000 patient-years for patients with non-dysplastic Barrett's oesophagus. Progression rates are higher for patients with long segment (≥ 3 cm) and dysplastic Barrett's oesophagus. Australian guidelines have been developed to aid practitioners in managing patients with Barrett's oesophagus and early oesophageal adenocarcinoma. While generalised population screening for Barrett's oesophagus is not recommended, endoscopic surveillance of patients with confirmed Barrett's oesophagus is recommended, with surveillance intervals dependent on segment length and presence of dysplasia. New techniques such as endoscopic mucosal resection and endoscopic radiofrequency ablation are now available to treat patients with dysplasia and early oesophageal adenocarcinoma. New screening and surveillance technologies are currently under investigation; these may prove cost-effective in identifying and managing patients in the community.

  13. 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.

  14. [How important is the clinical context for a histopathological diagnosis?].

    PubMed

    Bosman, Fred T

    2005-11-30

    A histopathological examination consists of two distinct phases: observation and interpretation. As a rule, macro- and microscopical examination give strong diagnostic indicators and the diagnosis is made instantaneously: the two phases are strongly interwoven. Also, the clinical context often provides essential clues as to the final diagnosis. A request for a pathology examination must hence come with clinical informations and a specific question. Yet, the pathologist has to keep in mind that the interpretation of what he sees might follow too enthusiastically the proposed clinical diagnosis. It is hence preferable for the pathologist to take note of the clinical context only after the microscopic examination has been accomplished.

  15. Pedobarography in Diagnosis and Clinical Application

    PubMed Central

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

    2014-01-01

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

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

    PubMed

    Killeen, Kathryn; Skora, Elizabeth

    2013-03-01

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

  17. Clinical features and genetic diagnosis of hereditary spinocerebellar ataxia 3.

    PubMed

    Wang, Yaoguang; Yang, Xiaokai; Ma, Weide; Li, Jinxin; Zhang, Qingyuan; Xia, Shuqi; Wang, Hai; Zhang, Chenghui; Xu, Xiaomin; Zheng, Jiayong

    2016-10-01

    Spinocerebellar ataxia type 3 (SCA3) is a rare inherited autosomal dominant progressive neurological disorder, which results from a CAG‑repeat expansion in the gene encoding the deubiquitinating enzyme, ataxin‑3. At present, no effective treatment is available for this fatal disorder; however, certain studies have suggested that reducing the levels of mutant ataxin‑3 protein may reverse or halt the progression of disease in patients with SCA3. In the present study, clinical examinations were performed on a patient with SCA3 who exhibited disease features including coughing, expectoration and was bedridden with mobility limitation. CAG repetitions at SCA‑associated genes were detected in the patient's family by performing standard polymerase chain reaction (PCR) and triple‑repeat primed PCR. The numbers of CAG‑repeats within the two alleles of the gene of interest in the patient were 15 and 78. Notably, the patient's brother, who harbored 76 CAG‑repeats in one allele of the gene of interest, did not exhibit severe disease symptoms. These results suggest that the number of CAG‑repeats is a critical for determination of SCA3 disease severity and time of onset. In addition, the defined phenotypic characteristics of the patient in the present study provide useful insight for more accurate clinical diagnosis and genotyping of future patients. PMID:27600091

  18. 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…

  19. TROP-2 immunohistochemistry: a highly accurate method in the differential diagnosis of papillary thyroid carcinoma.

    PubMed

    Bychkov, Andrey; Sampatanukul, Pichet; Shuangshoti, Shanop; Keelawat, Somboon

    2016-08-01

    We aimed to evaluate the diagnostic utility of the novel immunohistochemical marker TROP-2 on thyroid specimens (226 tumours and 207 controls). Whole slide immunohistochemistry was performed and scored by automated digital image analysis. Non-neoplastic thyroid, follicular adenomas, follicular carcinomas, and medullary carcinomas were negative for TROP-2 immunostaining. The majority of papillary thyroid carcinoma (PTC) specimens (94/114, 82.5%) were positive for TROP-2; however, the pattern of staining differed significantly between the histopathological variants. All papillary microcarcinomas (mPTC), PTC classic variant (PTC cv), and tall cell variant (PTC tcv) were TROP-2 positive, with mainly diffuse staining. In contrast, less than half of the PTC follicular variant specimens were positive for TROP-2, with only focal immunoreactivity. TROP-2 could identify PTC cv with 98.1% sensitivity and 97.5% specificity. ROC curve analysis found that the presence of >10% of TROP-2 positive cells in a tumour supported a diagnosis of PTC. The study of intratumoural heterogeneity showed that low-volume cytological samples of PTC cv could be adequately assessed by TROP-2 immunostaining. The TROP-2 H-score (intensity multiplied by proportion) was significantly associated with PTC variant and capsular invasion in encapsulated PTC follicular variant (p<0.001). None of the baseline (age, gender) and clinical (tumour size, nodal disease, stage) parameters were correlated with TROP-2 expression. In conclusion, TROP-2 membranous staining is a very sensitive and specific marker for PTC cv, PTC tcv, and mPTC, with high overall specificity for PTC. PMID:27311870

  20. Superficial mucoceles: pitfall in clinical and microscopic diagnosis.

    PubMed

    Eveson, J W

    1988-09-01

    Extravasation mucoceles can be so superficial that they are seen as subepithelial blisters. These may rupture and cause superficial painful ulcers, which usually heal quickly. Occasionally such lesions may be seen in association with other mucosal disorders, particularly lichen planus, and a biopsy is undertaken to establish the diagnosis. In addition, the reporting pathologist may make an erroneous diagnosis of a subepithelial vesiculating disorder such as mucous membrane pemphigoid, especially when the clinical history is vague. Eight cases are described that illustrate some of the pitfalls in clinical and microscopical diagnosis of superficial mucoceles.

  1. Lactose intolerance: diagnosis, genetic, and clinical factors.

    PubMed

    Mattar, Rejane; de Campos Mazo, Daniel Ferraz; Carrilho, Flair José

    2012-01-01

    Most people are born with the ability to digest lactose, the major carbohydrate in milk and the main source of nutrition until weaning. Approximately 75% of the world's population loses this ability at some point, while others can digest lactose into adulthood. This review discusses the lactase-persistence alleles that have arisen in different populations around the world, diagnosis of lactose intolerance, and its symptomatology and management. PMID:22826639

  2. Lactose intolerance: diagnosis, genetic, and clinical factors

    PubMed Central

    Mattar, Rejane; de Campos Mazo, Daniel Ferraz; Carrilho, Flair José

    2012-01-01

    Most people are born with the ability to digest lactose, the major carbohydrate in milk and the main source of nutrition until weaning. Approximately 75% of the world’s population loses this ability at some point, while others can digest lactose into adulthood. This review discusses the lactase-persistence alleles that have arisen in different populations around the world, diagnosis of lactose intolerance, and its symptomatology and management. PMID:22826639

  3. 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

  4. [Clinical diagnosis progress and continuing medical education].

    PubMed

    Mukhin, N A; Svistunov, A A; Fomin, V V

    2014-01-01

    The paper discusses current approaches to diagnosing in an internal medicine clinic and to improving diagnostic tactics. It gives prospects for training physicians in current diagnostic approaches in the framework of the continuing medical education system.

  5. [Food allergy: definition, diagnosis, epidemiology, clinical aspects].

    PubMed

    Wüthrich, B

    1996-05-01

    Contrary to the lay and media perception, adverse reactions to foods (and food additives) occur less often than believed by the patients. The term food intolerance (FI) is widely misused as a cause of all sorts of symptoms and diseases. This diagnosis is often based on "alternative" techniques. Food allergy (FA) is the correct diagnosis if the symptoms resulting from the ingestion of a food (or an ingredient) are due to an immune mechanism. This diagnosis is seldom difficult in the case of a severe reaction immediately after ingestion of the food and when skin prick tests and/or IgE antibodies to the incriminated food are clearly positive. However, the best way to establish FA/FI is-apart from exclusion from the diet, which tends to have a marked placebo effect-the performance of proper double-blind, placebo-controlled food challenges (DBPCFC). Evidently, there are difficulties in conducting studies of this nature in a large population sample, and so far only three prevalence studies in Dutch and English adults have been based on DBPCFC. The reported prevalences of FA/FI (questionnaire answers) were 12% to 19%, whereas the confirmed prevalences varied from 0.8% to 2.4%. For additive intolerance the prevalence varied between 0.01 to 0.23%. The consequences of mistaken perception of FA/FI, which can have a major social impact in financial and health terms, require an information campaign for doctors, lay and media in connection with these problems.

  6. Diaper dermatitis: clinical characteristics and differential diagnosis.

    PubMed

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

    2014-11-01

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

  7. Systemic mastocytosis: clinical manifestations and differential diagnosis.

    PubMed

    Butterfield, Joseph H

    2006-08-01

    Mast cells produce symptoms by local and remote effects of mediator release and by their presence in increased numbers in normal tissue and bone marrow, where they damage and impair normal organ function. Moreover, mast cells are long-lived and heterogeneous in their response to secretagogues and to inhibitors of mediator release. Clinicians sorting out the diagnosis of SM on the basis of presenting signs and symptoms continue to have their diagnostic skills challenged because of the rarity of this disorder, the fact that many symptoms of SM are present in more common disorders, and the multiple guises that SM may assume at the time of presentation.

  8. [Clinical importance and diagnosis of halitosis].

    PubMed

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

    2012-09-01

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

  9. Opportunistic invasive fungal infections: diagnosis & clinical management

    PubMed Central

    Badiee, Parisa; Hashemizadeh, Zahra

    2014-01-01

    Invasive fungal infections are a significant health problem in immunocompromised patients. The clinical manifestations vary and can range from colonization in allergic bronchopulmonary disease to active infection in local aetiologic agents. Many factors influence the virulence and pathogenic capacity of the microorganisms, such as enzymes including extracellular phospholipases, lipases and proteinases, dimorphic growth in some Candida species, melanin production, mannitol secretion, superoxide dismutase, rapid growth and affinity to the blood stream, heat tolerance and toxin production. Infection is confirmed when histopathologic examination with special stains demonstrates fungal tissue involvement or when the aetiologic agent is isolated from sterile clinical specimens by culture. Both acquired and congenital immunodeficiency may be associated with increased susceptibility to systemic infections. Fungal infection is difficult to treat because antifungal therapy for Candida infections is still controversial and based on clinical grounds, and for molds, the clinician must assume that the species isolated from the culture medium is the pathogen. Timely initiation of antifungal treatment is a critical component affecting the outcome. Disseminated infection requires the use of systemic agents with or without surgical debridement, and in some cases immunotherapy is also advisable. Preclinical and clinical studies have shown an association between drug dose and treatment outcome. Drug dose monitoring is necessary to ensure that therapeutic levels are achieved for optimal clinical efficacy. The objectives of this review are to discuss opportunistic fungal infections, diagnostic methods and the management of these infections. PMID:24718393

  10. Clinical Application of Antenatal Genetic Diagnosis of Osteogenesis Imperfecta Type IV

    PubMed Central

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

    2015-01-01

    Background Clinical analysis and genetic testing of a family with osteogenesis imperfecta type IV were conducted, aiming to discuss antenatal genetic diagnosis of osteogenesis imperfecta type IV. Material/Methods Preliminary genotyping was performed based on clinical characteristics of the family members and then high-throughput sequencing was applied to rapidly and accurately detect the changes in candidate genes. Results Genetic testing of the III5 fetus and other family members revealed missense mutation in c.2746G>A, pGly916Arg in COL1A2 gene coding region and missense and synonymous mutation in COL1A1 gene coding region. Conclusions Application of antenatal genetic diagnosis provides fast and accurate genetic counseling and eugenics suggestions for patients with osteogenesis imperfecta type IV and their families. PMID:25835785

  11. Accuracy of clinical diagnosis in parkinsonism--a prospective study.

    PubMed

    Rajput, A H; Rozdilsky, B; Rajput, A

    1991-08-01

    Clinical diagnosis of Parkinson's syndrome (PS) is reasonably easy in most cases but the distinction between different variants of PS may be difficult in early cases. The correct diagnosis is not only important for counselling and management of patients but also in conducting pharmacological and epidemiological studies. There is very little critical literature on the pathological verification of the clinical diagnosis in PS. We report our 22 years experience to address that issue. Between 1968 and 1990, 65 PS patients came to autopsy. Complete data are available in 59 (M-50, F-19) cases. The initial diagnosis made by a qualified neurologist was idiopathic Parkinson's disease (IPD) in 43 cases. Of those 28 (65%) had Lewy body pathology. After a mean duration of 12 years the final diagnosis was IPD in 41 cases which was confirmed in 31 (76%). The IPD could not be clinically distinguished from cases with severe substantia nigra neuronal loss without inclusions or from those with neurofibrillary tangle inclusions and neuronal loss at the anatomical sites typically involved in IPD. All progressive supra-nuclear palsy, olivopontocerebellar atrophy, Jakob-Creutzfeldt's disease and the majority of the multiple system atrophy cases were diagnosed correctly during life. The correct clinical diagnosis in most non-IPD variants of PS was possible within 5 years of onset (range: 2 months to 18 years). We recommend that studies aimed at including only the IPD cases restrict the enrollment to those cases that have had PS motor manifestations for five years or longer duration. PMID:1913360

  12. Methods for diagnosis of bile acid malabsorption in clinical practice.

    PubMed

    Vijayvargiya, Priya; Camilleri, Michael; Shin, Andrea; Saenger, Amy

    2013-10-01

    Altered concentrations of bile acid (BA) in the colon can cause diarrhea or constipation. More than 25% of patients with irritable bowel syndrome with diarrhea or chronic diarrhea in Western countries have BA malabsorption (BAM). As BAM is increasingly recognized, proper diagnostic methods are needed to help direct the most effective course of treatment for the chronic bowel dysfunction. We review the methodologies, advantages, and disadvantages of tools that directly measure BAM: the (14)C-glycocholate breath and stool test, the (75)selenium homotaurocholic acid test (SeHCAT), and measurements of 7 α-hydroxy-4-cholesten-3-one (C4) and fecal BAs. The (14)C-glycocholate test is laborious and no longer widely used. The (75)SeHCAT has been validated but is not available in the United States. Measurement of serum C4 is a simple and accurate method that can be used for most patients but requires further clinical validation. Assays to quantify fecal BA (total and individual levels) are technically cumbersome and not widely available. Regrettably, none of these tests are routinely available in the United States; assessment of the therapeutic effects of a BA binder is used as a surrogate for diagnosis of BAM. Recent data indicate the advantages to studying fecal excretion of individual BAs and their role in BAM; these could support the use of the fecal BA assay, compared with other tests. Measurement of fecal BA levels could become a routine addition to the measurement of fecal fat in patients with unexplained diarrhea. Availability ultimately determines whether the C4, SeHCAT, or fecal BA test is used; more widespread availability of such tests would enhance clinical management of these patients.

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

    PubMed

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

    2014-09-01

    Hair loss (alopecia) is a common problem and is often a major source of distress for patients. The differential diagnosis of alopecia includes both scarring and nonscarring alopecias. In addition, many hair shaft disorders can produce hair shaft fragility, resulting in different patterns of alopecia. Therefore, an organized and systematic approach is needed to accurately address patients' complaints to achieve the correct diagnosis. Part 1 of this 2-part continuing medical education article on alopecia describes history taking and the clinical examination of different hair loss disorders. It also provides an algorithmic diagnostic approach based on the most recent knowledge about different types of alopecia. PMID:25128118

  14. Accurate diagnosis of Helicobacter pylori. 13C-urea breath test.

    PubMed

    Graham, D Y; Klein, P D

    2000-12-01

    The preferred schema for management of Helicobacter pylori infection is diagnosis, treatment, and confirmation of cure. The 13C-urea breath test is ideal for active H. pylori infection for those in whom endoscopy is not required (e.g., those in whom cancer is not suspected) because it offers the combination of simplicity, accuracy, reliability, and absence of exposure to radioactivity. New versions of the test also offer increasing simplicity and lower costs. PMID:11190073

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

    PubMed

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

    2012-01-01

    To define clinical presentations of visual auras and to reveal their clinical, encephalographic and neuroimaging correlates, we examined 23 patients, aged from 5 to 25 years (mean 14±6 years), with focal forms of epilepsy. Patients had visual auras regardless of the etiology of epilepsy which developed immediately before epileptic seizures or were isolated. Patients had simple or complex visual hallucinations, the former occurring more frequently, visual illusions and ictal amaurosis. Positive visual phenomena were noted more frequently than negative ones. In most of the patients, visual hallucinations were associated with the pathological activity in cortical occipital regions of the brain and, in some cases, in temporal and parietal regions. The different pathologies (developmental defects, post-ischemic, atrophic and other disturbances) identified by MRI were found in a half of patients. PMID:23120768

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

    PubMed

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

    2012-01-01

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

  17. Clinical symptoms, diagnosis, and treatment of neurocysticercosis.

    PubMed

    Garcia, Hector H; Nash, Theodore E; Del Brutto, Oscar H

    2014-12-01

    The infection of the nervous system by the cystic larvae of Taenia solium (neurocysticercosis) is a frequent cause of seizure disorders. Neurocysticercosis is endemic or presumed to be endemic in many low-income countries. The lifecycle of the worm and the clinical manifestations of neurocysticercosis are well established, and CT and MRI have substantially improved knowledge of the disease course. Improvements in immunodiagnosis have further advanced comprehension of the pathophysiology of this disease. This knowledge has led to individualised treatment approaches that account for the involvement of parenchymal or extraparenchymal spaces, the number and form of parasites, and the extent of degeneration and associated inflammation. Clinical investigations are focused on development of effective treatments and reduction of side-effects induced by treatment, such as seizures, hydrocephalus, infarcts, and neuroinjury.

  18. Evidenced-based review of clinical studies on endodontic diagnosis.

    PubMed

    2009-08-01

    The practice of endodontics requires excellence in diagnostic skills. The importance of this topic has been underscored by a recent 2008 AAE-sponsored symposium on endodontic diagnosis, which will be highlighted in a special issue of the Journal of Endodontics. In this minireview, we focus on recent clinical studies that emphasize different aspects related to the diagnosis of disorders of the pulp-dentin complex. PMID:19631854

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

    PubMed

    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 (R(2) = 0.9945). Thus, we showed the potential of this chip system for the diagnosis of malaria. PMID:27445125

  20. 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

  1. Etiology, diagnosis, and clinical management of vulvodynia

    PubMed Central

    Sadownik, Leslie A

    2014-01-01

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

  2. LEOPARD syndrome: clinical dilemmas in differential diagnosis of RASopathies

    PubMed Central

    2014-01-01

    Background Diagnosis within RASopathies still represents a challenge. Nevertheless, many efforts have been made by clinicians to identify specific clinical features which might help in differentiating one disorder from another. Here, we describe a child initially diagnosed with Neurofibromatosis-Noonan syndrome. The follow-up of the proband, the clinical evaluation of his father together with a gene-by-gene testing approach led us to the proper diagnosis. Case presentation We report a 8-year-old male with multiple café-au-lait macules, several lentigines and dysmorphic features that suggest Noonan syndrome initially diagnosed with Neurofibromatosis-Noonan syndrome. However, after a few years of clinical and ophthalmological follow-up, the absence of typical features of Neurofibromatosis type 1 and the lack of NF1 mutation led us to reconsider the original diagnosis. A new examination of the patient and his similarly affected father, who was initially referred as healthy, led us to suspect LEOPARD syndrome, The diagnosis was then confirmed by the occurrence in both patients of a heterozygous mutation c.1403 C > T, p.(Thr468Met), of PTPN11. Subsequently, the proband was also found to have type-1 Arnold-Chiari malformation in association with syringomyelia. Conclusion Our experience suggests that differential clinical diagnosis among RASopathies remains ambiguous and raises doubts on the current diagnostic clinical criteria. In some cases, genetic tests represent the only conclusive proof for a correct diagnosis and, consequently, for establishing individual prognosis and providing adequate follow-up. Thus, molecular testing represents an essential tool in differential diagnosis of RASophaties. This view is further strengthened by the increasing accessibility of new sequencing techniques. Finally, to our knowledge, the described case represents the third report of the occurrence of Arnold Chiari malformation and the second description of syringomyelia with

  3. [Clinical aspects and diagnosis of viral hepatitis].

    PubMed

    Vince, Adriana

    2003-01-01

    Viral hepatitides are common diseases of modern man in both industrialized and developing countries, with a varying prevalence of particular types and mode of transmission. In current medicine, viral hepatitides are classified in the A-E nomenclature, differentiating viruses that can be etiologically defined with certainty on the basis of serum markers and hepatitides exhibiting all clinical and laboratory characteristics of viral hepatitis but of as yet nondemonstrable causative agents, classified in the non-A, non-E hepatitis group. Two issues are of high relevance in the pathogenesis of viral hepatitides: route of transmission (fecal-oral or parenteral) and basic mechanism of hepatocyte lesion. Although all hepatitis viruses replicate within the hepatocyte, the exact mechanism of hepatocyte necrosis has not yet been fully elucidated, i.e. direct cytotoxicity or hepatoprogressive immune response mediated primarily by the specific cytotoxic CD8 lymphocytes. Depending on the site of entry, the virus replicates in the adjacent lymphatic tissue for some time, followed by primary viremia, virus replication in the lymphoreticular organs (lymph nodes, liver, spleen), and eventual entry in the target cells--hepatocytes, accompanied by a varying grade of necrosis and inflammatory reaction. The clinical and laboratory signs of the disease correspond to the degree of liver necrosis and are not specific for particular types of viral hepatitis. The most frequent symptoms common to all types of viral hepatitis of moderate severity include elevated body temperature persisting for days, fatigue, gradual loss of appetite, nausea, dull pain and discomfort on DRL, vomiting, multiple loose stools, dark urine, jaundice of the skin and mucosa, and light stools. Generally, the ultimate outcome of the disease is elimination of the virus and complete recovery, however, a fulminant course with lethal outcome or transition to chronic disease may also occur, making viral hepatitides a major

  4. The Amyloidoses: Clinical Features, Diagnosis and Treatment

    PubMed Central

    Baker, Kelty R.; Rice, Lawrence

    2012-01-01

    Amyloidosis is a rare disorder in which insoluble amyloid proteins are deposited in body organs, causing abnormal protein build-up in tissues and eventually leading to organ dysfunction and death. It affects less than 200,000 people in the United States, classifying it as a rare disease according to the National Institutes of Health. Definitive determination of the underlying protein is critical since prognosis and treatment of amyloidosis can vary widely depending on the responsible protein. The following paper describes the various types and clinical features of amyloidosis and provides an overview of current diagnostic tools and therapies. PMID:23227278

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

    PubMed Central

    Kim, Jong S.

    2016-01-01

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

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

    PubMed

    Tucci, Veronica; Sokari, Telematé

    2014-05-01

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

  7. Clostridium difficile: clinical disease and diagnosis.

    PubMed Central

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

    1993-01-01

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

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

    PubMed

    James, Veronica J

    2009-07-01

    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.

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

    SciTech Connect

    James, Veronica J.

    2009-10-21

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

  10. Clinical pertinence metric enables hypothesis-independent genome-phenome analysis for neurologic diagnosis.

    PubMed

    Segal, Michael M; Abdellateef, Mostafa; El-Hattab, Ayman W; Hilbush, Brian S; De La Vega, Francisco M; Tromp, Gerard; Williams, Marc S; Betensky, Rebecca A; Gleeson, Joseph

    2015-06-01

    We describe an "integrated genome-phenome analysis" that combines both genomic sequence data and clinical information for genomic diagnosis. It is novel in that it uses robust diagnostic decision support and combines the clinical differential diagnosis and the genomic variants using a "pertinence" metric. This allows the analysis to be hypothesis-independent, not requiring assumptions about mode of inheritance, number of genes involved, or which clinical findings are most relevant. Using 20 genomic trios with neurologic disease, we find that pertinence scores averaging 99.9% identify the causative variant under conditions in which a genomic trio is analyzed and family-aware variant calling is done. The analysis takes seconds, and pertinence scores can be improved by clinicians adding more findings. The core conclusion is that automated genome-phenome analysis can be accurate, rapid, and efficient. We also conclude that an automated process offers a methodology for quality improvement of many components of genomic analysis.

  11. The diagnosis and clinical significance of polyautoimmunity.

    PubMed

    Anaya, Juan-Manuel

    2014-01-01

    Autoimmune diseases (ADs) are chronic and heterogeneous conditions that affect specific target organs or multiple organ systems. The chronic nature of these diseases places a significant burden on the utilization of medical care, direct and indirect economic costs, and quality of life. ADs are observed in genetically susceptible individuals in whom their clinical expression is modified by permissive and protective environments occurring over time. These are complex traits, meaning that their inheritance does not follow a single-gene dominant or single-gene recessive Mendelian law, and thus that they are polygenic. ADs are often diagnosed according to classification criteria, however they share similar subphenotypes including signs and symptoms, non-specific autoantibodies and other immune changes, which are prone to taxonomic problems. Polyautoimmunity is defined as the presence of more than one AD in a single patient. When three or more ADs coexist, this condition is called multiple autoimmune syndrome (MAS), which represents the best example of polyautoimmunity as well as the effect of a single genotype on diverse autoimmune phenotypes. Its study will provide important clues to elucidate the common mechanisms of ADs (i.e., the autoimmune tautology).

  12. Clinical approach to the diagnosis of congenital myopathies.

    PubMed

    North, Kathryn N

    2011-12-01

    In this issue of Seminars in Pediatric Neurology, each chapter will focus on the features and management of individual congenital myopathies. This introductory chapter will provide an overview of the clinical features that alert the clinician to the likely diagnosis of a congenital myopathy, and specific features on history and examination that are characteristic of a specific genetic subtype. Most congenital myopathies share a common pattern of clinical features, which makes it difficult to predict the genetic cause in a patient by clinical assessment alone. Although no single feature is specific for the congenital myopathies, the presence of this common pattern highlights patients in whom a muscle biopsy is likely to provide important diagnostic information. The diagnosis of a specific congenital myopathy should only be made when the defining morphologic feature is the predominant pathologic change, other possible causes have been excluded, and the clinical course is nonprogressive or only slowly progressive. PMID:22172416

  13. Calibre Persistent Labial Artery: Clinical Features and Immunohistochemistry Diagnosis.

    PubMed

    Santagata, M; Maglione, M; Colella, G; D'Amato, S

    2015-09-01

    Calibre persistent labial artery (CPLA) usually presents as an asymptomatic papule on the lower lip and can be easily misdiagnosed as a mucocele, haemangioma, venous lake, varix or fibroma. When it is ulcerated, squamous cell carcinoma is the most usual differential diagnosis. Here, we report a case of a 25-year-old woman with no previous relevant medical history who presented with a complaint of an asymptomatic, non-ulcerated, progressively growing nodule (over the last 5 months) on the upper lip. In this case, the diagnosis was made clinically and confirmed by immunohistochemical analysis. We conclude that clinicians should be aware of CPLA and it should be included in the differential diagnosis of labial mucosal papules. Sometimes, the immunohistochemical analysis is necessary to make a correct diagnosis. PMID:26225087

  14. Integrating Preclinical and Clinical Oral Diagnosis and Radiology.

    ERIC Educational Resources Information Center

    Rhodus, Nelson L.; Brand, John W.

    1988-01-01

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

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

    PubMed

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

    2014-04-01

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

  16. 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.

  17. Clinical and pathologic diagnosis and different diagnosis of syphilis cervical lymphadenitis

    PubMed Central

    Yuan, Yufen; Zhang, Xinlian; Xu, Nan; Wang, Libo; Li, Fangchao; Zhang, Ping; Miao, Lanfang; Yang, Haijun

    2015-01-01

    Purpose: To study the clinical pathologic characteristics and differential diagnosis of syphilitic cervical lymphadenitis, and to improve the rate of its diagnosis and treatment. Methods: Retrospectively analyzed the clinical history, Trepone pallidum-ELISA (TP-ELISA), rapid plasma regain test (RPR) and routine pathological examination of the patient diagnosed as syphilis lymphadenitis. And review related literatures. Results: The main clinical presentation was multiple palpable cervical lymph nodes. The multiple nodes were hard, fixed, and the major diameter of the larger one was 2 cm. The main pathological changes included: the capsule was significantly thickened; reactive hyperplasia of lymphoid follicular with sky star phenomenon; occlusive endovasculitis; perivascular inflammation; the proliferation of epithelioid histiocytes can form granulomas with few multinucleated giant cells; few necrosis. TP-ELISA and RPR were positive. Conclusions: The pathological changes of syphilitic lymphadenitis have a variety of performance with relatively specific and suggestive alterations which requires a combination of clinical history and laboratory test before the diagnosis, and the clinicians can reduce misdiagnosis and missed diagnosis of the disease by increasing vigilance of it. PMID:26722588

  18. Radial artery blood pressure measurement in neonates: an accurate and convenient technique in clinical practice.

    PubMed

    Gevers, M; van Genderingen, H R; Lafeber, H N; Hack, W W

    1995-01-01

    To achieve accurate blood pressure measurement through radial artery catheters in infants, we previously developed an experimental high-fidelity catheter-manometer system (CMS). As this system lacks facilities for flushing and for blood sampling, we aimed to further develop this technique in order to make the system suitable for clinical practice. In addition, we aimed to develop methods to automate processing of the pressure wave forms. The high-fidelity system to be improved consisted of a 24 Gauge catheter, a threeway stopcock and a tip-manometer. We inserted this system in the catheter-manometer system as routinely used i.e. the remaining end of the stopcock was connected to the fluid-filled CMS as used routinely. This combined system became clinically applicable, since blood samples could be obtained and flushing could be performed. The measurement chain was completed by application of a modified physiological monitor and a computerized method to analyze pressure wave forms. In this manner accurate beat-to-beat pressure parameters were obtained. This technique was applied to 25 neonates admitted for intensive care and requiring arterial access. Gestational age of these infants ranged from 25-40 (median 29) weeks and birth weight ranges from 500-3375 (median 1060) grams. In all infants the technique was found to be convenient and the high-fidelity blood pressure measurements were performed without any problems. The advantage of the present system is the potential for both correct intermittent recordings of arterial wave forms in close relation to clinical condition and for the establishment of accurate radial artery beat-to-beat pressure values in clinical practice.

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

    PubMed

    Myers, Risa B; Herskovic, Jorge R

    2011-12-01

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

  20. Oral myofibromas: report of two cases and review of clinical and histopathologic differential diagnosis.

    PubMed

    Azevedo, Rebeca de Souza; Pires, Fábio Ramôa; Della Coletta, Ricardo; de Almeida, Oslei Paes; Kowalski, Luiz Paulo; Lopes, Márcio Ajudarte

    2008-06-01

    Myofibroma is a benign mesenchymal neoplasm composed of myofibroblasts which has been described with different synonyms since the first report in 1951. It may show clinical and histologic features that may be misinterpreted as a malignancy. We describe 2 cases of oral myofibromas affecting infants; the first one showed a rapid growth with teeth displacement and ulceration; the second one presented a relatively slow growth with an indolent course. Differential diagnosis included benign and malignant mesenchymal neoplasms, salivary gland tumors, and reactive processes. Microscopic analysis of both lesions revealed a spindle cell tumor with immunoreactivity for vimentin, muscle-specific actin, and specific smooth muscle isoform alpha-actin, rendering the diagnoses of myofibroma. The patients were treated with surgical excision, and both are in follow-up without any signs of recurrence. Myofibroma presents a wide range of differential diagnosis, including benign and malignant neoplasms. Therefore, accurate diagnosis may avoid an unnecessary aggressive therapy.

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

    PubMed

    Hutyra, Tomasz; Iwańczak, Barbara

    2009-02-01

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

  2. Clinical guideline for diagnosis and management of melioidosis.

    PubMed

    Inglis, Timothy J J; Rolim, Dionne B; Rodriguez, Jorge L N

    2006-01-01

    Melioidosis is an emerging infection in Brazil and neighbouring South American countries. The wide range of clinical presentations include severe community-acquired pneumonia, septicaemia, central nervous system infection and less severe soft tissue infection. Diagnosis depends heavily on the clinical microbiology laboratory for culture. Burkholderia pseudomallei, the bacterial cause of melioidosis, is easily cultured from blood, sputum and other clinical samples. However, B. pseudomallei can be difficult to identify reliably, and can be confused with closely related bacteria, some of which may be dismissed as insignificant culture contaminants. Serological tests can help to support a diagnosis of melioidosis, but by themselves do not provide a definitive diagnosis. The use of a laboratory discovery pathway can help reduce the risk of missing atypical B. pseudomallei isolates. Recommended antibiotic treatment for severe infection is either intravenous Ceftazidime or Meropenem for several weeks, followed by up to 20 weeks oral treatment with a combination of trimethoprim-sulphamethoxazole and doxycycline. Consistent use of diagnostic microbiology to confirm the diagnosis, and rigorous treatment of severe infection with the correct antibiotics in two stages; acute and eradication, will contribute to a reduction in mortality from melioidosis. PMID:16547571

  3. Simple, Sensitive and Accurate Multiplex Detection of Clinically Important Melanoma DNA Mutations in Circulating Tumour DNA with SERS Nanotags

    PubMed Central

    Wee, Eugene J.H.; Wang, Yuling; Tsao, Simon Chang-Hao; Trau, Matt

    2016-01-01

    Sensitive and accurate identification of specific DNA mutations can influence clinical decisions. However accurate diagnosis from limiting samples such as circulating tumour DNA (ctDNA) is challenging. Current approaches based on fluorescence such as quantitative PCR (qPCR) and more recently, droplet digital PCR (ddPCR) have limitations in multiplex detection, sensitivity and the need for expensive specialized equipment. Herein we describe an assay capitalizing on the multiplexing and sensitivity benefits of surface-enhanced Raman spectroscopy (SERS) with the simplicity of standard PCR to address the limitations of current approaches. This proof-of-concept method could reproducibly detect as few as 0.1% (10 copies, CV < 9%) of target sequences thus demonstrating the high sensitivity of the method. The method was then applied to specifically detect three important melanoma mutations in multiplex. Finally, the PCR/SERS assay was used to genotype cell lines and ctDNA from serum samples where results subsequently validated with ddPCR. With ddPCR-like sensitivity and accuracy yet at the convenience of standard PCR, we believe this multiplex PCR/SERS method could find wide applications in both diagnostics and research. PMID:27446486

  4. Can optical diagnosis of small colon polyps be accurate? Comparing standard scope without narrow banding to high definition scope with narrow banding

    PubMed Central

    Ashktorab, Hassan; Etaati, Firoozeh; Rezaeean, Farahnaz; Nouraie, Mehdi; Paydar, Mansour; Namin, Hassan Hassanzadeh; Sanderson, Andrew; Begum, Rehana; Alkhalloufi, Kawtar; Brim, Hassan; Laiyemo, Adeyinka O

    2016-01-01

    AIM: To study the accuracy of using high definition (HD) scope with narrow band imaging (NBI) vs standard white light colonoscope without NBI (ST), to predict the histology of the colon polyps, particularly those < 1 cm. METHODS: A total of 147 African Americans patients who were referred to Howard University Hospital for screening or, diagnostic or follow up colonoscopy, during a 12-mo period in 2012 were prospectively recruited. Some patients had multiple polyps and total number of polyps was 179. Their colonoscopies were performed by 3 experienced endoscopists who determined the size and stated whether the polyps being removed were hyperplastic or adenomatous polyps using standard colonoscopes or high definition colonoscopes with NBI. The histopathologic diagnosis was reported by pathologists as part of routine care. RESULTS: Of participants in the study, 55 (37%) were male and median (interquartile range) of age was 56 (19-80). Demographic, clinical characteristics, past medical history of patients, and the data obtained by two instruments were not significantly different and two methods detected similar number of polyps. In ST scope 89% of polyps were < 1 cm vs 87% in HD scope (P = 0.7). The ST scope had a positive predictive value (PPV) and positive likelihood ratio (PLR) of 86% and 4.0 for adenoma compared to 74% and 2.6 for HD scope. There was a trend of higher sensitivity for HD scope (68%) compare to ST scope (53%) with almost the same specificity. The ST scope had a PPV and PLR of 38% and 1.8 for hyperplastic polyp (HPP) compared to 42% and 2.2 for HD scope. The sensitivity and specificity of two instruments for HPP diagnosis were similar. CONCLUSION: Our results indicated that HD scope was more sensitive in diagnosis of adenoma than ST scope. Clinical diagnosis of HPP with either scope is less accurate compared to adenoma. Colonoscopy diagnosis is not yet fully matched with pathologic diagnosis of colon polyp. However with the advancement of both

  5. Can optical diagnosis of small colon polyps be accurate? Comparing standard scope without narrow banding to high definition scope with narrow banding

    PubMed Central

    Ashktorab, Hassan; Etaati, Firoozeh; Rezaeean, Farahnaz; Nouraie, Mehdi; Paydar, Mansour; Namin, Hassan Hassanzadeh; Sanderson, Andrew; Begum, Rehana; Alkhalloufi, Kawtar; Brim, Hassan; Laiyemo, Adeyinka O

    2016-01-01

    AIM: To study the accuracy of using high definition (HD) scope with narrow band imaging (NBI) vs standard white light colonoscope without NBI (ST), to predict the histology of the colon polyps, particularly those < 1 cm. METHODS: A total of 147 African Americans patients who were referred to Howard University Hospital for screening or, diagnostic or follow up colonoscopy, during a 12-mo period in 2012 were prospectively recruited. Some patients had multiple polyps and total number of polyps was 179. Their colonoscopies were performed by 3 experienced endoscopists who determined the size and stated whether the polyps being removed were hyperplastic or adenomatous polyps using standard colonoscopes or high definition colonoscopes with NBI. The histopathologic diagnosis was reported by pathologists as part of routine care. RESULTS: Of participants in the study, 55 (37%) were male and median (interquartile range) of age was 56 (19-80). Demographic, clinical characteristics, past medical history of patients, and the data obtained by two instruments were not significantly different and two methods detected similar number of polyps. In ST scope 89% of polyps were < 1 cm vs 87% in HD scope (P = 0.7). The ST scope had a positive predictive value (PPV) and positive likelihood ratio (PLR) of 86% and 4.0 for adenoma compared to 74% and 2.6 for HD scope. There was a trend of higher sensitivity for HD scope (68%) compare to ST scope (53%) with almost the same specificity. The ST scope had a PPV and PLR of 38% and 1.8 for hyperplastic polyp (HPP) compared to 42% and 2.2 for HD scope. The sensitivity and specificity of two instruments for HPP diagnosis were similar. CONCLUSION: Our results indicated that HD scope was more sensitive in diagnosis of adenoma than ST scope. Clinical diagnosis of HPP with either scope is less accurate compared to adenoma. Colonoscopy diagnosis is not yet fully matched with pathologic diagnosis of colon polyp. However with the advancement of both

  6. [Melanotic neurofibroma, clinical and histopathologic diagnosis. Case report].

    PubMed

    Zbranca, Anca; Stefan, Raluca; Grigorovici, Mirela; Cherciu, Mirela

    2004-01-01

    Melanotic neurofibroma is a rare benign tumor, derived from peripheral nerve sheath, whose originality consists in the presence of melanic pigment. The clinical diagnosis is difficult to establish, requiring the histopathological exam to make the difference between melanotic neurofibroma and the other pigmented tumors. Although, sometimes neither the anatomopathological exam can establish the final diagnosis, requiring supplementary studies. Melanotic neurofibroma has a good prognosis and the malignization is rare. The elective treatment is surgical, represented by the complete excision of the tumor. PMID:15832981

  7. Can simple tests performed in the primary care setting provide accurate and efficient diagnosis of benign prostatic hyperplasia? Rationale and design of the Diagnosis Improvement in Primary Care Trial.

    PubMed

    Carballido, J; Fourcade, R; Pagliarulo, A; Cricelli, C; Brenes, F; Pedromingo-Marino, A; Castro, R

    2009-08-01

    Effective treatment of benign prostatic hyperplasia (BPH) improves lower urinary tract symptoms (LUTS) and patient quality of life, and reduces the risk of complications arising from disease progression. However, treatment can only be initiated when men with BPH are identified by accurate diagnostic tests. Current evidence suggests that diagnostic procedures employed by primary care physicians vary widely across Europe. The expected increases in BPH prevalence accompanying the gradual aging of the population, coupled with greater use of medical therapy, mean that general practitioners (GPs) are likely to have an increasingly important role in managing the condition. The GP/primary care clinic is therefore an attractive target location for strategies designed to improve the accuracy of BPH diagnosis. The Diagnosis Improvement in Primary Care Trial (D-IMPACT) is a prospective, multicentre, epidemiological study that aims to identify the optimal subset of simple tests applied by GPs in the primary care setting to diagnose BPH in men who spontaneously report obstructive (voiding) and/or irritative (storage) LUTS. These tests comprise medical history, symptom assessment with the International Prostate Symptom Score questionnaire, urinalysis, measurement of serum levels of prostate-specific antigen and subjective GP diagnosis after completing all tests including digital rectal examination. GP diagnoses and all other tests will be compared with gold-standard diagnoses provided by specialist urologists following completion of additional diagnostic tests. D-IMPACT will establish the diagnostic performance using a non-subjective and reproducible algorithm. An adjusted and multivariate analysis of the results of D-IMPACT will allow identification of the most efficient combination of tests that facilitate accurate BPH diagnosis in the primary care setting. In addition, D-IMPACT will estimate the prevalence of BPH in patients who present spontaneously to GPs with LUTS. PMID

  8. Sniffing out the truth: clinical diagnosis using the electronic nose.

    PubMed

    Pavlou, A K; Turner, A P

    2000-02-01

    Recently the use of smell in clinical diagnosis has been rediscovered due to major advances in odour sensing technology and artificial intelligence (AI). It was well known in the past that a number of infectious or metabolic diseases could liberate specific odours characteristic of the disease stage. Later chromatographic techniques identified an enormous number of volatiles in human clinical specimens that might serve as potential disease markers. "Artificial nose" technology has been employed in several areas of medical diagnosis, including rapid detection of tuberculosis (TB), Helicobacter pylori (HP) and urinary tract infections (UTI). Preliminary results have demonstrated the possibility of identifying and characterising microbial pathogens in clinical specimens. A hybrid intelligent model of four interdependent "tools", odour generation "kits", rapid volatile delivery and recovery systems, consistent low drift sensor performance and a hybrid intelligent system of parallel neural networks (NN) and expert systems, have been applied in gastric, pulmonary and urine diagnosis. Initial clinical tests have shown that it may be possible in the near future to use electronic nose technology not only for the rapid detection of diseases such as peptic ulceration, UTI, and TB but also for the continuous dynamic monitoring of disease stages. Major advances in information and gas sensor technology could enhance the diagnostic power of future bio-electronic noses and facilitate global surveillance models of disease control and management. PMID:10834396

  9. Calibre persistent labial artery: clinical features and noninvasive radiological diagnosis.

    PubMed

    Kocyigit, P; Kocyigit, D; Akay, B N; Ustuner, E; Kisnisci, R

    2006-07-01

    Calibre persistent labial artery (CPLA) is defined as a primary arterial branch that penetrates into the submucosal tissue without division or decrease in diameter. It usually presents as an asymptomatic papule on the lower lip and can be easily misdiagnosed as a varix, haemangioma, venous lake, mucocele or fibroma. When it is ulcerated, squamous cell carcinoma is the most usual differential diagnosis. The most frequently used method to confirm the diagnosis of CPLA has been excisional biopsy, which carries the risk of profuse bleeding. Angiography, another invasive method, has also been used. Here, we report a case of a 20-year-old woman with a 5-year history of multiple CPLA lesions involving both upper and lower lips. In this case, the diagnosis was made clinically and confirmed by Doppler ultrasonography, which is a noninvasive and simple diagnostic tool. PMID:16716155

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

    PubMed

    Favrot, C; Rostaher, A; Fischer, N

    2014-07-01

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

  11. 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.

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

    PubMed

    Vélez, Paola; Paredes, Patricio; Fuenmayor, Frances

    2016-04-01

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

  13. High retroperitoneal lymphocele: unusual clinical presentation and diagnosis by ultrasonography.

    PubMed

    Fried, A M; Williams, C B; Litvak, A S

    1980-04-01

    A case of a mid lumbar lymphocele secondary to retroperitoneal lymphadenectomy for testicular carcinoma is described. The clinical picture was unusual and confusing in that the symptoms were gastrointestinal in nature. Ultrasound provided the diagnosis and guidance for aspiration. Although the most common operative source of lymphocele formation appears to be the pelvic lymphatics similar collections may arise from para-aortic and renal hilar dissections and produce unusual manifestations. Ultrasound is of established value in such cases.

  14. [Juvenil idiopathic arthritis. Part 1: diagnosis, pathogenesis and clinical manifestations].

    PubMed

    Espada, Graciela

    2009-10-01

    Juvenile idiopathic arthritis is not a single disease and constitutes an heterogeneous group of illnesses or inflammatory disorders. This new nomenclature encompasses different disease categories, each of which has different presentation, clinical signs, symptoms, and outcome. The cause of the disease is still unknown but both environmental and genetic factors seem to be related to its pathogenesis. Is the most common chronic rheumatic disease in children and an important cause of short-term and long-term disability. In this article, clinical manifestation, new classification and approach to diagnosis are reviewed.

  15. Piriformis Syndrome in Fibromyalgia: Clinical Diagnosis and Successful Treatment

    PubMed Central

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

    2014-01-01

    Piriformis syndrome is an underdiagnosed extraspinal association of sciatica. Patients usually complain of deep seated gluteal pain. In severe cases the clinical features of piriformis syndrome are primarily due to spasm of the piriformis muscle and irritation of the underlying sciatic nerve but this mysterious clinical scenario is also described in lumbar spinal canal stenosis, leg length discrepancy, piriformis myofascial pain syndrome, following vaginal delivery, and anomalous piriformis muscle or sciatic nerve. In this paper, we describe piriformis and fibromyalgia syndrome in a 30-year-old young lady, an often missed diagnosis. We also focus on management of the piriformis syndrome. PMID:25328750

  16. [Discussion on Clinical and Diagnosis Program of Integrative Medicine].

    PubMed

    Zeng, Yi-di; Cao, Ze-biao; Du, Jia; Tao, Jing-jie; Zhou, Xiao-qing

    2016-05-01

    Facing current situation of integrative medicine (IM), authors put forward that clinical and diagnosis program of IM could be carried out from clinical path, pathogenesis, treatment theory and philosophy, and so on, but with different integration degrees. Meanwhile, formulation of concrete program should be disease-targetedly set up, and adjusted from person to person, from place to place, from time to time. As for settled IM program , authors could evaluate it from whether Chinese medicine and Western medicine have formed complementary, synergistic, excitatory actions, and toxicity attenuation; whether more problems could be solved in efficacy, safety, practicability, and economy than previous single mode. PMID:27386638

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

    PubMed

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

    2014-01-01

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

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

    PubMed

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

    2014-01-01

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

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

    PubMed Central

    Reshetnyak, Vasiliy Ivanovich

    2015-01-01

    Primary biliary cirrhosis (PBC) is a chronic progressive cholestatic granulomatous, and destructive inflammatory lesion of small intralobular and septal bile ducts, which is likely to be caused by an autoimmune mechanism with a the presence of serum antimitochondrial antibodies and a potential tendency to progress to cirrhosis. Despite the fact that the etiology of this disease has been unknown so far, there has been a considerable body of scientific evidence that can reveal the clinical and laboratory signs of PBC and the individual components of its pathogenesis and elaborate diagnostic criteria for the disease and its symptomatic therapy. Deficiencies in autoimmune tolerance are critical factors for the initiation and perpetuation of the disease. The purpose of this review is to summarize the data available in the literature and the author’s findings on clinical and laboratory criteria for the diagnosis of PBC. This review describes the major clinical manifestations of the disease and the mechanisms of its development. It presents the immunological, biochemical, and morphological signs of PBC and their significance for its diagnosis. A great deal of novel scientific evidence for the problem of PBC has been accumulated. However, the inadequate efficiency of therapy for the disease lends impetus to the quest for its etiological factors and to further investigations of its pathogenetic mechanisms and, on this basis, to searches for new methods for its early diagnosis. PMID:26167070

  20. Early diagnosis of autism spectrum disorder: Stability and change in clinical diagnosis and symptom presentation

    PubMed Central

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

    2012-01-01

    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 findings come from high-risk samples, but reports on children screened in community settings are also needed. Methods Stability of diagnosis and Autism Diagnostic Observation Schedule–Toddler Module (ADOS-T) classifications and scores was examined across two time points in a sample of 82 children identified through the FIRST WORDSR Project. Children received two comprehensive diagnostic evaluations at average ages of 19.39 (SD=2.12) and 36.89 (SD=3.85) months. Results Stability was 100% when confirming and ruling out a diagnosis of ASD based on a comprehensive diagnostic evaluation that included clinic and home observations, although diagnosis was initially deferred for 17% of the sample. Receiver Operating Characteristic curves revealed excellent sensitivity and acceptable specificity for the ADOS-T compared to concurrent diagnosis. Logistic regressions indicated good predictive value of initial ADOS-T scores for follow-up diagnosis. Finally, both ASD and Non-ASD children demonstrated a decrease in Social Affect scores (i.e., improvement), while children with ASD demonstrated an increase in Restricted and Repetitive Behavior scores (i.e., worsening), changes that were accounted for by nonverbal developmental level in mixed model analyses. Conclusions Short-term stability was documented for children diagnosed at 19 months on average, although a minority of children initially showed unclear diagnostic presentations. Findings highlight utility of the ADOS-T in making early diagnoses and predicting follow-up diagnoses. Children with ASD demonstrated improvement in social communication behaviors and unfolding of repetitive

  1. Clinical relevance of molecular diagnosis in pet allergy.

    PubMed

    Uriarte, S A; Sastre, J

    2016-07-01

    We describe the pattern of sensitisation to pet IgE components and its association with clinical symptoms. Hundred and fifty nine consecutive patients with rhinitis/asthma sensitised to dog, cat, and horse were recruited. Specific IgE to whole extracts and to pet recombinant allergens were performed. Only 5% of patients were monosensitised to animal allergens. Specific IgE to Can f 1 was significantly associated with persistent rhinitis, Can f 2 with asthma diagnosis, Can f 3 with moderate/severe rhinitis (M/S-R) and asthma diagnosis (AD), and Can f 5 with persistent and M/S-R. Positive IgE to Fel d 2 was significantly associated with M/S-R and AD, Equ c 1 with M/S-R and Equ c 3 with persistent rhinitis, AD and severe asthma. Sensitisation to ≥2 molecules or to pet albumins was associated with more severe respiratory symptoms. Molecular diagnosis in patients with pet allergy may also help clinicians to predict clinical symptoms and their severity. PMID:27108666

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

    PubMed Central

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

    2014-01-01

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

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

    PubMed

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

    2014-01-01

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

  4. 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

  5. Thoracic outlet syndrome: a controversial clinical condition. Part 1: anatomy, and clinical examination/diagnosis

    PubMed Central

    Hooper, Troy L; Denton, Jeff; McGalliard, Michael K; Brismée, Jean-Michel; Sizer, Phillip S

    2010-01-01

    Thoracic outlet syndrome (TOS) is a frequently overlooked peripheral nerve compression or tension event that creates difficulties for the clinician regarding diagnosis and management. Investigators have categorized this condition as vascular versus neurogenic, where vascular TOS can be subcategorized as either arterial or venous and neurogenic TOS can subcategorized as either true or disputed. The thoracic outlet anatomical container presents with several key regional components, each capable of compromising the neurovascular structures coursing within. Bony and soft tissue abnormalities, along with mechanical dysfunctions, may contribute to neurovascular compromise. Diagnosing TOS can be challenging because the symptoms vary greatly amongst patients with the disorder, thus lending to other conditions including a double crush syndrome. A careful history and thorough clinical examination are the most important components in establishing the diagnosis of TOS. Specific clinical tests, whose accuracy has been documented, can be used to support a clinical diagnosis, especially when a cluster of positive tests are witnessed. PMID:21655389

  6. A diagnosis-based clinical decision rule for spinal pain part 2: review of the literature

    PubMed Central

    Murphy, Donald R; Hurwitz, Eric L; Nelson, Craig F

    2008-01-01

    Background Spinal pain is a common and often disabling problem. The research on various treatments for spinal pain has, for the most part, suggested that while several interventions have demonstrated mild to moderate short-term benefit, no single treatment has a major impact on either pain or disability. There is great need for more accurate diagnosis in patients with spinal pain. In a previous paper, the theoretical model of a diagnosis-based clinical decision rule was presented. The approach is designed to provide the clinician with a strategy for arriving at a specific working diagnosis from which treatment decisions can be made. It is based on three questions of diagnosis. In the current paper, the literature on the reliability and validity of the assessment procedures that are included in the diagnosis-based clinical decision rule is presented. Methods The databases of Medline, Cinahl, Embase and MANTIS were searched for studies that evaluated the reliability and validity of clinic-based diagnostic procedures for patients with spinal pain that have relevance for questions 2 (which investigates characteristics of the pain source) and 3 (which investigates perpetuating factors of the pain experience). In addition, the reference list of identified papers and authors' libraries were searched. Results A total of 1769 articles were retrieved, of which 138 were deemed relevant. Fifty-one studies related to reliability and 76 related to validity. One study evaluated both reliability and validity. Conclusion Regarding some aspects of the DBCDR, there are a number of studies that allow the clinician to have a reasonable degree of confidence in his or her findings. This is particularly true for centralization signs, neurodynamic signs and psychological perpetuating factors. There are other aspects of the DBCDR in which a lesser degree of confidence is warranted, and in which further research is needed. PMID:18694490

  7. Clinical diagnosis of dental caries: a European perspective.

    PubMed

    Pitts, N B

    2001-10-01

    The aim of this paper is to provide a broad international perspective on aspects of the RTI/UNC systematic review, to introduce relevant literature not cited, and to make recommendations for clinical practice education and research suggested by the evidence. Clinical caries diagnosis represents the foundation on which the answers to most of the consensus questions will be based. This paper highlights needs for being clear about definitions and nomenclature; understanding the importance of the concepts underlying the D1 and D3 diagnostic thresholds used widely within the RTI/UNC Review; and appreciating that the diagnostic challenge now faced by clinicians is significant and is becoming more complex as the presentation and distribution of the disease changes over time and the range of preventive and operative treatment options expands. A series of recommendations informed by the evidence are made, including a rather contentious issue for many clinicians concerning the lack of evidence supporting the continued use of a sharp explorer as a diagnostic tool for primary caries diagnosis. This practice should be discontinued as it may cause some harm to the patient and yet fails to provide a significant balancing diagnostic benefit. Finally, it is suggested that dentistry should learn from the developing evidence base in medicine on how best to disseminate the findings of reviews and promote appropriate changes in clinical practice.

