... and Women with Hemophilia Inheritance of Hemophilia Definitions & Terminology Bleeding Symptoms Carrier Diagnosis When to Test for ... and Women with Hemophilia Inheritance of Hemophilia Definitions & Terminology Bleeding Symptoms Carrier Diagnosis When to Test for ...
hacia una Caracterización en el Nivel de Conocimiento . In proceedings of the I Jornadas de Trabajo sobre Diagnosis. Valladolid 2001.  W. Hamscher...Isaac Moro. Clasificación de patrones temporales en sistemas dinámicos mediante Boosting y Alineamiento dinámico temporal. In proceedings of the I
... diagnosis has both a mental disorder and an alcohol or drug problem. These conditions occur together frequently. In particular, alcohol and drug problems tend to occur with Depression Anxiety disorders ...
The objective of the research in this area of fault management is to develop and implement a decision aiding concept for diagnosing faults, especially faults which are difficult for pilots to identify, and to develop methods for presenting the diagnosis information to the flight crew in a timely and comprehensible manner. The requirements for the diagnosis concept were identified by interviewing pilots, analyzing actual incident and accident cases, and examining psychology literature on how humans perform diagnosis. The diagnosis decision aiding concept developed based on those requirements takes abnormal sensor readings as input, as identified by a fault monitor. Based on these abnormal sensor readings, the diagnosis concept identifies the cause or source of the fault and all components affected by the fault. This concept was implemented for diagnosis of aircraft propulsion and hydraulic subsystems in a computer program called Draphys (Diagnostic Reasoning About Physical Systems). Draphys is unique in two important ways. First, it uses models of both functional and physical relationships in the subsystems. Using both models enables the diagnostic reasoning to identify the fault propagation as the faulted system continues to operate, and to diagnose physical damage. Draphys also reasons about behavior of the faulted system over time, to eliminate possibilities as more information becomes available, and to update the system status as more components are affected by the fault. The crew interface research is examining display issues associated with presenting diagnosis information to the flight crew. One study examined issues for presenting system status information. One lesson learned from that study was that pilots found fault situations to be more complex if they involved multiple subsystems. Another was pilots could identify the faulted systems more quickly if the system status was presented in pictorial or text format. Another study is currently under way to
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The chapter deals with the diagnosis of the malignant melanoma of the skin. This aggressive type of cancer with steadily growing incidence in white populations can hundred percent be cured if it is detected in an early stage. Imaging techniques, in particular dermoscopy, have contributed significantly to improvement of diagnostic accuracy in clinical settings, achieving sensitivities for melanoma experts of beyond 95% at specificities of 90% and more. Automatic computer analysis of dermoscopy images has, in preliminary studies, achieved classification rates comparable to those of experts. However, the diagnosis of melanoma requires a lot of training and experience, and at the time being, average numbers of lesions excised per histology-proven melanoma are around 30, a number which clearly is too high. Further improvements in computer dermoscopy systems and their competent use in clinical settings certainly have the potential to support efforts of improving this situation. In the chapter, medical basics, current state of melanoma diagnosis, image analysis methods, commercial dermoscopy systems, evaluation of systems, and methods and future directions are presented.
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Johansen, N; Petersen, H D
This article describes two cases of worm-infestation with symptomatology, diagnosis and treatment. The cases are discussed in respect to the other cases in the literature emphasizing symptomatology and diagnosis by endoscopy.
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Golbus, M S; Hall, B D; Filly, R A; Poskanzer, L B
Severe rhizomelic and mesomelic dwarfism was demonstrated in a 20-week gestation fetus by amniography. A systematic progressive approach to prenatal diagnosis in the absence of a definitive diagnosis and the use of contrast radiography is discussed.
The clinical diagnosis is considered the cornerstone in the decisions making process, since it has various functions, including the executive. However, the diagnosis is not only a goal by itself, but a mean to help patients. It is not enough to identify how the disease which ails the patient is called; the diagnosis must be individualized as much as possible in each case, for the mere mention of the diagnosis can mean a wide variety of problems.
Siewierska, Anna; Sliwczyńska, Jadwiga; Namysłowska, Irena
The authors discuss the concept of systemic diagnosis and its logical and scientific validity. A diagnosis is the result of the "diagnostic process", with the presence of the acting object (the person making the diagnosis) and the subject (the individual or group patient, such as family), between whom there is a skew relation. They also wonder, to which part of this diagnostic process is the term "systemic" applied--to the clinician or to the subject of the diagnosis, their relation or the effect of the process. The authors also stress the crucial effect of the constructivism and social constructionism on the process of the systemic diagnosis.
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Guégan-Massardier, Evelyne; Laubier, Cécile
Cluster headache is characterized by disabling stereotyped headache. Early diagnosis allows appropriate treatment, unfortunately diagnostic errors are frequent. The main differential diagnoses are other primary or essential headaches. Migraine, more frequent and whose diagnosis is carried by excess, trigeminal neuralgia or other trigemino-autonomic cephalgia. Vascular or tumoral underlying condition can mimic cluster headache, neck and brain imaging is recommended, ideally MRI.
Petinataud, D; Berger, S; Contet-Audonneau, N; Machouart, M
Onychomycosis is a frequent cause of nail infections due to dermatophytes. Molds and yeast may also be responsible of these pathologies. Antifungal treatments are frequently given without a mycological diagnosis, partly because of the requisite time for obtaining the biological results. The mycological diagnosis requires a direct microscopic examination and a culture in order to accurately identify the fungal genus and species. Nevertheless, this conventional diagnosis is often time consuming due to the delay of fungal cultures and presents disadvantages that make it not sufficient enough to give a precise and confident response to the clinicians. Therefore additional tests have been developed to help distinguish onychomycosis from other nail disorders. Among them, molecular biology techniques offer modern and rapid tools to improve traditional microbiological diagnosis. In this review, we first present the conventional diagnosis methods for onychomycosis and then we describe the main molecular biology tools and the currently available commercial kits that allow a rapid detection of the pathology.
Feldman, Howard H.; Jacova, Claudia; Robillard, Alain; Garcia, Angeles; Chow, Tiffany; Borrie, Michael; Schipper, Hyman M.; Blair, Mervin; Kertesz, Andrew; Chertkow, Howard
Background Dementia can now be accurately diagnosed through clinical evaluation, cognitive screening, basic laboratory evaluation and structural imaging. A large number of ancillary techniques are also available to aid in diagnosis, but their role in the armamentarium of family physicians remains controversial. In this article, we provide physicians with practical guidance on the diagnosis of dementia based on recommendations from the Third Canadian Consensus Conference on the Diagnosis and Treatment of Dementia, held in March 2006. Methods We developed evidence-based guidelines using systematic literature searches, with specific criteria for study selection and quality assessment, and a clear and transparent decision-making process. We selected studies published from January 1996 to December 2005 that pertained to key diagnostic issues in dementia. We graded the strength of evidence using the criteria of the Canadian Task Force on Preventive Health Care. Results Of the 1591 articles we identified on all aspects of dementia diagnosis, 1095 met our inclusion criteria; 620 were deemed to be of good or fair quality. From a synthesis of the evidence in these studies, we made 32 recommendations related to the diagnosis of dementia. There are clinical criteria for diagnosing most forms of dementia. A standard diagnostic evaluation can be performd by family physicians over multiple visits. It involves a clinical history (from patient and caregiver), a physical examination and brief cognitive testing. A list of core laboratory tests is recommended. Structural imaging with computed tomography or magnetic resonance imaging is recommended in selected cases to rule out treatable causes of dementia or to rule in cerebrovascular disease. There is insufficient evidence to recommend routine functional imaging, measurement of biomarkers or neuropsychologic testing. Interpretation The diagnosis of dementia remains clinically integrative based on history, physical examination and
Rodrigues, Luiz Oswaldo Carneiro; Batista, Pollyanna Barros; Goloni-Bertollo, Eny Maria; de Souza-Costa, Danielle; Eliam, Lucas; Eliam, Miguel; Cunha, Karin Soares Gonçalves; Darrigo-Junior, Luiz Guilherme; Ferraz-Filho, José Roberto Lopes; Geller, Mauro; Gianordoli-Nascimento, Ingrid F; Madeira, Luciana Gonçalves; Malloy-Diniz, Leandro Fernandes; Mendes, Hérika Martins; de Miranda, Débora Marques; Pavarino, Erika Cristina; Baptista-Pereira, Luciana; Rezende, Nilton A; Rodrigues, Luíza de Oliveira; da Silva, Carla Menezes; de Souza, Juliana Ferreira; de Souza, Márcio Leandro Ribeiro; Stangherlin, Aline; Valadares, Eugênia Ribeiro; Vidigal, Paula Vieira Teixeira
Neurofibromatoses (NF) are a group of genetic multiple tumor growing predisposition diseases: neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2) and schwannomatosis (SCH), which have in common the neural origin of tumors and cutaneous signs. They affect nearly 80 thousand of Brazilians. In recent years, the increased scientific knowledge on NF has allowed better clinical management and reduced complication morbidity, resulting in higher quality of life for NF patients. In most cases, neurology, psychiatry, dermatology, clinical geneticists, oncology and internal medicine specialists are able to make the differential diagnosis between NF and other diseases and to identify major NF complications. Nevertheless, due to its great variability in phenotype expression, progressive course, multiple organs involvement and unpredictable natural evolution, NF often requires the support of neurofibromatoses specialists for proper treatment and genetic counseling. This Part 1 offers step-by-step guidelines for NF differential diagnosis. Part 2 will present the NF clinical management.
Chadwick, David; Jelen, Paddy; Almond, Solomon
The differential diagnosis of episodes of transient loss of consciousness can be straightforward but can also present some of the greatest diagnostic difficulties. In most circumstances, when there is uncertainty, usually when there have been only one or a few poorly observed events, it may be reasonable to admit to that uncertainty and await any further events to clarify the diagnosis. We have reason to know from bitter experience that this is not always the case and that more rigorous consideration of investigation may be justified rather than allowing the passage of time to clarify the diagnosis.
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... the parasite can be helpful for cases of visceral leishmaniasis; tests to look for the parasite itself usually also are done. More on: Resources for Health Professionals: Diagnosis Get Email Updates To receive email updates about ...
García-Bermejo, Isabel; de Ory, Fernando
Serological diagnosis of acute phase infections implies the detection of IgM specific response, an effective marker of primary infection, but with less clinical significance in reactivations or reinfections. The aim of this article is to provide an updated view of the rapid diagnosis in serology by detecting the IgM isotype and reviewing its applications and limitations. Point-of-care (PoC) tests are analyzed. PoC tests are used in geographical areas where traditional tests are not available, as well as in other circumstances where their use brings the diagnosis directly to the target population. Likewise, their use reduces the response time between taking the sample and the diagnosis, making it easier to make clinical decisions. PoC assays have proven cost-effective, especially in preventing vertical transmission of syphilis and HIV infection.
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... the diagnosis is confirmed, or in laboratory-terms, “culture confirmed.” Clinical diagnostic laboratories report the test results ... or viruses, which share distinctive surface chemical structures Culture: Growing bacteria, viruses, and other living matter in ...
Song, Jeong Eun
Hepatitis B virus (HBV) infection is a major global health problems leading to severe liver disease such as cirrhosis and hepatocellular carcinoma (HCC). HBV is a circular, partly double-stranded DNA virus with various serological markers: hepatitis B surface antigen (HBsAg) and anti-HBs, anti-HBc IgM and IgG, and hepatitis B e antigen (HBeAg) and anti-HBe. It is transmitted by sexual, parenteral and vertical route. One significant method to diminish the burden of this disease is timely diagnosis of acute, chronic and occult cases of HBV. First step of HBV diagnosis is achieved by using serological markers for detecting antigens and antibodies. In order to verify first step of diagnosis, to quantify viral load and to identify genotypes, quantitative or qualitative molecular tests are used. In this article, the serological and molecular tests for diagnosis of HBV infection will be reviewed. PMID:27761442
Wahner, H. W.
Early recognition of osteoporosis is difficult because symptoms are lacking and there are no distinct, readily accessible diagnostic features. This article reviews the standard approach, radiographic and laboratory diagnosis, bone mass measurement techniques, and interpretation of bone mineral data. (MT)
... our e-newsletter! Aging & Health A to Z Dementia Diagnosis & Tests If you or someone you care ... To determine whether an older adult might have dementia, a healthcare professional will: Ask about the person’s ...
Gallo Vallejo, Francisco Javier; Giner Ruiz, Vicente
Synovial fluid analysis in rheumatological diseases allows a more accurate diagnosis in some entities, mainly infectious and microcrystalline arthritis. Examination of synovial fluid in patients with osteoarthritis is useful if a differential diagnosis will be performed with other processes and to distinguish between inflammatory and non-inflammatory forms. Joint aspiration is a diagnostic and sometimes therapeutic procedure that is available to primary care physicians.
García-Ortega, P; Cadahía, A; Kurdi, F I; Rodrigo, M J
A prospective study of 54 patients showed that pollinosis due to parietaria is prevalent in Spain and frequently causes asthma and rhinitis. Because of its atypical clinical features, patients are often erroneously thought to have intrinsic asthma. False negative skin tests may occur, probably related to the type of extract used. This may contribute to a faulty diagnosis. The RAST is most useful for diagnosis.
Bharadwaj, Rahul; Kumar, Suresh
Somnambulism is an arousal disorder that is usually benign, self-limited and only infrequently requires treatment. Chronic sleepwalking in children has been shown to be associated with behavioral problems and poor emotional regulation. Most cases can be diagnosed with careful noting of case history and epilepsy is an important differential diagnosis. Management with pharmacological and behavioural measures is usually safe and effective. We present two cases of somnambulism that highlight the importance of the diagnosis and treatment of this condition.
The progress of molecular genetics helps clinicians to prove or exclude a suspected diagnosis for a vast and yet increasing number of genodermatoses. This leads to precise genetic counselling, prenatal diagnosis and preimplantation genetic haplotyping for many inherited skin conditions. It is also helpful in such occasions as phenocopy, late onset and incomplete penetrance, uniparental disomy, mitochondrial inheritance and pigmentary mosaicism. Molecular methods of two genodermatoses are explained in detail, i.e. genodermatoses with skin fragility and neurofibromatosis type 1.
Di Bisceglie, Adrian M.
Hepatocellular carcinoma (HCC) is responsible for a large proportion of cancer deaths worldwide. HCC is frequently diagnosed after the development of clinical deterioration at which time survival is measured in months. Long-term survival requires detection of small tumors, often present in asymptomatic individuals, which may be more amenable to invasive therapeutic options. Surveillance of high-risk individuals for HCC is commonly performed using the serum marker alfa-fetoprotein (AFP) often in combination with ultrasonography. Various other serologic markers are currently being tested to help improve surveillance accuracy. Diagnosis of HCC often requires more sophisticated imaging modalities such as CT scan and MRI, which have multiphasic contrast enhancement capabilities. Serum AFP used alone can be helpful if levels are markedly elevated, which occurs in fewer than half of cases at time of diagnosis. Confirmation by liver biopsy can be performed under circumstances when the diagnosis of HCC remains unclear. PMID:18333158
Montag, M; van der Ven, K; van der Ven, H
Polar body diagnosis (PBD) is a diagnostic method for the indirect genetic analysis of oocytes. Polar bodies are by-products of the meiotic cell cycle which have no influence on further embryo development. The biopsy of polar bodies can be accomplished either by zona drilling or laser drilling within a very short time period. The paternal contribution to the genetic constitution of the developing embryo cannot be diagnosed by PBD. The major application of PBD is the detection of maternally derived chromosomal aneuploidies and translocations in oocytes. For these indications, PBD may offer a viable alternative to blastomere biopsy as the embryo's integrity remains unaffected in contrast to preimplantation genetic diagnosis by blastomere biopsy. The fast development in the field of molecular diagnostics will also influence PBD and probably allow a more general diagnosis in the future.
Deb, Somnath (Inventor); Ghoshal, Sudipto (Inventor); Malepati, Venkata N. (Inventor); Kleinman, David L. (Inventor); Cavanaugh, Kevin F. (Inventor)
A network-based diagnosis server for monitoring and diagnosing a system, the server being remote from the system it is observing, comprises a sensor for generating signals indicative of a characteristic of a component of the system, a network-interfaced sensor agent coupled to the sensor for receiving signals therefrom, a broker module coupled to the network for sending signals to and receiving signals from the sensor agent, a handler application connected to the broker module for transmitting signals to and receiving signals therefrom, a reasoner application in communication with the handler application for processing, and responding to signals received from the handler application, wherein the sensor agent, broker module, handler application, and reasoner applications operate simultaneously relative to each other, such that the present invention diagnosis server performs continuous monitoring and diagnosing of said components of the system in real time. The diagnosis server is readily adaptable to various different systems.
Filkins, K.; Russo, R.J.
The multiauthor text is written as a ''guide to rationalize and clarify certain aspects of diagnosis, general counseling and intervention'' for ''health professionals who provide care to pregnant women.'' The text is not aimed at the ultrasonographer but rather at the physicians who are clinically responsible for patient management. Chapters of relevance to radiologists include an overview of prenatal screening and counseling, diagnosis of neural tube defects, ultrasonographic (US) scanning of fetal disorders in the first and second trimesters of pregnancy, US scanning in the third trimester, multiple gestation and selective termination, fetal echo and Doppler studies, and fetal therapy. Also included are overviews of virtually all currently utilized prenatal diagnostic techniques including amniocentesis, fetal blood sampling, fetoscopy, recombinant DNA detection of hemoglobinopathies, chorionic villus sampling, embryoscopy, legal issues, and diagnosis of Mendelian disorders by DNA analysis.
Maquiné, Gustavo Ávila; Maroja, Maria de Fátima; Mesquita, Cristina Rabello; de Sousa, Petra Pereira; de Morais, Patrícia Motta; Talhari, Carolina
We report the case of a 81-year-old female patient who had a two-year history of violet-colored erythematous tumors on both legs. Histopathological and immunohistochemical examinations confirmed the diagnosis of primary cutaneous large B-cell lymphoma, leg type. This rare, cutaneous lymphoma affects predominantly elderly females. Clinically, patients present with tumoral lesions on one or both legs (worst prognosis). Diagnosis is based on clinical, histopathological and immunohistochemical findings. The strong expression of BCL2, BCL6, MUM-1 and CD20, and the positivity for Ki67 antigen confirm the diagnosis. R-CHOP chemotherapy regimen (rituximab, cyclophosphamide, doxorubicin, vincristine and prednisone) is the most widely accepted treatment. PMID:25054764
Everse, K. E.; Sinor, T. W.; Menzel, E. R.
We have investigated the potential of lasers for real time in situ dental diagnosis via transillumination of teeth and gums and via fluorescence. Not surprisingly, absorption and/or scattering of light by teeth was found to be insensitive to light color. However, monochromatic transillumination revealed detail better than white light. Transillumination of gums was best performed with orange-red light because of tissue absorption. Illumination of oral structures by 488 nm Ar-laser light was effective in revealing diagnosis detail by fluorescence. Incipient caries and fine tooth fracture lines that are generally not revealed by radiography were observable by laser.
Systems, New York, Marcel Dekker, (to appear). 3. Desoer , C.A. and S.E. Kuh, Basic Circuit Theory, McGraw-Hill, New York, 1969, pp. 423-425. 130 NONLINEAR...DIAGNOSIS A 7*ssior For 1 MU3 CRA&T IY’IC TAB Ju-st i.cat IC- P.U A: CONTENTS Fault Diagnosis in Electronic Circuits , R. Saeks and R.-w. Liu...Vincentelli and R. Saeks .............. 61 Multitest Diagnosibility of Nonlinear Circuits and Systems, A. Sangiovanni-Vincentelli and R. Saeks
Szerafin, László; Jakó, János
The authors describe the factors influencing of normal hemoglobin level, pathogenetic and morphological classification of anemias and the possibilities to distinguish their different types. They highlight features of iron deficiency anemia and anemia of chronic diseases. They summarise in tables the basis of laboratory diagnosis and possibility of identification of different types of anemias.
The question who is the subject of the right to prenatal diagnosis may be answered in four ways: the parents, the child, society, or no one. This article investigates the philosophical issues involved in each of these answers, which touch upon the conditions of personal identity, the principle of privacy, the scope of social responsibility, and the debate about impersonalism in ethics. PMID:8558544
World Federation of the Deaf, Rome (Italy).