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

    PubMed

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

    2013-01-01

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

  9. Clinical evaluation of cytological diagnosis of nasopharyngeal malignancies.

    PubMed

    Molinari, R; Pilotti, S; Rilke, F

    1978-01-01

    Between 1970 and 1975 cytological examination was applied to the diagnosis of nasopharyngeal malignancies in a series of 216 consecutive patients who had either a tumour in the nasopharynx or clinical signs of nasopharyngeal carcinoma, or who were locally asymptomatic but had enlarged cervical lymph nodes. Smears were taken by introducing a small rough pad of compressed gauze through the mouth into the nasopharynx with an upward-angled forceps. In each case the cytological smear was taken immediately before biopsy; often, a lymph node was removed subsequently. When morphological diagnoses were doubtful and histological findings were at variance with positive cytological findings, the patients were reexamined clinically, and diagnosis was postponed. The case material was made up of 90 nasopharyngeal carcinomas, 24 lymphomas, one malignant melanoma, one adenoid cystic carcinoma and 100 patients without malignancies. Cytological findings from the first smear were positive in 77.8% of nasopharyngeal carcinomas, in 66.6% of lymphomas and in the cases of melanoma and adenoid cystic carcinoma. There were no false-positive results. When the nasopharyngeal carcinomas were subdivided into undifferentiated carcinomas of the nasopharyngeal type and squamous-cell carcinomas, cytological findings were positive in ,0% and 73%, respectively. Positivity of histological findings was distributed as follows: 91.7% for malignant lymphomas, 86.6% for undifferentiated carcinomas and 86.6% for squamous-cell carcinomas. With respect to clinical suspicion of malignancy, positive cytological findings were obtained in 50% of clinically occult cases and in 84.6% of patients with obvious malignancies; intermediate figures were found for clinically doubtful (64.3%) and for highly suspicious (77.8%) cases. Cyto-histological concordance was shown in 70% of cases; false-negative histological results were obtained in 7.8% and false-negative cytological results in 16.6% of cases. Combined cyto

  10. Application of a diagnosis-based clinical decision guide in patients with low back pain

    PubMed Central

    2011-01-01

    Background Low back pain (LBP) is common and costly. Development of accurate and efficacious methods of diagnosis and treatment has been identified as a research priority. A diagnosis-based clinical decision guide (DBCDG; previously referred to as a diagnosis-based clinical decision rule) has been proposed which attempts to provide the clinician with a systematic, evidence-based means to apply the biopsychosocial model of care. The approach is based on three questions of diagnosis. The purpose of this study is to present the prevalence of findings using the DBCDG in consecutive patients with LBP. Methods Demographic, diagnostic and baseline outcome measure data were gathered on a cohort of LBP patients examined by one of three examiners trained in the application of the DBCDG. Results Data were gathered on 264 patients. Signs of visceral disease or potentially serious illness were found in 2.7%. Centralization signs were found in 41%, lumbar and sacroiliac segmental signs in 23% and 27%, respectively and radicular signs were found in 24%. Clinically relevant myofascial signs were diagnosed in 10%. Dynamic instability was diagnosed in 63%, fear beliefs in 40%, central pain hypersensitivity in 5%, passive coping in 3% and depression in 3%. Conclusion The DBCDG can be applied in a busy private practice environment. Further studies are needed to investigate clinically relevant means to identify central pain hypersensitivity, poor coping and depression, correlations and patterns among the diagnostic components of the DBCDG as well as inter-examiner reliability and efficacy of treatment based on the DBCDG. PMID:22018026

  11. The clinical recognition and differential diagnosis of Rett syndrome.

    PubMed

    Trevathan, E; Naidu, S

    1988-01-01

    Rett syndrome (RS) is characterized by progressive loss of intellectual functioning and fine and gross motor skills as well as development of stereotypic hand movement abnormalities, occurring after 6 to 18 months of normal development. Rett syndrome has been previously reported only in girls, but the possibility of the syndrome existing in male children cannot be currently excluded. Although the syndrome is thought to be relatively common, it was only described in the English literature 5 years ago. There is currently no marker for the syndrome; diagnosis is based on clinical criteria. The newly developed diagnostic criteria for RS are reviewed, with special attention given to the historical aspects of the diagnosis in the prenatal, perinatal, neonatal, and early childhood periods. Rett syndrome is characterized by a predictable, orderly progression of signs and symptoms. Four stages of RS have been described; each stage has special characteristics and offers different diagnostic challenges for the neurologist. Infantile autism is the most common incorrect diagnosis made for children with RS. The simultaneous regression of both motor and language skills, as well as the stereotypic hand movements, hyperventilation, bruxism, and seizures in early childhood are all typical in RS and help distinguish RS from infantile autism.

  12. Clinical advances in molecular biomarkers for cancer diagnosis and therapy.

    PubMed

    Sethi, Seema; Ali, Shadan; Philip, Philip A; Sarkar, Fazlul H

    2013-07-16

    Cancer diagnosis is currently undergoing a paradigm shift with the incorporation of molecular biomarkers as part of routine diagnostic panel. The molecular alteration ranges from those involving the DNA, RNA, microRNAs (miRNAs) and proteins. The miRNAs are recently discovered small non-coding endogenous single-stranded RNAs that critically regulates the development, invasion and metastasis of cancers. They are altered in cancers and have the potential to serve as diagnostic markers for cancer. Moreover, deregulating their activity offers novel cancer therapeutic approaches. The availability of high throughput techniques for the identification of altered cellular molecules allowed their use in cancer diagnosis. Their application to a variety of body specimens from blood to tissues has been helpful for appreciating their use in the clinical context. The development of innovative antibodies for immunohistochemical detection of proteins also assists in diagnosis and risk stratification. Overall, the novel cancer diagnostic tools have extended their application as prognostic risk factors and can be used as targets for personalized medicine.

  13. Lymphoscintigraphy to confirm the clinical diagnosis of lymphedema

    SciTech Connect

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

    1989-09-01

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

  14. Wilson disease: pathogenesis and clinical considerations in diagnosis and treatment.

    PubMed

    Rosencrantz, Richard; Schilsky, Michael

    2011-08-01

    Nearly a century after Dr. Samuel Alexander Kinnier Wilson composed his doctoral thesis on the pathologic findings of "lenticular degeneration" in the brain associated with cirrhosis of the liver we know that the underlying molecular basis for this autosomal recessive inherited disorder that now bears his name is mutation of a copper transporting ATPase, ATP7B, an intracellular copper transporter mainly expressed in hepatocytes. Loss of ATP7B function is the basis for reduced hepatic biliary copper excretion and reduced incorporation of copper into ceruloplasmin. During the intervening years, there was recognition of the clinical signs, histologic, biochemical features, and mutation analysis of ATP7B that characterize and enable diagnosis of this disorder. These include the presence of signs of liver or neurologic disease and detection of Kayser-Fleischer rings, low ceruloplasmin, elevated urine and hepatic copper, and associated histologic changes in the liver. Medical therapies and liver transplantation can effectively treat patients with this once uniformly fatal disorder. The earlier detection of the disease led to the initiation of treatment to prevent disease progression and reverse pathologic findings if present, and family screening to detect the disorder in first-degree relatives is warranted. Gene therapy and hepatocyte cell transplantation for Wilson disease has only been tested in animal models but represent future areas for study. Despite all the advances we still have to consider the diagnosis of Wilson disease to test patients for this disorder and properly establish the diagnosis before committing to life-long treatment.

  15. Wilson disease: pathogenesis and clinical considerations in diagnosis and treatment.

    PubMed

    Rosencrantz, Richard; Schilsky, Michael

    2011-08-01

    Nearly a century after Dr. Samuel Alexander Kinnier Wilson composed his doctoral thesis on the pathologic findings of "lenticular degeneration" in the brain associated with cirrhosis of the liver we know that the underlying molecular basis for this autosomal recessive inherited disorder that now bears his name is mutation of a copper transporting ATPase, ATP7B, an intracellular copper transporter mainly expressed in hepatocytes. Loss of ATP7B function is the basis for reduced hepatic biliary copper excretion and reduced incorporation of copper into ceruloplasmin. During the intervening years, there was recognition of the clinical signs, histologic, biochemical features, and mutation analysis of ATP7B that characterize and enable diagnosis of this disorder. These include the presence of signs of liver or neurologic disease and detection of Kayser-Fleischer rings, low ceruloplasmin, elevated urine and hepatic copper, and associated histologic changes in the liver. Medical therapies and liver transplantation can effectively treat patients with this once uniformly fatal disorder. The earlier detection of the disease led to the initiation of treatment to prevent disease progression and reverse pathologic findings if present, and family screening to detect the disorder in first-degree relatives is warranted. Gene therapy and hepatocyte cell transplantation for Wilson disease has only been tested in animal models but represent future areas for study. Despite all the advances we still have to consider the diagnosis of Wilson disease to test patients for this disorder and properly establish the diagnosis before committing to life-long treatment. PMID:21901655

  16. Role of organic volatile profiles in clinical diagnosis

    SciTech Connect

    Zlatkis, A.; Brazell, R.S.; Poole, C.F.

    1981-06-01

    The organic volatile constituents of biological fluids contain clinically useful diagnostic information for the recognition of metabolic disorders in man. To gain access to this information, it was necessary to develop the methodology for reproducibly stripping the trace concentrations of volatiles from biological fluids (dynamic headspace, gas phase-stripping, solvent extraction, and the transevaporator technique), to separate the complex extracts by high-resolution capillary column gas chromatography, and to develop computer-aided data-handling and pattern-recognition techniques for analyzing the immense amount of information generated. The normal and pathological organic volatiles identified by gas chromatography-mass spectrometry in urine, serum, and breast milk are tabulated. Clinical applications of the above techniques to the study and diagnosis of diabetes mellitus, respiratory virus infection, renal insufficiency, and cancer are described.

  17. Environmental enteric dysfunction: pathogenesis, diagnosis, and clinical consequences.

    PubMed

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

    2014-11-01

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

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

    PubMed Central

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

    2014-01-01

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

  19. Isolated cardiac sarcoidosis: clinical characteristics, diagnosis and treatment.

    PubMed

    Isobe, Mitsuaki; Tezuka, Daisuke

    2015-03-01

    Sarcoidosis is a systemic disease characterized by the development of noncaseating epithelioid granulomas in multiple organs. Despite extensive investigations over a long period of time, the etiology of this disease remains unknown. Cardiac involvement of this disease is the most ominous complication leading to fatal outcome. Recently, attention has been focused on isolated cardiac sarcoidosis, which exists without clinically apparent sarcoidosis elsewhere. One of the critical issues of isolated cardiac sarcoidosis is difficulty in diagnosis, since existence of the cardiac lesion should be detected from cardiac manifestations alone. Because specificity of biomarkers or sensitivity of histological examination of biopsied sample is very low, diagnosis of isolated cardiac sarcoidosis mainly depends on imaging modalities. In this review article we summarized current knowledge on the pathogenesis of sarcoidosis, clinical features of cardiac sarcoidosis especially that isolated to the heart by showing some typical cases. Utilities and problems of diagnostic imaging tests for this condition including echocardiography, cardiac magnetic resonance imaging, and fluorodeoxyglucose-positron emission tomography are discussed. Advances in pharmacological and nonpharmacological treatment for cardiac sarcoidosis have improved the prognosis of cardiac sarcoidosis to a great deal; however, there are many issues that remain to be solved in the management of isolated cardiac sarcoidosis.

  20. Small Renal Masses: Incidental Diagnosis, Clinical Symptoms, and Prognostic Factors

    PubMed Central

    Sánchez-Martín, F. M.; Millán-Rodríguez, F.; Urdaneta-Pignalosa, G.; Rubio-Briones, J.; Villavicencio-Mavrich, H.

    2008-01-01

    Introduction. The small renal masses (SRMs) have increased over the past two decades due to more liberal use of imaging techniques. SRMs have allowed discussions regarding their prognostic, diagnosis, and therapeutic approach. Materials and methods. Clinical presentation, incidental diagnosis, and prognosis factors of SRMs are discussed in this review. Results. SRMs are defined as lesions less than 4 cm in diameter. SRM could be benign, and most malignant SMRs are low stage and low grade. Clinical symptoms like hematuria are very rare, being diagnosed by chance (incidental) in most cases. Size, stage, and grade are still the most consistent prognosis factors in (RCC). An enhanced contrast SRM that grows during active surveillance is clearly malignant, and its aggressive potential increases in those greater than 3 cm. Clear cell carcinoma is the most frequent cellular type of malign SRM. Conclusions. Only some SRMs are benign. The great majority of malign SRMs have good prognosis (low stage and grade, no metastasis) with open or laparoscopic surgical treatment (nephron sparing techniques). Active surveillance is an accepted attitude in selected cases. PMID:19165347

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

    PubMed

    May, Arne

    2013-10-01

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

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

    PubMed

    Olupot-Olupot, Peter

    2015-03-01

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

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

    PubMed

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

    2009-02-01

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

  4. Evaluating suspected work-related neurologic disorders (clinical diagnosis).

    PubMed

    Lotti, Marcello; Aminoff, Michael J

    2015-01-01

    The clinical diagnosis of work-related neurologic disorders is essentially one of exclusion because symptoms and signs are often nonspecific. The clinical reasoning requires a three-step approach: (1) establish the characteristics of the presenting disease; (2) ascertain that observed clinical features are consistent with those caused by the suspected agent(s); and (3) assess occupational exposures. A detailed history is of paramount importance in evaluating patients with suspected work-related neurologic disorders as it is in other clinical contexts, especially because in some circumstances it may represent the only criterion to establish causality. Thus, besides characterization of neurologic symptoms, including their location, quality, timecourse, and possible other associated symptoms, the work environment of the patient should be understood in full detail. In this respect, when a neurotoxin is suspected, then the history collection can be guided by the knowledge of the likely syndromes it produces. Similarly, physical examination should be directed to the target of toxicity/entrapment based on information from the work history. Although specific sites and elements of the nervous system may be affected depending on the offending agent, most neurotoxic disorders are characterized by generalized rather than focal neurologic abnormalities. Laboratory toxicologic tests have limited application for the etiologic diagnosis of neurotoxic disorders, except in cases of acute poisoning and in patients exposed to neurotoxic chemicals with prolonged half-life. In most cases examination takes place after the end of exposure, when the offending chemical is no longer detectable in body fluids. Electrophysiologic studies, in particular evoked potentials, electromyography, and conduction velocities, are important to confirm the organic basis of symptoms, particularly to detect subclinical or early neurologic involvement and to reduce the number of disorders to be considered in

  5. 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.

  6. Bacillary angiomatosis: microbiology, histopathology, clinical presentation, diagnosis and management.

    PubMed

    Ramírez Ramírez, C R; Saavedra, S; Ramírez Ronda, C

    1995-01-01

    Bacillary angiomatosis is known to be caused by a rickettsial organism; Rochalimaea henselae. This causative agent has been compared with different microorganisms and clinical conditions that appear in similar settings buy have been clearly differentiated from them; e.i. Cat-scratch disease (Afipia felis), Bartonella bacilliformis, other Rochalimaea sp., Kaposi's sarcoma, Lobular capillary hemangioma, Angiosarcoma, and Epithelioid hemangioma. Clinically the bacillary angiomatosis (BA) skin lesions vary from a single lesion to thousands. The cutaneous lesion appears as a bright-red round papule, subcutaneous nodule, or as a cellulitic plaque. When the lesion is biopsied it tends to blanch-out, bleed, and cause pain. The patient might present with signs and symptoms of chills, headaches, fever, malaise, and anorexia with or without weight loss. The extracutaneous lesions found in BA tend to be from multiple organs affecting from the oral lesions to anal mucosal lesions to widespread visceral lesions. The sites of preference for BA lesion manifestation tend to be the liver, spleen, lymph nodes, and bone. To diagnose bacillary angiomatosis the physician should prepare a differential diagnosis based primarily on its histopathological and clinical characteristics. To confirm the results from the stain, electron microscopy can identify the bacillus and pin-point the diagnosis of bacillary angiomatosis. The lesions presented by BA respond well to therapy with erythromycin 500 mg four times daily for a duration of 2 weeks to 2 months. In case of intolerance to erythromycin the second line of drug that successfully treats the BA bacillus is doxycyline. If relapses of the BA lesion recur, then a prolonged antibiotic therapy is necessary and in AIDS patients the duration may be extended as life-long suppressive therapy.

  7. Bacillary angiomatosis: microbiology, histopathology, clinical presentation, diagnosis and management.

    PubMed

    Ramírez Ramírez, C R; Saavedra, S; Ramírez Ronda, C H

    1996-01-01

    Bacillary angiomatosis is known to be caused by a rickettsial organism; Rochalimaea henselae. This causative agent has been compared with different microorganisms and clinical conditions that appear in similar settings but that have been clearly differentiated from them; e.i. Cat-scratch disease (Afipia felis), Bartonella bacilliformis, other Rochalimaea sp., Kaposi;s sarcoma, Lobular capillary hemangioma, Angiosarcoma, and Epithelioid hemangioma. Clinically the bacillary angiomatosis (BA) skin lesions vary from a single lesion to thousands. The cutaneous lesion appears as a bright-red round papule, subcutaneous nodule, or as a cellulitic plaque. When the lesion is biopsied it tends to blanch-out, bleed, and cause pain. The patient might present with signs and symptoms of chills, headaches, fever, malaise, and anorexia with or without weight loss. The extracutaneous lesions found in BA tend to be from multiple organs affecting from the oral lesions to anal mucosal lesions to widespread visceral lesions. The sites of preferences for BA lesion manifestation tend to be the liver, spleen, lymph nodes, and bone. To diagnose bacillary angiomatosis the physician should prepare a differential diagnosis based primarily on its histopathological and clinical characteristics. To confirm the results from the stain, electron microscopy can identify the bacillus and pin-point the diagnosis of bacillary angiomatosis. The lesions presented by BA respond well to therapy with erythromycin 500mg four times daily for a duration of 2 weeks to 2 months. In case of intolerance to erythromycin the second line of drug that successfully treats the BA bacillus is doxycycline. If relapses of the BA lesion recur, then a prolonged antibiotic therapy is necessary and in AIDS patients the duration may be extended as life-long suppressive therapy.

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

    PubMed Central

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

    2016-01-01

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

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

    PubMed Central

    Goldstein, Benjamin I.; Birmaher, Boris

    2016-01-01

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

  10. 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

  11. Accuracy of Clinical Diagnosis of Dengue Episodes in the RV144 HIV Vaccine Efficacy Trial in Thailand.

    PubMed

    Pitisuttithum, Punnee; Rerks-Ngarm, Supachai; Stablein, Donald; Dawson, Peter; Nitayaphan, Sorachai; Kaewkungwal, Jaranit; Michael, Nelson L; Kim, Jerome H; Robb, Merlin L; O'Connell, Robert J; Yoon, In-Kyu; Fernandez, Stefan; Excler, Jean-Louis

    2015-01-01

    RV144 was a community-based HIV vaccine efficacy trial conducted in HIV-uninfected adults in Thailand, where dengue virus continues to cause a large number of infections every year. We attempted to document the accuracy of clinically diagnosed dengue episodes reported as serious adverse events (SAEs) and adverse events (AEs) and examine whether dengue serology would support the clinical diagnosis. Subjects without a clinical dengue diagnosis but with an infection or idiopathic fever were selected as a control population. Dengue serology was performed by hemagglutination inhibition on plasma samples. A total of 124 clinical dengue episodes were reported (103 SAEs and 21 AEs). Overall 82.6% of the clinically diagnosed dengue episodes were supported by a positive dengue serology: 71.4% of the AEs and 85.0% of the SAEs. Of the 100 subjects with both clinical dengue and positive serology, all presented with fever, 83% with leucopenia, 54% with thrombocytopenia, and 27% with hemorrhagic symptoms. All episodes resolved spontaneously without sequellae. Only two of 15 subjects with a negative serology presented with fever. The sensitivity and specificity of clinical dengue diagnosis were 90.9% and 74.4%, respectively, when compared to the control population, and with a positive predictive value of 82.6% and negative predictive value of 84.7% when compared to dengue serology. Clinical diagnosis of dengue is an accurate method of dengue diagnosis in adults in Thailand. Large-scale clinical trials offer the opportunity to systematically study infectious diseases such as dengue and other infections that may occur during the trial.

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

    PubMed Central

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

    2015-01-01

    Transplant renal artery stenosis (TRAS) is a well-recognized vascular complication after kidney transplant. It occurs most frequently in the first 6 months after kidney transplant, and is one of the major causes of graft loss and premature death in transplant recipients. Renal hypoperfusion occurring in TRAS results in activation of the renin–angiotensin–aldosterone system; patients usually present with worsening or refractory hypertension, fluid retention and often allograft dysfunction. Flash pulmonary edema can develop in patients with critical bilateral renal artery stenosis or renal artery stenosis in a solitary kidney, and this unique clinical entity has been named Pickering Syndrome. Prompt diagnosis and treatment of TRAS can prevent allograft damage and systemic sequelae. Duplex sonography is the most commonly used screening tool, whereas angiography provides the definitive diagnosis. Percutaneous transluminal angioplasty with stent placement can be performed during angiography if a lesion is identified, and it is generally the first-line therapy for TRAS. However, there is no randomized controlled trial examining the efficacy and safety of percutaneous transluminal angioplasty compared with medical therapy alone or surgical intervention. PMID:25713713

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

    PubMed Central

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

    2015-01-01

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

  14. Clinical presentation of inappropriate sinus tachycardia and differential diagnosis.

    PubMed

    Peyrol, Michael; Lévy, Samuel

    2016-06-01

    Inappropriate sinus tachycardia (IST) is a syndrome characterized by a sinus tachycardia not related to a medical condition, to a physiological response, or to medication or drugs and associated with symptoms, often invalidating and altering the quality of life of affected patients. It occurs predominantly in adolescents and young adults, and in the female sex. The diagnosis requires a complete work-up in order to exclude other causes of sinus tachycardia and one or several additional tests: 24-h ECG ambulatory recordings, echocardiogram, exercise testing, and autonomous nervous system assessment. It should be differentiated from the postural orthostatic tachycardia syndrome, with which it shares a number of symptoms, and other supraventricular tachycardias originating in the high right atrium. An electrophysiological study should be considered in selected cases in order to differentiate IST from other supraventricular tachycardias. The mechanism is still unclear, and possible etiologies may include intrinsic abnormality of the sinus node, autonomic dysfunction, hypersensitivity of the sinus node to catecholamines, blunted vagal system, or a combination of the above. The authors emphasize the wide spectrum of clinical presentations and the need to better define the IST and the criteria required to ascertain its diagnosis. PMID:26329720

  15. Diagnosis and clinical course of canine oral papillomavirus infection.

    PubMed

    Bredal, W P; Thoresen, S I; Rimstad, E; Aleksandersen, M; Nafstad, P H

    1996-03-01

    A six-month-old intact male rottweiler presented with papillomatous growths protruding from the oral mucous membranes. A tentative diagnosis of canine oral papillomavirus (COPV) infection was made based on the gross appearance of the numerous lesions and the young age of the patient. Two warts from the oral mucosa were removed surgically for further diagnostic investigations. The viral aetiology of the diseases was confirmed by histopathological and electron microscopic findings, and by the identification of specific COPV DNA is removed oral papillomatous tissue. The patient was followed clinically and complete regression of the oral lesions occurred after four weeks. Neither the route of transmission nor the source of infection was found. Immunodeficiency as a contributing aetiological factor to the development of COPV-induced lesions as discussed. PMID:8683957

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

    PubMed Central

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

    1997-01-01

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

 PMID:9221959

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

    PubMed Central

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

    2015-01-01

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

  18. [Genomic diagnosis of thrombophilia in women: clinical relevance].

    PubMed

    Luxembourg, B; Lindhoff-Last, E

    2007-02-01

    The detection of the DNA-sequence of human coagulation factors and inhibitors has introduced the possibility of differentiated mutation analysis in patients with venous thrombosis. Since venous thromboembolism is a multifactorial disease, women are at an increased risk to develop venous thrombosis due to hormonal contraception, during pregnancy and the puerperium. In addition, pregnancy complications like early or late fetal loss, pregnancy-induced hypertensive disorders and very recently recurrent embryo implantation failure have been suspected to be associated with thrombophilia. Therefore, it is of major importance to define inherited thrombophilic disorders, in which genetic diagnosis is of clinical relevance. While most of the genetic defects described so far represent a risk factor for venous thrombosis, only a minority of these defects actually needs DNA analysis to be detected: mutation analysis is clinically relevant, when factor V Leiden mutation is suspected, because relative risks concerning venous thrombosis as well as pregnancy complications clearly differ between homozygote and heterozygote forms of this frequently observed mutation. Similarly detection of the prothrombin mutation G20210A is of clinical relevance, although data for the very rarely observed homozygote variant are not sufficiently available. In contrast, detection of the homozygote variant of the MTHFR-mutation C677T is not useful, since clinical relevance could not be proven in a majority of studies concerning women specific risk situations. Inherited deficiencies of antithrombin, protein C and protein S are rare with high rates of different mutations. Genetic analysis seems only useful in patients with wide intraindividual variations of coagulation inhibitor activities. Genetic analysis concerning the PAI-1 4G/5G polymorphism or the factor XIII Val34Leu polymorphism can not be recommended in women specific risk situations because of insufficient data. PMID:17279273

  19. [Cutaneous radiation syndrome: clinical features, diagnosis and therapy].

    PubMed

    Gottlöber, P; Krähn, G; Peter, R U

    2000-08-01

    Accidental exposure to ionizing radiation may occur during such catastrophic events as the Chernobyl accident in 1986 or over days to weeks as in Goiania in 1987 and in the military camp during the training of soldiers in Lilo/Georgia in 1997, as well as in medical institutions. The cutaneous symptoms after radiation exposure are based on a combination of inflammatory processes and alteration of cellular proliferation as a result of a specific pattern of transcriptionally activated proinflammatory cytokines and growth factors. They follow a time course consisting of prodromal erythema, latency period, acute stage, chronic stage and late stage. The entire complex is referred to as cutaneous radiation syndrome. The time course depends on several factors such as the radiation dose, radiation quality, individual radiation sensitivity, the extent of contamination and absorption and amount of skin exposed. For the diagnosis of the cutaneous radiation syndrome the following procedures are used: 7.5 MHz to 20 MHz-B-scan sonography, thermography, capillary microscopy, profilometry, nuclear magnetic resonance imaging, bone scintigraphy and histology. Based on the results of experimental and clinical research, today treatment may include topical or systemic corticosteroids, gamma-interferon, pentoxifylline, vitamin E and superoxide dismutase. The treatment depends on the stage of the cutaneous radiation syndrome. Due to the complexity of the clinical manifestations of radiation disease, most patients require interdisciplinary treatment in specialized centres. Dermatologists are essential partners in the life-long follow-up and therapy of such patients.

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

    PubMed

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

    2015-01-01

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

  1. Evaluation of electronic biopsy for clinical diagnosis in virtual colonoscopy

    NASA Astrophysics Data System (ADS)

    Marino, Joseph; Du, Wei; Barish, Matthew; Li, Ellen; Zhu, Wei; Kaufman, Arie

    2011-03-01

    Virtual colonoscopy provides techniques not available in optical colonoscopy, an exciting one being the ability to perform an electronic biopsy. An electronic biopsy image is created using ray-casting volume rendering of the CT data with a translucent transfer function mapping higher densities to red and lower densities to blue. The resulting image allows the physician to gain insight into the internal structure of polyps. Benign tissue and adenomas can be differentiated; the former will appear as homogeneously blue and the latter as irregular red structures. Although this technique is now common, is included with clinical systems, and has been used successfully for computer aided detection, there has so far been no study to evaluate the effectiveness of a physician using electronic biopsy in determining the pathological state of a polyp. We present here such a study, wherein an experienced radiologist ranked polyps based on electronic biopsy alone per scan (supine and prone), as well as both combined. Our results show a correct identification 77% of the time using prone or supine images alone, and 80% accuracy using both. Using ROC analysis based on this study with one reader and a modest sample size, the combined score is not significantly higher than using a single electronic biopsy image alone. However, our analysis indicates a trend of superiority for the combined ranking that deserves a follow-up confirmatory study with a larger sample and more readers. This study yields hope that an improved electronic biopsy technique could become a primary clinical diagnosis method.

  2. Diagnosis and comprehensive treatment of esophageal leiomyoma: clinical analysis of 77 patients.

    PubMed

    Wang, Yun-Xi; Zhang, Jing; Liu, Yi; Liu, Yang; Chu, Xiang-Yang; Lu, Zhong-Sheng; Wang, Zhan-Bo; Tong, Xin-Yuan

    2015-01-01

    To investigate the diagnosis and comprehensive treatment of esophageal leiomyoma. The clinical data of 77 cases of esophageal leiomyoma patients were analyzed between 2005 and 2013. Its diagnosis, treatment and prognosis were analyzed. 39 cases of patients were with eating choking feeling, 18 cases presented with chest pain and weight loss and 20 cases without any symptoms. Preoperative endoscopic ultrasonography of each patient was diagnosed as possibility of esophageal submucosal tumor. 3 All patients underwent tumor enucleation, in which tumor electrotomy under gastroscope were done for 2 cases, complete video-assisted thoracoscopic (CVATS) resection of tumor for 24 cases, thoracoscope assisted small incision tumor resection for 29 cases, conventional thoracic tumor resection for 22 cases. The comparison and the difference of complete video-assisted thoracoscopic surgery group and the thoracoscope assisted small incision group for the operation time, bleeding volume, drainage volume, extubation time, hospitalization time and fasting time were not statistically significant (P < 0.05). All the patients recovered well and postoperative pathology of each patient was esophageal leiomyoma. They were followed up for 6 months to 8 years, average for 4 years, not recurrence of esophageal leiomyoma. Endoscopic ultrasonography is the most accurate method in diagnosis of esophageal leiomyoma. Esophageal leiomyoma which less than 1.0 cm in diameter, regular shape, originated in the muscularis mucosa, endoscopic electrotomy can be used as the preferred; Surgical operation is the main treatment of esophageal leiomyoma, three kinds of operation way has its own corresponding clinical indications, according to the clinical characteristics of patients and operator' habits to choose the corresponding operation way, all can achieve good treatment effect. PMID:26770314

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

    PubMed

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

    2014-11-01

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

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

    PubMed

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

    2014-11-01

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

  5. Rapid, accurate, and comparative differentiation of clinically and industrially relevant microorganisms via multiple vibrational spectroscopic fingerprinting.

    PubMed

    Muhamadali, Howbeer; Subaihi, Abdu; Mohammadtaheri, Mahsa; Xu, Yun; Ellis, David I; Ramanathan, Rajesh; Bansal, Vipul; Goodacre, Royston

    2016-08-15

    Despite the fact that various microorganisms (e.g., bacteria, fungi, viruses, etc.) have been linked with infectious diseases, their crucial role towards sustaining life on Earth is undeniable. The huge biodiversity, combined with the wide range of biochemical capabilities of these organisms, have always been the driving force behind their large number of current, and, as of yet, undiscovered future applications. The presence of such diversity could be said to expedite the need for the development of rapid, accurate and sensitive techniques which allow for the detection, differentiation, identification and classification of such organisms. In this study, we employed Fourier transform infrared (FT-IR), Raman, and surface enhanced Raman scattering (SERS) spectroscopies, as molecular whole-organism fingerprinting techniques, combined with multivariate statistical analysis approaches for the classification of a range of industrial, environmental or clinically relevant bacteria (P. aeruginosa, P. putida, E. coli, E. faecium, S. lividans, B. subtilis, B. cereus) and yeast (S. cerevisiae). Principal components-discriminant function analysis (PC-DFA) scores plots of the spectral data collected from all three techniques allowed for the clear differentiation of all the samples down to sub-species level. The partial least squares-discriminant analysis (PLS-DA) models generated using the SERS spectral data displayed lower accuracy (74.9%) when compared to those obtained from conventional Raman (97.8%) and FT-IR (96.2%) analyses. In addition, whilst background fluorescence was detected in Raman spectra for S. cerevisiae, this fluorescence was quenched when applying SERS to the same species, and conversely SERS appeared to introduce strong fluorescence when analysing P. putida. It is also worth noting that FT-IR analysis provided spectral data of high quality and reproducibility for the whole sample set, suggesting its applicability to a wider range of samples, and perhaps the

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

    PubMed Central

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

    2015-01-01

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

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

    PubMed Central

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

    2014-01-01

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

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

    PubMed Central

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

    2016-01-01

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

  9. Acquired hemophilia a: diagnosis, aetiology, clinical spectrum and treatment options.

    PubMed

    Shetty, Shrimati; Bhave, Manali; Ghosh, Kanjaksha

    2011-04-01

    Acquired hemophilia A (AHA) is a rare disorder with an incidence of approximately 1 per million/year with a high mortality rate of more than 20%. The disease occurs due to autoantibodies against coagulation factor VIII (FVIII) which neutralize its procoagulant function and result in severe, often life-threatening bleeding. The antibodies arise in individuals with no prior history of hemophilia A. AHA may be associated with pregnancy, autoimmune diseases, malignancy, infections or medication and occurs most commonly in the elderly. Approximately 50% of the patients remain idiopathic with no known underlying pathological condition. Clinical manifestations include spontaneous hemorrhages into the skin, muscles or soft tissues or excessive bleeding during surgery. Hemarthrosis which is the hallmark of congenital severe hemophilia A seldom occurs in AHA. The diagnosis of AHA is based on the isolated prolongation of activated partial thromboplastin time (APTT) which does not normalize after the addition of normal plasma along with reduced FVIII levels. The treatment involves two aspects-eradication of antibodies and maintaining effective hemostasis during a bleeding episode. The protocols for eradication of antibodies include immunoadsorption, immunosuppression or immune tolerance induction (ITI). The treatment of acute bleeding episodes involves use of different bypassing agents like recombinant activated factor VIIa (rFVIIa, NovoSeven®) and activated prothrombin complex concentrate (aPCC, (FEIBA®) in case of patients with high titer inhibitors or with antifibrinolytics,1-deamino-8-D-arginine vasopressin (DDAVP) or FVIII concentrates in low titer inhibitor patients. The anti CD20 monoclonal antibody, rituximab, has shown very good results either singly or in combination with immunosuppressive regimens in patients who do not respond to standard immunosuppressors. The present review summarizes the diagnostic, aetiological, clinical and treatment aspects of AHA focusing

  10. Spinal Cord Hemangioblastoma : Diagnosis and Clinical Outcome after Surgical Treatment

    PubMed Central

    Na, Joon Ho; Kim, Hyeong Soo; Eoh, Whan; Kim, Jong Hyun; Kim, Jong Soo

    2007-01-01

    Objective Spinal cord hemangioblastoma is an uncommon vascular neoplasm with a benign nature and is associated with von Hippel-Lindau (VHL) disease in 20-30% of patients. Total removal of these tumors without significant neurological deficit remains a great challenge. The purpose of this study was to investigate the efficacy of VHL mutation analysis and to evaluate surgical outcome of patients with spinal cord hemangioblastomas. Methods This study included nine patients treated for spinal cord hemangioblastomas at our institute between December 1994 and March 2006. There were four male and five female patients. Mean age was 37.8 years. The mean follow-up period was 22.4 months. Magnetic resonance imaging (MRI) of the complete neuraxis was done in all cases and VHL mutation analysis was performed in three cases for a definite diagnosis. Results Six patients had intramedullary tumor, and the remaining patients had intradural extramedullary lesions. Five patients were associated with VHL disease. The von Hippel-Lindau mutation analysis was done in three patients and two of them showed VHL gene abnormality. Tumors were located in the cervical cord in five cases and in the thoracic cord in four cases. All patients underwent surgical intervention, and total removal was achieved in six cases. All patients showed improvement or, at least, clinically stationary state. Surgical complications did not develop in any cases. Conclusion Spinal hemangioblastoma in this series has been safely and effectively removed via a posterior approach. Postoperatively, clinical outcome was excellent in the majority of cases. The VHL mutation analysis was useful in patients with family history and in those with multiple hemangioblastomas. PMID:19096585

  11. Clinical Presentation, Pathogenesis, Diagnosis, and Treatment of Epidermolysis Bullosa Acquisita

    PubMed Central

    Ludwig, Ralf J.

    2013-01-01

    Epidermolysis bullosa acquisita (EBA) is a chronic mucocutaneous autoimmune skin blistering disease. The pathogenic relevance of autoantibodies targeting type VII collagen (COL7) has been well-documented. Therefore, EBA is a prototypical autoimmune disease with a well-characterized pathogenic relevance of autoantibody binding to the target antigen. EBA is a rare disease with an incidence of 0.2 new cases per million and per year. The current treatment of EBA relies on general immunosuppressive therapy, which does not lead to remission in all cases. Therefore, there is a high, so far unmet medical need for the development of novel therapeutic options. During the last 10 years, several novel in vitro and in vivo models of EBA have been established. These models demonstrated a critical role of the genetic background, T cells, and cytokines for mediating the loss of tolerance towards COL7. Neutrophils, complement activation, Fc gamma receptor engagement, cytokines, several molecules involved in cell signaling, release of reactive oxygen species, and matrix metalloproteinases are crucial for autoantibody-induced tissue injury in EBA. Based on this growing understanding of the diseases' pathogenesis, several potential novel therapeutic targets have emerged. In this review, the clinical presentation, pathogenesis, diagnosis, and current treatment options for EBA are discussed in detail. PMID:23956869

  12. [Reestablishment of the clinical diagnosis in vascular acrosyndromes].

    PubMed

    Vayssairat, M; Baudot, N; Priollet, P

    1988-01-01

    Raynaud's phenomenon (RP) is very frequent with a prevalence of 4% in a general population. Its evaluation has to be simple noninvasive and cheap. The only difficulty is to differentiate early primary RP from secondary RP that may evolve principally to a connective tissue disorder. Two questions have to be solved 1--Is it a primary or a secondary RP? 2--In case of secondary RP how to obtain a more precise diagnosis? Clinical examination alone is able to give a response for question 1 with 76% of reliability. Information has to be collected about sex, age at onset, occupation, uni or bilaterality of the disability, thumb involvement and drug consumption. Physician has to examine skin carefully, pulses, arterial bruits, heart, lungs, the time of return of color of digits after squeezing the blood out of the hand by clenching with and without compression of the radial and/or the cubital artery. Inquiries should be made about visceral involvement: oesophageal dysfunction, dyspnea, sicca syndrome, thyroiditis or polyneuritis that rule out a primary form of Raynaud's phenomenon. PMID:3346618

  13. Clinical presentation, pathogenesis, diagnosis, and treatment of epidermolysis bullosa acquisita.

    PubMed

    Ludwig, Ralf J

    2013-01-01

    Epidermolysis bullosa acquisita (EBA) is a chronic mucocutaneous autoimmune skin blistering disease. The pathogenic relevance of autoantibodies targeting type VII collagen (COL7) has been well-documented. Therefore, EBA is a prototypical autoimmune disease with a well-characterized pathogenic relevance of autoantibody binding to the target antigen. EBA is a rare disease with an incidence of 0.2 new cases per million and per year. The current treatment of EBA relies on general immunosuppressive therapy, which does not lead to remission in all cases. Therefore, there is a high, so far unmet medical need for the development of novel therapeutic options. During the last 10 years, several novel in vitro and in vivo models of EBA have been established. These models demonstrated a critical role of the genetic background, T cells, and cytokines for mediating the loss of tolerance towards COL7. Neutrophils, complement activation, Fc gamma receptor engagement, cytokines, several molecules involved in cell signaling, release of reactive oxygen species, and matrix metalloproteinases are crucial for autoantibody-induced tissue injury in EBA. Based on this growing understanding of the diseases' pathogenesis, several potential novel therapeutic targets have emerged. In this review, the clinical presentation, pathogenesis, diagnosis, and current treatment options for EBA are discussed in detail.

  14. Gummy smile: clinical parameters useful for diagnosis and therapeutical approach.

    PubMed

    Monaco, Annalisa; Streni, Oriana; Marci, Maria Chiara; Marzo, Giuseppe; Gatto, Roberto; Giannoni, Mario

    2004-01-01

    In the analysis of the characteristics of a pleasant smile, a gummy smile has negative components, which most affect the esthetics of non-verbal communication. For this purpose a proposed classification based upon etiopathogenetic criteria as useful indications for a therapeutical approach is given. The nature of a high smile line can be: dento-gingival, connected to an abnormal dental eruption, which is revealed by a short clinic crown; muscular, caused by an hyperactivity of the elevator muscle of the upper lip; dento-alveolar (skeletal), due to an excessive protuberance or vertical growth of the jawbone (maxillary); lastly, a mixed nature, in the presence of more than one of the above described factors The diagnosis of gummy smile must be precocious and based, with reference to specific parameters, upon a careful analysis of the etiopathogenetic factors and the degree of seriousness of the alteration. A correct treatment plan must contemplate the possibility of an orthognatodontic, orthopedic and/or surgical therapeutic resolution considering the seriousness and complexity of the gums exposures (high smile line) in connection with the age of the subject.

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

    PubMed Central

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

    2013-01-01

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

  16. Is the Posner Reaction Time Test More Accurate Than Clinical Tests in Detecting Left Neglect in Acute and Chronic Stroke?

    PubMed Central

    Rengachary, Jennifer; d'Avossa, Giovanni; Sapir, Ayelet; Shulman, Gordon L.; Corbetta, Maurizio

    2013-01-01

    Objective To compare the accuracy of common clinical tests for left neglect with that of a computerized reaction time Posner test in a stroke population. Design Neglect measures were collected longitudinally in stroke patients at the acute (≈2wk) and chronic (≈9mo) stage. Identical measures were collected in a healthy control group. Setting Inpatient and outpatient rehabilitation. Participants Acute stroke patients (n=59) with left neglect, 30 of whom were tested longitudinally; healthy age-matched controls (n=30). Interventions Not applicable. Main Outcome Measures A receiver operating characteristic analysis, ranking the measures' sensitivity and specificity using a single summary statistic. Results Most clinical tests were adequately accurate at the acute stage, but many were near chance at the chronic stage. The Posner test was the most sensitive test at both stages, the most sensitive variable being the reaction time difference for detecting targets appearing on the left compared to the right side. Conclusions Computerized reaction time tests can be used to screen for subtle but potentially clinically relevant left neglect, which may not be detectable by conventional clinical tests, especially at the chronic stage. Such tests may be useful to assess the severity of the patients' deficits and provide more accurate measures of the degree of recovery in clinical trials than established clinical measures. PMID:19969172

  17. Influenza diagnosis and treatment: a view from clinical practice.

    PubMed Central

    Fleming, D M

    2001-01-01

    Influenza is a descriptive term for respiratory epidemic disease presenting with cough and fever. Influenza viruses are probably the most important of the pathogens that cause this condition. Clinical influenza occurs almost every winter in England and Wales and the outbreaks last 8-10 weeks. In recent years, influenza B virus outbreaks have occurred in January and February, whereas influenza H3N2 virus outbreaks have generally started long before Christmas. Influenza H3N2 virus outbreaks pressurize health service resources in winter more than influenza B viruses, that do not have the same impact in elderly people. Infections with influenza H1N1 viruses are also usually less severe in their impact than those with influenza H3N2 viruses, but, unlike influenza B viruses, influenza H1N1 viruses have a pandemic potential along with influenza H3N2 viruses. A diagnosis of respiratory infection in primary care is based on the presenting symptoms set within the context of the current pattern of consultations of patients with similar illness. Measurement of temperature, inspection of the throat and examination of the chest or ears add a little to the diagnostic process, but in general these procedures do not help in identifying the organism. However, if it is known that influenza viruses are circulating in the community, the probability of influenza as the cause is greatly increased, as was shown in clinical trials of neuraminidase antivirals. Maximum confusion occurs when respiratory syncytial virus (RSV) and influenza cocirculate. Although RSV infection can occur throughout the winter in young children, it assumes more of an epidemic character just before Christmas in children and possibly in adults just after. During seven of the last 20 winters, influenza has been prevalent around Christmas/New Year. In routine virological surveillance of influenza-like illness in the community during the winters of 1997, 1998 and 1999, ca. 30% of swab specimens yielded influenza

  18. Influenza diagnosis and treatment: a view from clinical practice.

    PubMed

    Fleming, D M

    2001-12-29

    Influenza is a descriptive term for respiratory epidemic disease presenting with cough and fever. Influenza viruses are probably the most important of the pathogens that cause this condition. Clinical influenza occurs almost every winter in England and Wales and the outbreaks last 8-10 weeks. In recent years, influenza B virus outbreaks have occurred in January and February, whereas influenza H3N2 virus outbreaks have generally started long before Christmas. Influenza H3N2 virus outbreaks pressurize health service resources in winter more than influenza B viruses, that do not have the same impact in elderly people. Infections with influenza H1N1 viruses are also usually less severe in their impact than those with influenza H3N2 viruses, but, unlike influenza B viruses, influenza H1N1 viruses have a pandemic potential along with influenza H3N2 viruses. A diagnosis of respiratory infection in primary care is based on the presenting symptoms set within the context of the current pattern of consultations of patients with similar illness. Measurement of temperature, inspection of the throat and examination of the chest or ears add a little to the diagnostic process, but in general these procedures do not help in identifying the organism. However, if it is known that influenza viruses are circulating in the community, the probability of influenza as the cause is greatly increased, as was shown in clinical trials of neuraminidase antivirals. Maximum confusion occurs when respiratory syncytial virus (RSV) and influenza cocirculate. Although RSV infection can occur throughout the winter in young children, it assumes more of an epidemic character just before Christmas in children and possibly in adults just after. During seven of the last 20 winters, influenza has been prevalent around Christmas/New Year. In routine virological surveillance of influenza-like illness in the community during the winters of 1997, 1998 and 1999, ca. 30% of swab specimens yielded influenza

  19. The clinical characteristics of Werner syndrome: molecular and biochemical diagnosis

    PubMed Central

    Muftuoglu, Meltem; Oshima, Junko; von Kobbe, Cayetano; Cheng, Wen-Hsing; Leistritz, Dru F.; Bohr, Vilhelm A.

    2015-01-01

    Werner syndrome (WS) is an adult onset segmental progeroid syndrome caused by mutations in the WRN gene. The WRN gene encodes a 180 kDa nuclear protein that possesses helicase and exonuclease activities. The absence of WRN protein leads to abnormalities in various DNA metabolic pathways such as DNA repair, replication and telomere maintenance. Individuals with WS generally develop normally until the third decade of life, when premature aging phenotypes and a series of age-related disorders begin to manifest. In Japan, where a founder effect has been described, the frequency of Werner heterozygotes appears to be as high as 1/180 in the general population. Due to the relatively non-specific nature of the symptoms and the lack of awareness of the condition, this disease may be under-diagnosed in other parts of the world. Genetic counseling of WS patients follows the path of other autosomal recessive disorders, with special attention needed for cancer surveillance in relatives. Molecular diagnosis of WS is made by nucleotide sequencing and, in some cases, protein analysis. It is also of potential interest to measure WRN activities in WS patients. More than 50 different disease-causing mutations in the WRN gene have been identified in WS patients from all over the world. All but one of these cases has mutations that result in the premature termination of the protein. Here we describe the clinical, molecular and biochemical characteristics of WS for use by medical professionals in a health care setting. Additional information is available through the International Registry of WS (http://www.wernersyndrome.org). PMID:18810497

  20. Inflammatory myopathy: diagnosis and clinical course, specific clinical scenarios and new complementary tools.

    PubMed

    Selva-O'Callaghan, Albert; Trallero-Araguás, Ernesto; Martínez, Maria Angeles; Labrador-Horrillo, Moises; Pinal-Fernández, Iago; Grau-Junyent, Josep Maria; Juárez, Candido

    2015-06-01

    Idiopathic inflammatory myopathies are a heterogeneous group of rare autoimmune diseases characterized by symmetric proximal muscle weakness and inflammatory infiltrates on muscle biopsy. A meticulously collected combination of clinical, serological, and pathological data is essential to correctly diagnose and classify myositis patients, often a considerable challenge for clinicians. This article provides a comprehensive overview of the most useful tools for the diagnosis and follow-up of patients with myositis. Capillaroscopy, serological biomarkers (particularly the autoantibody profile) and imaging techniques, such as muscle magnetic resonance and chest ultrasound, are of great aid in diagnosing, classifying and managing these patients. Relevant clinical scenarios, such as interstitial lung disease, associated cancer and pregnancy are also addressed in this review. Myositis registries, identification of new autoantibodies, and genetic studies will enhance our understanding of the pathogenesis of these conditions and help to define new diagnostic and therapeutic approaches.

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

    PubMed Central

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

    2016-01-01

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

  2. 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…

  3. 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. PMID:26517180

  4. Can script concordance testing be used in nursing education to accurately assess clinical reasoning skills?

    PubMed

    Dawson, Tyia; Comer, Linda; Kossick, Mark A; Neubrander, Judy

    2014-05-01

    The Script Concordance Test (SCT) has been used successfully in medical schools to assess clinical reasoning in medical students, but it has not been widely used in nursing education. The purpose of this study was to provide additional evidence of the validity and reliability of the SCT in evaluating clinical reasoning in nursing students by replicating a previous study. The test was administered to 48 first-year Bachelor of Science in Nursing students. A scoring grid was developed using the aggregate scores method based on the modal responses of 13 panel members. The reliability of the scores was measured by Cronbach's alpha coefficient, and the scores of the students and the panel were compared using a t test. The difference between the panel's and the students' scores was statistically significant, and the reliability of the scores is high. The SCT provides a reliable, standardized, and easy-to-administer method of evaluating clinical reasoning in nursing students.

  5. Bacteremia with Streptococcus bovis and Streptococcus salivarius: clinical correlates of more accurate identification of isolates.

    PubMed Central

    Ruoff, K L; Miller, S I; Garner, C V; Ferraro, M J; Calderwood, S B

    1989-01-01

    Two biotypes of Streptococcus bovis can be identified by laboratory testing and can be distinguished from the phenotypically similar organism Streptococcus salivarius. We assessed the clinical relevance of careful identification of these organisms in 68 patients with streptococcal bacteremia caused by these similar species. S. bovis was more likely to be clinically significant when isolated from blood (89%) than was S. salivarius (23%). There was a striking association between S. bovis I bacteremia and underlying endocarditis (94%) compared with that of S. bovis II bacteremia (18%). Bacteremia with S. bovis I was also highly correlated with an underlying colonic neoplasm (71% of patients overall, 100% of those with thorough colonic examinations) compared with bacteremia due to S. bovis II or S. salivarius (17% overall, 25% of patients with thorough colonic examinations). We conclude that careful identification of streptococcal bacteremic isolates as S. bovis biotype I provides clinically important information and should be more widely applied. PMID:2915024

  6. An universal and accurate replica technique for scanning electron microscope study in clinical dentistry.

    PubMed

    Lambrechts, P; Vanherle, G; Davidson, C

    1981-09-01

    One of the main concerns of dental research is the observation of the oral tissues and the materials applied to the dentition. The changes in composition and structure of the outer surfaces and the materials deposited on these surfaces are of special interest. In the literature, a variety of replica techniques for these purposes is described (Grundy in 1971 [12]; Saxton in 1973 [25]). The use of these techniques is limited because of artifacts in the samples, and a restricted resolution power resulting from useful magnifications in the order of 800x. An accurate and universal replica technique for the examination of specimens to be viewed under the SEM has been developed. The first impression is made by a light body silicone elastomer (President Coltene). The positive replica is made by electrodeposition of copper in an electro plating bath (Acru plat 5 electronic, Dr. Th. Wieland, D-7530 Pforzheim). The reliability and accuracy of this replica technique was verified by a scanning electron microscopic comparison of the replicas and the actual structures of etched enamel. To illustrate the applicability of the replica technique to structures with much lower hardness, also high resolution images of dental plaque were produced. The copper surface offers a perfect, original and proper electroconductive medium that withstands the bombardment of electrons and the relatively severe conditions in the scanning electron microscope. Reproducibility was accurate as judged by the duplication in position, size, and shape of the fine detail at magnifications of 7500x offering a resolution of 25 nm.