Seven conference papers from the U.S.S.R., India, Poland, Czechoslovakia, and Yugoslavia consider the diagnosis of hearing loss. They are "Examination of Hearing of Children, Aged from 2 to 5, by Means of Playing Audiometry" by A. P. Kossacheva, "A Study of the Etiology and Pattern of Deafness in a School for the Deaf in Madras,…
Srivastava, Pankaj; Dayama, Anand; Mehrotra, Sanjana; Sundar, Shyam
Leishmaniasis is a vector-borne disease with up to 350 million people at risk of infection worldwide. Among its different clinical manifestations, visceral is the most severe form. Since clinical features of visceral leishmaniasis (VL) mimic several other common diseases, accurate diagnosis of VL is crucial as the treatment is associated with significant toxicity. Invasive and risky techniques involving demonstration of the parasites in stained preparations from splenic and bone marrow aspirate is still the gold standard for VL diagnosis. Serological tests using rk39 in ELISA or rapid immunochromatographic format, Direct Agglutination Test (DAT), immunoblotting have issues related to a significant proportion of asymptomatic individuals being positive with these tests and their inability to diagnose relapses as these remain positive for several months to years after cure. PCR is the most common molecular technique successfully used for diagnosis and differentiation of species. Through this review we focus extensively on the comparative utilities of the various diagnostic tools currently available for VL, describing in depth their advantages and disadvantages, addressing the recent advances attained in the field. A simple, rapid, non invasive, accurate and cost effective marker of active VL, which can be used in field conditions, is necessary to improve diagnosis of VL. PMID:21074233
Newton, Robert U.; Dugan, Eric
Discusses the various strength qualities (maximum strength, high- and low-load speed strength, reactive strength, rate of force development, and skill performance), noting why a training program design based on strength diagnosis can lead to greater efficacy and better performance gains for the athlete. Examples of tests used to assess strength…
van der Zee, Anneke; Schellekens, Joop F P; Mooi, Frits R
The introduction of vaccination in the 1950s significantly reduced the morbidity and mortality of pertussis. However, since the 1990s, a resurgence of pertussis has been observed in vaccinated populations, and a number of causes have been proposed for this phenomenon, including improved diagnostics, increased awareness, waning immunity, and pathogen adaptation. The resurgence of pertussis highlights the importance of standardized, sensitive, and specific laboratory diagnoses, the lack of which is responsible for the large differences in pertussis notifications between countries. Accurate laboratory diagnosis is also important for distinguishing between the several etiologic agents of pertussis-like diseases, which involve both viruses and bacteria. If pertussis is diagnosed in a timely manner, antibiotic treatment of the patient can mitigate the symptoms and prevent transmission. During an outbreak, timely diagnosis of pertussis allows prophylactic treatment of infants too young to be (fully) vaccinated, for whom pertussis is a severe, sometimes fatal disease. Finally, reliable diagnosis of pertussis is required to reveal trends in the (age-specific) disease incidence, which may point to changes in vaccine efficacy, waning immunity, and the emergence of vaccine-adapted strains. Here we review current approaches to the diagnosis of pertussis and discuss their limitations and strengths. In particular, we emphasize that the optimal diagnostic procedure depends on the stage of the disease, the age of the patient, and the vaccination status of the patient.
Soria, A; Francès, C
Urticaria is a common inflammatory skin disease. It is clinically defined as the occurrence of transient papular skin and/or mucosal lesions or subcutaneous lesions called angioedema. Chronic urticaria is defined as a clinical course over more than 6weeks. Different clinical forms of urticaria can coexist in the same patient. Urticaria results of mast cell activation. The diagnosis of urticaria is based on clinical examination. An allergic etiology for acute urticaria, although rare, is always to find and remove. Chronic urticaria is not allergic. Diagnosis is based on questioning and a careful clinical examination to rule out differential diagnoses. Few diagnostic tests are necessary for diagnosis and management, and are especially useful in case of doubtful diagnosis. The treatment of urticaria is symptomatic and based on anti-H1 second generation antihistamines as first-line therapy. In some chronic urticarial, antihistamines up dosing may be necessary. In the majority of patients, this treatment is sufficient to control chronic urticaria. In case of antihistamines failure, other treatment particularly immunomodulatory treatments can be offered in specialized departments.
Seligman, Linda; Moore, Bonita Marcus
Provides an overview of mood disorders according to Diagnostic and Statistical Manual (fourth edition) criteria and other relevant information. Differential diagnosis is facilitated through discussion of differences and similarities among mental disorders, age and gender-related patterns of mood disorders, and useful diagnostic tools. (Author)
Echeverría, Carlos; Goic, Alejandro; Lavados, Manuel; Quintana, Carlos; Rojas, Alberto; Serani, Alejandro; Vacarezza, Ricardo
This paper undertakes an analysis of the scientific criteria used in the diagnosis of death and underscores the importance of intellectual rigor in the definition of medical concepts, particularly regarding such a critical issue as the diagnosis of death. Under the cardiorespiratory criterion, death is defined as "the irreversible cessation of the functioning of an organism as a whole", and the tests used to confirm this criterion (negative life-signs) are sensitive and specific. In this case, cadaverous phenomena appear immediately following the diagnosis of death. On the other hand, doubts have arisen concerning the theoretical and the inner consistency of the criterion of brain death, since it does not satisfy the definition of "the irreversible cessation of the functioning of an organism as a whole", nor the requirement of "total and irreversible cessation of all functions of the entire brain, including the brain stem". There is evidence to the effect that the tests used to confirm this criterion are not specific enough. It is clear that brain death marks the beginning of a process that eventually ends in death, though death does not occur at that moment. From an ethical point of view, the conflict arises between the need to provide an unequivocal diagnosis of death and the possibility of saving a life through organ transplantation. The sensitive issue of brain death calls for a more thorough and in-depth discussion among physicians and the community at large.
The purpose of this paper is to provide an overview of assessment, diagnosis, and treatment planning for individuals with substance abuse problems. The intent is to provide information to professional counselors in school, rehabilitation, school psychology, social work, public mental health, and private treatment settings. Information to be…
Schiffman, Gilbert B.
The diagnosis of severely retarded pupils as an interdisciplinary concern is discussed. Descriptions of the severe reading disability syndrome given by various disciplines are presented under the following headings: Neurological Factors--minimal brain damage, lateral dominance; Physical Factors--endocrine and metabolic disorders, optical and…
Schellekens, Joop F. P.; Mooi, Frits R.
SUMMARY The introduction of vaccination in the 1950s significantly reduced the morbidity and mortality of pertussis. However, since the 1990s, a resurgence of pertussis has been observed in vaccinated populations, and a number of causes have been proposed for this phenomenon, including improved diagnostics, increased awareness, waning immunity, and pathogen adaptation. The resurgence of pertussis highlights the importance of standardized, sensitive, and specific laboratory diagnoses, the lack of which is responsible for the large differences in pertussis notifications between countries. Accurate laboratory diagnosis is also important for distinguishing between the several etiologic agents of pertussis-like diseases, which involve both viruses and bacteria. If pertussis is diagnosed in a timely manner, antibiotic treatment of the patient can mitigate the symptoms and prevent transmission. During an outbreak, timely diagnosis of pertussis allows prophylactic treatment of infants too young to be (fully) vaccinated, for whom pertussis is a severe, sometimes fatal disease. Finally, reliable diagnosis of pertussis is required to reveal trends in the (age-specific) disease incidence, which may point to changes in vaccine efficacy, waning immunity, and the emergence of vaccine-adapted strains. Here we review current approaches to the diagnosis of pertussis and discuss their limitations and strengths. In particular, we emphasize that the optimal diagnostic procedure depends on the stage of the disease, the age of the patient, and the vaccination status of the patient. PMID:26354823
The author presents a model based on verbal and non-verbal instruments in order to elaborate a psychological diagnosis in troubles of sexual behavior. The instruments usually employed are the following: the map aimed at verifying harmony or conflict with significant people; family drawing, another means to check harmony or conflict in the nuclear family; genogram, in order to reconstruct family myths; body drawing aimed at discovering the body parts that give pleasure, uneasiness, annoyance-tickle and the problems connected with genitals; questionnaire on the couple aimed at finding out areas of mutual dissatisfaction; the drawing of the shared space in the couple, represented by the WE area, in order to identify the relational/emotional deficiencies. Using this model we can simplify the anamnesis, focus on the problematic areas, quickly check the unconscious contents and define a diagnosis with the subsequent hypothesis of intervention.
Filkins, K.; Russo, J.F.
Advances in the field of prenatal diagnosis have been rapid during the past decade. Moreover, liberal use of birth control methods and restriction of family size have placed greater emphasis on optimum outcome of each pregnancy. There are many prenatal diagnostic techniques of proven value; the risks, including false negatives and false positives, are known. With the rapid proliferation of new and experimental techniques, many disorders are potential diagnosable or even treatable; however, risk factors are unknown and issues relating to quality control have not been resolved. These problems are readily appreciated in the dramatic new techniques involving recombinant DNA, chorion villus sampling, and fetal surgery. Unfortunately, clinicians may not appreciate the difficulties that may also be encountered in the more mundane prenatal diagnostic tests such as ultrasonography or enzymatic testing. The aim of this volume is to clarify and rationalize certain aspects of diagnosis, genetic counseling, and intervention. New and experimental techniques are presented in the light of current knowledge.
Urenkov, S B; Roslov, A L
Diagnostic ultrasonic investigation has found many applications in routine urologic practices. The use of ultrasound for the investigation of 19 patients with ureterocele is reported. High diagnostic value, simplicity and noninvasiveness of echographic diagnosis of this congenital malformation of distal ureteral portions and related complications are pointed out. Its advantages over conventional means of ureterocele diagnosis, such as excretory urography and cystoscopy, are demonstrated, while their shortcomings are avoided. Echography is particularly effective in cases of impaired renal activity, doubled upper urinary tract and segmentary ureterohydronephrosis. Ultrasound makes it possible to choose the type of surgical intervention, and exclude angiography from the diagnostic complex in some cases. Follow-up echographic examination after surgery for ureterocele provides adequate information on treatment results.
Vennewald, Irina; Klemm, Eckart
Aspergillus and Candida spp are the most frequently isolated fungi in patients with otomycosis. The diagnosis of otitis externa relies on the patient's history, otoscopic examination under microscopic control, and imaging studies. Direct preparation of the specimens, particularly with optical brighteners, mycologic culture, and histologic examination, is very important and strongly recommended for the correct diagnosis. Patients with noninvasive fungal otitis externa should be treated with intense débridement and cleansing, and topical antifungals. Topical antifungals, such as clotrimazole, miconazole, bifonazole, ciclopiroxolamine, and tolnaftate, are potentially safe choices for the treatment of otomycosis, especially in patients with a perforated eardrum. The oral triazole drugs, itraconazole, voriconazole, and posaconazole are effective against Candida and Aspergillus, with good penetration of bone and the central nervous system. These drugs are essential in the treatment of patients with malignant fungal otitis externa complicated by mastoiditis and meningitis.
Diagnosis If antibody tests and symptoms suggest celiac disease, the physician needs to establish the diagnosis by obtaining tiny pieces of tissue from the upper small intestine to check for damage ...
Mesquita, Ludmila de Sousa Ursino; Sherlock, Jonnia; Portugal, Fedro Menezes; Mota, Lívia de Souza; Fakhouri, Ricardo; da Silva, Samuel Freire
Ostraceous psoriasis is a rare form of psoriasis, characterized by lesions with firmly adhered thick scales, in various colors, with surfaces resembling oysters shells. The protracted course of clinical presentation allied with peculiar lesions and histopathological examination permit the diagnosis. Lesions are usually resistant to topical medications, requiring systemic treatment. It is important that dermatologists are able to diagnose the unusual forms of psoriasis to avoid iatrogeny. We report the case of a patient with ostraceous psoriasis treated with methotrexate. PMID:25184935
Hereditary angioedema is a rare disease, potentially life-threatening. It requires a specific treatment. Angioedema without wheals associated with abdominal attacks are very specific of this disease. Antigenemy and functional C1Inhibitor assays are necessary for the diagnosis. The hereditary angioedema with normal C1Inh (type III) is a diagnostic challenge. Bradykinin, secondary to kallikrein-kinin system activation is the key mediator of hereditary angioedema. Female are more symptomatic. Attacks can be induced by menstruations, pregnancies or contraceptive pills.
Wilkerson, Abby; Fisher, Joseph; Fletcher, Wade
Writing is central both to the medical diagnostic codification of disability and to disabled people's efforts to interrupt, complicate, or disrupt dominant medical narratives. This Symposium, like the George Washington University conference from which it takes its name, creates space for diverse modes and genres of claiming authority regarding diagnosis and its cultural and material effects. "Queer" and "crip" interrogations of diagnosis illuminate its status as a cultural phenomenon, embracing culturally disavowed embodiments and embodied experiences as tools for diagnosing inegalitarian social relations and opportunities for cultural interventions. This Symposium traces the workings of diagnostic normativity manifested in experiences such as "disruptive deafness," unstable bodily materialities, pathologized grief and other forms of affective distress, and "surgical assemblages." It presents a diverse array of compositions, articulated on each writer's own terms, addressing a range of embodied experiences through multiple genres and voices, ranging from conversation transcript to scholarly essay, poetry, graphic memoir, and personal essay. Here, laypersons interrupt monologic medical diagnosis, claiming space to compose themselves. Together, the authors trace instances of corporeal "correction" back to the noxious agents, both environmental and political, that consistently breach the boundaries of corporeality.
Preimplantational Genetics Diagnosis (PGD) is requested by geneticists and reproductive specialists. Usually geneticists ask for PGD because one or both members of the couple have an increased genetic risk for having an affected offspring. On the other hand, reproductive specialists ask for embryo aneuploidy screening (PGS) to assures an euploid embryo transfer, with the purpose to achieve an ongoing pregnancy, although the couple have normal karyotypes. As embryonic aneuploidies are responsible for pre and post implantation abortions, it is logical to considerer that the screening of the embryonic aneuploidies prior to embryo transfer could improve the efficiency of the in vitro fertilization procedures. Nevertheless, it is still premature to affirm this until well-designed clinical trials were done, especially in women of advanced age where the rate of embryos with aneuploidies is much greater. Although the indications of PGD are similar to conventional prenatal diagnosis (PND), PGD has less ethical objections than the PND. As with the PGD/PGS results only unaffected embryos are transferred, both methods can avoid the decision to interrupt the pregnancy due to a genetic problem; this makes an important difference when compared to conventional prenatal diagnosis. PMID:24764761
Preimplantational Genetics Diagnosis (PGD) is requested by geneticists and reproductive specialists. Usually geneticists ask for PGD because one or both members of the couple have an increased genetic risk for having an affected offspring. On the other hand, reproductive specialists ask for embryo aneuploidy screening (PGS) to assures an euploid embryo transfer, with the purpose to achieve an ongoing pregnancy, although the couple have normal karyotypes. As embryonic aneuploidies are responsible for pre and post implantation abortions, it is logical to considerer that the screening of the embryonic aneuploidies prior to embryo transfer could improve the efficiency of the in vitro fertilization procedures. Nevertheless, it is still premature to affirm this until well-designed clinical trials were done, especially in women of advanced age where the rate of embryos with aneuploidies is much greater. Although the indications of PGD are similar to conventional prenatal diagnosis (PND), PGD has less ethical objections than the PND. As with the PGD/PGS results only unaffected embryos are transferred, both methods can avoid the decision to interrupt the pregnancy due to a genetic problem; this makes an important difference when compared to conventional prenatal diagnosis.
Bermingham, A; Heinen, P; Iturriza-Gómara, M; Gray, J; Appleton, H; Zambon, M C
The emergence of new viral infections of man requires the development of robust diagnostic tests that can be applied in the differential diagnosis of acute illness, or to determine past exposure, so as to establish the true burden of disease. Since the recognition in April 2003 of the severe acute respiratory syndrome coronavirus (SARS-CoV) as the causative agent of severe acute respiratory syndrome (SARS), enormous efforts have been applied to develop molecular and serological tests for SARS which can assist rapid detection of cases, accurate diagnosis of illness and the application of control measures. International progress in the laboratory diagnosis of SARS-CoV infection during acute illness has led to internationally agreed World Health Organization criteria for the confirmation of SARS. Developments in the dissection of the human immune response to SARS indicate that serological tests on convalescent sera are essential to confirm SARS infection, given the sub-optimal predictive value of molecular detection tests performed during acute SARS illness. PMID:15306394
Lewis-Fernández, Roberto; Aggarwal, Neil Krishan
Since the publication of DSM-IV in 1994, neurobiologists and anthropologists have criticized the rigidity of its diagnostic criteria that appear to exclude whole classes of alternate illness presentations, as well as the lack of attention in contemporary psychiatric nosology to the role of contextual factors in the emergence and characteristics of psychopathology. Experts in culture and mental health have responded to these criticisms by revising the very process of diagnosis for DSM-5. Specifically, the DSM-5 Cultural Issues Subgroup has recommended that concepts of culture be included more prominently in several areas: an introductory chapter on Cultural Aspects of Psychiatric Diagnosis - composed of a conceptual introduction, a revised Outline for Cultural Formulation, a Cultural Formulation Interview that operationalizes this Outline, and a glossary on cultural concepts of distress - as well as material directly related to culture that is incorporated into the description of each disorder. This chapter surveys these recommendations to demonstrate how culture and context interact with psychiatric diagnosis at multiple levels. A greater appreciation of the interplay between culture, context, and biology can help clinicians improve diagnostic and treatment planning.
Brancaleoni, V; Di Pierro, E; Motta, I; Cappellini, M D
The thalassemias can be defined as α- or β-thalassemias depending on the defective globin chain and on the underlying molecular defects. The recognition of carriers is possible by hematological tests. Both α- and β-thalassemia carriers (heterozygotes) present with microcytic hypochromic parameters with or without mild anemia. Red cell indices and morphology followed by separation and measurement of Hb fractions are the basis for identification of carriers. In addition, iron status should be ascertained by ferritin or zinc protoporphyrin measurements and the iron/total iron-binding capacity/saturation index. Mean corpuscular volume and mean corpuscular hemoglobin are markedly reduced (mean corpuscular volume: 60-70 fl; MCH: 19-23 pg) in β-thalassemia carriers, whereas a slight to relevant reduction is usually observed in α-carriers. HbA2 determination is the most decisive test for β-carrier detection although it can be disturbed by the presence of δ-thalassemia defects. In α-thalassemia, HbA2 can be lower than normal and it assumes significant value when iron deficiency is excluded. Several algorithms have been introduced to discriminate from thalassemia carriers and subjects with iron-deficient anemia; because the only discriminating parameter is the red cell counts, these formulas must be used consciously. Molecular analysis is not required to confirm the diagnosis of β-carrier, but it is necessary to confirm the α-thalassemia carrier status. The molecular diagnosis is essential to predict severe transfusion-dependent and intermediate-to-mild non-transfusion-dependent cases. DNA analysis on chorionic villi is the approach for prenatal diagnosis and the methods are the same used for mutations detection, according to the laboratory facilities and expertise.
Greiwe, Justin; Bernstein, Jonathan A
Nonallergic rhinitis (NAR) is one of the most common conditions in medicine, affecting the quality of life of millions of patients throughout the United States. Despite its ubiquitous nature, NAR remains a poorly managed and often difficult to treat condition. NAR is often suboptimally managed by clinicians with poor clinical outcomes. Establishing the correct diagnosis requires a keen understanding of the unique underlying mechanisms involved in NAR, which is still evolving. Ultimately epidemiologic studies that better define NAR prevalence and its economic burden on society are needed to convince funding agencies of the need for research to elucidate mechanisms and specific treatment approaches for this condition.
Oh, Chang Hyun; Kim, Chan Gyu; Lee, Jae-Hwan; Park, Hyeong-Chun; Park, Chong Oon
Study Design Prospective, randomized, controlled human study. Purpose We checked the proportion of missed syrinx diagnoses among the examinees of the Korean military conscription. Overview of Literature A syrinx is a fluid-filled cavity within the spinal cord or brain stem and causes various neurological symptoms. A syrinx could easily be diagnosed by magnetic resonance image (MRI), but missed diagnoses seldom occur. Methods In this study, we reviewed 103 cases using cervical images, cervical MRI, or whole spine sagittal MRI, and syrinxes was observed in 18 of these cases. A review of medical certificates or interviews was conducted, and the proportion of syrinx diagnoses was calculated. Results The proportion of syrinx diagnoses was about 66.7% (12 cases among 18). Missed diagnoses were not the result of the length of the syrinx, but due to the type of image used for the initial diagnosis. Conclusions The missed diagnosis proportion of the syrinx is relatively high, therefore, a more careful imaging review is recommended. PMID:22439081
Djukić, Slobodanka; Ćirković, Ivana; Arsić, Biljana; Garalejić, Eliana
Bacterial vaginosis is a common, complex clinical syndrome characterized by alterations in the normal vaginal flora. When symptomatic, it is associated with a malodorous vaginal discharge and on occasion vaginal burning or itching. Under normal conditions, lactobacilli constitute 95% of the bacteria in the vagina. Bacterial vaginosis is associated with severe reduction or absence of the normal H2O2-producing lactobacilli and overgrowth of anaerobic bacteria and Gardnerella vaginalis, Atopobium vaginae, Mycoplasma hominis and Mobiluncus species. Most types of infectious disease are diagnosed by culture, by isolating an antigen or RNA/DNA from the microbe, or by serodiagnosis to determine the presence of antibodies to the microbe. Therefore, demonstration of the presence of an infectious agent is often a necessary criterion for the diagnosis of the disease. This is not the case for bacterial vaginosis, since the ultimate cause of the disease is not yet known. There are a variety of methods for the diagnosis of bacterial vaginosis but no method can at present be regarded as the best. Diagnosing bacterial vaginosis has long been based on the clinical criteria of Amsel, whereby three of four defined criteria must be satisfied. Nugent's scoring system has been further developed and includes validation of the categories of observable bacteria structures. Up-to-date molecular tests are introduced, and better understanding of vaginal microbiome, a clear definition for bacterial vaginosis, and short-term and long-term fluctuations in vaginal microflora will help to better define molecular tests within the broader clinical context.