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

    PubMed

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

    1991-05-01

    The authors report two cases of achondrogenesis, the first of which was diagnosed in utero. Ultrasonographic abnormalities suggested the diagnosis, which was confirmed radiographically. The diagnosis of achondrogenesis in utero made it possible to avoid a Cesarian. It is always difficult to extract the malformed fetus. The histopathology findings make it possible to codify this rare type of congenital and lethal chondrodysplasia. Achondrogenesis is probably inherited in a recessive and autosomic fashion. PMID:1871502

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

    PubMed

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

    2016-10-01

    Tachycardia-induced cardiomyopathy (TIC) is a treatable cause of heart failure in children, but there is little information as to which clinical variables best discriminate TIC from other forms of cardiomyopathy. TIC cases with dilated cardiomyopathy (DC) from 16 participating centers were identified and compared with controls with other forms of DC. Presenting clinical, echocardiographic, and electrocardiographic characteristics were collected. Heart rate (HR) percentile was defined as HR/median HR for age, and PR index as the PR/RR interval. P-wave morphology (PWM) was defined as possible sinus or nonsinus based on a predefined algorithm. Eighty TIC cases and 135 controls were identified. Cases demonstrated lower LV end-diastolic diameter and LV end-systolic diameter than DC controls (4.3 vs 6.5, p <0.001; 7.4 vs 10.9, p <0.001) and were less likely to receive inotropic medication at presentation (p <0.001 for both). Multivariable logistic regression identified HR percentile (OR 2.1 per 10% increase, CI 1.3 to 4.6; p = 0.014), PR index (OR 1.2, CI 1.1 to 1.4; p = 0.004), and nonsinus PWM (OR 104.9, CI 15.2 to 1,659.8; p <0.001) as predictive of TIC status. A risk score using HR percentile >130%, PR index >30%, and nonsinus PWM was associated with a sensitivity of 100% and specificity of 87% for the diagnosis of TIC. Model training and validation area under the curves were similar at 0.97 and 0.94, respectively. In conclusion, pediatric TIC may be accurately discriminated from other forms of DC using simple electrocardiographic parameters. This may allow for rapid diagnosis and early treatment of this condition. PMID:27515893

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

    NASA Astrophysics Data System (ADS)

    Bartsch, Adam; Samorezov, Sergey

    2013-05-01

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

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

    PubMed

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

    2014-01-01

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

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

    ERIC Educational Resources Information Center

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

    2007-01-01

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

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

    PubMed

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

    2015-12-01

    Dyskinesia of the scapula is a clinical diagnosis and includes all disorders affecting scapula positioning and movement whatever its etiology. Scapular winging is a subtype of scapular dyskinesia due to a dynamic prominence of the medial border of the scapula (DSW) secondary to neuromuscular imbalance in the scapulothoracic stabilizer muscles. The two most common causes of DSW are microtraumatic or idiopathic lesions of the long thoracic nerve (that innerves the serratus anterior) or the accessory nerve (that innerves the trapezius). Diagnosis of DSW is clinical and electromyographic. Use of magnetic resonance imaging (MRI) could be of interest to distinguish lesion secondary to a long thoracic nerve from accessory nerve and to rule out scapular dyskinesia related to other shoulder disorders. Causal neuromuscular lesion diagnosis in DSW is challenging. Clinical examinations, combined with scapular MRI, could help to their specific diagnosis, determining their stage, ruling out differential diagnosis and thus give raise to more targeted treatment. PMID:26433832

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

    PubMed

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

    2015-12-01

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

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

    PubMed Central

    Raff, Hershel; Carroll, Ty

    2015-01-01

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

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

    PubMed

    Magistroni, Riccardo; Izzi, Claudia; Scolari, Francesco

    2016-01-01

    Autosomal dominant polycystic kidney disease (ADPKD) is the most common genetic disorder related to kidney. ADPKD is usually easy to diagnose in people who have a family history of ADPKDs developing typical symptoms, including flank, abdominal pain or macroscopic hematuria. In this setting, diagnosis in adults at risk for ADPKD is commonly performed by ultrasonography, which reveals two enlarged kidneys with multiple bilateral cysts. ADPKD may be more difficult to diagnose in the absence of family history or in subjects with atypical presentation, including asymmetric or focal renal imaging findings, discordant disease within family, early onset of ADPKD and development of ESRD before 30 yr of age. The presence of a total of three or more renal cysts for at-risk subjects aged 15-39 years and two cysts or more in each kidney for at-risk subjects aged 40-59 years are sufficient for the diagnosis of ADPKD. The absence of any renal cyst is sufficient for disease exclusion only for at-risk subjects aged 40 years or older. If the family history is negative, the diagnosis of ADPKD can be made in a patient with enlarged kidneys, numerous cysts, presence of liver cysts and absence of findings suggesting a different cystic disease. If the imaging diagnosis is not clear or showing atypical manifestations in subjects, molecular genetic testing should be performed. PMID:27067212

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

    PubMed

    Raff, Hershel; Carroll, Ty

    2015-02-01

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

  17. Recommendations for accurate CT diagnosis of suspected acute aortic syndrome (AAS)—on behalf of the British Society of Cardiovascular Imaging (BSCI)/British Society of Cardiovascular CT (BSCCT)

    PubMed Central

    Nicol, Edward; Morgan-Hughes, Gareth; Roobottom, Carl A; Roditi, Giles; Hamilton, Mark C K; Bull, Russell K; Pugliese, Franchesca; Williams, Michelle C; Stirrup, James; Padley, Simon; Taylor, Andrew; Davies, L Ceri; Bury, Roger; Harden, Stephen

    2016-01-01

    Accurate and timely assessment of suspected acute aortic syndrome is crucial in this life-threatening condition. Imaging with CT plays a central role in the diagnosis to allow expedited management. Diagnosis can be made using locally available expertise with optimized scanning parameters, making full use of recent advances in CT technology. Each imaging centre must optimize their protocols to allow accurate diagnosis, to optimize radiation dose and in particular to reduce the risk of false-positive diagnosis that may simulate disease. This document outlines the principles for the acquisition of motion-free imaging of the aorta in this context. PMID:26916280

  18. NEOCIVET: Towards accurate morphometry of neonatal gyrification and clinical applications in preterm newborns.

    PubMed

    Kim, Hosung; Lepage, Claude; Maheshwary, Romir; Jeon, Seun; Evans, Alan C; Hess, Christopher P; Barkovich, A James; Xu, Duan

    2016-09-01

    Cerebral cortical folding becomes dramatically more complex in the fetal brain during the 3rd trimester of gestation; the process continues in a similar fashion in children who are born prematurely. To quantify this morphological development, it is necessary to extract the interface between gray matter and white matter, which is particularly challenging due to changing tissue contrast during brain maturation. We employed the well-established CIVET pipeline to extract this cortical surface, with point correspondence across subjects, using a surface-based spherical registration. We then developed a variant of the pipeline, called NEOCIVET, that quantified cortical folding using mean curvature and sulcal depth while addressing the well-known problems of poor and temporally-varying gray/white contrast as well as motion artifact in neonatal MRI. NEOCIVET includes: i) a tissue classification technique that analyzed multi-atlas texture patches using the nonlocal mean estimator and subsequently applied a label fusion approach based on a joint probability between templates, ii) neonatal template construction based on age-specific sub-groups, and iii) masking of non-interesting structures using label-fusion approaches. These techniques replaced modules that might be suboptimal for regional analysis of poor-contrast neonatal cortex. The proposed segmentation method showed more accurate results in subjects with various ages and with various degrees of motion compared to state-of-the-art methods. In the analysis of 158 preterm-born neonates, many with multiple scans (n=231; 26-40weeks postmenstrual age at scan), NEOCIVET identified increases in cortical folding over time in numerous cortical regions (mean curvature: +0.003/week; sulcal depth: +0.04mm/week) while folding did not change in major sulci that are known to develop early (corrected p<0.05). The proposed pipeline successfully mapped cortical structural development, supporting current models of cerebral morphogenesis

  19. [Confusing clinical presentations and differential diagnosis of bipolar disorder].

    PubMed

    Gorwood, P

    2004-01-01

    An early recognition of bipolar disorders may have an important impact on the prognosis of this disorder according to different mechanisms. Bipolar disorder is nevertheless not easy to detect, the diagnosis being correctly proposed after, in average more than a couple of Years and three different doctors assessments. A short delay before introducing the relevant treatment should help avoiding inappropriate treatments (prescribing, for example, neuroleptics for long periods, antidepressive drugs each time depressive symptoms occurs, absence of treatment despite mood disorders), with their associated negative impact such as mood-switching, rapid cycling or presence of chronic side-effects stigmates. Furthermore, non-treated mood disorders in bipolar disorder are longer, more stigmatizing and may be associated with an increased risk of suicidal behaviour and mortality. Lastly, compliance, an important factor regarding the long term prognosis of bipolar disorder, should be improved when there is a short delay between correct diagnosis and treatment and onset of the disorder. We therefore propose to review the literature for the different pitfalls involved in the diagnosis of bipolar disorder. Non-bipolar mood-disorders are frequently quoted as one of the alternative diagnosis. Hyperthymic temperament, side-effects of prescribed treatments and organic comorbid disorders may be involved. Bipolar disorders have a sex-ratio closer to 1 (men are thus more frequently of the bipolar type in mood-disorders), with earlier age at onset, and more frequent family history of suicidal attempts and bipolar disorder. Schizo-affective disorders are also a major concern regarding the diagnosis of bipolar disorder. This is explained by flat affects sometimes close to anhedonia, presence of a schizoïd personality in bipolar disorder, persecutive hostility that can be considered to be related to irritability rather than a schizophrenic symptom. Rapid cycling, mixed episodes and short

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

    PubMed Central

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

    2014-01-01

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

  1. Influence of clinical and pathologic features on the pathologist's diagnosis of mycosis fungoides: a pilot study.

    PubMed

    Rovner, Rebecca; Smith, Hayden L; Katz, Peter J; Liu, Vincent

    2015-07-01

    Although clinicopathologic correlation is critical in the diagnosis of early mycosis fungoides (MF), how clinical information directly affects the pathologist's interpretation is unknown. This pilot study aimed to assess the influence of provided clinical information and specific histopathologic features on the histopathologic diagnosis of MF vs. its inflammatory simulants. A computerized survey recorded diagnostic impressions by 24 dermatopathologists of 30 hematoxylin-eosin stained images, including 15 MF images and 15 dermatitis images. Images were accompanied by concordant clinical descriptions (33%), no clinical information (33%) or discordant clinical descriptions (33%). Percentage of correctly classified MF histopathologic images for the three scenarios of concordant clinical information, no clinical information or discordant clinical information were 32% (kappa 0.19), 56% (kappa 0.12) and 16% (kappa 0.33), respectively. The percentage of correctly classified slides presented with no clinical information was different from the other two groups (p < 0.0001). Pautrier collections were most associated with correct classification. Clinical information may play a significant role in the histopathologic diagnosis of MF, although there may be some value in initial blinded histopathologic interpretation. Specific histopathologic features differ in relative importance in the diagnosis of MF.

  2. Pilot clinical study for quantitative spectral diagnosis of non-melanoma skin cancer

    PubMed Central

    Rajaram, Narasimhan; Reichenberg, Jason S.; Migden, Michael R.; Nguyen, Tri H.

    2010-01-01

    Background Several research groups have demonstrated the non-invasive diagnostic potential of diffuse optical spectroscopy (DOS) and laser-induced fluorescence (LIF) techniques for early cancer detection. By combining both modalities, one can simultaneously measure quantitative parameters related to the morphology, function and biochemical composition of tissue and use them to diagnose malignancy. The objective of this study was to use a quantitative reflectance/fluorescence spectroscopic technique to determine the optical properties of normal skin and non-melanoma skin cancers and the ability to accurately classify them. An additional goal was to determine the ability of the technique to differentiate non-melanoma skin cancers from normal skin. Study Design The study comprised 48 lesions measured from 40 patients scheduled for a biopsy of suspected non-melanoma skin cancers. White light reflectance and laser-induced fluorescence spectra (wavelength range = 350–700 nm) were collected from each suspected lesion and adjacent clinically normal skin using a custom-built, optical fiber-based clinical instrument. After measurement, the skin sites were biopsied and categorized according to histopathology. Using a quantitative model, we extracted various optical parameters from the measured spectra that could be correlated to the physiological state of tissue. Results Scattering from cancerous lesions was significantly lower than normal skin for every lesion group, whereas absorption parameters were significantly higher. Using numerical cut-offs for our optical parameters, our clinical instrument could classify basal cell carcinomas with a sensitivity and specificity of 94 and 89%, respectively. Similarly, the instrument classified actinic keratoses and squamous cell carcinomas with a sensitivity of 100% and specificity of 50%. Conclusion The measured optical properties and fluorophore contributions of normal skin and non-melanoma skin cancers are significantly different

  3. Meibomian gland dysfunction: a clinical scheme for description, diagnosis, classification, and grading.

    PubMed

    Foulks, Gary N; Bron, Anthony J

    2003-07-01

    Although meibomian gland disease (MGD) is one of the most common disorders encountered in ophthalmic practice, there has been no descriptive system consistently accepted to clinically characterize the anatomical and correlative biochemical alterations that occur in this condition. The purpose of this review is to synthesize a clinical description of meibomian gland disease and to provide a scheme for diagnosis, classification, and quantification that will be of value in the clinical setting and in the conduct of clinical trials.

  4. Clinical use of diodes and micro-chambers to obtain accurate small field output factor measurements.

    PubMed

    Kairn, T; Charles, P H; Cranmer-Sargison, G; Crowe, S B; Langton, C M; Thwaites, D I; Trapp, J V

    2015-06-01

    There have been substantial advances in small field dosimetry techniques and technologies, over the last decade, which have dramatically improved the achievable accuracy of small field dose measurements. This educational note aims to help radiation oncology medical physicists to apply some of these advances in clinical practice. The evaluation of a set of small field output factors (total scatter factors) is used to exemplify a detailed measurement and simulation procedure and as a basis for discussing the possible effects of simplifying that procedure. Field output factors were measured with an unshielded diode and a micro-ionisation chamber, at the centre of a set of square fields defined by a micro-multileaf collimator. Nominal field sizes investigated ranged from 6 × 6 to 98 × 98 mm(2). Diode measurements in fields smaller than 30 mm across were corrected using response factors calculated using Monte Carlo simulations of the diode geometry and daisy-chained to match micro-chamber measurements at intermediate field sizes. Diode measurements in fields smaller than 15 mm across were repeated twelve times over three separate measurement sessions, to evaluate the reproducibility of the radiation field size and its correspondence with the nominal field size. The five readings that contributed to each measurement on each day varied by up to 0.26  %, for the "very small" fields smaller than 15 mm, and 0.18 % for the fields larger than 15 mm. The diode response factors calculated for the unshielded diode agreed with previously published results, within uncertainties. The measured dimensions of the very small fields differed by up to 0.3 mm, across the different measurement sessions, contributing an uncertainty of up to 1.2 % to the very small field output factors. The overall uncertainties in the field output factors were 1.8 % for the very small fields and 1.1 % for the fields larger than 15 mm across. Recommended steps for acquiring small field output

  5. Acute pancreatitis: etiology, clinical presentation, diagnosis, and therapy.

    PubMed

    Cappell, Mitchell S

    2008-07-01

    Acute pancreatitis is a relatively common disease that affects about 300,000 patients per annum in America with a mortality of about 7%. About 75% of pancreatitis is caused by gallstones or alcohol. Other important causes include hypertriglyceridemia, medication toxicity, trauma from endoscopic retrograde cholangiopancreatography, hypercalcemia, abdominal trauma, various infections, autoimmune, ischemia, and hereditary causes. In about 15% of cases the cause remains unknown after thorough investigation. This article discusses the causes, diagnosis, imaging findings, therapy, and complications of acute pancreatitis.

  6. [BENIGN TUMORS OF MEDIASTINUM: CLINIC, DIAGNOSIS, SURGICAL TREATMENT].

    PubMed

    Kalabukha, I A; Mayetniy, E M

    2015-12-01

    Results of surgical treatment of 18 patients in a thoracic surgery clinic for benign tumors of mediastinum are presented. The symptoms of benign tumors, efficacy of application of welding technologies in operative intervention were analyzed. PMID:27025028

  7. Bacillary angiomatosis. Clinical and histologic features, diagnosis, and treatment.

    PubMed

    Cotell, S L; Noskin, G A

    1994-03-14

    Bacillary angiomatosis is a relatively new infection affecting primarily patients with human immunodeficiency virus or others with impaired host defenses. It presents most commonly with multiple red skin lesions, but visceral involvement may also occur, including involvement of the liver and spleen. Because of the dermatologic manifestations, bacillary angiomatosis may be mistaken for Kaposi's sarcoma. The diagnosis is made by identification of the characteristic histologic findings or genetic amplification by means of polymerase chain reaction. The causative agent was recently identified as Rochalimaea henselae, although Rochalimaea quintana may also play a role. Therapy with erythromycin or doxycycline is usually effective.

  8. Diagnosis and clinical assessment of a stiff shoulder

    PubMed Central

    2015-01-01

    The assessment of a stiff shoulder is explored, the necessary investigations to reach a diagnosis are discussed, and the likely causes that can contribute to a frozen shoulder are described. Two flow diagrams are included to help in reaching a conclusion when seeing a patient with a stiff shoulder. The key elements to reaching that conclusion are: carefully listening to the patients story, noting whether there has been a history of trauma, as well as a careful and thorough examination and a plain X-ray with two views. PMID:27582968

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

    PubMed

    Pariser, David M

    2014-10-01

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

  10. Multiplex PCR Allows Rapid and Accurate Diagnosis of Bloodstream Infections in Newborns and Children with Suspected Sepsis▿†§

    PubMed Central

    Lucignano, Barbara; Ranno, Stefania; Liesenfeld, Oliver; Pizzorno, Beatrice; Putignani, Lorenza; Bernaschi, Paola; Menichella, Donato

    2011-01-01

    Sepsis is a major health problem in newborns and children. Early detection of pathogens allows initiation of appropriate antimicrobial therapy that strongly correlates with positive outcomes. Multiplex PCR has the potential to rapidly identify bloodstream infections, compensating for the loss of blood culture sensitivity. In an Italian pediatric hospital, multiplex PCR (the LightCycler SeptiFast test) was compared to routine blood culture with 1,673 samples obtained from 803 children with suspected sepsis; clinical and laboratory information was used to determine the patient infection status. Excluding results attributable to contaminants, SeptiFast showed a sensitivity of 85.0% (95% confidence interval [CI] = 78.7 to 89.7%) and a specificity of 93.5% (95% CI = 92.1 to 94.7%) compared to blood culture. The rate of positive results was significantly higher with SeptiFast (14.6%) than blood culture (10.3%) (P < 0.0001), and the overall positivity rate was 16.1% when the results of both tests were combined. Staphylococcus aureus (11.6%), coagulase-negative staphylococci (CoNS) (29.6%), Pseudomonas aeruginosa (16.5%), and Klebsiella spp. (10.1%) were the most frequently detected. SeptiFast identified 97 additional isolates that blood culture failed to detect (24.7% P. aeruginosa, 23.7% CoNS, 14.4% Klebsiella spp., 14.4% Candida spp.). Among specimens taken from patients receiving antibiotic therapy, we also observed a significantly higher rate of positivity of SeptiFast than blood culture (14.1% versus 6.5%, respectively; P < 0.0001). On the contrary, contaminants were significantly more frequent among blood cultures than SeptiFast (n = 97 [5.8%] versus n = 26 [1.6%]), respectively; P < 0.0001). SeptiFast served as a highly valuable adjunct to conventional blood culture in children, adding diagnostic value and shortening the time to result (TTR) to 6 h. PMID:21471340

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

    PubMed Central

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

    2016-01-01

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

  12. Development of a Computer Program for Teaching Periodontal Diagnosis Based on Clinical Epidemiological Principles.

    ERIC Educational Resources Information Center

    Fung, Kelvin; And Others

    1995-01-01

    Development of an inexpensive but powerful computer program to teach clinical periodontal diagnosis using epidemiological principles is described. Using probabilistic thinking, the student is guided from application of raw research data to derivation of likelihood ratios and how they affect clinical decision making. Student response was found to…

  13. Clinical criteria for the diagnosis of salivary gland hypofunction.

    PubMed

    Navazesh, M; Christensen, C; Brightman, V

    1992-07-01

    There is considerable difficulty in the making of initial clinical decisions as to whether a given patient has salivary gland hypofunction, and hence requires additional salivary gland evaluation. This study identified a set of four clinical measures that, together, successfully predicted the presence or absence of salivary gland hypofunction. The four measures were: dryness of lips, dryness of buccal mucosa, absence of saliva produced by gland palpation, and total DMFT; they were derived from discriminant analysis of data collected from 71 individuals with normal and low salivary flow rates. These measures are proposed as criteria for clinical decision-making, as well as for classification of patients in studies of salivary gland dysfunction syndromes. This study also identified unstimulated whole salivary flow rates of 0.12-0.16 mL/min as the critical range separating individuals with salivary gland hypofunction from those with normal gland function.

  14. Patient exposure in the basic science classroom enhances differential diagnosis formation and clinical decision-making.

    PubMed

    Peacock, Justin G; Grande, Joseph P

    2015-01-01

    Purpose. The authors proposed that introducing real patients into a pathology classroom early in medical education would help integrate fundamental principles and disease pathology with clinical presentation and medical history. Methods. Three patients with different pathologies described their history and presentation without revealing their diagnosis. Students were required to submit a differential diagnosis in writing, and then were able to ask questions to arrive at the correct diagnosis. Students were surveyed on the efficacy of patient-based learning. Results. Average student scores on the differential diagnosis assignments significantly improved 32% during the course. From the survey, 72% of students felt that patient encounters should be included in the pathology course next year. Seventy-four percent felt that the differential diagnosis assignments helped them develop clinical decision-making skills. Seventy-three percent felt that the experience helped them know what questions to ask patients. Eighty-six percent felt that they obtained a better understanding of patients' social and emotional challenges. Discussion. Having students work through the process of differential diagnosis formulation when encountering a real patient and their clinical presentation improved clinical decision-making skills and integrated fundamental concepts with disease pathology during a basic science pathology course.

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

    PubMed Central

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

    2015-01-01

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

  16. [Juvenile angiofibroma of the nasopharynx--clinical diagnosis and therapy].

    PubMed

    Sladoje, Ramila; Stojicić, Gojko; Janosević, Liljana; Janosević, Slobodanka; Nesić, Vladimir; Babac, Snezana

    2002-01-01

    Juvenile nasopharyngeal angiofibroma is an infrequent epipharyngeal tumour necessitating particular diagnostic and therapeutic procedures in comparison to other benign epipharyngeal tumours due to its expansive growth tendency. Our retrospective study is aimed at presenting clinical casuistry of the tumour in order to evaluate modern diagnostic and therapeutic possibilities. The study included 13 male patients, aged 13-24 years, who were hospitalized, diagnostically assessed and surgically treated at the Institute of Otorhinolaryngology and Maxillofacial Surgery, Clinical Centre of Serbia over the period 1990-June 2001. The following parameters were analyzed: sex, age groups, preoperative symptoms of the disease, diagnostic methods, embolization, local tumour spreading, number and time of tumour relapses and surgical approach.

  17. A Novel IgM-capture enzyme-linked immunosorbent assay using recombinant Vag8 fusion protein for the accurate and early diagnosis of Bordetella pertussis infection.

    PubMed

    Otsuka, Nao; Gotoh, Kensei; Nishimura, Naoko; Ozaki, Takao; Nakamura, Yukitsugu; Haga, Kiyohito; Yamazaki, Makoto; Gondaira, Fumio; Okada, Kenji; Miyaji, Yusuke; Toyoizumi-Ajisaka, Hiromi; Shibayama, Keigo; Arakawa, Yoshichika; Kamachi, Kazunari

    2016-05-01

    An ELISA that measures anti-PT IgG antibody has been used widely for the serodiagnosis of pertussis; however, the IgG-based ELISA is inadequate for patients during the acute phase of the disease because of the slow response of anti-PT IgG antibodies. To solve this problem, we developed a novel IgM-capture ELISA that measures serum anti-Bordetella pertussis Vag8 IgM levels for the accurate and early diagnosis of pertussis. First, we confirmed that Vag8 was highly expressed in all B. pertussis isolates tested (n = 30), but little or none in other Bordetella species, and that DTaP vaccines did not induce anti-Vag8 IgG antibodies in mice (i.e. the antibody level could be unaffected by the vaccination). To determine the immune response to Vag8 in B. pertussis infection, anti-Vag8 IgM levels were compared between 38 patients (acute phase of pertussis) and 29 healthy individuals using the anti-Vag8 IgM-capture ELISA. The results revealed that the anti-Vag8 IgM levels were significantly higher in the patients compared with the healthy individuals (P < 0.001). ROC analysis also showed that the anti-Vag8 IgM-capture ELISA has higher diagnostic accuracy (AUC, 0.92) than a commercial anti-PT IgG ELISA kit. Moreover, it was shown that anti-Vag8 IgM antibodies were induced earlier than anti-PT IgG antibodies on sequential patients' sera. These data indicate that our novel anti-Vag8 IgM-capture ELISA is a potentially useful tool for making the accurate and early diagnosis of B. pertussis infection.

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

    PubMed

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

    2013-01-01

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

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

    PubMed

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

    2013-01-01

    Non-communicable diseases are a public health problem in México. Coronary heart disease and diabetes mellitus are the first and second cause of death in the country, followed by thrombotic cerebrovascular events. Cardiovascular diseases are the leading cause of death; one primary risk factor is hypercholesterolemia. The detection and treatment of lipid abnormalities is the key to the prevention and management of chronic non-communicable diseases. Two nationally representative surveys have shown that lipid abnormalities are the most common risk factors in Mexican adults. The purpose of this guide is to provide a basis for identifying dyslipidemia in a timely manner, and to systematize the criteria for diagnosis and treatment in the first and second level of care. PMID:24290026

  20. [Bovine leukocyte adhesion deficiency: clinical picture and differential diagnosis].

    PubMed

    Lienau, A; Stöber, M; Kehrli, M E; Tammen, I; Schwenger, B; Kuczka, A; Pohlenz, J

    1994-10-01

    The pathological clinical and laboratory findings obtained in 50 calves and young cattle affected with Bovine Leukocyte Adhesion Deficiency are compared with those found in 114 calves and young cattle showing marked neutrophil leukocytosis of other origin (age: < 2 years; leukocyte count: > 30,000 per microl; percentage of lymphocytes: < 55%). PMID:7851303

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

    ERIC Educational Resources Information Center

    Corrigan, Patrick W.

    2007-01-01

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

  2. [The clinical value of NMR tomography for retroperitoneal diagnosis].

    PubMed

    Beer, M; Schmidt, H; Liedl, B; Mayr, W

    1989-08-01

    NMR-tomography is a noninvasive diagnostic alternative to conventional imaging modalities. For clinical purpose there is no significant improvement in staging of kidney tumors and lymphnode metastases. The diagnostic value for complicated cysts and adrenal tumors is superior to all alternative imaging modalities as CT and sonography. Tumors of vena cava could be staged with an accuracy rate of 100%.

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

    PubMed Central

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

    2015-01-01

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

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

    PubMed

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

    2015-12-01

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

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

    PubMed

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

    2015-12-01

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

  6. Patterns, Movement and Clinical Diagnosis of Abdominal Adhesions

    NASA Astrophysics Data System (ADS)

    Wright, Benjamin; Fenner, John; Gillott, Richard; Spencer, Paul; Lawford, Patricia; Bardhan, Karna Dev

    Patterns in normal abdominal movement captured with medical imaging can be recognised by a trained radiologist but the process is time consuming. Abdominal adhesions present a diagnostic problem in which the radiologist is asked to detect abnormal movement that may be indicative of pathology. This paper postulates that the use of image analysis can augment the diagnostic abilities of the radiologist in respect of adhesions. Proof of concept experiments were conducted in-silico to explore the effectiveness of the technique. The results indicate that trained participants are accurate in their assessment of abnormalities when supplied with additional information from image analysis techniques. However without the additional information, participants made incorrect diagnoses on many occasions. ROC methods were used to quantify the outcomes of the in-silico experiment.

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

    SciTech Connect

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

    1987-05-01

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

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

    PubMed Central

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

    2015-01-01

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

  9. Accurate detection of Neisseria gonorrhoeae ciprofloxacin susceptibility directly from genital and extragenital clinical samples: towards genotype-guided antimicrobial therapy

    PubMed Central

    Pond, Marcus J.; Hall, Catherine L.; Miari, Victoria F.; Cole, Michelle; Laing, Ken G.; Jagatia, Heena; Harding-Esch, Emma; Monahan, Irene M.; Planche, Timothy; Hinds, Jason; Ison, Catherine A.; Chisholm, Stephanie; Butcher, Philip D.; Sadiq, Syed Tariq

    2016-01-01

    Introduction Increasing use of nucleic acid amplification tests (NAATs) as the primary means of diagnosing gonococcal infection has resulted in diminished availability of Neisseria gonorrhoeae antimicrobial susceptibility data. We conducted a prospective diagnostic assessment of a real-time PCR assay (NGSNP) enabling direct detection of gonococcal ciprofloxacin susceptibility from a range of clinical sample types. Methods NGSNP, designed to discriminate an SNP associated with ciprofloxacin resistance within the N. gonorrhoeae genome, was validated using a characterized panel of geographically diverse isolates (n = 90) and evaluated to predict ciprofloxacin susceptibility directly on N. gonorrhoeae-positive NAAT lysates derived from genital (n = 174) and non-genital (n = 116) samples (n = 290), from 222 culture-confirmed clinical episodes of gonococcal infection. Results NGSNP correctly genotyped all phenotypically susceptible (n = 49) and resistant (n = 41) panel isolates. Ciprofloxacin-resistant N. gonorrhoeae was responsible for infection in 29.7% (n = 66) of clinical episodes evaluated. Compared with phenotypic susceptibility testing, NGSNP demonstrated sensitivity and specificity of 95.8% (95% CI 91.5%–98.3%) and 100% (95% CI 94.7%–100%), respectively, for detecting ciprofloxacin-susceptible N. gonorrhoeae, with a positive predictive value of 100% (95% CI 97.7%–100%). Applied to urogenital (n = 164), rectal (n = 40) and pharyngeal samples alone (n = 30), positive predictive values were 100% (95% CI 96.8%–100%), 100% (95% CI 87.2%–100%) and 100% (95% CI 82.4%–100%), respectively. Conclusions Genotypic prediction of N. gonorrhoeae ciprofloxacin susceptibility directly from clinical samples was highly accurate and, in the absence of culture, will facilitate use of tailored therapy for gonococcal infection, sparing use of current empirical treatment regimens and enhancing acquisition of susceptibility data for

  10. Molecular beacons in biomedical detection and clinical diagnosis.

    PubMed

    Kim, Youngmi; Sohn, Dosung; Tan, Weihong

    2008-01-01

    Among the diverse nucleic acid probes, molecular beacons (MBs) have shown their excellent potential in a variety of basic researches and practical applications. Their excellent selectivity, sensitivity, and detection without separation have led them to be particularly useful in real-time intracellular monitoring of gene expression, development of biosensors, and clinical diagnostics. This paper will focus on the properties of various MBs and discuss their potential applications.

  11. Clinical signs, diagnosis and treatment of duodenal ileus in cattle.

    PubMed

    Braun, U; Steiner, A; Götz, M

    1993-01-01

    The clinical signs, changes in blood and rumen fluid, findings at laparotomy, therapy and course of disease of 23 cows with obstruction or compression of the duodenum are described. The duodenum was obstructed by a phytobezoar in 14 cows and by a blood clot in one cow. In eight cows, the duodenum was compressed by and adhered to a liver abscess. The most important clinical findings included moderate to severe disturbance in the general behaviour and attitude, markedly reduced gastrointestinal activity, no or greatly reduced defaecation and abomasal reflux with metabolic alkalosis. Ten cows were slaughtered after clinical examination or exploratory laparotomy. In 13 cows, the phytobezoar was compressed manually to facilitate normal elimination, and if this was not possible, the phytobezoar was removed by enterotomy. Postoperative therapy consisted of intravenous administration of a solution containing sodium chloride and glucose, potassium chloride and intramuscular administration of metoclopramide, procaine penicillin and flunixin meglumine for three to five days. Two of the treated cows were slaughtered a few days postoperatively. There was a rapid improvement in the remaining 11 cows, and general condition, appetite and defaecation returned to normal within a short time.

  12. [Antipsychotics and hyperpolactinaemia: pathophysiology, clinical relevance, diagnosis and therapy].

    PubMed

    Riecher-Rössler, Anita; Schmid, Christoph; Bleuer, Stefan; Birkhäuser, Martin

    2009-01-01

    Hyperprolactinaemia is a frequent but often neglected side effect of typical, but also of many atypical antipsychotics such as amisulpiride, risperidone or ziprasidone. Besides galactorrhoea, potential consequences are suppression of the hypothalamic-pituitary-gonadal axis with hypogonadism, sexual dysfunction, infertility and in women also irregularities of the menstrual cycle and amenorrhoea. Potential long term consequences are mainly osteopenia and osteoporosis with an enhanced risk of fractures. Hyperprolactinaemia, if not clearly caused by a prolactin inducing antipsychotic, should always be thoroughly investigated. Ideally, prolactin should be measured before starting a patient on a new antipsychotic. Furthermore, before neuroleptic treatment is begun, and also in regular intervals after that, patients should be asked about potential clinical signs of hyperprolactinaemia. Hyperprolactinaemia which is clearly due to antipsychotics but without clinical symptoms only requires regular controls of bone mineral density. However, if clinical symptoms occur, switching to a prolactin sparing antipsychotic may be necessary. In these cases fertility is often regained and the women concerned have to be informed about the enhanced risk of pregnancy and counselled regarding contraception. If switching is not possible, estradiol has to be substituted in women. Also in men with hypogonadism hormonesubstitution (with testosterone) is usually indicated. Generally hyperprolactinaemia in psychiatric patients should be taken more seriously in the future.

  13. [Ultrasonographic diagnosis of the retroperitoneal space. A case history series and some selected clinical cases].

    PubMed

    Monaci, R; Rondine, P P; Morandini, M; Meoni, S; Cecchin, A

    1989-04-01

    A personal series and some clinical cases of pathology of the retroperitoneal space observed by ultrasonography during routine and emergency investigations are reported. Although the limitations of this diagnosis compared to the more recent image techniques (CT and NMR) are recognised, it is still considered an indispensable first level diagnosis in this extensive pathology (in terms of site, type and extent) of retroperitoneally located organs, tissues and systems.

  14. Development and clinical evaluation of a highly accurate dengue NS1 rapid test: from the preparation of a soluble NS1 antigen to the construction of an RDT.

    PubMed

    Lee, Jihoo; Kim, Hak-Yong; Chong, Chom-Kyu; Song, Hyun-Ok

    2015-06-01

    Early diagnosis of dengue virus (DENV) is important. There are numerous products on the market claiming to detect DENV NS1, but these are not always reliable. In this study, a highly sensitive and accurate rapid diagnostic test (RDT) was developed using anti-dengue NS1 monoclonal antibodies. A recombinant NS1 protein was produced with high antigenicity and purity. Monoclonal antibodies were raised against this purified NS1 antigen. The RDT was constructed using a capturing (4A6A10, Kd=7.512±0.419×10(-9)) and a conjugating antibody (3E12E6, Kd=7.032±0.322×10(-9)). The diagnostic performance was evaluated with NS1-positive clinical samples collected from various dengue endemic countries and compared to SD BioLine Dengue NS1 Ag kit. The constructed RDT exhibited higher sensitivity (92.9%) with more obvious diagnostic performance than the commercial kit (83.3%). The specificity of constructed RDT was 100%. The constructed RDT could offer a reliable point-of-care testing tool for the early detection of dengue infections in remote areas and contribute to the control of dengue-related diseases. PMID:25824725

  15. Development and clinical evaluation of a highly accurate dengue NS1 rapid test: from the preparation of a soluble NS1 antigen to the construction of an RDT.

    PubMed

    Lee, Jihoo; Kim, Hak-Yong; Chong, Chom-Kyu; Song, Hyun-Ok

    2015-06-01

    Early diagnosis of dengue virus (DENV) is important. There are numerous products on the market claiming to detect DENV NS1, but these are not always reliable. In this study, a highly sensitive and accurate rapid diagnostic test (RDT) was developed using anti-dengue NS1 monoclonal antibodies. A recombinant NS1 protein was produced with high antigenicity and purity. Monoclonal antibodies were raised against this purified NS1 antigen. The RDT was constructed using a capturing (4A6A10, Kd=7.512±0.419×10(-9)) and a conjugating antibody (3E12E6, Kd=7.032±0.322×10(-9)). The diagnostic performance was evaluated with NS1-positive clinical samples collected from various dengue endemic countries and compared to SD BioLine Dengue NS1 Ag kit. The constructed RDT exhibited higher sensitivity (92.9%) with more obvious diagnostic performance than the commercial kit (83.3%). The specificity of constructed RDT was 100%. The constructed RDT could offer a reliable point-of-care testing tool for the early detection of dengue infections in remote areas and contribute to the control of dengue-related diseases.

  16. Overactive bladder, differential diagnosis, and clinical utility of fesoterodine

    PubMed Central

    Wyndaele, Jean-Jacques

    2012-01-01

    Overactive bladder is a symptom syndrome with urgency, frequency and, in many cases, nocturia. Urge incontinence is not present in all. There is no direct correlation with detrusor overactivity, an objective finding during urodynamic testing where involuntary contractions can be noticed. In the pathophysiology, much more attention has been given to the afferent/sensory arm of the micturition reflex in the last decade. Anatomical and infectious causes have to be diagnosed or ruled out. Diagnosis of overactive bladder is made mostly by history-taking, but other tests can be necessary in specific patients. Treatment consists of behavioral measures, a good explanation of the condition, training, and pelvic floor physiotherapy. Drugs are often used. Until recently, antimuscarinic drugs have been the mainstay of pharmacological therapy. Fesoterodine is a newer antimuscarinic agent which is more pharmacodynamically stable then tolterodine. Fesoterodine has been extensively researched using different dosages and compared with placebo and tolterodine, in different age groups, and under different conditions. Fesoterodine is superior to placebo and to tolterodine in the short term and long term. Its safety is very acceptable. PMID:23204858

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

    PubMed Central

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

    2016-01-01

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

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

    PubMed Central

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

    2016-01-01

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

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

    PubMed

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

    2015-11-01

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

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

    PubMed

    Stratakis, Constantine A

    2016-06-01

    Endogenous Cushing syndrome (CS) in pediatrics is rare; it may be caused by tumors that produce corticotropin in the pituitary gland or elsewhere, tumors that produce corticotropin-releasing hormone anywhere, and adrenocortical masses that produce cortisol. Adrenocortical cancer is a rare cause of CS in children but should be excluded first. CS in children is often caused by germline or somatic mutations with implications for patient prognosis and for their families. CS should be recognized early in children; otherwise, it can lead to significant morbidity and mortality. Patients with suspected CS should be referred to specialized clinical centers for workup. PMID:27241967

  1. Achalasia: a review of clinical diagnosis, epidemiology, treatment and outcomes.

    PubMed

    O'Neill, Orla M; Johnston, Brian T; Coleman, Helen G

    2013-09-21

    Achalasia is a neurodegenerative motility disorder of the oesophagus resulting in deranged oesophageal peristalsis and loss of lower oesophageal sphincter function. Historically, annual achalasia incidence rates were believed to be low, approximately 0.5-1.2 per 100000. More recent reports suggest that annual incidence rates have risen to 1.6 per 100000 in some populations. The aetiology of achalasia is still unclear but is likely to be multi-factorial. Suggested causes include environmental or viral exposures resulting in inflammation of the oesophageal myenteric plexus, which elicits an autoimmune response. Risk of achalasia may be elevated in a sub-group of genetically susceptible people. Improvement in the diagnosis of achalasia, through the introduction of high resolution manometry with pressure topography plotting, has resulted in the development of a novel classification system for achalasia. This classification system can evaluate patient prognosis and predict responsiveness to treatment. There is currently much debate over whether pneumatic dilatation is a superior method compared to the Heller's myotomy procedure in the treatment of achalasia. A recent comparative study found equal efficacy, suggesting that patient preference and local expertise should guide the choice. Although achalasia is a relatively rare condition, it carries a risk of complications, including aspiration pneumonia and oesophageal cancer. The risk of both squamous cell carcinoma and adenocarcinoma of the oesophagus is believed to be significantly increased in patients with achalasia, however the absolute excess risk is small. Therefore, it is currently unknown whether a surveillance programme in achalasia patients would be effective or cost-effective.

  2. [Ketoacidotic diabetic metabolic dysregulation: pathophysiology, clinical aspects, diagnosis and therapy].

    PubMed

    Kaufmann, P; Smolle, K H; Fleck, S; Lueger, A

    1994-01-01

    When glucose utilisation is impaired due to decreased insulin effect, ketones are produced by the liver from free fatty acids to supply an alternate source of energy. This adaptation may be associated with severe metabolic acidosis and tends to occur in patients with type I (insulin-dependent) diabetes mellitus. In addition, hypovolemia is an almost invariable finding with marked hypoglycemia and is primarily induced by the associated glucosuria. Ketoacidosis stimulates both the central and peripheral chemoreceptors controlling respiration, resulting in alveolar hyperventilation (Kussmaul's respiration). With the ensuing fall in pCO2 the patient tries to raise the extracellular pH. A fruity odor of acetone on the patient's breath sometimes suggests that ketoacidosis is present. The classical triad of symptoms associated with hyperglycemia are polyuria, polydipsia, and weight loss. Circulatory insufficiency with hypotension is not uncommon due to the marked fluid loss and acidemia. In more severely affected patients, neurologic abnormalities may be seen, including lethargy, seizures or coma. Some patients also have marked vomiting and abdominal pain. The history and physical examination may provide important clues to the presence of uncontrolled diabetes mellitus. Once suspected, the diagnosis can be easily confirmed by measuring the plasma glucose concentration. Glucosuria and ketonuria can be semiquantitatively detected with reagent sticks. Blood gas analysis and anion gap give objective information as to the severity of the metabolic acidosis. Therapy must be directed toward each of the metabolic disturbances: hyperosmolality, ketoacidosis, hypovolemia and potassium, and phosphate depletion. The mainstays of therapy are the administration of low-dose insulin and volume repletion.(ABSTRACT TRUNCATED AT 250 WORDS) PMID:8171867

  3. Paper-based diagnostic devices for clinical paraquat poisoning diagnosis.

    PubMed

    Kuan, Chen-Meng; Lin, Szu-Ting; Yen, Tzung-Hai; Wang, Yu-Lin; Cheng, Chao-Min

    2016-05-01

    This article unveils the development of a paper-based analytical device designed to rapidly detect and clinically diagnose paraquat (PQ) poisoning. Using wax printing technology, we fabricated a PQ detection device by pattering hydrophobic boundaries on paper. This PQ detection device employs a colorimetric sodium dithionite assay or an ascorbic acid assay to indicate the PQ level in a buffer system or in a human serum system in 10 min. In this test, colorimetric changes, blue in color, were observable with the naked eye. By curve fitting models of sodium dithionite and ascorbic acid assays in normal human serum, we evaluated serum PQ levels for five PQ-poisoned patients before hemoperfusion (HP) treatment and one PQ-poisoned patient after HP treatment. As evidenced by similar detection outcomes, the analytical performance of our device can compete with that of the highest clinical standard, i.e., spectrophotometry, with less complicated sample preparation and with more rapid results. Accordingly, we believe that our rapid PQ detection can benefit physicians determining timely treatment strategies for PQ-poisoned patients once they are taken to hospitals, and that this approach will increase survival rates. PMID:27462379

  4. [Clinical diagnosis and standardized evaluation of borderline personality: preliminary report].

    PubMed

    Chaine, F; Guelfi, J D; Monier, C; Brun, A; Seunevel, F

    1995-01-01

    A sample of 36 patients considered by French clinicians as suffering from a borderline personality disorder was evaluated using the International Personality Disorder Examination, the Diagnostic Interview for Borderline-Revised, and the Minnesota Multiphasic Personality Inventory. First, global descriptive analysis of the sample elicited the socio-demographic and standard clinical characteristics of the borderline individuals. After diagnostic evaluation, the sample appeared to be quite homogeneous with 25 of the 36 patients evaluated (69.5%) being defined as borderline by two of the three diagnostic systems: ICD 10, DSM III-R and Gunderson (15/36 = 41.5% of patients were defined as borderline by all three systems). It is the types of BL personality co-diagnoses which differentiated the BL subjects in the sample from those classically described in the international literature, since the most frequent personalities were the Dependent and Avoiding ones, not the Antisocial, Histrionic, Narcissistic or Schizotypic personalities of the DSM III-R. ICD 10 elicited the same significant prevalence of Anxious and Dependent personalities. Lastly, the patients diagnosed as borderline both by clinicians and by all diagnostic systems (forming the sample "core") were compared with the rest of the sample with regard to socio-demographic, clinical and diagnostic characteristics. A few hypotheses are proposed on the type of variables that may permit to discriminate between these two types of patients.

  5. Common recurrent microduplication syndromes: diagnosis and management in clinical practice.

    PubMed

    Berg, Jonathan S; Potocki, Lorraine; Bacino, Carlos A

    2010-05-01

    Details on the phenotypic consequences of genomic microdeletions and microduplications are rapidly emerging in the wake of increased utilization of high-resolution methods for the detection of genomic copy number variants (CNVs). Due to their recent discovery, the complete phenotypic characterization of these syndromes is still in progress. For practicing clinicians, this unprecedented molecular diagnostic capability has in many cases outpaced our ability to convey conclusive information regarding these conditions to patients and family members. In particular, genomic microduplication syndromes are frequently associated with variable phenotypes and incomplete penetrance, leading to difficulty in counseling regarding the potential future consequences of a given microduplication. In this review, we have attempted to provide an initial set of recommendations for the management of patients with recurrent microduplication syndromes. We summarize the clinical information for microduplications of 14 different genomic regions and provide a framework for clinical evaluation and anticipatory guidance in these conditions. It is our expectation that these preliminary guidelines will be revised further for each microduplication syndrome as more information becomes available.

  6. Osteogenesis imperfecta: Clinical diagnosis, nomenclature and severity assessment

    PubMed Central

    Van Dijk, FS; Sillence, DO

    2014-01-01

    Recently, the genetic heterogeneity in osteogenesis imperfecta (OI), proposed in 1979 by Sillence et al., has been confirmed with molecular genetic studies. At present, 17 genetic causes of OI and closely related disorders have been identified and it is expected that more will follow. Unlike most reviews that have been published in the last decade on the genetic causes and biochemical processes leading to OI, this review focuses on the clinical classification of OI and elaborates on the newly proposed OI classification from 2010, which returned to a descriptive and numerical grouping of five OI syndromic groups. The new OI nomenclature and the pre-and postnatal severity assessment introduced in this review, emphasize the importance of phenotyping in order to diagnose, classify, and assess severity of OI. This will provide patients and their families with insight into the probable course of the disorder and it will allow physicians to evaluate the effect of therapy. A careful clinical description in combination with knowledge of the specific molecular genetic cause is the starting point for development and assessment of therapy in patients with heritable disorders including OI. © 2014 The Authors. American Journal of Medical Genetics Published by Wiley Periodicals, Inc. This is an open access article under the terms of the Creative Commons Attribution–NonCommercial–NoDerivs License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non-commercial and no modifications or adaptations are made. PMID:24715559

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

    PubMed Central

    1996-01-01

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

  8. [Component-resolved diagnosis is a new era in clinical allergology].

    PubMed

    Mokronosova, M A; Korovkina, E S

    2013-01-01

    The paper describes the fundamentals and benefits of a new allergy diagnostic technique based on recent advances in molecular biology and biotechnology. Component-resolved diagnosis allows IgE antibodies against purified molecules (individual allergen components) to be revealed. Microanalysis is made using microarrays with applied molecules (allergen components) obtained in a recombinant fashion or extracted from natural raw materials. The authors present a current classification of animal and plant allergens and show the value of component-resolved diagnosis in clinical practice, by using specific clinical examples.

  9. Personalized Clinical Diagnosis in Data Bases for Treatment Support in Phthisiology.

    PubMed

    Lugovkina, T K; Skornyakov, S N; Golubev, D N; Egorov, E A; Medvinsky, I D

    2016-01-01

    The decision-making is a key event in the clinical practice. The program products with clinical decision support models in electronic data-base as well as with fixed decision moments of the real clinical practice and treatment results are very actual instruments for improving phthisiological practice and may be useful in the severe cases caused by the resistant strains of Mycobacterium tuberculosis. The methodology for gathering and structuring of useful information (critical clinical signals for decisions) is described. Additional coding of clinical diagnosis characteristics was implemented for numeric reflection of the personal situations. The created methodology for systematization and coding Clinical Events allowed to improve the clinical decision models for better clinical results.

  10. JCL roundtable: Diagnosis and clinical management of lipodystrophy.

    PubMed

    Brown, William Virgil; Garg, Abhimanyu; Gorden, Phillip; Shamburek, Robert

    2016-01-01

    Lipodystrophy comes in several forms, some involving the complete failure to develop adipose tissue and others with a partial absence in various bodily distributions. All appear to have a major genetic basis, and all involve a high frequency of lipoprotein disorders. High triglycerides and low high-density lipoprotein cholesterol are the usual findings that raise interesting questions as to how such abnormalities characteristic of obesity can be caused by genetic variants that produce a paucity of adiposity. We are learning to link some specific genetic variants that seem causal and to manage these disorders in more effective ways. We are joined by 3 experts who have been leaders in the study of the clinical presentation, genetics, abnormal physiology, and the management of lipodystrophy in recent years. They are Drs Abhimanyu Garg from the University of Texas Southwestern, Phillip Gorden of the National Institute of Diabetes, Digestive and Kidney Diseases, and Robert Shamburek of the National Heart, Lung and Blood Institute. PMID:27578101

  11. [Auditory synaptopathy/neuropathy: clinical findings and diagnosis].

    PubMed

    Walger, M; Foerst, A; Beutner, D; Streicher, B; Stürmer, K; Lang-Roth, R

    2011-05-01

    Auditory synaptopathy/neuropathy (AS/AN) is a special subtype of sensorineural hearing disorders with heterogeneous phenotypes and underestimated incidence. AS/AN generally develops in infancy, occasionally in adulthood. Symptoms include fluctuating, mostly bilateral hearing loss and abnormally reduced speech comprehension, especially in noisy environments. Within audiological assessments, patients with AS/AN present otoacoustic emissions (TEOAE; DPOAE) and cochlear microphonics (CM), absence of stapedius reflexes (SR) as well as absent or pathologically altered auditory evoked brainstem potentials (ABR). Children with AS/AN cannot be identified within OAE-based newborn hearing screening programs. Clinical findings, transtympanic electrocochleography (ECoG) and further diagnostic tools permit further identification of individual characteristics. In individual cases conventional amplification and the use of FM systems may improve hearing and communication skills. If these interventions, accompanied by intensive hearing, speech and language therapy are unsuccessful, cochlear implants (CI) or alternative forms of communication may be useful options for rehabilitation. PMID:21505928

  12. [Clinical features and diagnosis of bronchopulmonary infections in the elderly].

    PubMed

    Hoheisel, G; Winkler, J; Gessner, C; Hammerschmidt, S; Seyfarth, H-J; Rodloff, A C; Liebert, U-G; Wirtz, H; Gillissen, A

    2008-05-01

    Diseases of the lung are one of the main causes of morbidity and mortality in the elderly. The risk of respiratory infections is increased due to structural changes, malnutrition, co-morbidity, and a variety of other factors. Bacterial and viral pathogens cause acute bronchitis and exacerbations of chronic bronchitis (AECB). Community acquired pneumonias (CAP) show a different spectrum of pathogens and clinical course in comparison to nosocomial pneumonias (hospital acquired pneumonia, HAP). Institutionalised patients are at risk of a health care associated pneumonia (HCAP), with often a different spectrum of pathogens in comparison to CAP and HAP. Elderly patients with cerebrovascular disease and impairment of swallowing or cough reflexes often suffer from aspiration pneumonias. The mortality is highest in the elderly, comorbid, and immunocompromised patient with nosocomial pneumonia. Important preventive measures include influenza and pneumococcal vaccination, avoidance of immobility, oral hygiene, and sufficient nutrition.

  13. [Coronary microvascular dysfunction : Clinical aspects, diagnosis and therapy].

    PubMed

    Ong, P; Sechtem, U

    2016-06-01

    Just as in epicardial coronary stenosis, coronary microvascular dysfunction (CMD) also leads to an imbalance of myocardial oxygen supply and demand. The dysfunction is located at the level of the coronary microcirculation with vessel diameters < 500 µm and structural as well as functional alterations have been described. The underlying mechanisms are diverse, frequently overlap and are still incompletely understood. Among others, conditions such as chronic inflammation, estrogen deficiency and a genetic familial predisposition have been reported. A common and often underdiagnosed clinical manifestation of CMD is found in patients who have symptoms of angina pectoris but no obstructive epicardial coronary artery disease or myocardial disease. The CMD can be diagnosed using non-invasive procedures, such as the combination of coronary computed tomography (CT) angiography and cardiac stress magnetic resonance imaging (MRI) or coronary CT and positron emission tomography (PET). In addition, invasive coronary vasomotor assessment is also suitable. Very little evidence is available regarding the effectiveness of pharmacological treatment of CMD. The current European Society of Cardiology (ESC) guidelines on the management of stable coronary artery disease from 2013 recommend using acetylsalicylic acid (ASS) and a statin as well as beta blockers and/or calcium channel blockers. Patients with CMD have an elevated risk for coronary events and death of approximately 1.7 % per year. Moreover, there is an increased morbidity with frequent presentations in practices and emergency admissions. Clinical research efforts should aim at a better characterization of the underlying mechanisms of CMD in order to develop targeted treatment approaches. PMID:27255117

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

    PubMed Central

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

    2015-01-01

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

  15. Fragile X-associated Tremor/Ataxia Syndrome (FXTAS): Clinical Phenotype, Diagnosis and Treatment

    PubMed Central

    Leehey, Maureen A.

    2009-01-01

    Fragile X-associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder caused by a CGG repeat expansion in the premutation range (55-200) in the fragile X mental retardation 1 gene. Onset is typically in the early seventh decade and men are principally affected. The major signs are cerebellar gait ataxia, intention tremor, frontal executive dysfunction, and global brain atrophy. Other frequent findings are parkinsonism (mild), peripheral neuropathy, psychiatric symptoms (depression, anxiety, agitation), and autonomic dysfunction. The clinical presentation is heterogeneous, with individuals presenting with varied dominating signs, such as tremor, dementia or neuropathy. MR imaging shows atrophy and patchy white matter lesions in the cerebral hemispheres and middle cerebellar peduncles. The latter has been designated the ‘MCP sign’, occurs in about 60% of affected men, and is relatively specific for FXTAS. Affected females generally have less severe disease, less cognitive decline, and some symptoms different from that of men, e.g., muscle pain. Management of FXTAS is complex and includes assessment of the patient's neurological and medical deficits, treatment of symptoms, and provision of relevant referrals, especially genetic counseling. Treatment is empiric, based on anecdotal experience and on knowledge of what works for symptoms of other disorders that also exist in FXTAS. Presently the disorder is under-recognized, since the first published report was in 2001, and since the presentation is variable and mainly consists of a combination of signs common in the elderly. However, accurate diagnosis is critical, for the patient and for the family, as they need education regarding their genetic and health risks. PMID:19574929

  16. Mucocele and fibroma: treatment and clinical features for differential diagnosis.

    PubMed

    Valério, Rodrigo Alexandre; de Queiroz, Alexandra Mussolino; Romualdo, Priscila Coutinho; Brentegani, Luiz Guilherme; de Paula-Silva, Francisco Wanderley Garcia

    2013-01-01

    Mucocele is a benign lesion occurring in the buccal mucosa as a result of the rupture of a salivary gland duct and consequent outpouring of mucin into soft tissue. It is usually caused by a local trauma, although in many cases the etiology is uncertain. Mucocele is more commonly found in children and young adults, and the most frequent site is the lower inner portion of the lips. Fibroma, on the other hand, is a benign tumor of fibrous connective tissue that can be considered a reactionary connective tissue hyperplasia in response to trauma and irritation. They usually present hard consistency, are nodular and asymptomatic, with a similar color to the mucosa, sessile base, smooth surface, located in the buccal mucosa along the line of occlusion, tongue and lip mucosa. Conventional treatment for both lesions is conservative surgical excision. Recurrence rate is low for fibroma and high for oral mucoceles. This report presents a series of cases of mucocele and fibroma treated by surgical excision or enucleation and the respective follow-up routine in the dental clinic and discusses the features to be considered in order to distinguish these lesions from each other.

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

    PubMed

    Levin, Harvey S; Diaz-Arrastia, Ramon R

    2015-05-01

    Concussion and mild traumatic brain injury (TBI) are interchangeable terms to describe a common disorder with substantial effects on public health. Advances in brain imaging, non-imaging biomarkers, and neuropathology during the past 15 years have required researchers, clinicians, and policy makers to revise their views about mild TBI as a fully reversible insult that can be repeated without consequences. These advances have led to guidelines on management of mild TBI in civilians, military personnel, and athletes, but their widespread dissemination to clinical management in emergency departments and community-based health care is still needed. The absence of unity on the definition of mild TBI, the scarcity of prospective data concerning the long-term effects of repeated mild TBI and subconcussive impacts, and the need to further develop evidence-based interventions to mitigate the long-term sequelae are areas for future research that will improve outcomes, reduce morbidity and costs, and alleviate delayed consequences that have only recently come to light. PMID:25801547

  18. Alternaria infections: laboratory diagnosis and relevant clinical features.

    PubMed

    Pastor, F J; Guarro, J

    2008-08-01

    The genus Alternaria contains several species of melanized hyphomycetes that cause opportunistic human infections. The published literature contains 210 reported cases of human alternarioses between 1933 and the present day. The most frequent clinical manifestations are cutaneous and subcutaneous infections (74.3%), followed by oculomycosis (9.5%), invasive and non-invasive rhinosinusitis (8.1%) and onychomycosis (8.1%). Immunosuppression is frequently associated with cutaneous and subcutaneous infections and rhinosinusitis. The most important risk factors for cutaneous and subcutaneous infections are solid organ transplantation and Cushing's syndrome, and those for rhinosinusitis are bone marrow transplants. Having been exposed to soil and garbage is common in all cases of oculomycosis, with corticotherapy being a risk factor in 50% of these cases. Previous contact with soil and/or trauma to the nails is associated with most cases of onychomycosis. In general, alternariosis shows a good response to conventional antifungal drugs. On some occasions, steroid suppression or reduction is sufficient to resolve an infection. Itraconazole is the antifungal drug used most frequently to successfully treat onychomycosis and cutaneous and subcutaneous infections. Posaconazole and voriconazole are promising therapeutic options, with the latter being especially so for oculomycosis.