Guimarães, Allan Jefferson; Nosanchuk, Joshua D.; Zancopé-Oliveira, Rosely Maria
Endemic mycoses can be challenging to diagnose and accurate interpretation of laboratory data is important to ensure the most appropriate treatment for the patients. Although the definitive diagnosis of histoplasmosis (HP), one of the most frequent endemic mycoses in the world, is achieved by direct diagnosis performed by micro and/or macroscopic observation of Histoplasma capsulatum (H. capsulatum), serologic evidence of this fungal infection is important since the isolation of the etiologic agents is time-consuming and insensitive. A variety of immunoassays have been used to detect specific antibodies to H. capsulatum. The most applied technique for antibody detection is immunodiffusion with sensitivity between 70 to 100 % and specificity of 100%, depending on the clinical form. The complement fixation (CF) test, a methodology extensively used on the past, is less specific (60 to 90%). Detecting fungal antigens by immunoassays is valuable in immunocompromised individuals where such assays achieve positive predictive values of 96–98%. Most current tests in diagnostic laboratories still utilize unpurified antigenic complexes from either whole fungal cells or their culture filtrates. Emphasis has shifted, however, to clinical immunoassays using highly purified and well-characterized antigens including recombinant antigens. In this paper, we review the current conventional diagnostic tools, such as complement fixation and immunodiffusion, outline the development of novel diagnostic reagents and methods, and discuss their relative merits and disadvantages to the immunodiagnostic of this mycosis. PMID:20445761
Babic-Erceg, Andrea; Karlovic-Martinkovic, Diana; Santini, Marija; Persic, Zdenka; Vilibic-Cavlek, Tatjana
A 25-years old man from Zagreb, Croatia, was admitted to the University Hospital for Infectious Diseases four days after the onset of symptoms such as fever, intense pain in the calves and anuria. The patient owned a rabbit and, before the onset of the disease, repaired some rubber pipes damaged by rodents. At admission, he had a severe clinical picture with fever, hypotension, jaundice, immobility, and pain in leg muscles. Treatment with ceftriaxone was initiated in combination with volume restitution. Renal failure soon ensued. Consequently continuous venovenous hemodiaphiltration therapy was performed. Due to acute respiratory distress syndrome, the patient was mechanically ventilated. The patient’s condition gradually improved and he recovered fully from multi-organ failure. Diagnosis was confirmed by a microscopic agglutination test (MAT) covering 15 leptospira serovars and real-time polymerase-chain reaction (PCR). The first serum sample taken on day 6 tested negative for leptospira, while PCR showed positive results for leptospiral DNA. The second serum sample taken on day 13 tested positive for serovar Canicola serogroup Canicola, serovar Patoc, serovar Grippotyphosa serogroup Grippotyphosa and serovar Tarassovi serogroup Tarassovi (titre 4000, 4000, 1000 and 2000, respectively), while PCR was negative. This report highlights the benefits of combining MAT and PCR methods in early diagnosis of leptospirosis. PMID:25002958
Thompson, Chris; Berl, Tomas; Tejedor, Alberto; Johannsson, Gudmundur
The appropriate management of hyponatraemia is reliant on the accurate identification of the underlying cause of the hyponatraemia. In the light of evidence which has shown that the use of a clinical algorithm appears to improve accuracy in the differential diagnosis of hyponatraemia, the European Hyponatraemia Network considered the use of two algorithms. One was developed from a nephrologist's view of hyponatraemia, while the other reflected the approach of an endocrinologist. Both of these algorithms concurred on the importance of assessing effective blood volume status and the measurement of urine sodium concentration in the diagnostic process. To demonstrate the importance of accurate diagnosis to the correct treatment of hyponatraemia, special consideration was given to hyponatraemia in neurosurgical patients. The differentiation between the syndrome of inappropriate antidiuretic hormone secretion (SIADH), acute adrenocorticotropic hormone (ACTH) deficiency, fluid overload and cerebral salt-wasting syndrome was discussed. In patients with SIADH, fluid restriction has been the mainstay of treatment despite the absence of an evidence base for its use. An approach to using fluid restriction to raise serum tonicity in patients with SIADH and to identify patients who are likely to be recalcitrant to fluid restriction was also suggested.
Hohl, Alexandre; Ronsoni, Marcelo Fernando; Oliveira, Mônica de
Hirsutism is defined as excessive terminal hair growth in androgen-dependent areas of the body in women, which grows in a typical male distribution pattern. Hirsutism is a common clinical problem in women, and the treatment depends on the cause. The condition is often associated with a loss of self-esteem. Hirsutism reflects the interaction between circulating androgen concentrations, local androgen concentrations, and the sensitivity of the hair follicle to androgens. Polycystic ovary syndrome and idiopathic hirsutism are the most common causes of the condition. A woman's history and, physical examination are particularly important in evaluating excess hair growth. The vast majority of women with hirsutism have the idiopathic variety, and the diagnosis is made by exclusion. Serum testosterone level>200 ng/dL is highly suggestive of adrenal or ovarian tumor. Treatment of hirsutism should be based on the degree of excess hair growth presented by the patient and in the pathophysiology of the disorder. Treatment includes lifestyle therapies, androgen suppression, peripheral androgen blockage, and cosmetic treatments. The current review discusses deﬁnition, pathogenesis, physiopathology, differential diagnosis, diagnostic strategies, and treatment.
AD GRANT NUMBER DAMD17-94-J-4033 TITLE: Molecular Diagnosis for Breast Malignancy PRINCIPAL INVESTIGATOR: Wen-Tien Chen, Ph.D. CONTRACTING...Biomedical Laboratories. - Signature -^yjgf Wen-Tien Chen, Ph.D. Page 4 Molecular diagnosis for breast malignancy (1) FRONT COVER: (2) SF 298...June 8-9, 1995 (abstract). Chen, W.-T, Goldstein LA, Pineiro-Sänchez M, Howard L, Ghersi G, Salamone M, Flessate D, Yeh Y. 1977. " Molecular Diagnosis for
Fabre, Andréa Buosi; Passos, Paola C. Vieira da Rosa; de Lima, Brunno Zeni; Fabricio, Lincoln; Fillus, José; Bonalumi, Aguinaldo
Intravascular papillary endothelial hyperplasia is a benign vascular lesion caused by proliferation of endothelium. It is reactive to thrombotic or inflammatory stimuli in the vessel wall.We report the case of a 14-yearold male patient with a violet-colored erythematous tumoral lesion of progressive growth in the occipital region. The diagnosis of intravascular papillary endothelial hyperplasia (IPEH) was confirmed by clinical and histopathological findings. Total lesion exeresis was performed with no recurrence up to date. IPEH presents clinical importance due to its clinical and histological resemblance to angiosarcoma. In order to differentiate it from angiosarcoma, distinguishing features of the benign disease should be considered, such as lack of cellular atypia and rare mitotic activity.Prognosis is good. PMID:25054765
Bloos, Frank; Reinhart, Konrad
Fast and appropriate therapy is the cornerstone in the therapy of sepsis. However, the discrimination of sepsis from non-infectious causes of inflammation may be difficult. Biomarkers have been suggested to aid physicians in this decision. There is currently no biochemical technique available which alone allows a rapid and reliable discrimination between sepsis and non-infectious inflammation. Procalcitonin (PCT) is currently the most investigated biomarker for this purpose. C-reactive protein and interleukin 6 perform inferior to PCT in most studies and their value in diagnosing sepsis is not defined. All biomarkers including PCT are also released after various non-infectious inflammatory impacts. This shortcoming needs to be taken into account when biomarkers are used to aid the physician in the diagnosis of sepsis. Polymerase chain reaction (PCR) based pathogen detection may improve time to adequate therapy but cannot rule out the presence of infection when negative. PMID:24335467
McIlraith, Sheila; Biswas, Gautam; Clancy, Dan; Gupta, Vineet
This paper reports on an on-going Project to investigate techniques to diagnose complex dynamical systems that are modeled as hybrid systems. In particular, we examine continuous systems with embedded supervisory controllers that experience abrupt, partial or full failure of component devices. We cast the diagnosis problem as a model selection problem. To reduce the space of potential models under consideration, we exploit techniques from qualitative reasoning to conjecture an initial set of qualitative candidate diagnoses, which induce a smaller set of models. We refine these diagnoses using parameter estimation and model fitting techniques. As a motivating case study, we have examined the problem of diagnosing NASA's Sprint AERCam, a small spherical robotic camera unit with 12 thrusters that enable both linear and rotational motion.
Scolari, Francesco; Savoldi, Gianfranco; Mazza, Cinzia; Izzi, Claudia
Most patients with ADPKD do not need molecular genetic testing. When indicated, Sanger sequencing is the most commonly used technique. When a pathogenic mutation is not identiﬁed by Sanger, multiplex ligation-dependent probe ampliﬁcation analysis (MLPA) should be performed to detect gene rearrangement (insertion or deletion). The next generation sequencing (NGS) techniques can provide high-throughput and comprehensive diagnostic screening at lower cost. Finally, in the future, targeted (TS) or whole exome sequencing (WES) will likely play a role in the molecular diagnostics of ADPKD. Molecular genetic testing is indicated in several conditions: no family history; equivocal/atypical renal imaging; marked discordant disease within family; early and severe PKD; reproductive counseling and pre-implantation genetic diagnosis; related living donor transplantation.