  19. Mucocele and fibroma: treatment and clinical features for differential diagnosis.

    PubMed

    Valério, Rodrigo Alexandre; de Queiroz, Alexandra Mussolino; Romualdo, Priscila Coutinho; Brentegani, Luiz Guilherme; de Paula-Silva, Francisco Wanderley Garcia

    2013-01-01

    Mucocele is a benign lesion occurring in the buccal mucosa as a result of the rupture of a salivary gland duct and consequent outpouring of mucin into soft tissue. It is usually caused by a local trauma, although in many cases the etiology is uncertain. Mucocele is more commonly found in children and young adults, and the most frequent site is the lower inner portion of the lips. Fibroma, on the other hand, is a benign tumor of fibrous connective tissue that can be considered a reactionary connective tissue hyperplasia in response to trauma and irritation. They usually present hard consistency, are nodular and asymptomatic, with a similar color to the mucosa, sessile base, smooth surface, located in the buccal mucosa along the line of occlusion, tongue and lip mucosa. Conventional treatment for both lesions is conservative surgical excision. Recurrence rate is low for fibroma and high for oral mucoceles. This report presents a series of cases of mucocele and fibroma treated by surgical excision or enucleation and the respective follow-up routine in the dental clinic and discusses the features to be considered in order to distinguish these lesions from each other. PMID:24474300

  20. Sickle cell trait diagnosis: clinical and social implications

    PubMed Central

    Naik, Rakhi P.; Haywood, Carlton

    2015-01-01

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

  1. Sickle cell trait diagnosis: clinical and social implications.

    PubMed

    Naik, Rakhi P; Haywood, Carlton

    2015-01-01

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

  2. Clinical validation of surface-enhanced Raman scattering-based immunoassays in the early diagnosis of rheumatoid arthritis.

    PubMed

    Chon, Hyangah; Wang, Rui; Lee, Sangyeop; Bang, So-Young; Lee, Hye-Soon; Bae, Sang-Cheol; Hong, Sung Hyun; Yoon, Young Ho; Lim, Dong Woo; deMello, Andrew J; Choo, Jaebum

    2015-11-01

    We assessed the clinical feasibility of conducting immunoassays based on surface-enhanced Raman scattering (SERS) in the early diagnosis of rheumatoid arthritis (RA). An autoantibody against citrullinated peptide (anti-CCP) was used as a biomarker, magnetic beads conjugated with CCP were used as substrates, and the SERS nanotags were comprised of anti-human IgG-conjugated hollow gold nanospheres (HGNs). We were able to determine the anti-CCP serum levels successfully by observing the distinctive Raman intensities corresponding to the SERS nanotags. At high concentrations of anti-CCP (>25 U/mL), the results obtained from the SERS assay confirmed those obtained via an ELISA-based assay. Nevertheless, quantitation via our SERS-based assay is significantly more accurate at low concentrations (<25 U/mL). In this study, we compared the results of an anti-CCP assay of 74 clinical blood samples obtained from the SERS-based assay to that of a commercial ELISA kit. The results of the anti-CCP-positive group (n = 31, >25 U/mL) revealed a good correlation between the ELISA and SERS-based assays. However, in the anti-CCP-negative group (n = 43, <25 U/mL), the SERS-based assay was shown to be more reproducible. Accordingly, we suggest that SERS-based assays are novel and potentially useful tools in the early diagnosis of RA.

  3. Clinical Value of 99Tcm-MDP SPECT Bone Scintigraphy in the Diagnosis of Unilateral Condylar Hyperplasia

    PubMed Central

    Wen, Bing; Shen, Ying; Wang, Chang-Yin

    2014-01-01

    Purpose. To investigate the clinical value of 99Tcm-MDP SPECT for the diagnosis of unilateral condylar hyperplasia (UCH). Methods. One hundred forty-nine patients who underwent mandibular 99Tcm-MDP SPECT between January 2009 and December 2012 were studied, including 105 cases that were clinically suspected of UCH and 44 comparable cases without UCH as a control group. Results. Increased bone activity was observed in the affected condyles for all UCH patients. In the UCH group, the relative percentage uptake on the affected side was 59% (SD ± 4.3%), significantly higher than the 41% (SD ± 4.1%) uptake on the contralateral side (P<0.001). Similarly, the condyle/skull ratio was significantly higher for the affected side (1.66 ± 0.63) than for the contralateral side (1.34 ± 0.34, P < 0.01. No significant difference was found in the control group between the left and right condyles. Values for the sensitivity (95%), specificity (61%), positive (84.4%) and negative (84.6%) predictive values, and accuracy (84.5%) for 99Tcm-MDP SPECT in the diagnosis of UCH were calculated. However, for the hyperplastic condyle, no correlation was observed between the thickness of each cartilage layer and the relative uptake in the SPECT image. Conclusion. 99Tcm-MDP SPECT is accurate for diagnosing UCH and can provide a reference for treatment options. PMID:24901015

  4. Methods and application of bone densitometry in clinical diagnosis

    SciTech Connect

    Wahner, H.W.; Riggs, B.L.

    1986-01-01

    With the awareness of osteoporosis as a major health problem for an aging population, there is great interest in early recognition and treatment of abnormal bone loss. Effective prevention of bone loss has to occur prior to the occurrence of irreparable damage. Standard radiographic procedures are not sensitive enough for the task. Therefore, a number of alternative procedures to estimate bone loss have been developed over the years, ranging from efforts to quantitate information obtained from radiographic images to sophisticated procedures such as neutron activation analysis or procedures based on the Compton scatter phenomenon. Only two procedures, photon absorptiometry and computed tomography (CT), have emerged as applicable for routine clinical use. In photon absorptiometry the entire bone mineral (cortical and trabecular bone) of a specific skeletal site is measured. CT allows measuring of bone mineral of trabecular or cortical bone alone. Normally, bone mass reaches a maximum in the third decade and then continuously declines. This age-related bone loss is greater in women in whom an accelerated rate of loss occurs at the menopause. When bone density reaches a critical fracture threshold, skeletal fractures occur (spine, hip, and distal long bones). The age at which this critical fracture threshold is reached depends on the maximal bone mass achieved in early adulthood and the rate of loss with increasing age. With the exception of NaF, present-day therapeutic efforts only retard or prevent bone loss but do not significantly add bone mineral to the skeleton. Recognition of high-risk groups and early treatment are therefore required. 79 references.

  5. Accuracy of Clinical Suspicion and Pathologic Diagnosis of Kaposi Sarcoma in East Africa

    PubMed Central

    Woodruff, Carina Martin; Forrestel, Amy; Wenger, Megan; McCalmont, Timothy; LeBoit, Philip; Maurer, Toby; Laker-Oketta, Miriam; Muyindike, Winnie; Bwana, Mwebesa; Buziba, Nathan; Busakhala, Naftali; Wools-Kaloustian, Kara; Martin, Jeffrey

    2016-01-01

    Background: HIV-associated Kaposi sarcoma (KS) is one of the most common malignancies in sub-Saharan Africa. The diagnosis is often based on clinical suspicion, without histopathologic confirmation. When biopsies are performed, the accuracy of interpretation by local pathologists is poorly understood. We assessed the accuracy of clinical suspicion and pathologic diagnosis of KS in 2 East African countries. Methods: At 2 large HIV care sites in Uganda and Kenya, we evaluated consecutive biopsies performed from October 2008 to January 2013 on HIV-infected adults with clinically suspected KS. Biopsies were interpreted by both local African pathologists and a group of US-based dermatopathologists from a high volume medical center. For the purpose of this analysis, the US-based dermatopathologist interpretation was used as the gold standard. Positive predictive value was used to characterize accuracy of local African clinical suspicion of KS, and concordance, sensitivity, and specificity were used to characterize accuracy of local pathologic diagnosis. Results: Among 1106 biopsies, the positive predictive value of clinical suspicion of KS was 77% (95% confidence interval: 74% to 79%). When KS was not histopathologically diagnosed, clinically banal conditions were found in 35%, medically significant disorders which required different therapy in 59% and life-threatening diseases in 6%. Concordance between African pathologists and US-based dermatopathologists was 69% (95% confidence interval: 66% to 72%). Sensitivity and specificity of African pathologic diagnoses were 68% and 89%, respectively. Conclusions: Among East African HIV-infected patients, we found suboptimal positive predictive value of clinical suspicion of KS and specific, but not sensitive, histopathologic interpretation. The findings call for abandonment of isolated clinical diagnosis of KS in the region and augmentation of local dermatopathologic services. PMID:26452066

  6. Clinical Considerations of Preimplantation Genetic Diagnosis for Monogenic Diseases

    PubMed Central

    Hu, Xiaokun; Wang, Jing; Li, Yubin; Wang, Yizi; Ding, Chenhui; Zeng, Yanhong; Xu, Yanwen; Zhou, Canquan

    2015-01-01

    Purpose The aim of this study was to explore factors contribute to the success of PGD cycles for monogenic diseases. Methods During a 3-year period (January 2009 to December 2012), 184 consecutive ICSI-PGD cycles for monogenic diseases reaching the ovum pick-up and fresh embryo-transfer stage performed at the Reproductive Medicine Center of The First Affiliated Hospital Of Sun Yat-sen University were evaluated. Results ICSI was performed on 2206 metaphase II oocytes, and normal fertilization and cleavage rates were 83.4% (1840/2206) and 96.2% (1770/1840), respectively. In the present study, 60.5% (181/299) of day 3 good-quality embryos developed into good-quality embryos on day 4 after biopsy. Collectively, 42.9% clinical pregnancy rate (79/184) and 28.5% implantation rate (111/389) were presented. In the adjusted linear regression model, the only two significant factors affecting the number of genetically unaffected embryos were the number of biopsied embryos (coefficient: 0.390, 95%CI 0.317–0.463, P = 0.000) and basal FSH level (coefficient: 0.198, 95%CI 0.031–0.365, P = 0.021). In the adjusted binary logistic regression model, the only two significant factors affecting pregnancy outcome were the number of genetically available transferable embryos after PGD (adjusted OR 1.345, 95% CI 1.148–1.575, P = 0.000) and number of oocyte retrieved (adjusted OR 0.934, 95% CI 0.877–0.994, P = 0.031). Conclusion There should be at least four biopsied embryos to obtain at least one unaffected embryos in a PGD system for patients with single gene disorder and under the condition of basal FSH level smaller than 8.0mmol/L. Moreover, if only a low number (< 4) of biopsied embryos are available on day 3, the chance of unaffected embryos for transfer was small, with poor outcome. PMID:26421428

  7. Clinical and Pathological Manifestations with Differential Diagnosis in Behçet's Disease

    PubMed Central

    Kokturk, Aysin

    2012-01-01

    Behçet's disease is a multisystemic inflammatory disease of unknown etiology which usually occurs as a trait of symptoms: aphthous stomatitis, genital ulcerations, and ocular disease. At the beginning of the disease the diagnosis is uncertain because of various clinical manifestations and a long period up to the full clinical picture manifestation. Since neither the laboratory data nor the histopathological signs are truly pathognomonic in Behçet's disease, the differential diagnosis depends on a careful evaluation of the medical history and meticulous physical examination to detect concomitant systemic manifestations. Sometimes, some laboratory test may help establish the diagnosis. Subspecialty referral to ophthalmology, rheumatology, neurology, and gastroenterology should be considered when indicated. PMID:22191082

  8. [Efficacy of neoadjuvant chemoradiation therapy for clinical Stage II cholangiocarcinoma as a preoperative diagnosis].

    PubMed

    Nakagawa, Kei; Katayose, Yu; Unno, Michiaki

    2012-11-01

    We performed a clinical trial of neoadjuvant chemoradiation therapy for cholangiocarcinoma with a preoperative diagnoses of clinical Stage III and IV. We examined the effect of preoperative chemoradiation for cStage II bile duct cancer. From 2008 until 2011, 75 cases were compared in terms of the preoperative diagnosis and pathological diagnosis of cholangiocarcinoma in our department. Additionally, 19 cases had been diagnosed as cStage II. However, 12 cases were higher than pStage III in their pathological diagnosis. We did not obtain pCur A in only 12 cases(63%). On the other hand, we obtained HM0, DM0, EM0, and pCur A in 5 patients with cStage II cholangiocarcinoma who underwent preoperative chemoradiation therapy. The neoadjuvant chemoradiation therapy for cholangiocarcinoma may control local cancer progression, thereby improving the surgical results of cStage II cholangiocarcinoma in this study. PMID:23267938

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

    PubMed Central

    Caboche, Ségolène; Audebert, Christophe; Hot, David

    2014-01-01

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

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

    PubMed Central

    Murphy, Donald R.

    2004-01-01

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

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

    NASA Astrophysics Data System (ADS)

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

    2004-01-01

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

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

    ERIC Educational Resources Information Center

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

    2014-01-01

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

  13. Predictive value of clinical and laboratory findings in the diagnosis of the enteric fever.

    PubMed

    Kuvandik, Ceren; Karaoglan, Ilkay; Namiduru, Mustafa; Baydar, Ibrahim

    2009-01-01

    Although the definitive diagnosis of enteric fever requires the isolation of Salmonella enterica serotype typhi or paratyphi, the diagnosis is usually made according to clinical and laboratory findings. There is usually a diagnostic dilemma. The aim of this study was to determine the minimum required parameters that could be valuable in the diagnosis of enteric fever. A retrospective study was performed to compare the clinical and laboratory findings in 60 patients who proved to have enteric fever by cultures and 58 patients with non-enteric fever. Features independently predictive of enteric fever were assessed by multivariate logistic regression. Sensitivity, specificity and positive predictive and negative predictive values were estimated. Significant clinical features of enteric fever were hepatomegaly, splenomegaly, relative bradycardia, rose spots, leucopenia, trombocytopenia, eosinopenia and elevated AST level. Five of these features were found to be predictive for the diagnosis of enteric fever; splenomegaly, relative bradycardia, rose spots and trombocytopenia and elevated AST level. In conclusion, clinical and laboratory findings can help the clinician to diagnose enteric fever in the absence of microbiological confirmation. PMID:19382666

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

    ERIC Educational Resources Information Center

    Jirikowic, Tracy; Gelo, Julie; Astley, Susan

    2010-01-01

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

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

    PubMed Central

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

    2015-01-01

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

  16. Comparison of the clinical diagnosis and subsequent autopsy findings in medical malpractice.

    PubMed

    Pakis, Isil; Polat, Oguz; Yayci, Nesime; Karapirli, Mustafa

    2010-09-01

    The rate of diagnostic error has not declined over the last 30 years despite the improvement in diagnosis methods. Today, the probability to encounter a major diagnostic change in autopsy is still high. The special autopsy that provides clinicians the necessary feedback is performed seldom in our country. This study has been started upon the claim that the malpractice cases in scope of forensic cases could be a very useful database. About 525 cases with faulty medical application that resulted in death have been encountered according to the cases that have been sent to the Forensic Medical Institution, which has been the consultative authority of the Ministry of Justice between the years 2001 and 2005. Among these, 375 cases on which autopsies have been conducted are included in the scope of the study. The cases with and without major diagnostic changes have been compared in aspects of gender, age groups, and period spent in health units. When the concordance between autopsy and clinical diagnosis for the 375 cases that were included in the study is examined, it can be seen that clinical diagnosis is verified with autopsy in 49.1% of the cases whereas neither autopsy nor clinical diagnosis was encountered in 14.7% of them. The diseases where diagnostic faults are mostly encountered are ruptured aortic aneurysm, myocardial infarction and pneumonia. The majority of the cases without a clinical diagnosis comprises of complications that occur after operations. In the study, considerable major diagnostic changes were realized after autopsy, which shows that autopsy has an important place in Turkey in spite of the improved methods of diagnosis. Also, in the cases with major diagnostic changes, the medical malpractice rate was high. This shows that autopsy is influential in revealing medical malpractice failures. In the study, we found out that the number of autopsies was high in the cases with a malpractice claim. We aim to increase this number. We are sure that such

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

    PubMed Central

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

    2016-01-01

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

  18. Histopathological features predictive of a clinical diagnosis of ophthalmic granulomatosis with polyangiitis (GPA)

    PubMed Central

    Isa, Hazlita; Lightman, Sue; Luthert, Philip J; Rose, Geoffrey E; Verity, David H; Taylor, Simon RJ

    2012-01-01

    Background The limited form of Granulomatosis with Polyangiitis (GPA), formerly known as Wegener’s Granulomatosis (WG) primarily involves the head and neck region, including the orbit, but is often a diagnostic challenge, particularly as it commonly lacks positive anti-neutrophil cytoplasm antibody (ANCA) titres or classical features on diagnostic orbital biopsies. The purpose of this study was to relate biopsy findings with clinical outcome and to determine which histopathological features are predictive of a clinical diagnosis of GPA. Methods Retrospective case series of 234 patients identified from the database of the UCL Institute of Ophthalmology Department of Eye Pathology as having had orbital biopsies of orbital inflammatory disorders performed between 1988 and 2009. Clinical records were obtained for the patients and analysed to see whether patients had GPA or not, according to a standard set of diagnostic criteria (excluding any histopathological findings). Biopsy features were then correlated with the clinical diagnosis in univariate and multivariate analyses to determine factors predictive of GPA. Results Of the 234 patients, 36 were diagnosed with GPA and 198 with other orbital pathologies. The majority of biopsies were from orbital masses (47%). Histology showed a range of acute and chronic inflammatory pictures in all biopsies, but the presence of neutrophils (P<0.001), vasculitis (P<0.001), necrosis (P<0.001), eosinophils (P<0.02) and macrophages (P=0.05) were significantly associated with a later clinical diagnosis of GPA. In a multivariate analysis, only tissue neutrophils (OR=3.6, P=0.01) and vasculitis (OR=2.6, P=0.02) were independently associated with GPA, in contrast to previous reports associating eosinophils and necrosis with the diagnosis. Conclusions Neutrophil, eosinophil and macrophage infiltration of orbital tissues, together with vasculitis and necrosis, are all associated with a clinical diagnosis of GPA, but only neutrophil

  19. Seroprevalence and seroconversion of dengue and implications for clinical diagnosis in amazonian children.

    PubMed

    Martins, Antonio Camargo; Pereira, Thasciany Moraes; Oliart-Guzmán, Humberto; Delfino, Breno Matos; Mantovani, Saulo Augusto Silva; Braña, Athos Muniz; Branco, Fernando Luiz Cunha Castelo; Filgueira Júnior, José Alcântara; Santos, Ana Paula; Ramalho, Alanderson Alves; Guimarães, Andréia Silva; de Araújo, Thiago Santos; Oliveira, Cristieli Sérgio de Menezes; da Fonseca, Benedito Antônio Lopes; da Silva-Nunes, Mônica

    2014-01-01

    This study aimed to evaluate the prevalence of serum IgG dengue in children in an Amazonian population, to assess the seroconversion rate in 12 months, and to estimate how many seropositive children had a prior clinical diagnosis of dengue. We conducted a population-based study between 2010 and 2011, with children aged 6 months to 12 years that were living in the urban area of a small town in the Brazilian Amazon. The prevalence of IgG antibodies against dengue antigens was determined by indirect ELISA technique, and seronegative children were reexamined after 12 months to determine seroconversion rates. Results showed seroprevalence of IgG antibodies against dengue type of 2.9%, with no significant association between age, race, and sex. In seropositive children, only 8.4% had received a clinical diagnosis of dengue, and the ratio of clinically diagnosed cases and subclinical cases was 1 : 11. The seroconversion rate between 2010 and 2011 was 1.4% (CI 3.8% to 35.1%). The seroprevalence of dengue in this pediatric population was low, and the vast majority of cases were not clinically detected, suggesting a difficulty in making the clinical diagnosis in children and a high frequency of asymptomatic infections. PMID:25548558

  20. Seroprevalence and Seroconversion of Dengue and Implications for Clinical Diagnosis in Amazonian Children

    PubMed Central

    Martins, Antonio Camargo; Pereira, Thasciany Moraes; Oliart-Guzmán, Humberto; Delfino, Breno Matos; Mantovani, Saulo Augusto Silva; Braña, Athos Muniz; Branco, Fernando Luiz Cunha Castelo; Filgueira Júnior, José Alcântara; Santos, Ana Paula; Ramalho, Alanderson Alves; Guimarães, Andréia Silva; de Araújo, Thiago Santos; Oliveira, Cristieli Sérgio de Menezes; da Fonseca, Benedito Antônio Lopes; da Silva-Nunes, Mônica

    2014-01-01

    This study aimed to evaluate the prevalence of serum IgG dengue in children in an Amazonian population, to assess the seroconversion rate in 12 months, and to estimate how many seropositive children had a prior clinical diagnosis of dengue. We conducted a population-based study between 2010 and 2011, with children aged 6 months to 12 years that were living in the urban area of a small town in the Brazilian Amazon. The prevalence of IgG antibodies against dengue antigens was determined by indirect ELISA technique, and seronegative children were reexamined after 12 months to determine seroconversion rates. Results showed seroprevalence of IgG antibodies against dengue type of 2.9%, with no significant association between age, race, and sex. In seropositive children, only 8.4% had received a clinical diagnosis of dengue, and the ratio of clinically diagnosed cases and subclinical cases was 1 : 11. The seroconversion rate between 2010 and 2011 was 1.4% (CI 3.8% to 35.1%). The seroprevalence of dengue in this pediatric population was low, and the vast majority of cases were not clinically detected, suggesting a difficulty in making the clinical diagnosis in children and a high frequency of asymptomatic infections. PMID:25548558

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

    PubMed

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

    2014-07-01

    Demographic and clinical factors may influence assessment of autism symptoms. This study evaluated these correlates and also examined whether social communication and interaction and restricted/repetitive behavior provided unique prediction of autism spectrum disorder diagnosis. We analyzed data from 7352 siblings included in the Interactive Autism Network registry. Social communication and interaction and restricted/repetitive behavior symptoms were obtained using caregiver-reports on the Social Responsiveness Scale. Demographic and clinical correlates were covariates in regression models predicting social communication and interaction and restricted/repetitive behavior symptoms. Logistic regression and receiver operating characteristic curve analyses evaluated the incremental validity of social communication and interaction and restricted/repetitive behavior domains over and above global autism symptoms. Autism spectrum disorder diagnosis was the strongest correlate of caregiver-reported social communication and interaction and restricted/repetitive behavior symptoms. The presence of comorbid diagnoses also increased symptom levels. Social communication and interaction and restricted/repetitive behavior symptoms provided significant, but modest, incremental validity in predicting diagnosis beyond global autism symptoms. These findings suggest that autism spectrum disorder diagnosis is by far the largest determinant of quantitatively measured autism symptoms. Externalizing (attention deficit hyperactivity disorder) and internalizing (anxiety) behavior, low cognitive ability, and demographic factors may confound caregiver-report of autism symptoms, potentially necessitating a continuous norming approach to the revision of symptom measures. Social communication and interaction and restricted/repetitive behavior symptoms may provide incremental validity in the diagnosis of autism spectrum disorder. PMID:24104512

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

    PubMed

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

    2013-05-01

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

  3. Children and youth with fetal alcohol spectrum disorders: summary of intervention recommendations after clinical diagnosis.

    PubMed

    Jirikowic, Tracy; Gelo, Julie; Astley, Susan

    2010-10-01

    Children with fetal alcohol spectrum disorders (FASDs) present with a wide range of developmental disabilities; however, clinical standards of care after a diagnosis are not well established. This retrospective review summarizes the types of intervention recommendations generated by an interdisciplinary FASD diagnostic team for 120 children ages 0.2 to 16.5 years receiving an FASD diagnosis at the University of Washington FAS Diagnostic & Prevention Network Clinic. Intervention recommendations documented in a FASD diagnostic summary report and submitted to each patient's medical record were subject to masked review and content analysis. Intervention recommendations were compared across 3 FASD diagnostic groups and selected demographic variables. The results show the type and frequency of services, supports, and resources recommended to a clinical sample of children with FASD. PMID:20973697

  4. A clinical perspective on ethical arguments around prenatal diagnosis and preimplantation genetic diagnosis for later onset inherited cancer predispositions.

    PubMed

    Clancy, Tara

    2010-03-01

    Prenatal diagnosis (PND) and preimplantation genetic diagnosis (PGD) for later onset and/or reduced penetrance inherited cancer predispositions, e.g. familial adenomatous polyposis, hereditary non-polyposis colorectal cancer/Lynch syndrome and hereditary breast and ovarian cancer, raise a number of ethical issues. Some of these are the same as for conditions which present early in childhood, are fully penetrant and for which no/limited treatment options are possible; others relate to whether reduced penetrance and/or the availability of treatment mean that these are not serious (enough) conditions to warrant tests prior to/during pregnancy or to justify termination of pregnancy. However, attempts to reach a consensus on what counts as a serious (enough) condition in the context of PND and PGD have been unsuccessful. Such a definition may anyway be unhelpful if it cannot also take into account, for example, the woman's/couple's awareness and experience of the condition and the impact of the condition on affected individuals and their families. Individuals affected by, or at high risk of, later onset and/or reduced penetrance inherited cancer predispositions are generally supportive of access to PND and PGD for their own conditions, even if they would not consider using it themselves. Professionals working in clinical cancer genetics need to be prepared to discuss PND and PGD with this group of patients. PMID:19644768

  5. A clinical perspective on ethical arguments around prenatal diagnosis and preimplantation genetic diagnosis for later onset inherited cancer predispositions.

    PubMed

    Clancy, Tara

    2010-03-01

    Prenatal diagnosis (PND) and preimplantation genetic diagnosis (PGD) for later onset and/or reduced penetrance inherited cancer predispositions, e.g. familial adenomatous polyposis, hereditary non-polyposis colorectal cancer/Lynch syndrome and hereditary breast and ovarian cancer, raise a number of ethical issues. Some of these are the same as for conditions which present early in childhood, are fully penetrant and for which no/limited treatment options are possible; others relate to whether reduced penetrance and/or the availability of treatment mean that these are not serious (enough) conditions to warrant tests prior to/during pregnancy or to justify termination of pregnancy. However, attempts to reach a consensus on what counts as a serious (enough) condition in the context of PND and PGD have been unsuccessful. Such a definition may anyway be unhelpful if it cannot also take into account, for example, the woman's/couple's awareness and experience of the condition and the impact of the condition on affected individuals and their families. Individuals affected by, or at high risk of, later onset and/or reduced penetrance inherited cancer predispositions are generally supportive of access to PND and PGD for their own conditions, even if they would not consider using it themselves. Professionals working in clinical cancer genetics need to be prepared to discuss PND and PGD with this group of patients.

  6. Development and assessment of a clinically viable system for breast ultrasound computer-aided diagnosis

    NASA Astrophysics Data System (ADS)

    Gruszauskas, Nicholas Peter

    The chances of surviving a breast cancer diagnosis as well as the effectiveness of any potential treatments increase significantly with early detection of the disease. As such, a considerable amount of research is being conducted to augment the breast cancer detection and diagnosis process. One such area of research involves the investigation and application of sophisticated computer algorithms to assist clinicians in detecting and diagnosing breast cancer on medical images (termed generally as "computer-aided diagnosis" or CAD). This study investigated a previously-developed breast ultrasound CAD system with the intent of translating it into a clinically-viable system. While past studies have demonstrated that breast ultrasound CAD may be a beneficial aid during the diagnosis of breast cancer on ultrasound, there are no investigations concerning its potential clinical translation and there are currently no commercially-available implementations of such systems. This study "bridges the gap" between the laboratory-developed system and the steps necessary for clinical implementation. A novel observer study was conducted that mimicked the clinical use of the breast ultrasound CAD system in order to assess the impact it had on the diagnostic performance of the user. Several robustness studies were also performed: the sonographic features used by the system were evaluated and the databases used for calibration and testing were characterized, the effect of the user's input was assessed by evaluating the performance of the system with variations in lesion identification and image selection, and the performance of the system on different patient populations was investigated by evaluating its performance on a database consisting solely of patients with Asian ethnicity. The analyses performed here indicate that the breast ultrasound CAD system under investigation is robust and demonstrates only minor variability when subjected to "real-world" use. All of these results are

  7. Accuracy of the clinical diagnosis of recessive X-linked ichthyosis vs ichthyosis vulgaris.

    PubMed

    Cuevas-Covarrubias, S A; Kofman-Alfaro, S H; Palencia, A B; Díaz-Zagoya, J C

    1996-09-01

    The present study analyzes the accuracy of the clinical diagnosis of X-linked ichthyosis (XLI) vs ichthyosis vulgaris (IV), in a sample of Mexican patients. The study was double blind, using steroid sulfatase (STS) activity as the golden standard. Twenty male patients were included; 16 corresponded to XLI and 4 to IV. The clinical diagnosis was correct in 9 of the 16 XLI cases (56%) and in 2 of the 4 IV cases (50%). Some clinical findings in XLI, such as cryptorchidism in patients and delayed labor in their mothers, were important features for diagnosis. Statistical analysis of the results showed: among physicians (n = 2) Kappa value 0.50, specific concordance 0.40, and absolute concordance 0.75; other values were sensibility 0.56, specificity 0.50, positive predictive value 0.82, negative predictive value 0.22, accuracy 0.55, prevalence 0.80. In conclusion, the differential diagnosis of XLI and IV is very difficult, and we consider that this is not explained either by personal skills or by other conditions. It could be attributed to the similarities in skin manifestations of these two diseases. The performance of the STS assay is imperative in order to correctly diagnose the disease and offer adequate genetic counseling.

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

    PubMed Central

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

    2014-01-01

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

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

    PubMed Central

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

    2015-01-01

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

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

    PubMed

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

    2015-10-01

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

  11. The clinical diagnosis and treatment about 22 cases of limbic encephalitis were retrospectively analyzed.

    PubMed

    Zang, Weiping; Zhang, Zhijun; Feng, Laihui; Zhang, Ailing

    2016-03-01

    To summarize and analyze the clinical characteristics and treatment of limbic encephalitis, in order to provide the basis for clinical work. We retrospectively analyzed the clinical characteristics, magnetic resonance imaging (MRI), cerebrospinal fluid (CSF) and self immune antibody results of 22 patients with limbic encephalitis in Zheng zhou people's Hospital from March 2013 to May 2014. 22 cases of patients with psychiatric disturbance, such as hallucinations being typical clinical manifestations: Memory decline in 18 cases: Seizures in 13 patients: Altered level of consciousness in 10 cases; Movement disorders in 7 cases and 9 cases with febrile.14 cases have relieved after treating with antiviral and immunosuppressive therapy, 5 cases left memory decline, 2 patients left overwhelmingly excited, 1 cases of seizures. The clinical symptoms of patients with limbic encephalitis are complicated changeable and unspecific. so earlier diagnosis and treatment are very important for the prognosis of patients. PMID:27113304

  12. Cognitive Impairment and Dementia in Parkinson’s Disease: Clinical Features, Diagnosis, and Management

    PubMed Central

    Meireles, Joana; Massano, João

    2012-01-01

    Parkinson’s disease (PD) is a common, disabling, neurodegenerative disorder. In addition to classical motor symptoms, non-motor features are now widely accepted as part of the clinical picture, and cognitive decline is a very important aspect of the disease, as it brings an additional significant burden for the patient and caregivers. The diagnosis of cognitive decline in PD, namely mild cognitive impairment (MCI) and dementia, can be extremely challenging, remaining largely based on clinical and cognitive assessments. Diagnostic criteria and methods for PD dementia and MCI have been recently issued by expert work groups. This manuscript has synthesized relevant data in order to obtain a pragmatic and updated review regarding cognitive decline in PD, from milder stages to dementia. This text will summarize clinical features, diagnostic methodology, and therapeutic issues of clinical decline in PD. Relevant clinical genetic issues, including recent advances, will also be approached. PMID:22654785

  13. The clinical diagnosis and treatment about 22 cases of limbic encephalitis were retrospectively analyzed.

    PubMed

    Zang, Weiping; Zhang, Zhijun; Feng, Laihui; Zhang, Ailing

    2016-03-01

    To summarize and analyze the clinical characteristics and treatment of limbic encephalitis, in order to provide the basis for clinical work. We retrospectively analyzed the clinical characteristics, magnetic resonance imaging (MRI), cerebrospinal fluid (CSF) and self immune antibody results of 22 patients with limbic encephalitis in Zheng zhou people's Hospital from March 2013 to May 2014. 22 cases of patients with psychiatric disturbance, such as hallucinations being typical clinical manifestations: Memory decline in 18 cases: Seizures in 13 patients: Altered level of consciousness in 10 cases; Movement disorders in 7 cases and 9 cases with febrile.14 cases have relieved after treating with antiviral and immunosuppressive therapy, 5 cases left memory decline, 2 patients left overwhelmingly excited, 1 cases of seizures. The clinical symptoms of patients with limbic encephalitis are complicated changeable and unspecific. so earlier diagnosis and treatment are very important for the prognosis of patients.

  14. Integration and Evaluation of Clinical Decision Support Systems for Diagnosis Idopathics Pulmonary Fibrosis (IPF)

    PubMed Central

    Chae, Youngmoon; Jeon, Sungwan

    2010-01-01

    Objectives The purpose of this study was to develop clinical decision support systems (CDSS) that are integrated with hospital information systems for the differential diagnosis of idiopathic pulmonary fibrosis (IPF). Methods The integrated CDSS were validated and evaluated by physicians. Knowledge modeling for diagnosing IPF was performed by knowledge working groups, composed of radiologists and respiratory specialists. In order to develop the model for CDSS diagnosis, the clinical cases were collected from 290 cases from Seoul National University Hospital and Sevrance Hospital of Yonsei University. For the evaluation of integrated CDSS, interviews were conducted with respiratory specialists and radiologist 2 weeks after applying CDSSs in clinical settings. The CDSS was integrated with the computer vision system (CVS) and diffuse parenchymal lung diseases (DPLD), CDSS developed in our previous project. Results Eighteen cases diagnosed as IPF were applied to the collection of diagnostic knowledge and the refined knowledge, the former diagnosed 1 case (6%) and the latter diagnosed 14 cases (78%). Therefore, the refined knowledge performed better than collected knowledge. The validation results of integrated CDSSs showed that 81 cases (74.3%) were diagnosed correctly. Conclusions There were 109 cases of IPF diagnosed and initiated on treatment. The significance of this study is in developing integrated CDSS with PACS by acquiring and redefining the knowledge needed for IPF diagnosis. In addition, it is significant for the integration of CDSS to verification and clinical evaluation. PMID:21818445

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

    PubMed Central

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

    2012-01-01

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

  16. Ultrasound in the diagnosis of peripheral neuropathy: structure meets function in the neuromuscular clinic.

    PubMed

    Gallardo, Elena; Noto, Yu-Ichi; Simon, Neil G

    2015-10-01

    Peripheral nerve ultrasound (US) has emerged as a promising technique for the diagnosis of peripheral nerve disorders. While most experience with US has been reported in the context of nerve entrapment syndromes, the role of US in the diagnosis of peripheral neuropathy (PN) has recently been explored. Distinctive US findings have been reported in patients with hereditary, immune-mediated, infectious and axonal PN; US may add complementary information to neurophysiological studies in the diagnostic work-up of PN. This review describes the characteristic US findings in PN reported to date and a classification of abnormal nerve US patterns in PN is proposed. Closer scrutiny of nerve abnormalities beyond assessment of nerve calibre may allow for more accurate diagnostic classification of PN, as well as contribute to the understanding of the intersection of structure and function in PN.

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

    PubMed Central

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

    2001-01-01

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

  18. Diagnosis and clinical manifestations of calcium pyrophosphate and basic calcium phosphate crystal deposition diseases.

    PubMed

    Ea, Hang-Korng; Lioté, Frédéric

    2014-05-01

    Basic calcium phosphate and pyrophosphate calcium crystals are the 2 main calcium-containing crystals that can deposit in all skeletal tissues. These calcium crystals give rise to numerous manifestations, including acute inflammatory attacks that can mimic alarming and threatening differential diagnoses, osteoarthritis-like lesions, destructive arthropathies, and calcific tendinitis. Awareness of uncommon localizations and manifestations such as intraspinal deposition (eg, crowned dens syndrome, tendinitis of longus colli muscle, massive cervical myelopathy compression) prevents inappropriate procedures and cares. Coupling plain radiography, ultrasonography, computed tomography, and synovial fluid analysis allow accurate diagnosis by directly or indirectly identifying the GRAAL of microcrystal-related symptoms.

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

    PubMed Central

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

    2016-01-01

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

  20. Targeted NGS meets expert clinical characterization: Efficient diagnosis of spastic paraplegia type 11.

    PubMed

    Castro-Fernández, Cristina; Arias, Manuel; Blanco-Arias, Patricia; Santomé-Collazo, Luis; Amigo, Jorge; Carracedo, Ángel; Sobrido, Maria-Jesús

    2015-06-01

    Next generation sequencing (NGS) is transforming the diagnostic approach for neurological disorders, since it allows simultaneous analysis of hundreds of genes, even based on just a broad, syndromic patient categorization. However, such an approach bears a high risk of incidental and uncertain genetic findings. We report a patient with spastic paraplegia whose comprehensive neurological and imaging examination raised a high clinical suspicion of SPG11. Thus, although our NGS pipeline for this group of disorders includes gene panel and exome sequencing, in this sample only the spatacsin gene region was captured and subsequently searched for mutations. Two probably pathogenic variants were quickly and clearly identified, confirming the diagnosis of SPG11. This case illustrates how combination of expert clinical characterization with highly oriented NGS protocols leads to a fast, cost-efficient diagnosis, minimizing the risk of findings with unclear significance.

  1. Toxic scarlet fever complicating cellulitis: early clinical diagnosis is crucial to prevent a fatal outcome.

    PubMed

    Lau, S K; Woo, P C; Yuen, K Y

    2004-04-01

    We describe a case of toxic scarlet fever in a healthy adult with streptococcal cellulitis of the right elbow as a result of skin abrasion. The clinical picture mimicked that of drug eruption after treatment of cellulitis with antibiotics. Among the five cases of scarlet fever complicating cellulitis, including the present one, reported in the English literature, four had severe systemic complications and two died. As a result of re-emergence of invasive streptococcal infections, clinicians should be aware of the differential diagnosis of scarlet fever in patients presenting with cellulitis and skin rash. Early clinical diagnosis is crucial to exclude drug eruptions, prompt initiation of antibiotic treatment, and prevention of the potentially fatal outcome.

  2. Clinical diagnosis support system based on case based fuzzy cognitive maps and semantic web.

    PubMed

    Douali, Nassim; De Roo, Jos; Jaulent, Marie-Christine

    2012-01-01

    Incorrect or improper diagnostic tests uses have important implications for health outcomes and costs. Clinical Decision Support Systems purports to optimize the use of diagnostic tests in clinical practice. The computerized medical reasoning should not only focus on existing medical knowledge but also on physician's previous experiences and new knowledge. Such medical knowledge is vague and defines uncertain relationships between facts and diagnosis, in this paper, Case Based Fuzzy Cognitive Maps (CBFCM) are proposed as an evolution of Fuzzy Cognitive Maps. They allow more complete representation of knowledge since case-based fuzzy rules are introduced to improve diagnosis decision. We have developed a framework for interacting with patient's data and formalizing knowledge from Guidelines in the domain of Urinary Tract Infection. The conducted study allowed us to test cognitive approaches for implementing Guidelines with Semantic Web tools. The advantage of this approach is to enable the sharing and reuse of knowledge from Guidelines, physicians experiences and simplify maintenance.

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

    PubMed Central

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

    2016-01-01

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

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

    PubMed Central

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

    2014-01-01

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

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

    PubMed Central

    Marzuka, Alexander G.; Book, Samuel E.

    2015-01-01

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

  6. Dengue haemorrhagic fever in Cuba. I. Serological confirmation of clinical diagnosis.

    PubMed

    Guzman, M G; Kouri, G P; Bravo, J; Calunga, M; Soler, M; Vazquez, S; Venereo, C

    1984-01-01

    Serological studies by the haemagglutinin inhibition test to confirm a clinical diagnosis of dengue were done on 406 patients during the dengue 2 epidemic in Cuba in 1981. 49% of the cases were serologically positive; of these 64% was classified as primary and 36% as secondary. The frequency of symptoms is described: the most frequent were fever, headache, malaise and vomiting. Haemorrhagic manifestations predominated significantly in the secondary cases. The white race and female sex were found to predominate in the positive cases.

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

    PubMed

    Granell, J; Puig, A; Benito, E

    2003-03-01

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

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

    PubMed Central

    Davidoff, Candice; Neitz, Maureen; Neitz, Jay

    2016-01-01

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

  9. Clinical diagnosis of caliber-persistent labial artery of the lower lip.

    PubMed

    Lovas, J G; Goodday, R H

    1993-10-01

    Only 14 cases of caliber-persistent labial artery of the lower lip have been reported to date. Six of these were misdiagnosed and treated as squamous cell carcinoma, another as a mucocele. The correct diagnosis emerged only after the wedge resections were examined histopathologically. We report the first cases of caliber-persistent labial artery to be diagnosed clinically since the original description of the condition by Howell and Freeman in 1973. Our first case was a nonpulsatile hard, linear, "gooseneck lamp" submucosal nodule of the lower lip. On the basis of an initial misdiagnosis of sclerosing sialadenitis, a biopsy was attempted. Brisk pulsatile bleeding proved the lesion to be an artery, and the superficial location and large diameter of the vessel lead to the clinical diagnosis of caliber-persistent labial artery. The "gooseneck lamp" hardening is typical of Monckeberg's arteriosclerosis. The second case was a pulsatile blue linear submucosal nodule of the lower lip. The clinical diagnosis of caliber-persistent labial artery was confirmed when angiography showed the lesion to be an abnormally dilated labial artery. Both cases were successfully ligated with no complications at 16 and 10 months after surgery. PMID:8233429

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

    PubMed

    Richards, Michael D; Wong, Agnes

    2015-12-01

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

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

    PubMed Central

    Davidoff, Candice; Neitz, Maureen; Neitz, Jay

    2016-01-01

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

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

    PubMed

    Zhu, Frank H; Ang, Jocelyn Y

    2016-09-01

    Kawasaki disease is an acute, self-limited vasculitis of childhood and has become the leading cause of acquired pediatric heart disease in the USA. Prompt treatment is essential in reducing cardiac-related morbidity and mortality. The underlying etiology remains unknown. The disease itself may be the characteristic manifestation of a common pathway of immune-mediated vascular inflammation in susceptible hosts. The characteristic clinical features of fever for at least 5 days with bilateral nonpurulent conjunctivitis, rash, changes in lips and oral cavity, changes in peripheral extremities, and cervical lymphadenopathy remain the mainstay of diagnosis. Supplementary laboratory criteria can aid in the diagnosis, particularly in cases of incomplete clinical presentation. Diagnosis of Kawasaki disease can be challenging as the clinical presentation can be mistaken for a variety of other pediatric illnesses. Standard of care consists of intravenous immune globulin and aspirin. Corticosteroids, infliximab, and cyclosporine A have been used as adjunct therapy for Kawasaki disease refractory to initial treatment. There is ongoing research into the use of these agents in the initial therapy of Kawasaki disease. PMID:27681743

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

    PubMed Central

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

    2014-01-01

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

  14. Cows' milk protein-sensitive enteropathy. Combined clinical and histological criteria for diagnosis.

    PubMed Central

    Iyngkaran, N; Robinson, M J; Prathap, K; Sumithran, E; Yadav, M

    1978-01-01

    Cows' milk protein enteropathy is recognised as a significant cause of persistent diarrhoea and malabsorption in young infants, but there are as yet no generally accepted diagnostic criteria. A combined clinical and histological approach to the diagnosis of cows' milk protein-sensitive enteropathy has been used in 15 patients, and the following set of criteria are proposed. (1) Clinical disease (diarrhoea with or without vomiting) while receiving cows' milk protein. (2) Clinical improvement on a diet free of cows' milk protein. (3) Normal or mildly abnormal histology of jejunal mucosa when taken 6-8 weeks after symptoms subside. (4) Histological relapse, with or without clinical relapse, after re-exposure to cows' milk protein. Images Fig. 1 Fig. 2 PMID:564668

  15. Clinical Findings Leading to the Diagnosis of Sepsis in Neonates Hospitalized in Imam Khomeini and Bu Ali Hospitals, Sari, Iran: 2011-2012

    PubMed Central

    Farhadi, Roya; Yaghobian, Mahbobeh; Saravi, Benyamin Mohseni

    2014-01-01

    Background: One of the important diseases in neonatal period is sepsis. Clinical sign and symptoms in addition to lab tests are the most important way to accurate diagnosis and prevention of mortality. This study was conducted with the aim of determining the most clinical sign and symptoms which leading to diagnosis of sepsis. Materials and Methods: This is a descriptive cross-sectional study. The medical records of patients hospitalized in hospitals of Mazandaran University of Medical Sciences during 2011-2012 were reviewed. Variables were age, sex, birth and admission weight, clinical sign and symptoms, methods of delivery, admission and discharge condition, discharge status, the time elapsed between showing the symptom and admission to hospital, gestational age and the result of cultures. The data were recorded in a checklist and analyzed with SPSS and descriptive statistics. Results: finding showed that 120 patients discharged during period of study with diagnosis of sepsis. Discharged status of 27 (%22/5) were expired. Median age was 1 day with 8 hours SD, length of stay were 12±1 days, gestational age was 34±3 weeks and median birth weight was 2477±977 grams. The median time elapsed between showing the symptom and admission to hospital was 38±31 hours. Blood culture in 10 (%8/3) and urine culture in 8 (%7/6) patients were positive. None of patients have positive lumbar puncture culture. The frequent sign and symptpms in patients were respiratory distress, poor feeding and lethargy. Conclusion: Early diagnosis of neonatal sepsis is not possible only by specific laboratory exams. Clinical sign and symptoms can help us to prediction and diagnosis of neonatal sepsis. Results of this research revealed that it is not clear which one of manifestations was started first or the second because of medical history sheets don’t show this process. PMID:24999128

  16. [The clinical immunology laboratory in diagnosis and monitoring of systemic lupus erythematosus and connective tissue diseases].

    PubMed

    Sinico, R A; Radice, A

    2005-01-01

    The laboratory and particularly clinical immunology laboratories have an essential role in diagnosing and monitoring systemic lupus erythematosus (SLE), as well as other connective tissue diseases. The role of the clinical immunology laboratory in these diseases is to confirm or exclude diagnosis, to monitor disease activity, and to identify subgroup of patients. To obtain the best results in terms of diagnostic performance and clinical usefulness, the following recommendations should be fulfilled: anti-nuclear antibodies (ANA) determination by indirect immunofluorescence on Hep-2 cells is an effective screening assay in patients with clinical features of SLE. A negative ANA test makes the diagnosis of SLE unlikely. Anti-dsDNA antibodies are highly specific for SLE and are associated with renal involvement. The method of choice for anti-dsDNA is the Farr assay; however, the necessity of using radioactive materials reduces its applicability. As an alternative, immunofluorescence on Crithidia Luciliae can be used in the diagnostic phase due to its high specificity. The detection of antibodies to extractable nuclear antigens (ENA) and to phospholipids (lupus anticoagulant and anti-cardiolipin antibodies) is useful in identifying subgroups of patients at risk for some clinical manifestations. Anti-dsDNA measurement with a quantitative assay (the Farr assay or ELISA) is currently the best method to monitor disease activity along with complement levels. New assays (anti-C1q and anti-nucleosome antibodies) have been recently proposed for the diagnosis (anti-nucleosome) and monitoring of SLE patients (anti-C1q and anti-nucleosome antibodies), with promising results.

  17. Rapid diagnostic tests versus clinical diagnosis for managing people with fever in malaria endemic settings

    PubMed Central

    Odaga, John; Sinclair, David; Lokong, Joseph A; Donegan, Sarah; Hopkins, Heidi; Garner, Paul

    2014-01-01

    Background In 2010, the World Health Organization recommended that all patients with suspected malaria are tested for malaria before treatment. In rural African settings light microscopy is often unavailable. Diagnosis has relied on detecting fever, and most people were given antimalarial drugs presumptively. Rapid diagnostic tests (RDTs) provide a point-of-care test that may improve management, particularly of people for whom the RDT excludes the diagnosis of malaria. Objectives To evaluate whether introducing RDTs into algorithms for diagnosing and treating people with fever improves health outcomes, reduces antimalarial prescribing, and is safe, compared to algorithms using clinical diagnosis. Search methods We searched the Cochrane Infectious Disease Group Specialized Register; CENTRAL (The Cochrane Library); MEDLINE; EMBASE; CINAHL; LILACS; and the metaRegister of Controlled Trials for eligible trials up to 10 January 2014. We contacted researchers in the field and reviewed the reference lists of all included trials to identify any additional trials. Selection criteria Individual or cluster randomized trials (RCTs) comparing RDT-supported algorithms and algorithms using clinical diagnosis alone for diagnosing and treating people with fever living in malaria-endemic settings. Data collection and analysis Two authors independently applied the inclusion criteria and extracted data. We combined data from individually and cluster RCTs using the generic inverse variance method. We presented all outcomes as risk ratios (RR) with 95% confidence intervals (CIs), and assessed the quality of evidence using the GRADE approach. Main results We included seven trials, enrolling 17,505 people with fever or reported history of fever in this review; two individually randomized trials and five cluster randomized trials. All trials were conducted in rural African settings. In most trials the health workers diagnosing and treating malaria were nurses or clinical officers with less

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

    NASA Astrophysics Data System (ADS)

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

    2011-03-01

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

  19. The usefulness of clinical-practice-based laboratory data in facilitating the diagnosis of dengue illness.

    PubMed

    Liu, Jien-Wei; Lee, Ing-Kit; Wang, Lin; Chen, Rong-Fu; Yang, Kuender D

    2013-01-01

    Alertness to dengue and making a timely diagnosis is extremely important in the treatment of dengue and containment of dengue epidemics. We evaluated the complementary role of clinical-practice-based laboratory data in facilitating suspicion/diagnosis of dengue. One hundred overall dengue (57 dengue fever [DF] and 43 dengue hemorrhagic fever [DHF]) cases and another 100 nondengue cases (78 viral infections other than dengue, 6 bacterial sepsis, and 16 miscellaneous diseases) were analyzed. We separately compared individual laboratory variables (platelet count [PC] , prothrombin time [PT], activated partial thromboplastin time [APTT], alanine aminotransferase [ALT], and aspartate aminotransferase [AST]) and varied combined variables of DF and/or DHF cases with the corresponding ones of nondengue cases. The sensitivity, specificity, accuracy, positive predictive value (PPV), and negative predictive value (NPV) in the diagnosis of DF and/or DHF were measured based on these laboratory variables. While trade-off between sensitivity and specificity, and/or suboptimal PPV/NPV was found at measurements using these variables, prolonged APTT + normal PT + PC < 100 × 10(9) cells/L had a favorable sensitivity, specificity, PPV, and NPV in diagnosis of DF and/or DHF. In conclusion, these data suggested that prolonged APTT + normal PT + PC < 100 × 10(9) cells/L is useful in evaluating the likelihood of DF and/or DHF.

  20. The Usefulness of Clinical-Practice-Based Laboratory Data in Facilitating the Diagnosis of Dengue Illness

    PubMed Central

    Liu, Jien-Wei; Lee, Ing-Kit; Wang, Lin; Chen, Rong-Fu; Yang, Kuender D.

    2013-01-01

    Alertness to dengue and making a timely diagnosis is extremely important in the treatment of dengue and containment of dengue epidemics. We evaluated the complementary role of clinical-practice-based laboratory data in facilitating suspicion/diagnosis of dengue. One hundred overall dengue (57 dengue fever [DF] and 43 dengue hemorrhagic fever [DHF]) cases and another 100 nondengue cases (78 viral infections other than dengue, 6 bacterial sepsis, and 16 miscellaneous diseases) were analyzed. We separately compared individual laboratory variables (platelet count [PC] , prothrombin time [PT], activated partial thromboplastin time [APTT], alanine aminotransferase [ALT], and aspartate aminotransferase [AST]) and varied combined variables of DF and/or DHF cases with the corresponding ones of nondengue cases. The sensitivity, specificity, accuracy, positive predictive value (PPV), and negative predictive value (NPV) in the diagnosis of DF and/or DHF were measured based on these laboratory variables. While trade-off between sensitivity and specificity, and/or suboptimal PPV/NPV was found at measurements using these variables, prolonged APTT + normal PT + PC < 100 × 109 cells/L had a favorable sensitivity, specificity, PPV, and NPV in diagnosis of DF and/or DHF. In conclusion, these data suggested that prolonged APTT + normal PT + PC < 100 × 109 cells/L is useful in evaluating the likelihood of DF and/or DHF. PMID:24455678

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

    PubMed Central

    Carroll, Karen C.

    2013-01-01

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

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

    PubMed Central

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

    2015-01-01

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

  3. Correlates of Delayed Diagnosis among Human Immunodeficiency Virus-Infected Pulmonary Tuberculosis Suspects in a Rural HIV Clinic, South Africa.

    PubMed

    Boniface, Respicious; Moshabela, Mosa; Zulliger, Rose; Macpherson, Peter; Nyasulu, Peter

    2012-01-01

    Background. Delay in pulmonary tuberculosis (PTB) diagnosis is one of the major factors that affect outcome and threatens continued spread of tuberculosis. This study aimed at determining factors associated with delayed PTB diagnosis among human immunodeficiency virus (HIV) infected individuals. Methods. A retrospective observational study was done using clinic records of HIV-infected PTB suspects attending an HIV/AIDS clinic at Tintswalo rural hospital in South Africa (SA) between January 2006 and December 2007. Using routine clinic registers, 480 records were identified. Results. PTB diagnosis delay was found among 77/176 (43.8%) of the patients diagnosed with PTB. The mean delay of PTB diagnosis was 170.6 days; diagnosis delay ranged 1-30 days in 27 (35.1%) patients, 31-180 days in 24 (33.8%) patients; 24 (31.2%) patients remained undiagnosed for ≥180 days. Independent factors associated with delayed diagnosis were: older age >40 years (Odds Ratio (OR) 3.43, 95% CI 1.45-8.08) and virological failure (OR 2.72, 95% CI 1.09-6.74). Conclusion. There is a considerable delayed PTB diagnosis among HIV-infected patients in rural SA. Older patients as well as patients with high viral load are at a higher risk of PTB diagnosis delay. Therefore efforts to reduce PTB diagnosis delay need to emphasised.

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

    PubMed Central

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

    2016-01-01

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

  5. [Clinical significance of natriuretic peptides in the differential diagnosis of dyspnea].

    PubMed

    Špác, Jiří

    2016-01-01

    Acute dyspnea is one of the most common emergency department symptoms. But early diagnosis and treatment could be e challenging because of multiple potential causes. The gold standard biomarkers in cardiac dyspnea are B-type natriuretic peptide (BNP) and N-terminal pro-B-type (natriuretic peptide NT-pro BNP), which play an important role in the diagnosis, prognosis, and management of acute decompensated heart failure. The purpose of this review is to analyze diagnostic potential of BNP and NT-pro BNP biomarkers use in patients with acute dyspnea. BNP and NT-proBNP are markers of cardiac stress but are not cardiac-specific. They have comparable clinical utility, and both help in excluding acute cardiac dyspnea but they cannot reliably discriminate systolic from diastolic HF.Key word: acute dyspnea - natriuretic peptide - heart failure. PMID:27627091

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

    PubMed Central

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

    2013-01-01

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

  7. A Diagnostic Model for Dementia in Clinical Practice—Case Methodology Assisting Dementia Diagnosis

    PubMed Central

    Londos, Elisabet

    2015-01-01

    Dementia diagnosis is important for many different reasons. Firstly, to separate dementia, or major neurocognitive disorder, from MCI (mild cognitive impairment), mild neurocognitive disorder. Secondly, to define the specific underlying brain disorder to aid treatment, prognosis and decisions regarding care needs and assistance. The diagnostic method of dementias is a puzzle of different data pieces to be fitted together in the best possible way to reach a clinical diagnosis. Using a modified case methodology concept, risk factors affecting cognitive reserve and symptoms constituting the basis of the brain damage hypothesis, can be visualized, balanced and reflected against test results as well as structural and biochemical markers. The model’s origin is the case method initially described in Harvard business school, here modified to serve dementia diagnostics. PMID:26854146

  8. SeDeLo: using semantics and description logics to support aided clinical diagnosis.

    PubMed

    Rodríguez-González, Alejandro; Labra-Gayo, Jose Emilio; Colomo-Palacios, Ricardo; Mayer, Miguel A; Gómez-Berbís, Juan Miguel; García-Crespo, Angel

    2012-08-01

    Automated medical diagnosis systems based on knowledge-oriented descriptions have gained momentum with the emergence of semantic descriptions. The objective of this paper is to propose a normalized design that solves some of the problems which have been detected by authors in previous tools. The authors bring together two different technologies to develop a new clinical decision support system: description logics aimed at developing inference systems to improve decision support for the prevention, treatment and management of illness and semantic technologies. Because of its new design, the system is capable of obtaining improved diagnostics compared with previous efforts. However, this evaluation is more focused in the computational performance, giving as result that description logics is a good solution with small data sets. In this paper, we provide a well-structured ontology for automated diagnosis in the medical field and a three-fold formalization based on Description Logics with the use of Semantic Web technologies.

  9. The clinical presentation and diagnosis of ketamine-associated urinary tract dysfunction in Singapore

    PubMed Central

    Yek, Jacklyn; Sundaram, Palaniappan; Aydin, Hakan; Kuo, Tricia; Ng, Lay Guat

    2015-01-01

    Ketamine is a short-acting anaesthetic agent that has gained popularity as a ‘club drug’ due to its hallucinogenic effects. Substance abuse should be considered in young adult patients who present with severe debilitating symptoms such as lower urinary tract symptoms, even though the use of controlled substances is rare in Singapore. Although the natural history of disease varies from person to person, a relationship between symptom severity and frequency/dosage of abuse has been established. It is important to be aware of this condition and have a high degree of clinical suspicion to enable early diagnosis and immediate initiation of multidisciplinary and holistic treatment. A delayed diagnosis can lead to irreversible pathological changes and increased morbidity among ketamine abusers. PMID:26702160

  10. The clinical presentation and diagnosis of ketamine-associated urinary tract dysfunction in Singapore.

    PubMed

    Yek, Jacklyn; Sundaram, Palaniappan; Aydin, Hakan; Kuo, Tricia; Ng, Lay Guat

    2015-12-01

    Ketamine is a short-acting anaesthetic agent that has gained popularity as a 'club drug' due to its hallucinogenic effects. Substance abuse should be considered in young adult patients who present with severe debilitating symptoms such as lower urinary tract symptoms, even though the use of controlled substances is rare in Singapore. Although the natural history of disease varies from person to person, a relationship between symptom severity and frequency/dosage of abuse has been established. It is important to be aware of this condition and have a high degree of clinical suspicion to enable early diagnosis and immediate initiation of multidisciplinary and holistic treatment. A delayed diagnosis can lead to irreversible pathological changes and increased morbidity among ketamine abusers.

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

    PubMed

    Hackmann, Karl; Rump, Andreas; Haas, Stefan A; Lemke, Johannes R; Fryns, Jean-Pierre; Tzschach, Andreas; Wieczorek, Dagmar; Albrecht, Beate; Kuechler, Alma; Ripperger, Tim; Kobelt, Albrecht; Oexle, Konrad; Tinschert, Sigrid; Schrock, Evelin; Kalscheuer, Vera M; Di Donato, Nataliya

    2016-01-01

    The clinical diagnosis of Lujan-Fryns syndrome (LFS) comprises X-linked intellectual disability (XLID) with marfanoid habitus, distinct combination of minor facial anomalies and nasal speech. However the definition of syndrome was significantly broadened since the original report and implies ID with marfanoid habitus. Mutations of three genes (MED12, UPF3B, and ZDHHC9) have been reported in "broadly defined" LFS. We examined these genes in 28 individuals with a tentative clinical diagnosis of LFS but we did not identify any causative mutation. By molecular karyotyping we detected other disorders, i.e., Phelan-McDermid syndrome and 16p11.2 microduplication, each in one patient. One affected individual was carrier of a different recurrent duplication on 16p11.2 that has been reported several times to the DECIPHER and ISCA databases in individuals with autism, intellectual disability (ID), and developmental delay. It may represent a new duplication syndrome. We also identified previously unreported de novo duplication on chromosome 12p13.31 which we considered to be disease-causing. X-exome sequencing of four individuals revealed private or non-recurrent mutations in NKAP and LAS1L in one patient each. While LFS is defined as a form of XLID, there seem to be various conditions that have rather similar phenotypes. Therefore, the combination of ID and marfanoid habitus in a male patient is not sufficient for the diagnosis of LFS. We suggest that the diagnosis of LFS in patients with ID and marfanoid habitus should be made only in presence of specific facial features, nasal speech and obvious X-linked segregation of the disorder or an unambiguously pathogenic mutation in the MED12. PMID:26358559

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

    PubMed

    Hackmann, Karl; Rump, Andreas; Haas, Stefan A; Lemke, Johannes R; Fryns, Jean-Pierre; Tzschach, Andreas; Wieczorek, Dagmar; Albrecht, Beate; Kuechler, Alma; Ripperger, Tim; Kobelt, Albrecht; Oexle, Konrad; Tinschert, Sigrid; Schrock, Evelin; Kalscheuer, Vera M; Di Donato, Nataliya

    2016-01-01

    The clinical diagnosis of Lujan-Fryns syndrome (LFS) comprises X-linked intellectual disability (XLID) with marfanoid habitus, distinct combination of minor facial anomalies and nasal speech. However the definition of syndrome was significantly broadened since the original report and implies ID with marfanoid habitus. Mutations of three genes (MED12, UPF3B, and ZDHHC9) have been reported in "broadly defined" LFS. We examined these genes in 28 individuals with a tentative clinical diagnosis of LFS but we did not identify any causative mutation. By molecular karyotyping we detected other disorders, i.e., Phelan-McDermid syndrome and 16p11.2 microduplication, each in one patient. One affected individual was carrier of a different recurrent duplication on 16p11.2 that has been reported several times to the DECIPHER and ISCA databases in individuals with autism, intellectual disability (ID), and developmental delay. It may represent a new duplication syndrome. We also identified previously unreported de novo duplication on chromosome 12p13.31 which we considered to be disease-causing. X-exome sequencing of four individuals revealed private or non-recurrent mutations in NKAP and LAS1L in one patient each. While LFS is defined as a form of XLID, there seem to be various conditions that have rather similar phenotypes. Therefore, the combination of ID and marfanoid habitus in a male patient is not sufficient for the diagnosis of LFS. We suggest that the diagnosis of LFS in patients with ID and marfanoid habitus should be made only in presence of specific facial features, nasal speech and obvious X-linked segregation of the disorder or an unambiguously pathogenic mutation in the MED12.

  13. [Functional neuroimaging in the diagnosis of patients with Parkinsonism: Update and recommendations for clinical use].

    PubMed

    Arbizu, J; Luquin, M R; Abella, J; de la Fuente-Fernández, R; Fernandez-Torrón, R; García-Solís, D; Garrastachu, P; Jiménez-Hoyuela, J M; Llaneza, M; Lomeña, F; Lorenzo-Bosquet, C; Martí, M J; Martinez-Castrillo, J C; Mir, P; Mitjavila, M; Ruiz-Martínez, J; Vela, L

    2014-01-01

    Functional Neuroimaging has been traditionally used in research for patients with different Parkinsonian syndromes. However, the emergence of commercial radiotracers together with the availability of single photon emission computed tomography (SPECT) and, more recently, positron emission tomography (PET) have made them available for clinical practice. Particularly, the development of clinical evidence achieved by functional neuroimaging techniques over the past two decades have motivated a progressive inclusion of several biomarkers in the clinical diagnostic criteria for neurodegenerative diseases that occur with Parkinsonism. However, the wide range of radiotracers designed to assess the involvement of different pathways in the neurodegenerative process underlying Parkinsonian syndromes (dopaminergic nigrostriatal pathway integrity, basal ganglia and cortical neuronal activity, myocardial sympathetic innervation), and the different neuroimaging techniques currently available (scintigraphy, SPECT and PET), have generated some controversy concerning the best neuroimaging test that should be indicated for the differential diagnosis of Parkinsonism. In this article, a panel of nuclear medicine and neurology experts has evaluated the functional neuroimaging techniques emphazising practical considerations related to the diagnosis of patients with uncertain origin parkinsonism and the assessment Parkinson's disease progression.

  14. How Missing Information in Diagnosis Can Lead to Disparities in the Clinical Encounter

    PubMed Central

    Alegría, Margarita; Nakash, Ora; Lapatin, Sheri; Oddo, Vanessa; Gao, Shan; Lin, Julia; Normand, Sharon-Lise

    2009-01-01

    Previous studies have documented diagnostic bias and noted that its reduction could eliminate misdiagnosis and improve mental health service delivery. Few studies have investigated clinicians' methods of obtaining and using information during the initial clinical encounter. We describe a study examining contributions to clinician bias during diagnostic assessment of ethnic/racial minority patients. A total of 129 mental health intakes were videotaped, involving 47 mental health clinicians from 8 primarily safety-net clinics. Videos were coded by another clinician using an information checklist, blind to the diagnoses provided by the original clinician. We found high levels of concordance between clinicians for substance-related disorders, low levels for depressive disorders, and anxiety disorders except panic. Most clinicians rely on patients' mention of depression, anxiety, or substance use to identify disorders, without assessing specific criteria. With limited diagnostic information, clinicians can optimize the clinical intake time to establish rapport with patients. We found Latino ethnicity to be a modifying factor of the association between symptom reports and likelihood of a depression diagnosis. Differential discussion of symptom areas, depending on patient ethnicity, may lead to differential diagnosis and increased likelihood of diagnostic bias. PMID:18843234

  15. Botulism in Brazil, 2000-2008: epidemiology, clinical findings and laboratorial diagnosis.

    PubMed

    Rowlands, Ruth Estela Gravato; Ristori, Christiane Asturiano; Lopes, Giselle Ibette S Lopez; Paula, Ana Maria Ramalho de; Sakuma, Harumi; Grigaliunas, Raquel; Lopreato Filho, Roberto; Gelli, Dilma Scala; Eduardo, Maria Bernadete de Paula; Jakabi, Miyoko

    2010-01-01

    Botulism is a rare and potentially lethal illness caused by Clostridium botulinum neurotoxin. We describe the findings of a laboratorial investigation of 117 suspected cases of botulism reported to the surveillance system in Brazil from January 2000 to October 2008. Data on the number and type of samples analyzed, type of toxins identified, reporting of the number of botulism cases and transmission sources are discussed. A total of 193 clinical samples and 81 food samples were analyzed for detection and identification of the botulism neurotoxin. Among the clinical samples, 22 (11.4%) presented the toxin (nine type A, five type AB and eight with an unidentified type); in food samples, eight (9.9%) were positive for the toxin (five type A, one type AB and two with an unidentified type). Of the 38 cases of suspected botulism in Brazil, 27 were confirmed by a mouse bioassay. Laboratorial botulism diagnosis is an important procedure to elucidate cases, especially food-borne botulism, to confirm clinical diagnosis and to identify toxins in food, helping sanitary control measures.

  16. Clinical Applications of Hemolytic Markers in the Differential Diagnosis and Management of Hemolytic Anemia.

    PubMed

    Barcellini, W; Fattizzo, B

    2015-01-01

    Several hemolytic markers are available to guide the differential diagnosis and to monitor treatment of hemolytic conditions. They include increased reticulocytes, an indicator of marrow compensatory response, elevated lactate dehydrogenase, a marker of intravascular hemolysis, reduced haptoglobin, and unconjugated hyperbilirubinemia. The direct antiglobulin test is the cornerstone of autoimmune forms, and blood smear examination is fundamental in the diagnosis of congenital membrane defects and thrombotic microangiopathies. Marked increase of lactate dehydrogenase and hemosiderinuria are typical of intravascular hemolysis, as observed in paroxysmal nocturnal hemoglobinuria, and hyperferritinemia is associated with chronic hemolysis. Prosthetic valve replacement and stenting are also associated with intravascular and chronic hemolysis. Compensatory reticulocytosis may be inadequate/absent in case of marrow involvement, iron/vitamin deficiency, infections, or autoimmune reaction against bone marrow-precursors. Reticulocytopenia occurs in 20-40% of autoimmune hemolytic anemia cases and is a poor prognostic factor. Increased reticulocytes, lactate dehydrogenase, and bilirubin, as well as reduced haptoglobin, are observed in conditions other than hemolysis that may confound the clinical picture. Hemoglobin defines the clinical severity of hemolysis, and thrombocytopenia suggests a possible thrombotic microangiopathy or Evans' syndrome. A comprehensive clinical and laboratory evaluation is advisable for a correct diagnostic and therapeutic workup of the different hemolytic conditions.

  17. Evaluation of the agreement between clinical and laboratorial exams in the diagnosis of leprosy.

    PubMed

    Teixeira, André Costa; Cruvinel, Danilo Lemos; Roma, Fábio Rodrigues de; Luppino, Leandro Ferreira; Resende, Luís Henrique Pereira; Sousa, Theo de; Bührer-Sékula, Samira; Goulart, Isabela Maria Bernardes

    2008-01-01

    This study examined the correlation between the clinical and laboratory diagnosis of leprosy, using biopsy results from laboratories 'A' and 'B' and the ML Flow test. Clinical and histopathological diagnoses presented 67.6% agreement. The laboratories showed 73.7% agreement in the bacterial index and laboratory 'B' detected 25.4% more positives. The highest agreement was in the LL form and lowest, in the I form. The highest diagnostic discrepancy was for the BB form. Clinical diagnosis agreement was 41.3% for laboratory 'A' and 54% for 'B'. The ML Flow test reclassified 10.7% of the patients. The spectrum of leprosy classification is important for a clearer understanding of the disease and its proper treatment, but is not used in health services, which use the simplified WHO criteria. This could be complemented by ML Flow testing. Such simplification is unacceptable for Leprosy Reference Centers regarding patient attendance, teaching and research, for which the standardization of the Ridley-Jopling classification is recommended. PMID:19618076

  18. The diagnosis of premenstrual syndromes and premenstrual dysphoric disorder--clinical procedures and research perspectives.

    PubMed

    Halbreich, U

    2004-12-01

    Premenstrual syndromes (PMS) are quite prevalent among women of reproductive age. In up to 20% of women they are severe enough to warrant treatment, which is available and marketed as such. The impact of the cumulative burden of PMS is substantial and is in the same magnitude as affective disorders. Nevertheless, the definitions and diagnoses of PMS are still fragmented, not widely accepted and, if accepted, not always applied in day-to-day clinical practice. In the present paper, the current diagnostic entities are critically reviewed, problems with the current definitions are delineated and a unified definition is proposed. For clinical purposes, the recommended dinical practical diagnostic process and differential diagnosis are described. For clinical trials of medications for treatment of PMS/premenstrual dysphoric disorder, research diagnostic criteria, inclusion and exclusion criteria, as well as well-defined outcome measures, are of utmost importance; they are described here. The gaps of knowledge in the description and diagnosis of PMS are described, with suggestions for future directions for research. PMID:15724807

  19. [Functional neuroimaging in the diagnosis of patients with Parkinsonism: Update and recommendations for clinical use].

    PubMed

    Arbizu, J; Luquin, M R; Abella, J; de la Fuente-Fernández, R; Fernandez-Torrón, R; García-Solís, D; Garrastachu, P; Jiménez-Hoyuela, J M; Llaneza, M; Lomeña, F; Lorenzo-Bosquet, C; Martí, M J; Martinez-Castrillo, J C; Mir, P; Mitjavila, M; Ruiz-Martínez, J; Vela, L

    2014-01-01

    Functional Neuroimaging has been traditionally used in research for patients with different Parkinsonian syndromes. However, the emergence of commercial radiotracers together with the availability of single photon emission computed tomography (SPECT) and, more recently, positron emission tomography (PET) have made them available for clinical practice. Particularly, the development of clinical evidence achieved by functional neuroimaging techniques over the past two decades have motivated a progressive inclusion of several biomarkers in the clinical diagnostic criteria for neurodegenerative diseases that occur with Parkinsonism. However, the wide range of radiotracers designed to assess the involvement of different pathways in the neurodegenerative process underlying Parkinsonian syndromes (dopaminergic nigrostriatal pathway integrity, basal ganglia and cortical neuronal activity, myocardial sympathetic innervation), and the different neuroimaging techniques currently available (scintigraphy, SPECT and PET), have generated some controversy concerning the best neuroimaging test that should be indicated for the differential diagnosis of Parkinsonism. In this article, a panel of nuclear medicine and neurology experts has evaluated the functional neuroimaging techniques emphazising practical considerations related to the diagnosis of patients with uncertain origin parkinsonism and the assessment Parkinson's disease progression. PMID:24731551

  20. [Analysis of nursing skills in the clinical diagnosis and evaluation setting].

    PubMed

    Pedarribes, Georges; Lefeuvre, Gwenaël

    2014-01-01

    The research work presented in this article concerns reengineering of the registered nurse diploma, particularly definition of Skills group No. 1: evaluate a clinical situation and establish a nursing diagnosis. It was designed to analyse real nursing practices in a typical clinical evaluation and diagnosis setting on admission of a patient to hospital. This analysis essentially focused on the cognitive processes used to organise nursing practices. The theoretical framework of professional training allowed this analysis to be performed on the basis of concepts of skills, schema and operative model. The research protocol focused on self-assessment interviews allowing explanation of the schemas used by a skilled nurse and a trainee nurse on admission of a patient in the day hospital for colonoscopy. An analysis of these schemas and especially the operative model of the skilled nurse demonstrated the organising concepts of effective nursing practice. The results, apart from their heuristic value to provide a better understanding of nursing professional practices, also provide resources to design training in nursing clinical evaluation. PMID:25490222

  1. The role of neuroimaging in the diagnosis of the atypical parkinsonian syndromes in clinical practice.

    PubMed

    Dąbrowska, Magda; Schinwelski, Michał; Sitek, Emilia J; Muraszko-Klaudel, Anna; Brockhuis, Bogna; Jamrozik, Zygmunt; Sławek, Jarosław

    2015-01-01

    Atypical parkinsonian disorders (APD) are a heterogenous group of neurodegenerative diseases such as: progressive supranuclear palsy (PSP), multiple system atrophy (MSA), cortico-basal degeneration (CBD) and dementia with Lewy bodies (DLB). In all of them core symptoms of parkinsonian syndrome are accompanied by many additional clinical features not typical for idiopathic Parkinson's disease (PD) like rapid progression, gaze palsy, apraxia, ataxia, early cognitive decline, dysautonomia and usually poor response to levodopa therapy. In the absence of reliably validated biomarkers the diagnosis is still challenging and mainly based on clinical criteria. However, robust data emerging from routine magnetic resonance imaging (MRI) as well as from many advanced MRI techniques such as: diffusion weighted imaging (DWI) and diffusion tensor imaging (DTI), magnetic resonance spectroscopy (MRS), voxel-based morphometry (VBM), susceptibility-weighted imaging (SWI) may help in differential diagnosis. The main aim of this review is to summarize briefly the most important and acknowledged radiological findings of conventional MRI due to its availability in standard clinical settings. Nevertheless, we present shortly other methods of structural (like TCS - transcranial sonography) and functional imaging (like SPECT - single photon emission computed tomography or PET - positron emission tomography) as well as some selected advanced MRI techniques and their potential future applications in supportive role in distinguishing APD. PMID:26652877

  2. Immunochemical Assays and Nucleic-Acid Detection Techniques for Clinical Diagnosis of Prostate Cancer

    PubMed Central

    Kanyong, Prosper; Rawlinson, Sean; Davis, James

    2016-01-01

    Prostate cancer (PCa) is a significant cause of morbidity and mortality and the most common cancer in men in Europe, North America, and some parts of Africa. The established methods for detecting PCa are normally based on tests using Prostate Specific Antigen (PSA) in blood, Prostate cancer antigen 3 (PCA3) in urine and tissue Alpha-methylacyl-CoA racemase (AMACR) as tumour markers in patient samples. Prior to the introduction of PSA in clinics, prostatic acid phosphatase (PAP) was the most widely used biomarker. An early diagnosis of PCa through the detection of these biomarkers requires the availability of simple, reliable, cost-effective and robust techniques. Immunoassays and nucleic acid detection techniques have experienced unprecedented growth in recent years and seem to be the most promising analytical tools. This growth has been driven in part by the surge in demand for near-patient-testing systems in clinical diagnosis. This article reviews immunochemical assays, and nucleic-acid detection techniques that have been used to clinically diagnose PCa. PMID:26958088

  3. Pulmonary embolism, part I: Epidemiology, risk factors and risk stratification, pathophysiology, clinical presentation, diagnosis and nonthrombotic pulmonary embolism

    PubMed Central

    Bĕlohlávek, Jan; Dytrych, Vladimír; Linhart, Aleš

    2013-01-01

    Pulmonary embolism is an important clinical entity with considerable mortality despite advances in diagnosis and treatment. In the present article, the authors offer a comprehensive review focused mainly on epidemiology, risk factors, risk stratification, pathophysiological considerations and clinical presentation. Diagnosis based on assessment of clinical likelihood, electrocardiography, chest x-ray, D-dimer levels, markers of myocardial injury and overload, and blood gases is discussed in detail. Special attention is devoted to the clinical use of computed tomography, pulmonary angiography and echocardiography in the setting of pulmonary embolism. PMID:23940438

  4. Seasonal performance of a malaria rapid diagnosis test at community health clinics in a malaria-hyperendemic region of Burkina Faso

    PubMed Central

    2012-01-01

    Backgound Treatment of confirmed malaria patients with Artemisinin-based Combination Therapy (ACT) at remote areas is the goal of many anti-malaria programs. Introduction of effective and affordable malaria Rapid Diagnosis Test (RDT) in remote areas could be an alternative tool for malaria case management. This study aimed to assess performance of the OptiMAL dipstick for rapid malaria diagnosis in children under five. Methods Malaria symptomatic and asymptomatic children were recruited in a passive manner in two community clinics (CCs). Malaria diagnosis by microscopy and RDT were performed. Performance of the tests was determined. Results RDT showed similar ability (61.2%) to accurately diagnose malaria as microscopy (61.1%). OptiMAL showed a high level of sensitivity and specificity, compared with microscopy, during both transmission seasons (high & low), with a sensitivity of 92.9% vs. 74.9% and a specificity of 77.2% vs. 87.5%. Conclusion By improving the performance of the test through accurate and continuous quality control of the device in the field, OptiMAL could be suitable for use at CCs for the management and control of malaria. PMID:22647557

  5. Diagnosis and Treatment of Primary Adrenal Insufficiency: An Endocrine Society Clinical Practice Guideline

    PubMed Central

    Bornstein, Stefan R.; Allolio, Bruno; Arlt, Wiebke; Barthel, Andreas; Don-Wauchope, Andrew; Hammer, Gary D.; Husebye, Eystein S.; Merke, Deborah P.; Murad, M. Hassan; Stratakis, Constantine A.; Torpy, David J.

    2016-01-01

    Objective: This clinical practice guideline addresses the diagnosis and treatment of primary adrenal insufficiency. Participants: The Task Force included a chair, selected by The Clinical Guidelines Subcommittee of the Endocrine Society, eight additional clinicians experienced with the disease, a methodologist, and a medical writer. The co-sponsoring associations (European Society of Endocrinology and the American Association for Clinical Chemistry) had participating members. The Task Force received no corporate funding or remuneration in connection with this review. Evidence: This evidence-based guideline was developed using the Grading of Recommendations, Assessment, Development, and Evaluation (GRADE) system to determine the strength of recommendations and the quality of evidence. Consensus Process: The evidence used to formulate recommendations was derived from two commissioned systematic reviews as well as other published systematic reviews and studies identified by the Task Force. The guideline was reviewed and approved sequentially by the Endocrine Society's Clinical Guidelines Subcommittee and Clinical Affairs Core Committee, members responding to a web posting, and the Endocrine Society Council. At each stage, the Task Force incorporated changes in response to written comments. Conclusions: We recommend diagnostic tests for the exclusion of primary adrenal insufficiency in all patients with indicative clinical symptoms or signs. In particular, we suggest a low diagnostic (and therapeutic) threshold in acutely ill patients, as well as in patients with predisposing factors. This is also recommended for pregnant women with unexplained persistent nausea, fatigue, and hypotension. We recommend a short corticotropin test (250 μg) as the “gold standard” diagnostic tool to establish the diagnosis. If a short corticotropin test is not possible in the first instance, we recommend an initial screening procedure comprising the measurement of morning plasma ACTH

  6. Neurocysticercosis in sub-Saharan Africa: a review of prevalence, clinical characteristics, diagnosis, and management

    PubMed Central

    Winkler, Andrea Sylvia

    2012-01-01

    Neurocysticercosis has been recognized as a major cause of secondary epilepsy worldwide. So far, most of the knowledge about the disease comes from Latin America and the Indian subcontinent. Unfortunately, in sub-Saharan Africa the condition was neglected for a long time, mainly owing to the lack of appropriate diagnostic tools. This review therefore focuses on the prevalence of neurocysticercosis in sub-Saharan Africa, the clinical picture with emphasis on epilepsy, as well as the diagnosis and treatment of neurocysticercosis and its related epilepsy/epileptic seizures in African resource-poor settings. PMID:23265550

  7. [Pachydermoperiostosis (Touraine-Solente-Golé syndrome). Clinical and radiological differential diagnosis (author's transl)].

    PubMed

    Lubach, D; Freyschmidt, J; Bolten, D

    1981-02-01

    This report describes a patient with pachydermoperiostosis (Touraine-Solente-Golé-syndrome). This disorder is characterized by clubbing of the terminal phalanges with watchglass-like nails, enlargement of hands and feet, pachydermia and periostotic skeletal changes. The signs of pachydermia are cutis verticis et frontis gyrata, ptosis and increased skin-thickness of the palms of the hand and soles of the feet. Frequently, a hyperhidrosis of the hands and feet can be found. The differential diagnosis of clinical symptoms and changes in the bones is discussed in detail. PMID:7222891

  8. Utility of Quantitative Polymerase Chain Reaction in Leptospirosis Diagnosis: Association of Level of Leptospiremia and Clinical Manifestations in Sri Lanka

    PubMed Central

    Agampodi, Suneth B.; Matthias, Michael A.; Moreno, Angelo C.

    2012-01-01

    (See the Editorial Commentary by Katz, on pages 1256–8.) Background. Quantitative polymerase chain reaction (qPCR), despite cost and logistical challenges, has the potential to provide accurate and timely diagnosis for leptospirosis at the point-of-care in endemic areas. We studied optimal sample types for qPCR, timing of sampling, and clinical manifestations in relation to quantitative leptospiremia. Methods. A new qPCR assay using pathogenic Leptospira-specific 16S ribosomal RNA (rRNA) gene Taqman primers and an optimized temperature stepdown protocol was used to analyze patient blood samples. Serum was compared with whole blood as sample source. Quantitative leptospiremia was compared with clinical manifestations of leptospirosis and outcome. Results. The diagnostic sensitivity of qPCR of whole blood and serum was 18.4% (95% confidence interval [CI]: 9.97%–31.4%) and 51.0% (95% CI: 37.5%–64.4%) respectively. The qPCR on suspected cases confirmed infection in 58 of 381 cases (15.2%). Of these, 6 cases confirmed by nested polymerase chain reaction (PCR) and sequencing were serologically negative using a standard but not regionally optimized microscopic agglutination test panel. The bacterial load in serum/blood ranged from 102 to 106 Leptospira/mL. Median leptospiral load for uncomplicated, renal failure, myocarditis, and multi-organ failure patients were 8616, 11007, 36100, and 15882 Leptospira/mL respectively. The qPCR window of positivity ranged from day 2 to day 15; sensitivity of qPCR was not affected by the length of the interval between the onset of symptoms and sample collection (P = .328). Conclusions. Quantitative PCR shows potential as a valid diagnostic test with a wider window of positivity than previously thought. Quantitative leptospiremia in serum/whole blood samples did not directly correlate with clinical manifestations of outcome in this patient population. PMID:22354922

  9. [Zheng Classification in Chinese Medicine: from Its Integration with Disease Diagnosis to Clinical Effectiveness Assessment and Combinational New Drug Discovery].

    PubMed

    Lv, Ai-ping

    2015-08-01

    As the core of traditional Chinese medicine theory, Zheng (syndrome, or pattern) classification will promote personalized medicine by changing the clinical diagnosis into a more precise mode when integrating Zheng classification with disease diagnosis approaches. The author adopted rheumatoid arthritis (RA) as a disease model, to explore the scientific fundamentals of Zheng classification based on disease diagnosis using systemic biological approaches and evidence-based medicine design, as well as developed novel approaches on the methodology of clinical effectiveness evaluation on Chinese medicine and R&D of combinational drugs design based on Fu Fang (Chinese herbal formula). Some unique research design and methods are herein introduced.

  10. [Zheng Classification in Chinese Medicine: from Its Integration with Disease Diagnosis to Clinical Effectiveness Assessment and Combinational New Drug Discovery].

    PubMed

    Lv, Ai-ping

    2015-08-01

    As the core of traditional Chinese medicine theory, Zheng (syndrome, or pattern) classification will promote personalized medicine by changing the clinical diagnosis into a more precise mode when integrating Zheng classification with disease diagnosis approaches. The author adopted rheumatoid arthritis (RA) as a disease model, to explore the scientific fundamentals of Zheng classification based on disease diagnosis using systemic biological approaches and evidence-based medicine design, as well as developed novel approaches on the methodology of clinical effectiveness evaluation on Chinese medicine and R&D of combinational drugs design based on Fu Fang (Chinese herbal formula). Some unique research design and methods are herein introduced. PMID:26485907

  11. Are general practitioners able to accurately diagnose dementia and identify Alzheimer's disease? A comparison with an outpatient memory clinic.

    PubMed Central

    van Hout, H; Vernooij-Dassen, M; Poels, P; Hoefnagels, W; Grol, R

    2000-01-01

    Since the introduction of agents for the treatment of Alzheimer's disease, and in order to increase understanding of a patient's changed behaviour, it has become particularly important that dementia is both diagnosed at an early stage and differentiated into its subtypes. This study aims to ascertain whether GPs were able to diagnose dementia and identify the type of dementia accurately and confidently. GPs were well able to assess the firmness of their own dementia diagnoses, which supposes that they are able to make appropriate selection for referral. Diagnostic support from a specialised team can particularly contribute to identifying the type of dementia. PMID:10897518

  12. Technology insight: tools for research, diagnosis and clinical assessment of treatment in idiopathic inflammatory myopathies.

    PubMed

    Lundberg, Ingrid E; Alexanderson, Helene

    2007-05-01

    Idiopathic inflammatory myopathies, known collectively as myositis, are chronic diseases that cause disability, mainly from muscle weakness, despite the use of immunosuppressive therapies. An improved outcome requires increased knowledge of the key molecular pathways that cause symptoms in muscles and other organs. Technological advances offer promise for improving our understanding of disease mechanisms, and some tools will be helpful in diagnosis and the assessment of therapeutic success. The application of new tools depends on their validation in longitudinal studies using clinical outcome measures combined with assessments of molecular events in affected organs. Clinical outcome measures and definitions of improvement have been developed and validated through the International Myositis Assessment and Clinical Studies collaboration. Some imaging techniques, such as MRI and magnetic resonance spectroscopy of muscles, and high-resolution CT of lungs, can assess changes in local inflammatory activity, among many other aspects of pathology. Changes in protein and gene expression patterns in repeated biopsies from affected organs (muscle, skin and lungs) provide molecular information and allow increasingly precise disease classifications and therapeutic evaluation, but are to date only research tools. This Review focuses on advances in diagnostic and outcome tools and their roles in clinical practice and clinical research in patients with polymyositis and dermatomyositis.

  13. [Microbiological diagnosis of gas gangrene caused by Clostridium septicum (a clinical case)].

    PubMed

    Men'shikova, E D; Titova, G P; Kartavenko, V I; Sokolov, V A; Shabanov, A K; Men'shikov, D D

    2010-08-01

    Microscopy of gram-stained impression smears is used for the rapid diagnosis of microorganisms in the wound. The shin tissues of patient P. with suspected gas gangrene of lower extremity soft tissues were microscopically found to have gram-positive spore-forming bacteria that were morphologically similar to C. bifermentans that were identified as C. septicum on cultural diagnosis. The pathogenic C. septicum strain spores were likely to be formed in the macroorganism upon exposure of the pathogen to a patient's defense factors and to a package of therapeutic measures. Microbiological data should be used only in combination with clinical and instrumental findings and the results of other laboratory studies when the optimal technology is chosen to treat gas infection. By keeping in mind that there may be clostridial gangrene in the patients and the experience of clinicians and bacteriologists may be insufficient in diagnosing this pathology, it is necessary to strengthen the training of physicians in the diagnosis of this pathology. PMID:20886724

  14. [Microbiological diagnosis of gas gangrene caused by Clostridium septicum (a clinical case)].

    PubMed

    Men'shikova, E D; Titova, G P; Kartavenko, V I; Sokolov, V A; Shabanov, A K; Men'shikov, D D

    2010-08-01

    Microscopy of gram-stained impression smears is used for the rapid diagnosis of microorganisms in the wound. The shin tissues of patient P. with suspected gas gangrene of lower extremity soft tissues were microscopically found to have gram-positive spore-forming bacteria that were morphologically similar to C. bifermentans that were identified as C. septicum on cultural diagnosis. The pathogenic C. septicum strain spores were likely to be formed in the macroorganism upon exposure of the pathogen to a patient's defense factors and to a package of therapeutic measures. Microbiological data should be used only in combination with clinical and instrumental findings and the results of other laboratory studies when the optimal technology is chosen to treat gas infection. By keeping in mind that there may be clostridial gangrene in the patients and the experience of clinicians and bacteriologists may be insufficient in diagnosing this pathology, it is necessary to strengthen the training of physicians in the diagnosis of this pathology.

  15. Clinical diagnosis of late temporal lobe necrosis following radiation therapy for nasopharyngeal carcinoma

    SciTech Connect

    Lee, A.W.; Ng, S.H.; Ho, J.H.; Tse, V.K.; Poon, Y.F.; Tse, C.C.; Au, G.K.; O, S.K.; Lau, W.H.; Foo, W.W.

    1988-04-15

    This is a preliminary report of 102 patients with clinical diagnosis of late temporal lobe necrosis after radical radiation therapy for nasopharyngeal carcinoma during 1964 to 1983. Histologic verification was available in 12 cases. All but three patients had been treated in our institute using schedules with doses larger than the conventional 200 cGy per fraction. The incidence rate was 1.03%. In our 80 patients with only one course of external irradiation, the doses to the temporal lobes ranged from 1665 to 2127 ret, or 1286 to 1778 brain tolerance unit (btu). The latent interval ranged from 9 months to 16 years. The median observation period is 33 months. The symptomatology, working diagnosis, treatment, and outcome are described. Surgery was hazardous because of the bilaterality of the involvement and exploration for mere verification of diagnosis was unjustified in typical cases. Treatment with corticosteroid achieved durable objective response in 25 (35%) of 72 patients. The importance of early detection and corticosteroid treatment is discussed.

  16. NOS2 and CCL27: clinical implications for psoriasis and eczema diagnosis and management.

    PubMed

    Garzorz, Natalie; Eyerich, Kilian

    2015-02-01

    Chronic inflammatory skin diseases such as psoriasis and eczema are a major medical challenge. Development of highly specific therapies for both conditions is opposed by the lack of translation of basic knowledge into biomarkers for clinical use. Furthermore, to distinguish psoriasis from eczema might be difficult occasionally, but specific and costly therapies would not be efficient in misdiagnosed patients. In the era of high-throughput 'omics'-technologies, comparing the molecular signature of psoriasis and eczema is a promising approach to gain insight into their complex pathogeneses and develop new diagnostic and therapeutic strategies. Investigating patients affected by both psoriasis and eczema simultaneously, we recently constructed a disease classifier consisting of only two genes (NOS2 and CCL27) that reliably predicts the correct diagnosis even in clinically unclear cases. When such easy-to-handle approaches are combined with individual therapeutic response, we might reach the ultimate goal of personalized medicine in inflammatory skin diseases in near future.

  17. Clinical Guidelines for the Diagnosis and Treatment of Cushing's Disease in Korea

    PubMed Central

    Hur, Kyu Yeon; Kim, Jung Hee; Kim, Byung Joon; Kim, Min-Seon; Lee, Eun Jig

    2015-01-01

    Cushing's disease (CD) is a rare disorder characterized by the overproduction of adrenocorticotropic hormone due to a pituitary adenoma that ultimately stimulates excessive cortisol secretion from the adrenal glands. Prior to the detection of pituitary adenomas, various clinical signs of CD such as central obesity, moon face, hirsutism, and facial plethora are usually already present. Uncontrolled hypercortisolism is associated with metabolic, cardiovascular, and psychological disorders that result in increased mortality. Hence, the early detection and treatment of CD are not only important but mandatory. Because its clinical manifestations vary from patient to patient and are common in other obesity-related conditions, the precise diagnosis of CD can be problematic. Thus, the present set of guidelines was compiled by Korean experts in this field to assist clinicians with the screening, diagnoses, and treatment of patients with CD using currently available tests and treatment modalities. PMID:25827452

  18. Design and validation of a clinical instrument for spectral diagnosis of cutaneous malignancy.

    PubMed

    Rajaram, Narasimhan; Aramil, Timothy J; Lee, Kelvin; Reichenberg, Jason S; Nguyen, Tri H; Tunnell, James W

    2010-01-10

    We report a probe-based portable and clinically compatible instrument for the spectral diagnosis of melanoma and nonmelanoma skin cancers. The instrument combines two modalities--diffuse reflectance and intrinsic fluorescence spectroscopy--to provide complementary information regarding tissue morphology, function, and biochemical composition. The instrument provides a good signal-to-noise ratio for the collected reflectance and laser-induced fluorescence spectra. Validation experiments on tissue phantoms over a physiologically relevant range of albedos (0.35-0.99) demonstrate an accuracy of close to 10% in determining scattering, absorption and fluorescence characteristics. We also demonstrate the ability of our instrument to collect in vivo diffuse reflectance and fluorescence measurements from clinically normal skin, dysplastic nevus, and malignant nonmelanoma skin cancer. PMID:20062500

  19. Psychiatric polypharmacy: a clinical approach based on etiology and differential diagnosis.

    PubMed

    Freudenreich, Oliver; Kontos, Nicholas; Querques, John

    2012-01-01

    Polypharmacy is common clinical practice in the United States for many psychiatric conditions and for many reasons. In this article we encourage clinicians to use the familiar practice of differential diagnosis to systematically identify etiological factors contributing to polypharmacy. We offer a clinical approach based on (1) reviewing the four main factors responsible for polypharmacy (the disease, the patient, the physician, and society) and (2) answering two questions about optimizing medication regimens (What can I do without explicit permission from the patient or others? What can I do with permission from them?). We contend that all physicians share a professional responsibility for prescribing medications judiciously because unnecessary prescribing exposes patients to unwarranted risks and squanders valuable and scarce resources. Psychiatrists can ask themselves a Kantian question: would my way of prescribing lead to good, socially acceptable outcomes if followed by all physicians treating similar patients? PMID:22512741

  20. Clinical applications of MARSALA for preimplantation genetic diagnosis of spinal muscular atrophy.

    PubMed

    Ren, Yixin; Zhi, Xu; Zhu, Xiaohui; Huang, Jin; Lian, Ying; Li, Rong; Jin, Hongyan; Zhang, Yan; Zhang, Wenxin; Nie, Yanli; Wei, Yuan; Liu, Zhaohui; Song, Donghong; Liu, Ping; Qiao, Jie; Yan, Liying

    2016-09-20

    Conventional PCR methods combined with linkage analysis based on short tandem repeats (STRs) or Karyomapping with single nucleotide polymorphism (SNP) arrays, have been applied to preimplantation genetic diagnosis (PGD) for spinal muscular atrophy (SMA), an autosome recessive disorder. However, it has limitations in SMA diagnosis by Karyomapping, and these methods are unable to distinguish wild-type embryos with carriers effectively. Mutated allele revealed by sequencing with aneuploidy and linkage analyses (MARSALA) is a new method allowing embryo selection by a one-step next-generation sequencing (NGS) procedure, which has been applied in PGD for both autosome dominant and X-linked diseases in our group previously. In this study, we carried out PGD based on MARSALA for two carrier families with SMA affected children. As a result, one of the couples has given birth to a healthy baby free of mutations in SMA-causing gene. It is the first time that MARSALA was applied to PGD for SMA, and we can distinguish the embryos with heterozygous deletion (carriers) from the wild-type (normal) ones accurately through this NGS-based method. In addition, direct mutation detection allows us to identify the affected embryos (homozygous deletion), which can be regarded as probands for linkage analysis, in case that the affected family member is absent. In the future, the NGS-based MARSALA method is expected to be used in PGD for all monogenetic disorders with known pathogenic gene mutation. PMID:27599922

  1. The Clinical Features and Diagnosis of Adrenoleukodystrophy: A Case Series of Iranian Family

    PubMed Central

    KARIMZADEH, Parvaneh; JAFARI, Narjes; NEJAD BIGLARI, Habibe; JABBEHDARI, Sayena; ALIZADEH, Mehdi; ALIZADEH, Ghazal; NEJAD BIGLARI, Hamid; SANII, Sara

    2016-01-01

    Objective Adrenoleukodystrophy disorder is one of the x-linked genetic disorders caused by the myelin sheath breakdown in the brain. In this study, we present 4 yr experience on this disorder. Materials & Methods The patients diagnosed as adrenoleukodystrophy in the Neurology Department of Mofid Children’s Hospital in Tehran, Iran from 2010 to 2014 were enrolled into the study. The disorder was confirmed by neuroimaging and clinical findings along with genetic and neurometabolic assessment at Reference Laboratory in Germany. We assessed age, gender, past medical history, developmental status, clinical manifestations, and neuroimaging findings of populous family with adrenoleukodystrophy. Results All of the patients were one populous family with high rate of consanguineous marriages. This disorder was confirmed by genetic assessment, VLCFA and brain MRI. c.253_254insC, p.R85Pfs112* was found in heterozygote state and the VLCFA assessment showed the typical pattern for adrenoleukodystrophy/ adrenomyeloneuropathy. This diagnosis was in agreement with the family history and the clinical history of the patient. Since there have been a number of cases in patient’s family in the past, so intensive follow-up on the family especially detection the female members of the family of childbearing age was recommended. The amount of C-26, C24/C22 and C26/C22 was elevated. All patients with the same genotype had wide ranges of clinical presentation. Conclusion Early diagnose of this disease might help us for early intervention and prenatal diagnosis for the disease in next siblings. PMID:27057190

  2. Clinical potential of TCF21 methylation in the diagnosis of renal cell carcinoma

    PubMed Central

    Xin, Jun; Xu, Rong; Lin, Shaokun; Xin, Minghua; Cai, Wenjie; Zhou, Jin; Fu, Changde; Zhen, Guangfu; Lai, Jinjin; Li, Yue; Zhang, Pengfeng

    2016-01-01

    The aim of the present study was to investigate the clinical potential of transcription factor (TCF) 21 methylation in the diagnosis of renal cell carcinoma (RCC). TCF21 methylation levels were quantified in renal tissues (55 cases of RCC tissue and 22 cases of normal tissue) and urine samples (33 cases of urine samples with RCC and 15 cases of normal urine samples) using pyrosequencing. Spearman's rank correlation coefficient was used to investigate the correlation between TCF21 methylation levels and clinical parameters (gender, age, smoking history, Fuhrman grade and clinical stage). The receiver operating characteristic (ROC) curve was utilized to evaluate the accuracy of predictive diagnosis of RCC. TCF21 methylation levels were significantly increased in RCC samples compared with normal renal tissues and urine samples. The Spearman's correlation analysis revealed that the TCF21 methylation level was positively associated with age (P=0.002), smoking (P=0.017) and Fuhrman grade (P=0.045) in RCC tissues and was positively associated with tumor size (P<0.001), Fuhrman grade (P=0.017) and clinical stage (P=0.017) in urine samples. ROC curves revealed that the cut-off value, sensitivity and specificity were 23.61, 89.00 and 61.90%, respectively in tissue samples, and 26.84, 79 and 100%, respectively in urine samples. Furthermore, there were significant differences in the area under the curve between the tissue and urine samples (P=0.004). The results of the present study indicate that TCF21 may be used as a biomarker for diagnosing RCC, and TCF21 methylation levels in urine samples may be a useful means of diagnosing RCC. PMID:27446425

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

    SciTech Connect

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

    2008-10-20

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

  4. Laboratory reporting of hemostasis assays: the final post-analytical opportunity to reduce errors of clinical diagnosis in hemostasis?

    PubMed

    Favaloro, Emmanuel J; Lippi, Giuseppe

    2010-03-01

    The advent of modern instrumentation, with associated improvements in test performance and reliability, together with appropriate internal quality control (IQC) and external quality assurance (EQA) measures, has led to substantial reductions in analytical errors within hemostasis laboratories. Unfortunately, the reporting of incorrect or inappropriate test results still occurs, perhaps even as frequently as in the past. Many of these cases arise due to a variety of events largely outside the control of the laboratories performing the tests. These events are primarily preanalytical, related to sample collection and processing, but can also include post-analytical events related to the reporting and interpretation of test results. The current report provides an overview of these events, as well as guidance for prevention or minimization. In particular, we propose several strategies for the post-analytical reporting of hemostasis assays, and how this may provide the final opportunity to prevent serious clinical errors in diagnosis. This report should be of interest to both the laboratory scientists working in hemostasis and clinicians that request and attempt to interpret the test results. Laboratory scientists are ultimately responsible for these test results, and there is a duty to provide both accurate and precise results to enable clinicians to manage patients appropriately and to avoid the need to recollect and retest. Also, clinicians will not be in a position to best diagnose and manage their patient unless they gain an appreciation of these issues.

  5. Miller Fisher Syndrome: A Case Report Highlighting Heterogeneity of Clinical Features and Focused Differential Diagnosis.

    PubMed

    Yepishin, Ilya V; Allison, Randall Z; Kaminskas, David A; Zagorski, Natalia M; Liow, Kore K

    2016-07-01

    Miller Fisher Syndrome (MFS) is a rare variant of Guillain-Barré Syndrome (GBS) that has a geographically variable incidence. It is largely a clinical diagnosis based on the cardinal clinical features of ataxia, areflexia, and opthalmoplegia, however, other neurological signs and symptoms may also be present. Serological confirmation with the anti-GQ1b antibody is available and allows for greater diagnostic certainty in the face of confounding symptoms. A self-limiting course is typical of MFS. The following case report is that of a patient who presented with generalized weakness, somatic pain, inability to walk, and diplopia following an upper respiratory illness. The patient exhibited the classic triad of ataxia, areflexia, and opthalmoplegia characteristic of MFS, but also had less typical signs and symptoms making for a more challenging diagnostic workup. Our suspected diagnosis of MFS was serologically confirmed with positive anti-GQ1b antibody titer and the patient was successfully treated with Intravenous immune globulin (IVIG).

  6. Spontaneous carotid-cavernous fistula: challenges in clinical and radiologic diagnosis.

    PubMed

    Sobin, Lindsay; Jones, Kristin; Tatum, Sherard

    2014-06-01

    We present a 47-year-old female patient with spontaneous carotid-cavernous fistula without comorbidities. The symptoms of a carotid-cavernous fistula may be confused with other pathology in the region of the orbit and cavernous sinus such as cavernous sinus thrombosis. Carotid-cavernous fistulas most commonly result from direct injury to the internal carotid artery, as with skull base or surgical trauma, but it can also result from weakness in the arterial wall, as with an aneurysm. Because of the high flow of the internal carotid artery, carotid-cavernous fistulas typically present with rapidly progressive symptoms. The case study presented demonstrates the usefulness of radiologic studies in distinguishing between these similarly presenting disease processes. Clinically, cavernous sinus thrombosis generally presents bilaterally and carotid-cavernous fistula presents unilaterally; however, there are a number of exceptions in the literature. The use of a variety of radiologic and angiographic studies will help differentiate between these pathologies. On magnetic resonance imaging, both pathologies can appear as an enlargement of cavernous sinus. Magnetic resonance angiography sequence can reveal aneurysms communicating with the cavernous sinus, and magnetic resonance venography will define thrombosis within the cavernous sinus. Differentiating between cavernous sinus thrombosis and carotid-cavernous fistula can be clinically difficult, and a team approach including emergency physicians, neurosurgeons, ophthalmologists, and otolaryngologists will be called upon to assist in diagnosis. Prompt diagnosis and management can allow for potentially vision and lifesaving interventions. PMID:24656959

  7. Diagnosis of breast cancer using elastic-scattering spectroscopy: preliminary clinical results

    NASA Astrophysics Data System (ADS)

    Bigio, Irving J.; Brown, Stephen G.; Briggs, Gavin M.; Kelley, Christine; Lakhani, Sunil; Pickard, David; Ripley, Paul M.; Rose, Ian; Saunders, Christobel

    2000-04-01

    We report on the first stages of a clinical study designed to test elastic-scattering spectroscopy, medicated by fiberoptic probes, for three specific clinical applications in breast-tissue diagnosis: (1) a transdermal-needle (interstitial) measurement for instant diagnosis with minimal invasiveness similar to fine-needle aspiration but with sensitivity to a larger tissue volume, (2) a hand-held diagnostic probe for use in assessing tumor/resection margins during open surgery, and (3) use of the same probe for real-time assessment of the `sentinel' node during surgery to determine the presence or absence of tumor (metastatic). Preliminary results from in vivo measurements on 31 women are encouraging. Optical spectra were measured on 72 histology sites in breast tissue, and 54 histology sites in sentinel nodes. Two different artificial intelligence methods of spectral classification were studied. Artificial neural networks yielded sensitivities of 69% and 58%, and specificities of 85% and 93%, for breast tissue and sentinel nodes, respectively. Hierarchical cluster analysis yielded sensitivities of 67% and 91%, and specificities of 79% and 77%, for breast tissue and sentinel nodes, respectively. These values are expected to improve as the data sets continue to grow and more sophisticated data preprocessing is employed. The study will enroll up to 400 patients over the next two years.

  8. Clinical study of noninvasive in vivo melanoma and nonmelanoma skin cancers using multimodal spectral diagnosis

    PubMed Central

    Lim, Liang; Nichols, Brandon; Migden, Michael R.; Rajaram, Narasimhan; Reichenberg, Jason S.; Markey, Mia K.; Ross, Merrick I.; Tunnell, James W.

    2014-01-01

    Abstract. The goal of this study was to determine the diagnostic capability of a multimodal spectral diagnosis (SD) for in vivo noninvasive disease diagnosis of melanoma and nonmelanoma skin cancers. We acquired reflectance, fluorescence, and Raman spectra from 137 lesions in 76 patients using custom-built optical fiber-based clinical systems. Biopsies of lesions were classified using standard histopathology as malignant melanoma (MM), nonmelanoma pigmented lesion (PL), basal cell carcinoma (BCC), actinic keratosis (AK), and squamous cell carcinoma (SCC). Spectral data were analyzed using principal component analysis. Using multiple diagnostically relevant principal components, we built leave-one-out logistic regression classifiers. Classification results were compared with histopathology of the lesion. Sensitivity/specificity for classifying MM versus PL (12 versus 17 lesions) was 100%/100%, for SCC and BCC versus AK (57 versus 14 lesions) was 95%/71%, and for AK and SCC and BCC versus normal skin (71 versus 71 lesions) was 90%/85%. The best classification for nonmelanoma skin cancers required multiple modalities; however, the best melanoma classification occurred with Raman spectroscopy alone. The high diagnostic accuracy for classifying both melanoma and nonmelanoma skin cancer lesions demonstrates the potential for SD as a clinical diagnostic device. PMID:25375350

  9. Clinical study of noninvasive in vivo melanoma and nonmelanoma skin cancers using multimodal spectral diagnosis.

    PubMed

    Lim, Liang; Nichols, Brandon; Migden, Michael R; Rajaram, Narasimhan; Reichenberg, Jason S; Markey, Mia K; Ross, Merrick I; Tunnell, James W

    2014-01-01

    The goal of this study was to determine the diagnostic capability of a multimodal spectral diagnosis (SD) for in vivo noninvasive disease diagnosis of melanoma and nonmelanoma skin cancers. We acquired reflectance, fluorescence, and Raman spectra from 137 lesions in 76 patients using custom-built optical fiber-based clinical systems. Biopsies of lesions were classified using standard histopathology as malignant melanoma (MM), nonmelanoma pigmented lesion (PL), basal cell carcinoma (BCC), actinic keratosis (AK), and squamous cell carcinoma (SCC). Spectral data were analyzed using principal component analysis. Using multiple diagnostically relevant principal components, we built leave-one-out logistic regression classifiers. Classification results were compared with histopathology of the lesion. Sensitivity/specificity for classifying MM versus PL (12 versus 17 lesions) was 100%/100%, for SCC and BCC versus AK (57 versus 14 lesions) was 95%/71%, and for AK and SCC and BCC versus normal skin (71 versus 71 lesions) was 90%/85%. The best classification for nonmelanoma skin cancers required multiple modalities; however, the best melanoma classification occurred with Raman spectroscopy alone. The high diagnostic accuracy for classifying both melanoma and nonmelanoma skin cancer lesions demonstrates the potential for SD as a clinical diagnostic device. PMID:25375350

  10. Evaluation of Clinical Alvarado Scoring System and CT Criteria in the Diagnosis of Acute Appendicitis

    PubMed Central

    Gunes Tatar, Idil; Yilmaz, Kerim Bora; Sahin, Alpaslan; Aydin, Hasan; Akinci, Melih; Hekimoglu, Baki

    2016-01-01

    Aim. The aim was to evaluate the clinical Alvarado scoring system and computed tomography (CT) criteria for the diagnosis of acute appendicitis. Material and Methods. 117 patients with acute abdominal pain who underwent abdominal CT were enrolled in this retrospective study. Patient demographics, clinical Alvarado scoring, CT images, and pathologic results of the patients were evaluated. Results. 39 of the 53 patients who were operated on had pathologically proven acute appendicitis. CT criteria of appendiceal diameter, presence of periappendiceal inflammation, fluid, appendicolith, and white blood cell (WBC) count were significantly correlated with the inflammation of the appendix. The best cut-off value for appendiceal diameter was 6.5 mm. The correlation between appendiceal diameter and WBC count was 80% (P = 0.01 < 0.05). The correlation between appendiceal diameter and Alvarado score was 78.7% (P = 0.01 < 0.05). Conclusion. Presence of CT criteria of appendiceal diameter above 6.5 mm, periappendiceal inflammation, fluid, and appendicolith should prompt the diagnosis of acute appendicitis. Since patients with acute appendicitis may not always show the typical signs and symptoms, CT is a helpful imaging modality for patients with relatively low Alvarado score and leukocytosis and when physical examination is confusing. PMID:27242926

  11. Magnetocardiograms in clinical medicine: unique information on cardiac ischemia, arrhythmias, and fetal diagnosis.

    PubMed

    Yamada, Satsuki; Yamaguchi, Iwao

    2005-01-01

    Cardiac diseases are the leading cause of death in population. Diagnostic tests to detect cardiac dysfunction at an early stage of the disease are desirable. The major focus has been centered on tests evaluating the perfusion of the heart with imaging techniques or detecting alterations in electrical or mechanical function of the heart. The heart generates magnetic fields that can be detected by body surface mapping utilizing super conducting quantum interference device sensors giving magnetocardiograms (MCGs). The advantages of MCG over traditional electrocardiograms (ECGs) are increased sensitivity to small signals and lack of conductivity in body tissues, presentation of direct component signals and primary currents. This review will highlight the basic principles and recent advantages of MCGs, and the application of MCG in clinical diagnosis, especially in cases whose ECGs are non-diagnostic or not specific, such as detecting baseline shift in ischemic heart disease, noninvasive His potential recording, detection of arrhythmic mechanism defining reentrant circuits vs non reentrant mechanism, diagnosis of fetal arrhythmias and prolongation of QT interval. Areas of future basic and clinical research are also discussed. PMID:15704657

  12. Dengue fever in Brazilian adults and children: assessment of clinical findings and their validity for diagnosis.

    PubMed

    Nunes-Araújo, F R F; Ferreira, M S; Nishioka, S D E A

    2003-06-01

    Although it is well known that the signs and symptoms of dengue fever (DF) may overlap with those of other diseases, few attempts have been made to assess quantitatively their validity in the diagnosis of DF. The clinical data recorded, in the Brazilian town of Uberlândia between 1993 and 1998, on the notification forms from 495 serologically confirmed cases of DF and 650 patients who tested negative for this disease were therefore compared. Fever, headache, myalgia, retro-orbital pain and arthralgia were the most commonly reported symptoms among the confirmed cases (each occurring in at least 92% of the cases), whereas haemorrhagic manifestations (reported in 7% of cases) were uncommon. Although comparisons between the two groups gave risk ratios (RR) very close to 1 for most signs and symptoms, rash [RR=1.86; 95% confidence interval (CI)=1.63-2.13] and petechiae (RR=1.38; CI=1.07-1.79) were more commonly found among the confirmed cases. As the positive and negative predictive values of all of the signs and symptoms investigated were low, diagnosis of DF should not be based solely on clinical grounds.