Photobacteriosis or fish pasteurellosis is a bacterial disease affecting wild and farm fish. Its etiological agent, the gram negative bacterium Photobacterium damselae subsp. piscicida, is responsible for important economic losses in cultured fish worldwide, in particular in Mediterranean countries and Japan. Efforts have been focused on gaining a better understanding of the biology of the pathogenic microorganism and its natural hosts with the aim of developing effective vaccination strategies and diagnostic tools to control the disease. Conventional vaccinology has thus far yielded unsatisfactory results, and recombinant technology has been applied to identify new antigen candidates for the development of subunit vaccines. Furthermore, molecular methods represent an improvement over classical microbiological techniques for the identification of P. damselae subsp. piscicida and the diagnosis of the disease. The complete sequencing, annotation, and analysis of the pathogen genome will provide insights into the pathogen laying the groundwork for the development of vaccines and diagnostic methods. PMID:24982922
Hyperthyroidism is an excessive concentration of thyroid hormones in tissues caused by increased synthesis of thyroid hormones, excessive release of preformed thyroid hormones, or an endogenous or exogenous extrathyroidal source. The most common causes of an excessive production of thyroid hormones are Graves disease, toxic multinodular goiter, and toxic adenoma. The most common cause of an excessive passive release of thyroid hormones is painless (silent) thyroiditis, although its clinical presentation is the same as with other causes. Hyperthyroidism caused by overproduction of thyroid hormones can be treated with antithyroid medications (methimazole and propylthiouracil), radioactive iodine ablation of the thyroid gland, or surgical thyroidectomy. Radioactive iodine ablation is the most widely used treatment in the United States. The choice of treatment depends on the underlying diagnosis, the presence of contraindications to a particular treatment modality, the severity of hyperthyroidism, and the patient's preference.
Hypersomnia includes a group of disorders in which the primary complaint is excessive daytime sleepiness. Chronic hypersomnia is characterized by at least 3 months of excessive sleepiness prior to diagnosis and may affect 4% to 6% of the population. The severity of daytime sleepiness needs to be quantified by subjective scales (at least the Epworth sleepiness scale) and objective tests such as the multiple sleep latency test. Chronic hypersomnia does not correspond to an individual clinical entity but includes numerous different etiologies of hypersomnia as recently reported in the revised International Classification of Sleep Disorders. This review details most of those disorders, including narcolepsy with and without cataplexy, idiopathic hypersomnia with and without long sleep time, recurrent hypersomnia, behaviorally induced insufficient sleep syndrome, hypersomnia due to medical condition, hypersomnia due to drug or substance, hypersomnia not due to a substance or known physiologic condition, and also sleep-related disordered breathing and periodic leg movement disorders.
Busiah, K; Belien, V; Dallot, N; Fila, M; Guilbert, J; Harroche, A; Leger, J
Puberty is the phenomenon that conducts once to reproductive maturation. Delayed puberty (DP) is defined by the absence of testicular development in boys beyond 14 years old (or a testicular volume lower than 4 ml) and by the absence of breast development in girls beyond 13 years old. DP occurs in approximatively 3% of cases. Most cases are functional DP, with a large amount of constitutional delay of puberty. Others etiologies are hypogonadotrophic hypogonadism like Kallmann syndrome, or hypergonadotrophic hypogonadism. Turner syndrome is a diagnostic one should not forget by its frequency. Treatment is hormonal replacement therapy and of the etiology. During the last decade, many genes have been identified and elucidated the etiological diagnosis of some hypogonadotrophic hypogonadism syndrome. Further studies are required in collaboration with molecular biologists to better understand the mechanism of hypothalamic pituitary gonadal axis abnormalities and of the neuroendocrine physiology of the onset of puberty.
Tu, Priscilla; Bytomski, Jeffrey R
Heel pain is a common presenting symptom in ambulatory clinics. There are many causes, but a mechanical etiology is most common. Location of pain can be a guide to the proper diagnosis. The most common diagnosis is plantar fasciitis, a condition that leads to medial plantar heel pain, especially with the first weight-bearing steps in the morning and after long periods of rest. Other causes of plantar heel pain include calcaneal stress fracture (progressively worsening pain following an increase in activity level or change to a harder walking surface), nerve entrapment (pain accompanied by burning, tingling, or numbness), heel pad syndrome (deep, bruise-like pain in the middle of the heel), neuromas, and plantar warts. Achilles tendinopathy is a common condition that causes posterior heel pain. Other tendinopathies demonstrate pain localized to the insertion site of the affected tendon. Posterior heel pain can also be attributed to a Haglund deformity, a prominence of the calcaneus that may cause bursa inflammation between the calcaneus and Achilles tendon, or to Sever disease, a calcaneal apophysitis in children. Medial midfoot heel pain, particularly with continued weight bearing, may be due to tarsal tunnel syndrome, which is caused by compression of the posterior tibial nerve as it courses through the flexor retinaculum, medial calcaneus, posterior talus, and medial malleolus. Sinus tarsi syndrome occurs in the space between the calcaneus, talus, and talocalcaneonavicular and subtalar joints. The syndrome manifests as lateral midfoot heel pain. Differentiating among causes of heel pain can be accomplished through a patient history and physical examination, with appropriate imaging studies, if indicated.
Melanoma therapy has undergone a paradigm shift. Classic chemotherapies with poor treatment responses have been replaced by modern immune checkpoint blockades and targeted therapies with excellent responses. The latter require precise diagnosis of mutations in the melanoma genome as molecular targets for the small molecules. The diagnosis of melanomas has also been supplemented by molecular techniques. Differential diagnosis of melanoma and melanoma simulators such as atypical Spitz nevi can be supported by fluorescence in situ hybridization (FISH) and comparative genomic hybridization (CGH). Here we review the indications and methods for molecular diagnosis of melanocytic tumors.
Porter, I.H.; Hatcher, N.H.; Willey, A.M.
This book consists of six sections, each containing several chapters. Some of the chapter titles are: Prenatal Diagnosis of the Fragile X Syndrome; Prenatal Genetic Diagnosis by Chorionic Villus Sampling; Prenatal Treatment of Biochemical Disorders; H-Y Antigen, Sex Determination and Gender Control; and Environmental Factors and Human Birth Defects: Interpretation of Relative Risks in Clinical Genetics.
Sprott, H; Hein, G; Domke, D; Künzel, N; Uhlemann, C; Wollina, U; Stein, G
Problems are frequently encountered regarding the terminology, diagnosis, differential diagnosis, and therapy of diseases of thes tendons insertion point (enthesis): Terms such as tendinosis, tenopathy, tendinitis, tendovaginitis, tendoperiostitis, insertions tenopathy, tendomyosis, etc. often are used interchangeably even through they describe anatomically and pathophysiologically different conditions. The term enthesiopathy is used as a generic term in this overview article irrespective of the causality.
Kübler, Eric; Oesch, Bruno; Raeber, Alex J
Prion diseases are usually diagnosed clinically and confirmed by post-mortem histopathological examination of brain tissue. The only reliable molecular marker for prion diseases is PrP(Sc), the pathological conformer of the prion protein that accumulates in the central nervous system and, to a lesser extent, in lymphoreticular tissues. For BSE, several commercial diagnostic kits based on the post-mortem immunochemical detection of PrP(Sc) in brain tissue are now available. These rapid screening tests have been used in active surveillance of BSE and have greatly improved the detection of infected cattle before their entry into the human food chain. At present, no diagnostic test exists for the detection of prion diseases in live animals or humans. New diagnostic techniques aimed at increasing sensitivity and specificity of PrP(Sc) detection in body fluids and at identifying novel surrogate markers are under development. In this report, we review the classical diagnostic methods as well as present and future tools for the diagnosis of prion diseases.
McKeon, A.; Leite, M.I.; Rajasekharan, S.; Lennon, V.A.; Villalobos, A.; Palace, J.; Mandrekar, J.N.; Vincent, A.; Bar-Or, A.
Objectives: Neuromyelitis optica (NMO) immunoglobulin G (IgG) (aquaporin-4 [AQP4] IgG) is highly specific for NMO and related disorders, and autoantibody detection has become an essential investigation in patients with demyelinating disease. However, although different techniques are now used, no multicenter comparisons have been performed. This study compares the sensitivity and specificity of different assays, including an in-house flow cytometric assay and 2 commercial assays (ELISA and transfected cell-based assay [CBA]). Methods: Six assay methods (in-house or commercial) were performed in 2 international centers using coded serum from patients with NMO (35 patients), NMO spectrum disorders (25 patients), relapsing-remitting multiple sclerosis (39 patients), miscellaneous autoimmune diseases (25 patients), and healthy subjects (22 subjects). Results: The highest sensitivities were yielded by assays detecting IgG binding to cells expressing recombinant AQP4 with quantitative flow cytometry (77; 46 of 60) or visual observation (CBA, 73%; 44 of 60). The fluorescence immunoprecipitation assay and tissue-based immunofluorescence assay were least sensitive (48%–53%). The CBA and ELISA commercial assays (100% specific) yielded sensitivities of 68% (41 of 60) and 60% (36 of 60), respectively, and sensitivity of 72% (43 of 60) when used in combination. Conclusions: The greater sensitivity and excellent specificity of second-generation recombinant antigen-based assays for detection of NMO-IgG in a clinical setting should enable earlier diagnosis of NMO spectrum disorders and prompt initiation of disease-appropriate therapies. PMID:22302543
de Souza, Márcio Passini Gonçalves
Articles that update the state of knowledge regarding osteoporosis run the risk of quickly becoming obsolete because research and studies on osteoporosis today are arousing great interest among researchers, the pharmaceutical and medical equipment industries, governments and even WHO. All orthopedists know about osteoporosis because of its most deleterious effect: osteoporotic fracture. Osteoporosis without fractures does not arouse suspicion because this is a pathological condition with a nonspecific clinical profile. Osteoporotic fractures have an economic cost (from treatment), a social cost (from its sequelae) and a medical cost (from deaths). Many fractures could be avoided through diagnosing osteoporosis prior to the first fracture and thus many temporary and permanent disabilities could be avoided and many lives saved. Awareness of the risk factors for osteoporosis raises suspicions and bone densitometry aids in diagnosis. Treatment should be based on the physiopathology of the disease. Hence, for prevention or treatment of osteoporosis, the activity of osteoclasts should be diminished or the activity of osteoblasts should be increased, or both. Treatment that reduces the incidence of fractures by improving the bone geometry and microarchitecture would be ideal. Newly formed bone tissue needs to have good cell and matrix quality, normal mineralization, a good ratio between mineralized (mechanically resistant) and non-mineralized (flexible) bone, and no accumulated damage. The ideal treatment should have a positive remodeling rate and fast and long-lasting therapeutic effects. Such effects need to be easily detectable. They need to be safe.