  13. Miller Fisher Syndrome: A Case Report Highlighting Heterogeneity of Clinical Features and Focused Differential Diagnosis.

    PubMed

    Yepishin, Ilya V; Allison, Randall Z; Kaminskas, David A; Zagorski, Natalia M; Liow, Kore K

    2016-07-01

    Miller Fisher Syndrome (MFS) is a rare variant of Guillain-Barré Syndrome (GBS) that has a geographically variable incidence. It is largely a clinical diagnosis based on the cardinal clinical features of ataxia, areflexia, and opthalmoplegia, however, other neurological signs and symptoms may also be present. Serological confirmation with the anti-GQ1b antibody is available and allows for greater diagnostic certainty in the face of confounding symptoms. A self-limiting course is typical of MFS. The following case report is that of a patient who presented with generalized weakness, somatic pain, inability to walk, and diplopia following an upper respiratory illness. The patient exhibited the classic triad of ataxia, areflexia, and opthalmoplegia characteristic of MFS, but also had less typical signs and symptoms making for a more challenging diagnostic workup. Our suspected diagnosis of MFS was serologically confirmed with positive anti-GQ1b antibody titer and the patient was successfully treated with Intravenous immune globulin (IVIG). PMID:27437164

  14. Clinical study of noninvasive in vivo melanoma and nonmelanoma skin cancers using multimodal spectral diagnosis

    NASA Astrophysics Data System (ADS)

    Lim, Liang; Nichols, Brandon; Migden, Michael R.; Rajaram, Narasimhan; Reichenberg, Jason S.; Markey, Mia K.; Ross, Merrick I.; Tunnell, James W.

    2014-11-01

    The goal of this study was to determine the diagnostic capability of a multimodal spectral diagnosis (SD) for in vivo noninvasive disease diagnosis of melanoma and nonmelanoma skin cancers. We acquired reflectance, fluorescence, and Raman spectra from 137 lesions in 76 patients using custom-built optical fiber-based clinical systems. Biopsies of lesions were classified using standard histopathology as malignant melanoma (MM), nonmelanoma pigmented lesion (PL), basal cell carcinoma (BCC), actinic keratosis (AK), and squamous cell carcinoma (SCC). Spectral data were analyzed using principal component analysis. Using multiple diagnostically relevant principal components, we built leave-one-out logistic regression classifiers. Classification results were compared with histopathology of the lesion. Sensitivity/specificity for classifying MM versus PL (12 versus 17 lesions) was 100%;/100%;, for SCC and BCC versus AK (57 versus 14 lesions) was 95%;/71%, and for AK and SCC and BCC versus normal skin (71 versus 71 lesions) was 90%/85%. The best classification for nonmelanoma skin cancers required multiple modalities; however, the best melanoma classification occurred with Raman spectroscopy alone. The high diagnostic accuracy for classifying both melanoma and nonmelanoma skin cancer lesions demonstrates the potential for SD as a clinical diagnostic device.

  15. Miller Fisher Syndrome: A Case Report Highlighting Heterogeneity of Clinical Features and Focused Differential Diagnosis

    PubMed Central

    Allison, Randall Z; Kaminskas, David A; Zagorski, Natalia M; Liow, Kore K

    2016-01-01

    Miller Fisher Syndrome (MFS) is a rare variant of Guillain-Barré Syndrome (GBS) that has a geographically variable incidence. It is largely a clinical diagnosis based on the cardinal clinical features of ataxia, areflexia, and opthalmoplegia, however, other neurological signs and symptoms may also be present. Serological confirmation with the anti-GQ1b antibody is available and allows for greater diagnostic certainty in the face of confounding symptoms. A self-limiting course is typical of MFS. The following case report is that of a patient who presented with generalized weakness, somatic pain, inability to walk, and diplopia following an upper respiratory illness. The patient exhibited the classic triad of ataxia, areflexia, and opthalmoplegia characteristic of MFS, but also had less typical signs and symptoms making for a more challenging diagnostic workup. Our suspected diagnosis of MFS was serologically confirmed with positive anti-GQ1b antibody titer and the patient was successfully treated with Intravenous immune globulin (IVIG). PMID:27437164

  16. Oral Lichen Planus: An Update on Etiology, Pathogenesis, Clinical Presentation, Diagnosis and Management

    PubMed Central

    Gupta, Sonia; Jawanda, Manveen Kaur

    2015-01-01

    The mouth is a mirror of health or disease, a sentinel or early warning system. The oral cavity might well be thought as a window to the body because oral manifestations accompany many systemic diseases. In many instances, oral involvement precedes the appearance of other symptoms or lesions at other locations. Oral lichen planus (OLP) is a chronic mucocutaneous disorder of stratified squamous epithelium of uncertain etiology that affects oral and genital mucous membranes, skin, nails, and scalp. LP is estimated to affect 0.5% to 2.0% of the general population. This disease has most often been reported in middle-aged patients with 30-60 years of age and is more common in females than in males. The disease seems to be mediated by an antigen-specific mechanism, activating cytotoxic T cells, and non-specific mechanisms like mast cell degranulation and matrix metalloproteinase activation. A proper understanding of the pathogenesis, clinical presentation, diagnosis of the disease becomes important for providing the right treatment. This article discusses the prevalence, etiology, clinical features, oral manifestations, diagnosis, complications and treatment of oral LP. PMID:26120146

  17. Clinical Use of Next-Generation Sequencing in the Diagnosis of Wilson's Disease.

    PubMed

    Németh, Dániel; Árvai, Kristóf; Horváth, Péter; Kósa, János Pál; Tobiás, Bálint; Balla, Bernadett; Folhoffer, Anikó; Krolopp, Anna; Lakatos, Péter András; Szalay, Ferenc

    2016-01-01

    Objective. Wilson's disease is a disorder of copper metabolism which is fatal without treatment. The great number of disease-causing ATP7B gene mutations and the variable clinical presentation of WD may cause a real diagnostic challenge. The emergence of next-generation sequencing provides a time-saving, cost-effective method for full sequencing of the whole ATP7B gene compared to the traditional Sanger sequencing. This is the first report on the clinical use of NGS to examine ATP7B gene. Materials and Methods. We used Ion Torrent Personal Genome Machine in four heterozygous patients for the identification of the other mutations and also in two patients with no known mutation. One patient with acute on chronic liver failure was a candidate for acute liver transplantation. The results were validated by Sanger sequencing. Results. In each case, the diagnosis of Wilson's disease was confirmed by identifying the mutations in both alleles within 48 hours. One novel mutation (p.Ala1270Ile) was found beyond the eight other known ones. The rapid detection of the mutations made possible the prompt diagnosis of WD in a patient with acute liver failure. Conclusions. According to our results we found next-generation sequencing a very useful, reliable, time-saving, and cost-effective method for diagnosing Wilson's disease in selected cases.

  18. Clinical Use of Next-Generation Sequencing in the Diagnosis of Wilson's Disease.

    PubMed

    Németh, Dániel; Árvai, Kristóf; Horváth, Péter; Kósa, János Pál; Tobiás, Bálint; Balla, Bernadett; Folhoffer, Anikó; Krolopp, Anna; Lakatos, Péter András; Szalay, Ferenc

    2016-01-01

    Objective. Wilson's disease is a disorder of copper metabolism which is fatal without treatment. The great number of disease-causing ATP7B gene mutations and the variable clinical presentation of WD may cause a real diagnostic challenge. The emergence of next-generation sequencing provides a time-saving, cost-effective method for full sequencing of the whole ATP7B gene compared to the traditional Sanger sequencing. This is the first report on the clinical use of NGS to examine ATP7B gene. Materials and Methods. We used Ion Torrent Personal Genome Machine in four heterozygous patients for the identification of the other mutations and also in two patients with no known mutation. One patient with acute on chronic liver failure was a candidate for acute liver transplantation. The results were validated by Sanger sequencing. Results. In each case, the diagnosis of Wilson's disease was confirmed by identifying the mutations in both alleles within 48 hours. One novel mutation (p.Ala1270Ile) was found beyond the eight other known ones. The rapid detection of the mutations made possible the prompt diagnosis of WD in a patient with acute liver failure. Conclusions. According to our results we found next-generation sequencing a very useful, reliable, time-saving, and cost-effective method for diagnosing Wilson's disease in selected cases. PMID:26819605

  19. Standardized serum GM-CSF autoantibody testing for the routine clinical diagnosis of autoimmune pulmonary alveolar proteinosis.

    PubMed

    Uchida, Kanji; Nakata, Koh; Carey, Brenna; Chalk, Claudia; Suzuki, Takuji; Sakagami, Takuro; Koch, Diana E; Stevens, Carrie; Inoue, Yoshikazu; Yamada, Yoshitsugu; Trapnell, Bruce C

    2014-01-15

    Autoantibodies against granulocyte/macrophage colony-stimulating factor (GMAbs) cause autoimmune pulmonary alveolar proteinosis (PAP) and measurement of the GMAb level in serum is now commonly used to identify this disease, albeit, in a clinical research setting. The present study was undertaken to optimize and standardize serum GMAb concentration testing using a GMAb enzyme-linked immunosorbent assay (GMAb ELISA) to prepare for its introduction into routine clinical use. The GMAb ELISA was evaluated using serum specimens from autoimmune PAP patients, healthy people, and GMAb-spiked serum from healthy people. After optimizing assay components and procedures, its accuracy, precision, reliability, sensitivity, specificity, and ruggedness were evaluated. The coefficient of variation in repeated measurements was acceptable (<15%) for well-to-well, plate-to-plate, day-to-day, and inter-operator variation, and was not affected by repeated freeze-thaw cycles of serum specimens or the reference standards, or by storage of serum samples at -80°C. The lower limit of quantification (LLOQ) of the PAP patient-derived polyclonal GMAb reference standard (PCRS) was 0.78ng/ml. Receiver operating characteristic curve analysis identified a serum GMAb level of 5μg/ml (based on PCRS) as the optimal cut off value for distinguishing autoimmune PAP serum from normal serum. A pharmaceutical-grade, monoclonal GMAb reference standard (MCRS) was developed as the basis of a new unit of measure for GMAb concentration: one International Unit (IU) of GMAb is equivalent to 1μg/ml of MCRS. The median [interquartile range] serum GMAb level was markedly higher in autoimmune PAP patients than in healthy people (21.54 [12.83-36.38] versus 0.08 [0.05-0.14] IU; n=56, 38; respectively; P<0.0001). Results demonstrate that serum GMAb measurement using the GMAb ELISA was accurate, precise, reliable, had an acceptable LLOQ, and could be accurately expressed in standardized units. These findings support the

  20. A Practical Clinical Approach to Diagnosis of Fetal Alcohol Spectrum Disorders: Clarification of the 1996 Institute of Medicine Criteria

    PubMed Central

    Eugene Hoyme, H.; May, Philip A.; Kalberg, Wendy O.; Kodituwakku, Piyadasa; Phillip Gossage, J.; Trujillo, Phyllis M.; Buckley, David G.; Miller, Joseph H.; Aragon, Alfredo S.; Khaole, Nathaniel; Viljoen, Denis L.; Jones, Kenneth Lyons; Robinson, Luther K.

    2006-01-01

    Background. The adverse effects of alcohol on the developing human represent a spectrum of structural anomalies and behavioral and neurocognitive disabilities, most accurately termed fetal alcohol spectrum disorders (FASD). The first descriptions in the modern medical literature of a distinctly recognizable pattern of malformations associated with maternal alcohol abuse were reported in 1968 and 1973. Since that time, substantial progress has been made in developing specific criteria for defining and diagnosing this condition. Two sets of diagnostic criteria are now used most widely for evaluation of children with potential diagnoses in the FASD continuum, ie, the 1996 Institute of Medicine (IOM) criteria and the Washington criteria. Although both approaches have improved the clinical delineation of FASD, both suffer from significant drawbacks in their practical application in pediatric practice. Objective. The purpose of this report is to present specific clarifications of the 1996 IOM criteria for the diagnosis of FASD, to facilitate their practical application in clinical pediatric practice. Methods. A large cohort of children who were prenatally exposed to alcohol were identified, through active case-ascertainment methods, in 6 Native American communities in the United States and 1 community in the Western Cape Province of South Africa. The children and their families underwent standardized multidisciplinary evaluations, including a dysmorphology examination, developmental and neuropsychologic testing, and a structured maternal interview, which gathered data about prenatal drinking practices and other demographic and family information. Data for these subjects were analyzed, and revisions and clarifications of the existing IOM FASD diagnostic categories were formulated on the basis of the results. Results. The revised IOM method defined accurately and completely the spectrum of disabilities among the children in our study. On the basis of this experience, we

  1. Health-related quality of life in patients with dual diagnosis: clinical correlates

    PubMed Central

    2012-01-01

    Background Although the studies published so far have found an affectation in the Health Related Quality of Life (HRQOL) in both psychiatric and substance use dependence disorders, very few studies have applied HRQOL as an assessment measure in patients suffering both comorbid conditions, or Dual Diagnosis. The aim of the current study was to assess HRQOL in a group of patients with Dual Diagnosis compared to two other non-comorbid groups and to determine what clinical factors are related to HRQOL. Methods Cross-sectional assessment of three experimental groups was made through the Short Form – 36 Item Health Survey (SF-36). The sample consisted of a group with Dual Diagnosis (DD; N = 35), one with Severe Mental Illness alone (SMI; N = 35) and another one with Substance Use Dependence alone (SUD; N = 35). The sample was composed only by males. To assess the clinical correlates of SF-36 HRQOL, lineal regression analyses were carried out. Results The DD group showed lower scores in most of the subscales, and in the mental health domain. The group with SUD showed in general a better state in the HRQOL while the group with SMI held an intermediate position with respect to the other two groups. Daily medication, suicidal attempts and daily number of coffees were significantly associated to HRQOL, especially in the DD group. Conclusions The DD group showed lower self-reported mental health quality of life. Assessment of HRQOL in dual patients allows to identify specific needs in this population, and may help to establish therapeutic goals to improve interventions. PMID:22950596

  2. Clinical cancer diagnosis using optical fiber-delivered coherent anti-stokes ramon scattering microscopy

    NASA Astrophysics Data System (ADS)

    Gao, Liang

    This thesis describes the development of a combined label-free imaging and analytical strategy for intraoperative characterization of cancer lesions using the coherent anti-Stokes Raman scattering imaging (CARS) technique. A cell morphology-based analytical platform is developed to characterize CARS images and, hence, provide diagnostic information using disease-related pathology features. This strategy is validated for three different applications, including margin detection for radical prostatectomy, differential diagnosis of lung cancer, as well as detection and differentiation of breast cancer subtypes for in situ analysis of margin status during lumpectomy. As the major contribution of this thesis, the developed analytical strategy shows high accuracy and specificity for all three diseases and thus has introduced the CARS imaging technique into the field of human cancer diagnosis, which holds substantial potential for clinical translations. In addition, I have contributed a project aimed at miniaturizing the CARS imaging device into a microendoscope setup through a fiber-delivery strategy. A four-wave-mixing (FWM) background signal, which is caused by simultaneous delivery of the two CARS-generating excitation laser beams, is initially identified. A polarization-based strategy is then introduced and tested for suppression of this FWM noise. The approach shows effective suppression of the FWM signal, both on microscopic and prototype endoscopic setups, indicating the potential of developing a novel microendoscope with a compatible size for clinical use. These positive results show promise for the development of an all-fiber-based, label-free imaging and analytical platform for minimally invasive detection and diagnosis of cancers during surgery or surgical-biopsy, thus improving surgical outcomes and reducing patients' suffering.

  3. Ultrasound imaging as the basis of a clinical diagnosis of systemic bartonellosis in a patient after bone marrow transplantation. A case report

    PubMed Central

    Goździk, Jolanta; Woźniak, Magdalena; Czogała, Wojciech

    2016-01-01

    Infections in immunocompromised patients after hematopoietic stem cell transplantation can have a severe and atypical course. Some opportunistic pathogens are difficult to detect in microbiological tests, and that is why treatment success depends on an accurate clinical diagnosis. This article presents a case of a 7-year-old girl with severe aplastic anemia treated with bone marrow transplantation with post-transplantation period complicated by persistent, hectic fever, with peak episodes of 39–40°C, lasting several weeks. Repeated microbiological tests failed to reveal the etiological agent, and empirical anti-infective treatment was ineffective. In the fourth week of fever, imaging showed multiple foci resembling abscesses in the patient's internal organs and, subsequently, in soft tissues. The characteristics of these changes and data concerning environmental exposure led to the clinical diagnosis of cat scratch disease (bartonellosis) with multi-organ involvement and enabled the targeted treatment to be implemented. Fever subsided and organ lesions regressed. In this case, repeated ultrasound imaging was the basic diagnostic tool that helped arrive at a correct diagnosis and implement effective treatment of this life-threatening complication after hematopoietic stem cell transplantation. PMID:27446604

  4. Clinical Application of Esophageal High-resolution Manometry in the Diagnosis of Esophageal Motility Disorders

    PubMed Central

    van Hoeij, Froukje B; Bredenoord, Albert J

    2016-01-01

    Esophageal high-resolution manometry (HRM) is replacing conventional manometry in the clinical evaluation of patients with esophageal symptoms, especially dysphagia. The introduction of HRM gave rise to new objective metrics and recognizable patterns of esophageal motor function, requiring a new classification scheme: the Chicago classification. HRM measurements are more detailed and more easily performed compared to conventional manometry. The visual presentation of acquired data improved the analysis and interpretation of esophageal motor function. This led to a more sensitive, accurate, and objective analysis of esophageal motility. In this review we discuss how HRM changed the way we define and categorize esophageal motility disorders. Moreover, we discuss the clinical applications of HRM for each esophageal motility disorder separately. PMID:26631942

  5. [Clinical findings and differential diagnosis in ketosis and hypocalcemia in sheep].

    PubMed

    Bickhardt, K; Henze, P; Ganter, M

    1998-11-01

    Clinical and laboratory examinations were carried out in a prospective study from 1978 to 1998 on 454 spontaneously diseased sheep of different breeds aged 2-8 years. Three groups of sheep were defined by plasma concentrations of 3-hydroxybutyrate (3-OHB) and calcium. 214 ewes suffered from ketosis (pregnancy toxaemia, 3-OHB > 1.6 mmol/l), 195 ewes and 5 rams suffered from hypocalcaemia (Ca < 2.0 mmol/l), and 40 ewes were sick with booth diseases simultaneously. Clinical findings differ only slightly in all three groups. In ketosis the time until the onset of clinical signs and the duration of the disease is somewhat longer, while locomotion disturbances are less severe than in hypocalcaemia and in the combination of both. In individual cases a differential diagnosis is not possible on the basis of clinical findings, and also acetonuria is not a reliable criterion. Therefore, a therapy is suggested to treat all three possible forms of disease: daily oral application of Na-propionate, Ca-lactate and K-chloride, and additional subcutanous injection of Ca-borogluconate, vitamin D3, alpha-Tocopherol and selenium at the beginning of the disease. Pathogenesis of both diseases are discussed, recommendations for feeding management are given.

  6. Genital ulcers: etiology, clinical diagnosis, and associated human immunodeficiency virus infection in Kingston, Jamaica.

    PubMed

    Behets, F M; Brathwaite, A R; Hylton-Kong, T; Chen, C Y; Hoffman, I; Weiss, J B; Morse, S A; Dallabetta, G; Cohen, M S; Figueroa, J P

    1999-05-01

    Individuals presenting consecutively with genital ulcers in Kingston, Jamaica, underwent serological testing for human immunodeficiency virus (HIV) infection, chlamydial infection, and syphilis. Ulcer material was analyzed by multiplex polymerase chain reaction (M-PCR) analysis. DNA from herpes simplex virus (HSV), Haemophilus ducreyi, and Treponema pallidum was detected in 158 (52.0%), 72 (23.7%), and 31 (10.2%) of 304 ulcer specimens. Of the 304 subjects, 67 (22%) were HIV-seropositive and 64 (21%) were T. pallidum-seroreactive. Granuloma inguinale was clinically diagnosed in nine (13.4%) of 67 ulcers negative by M-PCR analysis and in 12 (5.1%) of 237 ulcers positive by M-PCR analysis (P = .03). Lymphogranuloma venereum was clinically diagnosed in eight patients. Compared with M-PCR analysis, the sensitivity and specificity of a clinical diagnosis of syphilis, herpes, and chancroid were 67.7%, 53.8%, and 75% and 91.2%, 83.6%, and 75.4%, respectively. Reactive syphilis serology was 74% sensitive and 85% specific compared with M-PCR analysis. Reported contact with a prostitute in the preceding 3 months was associated with chancroid (P = .009), reactive syphilis serology (P = .011), and HIV infection (P = .007). The relatively poor accuracy of clinical and locally available laboratory diagnoses pleads for syndromic management of genital ulcers in Jamaica. Prevention efforts should be intensified.

  7. Nursing Diagnosis Risk for falls: prevalence and clinical profile of hospitalized patients1

    PubMed Central

    Luzia, Melissa de Freitas; Victor, Marco Antonio de Goes; Lucena, Amália de Fátima

    2014-01-01

    Objectives to identify the prevalence of the Nursing Diagnosis (ND) Risk for falls in the hospitalizations of adult patients in clinical and surgical units, to characterize the clinical profile and to identify the risk factors of the patients with this ND. Method a cross-sectional study with 174 patients. The data was collected from the computerized nursing care prescriptions system and on-line hospital records, and analyzed statistically. Results the prevalence of the ND Risk for falls was 4%. The patients' profile indicated older adults, males (57%), those hospitalized in the clinical units (63.2%), with a median length of hospitalization of 20 (10-24) days, with neurological illnesses (26%), cardio-vascular illnesses (74.1%) and various co-morbidities (3±1.8). The prevalent risk factors were neurological alterations (43.1%), impaired mobility (35.6%) and extremes of age (10.3%). Conclusion the findings contributed to evidencing the profile of the patients with a risk of falling hospitalized in clinical and surgical wards, which favors the planning of interventions for preventing this adverse event. PMID:26107834

  8. Angiogenesis-Related Biomarkers (sFlt-1/PLGF) in the Prediction and Diagnosis of Placental Dysfunction: An Approach for Clinical Integration

    PubMed Central

    Herraiz, Ignacio; Simón, Elisa; Gómez-Arriaga, Paula Isabel; Martínez-Moratalla, José Manuel; García-Burguillo, Antonio; López Jiménez, Elena Ana; Galindo, Alberto

    2015-01-01

    Placental dysfunction is involved in a group of obstetrical conditions including preeclampsia, intrauterine growth restriction, and placental abruption. Their timely and accurate recognition is often a challenge since diagnostic criteria are still based on nonspecific signs and symptoms. The discovering of the role of angiogenic-related factors (sFlt-1/PlGF) in the underlying pathophysiology of placental dysfunction, taking into account that angiogenesis-related biomarkers are not specific to any particular placental insufficiency-related disease, has marked an important step for improving their early diagnosis and prognosis assessment. However, sFlt-1/PlGF has not been yet established as a part of most guidelines. We will review the current evidence on the clinical utility of sFlt-1/PlGF and propose a new protocol for its clinical integration. PMID:26287164

  9. 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.

  10. Manipulation therapy prior to diagnosis induced primary osteosarcoma metastasis--from clinical to basic research.

    PubMed

    Wang, Jir-You; Wu, Po-Kuei; Chen, Paul Chih-Hsueh; Yen, Chuen-Chuan; Hung, Giun-Yi; Chen, Cheng-Fong; Hung, Shih-Chieh; Tsai, Shih-Fen; Liu, Chien-Lin; Chen, Tain-Hsiung; Chen, Wei-Ming

    2014-01-01

    Osteosarcoma (OS) patients who suffer manipulation therapy (MT) prior to diagnosis resulted in poor prognosis with increasing metastasis or recurrence rate. The aim of the study is to establish an in vivo model to identify the effects of MT on OS. The enrolled 235 OS patients were followed up in this study. In vivo nude mice model with tibia injection of GFP-labeled human OS cells were randomly allocated into MT(+) that with repeated massage on tumor site twice a week and no treatment as MT(-) group. The five-year survival, metastasis and recurrence rates were recorded in clinical subjects. X-ray plainfilm, micro-PET/CT scan, histopathology, serum metalloproteinase 2 (MMP2), metalloproteinase 9 (MMP9) level and human kinase domain insert receptor (KDR) pattern were assayed in mice model. The results showed that patient with MT decreased 5-year survival and higher recurrence or metastasis rate. Compatible with clinical findings, the decreased body weight (30.5 ± 0.65 g) and an increased tumor volume (8.3 ± 1.18 mm3) in MT(+) mice were observed. The increasing signal intensity over lymph node region of hind limb by micro-PET/CT and the tumor cells were detected in lung and bilateral lymph nodes only in MT(+) group. MMP2 (214 ± 9.8 ng/ml) and MMP9 (25.5 ± 1.81 ng/ml) were higher in MT(+) group than in MT(-) group (165 ± 7.8 ng/ml and 16.9 ± 1.40 ng/ml, individually) as well as KDR expression. Taking clinical observations and in vivo evidence together, MT treatment leads to poor prognosis of primary osteosarcoma; physicians should pay more attention on patients who seek MT before diagnosis.

  11. Manipulation therapy prior to diagnosis induced primary osteosarcoma metastasis--from clinical to basic research.

    PubMed

    Wang, Jir-You; Wu, Po-Kuei; Chen, Paul Chih-Hsueh; Yen, Chuen-Chuan; Hung, Giun-Yi; Chen, Cheng-Fong; Hung, Shih-Chieh; Tsai, Shih-Fen; Liu, Chien-Lin; Chen, Tain-Hsiung; Chen, Wei-Ming

    2014-01-01

    Osteosarcoma (OS) patients who suffer manipulation therapy (MT) prior to diagnosis resulted in poor prognosis with increasing metastasis or recurrence rate. The aim of the study is to establish an in vivo model to identify the effects of MT on OS. The enrolled 235 OS patients were followed up in this study. In vivo nude mice model with tibia injection of GFP-labeled human OS cells were randomly allocated into MT(+) that with repeated massage on tumor site twice a week and no treatment as MT(-) group. The five-year survival, metastasis and recurrence rates were recorded in clinical subjects. X-ray plainfilm, micro-PET/CT scan, histopathology, serum metalloproteinase 2 (MMP2), metalloproteinase 9 (MMP9) level and human kinase domain insert receptor (KDR) pattern were assayed in mice model. The results showed that patient with MT decreased 5-year survival and higher recurrence or metastasis rate. Compatible with clinical findings, the decreased body weight (30.5 ± 0.65 g) and an increased tumor volume (8.3 ± 1.18 mm3) in MT(+) mice were observed. The increasing signal intensity over lymph node region of hind limb by micro-PET/CT and the tumor cells were detected in lung and bilateral lymph nodes only in MT(+) group. MMP2 (214 ± 9.8 ng/ml) and MMP9 (25.5 ± 1.81 ng/ml) were higher in MT(+) group than in MT(-) group (165 ± 7.8 ng/ml and 16.9 ± 1.40 ng/ml, individually) as well as KDR expression. Taking clinical observations and in vivo evidence together, MT treatment leads to poor prognosis of primary osteosarcoma; physicians should pay more attention on patients who seek MT before diagnosis. PMID:24804772

  12. Correlation of quality of life with clinical symptoms and signs at the time of glaucoma diagnosis.

    PubMed Central

    Mills, R P

    1998-01-01

    PURPOSE: To examine the relationship between clinical measures of visual function and patient-reported measures of symptoms and health status in a large cohort of glaucoma patients at the time of diagnosis. SUBJECTS AND METHODS: The 607 patients in the Collaborative Initial Glaucoma Treatment Study (CIGTS) received standardized examinations of visual acuity and visual field at enrollment. In addition, they completed a health-related quality-of-life instrument, which included the Visual Activities Questionnaire (VAQ), Sickness Impact Profile (SIP), a symptom and a comorbidity chart, a question about their degree of worry about becoming blind, and many other items. RESULTS: The SIP total and dimension scores correlated only weakly, and not significantly, with visual acuity and visual field measures. The VAQ total and subscale scores, particularly the peripheral vision subscale, correlated weakly and significantly with visual acuity and visual field scores, especially those from the better eye. Worry about blindness and symptoms attributed to glaucoma correlated weakly but significantly to visual field scores from the worse eye. Attempts to improve correlations by scoring the visual fields differently, including only paracentral and pericentral test locations in the scores, and simulating binocular visual field scores were largely unsuccessful. CONCLUSIONS: At diagnosis, most patients were relatively free of glaucoma-induced impairments, so clinical measures were poor predictors of a patient's perception of health-related quality of life. The vision-specific VAQ and glaucoma-related symptom score correlated better than the generic SIP with clinical measures at the time of enrollment into CIGTS. PMID:10360308

  13. Diagnosis of paediatric HIV infection in a primary health care setting with a clinical algorithm.

    PubMed Central

    Horwood, C.; Liebeschuetz, S.; Blaauw, D.; Cassol, S.; Qazi, S.

    2003-01-01

    OBJECTIVE: To determine the validity of an algorithm used by primary care health workers to identify children with symptomatic human immunodeficiency virus (HIV) infection. This HIV algorithm is being implemented in South Africa as part of the Integrated Management of Childhood Illness (IMCI), a strategy that aims to improve childhood morbidity and mortality by improving care at the primary care level. As AIDS is a leading cause of death in children in southern Africa, diagnosis and management of symptomatic HIV infection was added to the existing IMCI algorithm. METHODS: In total, 690 children who attended the outpatients department in a district hospital in South Africa were assessed with the HIV algorithm and by a paediatrician. All children were then tested for HIV viral load. The validity of the algorithm in detecting symptomatic HIV was compared with clinical diagnosis by a paediatrician and the result of an HIV test. Detailed clinical data were used to improve the algorithm. FINDINGS: Overall, 198 (28.7%) enrolled children were infected with HIV. The paediatrician correctly identified 142 (71.7%) children infected with HIV, whereas the IMCI/HIV algorithm identified 111 (56.1%). Odds ratios were calculated to identify predictors of HIV infection and used to develop an improved HIV algorithm that is 67.2% sensitive and 81.5% specific in clinically detecting HIV infection. CONCLUSIONS: Children with symptomatic HIV infection can be identified effectively by primary level health workers through the use of an algorithm. The improved HIV algorithm developed in this study could be used by countries with high prevalences of HIV to enable IMCI practitioners to identify and care for HIV-infected children. PMID:14997238

  14. Relevance of nucleic acid amplification techniques for diagnosis of respiratory tract infections in the clinical laboratory.

    PubMed Central

    Ieven, M; Goossens, H

    1997-01-01

    Clinical laboratories are increasingly receiving requests to perform nucleic acid amplification tests for the detection of a wide variety of infectious agents. In this paper, the efficiency of nucleic acid amplification techniques for the diagnosis of respiratory tract infections is reviewed. In general, these techniques should be applied only for the detection of microorganisms for which available diagnostic techniques are markedly insensitive or nonexistent or when turnaround times for existing tests (e.g., viral culture) are much longer than those expected with amplification. This is the case for rhinoviruses, coronaviruses, and hantaviruses causing a pulmonary syndrome, Bordetella pertussis, Chlamydia pneumoniae, Mycoplasma pneumoniae, and Coxiella burnetii. For Legionella spp. and fungi, contamination originating from the environment is a limiting factor in interpretation of results, as is the difficulty in differentiating colonization and infection. Detection of these agents in urine or blood by amplification techniques remains to be evaluated. In the clinical setting, there is no need for molecular diagnostic tests for the diagnosis of Pneumocystis carinii. At present, amplification methods for Mycobacterium tuberculosis cannot replace the classical diagnostic techniques, due to their lack of sensitivity and the absence of specific internal controls for the detection of inhibitors of the reaction. Also, the results of interlaboratory comparisons are unsatisfactory. Furthermore, isolates are needed for susceptibility studies. Additional work remains to be done on sample preparation methods, comparison between different amplification methods, and analysis of results. The techniques can be useful for the rapid identification of M. tuberculosis in particular circumstances, as well as the rapid detection of most rifampin-resistant isolates. The introduction of diagnostic amplification techniques into a clinical laboratory implies a level of proficiency for

  15. Pulmonary hypertension in dogs: diagnosis and therapy.

    PubMed

    Kellihan, Heidi B; Stepien, Rebecca L

    2010-07-01

    Pulmonary hypertension (PH) has been recognized as a clinical syndrome for many years in veterinary medicine, but routine accurate clinical diagnosis in dogs was greatly enhanced by widespread use of echocardiography and Doppler echocardiography. Most cases of PH in veterinary medicine can be categorized as precapillary or postcapillary. These subsets of patients often differ with regard to clinical presentation, response to therapy, and prognosis. Effective medical therapy is now available to treat this often-devastating clinical complication of common chronic diseases, making accurate diagnosis even more important to patient longevity and quality of life.

  16. Stability of clinical etiologic diagnosis in dementia and mild cognitive impairment: results from a multicenter longitudinal database.

    PubMed

    Koepsell, Thomas D; Gill, Dawn P; Chen, Baojiang

    2013-12-01

    Many new therapies for dementia target a specific pathologic process and must be applied early. Selection of specific therapy is based on the clinical etiologic diagnosis. We sought to determine the stability of the clinical etiologic diagnosis over time and to identify factors associated with instability. We identified 4141 patients with dementia or mild cognitive impairment who made at least 2 visits approximately a year apart to a dementia research center, receiving a clinical etiologic diagnosis on each visit. We assessed concordance of etiologic diagnoses across visits, κ-statistics, and transition probabilities among diagnoses. The primary clinical etiologic diagnosis remained stable for 91% of patients but with a net shift toward dementia with Lewy bodies and Alzheimer's disease. Lower diagnostic stability was significantly associated with older age, nonwhite race, milder disease at presentation, more underlying conditions contributing to cognitive decline, lack of a consistent spouse/partner informant, and being evaluated by different clinicians on different visits. Multistate Markov modeling generally confirmed these associations. Clinical etiologic diagnoses were generally stable. However, several readily ascertained characteristics were associated with higher instability. These associations may be useful to clinicians for anticipating when an etiologic diagnosis may be more prone to future change. PMID:24363072

  17. Computer-aided clinical laboratory diagnosis in conjunction with the electronic medical textbook.

    PubMed

    Kawamata, F; Kondoh, M; Mori, C; Endoh, J; Takahashi, T

    1995-01-01

    1. INTRODUCTION. Medical knowledge has been increasing and diversifying on a worldwide scale, while the specialization of physicians has been extended vigorously. Under this environment, it may be natural that mistakes are made in a comprehensive diagnosis, as the physician cannot master all of this dramatically increasing volume of knowledge. The knowledge has extended beyond the memory of human beings, thereby causing the deterioration of service; this is called the "Knowledge crisis." To tackle this problem, the Electronic Medical Textbook (EMT) has been conceived and set up as a medical knowledge base for physicians to optimize both their specialties and activities in clinical practice. Meanwhile, laboratory information systems were widely introduced. However, there are few systems which allow interpretation of the findings obtained. With this in mind, we have improved the utility of the EMT by enhancing its function with laboratory information follow-up, thesaurus back-up, Japanese language support, and online access. 2. SYSTEM DESCRIPTION. The knowledge database for medical decision-making consists of three categories: 1) Medical domain knowledge (including approximately 3500 diseases) from the AMA's "The Current Medical Information & Terminology (CMIT)"; 2) Knowledge on relationship between laboratory testing results and diseases from "The Effects of Disease on Clinical Laboratory," compiled by the AACC; and 3) Clinical testing knowledge from Otsuka's laboratory test handbook "Kensa-Kojien." These categories are connected by links in the process of cross-reference. In actual use, the first is to select the supporting system bringing up clinical signs and findings on CRT from which users can then choose any representations corresponding to the patient's clinical state. Once the relevant objects have been selected, the system presents the correlated investigative tests to be performed, along with a scope of laboratory tests ordering for its initial

  18. Clinical Significance of Auditory Target P300 Subcomponents in Psychosis: Differential Diagnosis, Symptom Profiles, and Course

    PubMed Central

    Perlman, Greg; Foti, Dan; Jackson, Felicia; Kotov, Roman; Constantino, Eduardo; Hajcak, Greg

    2015-01-01

    Background Reduced auditory target P300 amplitude is a leading biomarker for psychotic disorders, although its relevance for differential diagnosis and link to specific clinical features (symptom profiles, functional impairment, and course) is unclear. This study aims to clarify the clinical significance of auditory target P300 using concurrent and retrospective clinical data from a longitudinal cohort with psychosis. Methods 92 cases from an epidemiological study of first-admission psychosis were assessed using an auditory oddball paradigm at 15-year follow-up along with 44 never-psychotic adults. Subcomponents of auditory target P300 amplitude (i.e., a central positive P3a, a parietal positive P3b, and a frontal negative slow wave) were isolated using temporal-spatial principal components analysis. Results P3a amplitude was blunted across psychotic disorders relative to non-psychotic adults. P3b amplitude was reduced in schizophrenia specifically, including cases initially misclassified at baseline. The frontal negative slow wave did not distinguish among groups. P3b amplitude reduction was associated with several clinical features at the concurrent assessment, as well as previous time points, including recovery from psychosis even 5 years earlier and functioning even 15 years earlier. Conclusions Auditory target P300 amplitude yields both a schizophrenia-specific component (i.e., P3b) and a transdiagnostic psychosis component (i.e., P3a). The P3b component may also shed light on prognosis, real-world functioning, and course, as well as help to reduce misdiagnosis of psychotic disorders. Prospective studies are needed to test whether P3b tracks or predicts clinical status. PMID:25934167

  19. Psychiatric comorbidity in young adults with a clinical diagnosis of Asperger syndrome.

    PubMed

    Lugnegård, Tove; Hallerbäck, Maria Unenge; Gillberg, Christopher

    2011-01-01

    In children with autism spectrum disorders, previous studies have shown high rates of psychiatric comorbidity. To date, studies on adults have been scarce. The aim of the present study was to investigate psychiatric comorbidity in young adults with Asperger syndrome. Participants were 26 men and 28 women (mean age 27 years) with a clinical diagnosis of Asperger syndrome. Psychiatric comorbidity was assessed by the Structured Clinical Interview for DSM-IV Axis I Disorders. IQ was measured using the Wechsler Adult Intelligence Scale, Third Edition. Autism spectrum diagnoses were confirmed using the DIagnostic Interview for Social and Communication Disorders. In our study group, 70% had experienced at least one episode of major depression, and 50% had suffered from recurrent depressive episodes. Anxiety disorders were seen in about 50%. Psychotic disorders and substance-induced disorders were uncommon. In conclusion, young adults with autism spectrum disorders are at high risk for mood and anxiety disorders. To identify these conditions and offer treatment, elevated vigilance is needed in clinical practice.

  20. Knowledge, attitudes, and clinical experience of physicians regarding preimplantation genetic diagnosis for hereditary cancer predisposition syndromes.

    PubMed

    Brandt, Amanda C; Tschirgi, Matthew L; Ready, Kaylene J; Sun, Charlotte; Darilek, Sandra; Hecht, Jacqueline; Arun, Banu K; Lu, Karen H

    2010-09-01

    Approximately 5-10% of cancers are caused by an inherited predisposition. Individuals affected by hereditary cancer are often concerned about transmitting a predisposition to cancer to their children. Preimplantation genetic diagnosis (PGD) is a technology that allows embryos without a deleterious mutation associated with a hereditary cancer syndrome to be identified and implanted. The aim of this study is to assess the knowledge, attitudes, and clinical experience of physicians regarding PGD for hereditary cancer predisposition syndromes. Hereditary Breast and Ovarian Cancer (HBOC) and Familial Adenomatous Polyposis (FAP) are two hereditary cancer syndromes highlighted in this present study. A survey assessing physicians' attitudes, knowledge, and clinical practice was completed by a total of 373 gynecologic oncologists (GYN ONCs) and obstetrics and gynecologists (OB/GYNs). Physicians had a limited knowledge of PGD for hereditary cancer; however, physicians reported PGD was an appropriate option for patients with either HBOC or FAP. Although GYN ONCs were more likely to care for patients with hereditary cancer (P < 0.001), they were less likely than OB/GYNs to refer their patients to a PGD specialist (P = 0.004). While 80% of GYN ONCs and 91% of OB/GYNs would refer patients to a PGD specialist, clinical experience indicates that only 29% actually referred their patients. Since 68% of physicians had incorrect or limited knowledge of PGD for hereditary cancer, there is a need for additional education.

  1. The clinical features and diagnosis of Metachromatic leukodystrophy: A case series of Iranian Pediatric Patients

    PubMed Central

    JABBEHDARI, Sayena; RAHIMIAN, Elham; JAFARI, Narjes; SANII, Sara; KHAYATZADEHKAKHKI, Simin; NEJAD BIGLARI, Habibe

    2015-01-01

    Objective Metachromatic leukodystrophy disorder (MLD) is one of the rare neurometabolic diseases caused due to lack of saposin B and arylsulfatase A enzyme deficiency. Materials & Methods Eighteen patients diagnosed as metachromatic leukodystrophy in the Neurology Department of Mofid Children’s Hospital in Tehran, Iran between 2010 and 2014 were included in our study. The disorder was confirmed by clinical, EMG-NCV, arylsulfatase A enzyme checking and neuroimaging findings along with neurometabolic and genetic assessment from reference laboratory in Iran. We assessed age, gender, past medical history, developmental status, clinical manifestations, and neuroimaging findings of 18 patients with metachromatic leukodystrophy. Results From 18 patients, 80% were offspring from consanguineous marriages. A family history of metachromatic leukodystrophy disease was positive for four patients. Twelve patients had late infantile form of this disorder and six patients had juvenile form. A history of tonic type seizure was positive in 20% of the patients and tonic spasm was confirmed with clinical information. Electromyographgraphy (EMG) in 96% of patients was abnormal with demyelinating sensorimotor neuropathy pattern. MRI in all patients showed the leukodystrophic pattern as arcuate fibers sparing and subcortical rim in white matter and periventricular involvement. Our diagnosis was confirmed by EMG-NCV findings with sensorimotor neuropathy pattern and the assessment of arylsulfatase A enzyme function. Conclusion MLD is an inheritance metabolic disorder, which was confirmed by the assessment of arylsulfatase A enzyme function, peripheral blood leukocyte that assessed in a referral laboratory in Iran. PMID:26401154

  2. Brainstem tegmental lesions in neonates with hypoxic-ischemic encephalopathy: Magnetic resonance diagnosis and clinical outcome

    PubMed Central

    Quattrocchi, Carlo Cosimo; Fariello, Giuseppe; Longo, Daniela

    2016-01-01

    Lesions of the brainstem have been reported in the clinical scenarios of hypoxic-ischemic encephalopathy (HIE), although the prevalence of these lesions is probably underestimated. Neuropathologic studies have demonstrated brainstem involvement in severely asphyxiated infants as an indicator of poor outcome. Among survivors to HIE, the most frequent clinical complaints that may be predicted by brainstem lesions include feeding problems, speech, language and communication problems and visual impairments. Clinical series, including vascular and metabolic etiologies, have found selective involvement of the brainstem with the demonstration of symmetric bilateral columnar lesions of the tegmentum. The role of brainstem lesions in HIE is currently a matter of debate, especially when tegmental lesions are present in the absence of supra-tentorial lesions. Differential diagnosis of tegmental lesions in neonates and infants include congenital metabolic syndromes and drug-related processes. Brainstem injury with the presence of supratentorial lesions is a predictor of poor outcome and high rates of mortality and morbidity. Further investigation will be conducted to identify specific sites of the brainstem that are vulnerable to hypoxic-ischemic and toxic-metabolic insults. PMID:26981220

  3. Disease activity in Graves' ophthalmopathy: diagnosis with orbital MR imaging and correlation with clinical score.

    PubMed

    Tortora, Fabio; Cirillo, Mario; Ferrara, Marco; Belfiore, Maria Paola; Carella, Carlo; Caranci, Ferdinando; Cirillo, Sossio

    2013-10-01

    In Graves' ophthalmopathy (GO) it is important to distinguish acute inflammation at an early stage, responsive to immunosuppressive treatment, from inactive fibrotic end stage disease, unresponsive to the same treatment. The purpose of this study was to identify the most relevant signal intensities on orbital MR imaging with contrast administration both to classify patients according to their clinical activity score (defined by a cut-off value of 3) and to make a prediction of patient's CAS. Such threshold was considered as widely used in literature. Sixteen consecutive patients with a diagnosis of GO in different phases of thyroid disease based on clinical and orbital MR imaging signs, and six normal volunteers were examined. Orbital MR imaging was performed on a 1.5 Tesla MR Unit. MR scans were assessed by an experienced neuroradiologist, blinded to the clinical examinations. We found a statistical correlation between CAS and both STIR and contrast enhanced T1-weighted sequences. There was also a statistically significant correlation between STIR and contrast-enhanced T1 images disclosing the possibility of avoiding the injection of contrast medium. Our study proved that signal intensity values on STIR sequence increase in the inflammatory oedematous phase of disease. We confirmed the correlation between signal intensities on this sequence and CAS, showing an increase in signal intensity proportional to the CAS value. So we validated MRI use to establish the activity phase of disease more sensitively than CAS alone.

  4. Disease Activity in Graves' Ophthalmopathy: Diagnosis with Orbital MR Imaging and Correlation with Clinical Score

    PubMed Central

    Tortora, Fabio; Cirillo, Mario; Ferrara, Marco; Belfiore, Maria Paola; Carella, Carlo; Caranci, Ferdinando; Cirillo, Sossio

    2013-01-01

    Summary In Graves' ophthalmopathy (GO) it is important to distinguish acute inflammation at an early stage, responsive to immunosuppressive treatment, from inactive fibrotic end stage disease, unresponsive to the same treatment. The purpose of this study was to identify the most relevant signal intensities on orbital MR imaging with contrast administration both to classify patients according to their clinical activity score (defined by a cut-off value of 3) and to make a prediction of patient's CAS. Such threshold was considered as widely used in literature. Sixteen consecutive patients with a diagnosis of GO in different phases of thyroid disease based on clinical and orbital MR imaging signs, and six normal volunteers were examined. Orbital MR imaging was performed on a 1.5 Tesla MR Unit. MR scans were assessed by an experienced neuroradiologist, blinded to the clinical examinations. We found a statistical correlation between CAS and both STIR and contrast enhanced T1-weighted sequences. There was also a statistically significant correlation between STIR and contrast-enhanced T1 images disclosing the possibility of avoiding the injection of contrast medium. Our study proved that signal intensity values on STIR sequence increase in the inflammatory oedematous phase of disease. We confirmed the correlation between signal intensities on this sequence and CAS, showing an increase in signal intensity proportional to the CAS value. So we validated MRI use to establish the activity phase of disease more sensitively than CAS alone. PMID:24199816

  5. [Cervicogenic proprioceptive vertigo: etiopathogenesis, clinical manifestations, diagnosis and therapy with special emphasis on manual therapy].

    PubMed

    Grgić, Vjekoslav

    2006-01-01

    Cervical proprioceptive system (CPS) consisting of mechanoreceptors of cervical intervertebral joints, mechanoreceptors of neck muscles and ligament's insertions, muscle spindles located in deep short muscles of cervical spine and sensitive fibers connecting neck's proprioceptors with neurons of cornu posteriori of spinal cord, plays an essential part in maintaining bodily balance. CPS, via tractus spinovestibularis, is connected to vestibular nuclei. Clinical and neurophysiological studies have shown that functional disorders and/or organic lesions of CPS cause identical symptoms as vestibular diseases: vertigo, nystagmus and balance disorders. Dysfunction (functional blockade) of craniocervical joints is the most frequent cause of cervicogenic proprioceptive vertigo (CPV). The constant tension of the capsule of a blocked joint irritates mechanoreceptors protecting the joint's capsules. The increased activity of mechanoreceptors results in confusion of vestibular system. That is, the impulses from the blocked craniocervical joints do not correspond to the impulses from the vestibular organ and other sensory systems that take part in maintaining bodily balance. The disharmony of impulses results in an inadequate vestibulo-spinal and vestibulo-ocular reaction manifesting as vertigo and nystagmus. Hyperactivity of craniocervical mechanoreceptors also causes disturbances in reflex regulation of postural muscle tonus manifesting as "general instability". Knowledge of CPV as a separate clinical entity is important from diagnostical and therapeutical aspect. As it concerns a peripheral vestibular disorder still unknown to a wider circle of physicians, the article describes etiopathogenesis, clinical manifestations, diagnosis and therapy of CPV with special emphasis on manual therapy.

  6. A review of signal processing techniques for heart sound analysis in clinical diagnosis.

    PubMed

    Emmanuel, Babatunde S

    2012-08-01

    This paper presents an overview of approaches to analysis of heart sound signals. The paper reviews the milestones in the development of phonocardiogram (PCG) signal analysis. It describes the various stages involved in the analysis of heart sounds and discrete wavelet transform as a preferred method for bio-signal processing. In addition, the gaps that still exist between contemporary methods of signal analysis of heart sounds and their applications for clinical diagnosis is reviewed. A lot of progress has been made but crucial gaps still exist. The findings of this review paper are as follows: there is a lack of consensus in research outputs; inter-patient adaptability of signal processing algorithm is still problematic; the process of clinical validation of analysis techniques was not sufficiently rigorous in most of the reviewed literature; and as such data integrity and measurement are still in doubt, which most of the time led to inaccurate interpretation of results. In addition, the existing diagnostic systems are too complex and expensive. The paper concluded that the ability to correctly acquire, analyse and interpret heart sound signals for improved clinical diagnostic processes has become a priority.

  7. Three-dimensional shape construction of pulsatile tissue from ultrasonic movies for assistance of clinical diagnosis

    NASA Astrophysics Data System (ADS)

    Fukuzawa, Masayuki; Kawaguchi, Hikari; Yamada, Masayoshi; Nakamori, Nobuyuki; Kitsunezuka, Yoshiki

    2010-02-01

    Three-dimensional shape of pulsatile tissue due to blood flow, which is one of key diagnostic features in ischemia, has been constructed from 2D ultrasonic movies for assisting clinical diagnosis. The 2D ultrasonic movies (640x480pixels/frame, 8bits/pixel, 33ms/frame) were taken with a conventional ultrasonic apparatus and an ultrasonic probe, while measuring the probe orientations with a compact tilt-sensor. The 2D images of pulsatile strength were obtained from each 2D ultrasonic movie by evaluating a heartbeat-frequency component calculated by Fourier transform of a series of pixel values sampled at each pixel. The 2D pulsatile images were projected into a 3D domain to obtain a 3D grid of pulsatile strength according to the probe orientations. The 3D shape of pulsatile tissue was constructed by determining the iso-surfaces of appropriate strength in the 3D grid. The shapes of pulsatile tissue examined in neonatal crania clearly represented the 3D structures of several arteries such as middle cerebral artery, which is useful for diagnosis of ischemic diseases. Since our technique is based on feature extraction in tissue dynamics, it is also useful for homogeneous tissue, for which conventional 3D ultrasonogram is unsuitable due to unclear tissue boundary.

  8. Agreement among neurologists on the clinical diagnosis of dystonia at different body sites

    PubMed Central

    Logroscino, G; Livrea, P; Anaclerio, D; Aniello, M; Benedetto, G; Cazzato, G; Giampietro, L; Manobianca, G; Marra, M; Martino, D; Pannarale, P; Pulimeno, R; Santamato, V; Defazio, G

    2003-01-01

    Methods: 12 patients with adult onset focal segmental dystonia were videotaped in a standardised way. The tape was sent to six neurologists who are involved in clinical practice without a specific interest in movement disorders (general neurologists), and to four neurologists expert in movement disorders. The observers had to recognise whether the patients were affected by dystonia and to distinguish among blepharospasm, oromandibular dystonia, cervical dystonia, and writer's cramp. Interobserver reliability was assessed by κ statistics, and the degree of agreement was classified according to the Landis classification. Results: The 10 neurologists reached slight to moderate agreement on the diagnosis of these four disorders. When the observers were subdivided according with their professional experience in the field, a moderate to perfect agreement on the diagnosis was achieved by specialists in movement disorders, and a fair to moderate agreement by the general neurologists. Conclusions: Neurologists may have different ability to recognise adult onset focal dystonia, depending on their experience and on the type of dystonia. PMID:12588923

  9. Difficult diagnoses in an austere environment: a clinical vignette ?the presentation, diagnosis, and management of ichthyosis.

    PubMed

    Pickard-Gabriel, C J; Rudinsky, Sherri

    2013-01-01

    Lamellar ichthyosis (LI) is a rare inherited skin disorder of cornification, with an incidence of approximately 1 in 200,000 births. It is one of three types of autosomal recessive congenital ichthyosis (ARCI), a collective term for the spectrum of nonsyndromic ichthyoses caused by a number of well-described genetic mutations. We describe the case of LI diagnosed in a 10-day-old child of a Somali refugee at a free clinic in downtown Djibouti. Initial concern was for staphylococcal infection versus congenital disease. With the use of digital photographs, consultation with experts accessed through the Army Teledermatology Consultation Service supported a diagnosis of ARCI. Providing care to patients in austere environments can present numerous medical challenges. A provider cannot be expected to be able to diagnose and treat every disease and disorder alone, especially if there is a language barrier. Telemedicine can help close the gap in knowledge, particularly when presented with a challenging case. With a novel presentation, simply taking a photograph and e-mailing a consultant can quickly augment one?s medical acumen, ensuring appropriate diagnosis and treatment. PMID:23526325

  10. Melioidosis in animals: a review on epizootiology, diagnosis and clinical presentation.

    PubMed

    Sprague, L D; Neubauer, H

    2004-09-01

    Melioidosis, an infectious disease caused by Burkholderia pseudomallei is an emerging disease with high impact on animals and man. In different animal species, the clinical course varies and delayed diagnosis poses risks for the dissemination of the agent in non-endemic areas. Not only migration and transport of animals around the world but also tourism increases the risk that melioidosis can leave its endemic boundaries and establish itself elsewhere. Detection of the agent is a major challenge, as the agent has to be handled in laboratories of biosafety level 3 and test kits are not yet commercially available. Veterinarians and doctors should be aware of melioidosis not only as an agent of public interest but also in terms of a bioterrorist attack. The aim of this review is to describe the agent, its aetiology, the manifestation in a variety of animal species as well as to describe diagnostic procedures, typing techniques and countermeasures.

  11. Molecular Testing for Clinical Diagnosis and Epidemiological Investigations of Intestinal Parasitic Infections

    PubMed Central

    Stensvold, C. Rune

    2014-01-01

    SUMMARY Over the past few decades, nucleic acid-based methods have been developed for the diagnosis of intestinal parasitic infections. Advantages of nucleic acid-based methods are numerous; typically, these include increased sensitivity and specificity and simpler standardization of diagnostic procedures. DNA samples can also be stored and used for genetic characterization and molecular typing, providing a valuable tool for surveys and surveillance studies. A variety of technologies have been applied, and some specific and general pitfalls and limitations have been identified. This review provides an overview of the multitude of methods that have been reported for the detection of intestinal parasites and offers some guidance in applying these methods in the clinical laboratory and in epidemiological studies. PMID:24696439

  12. Molecular testing for clinical diagnosis and epidemiological investigations of intestinal parasitic infections.

    PubMed

    Verweij, Jaco J; Stensvold, C Rune

    2014-04-01

    Over the past few decades, nucleic acid-based methods have been developed for the diagnosis of intestinal parasitic infections. Advantages of nucleic acid-based methods are numerous; typically, these include increased sensitivity and specificity and simpler standardization of diagnostic procedures. DNA samples can also be stored and used for genetic characterization and molecular typing, providing a valuable tool for surveys and surveillance studies. A variety of technologies have been applied, and some specific and general pitfalls and limitations have been identified. This review provides an overview of the multitude of methods that have been reported for the detection of intestinal parasites and offers some guidance in applying these methods in the clinical laboratory and in epidemiological studies.

  13. [Calcinosis of the carotid siphon--morphology, differential diagnosis and clinical relevance].

    PubMed

    Eppinger, B; Schumacher, M

    1986-11-01

    In order to determine the clinical significance and hemodynamic relevance of carotid siphon calcification 241 patients were investigated by doppler sonography and skull x-ray. Comparing 139 patients with and 60 patients without siphon calcification, we examined the predictive value of carotid calcification regarding obstructive vessel disease as indicated by doppler sonography. Both groups were compared with 42 patients who all had doppler sonographic signs of severe carotid stenosis. No significant difference was found regarding the incidence of stenosis between the groups with and without siphon calcification (13% vs. 15%). Interpreting siphon calcification as a general sign of atherosclerosis seems therefore not justified. An over proportionally high rate (61.9%) of siphon calcification can only be expected by selected patients with severe obstructive vessels disease. Etiological factors are discussed and differential diagnosis of siphon calcification is demonstrated by cases.

  14. Guidelines for the diagnosis, treatment and clinical monitoring of patients with juvenile and adult Pompe disease.

    PubMed

    Llerena Junior, Juan Clinton; Nascimento, Osvaldo Jm; Oliveira, Acary Souza B; Dourado Junior, Mario Emilio T; Marrone, Carlo D; Siqueira, Heloise Helena; Sobreira, Cláudia F R; Dias-Tosta, Elza; Werneck, Lineu Cesar

    2016-02-01

    Pompe disease (PD) is a potentially lethal illness involving irreversible muscle damage resulting from glycogen storage in muscle fiber and activation of autophagic pathways. A promising therapeutic perspective for PD is enzyme replacement therapy (ERT) with the human recombinant enzyme acid alpha-glucosidase (Myozyme®). The need to organize a diagnostic flowchart, systematize clinical follow-up, and establish new therapeutic recommendations has become vital, as ERT ensures greater patient longevity. A task force of experienced clinicians outlined a protocol for diagnosis, monitoring, treatment, genetic counseling, and rehabilitation for PD patients. The study was conducted under the coordination of REBREPOM, the Brazilian Network for Studies of PD. The meeting of these experts took place in October 2013, at L'Hotel Port Bay in São Paulo, Brazil. In August 2014, the text was reassessed and updated. Given the rarity of PD and limited high-impact publications, experts submitted their views. PMID:26690841

  15. Clinical Use of Doppler Echocardiography in Organic Mitral Regurgitation: From Diagnosis to Patients' Management

    PubMed Central

    Russo, Antonio; Pasquale, Ferdinando; Biagini, Elena; Barberini, Francesco; Ferlito, Marinella; Leone, Ornella; Rapezzi, Claudio

    2015-01-01

    Knowledge of mitral regurgitation (MR) is essential for any care provider, and not only for those directly involved in the management of cardiovascular diseases. This happens because MR is the most frequent valvular lesion in North America and the second most common form of valve disease requiring surgery in Europe. Furthermore, due to the ageing of the general population and the reduced mortality from acute cardiovascular events, the prevalence of MR is expected to increase further. Doppler echocardiography is essential both for the diagnosis and the clinical management of MR. In the present article, we sought to provide a practical step-by-step approach to help either performing a Doppler echocardiography or interpreting its findings in light of contemporary knowledge on organic (but not only) MR. PMID:26448820

  16. Somatic symptom disorder, a new DSM-5 diagnosis of an old clinical challenge.

    PubMed

    Rosic, Tea; Kalra, Sameer; Samaan, Zainab

    2016-01-01

    Somatic symptom disorder (SSD) is characterised by a dysfunctional preoccupation with one or more physical symptoms. Patients with SSD often pursue excessive and unnecessary investigations, hospitalisations and treatments that significantly affect quality of life and drain healthcare resources. Thus, appropriate diagnosis and careful management are required to mitigate the patient's distress and to reduce the burden to the healthcare system. SSD is a new disorder defined in the Diagnostic and Statistical Manual Fifth Edition (DSM-5), replacing somatoform and related disorders in the DSM-4-Text Revision with diagnostic criteria that are inclusive of a broad array of presentations. This report presents a detailed clinical case of an elderly man with a history of frequent hospital visits presenting with SSD. We discuss diagnostic challenges and evidence-based management in acute inpatient as well as in outpatient settings. We also review data on healthcare utilisation associated with SSD. PMID:26759438

  17. Melioidosis in animals: a review on epizootiology, diagnosis and clinical presentation.

    PubMed

    Sprague, L D; Neubauer, H

    2004-09-01

    Melioidosis, an infectious disease caused by Burkholderia pseudomallei is an emerging disease with high impact on animals and man. In different animal species, the clinical course varies and delayed diagnosis poses risks for the dissemination of the agent in non-endemic areas. Not only migration and transport of animals around the world but also tourism increases the risk that melioidosis can leave its endemic boundaries and establish itself elsewhere. Detection of the agent is a major challenge, as the agent has to be handled in laboratories of biosafety level 3 and test kits are not yet commercially available. Veterinarians and doctors should be aware of melioidosis not only as an agent of public interest but also in terms of a bioterrorist attack. The aim of this review is to describe the agent, its aetiology, the manifestation in a variety of animal species as well as to describe diagnostic procedures, typing techniques and countermeasures. PMID:15525357

  18. Clinical presentation, diagnosis and management of Cryptococcus gattii cases: Lessons learned from British Columbia

    PubMed Central

    Galanis, Eleni; Hoang, Linda; Kibsey, Pamela; Morshed, Muhammad; Phillips, Peter

    2009-01-01

    The environmental fungus Cryptococcus gattii emerged on Vancouver Island, British Columbia (BC), in 1999. By the end of 2006, it led to 176 cases and eight deaths – one of the highest burdens of C gattii disease worldwide. The present paper describes three cases, and the BC experience in the diagnosis and management of this infection. All three cases presented with pulmonary findings, including cryptococcomas and infiltrates. One also presented with brain cryptococcomas. Cases were diagnosed by chest and brain imaging, and laboratory evidence including serum or cerebrospinal fluid cryptococcal antigen detection and culture of respiratory or cerebrospinal fluid specimens. Genotyping of fungal isolates confirmed infection with C gattii VGIIa. Pulmonary cases were treated with fluconazole. One patient with central nervous system disease was treated with amphotericin B followed by fluconazole. Although this infection remains rare, clinicians should be aware of it in patients with a compatible clinical presentation who are either living in or returning from a trip to BC. PMID:20190892

  19. Quantum dots for cancer diagnosis and therapy: biological and clinical perspectives.

    PubMed

    Zhang, Hua; Yee, Douglas; Wang, Chun

    2008-02-01

    Quantum dots (QDs) are semiconductor nanocrystals that emit fluorescence on excitation with a light source. They have excellent optical properties, including high brightness, resistance to photobleaching and tunable wavelength. Recent developments in surface modification of QDs enable their potential application in cancer imaging. QDs with near-infrared emission could be applied to sentinel lymph-node mapping to aid biopsy and surgery. Conjugation of QDs with biomolecules, including peptides and antibodies, could be used to target tumors in vivo. In this review, we summarize recent progress in developing QDs for cancer diagnosis and treatment from a clinical standpoint and discuss future prospects of further improving QD technology to identify metastatic cancer cells, quantitatively measure the level of specific molecular targets and guide targeted cancer therapy by providing biodynamic markers for target inhibition.

  20. Differential diagnosis between Streptococcus agalactiae and Listeria Monocytogenes in the clinical laboratory.

    PubMed

    Kontnick, C; von Graevenitz, A; Piscitelli, V

    1977-01-01

    Streptococci of the group B (S. agalactiae) and Listeria monocytogenes resemble each other in many morphological and biochemical characteristics. Ten beta-hemolytic strains of each species were subjected to 26 tests commonly and easily performed in the clinical laboratory. Macroscopic and microscopic morphology on solid media showed differences only in the size of the colonies and in the length of the individual organisms. Among many other tests, hippurate hydrolysis and the CAMP reaction were positive in both species. In the presence of these two reaction, a negative catalase test and chaining in broth would make a presumptive diagnosis of S. agalactiae, while motility at 25 C, the presence of the Henry effect, and resistance to furadantin would be indicative of L. monocytogenes.

  1. How accurately does the VIVO Harvester reflect actual Clinical and Translational Sciences Award–affiliated faculty member publications?*

    PubMed Central

    Eldredge, Jonathan D.; Kroth, Philip J.; Murray-Krezan, Cristina; Hantak, Chad M.; Weagel, Edward F.; Hannigan, Gale G.

    2015-01-01

    Objective: The research tested the accuracy of the VIVO Harvester software in identifying publications authored by faculty members affiliated with a National Institutes of Health Clinical and Translational Sciences Award (CTSA) site. Methods: Health sciences librarians created “gold standard” lists of references for the years 2001 to 2011 from PubMed for twenty-five randomly selected investigators from one CTSA site. These gold standard lists were compared to the same twenty-five investigators' reference lists produced by VIVO Harvester. The authors subjected the discrepancies between the lists to sensitivity and specificity analyses. Results: The VIVO Harvester correctly identified only about 65% of the total eligible PubMed references for the years 2001–2011 for the CTSA-affiliated investigators. The identified references produced by VIVO Harvester were precise yet incomplete. The sensitivity rate was 0.65, and the specificity rate was 1.00. Conclusion: While the references produced by VIVO Harvester could be confirmed in PubMed, the VIVO Harvester retrieved only two-thirds of the required references from PubMed. National Institutes of Health CTSA sites will need to supplement VIVO Harvester–produced references with the expert searching skills of health sciences librarians. Implications: Health sciences librarians with searching skills need to alert their CTSA sites about these deficiencies and offer their skills to advance their sites' missions. PMID:25552940

  2. Chronic pulmonary aspergillosis: rationale and clinical guidelines for diagnosis and management.

    PubMed

    Denning, David W; Cadranel, Jacques; Beigelman-Aubry, Catherine; Ader, Florence; Chakrabarti, Arunaloke; Blot, Stijn; Ullmann, Andrew J; Dimopoulos, George; Lange, Christoph

    2016-01-01

    Chronic pulmonary aspergillosis (CPA) is an uncommon and problematic pulmonary disease, complicating many other respiratory disorders, thought to affect ~240 000 people in Europe. The most common form of CPA is chronic cavitary pulmonary aspergillosis (CCPA), which untreated may progress to chronic fibrosing pulmonary aspergillosis. Less common manifestations include: Aspergillus nodule and single aspergilloma. All these entities are found in non-immunocompromised patients with prior or current lung disease. Subacute invasive pulmonary aspergillosis (formerly called chronic necrotising pulmonary aspergillosis) is a more rapidly progressive infection (<3 months) usually found in moderately immunocompromised patients, which should be managed as invasive aspergillosis. Few clinical guidelines have been previously proposed for either diagnosis or management of CPA. A group of experts convened to develop clinical, radiological and microbiological guidelines. The diagnosis of CPA requires a combination of characteristics: one or more cavities with or without a fungal ball present or nodules on thoracic imaging, direct evidence of Aspergillus infection (microscopy or culture from biopsy) or an immunological response to Aspergillus spp. and exclusion of alternative diagnoses, all present for at least 3 months. Aspergillus antibody (precipitins) is elevated in over 90% of patients. Surgical excision of simple aspergilloma is recommended, if technically possible, and preferably via video-assisted thoracic surgery technique. Long-term oral antifungal therapy is recommended for CCPA to improve overall health status and respiratory symptoms, arrest haemoptysis and prevent progression. Careful monitoring of azole serum concentrations, drug interactions and possible toxicities is recommended. Haemoptysis may be controlled with tranexamic acid and bronchial artery embolisation, rarely surgical resection, and may be a sign of therapeutic failure and/or antifungal resistance

  3. Towards the routine use of brain imaging to aid the clinical diagnosis of disorders of consciousness.

    PubMed

    Coleman, M R; Davis, M H; Rodd, J M; Robson, T; Ali, A; Owen, A M; Pickard, J D

    2009-09-01

    Clinical audits have highlighted the many challenges and dilemmas faced by clinicians assessing persons with disorders of consciousness (vegetative state and minimally conscious state). The diagnostic decision-making process is highly subjective, dependent upon the skills of the examiner and invariably dictated by the patients' ability to move or speak. Whilst a considerable amount has been learnt since Jennett and Plum coined the term 'vegetative state', the assessment process remains largely unchanged; conducted at the bedside, using behavioural assessment tools, which are susceptible to environmental and physiological factors. This has created a situation where the rate of misdiagnosis is unacceptably high (up to 43%). In order to address these problems, various functional brain imaging paradigms, which do not rely upon the patient's ability to move or speak, have been proposed as a source of additional information to inform the diagnostic decision making process. Although accumulated evidence from brain imaging, particularly functional magnetic resonance imaging (fMRI), has been encouraging, the empirical evidence is still based on relatively small numbers of patients. It remains unclear whether brain imaging is capable of informing the diagnosis beyond the behavioural assessment and whether brain imaging has any prognostic utility. In this study, we describe the functional brain imaging findings from a group of 41 patients with disorders of consciousness, who undertook a hierarchical speech processing task. We found, contrary to the clinical impression of a specialist team using behavioural assessment tools, that two patients referred to the study with a diagnosis of vegetative state did in fact demonstrate neural correlates of speech comprehension when assessed using functional brain imaging. These fMRI findings were found to have no association with the patient's behavioural presentation at the time of investigation and thus provided additional diagnostic

  4. AMERICAN COLLEGE OF GASTROENTEROLOGY CLINICAL GUIDELINE: DIAGNOSIS AND MANAGEMENT OF CELIAC DISEASE

    PubMed Central

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

    2013-01-01

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

  5. Examining the potential clinical value of curcumin in the prevention and diagnosis of Alzheimer's disease.

    PubMed

    Goozee, K G; Shah, T M; Sohrabi, H R; Rainey-Smith, S R; Brown, B; Verdile, G; Martins, R N

    2016-02-14

    Curcumin derived from turmeric is well documented for its anti-carcinogenic, antioxidant and anti-inflammatory properties. Recent studies show that curcumin also possesses neuroprotective and cognitive-enhancing properties that may help delay or prevent neurodegenerative diseases, including Alzheimer's disease (AD). Currently, clinical diagnosis of AD is onerous, and it is primarily based on the exclusion of other causes of dementia. In addition, phase III clinical trials of potential treatments have mostly failed, leaving disease-modifying interventions elusive. AD can be characterised neuropathologically by the deposition of extracellular β amyloid (Aβ) plaques and intracellular accumulation of tau-containing neurofibrillary tangles. Disruptions in Aβ metabolism/clearance contribute to AD pathogenesis. In vitro studies have shown that Aβ metabolism is altered by curcumin, and animal studies report that curcumin may influence brain function and the development of dementia, because of its antioxidant and anti-inflammatory properties, as well as its ability to influence Aβ metabolism. However, clinical studies of curcumin have revealed limited effects to date, most likely because of curcumin's relatively low solubility and bioavailability, and because of selection of cohorts with diagnosed AD, in whom there is already major neuropathology. However, the fresh approach of targeting early AD pathology (by treating healthy, pre-clinical and mild cognitive impairment-stage cohorts) combined with new curcumin formulations that increase bioavailability is renewing optimism concerning curcumin-based therapy. The aim of this paper is to review the current evidence supporting an association between curcumin and modulation of AD pathology, including in vitro and in vivo studies. We also review the use of curcumin in emerging retinal imaging technology, as a fluorochrome for AD diagnostics.

  6. NF1 Exon 22 Analysis of Individuals with the Clinical Diagnosis of Neurofibromatosis Type 1

    PubMed Central

    Muram-Zborovski, Talia M.; Vaughn, Cecily P.; Viskochil, David H.; Hanson, Heather; Mao, Rong; Stevenson, David A.

    2010-01-01

    Café-au-lait macules are frequently seen in Ras-MAPK pathway disorders and are a cardinal feature of neurofibromatosis type 1 (NF1). Most NF1 individuals develop age-related tumorigenic manifestations (e.g. neurofibromas), although individuals with a specific 3-bp deletion in exon 22 of NF1 (c.2970_2972delAAT) have an attenuated phenotype with primarily pigmentary manifestations. Previous reports identify this deletion c.2970_2972delAAT in exon 17 of NF1 using NF Consortium nomenclature. For this report, we elected to use standard NCBI nomenclature, which places this identical deletion within exon 22. SPRED1 causes Legius syndrome, which clinically overlaps with this attenuated NF1 phenotype. In an unselected cohort of 150 individuals who fulfilled NIH clinical diagnostic criteria from an NF Clinic and did not have SPRED1 mutations, we sequenced NF1 exon 22 in order to identify children and adolescents with multiple café-au-lait spots who could be projected to have lower likelihood to develop tumors. Two individuals with NF1 exon 22 mutations were identified: an 11-year-old boy with the c.2970_2972delAAT in-frame deletion and a 4-year-old boy with c.2866dupA. The father of the second patient had an attenuated form of NF1 and showed 24% germline mosaicism of the c.2866dupA mutation in whole blood. These individuals emphasize the need for mutation analysis in some individuals with the clinical diagnosis of NF1 who lack the tumorigenic or classic skeletal abnormalities of NF1. Specifically, with the identification of Legius syndrome, the need to recognize the attenuated phenotype of NF1 mosaicism and confirmation by mutation analysis is increasingly important for appropriate medical management and family counseling. PMID:20602485

  7. Light-induced autofluorescence and diffuse reflectance spectroscopy in clinical diagnosis of skin cancer

    NASA Astrophysics Data System (ADS)

    Borisova, E.; Pavlova, E.; Kundurjiev, T.; Troyanova, P.; Genova, Ts.; Avramov, L.

    2014-05-01

    We investigated more than 500 clinical cases to receive the spectral properties of basal cell (136 patients) and squamous cell carcinoma (28), malignant melanoma (41) and different cutaneous dysplastic and benign cutaneous lesions. Excitation at 365, 385 and 405 nm using LEDs sources is applied to obtain autofluorescence spectra, and broad-band illumination in the region of 400-900 nm is used to detect diffuse reflectance spectra of all pathologies investigated. USB4000 microspectrometer (Ocean Optics Inc, USA) is applied as a detector and fiber-optic probe is used for delivery of the light. In the case of in vivo tumor measurements spectral shape and intensity changes are observed that are specific for a given type of lesion. Autofluorescence origins of the signals coming from skin tissues are mainly due to proteins, such as collagen, elastin, keratin, their cross-links, co-enzimes - NADH and flavins and endogenous porphyrins. Spectral features significant into diffuse spectroscopy diagnosis are related to the effects of re-absorption of hemoglobin and its forms, as well as melanin and its concentration in different pathologies. We developed significant database and revealed specific features for a large class of cutaneous neoplasia, using about 30 different spectral peculiarities to differentiate cutaneous tumors. Sensitivity and specificity obtained exceed 90%, which make optical biopsy very useful tool for clinical practice. These results are obtained in the frames of clinical investigations for development of significant "spectral features" database for the most common cutaneous malignant, dysplastic and benign lesions. In the forthcoming plans, our group tries to optimize the existing experimental system for optical biopsy of skin, and to introduce it and the diagnostic algorithms developed into clinical practice, based on the high diagnostic accuracy achieved.

  8. Clinical considerations for the diagnosis and treatment of ADHD in the managed care setting.

    PubMed

    Jensen, Peter S

    2009-05-01

    Although symptoms of attention-deficit/ hyperactivity disorder (ADHD) are certainly most visible in children, the syndrome persists into adolescence in 40% to 70% of cases and into adulthood in 50% or more of cases. Accurate recognition of the disorder is clouded by the frequent presence of psychiatric comorbidities. Contributing to these challenges, managed care providers in primary care are often inexperienced in identifying and treating ADHD in adults because of a lack of formalized training. As such, special consideration must be given to each individual age group and includes identifying common clinical presentations, characterizing the disorder and its comorbidities, applying validated rating scales as screening and treatment outcome measures, and individually assessing patients' optimal response to determine the best course of therapy. Pharmacotherapy is often initiated to target ADHD symptoms with either a stimulant medication or nonstimulants. In addition, behavioral interventions are often applied to treat comorbidities and associated impairments of ADHD. PMID:19601688

  9. Clinical Assessment and Improved Diagnosis of Bocavirus-induced Wheezing in Children, Finland

    PubMed Central

    Lahtinen, Anne; Jartti, Tuomas; Hedman, Lea; Kemppainen, Kaisa; Lehtinen, Pasi; Allander, Tobias; Ruuskanen, Olli; Hedman, Klaus

    2009-01-01

    Human bocavirus (HBoV) is a widespread respiratory virus. To improve diagnostic methods, we conducted immunoglobulin (Ig) G and IgM enzyme immunoassays with recombinant virus–like particles of HBoV as antigen. Acute-phase and follow-up serum samples from 258 wheezing children and single serum samples from 115 healthy adults in Finland were examined. Our assays had a sensitivity of 97% and a specificity of 99.5%. Of adults, 96% had immunity; none had an acute infection. Of 48 children with serologically diagnosed acute HBoV infections, 45 were viremic and 35 had virus in nasopharyngeal aspirates (NPAs). Of 39 HBoV NPA PCR–positive children co-infected with another virus, 64% had a serologically verified HBoV infection. HBoV caused illness of longer duration than rhinovirus and of equal severity to that of respiratory syncytial virus. Among children with bronchiolitis, >25% had acute HBoV infections. Accurate HBoV diagnosis requires serologic analysis or PCR of serum; PCR of NPAs alone is insufficient. PMID:19788810

  10. Preimplantation genetic diagnosis for inherited breast cancer: first clinical application and live birth in Spain.

    PubMed

    Ramón Y Cajal, Teresa; Polo, Ana; Martínez, Olga; Giménez, Carles; Arjona, César; Llort, Gemma; Bassas, Lluís; Viscasillas, Pere; Calaf, Joaquin

    2012-06-01

    Carriers of a mutation in BRCA1/2 genes confront a high lifetime risk of breast and ovarian cancer and fifty percent probability of passing the mutation to their offspring. Current options for risk management influence childbearing decisions. The indications for preimplantation genetic diagnosis (PGD) have now been expanded to include predisposition for single-gene, late-onset cancer but few cases have been reported to date despite the favorable opinion among professionals and carriers. A 28-year-old BRCA1 mutation carrier (5273G>A in exon 19) with a strong maternal history of breast cancer and 2 years of infertility decided to pursue PGD to have a healthy descendent after an accurate assessment of her reproductive options. The procedure was approved by the national regulation authority and a PGD cycle was initiated. Four out of 6 embryos harbored the mutation. The two unaffected embryos were implanted in the uterus. A singleton pregnancy was achieved and a male baby was delivered at term. Consented umbilical cord blood testing confirmed the accuracy of the technique. Individualized PGD for inherited breast predisposition is feasible in the context of a multidisciplinary team. PMID:22179695

  11. Recognizing the link between CKD and CVD in the primary care setting: accurate and early diagnosis for timely and appropriate intervention.

    PubMed

    Basile, Jan N

    2007-05-01

    Chronic kidney disease (CKD), which is becoming increasingly prevalent in the US and worldwide, eventually progresses to end-stage renal disease (ESRD), requiring renal replacement therapy. Diabetes and hypertension, the two leading causes of CKD, are themselves reaching near epidemic proportions. Hypertension can cause both the development and progression of CKD, and CKD is a significant risk factor for the development of cardiovascular disease. Indeed, CKD patients are more likely to die of cardiovascular complications than progress to ESRD. However, data indicate that early recognition and management of CKD can have a significant positive impact on disease outcome. This creates an important interventional opportunity for the primary care physician. This report describes the major risk factors and comorbidities associated with the development and progression of CKD and offers suggestions for timely diagnosis and management of CKD in the primary care setting.

  12. The clinical pathological features, diagnosis, treatment and prognosis of small intestine primary malignant tumors.

    PubMed

    Guo, Xiaochuan; Mao, Zhiyuan; Su, Dan; Jiang, Zhaocai; Bai, Li

    2014-04-01

    The aim of the study was to describe and analyze the clinicopathological features and diagnosis of Chinese patients with small intestine primary malignant tumors and to explore the best therapy to small bowel adenocarcinoma (SBA). More than 26,000 patients with digestive tract malignant tumors received treatment in PLA hospital from 2000 to 2011, and among them, there were 887 patients who had small intestine primary malignant tumors, and 666 of 887 patients had the completed basic clinical documents. We retrospectively analyzed the correlation between clinical and pathological features of the 666 patients and analyzed the survival and prognosis of 173 SBA patients with follow-up data. Both the number of patients with primary malignant tumors of the small intestine and the number of patients who received chemotherapy showed an increasing trend. The ratio of male to female was 1.58:1. The male patients significantly exceed the female patients with tumors of non-ampullary duodenum, jejunum and duodenal ampulla; and most of the patients are over 60 years of age. For patients burdened with either of the pathological types of tumors, the males exceeded the females, but there was no significant difference. Abdominal pain was the main clinical manifestation for patients with tumors of non-ampullary duodenum, jejunum and ileum, and the most common clinical manifestations were jaundice and abdominal pain for patients with ampullary duodenal tumors, adenocarcinoma, neuroendocrine tumors and sarcoma. In addition, patients with stromal tumors were prone to gastrointestinal bleeding. Gastrointestinal endoscopy was the most common examinational procedure. Patients under 60 years of age were prone to surgery and chemotherapy after surgery, and patients over 60 years of age were prone to supportive treatment and chemotherapy without surgery. The medium overall survival of patients who received surgery without chemotherapy, chemotherapy after surgery, chemotherapy without surgery

  13. Evaluation for the clinical diagnosis of Pythium insidiosum using a single-tube nested PCR.

    PubMed

    Thongsri, Yordhathai; Wonglakorn, Lumyai; Chaiprasert, Angkana; Svobodova, Lucie; Hamal, Petr; Pakarasang, Maitree; Prariyachatigul, Chularut

    2013-12-01

    Pythiosis is a rare infectious disease caused by Pythium insidiosum, which typically occurs in tropical and subtropical regions. The high mortality rate may be in consequence of the lack of diagnosis. The objective of this study was to evaluate reliability of a new single-tube nested PCR for detection of P. insidiosum DNA. A total of 78 clinical isolates of various fungi and bacteria, 106 clinical specimens and 80 simulated positive blood samples were tested. The developed primer pairs CPL6-CPR8 and YTL1-YTR1 are located on 18S subunit of the rRNA gene of P. insidiosum. The specificity, negative and positive predictive values were 100, 100 and 87.5 %, respectively, as compared with direct microscopy and cultivation. The detection limit of the single-tube nested PCR was 21 zoospores corresponding to 2.7 pg of the DNA. The results demonstrate that the new single-tube nested PCR offers a highly sensitive, specific and rapid genetic method for detecting P. insidiosum. PMID:23948967

  14. A case with oto-spondylo-mega-epiphyseal-dysplasia (OSMED): the clinical recognition and differential diagnosis.

    PubMed

    Karaer, Kadri; Rosti, Rasim Ozgür; Torun, Deniz; Sanal, Hatice Tuba; Bahçe, Muhterem; Güran, Sefik

    2011-01-01

    The oto-spondylo-mega-epiphyseal-dysplasia (OSMED) phenotype is an autosomal recessive trait that is a skeletal dysplasia with the hallmark findings of limb shortening, multiple skeletal and radiological abnormalities, mid-face hypoplasia with a flat nasal bridge, small upturned nasal tip, and sensorineural hearing loss. A 3.5-year-old girl born to consanguineous Turkish parents had characteristic facial features at birth: mid-face hypoplasia, mild hypertelorism, upslanting palpebral fissures, prominent supraorbital ridges, depressed nasal bridge, small upturned nasal tip, long philtrum, and micrognathia. Radiological examination at three years of age revealed large flaring metaphyses and wide flat epiphyses. The humerus and femur showed the characteristic dumbbell shape. She had bilateral hearing loss with no ophthalmologic findings. There is continuing debate over the clinical overlap and differential diagnosis of OSMED syndrome. The patient was examined considering Weissenbacher-Zweymuller, Stickler type 3, Marshall syndrome, and Kniest dysplasia as possible differential diagnoses. We believe that the presented patient clinically manifested features of OSMED syndrome. We would like to point out that the management of OSMED calls for a coordinated multidisciplinary approach. PMID:21980822

  15. The Clinical Utility of a Low Serum Ceruloplasmin Measurement in the Diagnosis of Wilson Disease.

    PubMed

    Kelly, D; Crotty, G; O'Mullane, J; Stapleton, M; Sweeney, B; O'Sullivan, S S

    2016-01-01

    The first step in screening for potential Wilson disease is serum ceruloplasmin testing, whereby a level of less than 0.2g/L is suggestive of the disease. We aimed to determine what proportion of an Irish population had a low ceruloplasmin level, whether low measurements were appropriately followed-up and what were the clinical outcomes. We conducted a retrospective review of all serum ceruloplasmin measurements between August 2003 and October 2009 in a large tertiary referral centre in Southern Ireland. Clinical data, serum ceruloplasmin, liver function tests, urinary copper and liver biopsy reports were all recorded where available. 1573 patients had a serum ceruloplasmin measurement during the 7-year study period. 96 patients (6.1%) had a ceruloplasmin level < 0.2g/L and of these only 3 patients had Wilson disease. There was only 1 new diagnosis. Only 27 patients (28.1%) had some form of confirmatory testing performed. In our centre's experience, the positive predictive value of a significantly low ceruloplasmin level is 11.1% (95% CI 2.91-30.3%). In practice a low serum ceruloplasmin measurement is often not followed by appropriate confirmatory testing. Measuring serum ceruloplasmin as a singular diagnostic test for Wilson disease or as part of the battery of unselected liver screening tests is inappropriate and low-yield.

  16. Cutaneous and Mucosal Lichen Planus: A Comprehensive Review of Clinical Subtypes, Risk Factors, Diagnosis, and Prognosis

    PubMed Central

    2014-01-01

    Lichen planus (LP) is a chronic inflammatory disorder that most often affects middle-aged adults. LP can involve the skin or mucous membranes including the oral, vulvovaginal, esophageal, laryngeal, and conjunctival mucosa. It has different variants based on the morphology of the lesions and the site of involvement. The literature suggests that certain presentations of the disease such as esophageal or ophthalmological involvement are underdiagnosed. The burden of the disease is higher in some variants including hypertrophic LP and erosive oral LP, which may have a more chronic pattern. LP can significantly affect the quality of life of patients as well. Drugs or contact allergens can cause lichenoid reactions as the main differential diagnosis of LP. LP is a T-cell mediated immunologic disease but the responsible antigen remains unidentified. In this paper, we review the history, epidemiology, and clinical subtypes of LP. We also review the histopathologic aspects of the disease, differential diagnoses, immunopathogenesis, and the clinical and genetic correlations. PMID:24672362

  17. Towards the pre-clinical diagnosis of hypothyroidism caused by iodotyrosine deiodinase (DEHAL1) defects.

    PubMed

    Iglesias, Ainhoa; García-Nimo, Laura; Cocho de Juan, José A; Moreno, José C

    2014-03-01

    DEHAL1 (also named IYD) is the thyroidal enzyme that deiodinates mono- and diiodotyrosines (MIT, DIT) and recycles iodine, a scarce element in the environment, for the efficient synthesis of thyroid hormone. Failure of this enzyme leads to the iodotyrosine deiodinase deficiency (ITDD), characterized by hypothyroidism, compressive goiter and variable mental retardation, whose diagnostic hallmark is the elevation of iodotyrosines in serum and urine. However, the specific diagnosis of this type of hypothyroidism is not routinely performed, due to technical and practical difficulties in iodotyrosine determinations. A handful of mutations in the DEHAL1 gene have been identified as the molecular basis for the ITDD. Patients harboring DEHAL1 defects so far described all belong to consanguineous families, and psychomotor deficits were present in some affected individuals. This is probably due to the lack of biochemical expression of the disease at the beginning of life, which causes ITDD being undetected in screening programs for congenital hypothyroidism, as currently performed. This worrying feature calls for efforts to improve pre-clinical detection of iodotyrosine deiodinase deficiency during the neonatal time. Such a challenge poses questions of patho-physiological (natural history of the disease, environmental factors influencing its expression) epidemiological (prevalence of ITDD) and technical nature (development of optimal methodology for safe detection of pre-clinical ITDD), which will be addressed in this review. PMID:24629858

  18. Pseudomonas aeruginosa infection in patients with cystic fibrosis: scientific evidence regarding clinical impact, diagnosis, and treatment*

    PubMed Central

    da Silva, Luiz Vicente Ribeiro Ferreira; Ferreira, Flavia de Aguiar; Reis, Francisco José Caldeira; de Britto, Murilo Carlos Amorim; Levy, Carlos Emilio; Clark, Otavio; Ribeiro, José Dirceu

    2013-01-01

    Evidence-based techniques have been increasingly used in the creation of clinical guidelines and the development of recommendations for medical practice. The use of levels of evidence allows the reader to identify the quality of scientific information that supports the recommendations made by experts. The objective of this review was to address current concepts related to the clinical impact, diagnosis, and treatment of Pseudomonas aeruginosa infections in patients with cystic fibrosis. For the preparation of this review, the authors defined a group of questions that would be answered in accordance with the principles of PICO–an acronym based on questions regarding the Patients of interest, Intervention being studied, Comparison of the intervention, and Outcome of interest. For each question, a structured review of the literature was performed using the Medline database in order to identify the studies with the methodological design most appropriate to answering the question. The questions were designed so that each of the authors could write a response. A first draft was prepared and discussed by the group. Recommendations were then made on the basis of the level of scientific evidence, in accordance with the classification system devised by the Oxford Centre for Evidence-Based Medicine, as well as the level of agreement among the members of the group. PMID:24068273

  19. Towards the pre-clinical diagnosis of hypothyroidism caused by iodotyrosine deiodinase (DEHAL1) defects.

    PubMed

    Iglesias, Ainhoa; García-Nimo, Laura; Cocho de Juan, José A; Moreno, José C

    2014-03-01

    DEHAL1 (also named IYD) is the thyroidal enzyme that deiodinates mono- and diiodotyrosines (MIT, DIT) and recycles iodine, a scarce element in the environment, for the efficient synthesis of thyroid hormone. Failure of this enzyme leads to the iodotyrosine deiodinase deficiency (ITDD), characterized by hypothyroidism, compressive goiter and variable mental retardation, whose diagnostic hallmark is the elevation of iodotyrosines in serum and urine. However, the specific diagnosis of this type of hypothyroidism is not routinely performed, due to technical and practical difficulties in iodotyrosine determinations. A handful of mutations in the DEHAL1 gene have been identified as the molecular basis for the ITDD. Patients harboring DEHAL1 defects so far described all belong to consanguineous families, and psychomotor deficits were present in some affected individuals. This is probably due to the lack of biochemical expression of the disease at the beginning of life, which causes ITDD being undetected in screening programs for congenital hypothyroidism, as currently performed. This worrying feature calls for efforts to improve pre-clinical detection of iodotyrosine deiodinase deficiency during the neonatal time. Such a challenge poses questions of patho-physiological (natural history of the disease, environmental factors influencing its expression) epidemiological (prevalence of ITDD) and technical nature (development of optimal methodology for safe detection of pre-clinical ITDD), which will be addressed in this review.

  20. CD4 Count Outperforms World Health Organization Clinical Algorithm for Point-of Care HIV Diagnosis among Hospitalized HIV-exposed Malawian Infants

    PubMed Central

    Maliwichi, Madalitso; Rosenberg, Nora E.; Macfie, Rebekah; Olson, Dan; Hoffman, Irving; van der Horst, Charles M.; Kazembe, Peter N.; Hosseinipour, Mina C.; McCollum, Eric D.

    2014-01-01

    Objective To determine, for the WHO algorithm for point-of-care diagnosis of HIV infection, the agreement levels between pediatricians and non-physician clinicians, and to compare sensitivity and specificity profiles of the WHO algorithm and different CD4 thresholds against HIV PCR testing in hospitalized Malawian infants. Methods In 2011, hospitalized HIV-exposed infants <12 months in Lilongwe, Malawi were evaluated independently with the WHO algorithm by both a pediatrician and clinical officer. Blood was collected for CD4 and molecular HIV testing (DNA or RNA PCR). Using molecular testing as the reference, sensitivity, specificity, and positive predictive value (PPV) were determined for the WHO algorithm and CD4 count thresholds of 1500 and 2000 cells/mm3 by pediatricians and clinical officers. Results We enrolled 166 infants (50% female, 34% <2 months, 37% HIV-infected). Sensitivity was higher using CD4 thresholds (<1500, 80%; <2000, 95%) than with the algorithm (physicians, 57%; clinical officers, 71%). Specificity was comparable for CD4 thresholds (<1500, 68%, <2000, 50%) and the algorithm (pediatricians, 55%, clinical officers, 50%). The positive predictive values were slightly better using CD4 thresholds (<1500, 59%, <2000, 52%) than the algorithm (pediatricians, 43%, clinical officers 45%) at this prevalence. Conclusion Performance by the WHO algorithm and CD4 thresholds resulted in many misclassifications. Point-of-care CD4 thresholds of <1500 cells/mm3 or <2000 cells/mm3 could identify more HIV-infected infants with fewer false positives than the algorithm. However, a point-of-care option with better performance characteristics is needed for accurate, timely HIV diagnosis. PMID:24754543

  1. Use of a clinical tool for screening and diagnosis of cutaneous leishmaniasis in Sri Lanka

    PubMed Central

    Siriwardana, H. V. Y. D.; Senarath, U.; Chandrawansa, P. H.; Karunaweera, N. D.

    2015-01-01

    94.7%), size ≤ 2 cm (66.9–73.7%), and regular edges (68.6–76.3%). Reliability of clinical markers generally declined in chronic lesions. However, small lesions of over 12 months were highly indicative of CL (sensitivity of 66%, specificity 66.7%). None of the single/combination markers, however, were 100% sensitive or specific, highlighting the undeniable usefulness of laboratory confirmation, in diagnosis. Decision-making algorithm used 10 basic clinical features for screening and seven specific clinical markers for clinical handling and referral for investigations. PMID:26184581

  2. Twenty-one years to the right diagnosis - clinical overlap of Simpson-Golabi-Behmel and Beckwith-Wiedemann syndrome.

    PubMed

    Knopp, C; Rudnik-Schöneborn, S; Zerres, K; Gencik, M; Spengler, S; Eggermann, T

    2015-01-01

    Clinical overlap makes the diagnosis of overgrowth syndromes challenging. Clinical overlap exists between Simpson-Golabi-Behmel syndrome (SGBS) and Beckwith-Wiedemann syndrome (BWS) which share pre- and postnatal overgrowth, macroglossia, umbilical hernia, organomegaly, ear lobe creases, and occurrence of embryonal tumors as characteristic features. Based on the clinical history of a patient, who was diagnosed with BWS shortly after birth and reassessed and rediagnosed with SGBS at age 21 years, particular attention should be paid to developing facial dysmorphia. In addition, we delineate further clinical findings that may allow differentiation between both conditions. PMID:25339544

  3. Twenty-one years to the right diagnosis - clinical overlap of Simpson-Golabi-Behmel and Beckwith-Wiedemann syndrome.

    PubMed

    Knopp, C; Rudnik-Schöneborn, S; Zerres, K; Gencik, M; Spengler, S; Eggermann, T

    2015-01-01

    Clinical overlap makes the diagnosis of overgrowth syndromes challenging. Clinical overlap exists between Simpson-Golabi-Behmel syndrome (SGBS) and Beckwith-Wiedemann syndrome (BWS) which share pre- and postnatal overgrowth, macroglossia, umbilical hernia, organomegaly, ear lobe creases, and occurrence of embryonal tumors as characteristic features. Based on the clinical history of a patient, who was diagnosed with BWS shortly after birth and reassessed and rediagnosed with SGBS at age 21 years, particular attention should be paid to developing facial dysmorphia. In addition, we delineate further clinical findings that may allow differentiation between both conditions.

  4. Current technological advances in magnetic resonance with critical impact for clinical diagnosis and therapy.

    PubMed

    Runge, Val M

    2013-12-01

    The last 5 years of technological advances with major impact on clinical magnetic resonance (MR) are discussed, with greater emphasis on those that are most recent. These developments have already had a critical positive effect on clinical diagnosis and therapy and presage continued rapid improvements for the next 5 years. This review begins with a discussion of 2 topics that encompass the breadth of MR, in terms of anatomic applications, contrast media, and MR angiography. Subsequently, innovations are discussed by anatomic category, picking the areas with the greatest development, starting with the brain, moving forward to the liver and kidney, and concluding with the musculoskeletal system, breast, and prostate. Two final topics are then considered, which will likely, with time, become independent major fields in their own right, interventional MR and MR positron emission tomography (PET).The next decade will bring a new generation of MR contrast media, with research focused on substantial improvements (>100-fold) in relaxivity (contrast effect), thus providing greater efficacy, safety, and tissue targeting. Magnetic resonance angiography will see major advances because of the use of compressed sensing, in terms of spatial and temporal resolution, with movement away from nondynamic imaging. The breadth of available techniques and tissue contrast has greatly expanded in brain imaging, benefiting both from the introduction of new basic categories of imaging techniques, such as readout-segmented echo planar imaging and 3D fast spin echo imaging with variable flip angles, and from new refinements specific to anatomic areas, such as double inversion recovery and MP2RAGE. Liver imaging has benefited from the development of techniques to easily and rapidly assess lipid, and will see, overall, a marked improvement in the next 5 years from new techniques on the verge of clinical introduction, such as controlled aliasing in parallel imaging results in higher acceleration

  5. 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.

  6. Clinical history for diagnosis of dementia in men: Caerphilly Prospective Study

    PubMed Central

    Creavin, Sam; Fish, Mark; Gallacher, John; Bayer, Antony; Ben-Shlomo, Yoav

    2015-01-01

    Background Diagnosis of dementia often requires specialist referral and detailed, time-consuming assessments. Aim To investigate the utility of simple clinical items that non-specialist clinicians could use, in addition to routine practice, to diagnose all-cause dementia syndrome. Design and setting Cross-sectional diagnostic test accuracy study. Participants were identified from the electoral roll and general practice lists in Caerphilly and adjoining villages in South Wales, UK. Method Participants (1225 men aged 45–59 years) were screened for cognitive impairment using the Cambridge Cognitive Examination, CAMCOG, at phase 5 of the Caerphilly Prospective Study (CaPS). Index tests were a standardised clinical evaluation, neurological examination, and individual items on the Informant Questionnaire for Cognitive Disorders in the Elderly (IQCODE). Results Two-hundred and five men who screened positive (68%) and 45 (4.8%) who screened negative were seen, with 59 diagnosed with dementia. The model comprising problems with personal finance and planning had an area under the curve (AUC) of 0.92 (95% confidence interval [CI] = 0.86 to 0.97), positive likelihood ratio (LR+) of 23.7 (95% CI = 5.88 to 95.6), negative likelihood ratio (LR−) of 0.41 (95% CI = 0.27 to 0.62). The best single item for ruling out was no problems learning to use new gadgets (LR− of 0.22, 95% CI = 0.11 to 0.43). Conclusion This study found that three simple questions have high utility for diagnosing dementia in men who are cognitively screened. If confirmed, this could lead to less burdensome assessment where clinical assessment suggests possible dementia. PMID:26212844

  7. Clinical phenotype and diagnosis of arrhythmogenic right ventricular cardiomyopathy in pediatric patients carrying desmosomal gene mutations

    PubMed Central

    Bauce, Barbara; Rampazzo, Alessandra; Basso, Cristina; Mazzotti, Elisa; Rigato, Ilaria; Steriotis, Alexandros; Beffagna, Giorgia; Lorenzon, Alessandra; De Bortoli, Marzia; Pilichou, Kalliopi; Marra, Martina Perazzolo; Corbetti, Francesco; Daliento, Luciano; Iliceto, Sabino; Corrado, Domenico; Thiene, Gaetano; Nava, Andrea

    2011-01-01

    Background Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart muscle disease carrying a risk of sudden death. Information about the clinical features during childhood and the age at disease onset is scanty. Objective The aim of the study was to describe the ARVC phenotype as its initial clinical manifestation in a pediatric population (<18 years) with desmosomal gene mutations. Methods Fifty-three ARVC desmosomal gene mutation carriers (mean age 12.3 ± 3.9 years) were investigated by electrocardiogram (ECG), signal-averaged ECG, 24-hour Holter, echocardiogram, and contrast-enhanced cardiac magnetic resonance (CMR). Results None of the children ≤10 years old fulfilled the 1994 criteria, as opposed to six (33%) aged 11–14 years and eight aged >14 years (42%). At the end of follow-up (9 ± 7 years), 21 (40%) fulfilled the 1994 diagnostic criteria (mean age 16 ± 4 years). By using the 2010 criteria in subjects aged ≤18 years, 53% were unaffected, versus 62% by using the traditional criteria. More than two-thirds of affected subjects had moderate-severe forms of the disease. Contrast-enhanced CMR was performed in 21 (40%); of 13 unaffected gene mutation carriers, six showed ARVC morphological and/or tissue abnormalities. Conclusion In pediatric ARVC mutation carriers, a diagnosis was achieved in 40% of cases, confirming that the disease usually develops during adolescence and young adulthood. The 2010 modified criteria seem to be more sensitive than the 1994 ones in identifying familial pediatric cases. Contrast-enhanced CMR can provide diagnostic information on gene mutation carriers not fulfilling either traditional or modified criteria. Management of asymptomatic gene mutation carriers remains the main clinical challenge. PMID:21723241

  8. Cognitive impairment 18 years before clinical diagnosis of Alzheimer disease dementia

    PubMed Central

    Wilson, Robert S.; Weuve, Jennifer; Barnes, Lisa L.; Evans, Denis A.

    2015-01-01

    Objective: To examine the relation of performance on brief cognitive tests to development of clinically diagnosed Alzheimer disease (AD) dementia over the following 18 years in a sample of African Americans and European Americans. Methods: A composite cognitive test score based on tests of episodic memory, executive function, and global cognition was constructed in a prospective population-based sample of 2,125 participants (55% African American and 61% female) aged 65 years and older residing in 4 Chicago neighborhoods. Time before AD dementia diagnosis was categorized into 6 groups corresponding to data collection periods: 0.1–0.9, 1.0–3.9, 4.0–6.9, 7.0–9.9, 10.0–12.9, and 13.0–17.9 years. Results: Of 2,125 participants without clinical AD dementia, 442 (21%) developed clinical AD dementia over 18 years of follow-up. Lower composite cognitive test scores were associated with the development of AD dementia over the duration of the study. The magnitude of association between composite cognitive test score and development of AD dementia increased from an odds ratio of 3.39 (95% confidence interval 1.72, 6.67; p < 0.001) at 13.0–17.9 years to 9.84 (95% confidence interval 7.41, 13.06; p < 0.001) at 0.1–0.9 years, per SD increment. These associations were consistently larger among European Americans than among African Americans. Performance on individual cognitive tests of episodic memory, executive function, and global cognition also significantly predicted the development of AD dementia, with associations exhibiting a similar trend over 18 years. Conclusions: Our findings suggest that cognitive impairment may manifest in the preclinical phase of AD dementia substantially earlier than previously established. PMID:26109713

  9. Intra-Genomic Internal Transcribed Spacer Region Sequence Heterogeneity and Molecular Diagnosis in Clinical Microbiology

    PubMed Central

    Zhao, Ying; Tsang, Chi-Ching; Xiao, Meng; Cheng, Jingwei; Xu, Yingchun; Lau, Susanna K. P.; Woo, Patrick C. Y.

    2015-01-01

    Internal transcribed spacer region (ITS) sequencing is the most extensively used technology for accurate molecular identification of fungal pathogens in clinical microbiology laboratories. Intra-genomic ITS sequence heterogeneity, which makes fungal identification based on direct sequencing of PCR products difficult, has rarely been reported in pathogenic fungi. During the process of performing ITS sequencing on 71 yeast strains isolated from various clinical specimens, direct sequencing of the PCR products showed ambiguous sequences in six of them. After cloning the PCR products into plasmids for sequencing, interpretable sequencing electropherograms could be obtained. For each of the six isolates, 10–49 clones were selected for sequencing and two to seven intra-genomic ITS copies were detected. The identities of these six isolates were confirmed to be Candida glabrata (n = 2), Pichia (Candida) norvegensis (n = 2), Candida tropicalis (n = 1) and Saccharomyces cerevisiae (n = 1). Multiple sequence alignment revealed that one to four intra-genomic ITS polymorphic sites were present in the six isolates, and all these polymorphic sites were located in the ITS1 and/or ITS2 regions. We report and describe the first evidence of intra-genomic ITS sequence heterogeneity in four different pathogenic yeasts, which occurred exclusively in the ITS1 and ITS2 spacer regions for the six isolates in this study. PMID:26506340

  10. Intra-Genomic Internal Transcribed Spacer Region Sequence Heterogeneity and Molecular Diagnosis in Clinical Microbiology.

    PubMed

    Zhao, Ying; Tsang, Chi-Ching; Xiao, Meng; Cheng, Jingwei; Xu, Yingchun; Lau, Susanna K P; Woo, Patrick C Y

    2015-10-22

    Internal transcribed spacer region (ITS) sequencing is the most extensively used technology for accurate molecular identification of fungal pathogens in clinical microbiology laboratories. Intra-genomic ITS sequence heterogeneity, which makes fungal identification based on direct sequencing of PCR products difficult, has rarely been reported in pathogenic fungi. During the process of performing ITS sequencing on 71 yeast strains isolated from various clinical specimens, direct sequencing of the PCR products showed ambiguous sequences in six of them. After cloning the PCR products into plasmids for sequencing, interpretable sequencing electropherograms could be obtained. For each of the six isolates, 10-49 clones were selected for sequencing and two to seven intra-genomic ITS copies were detected. The identities of these six isolates were confirmed to be Candida glabrata (n=2), Pichia (Candida) norvegensis (n=2), Candida tropicalis (n=1) and Saccharomyces cerevisiae (n=1). Multiple sequence alignment revealed that one to four intra-genomic ITS polymorphic sites were present in the six isolates, and all these polymorphic sites were located in the ITS1 and/or ITS2 regions. We report and describe the first evidence of intra-genomic ITS sequence heterogeneity in four different pathogenic yeasts, which occurred exclusively in the ITS1 and ITS2 spacer regions for the six isolates in this study.

  11. 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.

  12. Reclassification of clinical sleep disorders using traditional models of syndromic, neuroanatomic, pathophysiological and etiological diagnosis.

    PubMed

    Spitzer, A Robert

    2014-09-01

    Existing classifications of central nervous system sleep disorders do not often provide tools to diagnose the majority of patients complaining of sleep-related symptoms, nor always guide effective treatment. I present a novel classification system that completely separates clinical syndromes from anatomical localization, pathophysiology, and etiology. The clinical syndrome I present can describe the majority of patients, but can be fractionated into individual subgroups for further study. By then separating the anatomy and physiology from the symptoms, an avenue of research becomes available to study the different possible structures that regulate sleep, that may be damaged and cause syndromes of sleep dysfunction. Some of these may produce symptoms that overlap with narcolepsy and some may be distinct. Because the clinical syndrome should be distinguished from anatomy or physiology, I have proposed the term narcoleptiform syndrome for the clinical syndrome. The model also clearly separates etiology from anatomy in a classical neurological manner. This allows etiology, localization and symptoms to be studied separately. It is likely that different etiologies may produce damage in areas that produce similar syndromes. For example, in this model, different causes of damage to the orexin nucleus would result in the same clinical syndrome. This reinforces the concept of studying anatomy, symptoms and etiology separately. By studying the relationship of syndromes or symptoms to anatomic localization and pathophysiology, it should be possible to test novel approaches to treatment based on different underlying structure or function. For example, patients with lesions in the ventrolateral preoptic nucleus or the thalamic intralaminar nuclei may both present with insomnia symptoms but need different treatment; or they might present with symptoms overlapping narcolepsy (a narcoleptiform syndrome) yet need different treatment. In some cases, a single treatment may cross over

  13. Malignant mesothelioma in a cohort of asbestos insulation workers: clinical presentation, diagnosis, and causes of death.