Sigurdson, C.J.; Franson, J.C.; Fudge, A.M.
This chapter describes the sources and pathophysiology of some potential poisons that affect birds and summarizes useful laboratory tests. The diagnosis of poisoning in birds, as in mammals, requires a complete and accurate history, careful observation of clinical signs, and a thorough necropsy evaluation. Appropriate sample handling and analysis, based on consultation with the diagnostic toxicologist, are critical (Table 19--1). Veterinary toxicology laboratories are becoming increasingly specialized, with only certain laboratories capable of analyzing for drug residues or anticoagulants, for example. Although a local laboratory may not be able to fulfill a specific test request, they may recommend an alternative laboratory or may be willing to forward the sample. As a general rule in suspect poisoning cases, large tissue samples of liver, kidney, brain, and subcutaneous fat and of crop, proventriculus, and ventriculus contents should be collected at necropsy and frozen. Appropriate samples should be submitted frozen, with the remainder held in the freezer for possible later testing. A second set of tissues should be placed in 10% formalin for histopathologic examination.
Brain death has been recognized by the scientific community as the person's death, and accepted in the legislation of different countries. Brain death is defined as the irreversible ending of the functions of all the intracranial neurological structure in both the brain and brain stem. This clinical situation appears when intracranial pressure exceeds the patient's systolic blood pressure, leading to brain circulatory arrest. The most frequent are cerebral hemorrhage and cranioencephalic trauma. Clinical diagnostic must be done by doctors with expertise in neurocritical patient treatment. This diagnosis is based on a systematic, complete and extremely rigorous clinical examination that confirms a non-reactive coma, absence of brain stem reflex, and absence of spontaneous breathing. Instrumental tests may be obligatory in some cases, this depending on each country. Electroencephalogram and evoked potentials are the electrophysiological tests used. In patients treated with sedative drugs, cerebral blood flow evaluation tests, such as cerebral angiography, transcranial Doppler or 99Tc-HMPAO scintigraphy, will be used. More than 92% of the transplants performed in Spain are performed with brain death donor organs. Brain death confirmation is a high responsibility act, with medical, ethical and legal significance since it requires removal of all artificial support, or organs extraction for transplant. Extensive knowledge on its diagnostic and correct decision making avoid unnecessary use of resources and improves management of organs for transplant.
de Souza, Márcio Passini Gonçalves
Articles that update the state of knowledge regarding osteoporosis run the risk of quickly becoming obsolete because research and studies on osteoporosis today are arousing great interest among researchers, the pharmaceutical and medical equipment industries, governments and even WHO. All orthopedists know about osteoporosis because of its most deleterious effect: osteoporotic fracture. Osteoporosis without fractures does not arouse suspicion because this is a pathological condition with a nonspecific clinical profile. Osteoporotic fractures have an economic cost (from treatment), a social cost (from its sequelae) and a medical cost (from deaths). Many fractures could be avoided through diagnosing osteoporosis prior to the first fracture and thus many temporary and permanent disabilities could be avoided and many lives saved. Awareness of the risk factors for osteoporosis raises suspicions and bone densitometry aids in diagnosis. Treatment should be based on the physiopathology of the disease. Hence, for prevention or treatment of osteoporosis, the activity of osteoclasts should be diminished or the activity of osteoblasts should be increased, or both. Treatment that reduces the incidence of fractures by improving the bone geometry and microarchitecture would be ideal. Newly formed bone tissue needs to have good cell and matrix quality, normal mineralization, a good ratio between mineralized (mechanically resistant) and non-mineralized (flexible) bone, and no accumulated damage. The ideal treatment should have a positive remodeling rate and fast and long-lasting therapeutic effects. Such effects need to be easily detectable. They need to be safe. PMID:27022545
The whole examination of oral cavity, other mucosae and skin is required when managing a cheilitis. Irritants (climatic, mechanical, caustic agents...) constitute the main aetiological factors of cheilitis. Allergic contact cheilitis should be investigated with a detailed anamnesis in order to search any causative agent in contact with the oral mucosae. Patch testing is required to confirm the diagnosis of delayed hypersensivity. Chronic actinic cheilitis occurs mostly in middle-aged, fair-skinned men. It is a potentially malignant condition that requires biopsies to exclude severe dysplasia or carcinoma. Angular cheilitis can occur spontaneously but is frequently related with several precipitating factors, such as systemic immune suppression, local irritation and moisture, fungal and/or bacterial infection. Cheilitis can also be seen in various systemic conditions such as lichen planus, lupus, atopic dermatitis and nutritional deficiencies. Erosive and crusty cheilitis and bullous erosive stomatitis are the main oral features of erythema multiforme and Stevens-Johnson syndrome. Granulomatous macrocheilitis (cheilitis granulomatosa) presents with intermittent or permanent lip swelling. It should be confirmed by a biopsy. It can be either isolated (Miescher macrocheilitis) or associated with various systemic conditions.
Ewing, Graham Wilfred; Ewing, Elena Nikolayevna
This article reports upon the emergence of a novel cognitive, computer-based technology which may lead to significantly improved methods of cardiological diagnosis and a rapid and inexpensive method of cardiological screening. The technology ‘Virtual Scanning’ illustrates how, in blood, the reaction of proteins and their reactive substrates releases light; that the colour and intensity of this bioluminescence is unique to each reaction and it's rate; and that the development of pathologies influence cognition and visual perception. This illustrates that the function of the autonomic nervous system is linked to that of the physiological systems and that the rate of biochemical reactions, and the progression of disease, can be measured by a cognitive test procedure and used as an indication of the disease(s) affecting heart function. The article discusses the limitations of the conventional biomarker technique, and the potential value of non-invasive cognitive techniques, such as Virtual Scanning, to the medical practitioner. Finally, it discusses how the ability of Virtual Scanning to diagnose disease from its presymptomatic origins may lead to improved diagnostic accuracy and significantly reduced costs. PMID:22666689
Matsubayashi, Hiroyuki; Kakushima, Naomi; Takizawa, Kohei; Tanaka, Masaki; Imai, Kenichiro; Hotta, Kinichi; Ono, Hiroyuki
Autoimmune pancreatitis (AIP) is a distinct form of chronic pancreatitis that is increasingly being reported. The presentation and clinical image findings of AIP sometimes resemble those of several pancreatic malignancies, but the therapeutic strategy differs appreciably. Therefore, accurate diagnosis is necessary for cases of AIP. To date, AIP is classified into two distinct subtypes from the viewpoints of etiology, serum markers, histology, other organ involvements, and frequency of relapse: type 1 is related to IgG4 (lymphoplasmacytic sclerosing pancreatitis) and type 2 is related to a granulocytic epithelial lesion (idiopathic duct-centric chronic pancreatitis). Both types of AIP are characterized by focal or diffuse pancreatic enlargement accompanied with a narrowing of the main pancreatic duct, and both show dramatic responses to corticosteroid. Unlike type 2, type 1 is characteristically associated with increasing levels of serum IgG4 and positive serum autoantibodies, abundant infiltration of IgG4-positive plasmacytes, frequent extrapancreatic lesions, and relapse. These findings have led several countries to propose diagnostic criteria for AIP, which consist of essentially similar diagnostic items; however, several differences exist for each country, mainly due to differences in the definition of AIP and the modalities used to diagnose this disease. An attempt to unite the diagnostic criteria worldwide was made with the publication in 2011 of the international consensus diagnostic criteria for AIP, established at the 2010 Congress of the International Association of Pancreatology (IAP).
Laking, George; Lord, Joanne; Fischer, Alastair
Any population can be divided into two groups, one with the presence of a given disease or condition, and the other without. Diagnosis consists of using tests to sort the population into these groups. Diagnostic tests use a threshold value of a diagnostic variable to distinguish between disease-positive and disease-negative individuals. The analysis of error in diagnostic tests has typically been undertaken using receiver-operator characteristic (ROC) curves. More recently, economic value of information (VOI) methods have characterised the costs and consequences of testing. This paper develops a new method for economic test evaluation, which we call ROTS analysis. The ROTS curve plots the costs and effects of changing test thresholds, in cost-effectiveness space. We illustrate the use of our method with a worked example, and show how it can answer three key questions: (1) Is there any test that is worth doing? (2) What is a test's optimum operating point in terms of sensitivity and specificity? (3) If two tests are available, which is best? We contrast the merits of our method with those of established ROC and VOI analysis. We argue that ROTS analysis more clearly reveals the link between changing test thresholds and the cost-effectiveness of different treatments.
Yotsu, Rie Roselyne; Suzuki, Koichi; Mori, Shuichi; Ishii, Norihisa
The Leprosy Mailing List (LML) is an e-mailing list open to whoever interested in the field from all over the world. It acts as a forum for exchanging information related to Hansen's disease. It was established in February 2001 in Italy, and the present moderator of the LML is Dr. Salvatore Noto. He and his colleague have recently introduced an atlas for diagnosing Hansen's disease which they brought together information and photos collected through the LML. The atlas is divided into three sections, (1) Introduction, (2) Cardinal signs, and (3) Diagnosis and the clinical spectrum of leprosy, and they are all accompanied with relevant photos. This time, Dr. Noto kindly permitted us to translate the atlas into Japanese to be published in the Japanese Journal of Leprosy and posted in the Japanese Leprosy Association homepage. This article includes the translation and some of the most informative photos. For more information, please refer to the homepage where you will find all photos in the atlas.
Chabasse, D; Pihet, M
Onychomycosis represents about 50% of ungueal pathology. Dermatophytes (especially Trichophyton rubrum and Trichophyton interdigitale) are the main species involved in tinea pedis. Yeasts of the Candida (Candida albicans, Candida parapsilosis,...) genus are predominant on hands and very often associated with ungueal disease and perionyxis. Fungi other than the classic dermatophytes and yeasts can be rarely isolated from nail diseases. Among them, species belonging to Scopulariopsis, Aspergillus and Fusarium genus are mainly found, but their involvement in the disease must be proved. Other fungi, presenting a special affinity to keratin (pseudodermatophytes), such as Neoscytalidium dimidiatum (ex Scytalidium dimidiatum) from tropical and subtropical areas and Onychocola canadensis from Northern America and Europe, are considered as real pathogens in nail diseases. A multidisciplinary approach, including clinicians and biologists, is required to confirm the mycosis. This comparative review emphasizes the importance of histological examination, as well as molecular approaches, which are very contributive to the diagnosis of onychomycosis. The role of the laboratory is to identify at the species level the fungus isolated from nail scrapings and to show its involvement in the ungueal lesions.