    PubMed

    Ribak, J; Lilis, R; Suzuki, Y; Penner, L; Selikoff, I J

    1988-03-01

    Malignant mesothelioma has been rare in the general population. In recent decades its incidence has risen dramatically, parallel to the increasing use of asbestos in industry since 1930. Altogether 17,800 asbestos insulation workers, members of the International Association of Heat and Frost Insulators and Asbestos Workers (AFL-CIO-CLC) in the United States and Canada, were enrolled for prospective study on 1 January 1967 and followed up to the present. Every death that occurs is investigated by our laboratory. One hundred and seventy five deaths from mesothelioma occurred among the 2221 men who died in 1967-76 and 181 more such deaths in the next eight years. Altogether, 356 workers had died of malignant mesothelioma (pleural or peritoneal) by 1984. Diagnosis of mesothelioma was accepted only after all available clinical, radiological, and pathological material was reviewed by our laboratory and histopathological confirmation by the pathology unit made in each case. One hundred and thirty four workers died of pleural and 222 of peritoneal mesothelioma. Age at onset of exposure, age at onset of the disease, and age at death were similar in both groups of patients. Significant difference was noted only in the time elapsed from onset of exposure to the development of first symptoms, which was longer in the group with peritoneal mesothelioma. Shortness of breath, either new or recently increased, and chest pain were the most frequent presenting symptoms in the group with pleural mesothelioma; abdominal pain and distension were frequent in the patients with peritoneal mesothelioma. Pleural effusion or ascites were found in most patients. The most effective approach to the diagnosis of malignant pleural mesothelioma in these cases was by open lung biopsy; exploratory laparotomy was best for diagnosing peritoneal mesothelioma. Patients with pleural mesothelioma died principally from pulmonary insufficiency whereas those with peritoneal mesothelioma succumbed after a

  14. An international ISHLT/ATS/ERS clinical practice guideline: diagnosis and management of bronchiolitis obliterans syndrome.

    PubMed

    Meyer, Keith C; Raghu, Ganesh; Verleden, Geert M; Corris, Paul A; Aurora, Paul; Wilson, Kevin C; Brozek, Jan; Glanville, Allan R

    2014-12-01

    Bronchiolitis obliterans syndrome (BOS) is a major complication of lung transplantation that is associated with poor survival. The International Society for Heart and Lung Transplantation, American Thoracic Society, and European Respiratory Society convened a committee of international experts to describe and/or provide recommendations for 1) the definition of BOS, 2) the risk factors for developing BOS, 3) the diagnosis of BOS, and 4) the management and prevention of BOS. A pragmatic evidence synthesis was performed to identify all unique citations related to BOS published from 1980 through to March, 2013. The expert committee discussed the available research evidence upon which the updated definition of BOS, identified risk factors and recommendations are based. The committee followed the GRADE (Grading of Recommendation, Assessment, Development and Evaluation) approach to develop specific clinical recommendations. The term BOS should be used to describe a delayed allograft dysfunction with persistent decline in forced expiratory volume in 1 s that is not caused by other known and potentially reversible causes of post-transplant loss of lung function. The committee formulated specific recommendations about the use of systemic corticosteroids, cyclosporine, tacrolimus, azithromycin and about re-transplantation in patients with suspected and confirmed BOS. The diagnosis of BOS requires the careful exclusion of other post-transplant complications that can cause delayed lung allograft dysfunction, and several risk factors have been identified that have a significant association with the onset of BOS. Currently available therapies have not been proven to result in significant benefit in the prevention or treatment of BOS. Adequately designed and executed randomised controlled trials that properly measure and report all patient-important outcomes are needed to identify optimal therapies for established BOS and effective strategies for its prevention.

  15. Malignant mesothelioma in a cohort of asbestos insulation workers: clinical presentation, diagnosis, and causes of death.

    PubMed Central

    Ribak, J; Lilis, R; Suzuki, Y; Penner, L; Selikoff, I J

    1988-01-01

    Malignant mesothelioma has been rare in the general population. In recent decades its incidence has risen dramatically, parallel to the increasing use of asbestos in industry since 1930. Altogether 17,800 asbestos insulation workers, members of the International Association of Heat and Frost Insulators and Asbestos Workers (AFL-CIO-CLC) in the United States and Canada, were enrolled for prospective study on 1 January 1967 and followed up to the present. Every death that occurs is investigated by our laboratory. One hundred and seventy five deaths from mesothelioma occurred among the 2221 men who died in 1967-76 and 181 more such deaths in the next eight years. Altogether, 356 workers had died of malignant mesothelioma (pleural or peritoneal) by 1984. Diagnosis of mesothelioma was accepted only after all available clinical, radiological, and pathological material was reviewed by our laboratory and histopathological confirmation by the pathology unit made in each case. One hundred and thirty four workers died of pleural and 222 of peritoneal mesothelioma. Age at onset of exposure, age at onset of the disease, and age at death were similar in both groups of patients. Significant difference was noted only in the time elapsed from onset of exposure to the development of first symptoms, which was longer in the group with peritoneal mesothelioma. Shortness of breath, either new or recently increased, and chest pain were the most frequent presenting symptoms in the group with pleural mesothelioma; abdominal pain and distension were frequent in the patients with peritoneal mesothelioma. Pleural effusion or ascites were found in most patients. The most effective approach to the diagnosis of malignant pleural mesothelioma in these cases was by open lung biopsy; exploratory laparotomy was best for diagnosing peritoneal mesothelioma. Patients with pleural mesothelioma died principally from pulmonary insufficiency whereas those with peritoneal mesothelioma succumbed after a

  16. Anal cancer: ESMO-ESSO-ESTRO clinical practice guidelines for diagnosis, treatment and follow-up.

    PubMed

    Glynne-Jones, R; Nilsson, P J; Aschele, C; Goh, V; Peiffert, D; Cervantes, A; Arnold, D

    2014-10-01

    Squamous cell carcinoma of the anus (SCCA) is a rare cancer but its incidence is increasing throughout the world, and is particularly high in the human immunodeficiency virus positive (HIV+) population. A multidisciplinary approach is mandatory (involving radiation therapists, medical oncologists, surgeons, radiologists and pathologists). SCCA usually spreads in a loco-regional manner within and outside the anal canal. Lymph node involvement at diagnosis is observed in 30%-40% of cases while systemic spread is uncommon with distant extrapelvic metastases recorded in 5%-8% at onset, and rates of metastatic progression after primary treatment between 10 and 20%. SCCA is strongly associated with human papilloma virus (HPV, types 16-18) infection. The primary aim of treatment is to achieve cure with loco-regional control and preservation of anal function, with the best possible quality of life. Treatment dramatically differs from adenocarcinomas of the lower rectum. Combinations of 5FU-based chemoradiation and other cytotoxic agents (mitomycin C) have been established as the standard of care, leading to complete tumour regression in 80%-90% of patients with locoregional failures in the region of 15%. There is an accepted role for surgical salvage. Assessment and treatment should be carried out in specialised centres treating a high number of patients as early as possible in the clinical diagnosis. To date, the limited evidence from only 6 randomised trials [1,2,3,4,5,6,7], the rarity of the cancer, and the different behaviour/natural history depending on the predominant site of origin, (the anal margin, anal canal or above the dentate line) provide scanty direction for any individual oncologist. Here we aim to provide guidelines which can assist medical, radiation and surgical oncologists in the practical management of this unusual cancer. PMID:25239441

  17. Anal cancer: ESMO-ESSO-ESTRO clinical practice guidelines for diagnosis, treatment and follow-up.

    PubMed

    Glynne-Jones, Robert; Nilsson, Per J; Aschele, Carlo; Goh, Vicky; Peiffert, Didier; Cervantes, Andrés; Arnold, Dirk

    2014-06-01

    Squamous cell carcinoma of the anus (SCCA) is a rare cancer but its incidence is increasing throughout the world, and is particularly high in the human immunodeficiency virus positive (HIV+) population. A multidisciplinary approach is mandatory (involving radiation therapists, medical oncologists, surgeons, radiologists and pathologists). SCCA usually spreads in a loco-regional manner within and outside the anal canal. Lymph node involvement at diagnosis is observed in 30-40% of cases while systemic spread is uncommon with distant extrapelvic metastases recorded in 5-8% at onset, and rates of metastatic progression after primary treatment between 10% and 20%. SCCA is strongly associated with human papilloma virus (HPV, types 16-18) infection. The primary aim of treatment is to achieve cure with loco-regional control and preservation of anal function, with the best possible quality of life. Treatment dramatically differs from adenocarcinomas of the lower rectum. Combinations of 5FU-based chemoradiation and other cytotoxic agents (mitomycin C) have been established as the standard of care, leading to complete tumour regression in 80-90% of patients with locoregional failures in the region of 15%. There is an accepted role for surgical salvage. Assessment and treatment should be carried out in specialised centres treating a high number of patients as early as possible in the clinical diagnosis. To date, the limited evidence from only 6 randomised trials [1,2,3,4,5,6,7], the rarity of the cancer, and the different behaviour/natural history depending on the predominant site of origin, (the anal margin, anal canal or above the dentate line) provide scanty direction for any individual oncologist. Here we aim to provide guidelines which can assist medical, radiation and surgical oncologists in the practical management of this unusual cancer. PMID:24947004

  18. Polymerase chain reaction amplifying mycobacterial DNA from aspirates obtained by endoscopic ultrasound allows accurate diagnosis of mycobacterial disease in HIV-positive patients with abdominal lymphadenopathy.

    PubMed

    Nieuwoudt, Martin; Lameris, Roeland; Corcoran, Craig; Rossouw, Theresa M; Slavik, Tomas; Du Plessis, Johannie; Omoshoro-Jones, Jones A O; Stivaktas, Paraskevi; Potgieter, Fritz; Van der Merwe, Schalk W

    2014-09-01

    Abdominal lymphadenopathy in human immunodeficiency virus (HIV) infection remains a diagnostic challenge. We performed a prospective cohort study by recruiting 31 symptomatic HIV + patients with abdominal lymphadenopathy and assessing the diagnostic yield of endoscopic ultrasound fine-needle aspiration (EUS-FNA). Mean age was 38 years; 52% were female; and mean CD4 count and viral load were 124 cells/μL and 4 log, respectively. EUS confirmed additional mediastinal nodes in 26%. The porta hepatis was the most common abdominal site. Aspirates obtained by EUS-FNA were subjected to cytology, culture and polymerase chain reaction (PCR) analysis. Mycobacterial infections were confirmed in 67.7%, and 31% had reactive lymphadenopathy. Cytology and culture had low sensitivity, whereas PCR identified 90% of mycobacterial infections. By combining the appearance of aspirates obtained by EUS-FNA and cytologic specimens, we developed a diagnostic algorithm to indicate when analysis with PCR would be useful. PCR performed on material obtained by EUS-FNA was highly accurate in confirming mycobacterial disease and determining genotypic drug resistance.

  19. A Highly Sensitive Porous Silicon (P-Si)-Based Human Kallikrein 2 (hK2) Immunoassay Platform toward Accurate Diagnosis of Prostate Cancer.

    PubMed

    Lee, Sang Wook; Hosokawa, Kazuo; Kim, Soyoun; Jeong, Ok Chan; Lilja, Hans; Laurell, Thomas; Maeda, Mizuo

    2015-05-22

    Levels of total human kallikrein 2 (hK2), a protein involved the pathology of prostate cancer (PCa), could be used as a biomarker to aid in the diagnosis of this disease. In this study, we report on a porous silicon antibody immunoassay platform for the detection of serum levels of total hK2. The surface of porous silicon has a 3-dimensional macro- and nanoporous structure, which offers a large binding capacity for capturing probe molecules. The tailored pore size of the porous silicon also allows efficient immobilization of antibodies by surface adsorption, and does not require chemical immobilization. Monoclonal hK2 capture antibody (6B7) was dispensed onto P-Si chip using a piezoelectric dispenser. In total 13 × 13 arrays (169 spots) were spotted on the chip with its single spot volume of 300 pL. For an optimization of capture antibody condition, we firstly performed an immunoassay of the P-Si microarray under a titration series of hK2 in pure buffer (PBS) at three different antibody densities (75, 100 and 145 µg/mL). The best performance of the microarray platform was seen at 100 µg/mL of the capture antibody concentration (LOD was 100 fg/mL). The platform then was subsequently evaluated for a titration series of serum-spiked hK2 samples. The developed platform utilizes only 15 µL of serum per test and the total assay time is about 3 h, including immobilization of the capture antibody. The detection limit of the hK2 assay was 100 fg/mL in PBS buffer and 1 pg/mL in serum with a dynamic range of 106 (10(-4) to 10(2) ng/mL).

  20. Performance of Clinical Signs in the Diagnosis of Dehydration in Children with Acute Gastroenteritis

    PubMed Central

    Hoxha, Teuta; Xhelili, Luan; Azemi, Mehmedali; Avdiu, Muharrem; Ismaili-Jaha, Vlora; Efendija-Beqa, Urata; Grajcevci-Uka, Violeta

    2015-01-01

    Background: Acute evaluation and treatment of children presenting with dehydration represent one of the most common situation in the pediatric emergency department. To identify dehydration in infants and children before treatment, a number of symptoms and clinical signs have been evaluated. The aim of the study was to describe the performance of clinical signs in detecting dehydration in children. Methods: Two hundred children aged 1 month to 5 year were involved in our prospective study. The clinical assessment consisted of the ten clinical signs of dehydration, including those recommended by WHO (World Health Organization), heart rate, and capillary refill time. Results: Two hundred patients with diarrhea were enrolled in the study. The mean age was 15.62±9.03 months and 57.5% were male. Of these 121 had a fluid deficit of < 5%, 68 had a deficit of 5 to 9% and 11(5.5%) had a deficit of 10% or more. Patients classified as having no or mild, moderate, and severe dehydration were found to have the following respective gains in percent weight at the end of illness: 2.44±0.3, 6.05± 1.01 and, 10.66± 0.28, respectively. All clinical signs were found more frequently with increasing amounts of dehydration(p<0.001, One–way ANOVA). The median number of findings among subjects with no or mild dehydration (deficit <5%) was 3; among those with moderate dehydration (deficit 5% to 9%) was 6.5 and among those with severe dehydration (deficit >10%) the median was 9 (p<0.0001, Kruskal-Wallis test). Using stepwise linear regression and a p value of <0.05 for entry into the model, a four-variable model including sunken eyes, skin elasticity, week radial pulse, and general appearance was derived. Conclusion: None of the 10 findings studied, is sufficiently accurate to be used in isolation. When considered together, sunken eyes, decreased skin turgor, weak pulse and general appearance provide the best explanatory power of the physical signs considered. PMID:25870468

  1. Spectroscopic Study of Human Teeth and Blood from Visible to Terahertz Frequencies for Clinical Diagnosis of Dental Pulp Vitality

    NASA Astrophysics Data System (ADS)

    Hirmer, Marion; Danilov, Sergey N.; Giglberger, Stephan; Putzger, Jürgen; Niklas, Andreas; Jäger, Andreas; Hiller, Karl-Anton; Löffler, Susanne; Schmalz, Gottfried; Redlich, Britta; Schulz, Irene; Monkman, Gareth; Ganichev, Sergey D.

    2012-03-01

    Transmission spectra of wet human teeth and dentin slices, together with blood of different flow rates were investigated. The measurements carried out over a wide spectral range, from visible light down to terahertz radiation. The results make it possible to find the optimum light frequency for an all-optical determination of pulpal blood flow and, consequently, for clinically diagnosis of tooth vitality.

  2. CBCL Clinical Scales Discriminate ADHD Youth with Structured-Interview Derived Diagnosis of Oppositional Defiant Disorder (ODD)

    ERIC Educational Resources Information Center

    Biederman, Joseph; Ball, Sarah W.; Monuteaux, Michael C.; Kaiser, Roselinde; Faraone, Stephen V.

    2008-01-01

    Objective: To evaluate the association between the clinical scales of the child behavior checklist (CBCL) and the comorbid diagnosis of oppositional defiant disorder (ODD) in a large sample of youth with attention deficit hyperactivity disorder (ADHD). Method: The sample consisted of 101 girls and 106 boys ages 6 to 17 with ADHD. Conditional…

  3. An image-analysis system based on support vector machines for automatic grade diagnosis of brain-tumour astrocytomas in clinical routine.

    PubMed

    Glotsos, D; Spyridonos, P; Cavouras, D; Ravazoula, P; Dadioti, P Arapantoni; Nikiforidis, G

    2005-09-01

    An image-analysis system based on the concept of Support Vector Machines (SVM) was developed to assist in grade diagnosis of brain tumour astrocytomas in clinical routine. One hundred and forty biopsies of astrocytomas were characterized according to the WHO system as grade II, III and IV. Images from biopsies were digitized, and cell nuclei regions were automatically detected by encoding texture variations in a set of wavelet, autocorrelation and parzen estimated descriptors and using an unsupervised SVM clustering methodology. Based on morphological and textural nuclear features, a decision-tree classification scheme distinguished between different grades of tumours employing an SVM classifier. The system was validated for clinical material collected from two different hospitals. On average, the SVM clustering algorithm correctly identified and accurately delineated 95% of all nuclei. Low-grade tumours were distinguished from high-grade tumours with an accuracy of 90.2% and grade III from grade IV with an accuracy of 88.3% The system was tested in a new clinical data set, and the classification rates were 87.5 and 83.8%, respectively. Segmentation and classification results are very encouraging, considering that the method was developed based on every-day clinical standards. The proposed methodology might be used in parallel with conventional grading to support the regular diagnostic procedure and reduce subjectivity in astrocytomas grading. PMID:16403707

  4. APOE4 carriers and non-carriers with the clinical diagnosis of Alzheimer’s dementia and minimal amyloid plaques

    PubMed Central

    Monsell, Sarah E.; Kukull, Walter A.; Roher, Alex E.; Maarouf, Chera L.; Serrano, Geidy; Beach, Thomas G.; Caselli, Richard J.; Montine, Thomas J.; Reiman, Eric M.

    2016-01-01

    Importance Amyloid-β (Aβ) plaques are a cardinal neuropathological feature of Alzheimer’s disease (AD), yet over a third of apolipoprotein E ε4 (APOE4) non-carriers with the clinical diagnosis of mild-to-moderate Alzheimer’s dementia may not meet positron emission tomography (PET) criteria for significant cerebral amyloidosis. Objective This study sought to clarify the percentage of APOE4 carriers and non-carriers with the primary clinical diagnosis of mild-to-moderate Alzheimer’s dementia near the end of life and minimal Aβ plaques at autopsy—and the extent to which these cases are associated with appreciable neurofibrillary degeneration or a primary neuropathologic diagnosis other than AD. Design Participants in this study were obtained from the National Alzheimer’s Coordinating Center’s Uniform Data Set (UDS). Setting The UDS comprises longitudinal clinical assessments performed at the Alzheimer's Disease Centers funded by the National Institute on Aging. Neuropathology data is available for the subset of expired participants. Participants Exactly 100 APOE4 non-carriers and 100 carriers had the primary clinical diagnosis of mild-to-moderate Alzheimer’s dementia at their last visit, known APOE4 genotype, died within the ensuing 24 months, and underwent neuropathologic evaluation. Main Outcomes and Measures Standardized histopathologic assessments of Alzheimer’s disease neuropathologic changes were the primary measures of interest in this study, specifically CERAD neuritic plaque density score, diffuse plaque density score, and Braak stage for neurofibrillary degeneration. Results 37% of APOE4 non-carriers and 13% of carriers with the primary clinical diagnosis of mild-to-moderate Alzheimer’s dementia had nonexistent or sparse neuritic plaques. 44% of the carriers and non-carriers with minimal neuritic plaques had Braak stage III–VI ratings and 38% met neuropathological criteria for other dementia-related diseases. Conclusions and relevance

  5. Importance of laboratory clinical investigation in the diagnosis of immune vasculitis with neurological manifestation.

    PubMed

    Hagenah, R; Senff, S H

    1984-01-01

    In this study 23 cases of immune vasculitis with predominance of neurological symptoms were analysed. Besides patient history and neurological examination, myelotomy is the most relevant means of diagnosis in immune vasculitis. For this reason myelotomy should be integrated in routine diagnostic methods if the diagnosis immune vasculitis is discussed. Other laboratory parameters have no great relevance in the diagnosis of immune vasculitis. A higher specificity of antibody tests, especially in the case of ANA, might be able to replace myelotomy in the diagnosis of immune vasculitis. The relevance of laboratory parameters in the diagnosis of immune vasculitis in neurological patients was examined.

  6. Clinical features and differential diagnosis of pituitary tumours with emphasis on acromegaly.

    PubMed

    Hennessey, J V; Jackson, I M

    1995-04-01

    Pituitary adenomas are frequently encountered, benign intracranial tumours. Clinically classified according to their capacity to produce and secrete hormones, pituitary tumours are diagnosed from the clinical manifestations and biochemical findings of specific pituitary hormone overproduction or of impaired pituitary function due to pressure on normal pituitary cells, the pituitary stalk or the hypothalamus. Additionally, the tumour may result in neurological manifestations due to its effect as an intracranial space-occupying lesion. Pituitary adenomas may present acutely with pituitary apoplexy after intrapituitary haemorrhage or infarction. The subsequent hypofunction of the pituitary with concomitant neurological sequelae of an expanding intracranial mass are often associated with excruciating headache, diplopia and visual field defects. Gradually developing neurological deficits or secondary endocrine failure over several years may precede the recognition of non-secretory tumours (30-40% of pituitary adenomas) as well as some of the hormone-producing adenomas, especially when they expand beyond the confines of the sella turcica. Asymptomatic masses occur in the pituitary in 5-27% of unselected autopsy series. About 10-20% of pituitaries imaged as part of a brain study contain lesions 'consistent with a pituitary adenoma', with about half being pituitary adenomas ('incidentalomas'). Many advocate screening such cases for a wide spectrum of pituitary function abnormalities. Clinical judgement should be utilized to determine the extent of the work-up and the frequency of follow-up. Acromegaly, a clinical syndrome caused by excess growth hormone secretion, accounts for one-sixth of resected pituitary tumours. This disorder leads to chronic progressive disability and a shortened life span, with approximately 50% of untreated acromegalic patients experiencing premature death. The prevalence of acromegaly has been estimated to range from 50 to 70 per million, with the

  7. Clinical features and differential diagnosis of pituitary tumours with emphasis on acromegaly.

    PubMed

    Hennessey, J V; Jackson, I M

    1995-04-01

    Pituitary adenomas are frequently encountered, benign intracranial tumours. Clinically classified according to their capacity to produce and secrete hormones, pituitary tumours are diagnosed from the clinical manifestations and biochemical findings of specific pituitary hormone overproduction or of impaired pituitary function due to pressure on normal pituitary cells, the pituitary stalk or the hypothalamus. Additionally, the tumour may result in neurological manifestations due to its effect as an intracranial space-occupying lesion. Pituitary adenomas may present acutely with pituitary apoplexy after intrapituitary haemorrhage or infarction. The subsequent hypofunction of the pituitary with concomitant neurological sequelae of an expanding intracranial mass are often associated with excruciating headache, diplopia and visual field defects. Gradually developing neurological deficits or secondary endocrine failure over several years may precede the recognition of non-secretory tumours (30-40% of pituitary adenomas) as well as some of the hormone-producing adenomas, especially when they expand beyond the confines of the sella turcica. Asymptomatic masses occur in the pituitary in 5-27% of unselected autopsy series. About 10-20% of pituitaries imaged as part of a brain study contain lesions 'consistent with a pituitary adenoma', with about half being pituitary adenomas ('incidentalomas'). Many advocate screening such cases for a wide spectrum of pituitary function abnormalities. Clinical judgement should be utilized to determine the extent of the work-up and the frequency of follow-up. Acromegaly, a clinical syndrome caused by excess growth hormone secretion, accounts for one-sixth of resected pituitary tumours. This disorder leads to chronic progressive disability and a shortened life span, with approximately 50% of untreated acromegalic patients experiencing premature death. The prevalence of acromegaly has been estimated to range from 50 to 70 per million, with the

  8. Accuracy of screening compression ultrasonography and clinical examination for the diagnosis of deep vein thrombosis after total hip or knee arthroplasty

    PubMed Central

    Robinson, K. Sue; Anderson, David R.; Gross, Michael; Petrie, David; Leighton, Ross; Stanish, William; Alexander, David; Mitchell, Michael; Mason, William; Flemming, Bruce; Fairhurst-Vaughan, Marlene; Gent, Michael

    1998-01-01

    Objective To determine whether compression ultrasonography or clinical examination should be considered as screening tests for the diagnosis of deep vein thrombosis (DVT) after total hip or knee arthroplasty in patients receiving warfarin prophylaxis postoperatively. Design A prospective cohort study. Setting A single tertiary care orthopedic centre. Patients One hundred and eleven patients who underwent elective total hip or knee arthroplasty were enrolled. Postoperatively the warfarin dose was adjusted daily to maintain the international normalized ratio between 1.8 and 2.5. Eighty-six patients successfully completed the study protocol. Intervention Before they were discharged from hospital, patients were assessed for DVT by clinical examination, bilateral compression ultrasonography of the proximal venous system and bilateral contrast venography. Results DVT was found in 29 patients (34%; 95% confidence interval [CI] 24% to 45%), and 6 patients (7%; 95% CI 3% to 15%) had proximal DVT. DVT developed in 18 (40%) of 45 patients who underwent total knee arthroplasty and in 11 (27%) of 41 patients who underwent total hip arthroplasty. The sensitivity of compression ultrasonography for the diagnosis of proximal DVT was 83% (95% CI 36% to 99%) and the specificity was 98% (95% CI 91% to 99%). The positive predictive value of compression ultrasonography was 71%. In contrast, clinical examination for DVT had a sensitivity of 11% (95% CI 2% to 28%) and a positive predictive value of 25%. Conclusions DVT is a common complication after total hip or knee arthroplasty. Compression ultrasonography appears to be a relatively accurate noninvasive test for diagnosing postoperative proximal DVT. In contrast, clinical examination is a very insensitive test. Whether routine use of screening compression ultrasonography will reduce the morbidity of venous thromboembolism after joint arthroplasty requires confirmation in a prospective trial involving long-term follow-up of patients

  9. Congenital cytomegalovirus infection in pregnancy: a review of prevalence, clinical features, diagnosis and prevention.

    PubMed

    Naing, Zin W; Scott, Gillian M; Shand, Antonia; Hamilton, Stuart T; van Zuylen, Wendy J; Basha, James; Hall, Beverly; Craig, Maria E; Rawlinson, William D

    2016-02-01

    Human cytomegalovirus (CMV) is under-recognised, despite being the leading infectious cause of congenital malformation, affecting ~0.3% of Australian live births. Approximately 11% of infants born with congenital CMV infection are symptomatic, resulting in clinical manifestations, including jaundice, hepatosplenomegaly, petechiae, microcephaly, intrauterine growth restriction and death. Congenital CMV infection may cause severe long-term sequelae, including progressive sensorineural hearing loss and developmental delay in 40-58% of symptomatic neonates, and ~14% of initially asymptomatic infected neonates. Up to 50% of maternal CMV infections have nonspecific clinical manifestations, and most remain undetected unless specific serological testing is undertaken. The combination of serology tests for CMV-specific IgM, IgG and IgG avidity provide improved distinction between primary and secondary maternal infections. In pregnancies with confirmed primary maternal CMV infection, amniocentesis with CMV-PCR performed on amniotic fluid, undertaken after 21-22 weeks gestation, may determine whether maternofetal virus transmission has occurred. Ultrasound and, to a lesser extent, magnetic resonance imaging are valuable tools to assess fetal structural and growth abnormalities, although the absence of fetal abnormalities does not exclude fetal damage. Diagnosis of congenital CMV infection at birth or in the first 3 weeks of an infant's life is crucial, as this should prompt interventions for prevention of delayed-onset hearing loss and neurodevelopmental delay in affected infants. Prevention strategies should also target mothers because increased awareness and hygiene measures may reduce maternal infection. Recognition of the importance of CMV in pregnancy and in neonates is increasingly needed, particularly as therapeutic and preventive interventions expand for this serious problem.

  10. Using experts feedback in clinical case resolution and arbitration as accuracy diagnosis methodology.

    PubMed

    Rodríguez-González, Alejandro; Torres-Niño, Javier; Valencia-Garcia, Rafael; Mayer, Miguel A; Alor-Hernandez, Giner

    2013-09-01

    This paper proposes a new methodology for assessing the efficiency of medical diagnostic systems and clinical decision support systems by using the feedback/opinions of medical experts. The methodology behind this work is based on a comparison between the expert feedback that has helped solve different clinical cases and the expert system that has evaluated these same cases. Once the results are returned, an arbitration process is carried out in order to ensure the correctness of the results provided by both methods. Once this process has been completed, the results are analyzed using Precision, Recall, Accuracy, Specificity and Matthews Correlation Coefficient (MCC) (PRAS-M) metrics. When the methodology is applied, the results obtained from a real diagnostic system allow researchers to establish the accuracy of the system based on objective facts. The methodology returns enough information to analyze the system's behavior for each disease in the knowledge base or across the entire knowledge base. It also returns data on the efficiency of the different assessors involved in the evaluation process, analyzing their behavior in the diagnostic process. The proposed work facilitates the evaluation of medical diagnostic systems, having a reliable process based on objective facts. The methodology presented in this research makes it possible to identify the main characteristics that define a medical diagnostic system and their values, allowing for system improvement. A good example of the results provided by the application of the methodology is shown in this paper. A diagnosis system was evaluated by means of this methodology, yielding positive results (statistically significant) when comparing the system with the assessors that participated in the evaluation process of the system through metrics such as recall (+27.54%) and MCC (+32.19%). These results demonstrate the real applicability of the methodology used.

  11. Brugada syndrome in the paediatric population: a comprehensive approach to clinical manifestations, diagnosis, and management.

    PubMed

    Gonzalez Corcia, M Cecilia; de Asmundis, Carlo; Chierchia, Gian-Battista; Brugada, Pedro

    2016-08-01

    Brugada syndrome is an inherited arrhythmogenic disorder, characterised by coved-type ST-segment elevation in the right precordial leads, and is associated with increased risk of sudden death. It is genetically and clinically heterogeneous, presenting typically in the fourth or fifth decade of life. The prevalence of Brugada syndrome in the paediatric population is low compared with the adult population. Interestingly, over the last several years, there has been growing evidence in the literature of onset of the disease during childhood. Most of the paediatric cases reported in the literature consist of asymptomatic Brugada syndrome; however, some patients manifest the disease at different regions of the cardiac conduction system at a young age. Early expression of the disease can be affected by multiple factors, including genetic substrate, hormonal changes, and still unknown environmental exposures. The initial manifestation of Brugada syndrome in children can include sinus node dysfunction and atrial arrhythmias. Brugada syndrome can also manifest as ventricular arrhythmias leading to sudden death at an early age. In symptomatic children, performance of the ajmaline test by an experienced team can be safely used as a diagnostic tool to unmask latent Brugada syndrome. Defining indications for an implantable cardioverter defibrillator in children with the diagnosis of Brugada syndrome remains challenging. Given the rarity of the syndrome in children, most paediatric cardiologists will only rarely see a young patient with Brugada syndrome and there is still no universal consensus regarding the optimal management approach. Care should be individualised according to the specific clinical presentation, taking into account the family history, genetic data, and the family's specific preferences. PMID:27151277

  12. Exposure of Prebiopsy Antibiotics Influence Bacteriological Diagnosis and Clinical Outcomes in Patients With Infectious Spondylitis

    PubMed Central

    Wang, Ying-Chih; Wong, Chak-Bor; Wang, I-Chun; Fu, Tsai-Sheng; Chen, Lih-Huei; Chen, Wen-Jer

    2016-01-01

    Abstract The benefit of prebiopsy empirical antibiotics for patients with infectious spondylitis and the effect on clinical outcome are not well known. This study assessed the impact of prebiopsy empirical antibiotics in patients with infectious spondylitis. We retrospectively reviewed 41 adult in-patients with infectious spondylitis who received percutaneous endoscopic debridement and drainage (PEDD) at a tertiary care hospital from August 2002 to August 2012. The average patient age was 55.2 years old and causative bacteria were identified in 32 out of 41 biopsy specimens (78.0%) via the PEDD procedure, which has good diagnostic efficacy comparable to open biopsy. Seventeen patients (41.5%) received prebiopsy empirical antimicrobial therapy, and these patients were less likely to have positive cultures than those who did not receive preoperative antibiotics (64.7% vs 87.5%, P = 0.04). Patients with positive cultures had a better infection control rate (78.1% vs 67.7%) and were less likely to undergo subsequent open surgery. Patients given preoperative antibiotics were more likely to need subsequent open surgery (35.3% vs 16.7%, P = 0.02). From multivariate logistic analysis showed age at diagnosis to be an independent risk factor for the need of further surgery. There were no major complications following the PEDD procedure, except 2 patients had transient paresthesia in the affected lumbar segments. Prebiopsy empirical antibiotic therapy was associated with lower positive culture rate and an increased need for subsequent open surgery. Patients with positive cultures were more likely to have initially adequate treatment, better infection control, and better clinical outcome. PMID:27082590

  13. A survey of clinical practice patterns in diagnosis and management of Cushing's disease in Iran

    PubMed Central

    Malek, Mojtaba; Esfehanian, Fatemeh; Amouzegar, Atieh; Sarvghadi, Farzaneh; Moossavi, Zohreh; Mohajeri-Tehrani, Mohammad R.; Khamseh, Mohammad E.; Amirbaigloo, Alireza; Ebrahim Valojerdi, Ameneh

    2016-01-01

    Background: Cushing's disease is the most prevalent cause of endogenous adrenocorticotrophic hormone hypersecretion. The aim of this study was to document the current clinical practice pattern in the management of Cushing's disease by Iranian Endocrinologists to determine their opinions and compare them with the current clinical practice guidelines. Methods: An eight-item questionnaire dealing with diagnosis, treatment and follow up of patients with Cushing's disease was developed, piloted, and sent to the members of Iranian Endocrinology Society. Results: Among 90 endocrinologists invited to participate in the survey, 76 replied. Most respondents selected overnight dexamethasone suppression test (ONDST) and assessment of 24-hour urinary free cortisol (UFC) as the best screening tests followed by midnight serum cortisol and midnight salivary cortisol. Classic high dose dexamethasone suppression test and measurement of serum ACTH were selected for localization of the primary lesion by 64.5%. The primary choice of treatment was trans-sphenoidal pituitary surgery (86.8%). For the recurrence of Cushing's disease, the preferred treatment modality was medical therapy followed by bilateral adrenalectomy, and pituitary re-surgery. In case of treatment failure after the first pituitary surgery and ketoconazole treatment, 51% chose bilateral adrenalectomy, while36.8% selected pasireotide only. Conclusion: ONDST and UFC are two most common tests used to screen an index case with signs and symptoms of hypercortisolism. The primary choice of treatment in Cushing's disease is pituitary surgery. However, medical treatment by ketokonazol is preferred for the recurrences. Pasireotide is the second alternative after bilateral adrenalectomy in case of treatment failure after pituitary surgery and ketoconazole. PMID:27390704

  14. Congenital cytomegalovirus infection in pregnancy: a review of prevalence, clinical features, diagnosis and prevention.

    PubMed

    Naing, Zin W; Scott, Gillian M; Shand, Antonia; Hamilton, Stuart T; van Zuylen, Wendy J; Basha, James; Hall, Beverly; Craig, Maria E; Rawlinson, William D

    2016-02-01

    Human cytomegalovirus (CMV) is under-recognised, despite being the leading infectious cause of congenital malformation, affecting ~0.3% of Australian live births. Approximately 11% of infants born with congenital CMV infection are symptomatic, resulting in clinical manifestations, including jaundice, hepatosplenomegaly, petechiae, microcephaly, intrauterine growth restriction and death. Congenital CMV infection may cause severe long-term sequelae, including progressive sensorineural hearing loss and developmental delay in 40-58% of symptomatic neonates, and ~14% of initially asymptomatic infected neonates. Up to 50% of maternal CMV infections have nonspecific clinical manifestations, and most remain undetected unless specific serological testing is undertaken. The combination of serology tests for CMV-specific IgM, IgG and IgG avidity provide improved distinction between primary and secondary maternal infections. In pregnancies with confirmed primary maternal CMV infection, amniocentesis with CMV-PCR performed on amniotic fluid, undertaken after 21-22 weeks gestation, may determine whether maternofetal virus transmission has occurred. Ultrasound and, to a lesser extent, magnetic resonance imaging are valuable tools to assess fetal structural and growth abnormalities, although the absence of fetal abnormalities does not exclude fetal damage. Diagnosis of congenital CMV infection at birth or in the first 3 weeks of an infant's life is crucial, as this should prompt interventions for prevention of delayed-onset hearing loss and neurodevelopmental delay in affected infants. Prevention strategies should also target mothers because increased awareness and hygiene measures may reduce maternal infection. Recognition of the importance of CMV in pregnancy and in neonates is increasingly needed, particularly as therapeutic and preventive interventions expand for this serious problem. PMID:26391432

  15. [Anaphylaxis as part of a clinical diagnosis of mastocytosi - case demonstration].

    PubMed

    Stobiecki, Marcin; Sacha, Małgorzata; Czarnobilska, Ewa

    2015-01-01

    Mastocytosis is a heterogeneous group of diseases characterized by excessive proliferation and accumulation of mast cells--in one or more organs. The number of symptoms and clinical prognosis vary depending on the disease. One of the most severe potential outcome of mastocytosis is anaphylactic shock. Early diagnosis and identification of triggers enables education and avoidance them. We describe the case of a 31-year-old woman with systemic mastocytosis (SM) without skin symptoms with multiple anaphylactic reactions, including two severe. Systemic mastocytosis was confirmed in bone marrow and genetic studies. We identify allergic triggers: latex and cefuroxime and also other non-immunological triggers as non-steroidal anti-inflammatory drugs (NSAIDs). The patient never had any allergic reaction after Hymenoptera stings. Only one result of serum tryptase was elevated. There was a need to determine the safety of antibiotic use and anesthetic drugs before cesarean. The moment when the disease was diagnosed and triggers were identifie, helped avoid further severe reactions. PMID:27024961

  16. Re-Emergence of Zika Virus: A Review on Pathogenesis, Clinical Manifestations, Diagnosis, Treatment, and Prevention.

    PubMed

    Shuaib, Waqas; Stanazai, Hashim; Abazid, Ahmad G; Mattar, Ahmed A

    2016-08-01

    Zika virus (ZKV) is an arbovirus of the Flaviviridae family, which includes West Nile, dengue fever, yellow fever, and Japanese encephalitis virus. It is transmitted by the Aedes genus of mosquitoes. Before 2015, ZKV outbreaks occurred in areas of Africa, the Pacific Islands, and Southeast Asia. The current large outbreak, which began in Brazil, has also emerged throughout a large part of South/Central America, a number of islands in the Caribbean, including Puerto Rico, the Virgin Islands, and Mexico. A sudden rise in the numbers of infants reported born with microcephaly in Brazil, and the detection of the single-stranded positive RNA virus in the amniotic fluid of affected newborns, has captured medical, mainstream media, and global political attention, causing considerable concern in a post-Ebola global community considerably more focused on the threat of internationally transmissible diseases. The goal of this article is to provide an overview of ZKV for clinicians, with the emphasis on pathogenesis, clinical manifestations, diagnosis, and treatment/preventive measures.

  17. Molecular Probes for Diagnosis of Clinically Relevant Bacterial Infections in Blood Cultures▿

    PubMed Central

    Hansen, Wendy L. J.; Beuving, Judith; Bruggeman, Cathrien A.; Wolffs, Petra F. G.

    2010-01-01

    Broad-range real-time PCR and sequencing of the 16S rRNA gene region is a widely known method for the detection and identification of bacteria in clinical samples. However, because of the need for sequencing, such identification of bacteria is time-consuming. The aim of our study was to develop a more rapid 16S real-time PCR-based identification assay using species- or genus-specific probes. The Gram-negative bacteria were divided into Pseudomonas species, Pseudomonas aeruginosa, Escherichia coli, and other Gram-negative species. Within the Gram-positive species, probes were designed for Staphylococcus species, Staphylococcus aureus, Enterococcus species, Streptococcus species, and Streptococcus pneumoniae. The assay also included a universal probe within the 16S rRNA gene region for the detection of all bacterial DNA. The assay was evaluated with a collection of 248 blood cultures. In this study, the universal probe and the probes targeting Pseudomonas spp., P. aeruginosa, E. coli, Streptococcus spp., S. pneumoniae, Enterococcus spp., and Staphylococcus spp. all had a sensitivity and specificity of 100%. The probe specific for S. aureus showed eight discrepancies, resulting in a sensitivity of 100% and a specificity of 93%. These data showed high agreement between conventional testing and our novel real-time PCR assay. Furthermore, this assay significantly reduced the time needed for identification. In conclusion, using pathogen-specific probes offers a faster alternative for pathogen detection and could improve the diagnosis of bloodstream infections. PMID:20962139

  18. Hepatitis E Virus Genotype 3 in Colombia: Survey in Patients with Clinical Diagnosis of Viral Hepatitis

    PubMed Central

    Rendon, Julio; Hoyos, Maria Cristina; di Filippo, Diana; Cortes-Mancera, Fabian; Mantilla, Carolina; Velasquez, Maria Mercedes; Sepulveda, Maria Elsy; Restrepo, Juan Carlos; Jaramillo, Sergio; Arbelaez, Maria Patricia; Correa, Gonzalo; Navas, Maria-Cristina

    2016-01-01

    Background Hepatitis E virus is a major cause of outbreaks as well as sporadic hepatitis cases worldwide. The epidemiology of this enterically transmitted infection differs between developing and developed countries. The aims of this study were to describe HEV infection in Colombian patients and to characterize the genotype. Methods A prospective study was carried out on 40 patients aged over 15 with a clinical diagnosis of viral hepatitis, recruited from five primary health units in the city of Medellin, Colombia. Fecal samples obtained from the 40 consecutives cases were analyzed for HEV RNA using nested reverse transcription PCR for both ORF1 and ORF2-3. The amplicons were sequenced for phylogenetic analyses. Results Nine (22.5%) cases of HEV infection were identified in the study population. Three HEV strains obtained from patients were classified as genotype 3. No significant association was found between cases of Hepatitis E and the variables water drinking source, garbage collection system and contact with pigs. Conclusions This is the first prospective study of hepatitis E in Colombian patients. The circulation of the genotype 3 in this population is predictable considering the reports of the region and the identification of this genotype from pigs in the state of Antioquia, of which Medellin is the capital. Further studies are necessary to establish whether zoonotic transmission of HEV is important in Colombia. PMID:26886728

  19. Proteasome-associated autoinflammatory syndromes: advances in pathogeneses, clinical presentations, diagnosis, and management.

    PubMed

    McDermott, Amelia; Jacks, Jennifer; Kessler, Marcus; Emanuel, Peter D; Gao, Ling

    2015-02-01

    The disease spectrum currently known as the proteasome-associated autoinflammatory syndromes (PRAAS) was first described in 1939 in patients who presented with recurrent fevers beginning in infancy or early childhood, which were accompanied by nodular erythema, a pernio-like rash, and joint contractures. Since then, several syndromes, such as chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome, Nakajo-Nishimura syndrome (NNS), joint contractures, muscle atrophy, microcytic anemia and panniculitis-induced lipodystrophy (JMP) syndrome, and Japanese autoinflammatory syndrome with lipodystrophy (JASL), have been used to categorize patients with diseases within the same spectrum. Recently, independent studies have identified mutations in the human proteasome subunit β type 8 (PSMB8) gene, which result in a sustained inflammatory response in all syndromes. Further functional studies not only suggest a causative role of PSMB8 mutations but also imply that they represent one disease spectrum, referred to as PRAAS. In this paper, we review the clinical presentations and laboratory findings of PRAAS, as well as the most recent advances in pathogeneses, diagnosis, and treatment options for patients with diseases in this spectrum. PMID:25521013

  20. An InN/InGaN Quantum Dot Electrochemical Biosensor for Clinical Diagnosis

    PubMed Central

    Alvi, Naveed ul Hassan; Gómez, Victor J.; Rodriguez, Paul E.D. Soto; Kumar, Praveen; Zaman, Saima; Willander, Magnus; Nötzel, Richard

    2013-01-01

    Low-dimensional InN/InGaN quantum dots (QDs) are demonstrated for realizing highly sensitive and efficient potentiometric biosensors owing to their unique electronic properties. The InN QDs are biochemically functionalized. The fabricated biosensor exhibits high sensitivity of 97 mV/decade with fast output response within two seconds for the detection of cholesterol in the logarithmic concentration range of 1 × 10−6 M to 1 × 10−3 M. The selectivity and reusability of the biosensor are excellent and it shows negligible response to common interferents such as uric acid and ascorbic acid. We also compare the biosensing properties of the InN QDs with those of an InN thin film having the same surface properties, i.e., high density of surface donor states, but different morphology and electronic properties. The sensitivity of the InN QDs-based biosensor is twice that of the InN thin film-based biosensor, the EMF is three times larger, and the response time is five times shorter. A bare InGaN layer does not produce a stable response. Hence, the superior biosensing properties of the InN QDs are governed by their unique surface properties together with the zero-dimensional electronic properties. Altogether, the InN QDs-based biosensor reveals great potential for clinical diagnosis applications. PMID:24132228

  1. Epidemiology, Clinical Presentation, Laboratory Diagnosis, Antimicrobial Resistance, and Antimicrobial Management of Invasive Salmonella Infections.

    PubMed

    Crump, John A; Sjölund-Karlsson, Maria; Gordon, Melita A; Parry, Christopher M

    2015-10-01

    Salmonella enterica infections are common causes of bloodstream infection in low-resource areas, where they may be difficult to distinguish from other febrile illnesses and may be associated with a high case fatality ratio. Microbiologic culture of blood or bone marrow remains the mainstay of laboratory diagnosis. Antimicrobial resistance has emerged in Salmonella enterica, initially to the traditional first-line drugs chloramphenicol, ampicillin, and trimethoprim-sulfamethoxazole. Decreased fluoroquinolone susceptibility and then fluoroquinolone resistance have developed in association with chromosomal mutations in the quinolone resistance-determining region of genes encoding DNA gyrase and topoisomerase IV and also by plasmid-mediated resistance mechanisms. Resistance to extended-spectrum cephalosporins has occurred more often in nontyphoidal than in typhoidal Salmonella strains. Azithromycin is effective for the management of uncomplicated typhoid fever and may serve as an alternative oral drug in areas where fluoroquinolone resistance is common. In 2013, CLSI lowered the ciprofloxacin susceptibility breakpoints to account for accumulating clinical, microbiologic, and pharmacokinetic-pharmacodynamic data suggesting that revision was needed for contemporary invasive Salmonella infections. Newly established CLSI guidelines for azithromycin and Salmonella enterica serovar Typhi were published in CLSI document M100 in 2015.

  2. Clinical assessment and diagnosis of adults with attention-deficit/hyperactivity disorder.

    PubMed

    Haavik, Jan; Halmøy, Anne; Lundervold, Astri J; Fasmer, Ole Bernt

    2010-10-01

    Attention-deficit/hyperactivity disorder (ADHD) is a prevalent disorder in adult psychiatry, particularly in out-patient settings. There are no objective, laboratory-based tests that can establish this diagnosis. Present diagnostic criteria for ADHD are formulated primarily according to behavior in childhood, based on age inappropriate and impairing levels of hyperactivity, impulsivity and inattention. Other symptoms, such as mood instability and frustration intolerance, are not included in current criteria for ADHD, but are very prevalent in this patient group. ADHD is often comorbid with alcohol and substance abuse and other psychiatric disorders, in particular anxiety and personality disorders. Thus, the diagnostic assessment should both include a comprehensive clinical interview, rating scales for past and present symptoms and collateral information from multiple informants, as well as assessment of a broader spectrum of psychiatric and somatic conditions. As ADHD is associated with changes in brain function mediating different aspects of neuropsychological functions, assessment of those functions is important to understand the symptom patterns and to develop targeted treatment programs. Some topics for further research and for future developments of diagnostic criteria and tools are highlighted. PMID:20925472

  3. Clinical evaluation of the diagnosis of nasopharyngeal carcinoma using teleconsultation system

    NASA Astrophysics Data System (ADS)

    Zhang, Hong; Hu, Dake; Zhou, Shengmin; Tian, Peilin

    1997-05-01

    Diagnosing nasopharyngeal carcinoma in its early stage plays an important role in the treatment of this disease. We have developed a teleconsultation system to assist rural clinician diagnose the carcinoma under the help of radiologist at metropolitan hospital. In November 1996, we put the system into clinical environment for trial. The purpose is, from the radiologist and physician's points of view, to compare our teleconsultation system to the traditional travel-based consultation. Two hospitals were involved in the trial. We deployed a teleconsultation expert center (TEC) and remote clinician's workstation connected to TEC through publish telephone networks. Three radiologists and one clinician were involved in the three-week trial collecting 35 cases. For each case in our trial, two kinds of consultation were performed: the teleconsultation and then the travel-based one. We, for both ways of consultation, (1) collected all pairs of reports, (2) calculated financial expenditure, and (3) recorded time involved. We also asked the professionals involved for their impression of the system. Data collected from the evaluation has indicated a sanguine feature for diagnosing nasopharyngeal carcinoma using teleconsultation system: the diagnosis accuracy is excellent, the cost and the consultation delay were significantly reduced.

  4. Autistic spectrum disorders: A review of clinical features, theories and diagnosis.

    PubMed

    Fakhoury, Marc

    2015-06-01

    Autism spectrum disorder (ASD) is a set of neurodevelopmental disorders that is among the most severe in terms of prevalence, morbidity and impact to the society. It is characterized by complex behavioral phenotype and deficits in both social and cognitive functions. Although the exact cause of ASD is still not known, the main findings emphasize the role of genetic and environmental factors in the development of autistic behavior. Environmental factors are also likely to interact with the genetic profile and cause aberrant changes in brain growth, neuronal development, and functional connectivity. The past few years have seen an increase in the prevalence of ASD, as a result of enhanced clinical tests and diagnostic tools. Despite growing evidence for the involvement of endogenous biomarkers in the pathophysiology of ASD, early detection of this disorder remains a big challenge. This paper describes the main behavioral and cognitive features of ASD, as well as the symptoms that differentiate autism from other developmental disorders. An attempt will be made to integrate all the available evidence which point to reduced brain connectivity, mirror neurons deficits, and inhibition-excitation imbalance in individuals with ASD. Finally, this review discusses the main factors involved in the pathophysiology of ASD, and illustrates some of the most important markers used for the diagnosis of this debilitating disorder.

  5. Early diagnosis of primary Sjögren's syndrome: EULAR-SS task force clinical recommendations.

    PubMed

    Brito-Zerón, Pilar; Theander, Elke; Baldini, Chiara; Seror, Raphaèle; Retamozo, Soledad; Quartuccio, Luca; Bootsma, Hendrika; Bowman, Simon J; Dörner, Thomas; Gottenberg, Jacques-Eric; Mariette, Xavier; Bombardieri, Stefano; de Vita, Salvatore; Mandl, Thomas; Ng, Wan-Fai; Kruize, Aike A; Tzioufas, Athanasios; Vitali, Claudio; Buyon, Jill; Izmirly, Peter; Fox, Robert; Ramos-Casals, Manuel

    2016-01-01

    Sjögren's syndrome (SjS) is a systemic autoimmune disease that mainly affects the exocrine glands, leading to generalized mucosal dryness. However, primary SjS may initially present with non-sicca (systemic) manifestations. When these features appear before the onset of an overt sicca syndrome, we may talk of an underlying 'occult' SjS. The European League Against Rheumatism (EULAR) has promoted and supported an international collaborative study group (EULAR-SS Task Force) aimed at developing consensual recommendations to provide a homogeneous approach to the patient with primary SjS presenting with systemic involvement. This review summarizes the key factors that should be taken into account in the diagnostic approach in a patient with suspected SjS according to the main clinical patterns of presentation, and is especially focused on organ-specific systemic disease presentations, including a consensus set of recommendations in order to reach an early diagnosis. Close collaboration with the different specialties involved through a comprehensive multidisciplinary approach is essential in SjS patients presenting with systemic involvements.

  6. Epidemiology, Clinical Presentation, Laboratory Diagnosis, Antimicrobial Resistance, and Antimicrobial Management of Invasive Salmonella Infections

    PubMed Central

    Sjölund-Karlsson, Maria; Gordon, Melita A.; Parry, Christopher M.

    2015-01-01

    SUMMARY Salmonella enterica infections are common causes of bloodstream infection in low-resource areas, where they may be difficult to distinguish from other febrile illnesses and may be associated with a high case fatality ratio. Microbiologic culture of blood or bone marrow remains the mainstay of laboratory diagnosis. Antimicrobial resistance has emerged in Salmonella enterica, initially to the traditional first-line drugs chloramphenicol, ampicillin, and trimethoprim-sulfamethoxazole. Decreased fluoroquinolone susceptibility and then fluoroquinolone resistance have developed in association with chromosomal mutations in the quinolone resistance-determining region of genes encoding DNA gyrase and topoisomerase IV and also by plasmid-mediated resistance mechanisms. Resistance to extended-spectrum cephalosporins has occurred more often in nontyphoidal than in typhoidal Salmonella strains. Azithromycin is effective for the management of uncomplicated typhoid fever and may serve as an alternative oral drug in areas where fluoroquinolone resistance is common. In 2013, CLSI lowered the ciprofloxacin susceptibility breakpoints to account for accumulating clinical, microbiologic, and pharmacokinetic-pharmacodynamic data suggesting that revision was needed for contemporary invasive Salmonella infections. Newly established CLSI guidelines for azithromycin and Salmonella enterica serovar Typhi were published in CLSI document M100 in 2015. PMID:26180063

  7. [Case finding in family practice and neuropsychological diagnosis at a memory clinic].

    PubMed

    Monsch, Andreas U

    2015-04-01

    To improve early diagnosis of cognitive impairment in the elderly a case-finding strategy should be adopted: general practitioners should only examine "suspicious" patients with a very efficient tool. The BrainCheck, a new case-finding tool from Switzerland, comprises of three questions for the patient and the clock drawing test. In addition the family member fills out a short questionnaire. In a validation study with 113 patients and 70 cognitively healthy individuals the BrainCheck showed a correct classification rate of 89 % (sensitivity = 97 %; specificity = 82 %). Within the work of a memory clinic the neuropsychological assessment should use appropriately normed cognitive instruments, especially if one is to detect subtle cognitive impairment. DSM-5 proposes to replace the terms mild cognitive impairment and dementia with mild and severe neurocognitive disorder, respectively. A major improvement in DSM-5 is the list of cognitive domains, which need to be examined. However, no standardized or widely accepted tool exists today to assess the domain of social cognition. PMID:25791043

  8. 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 classifie