Sharp, Susan E; Gelfand, Michael J; Shulkin, Barry L
Neuroblastoma is the most common pediatric extracranial soft-tissue tumor, accounting for approximately 8% of childhood malignancies. Its prognosis is widely variable, ranging from spontaneous regression to fatal disease despite multimodality therapy. Multiple imaging and clinical tests are needed to accurately assess patient risk with risk groups based on disease stage, patient age, and biological tumor factors. Approximately 60% of patients with neuroblastoma have metastatic disease, most commonly involving bone marrow or cortical bone. Metaiodobenzylguanidine (mIBG) scintigraphy plays an important role in the assessment of neuroblastoma, allowing whole-body disease assessment. mIBG is used to define extent of disease at diagnosis, assess disease response during therapy, and detect residual and recurrent disease during follow-up. mIBG is highly sensitive and specific for neuroblastoma, concentrating in >90% of tumors. mIBG was initially labeled with (131)I, but (123)I-mIBG yields higher quality images at a lower patient radiation dose. (123)I-mIBG (AdreView; GE Healthcare, Arlington Heights, IL) was approved for clinical use in children by the Food and Drug Administration in 2008 and is now commercially available throughout the United States. The use of single-photon emission computed tomography and single-photon emission computed tomography/computed tomography in (123)I-mIBG imaging has improved certainty of lesion detection and localization. Fluorodeoxyglucose positron-emission tomography has recently been compared with mIBG and found to be most useful in neuroblastomas which fail to or weakly accumulate mIBG.
Valero de Bernabé Martín de Eugenio, Javier
Prenatal diagnosis universalization allows knowing the prognostic possibilities in a situation of limited therapeutical resources. Therefore, besides permitting the peace of a normal fetal development, in other circumstances it can provoke parent's requirement to interrupt pregnancy in cases of malformation or chromosomal alteration, situations that parents may conceive as difficult for child's life and family environment. Diagnostic tests reliability and risks, information given to the parents, conversion in an eugenic practice of prenatal diagnosis and OMS recommendations in relation to the optional and voluntary character that this diagnosis should have are analysed.
Pérez Martín, Álvaro
Family physicians play a key role in the diagnosis and management of patients with osteoarthritis. Diagnosis is mainly clinical and radiological. A complete history should be taken with meticulous physical examination of the joints. The history-taking should aim to detect risk factors and compatible clinical symptoms. Pain characteristics should be identified, distinguishing between mechanical and inflammatory pain, and an exhaustive examination of the joints should be performed, with evaluation of the presence of pain, deformity, mobility restrictions (both active and passive), crepitus, joint effusion, and inflammation. A differential diagnosis should be made with all diseases that affect the joints and/or produce joint stiffness.
The most frequent early symptoms of spondyloarthritides are inflammatory back pain and asymetric peripheral arthritis. Currently the mean delay between the onset of first symptoms and diagnosing ankylosing spondylitis which is the frequent type of spondyloarthritis is over 5 years. The availability of effective therapies makes an early diagnosis mandatory. The clinical symptoms of inflammatory back pain, active inflamation on MR, and positivity for HLA-B27 are the most important parameters for an early diagnosis of spondyloarthritis, especially in combination. Moreover, the combination of clinical and laboratory parameters is necessary for the early diagnosis.
Rasouli, Mohammad R; Mirkoohi, Maryam; Vaccaro, Alexander R; Yarandi, Kourosh Karimi; Rahimi-Movaghar, Vafa
The spinal column is involved in less than 1% of all cases of tuberculosis (TB). Spinal TB is a very dangerous type of skeletal TB as it can be associated with neurologic deficit due to compression of adjacent neural structures and significant spinal deformity. Therefore, early diagnosis and management of spinal TB has special importance in preventing these serious complications. In order to extract current trends in diagnosis and medical or surgical treatment of spinal TB we performed a narrative review with analysis of all the articles available for us which were published between 1990 and 2011. Althoug h the development of more accurate imaging modalities such as magnetic resonance imaging and advanced surgical techniques have made the early diagnosis and management of spinal TB much easier, these are still very challenging topics. In this review we aim to discuss the diagnosis and management of spinal TB based on studies with acceptable design, clearly explained results and justifiable conclusions.
Stanley, Donald E; Campos, Daniel G
Establishing diagnoses is a crucial aspect of medical practice. However, this process has received comparatively little logical and pedagogical attention when compared to statistical methods for evaluating evidence. This article investigates the logic of medical diagnosis in order to fill this void. It is organized in three parts: the first attempts to explain why more attention ought to be paid to diagnosis, at least as much as to evidence; the second calls attention to the method of diagnosis by abductive reasoning developed in the 19th century by Charles Sanders Peirce (1839-1914); and the third demonstrates the use and pervasiveness of abduction by any other name in clinical diagnosis. We examine six diagnostic strategies in common use that contain most, if not all, of Peirce's structure of inquiry in science.
... Category Cancer A-Z Breast Cancer Understanding a Breast Cancer Diagnosis If you’ve been diagnosed with breast ... cancer or how fast it’s growing. Types of Breast Cancer There are several types of breast cancer. The ...
López-Bernaldo de Quirós, Juan Carlos; Delgado, Rafael; García, Federico; Eiros, José M; Ortiz de Lejarazu, Raúl
Currently, there are around 150,000 HIV-infected patients in Spain. This number, together with the fact that this disease is now a chronic condition since the introduction of antiretroviral therapy, has generated an increasing demand on the clinical microbiology laboratories in our hospitals. This increase has occurred not only in the diagnosis and treatment of opportunistic diseases, but also in tests related to the diagnosis and therapeutic management of HIV infection. To meet this demand, the Sociedad de Enfermedades Infecciosas y Microbiología Clinica (Spanish Society of Infectious Diseases and Clinical Microbiology) has updated its standard Procedure for the microbiological diagnosis of HIV infection. The main advances related to serological diagnosis, plasma viral load, and detection of resistance to antiretroviral drugs are reviewed in this version of the Procedure.
... Disease, & Other Dental Problems Diabetes & Sexual & Urologic Problems Diabetes Tests & Diagnosis Your health care professional can diagnose ... cannot diagnose diabetes. Who should be tested for diabetes? Anyone who has symptoms of diabetes should be ...
Harvey, Adrian M
Primary hyperaldosteronism is an important and commonly unrecognized secondary cause of hypertension. This article provides an overview of the current literature with respect to screening, diagnosis, and lateralization. Selection and outcomes of medical and surgical treatment are discussed.
Lalla, E; Rosa, D; Grillo, G; Belfiore, G
The authors call attention to the pathology caused by glenohumeral instability and, in particular, to painful shoulders in athletes which so often cause problems in diagnosis. An instrumental protocol for diagnosis is suggested, based on several specific radiographic views, Ct scan and arthro-Ct scan, with double contrast medium, the latter having the task of determining lesion which would not otherwise be able to be studied.
Grech, P.; Martin, T.J.; Barrington, N.A.; Ell, P.J.
This book presents a reference on the radiologic evaluation, features, and differential diagnosis of metabolic diseases involving the whole skeleton, calcium deficiencies resulting from pharmacologic agents, and bone changes related to endocrine disturbances. It also stresses how radiology, nuclear medicine, and biochemistry - either alone or in concert - contribute to clinical diagnosis. It covers renal bone disease, Paget's disease, hyperphosphatasia, extraskeletal mineralization, metabolic bone disorders related to malnutrition, tumors, plus radionuclide studies including materials and methods.
Mitchell, L A; Simon, E M; Filly, R A; Barkovich, A J
Subependymal heterotopia consist of gray matter nodules along the lateral ventricular walls and are associated with epilepsy and other cerebral malformations. Some cases have an X-linked inheritance, and early antenatal diagnosis of affected fetuses is important for appropriate management. We present a case of heterotopia diagnosed by sonography and MR imaging at 23 weeks' gestation and discuss the differential diagnosis, reviewing the evolution and imaging appearances of the germinal matrix and its implications for detection of heterotopia.
Sekine, Y. ); Akimoto, Y. ); Kunugi, M. )
Fault diagnosis of power systems plays a crucial role in power system monitoring and control that ensures stable supply of electrical power to consumers. In the case of multiple faults or incorrect operation of protective devices, fault diagnosis requires judgment of complex conditions at various levels. For this reason, research into application of knowledge-based systems go an early start and reports of such systems have appeared in may papers. In this paper, these systems are classified by the method of inference utilized in the knowledge-based systems for fault diagnosis of power systems. The characteristics of each class and corresponding issues as well as the state-of-the-art techniques for improving their performance are presented. Additional topics covered are user interfaces, interfaces with energy management systems (EMS's), and expert system development tools for fault diagnosis. Results and evaluation of actual operation in the field are also discussed. Knowledge-based fault diagnosis of power systems will continue to disseminate.
Maitland, Murray E
Diagnosis is a fundamental abstract reasoning concept in healthcare. It forms the foundation for clinical guidelines, evidence-based practice, and healthcare interventions. The definition of diagnosis is evolving in a manner that may change patient care and clinical research. Currently, dictionary definitions of diagnosis fall into two broad categories, those that stress the original etymology and those that are based on classifying the patient problem according to preexisting labels. Many medical diagnoses are not sufficient to justify allied health, profession-specific interventions. Some authors have suggested profession-specific definitions of diagnosis and profession-specific nomenclature. However, a unique set of labels that are insulated from other health professions has been difficult to achieve because of the interdependence of pathology, impairments, and the patient's role in society. Coordinated interdisciplinary or transdisciplinary patient care, including clinical guidelines, and efficient delivery of services necessitate a definition that facilitates communication across health care professions. A solution to this dilemma may be to create a bridge, recognizing the multifactorial etiology of health and professional autonomy while explicitly stating the context of profession-specific interventions as a team approach. I propose that the definition of diagnosis be modified to: "the process of determining mechanisms by which the patient's health condition arises and the conclusions reached by doing so."
The Asperger Syndrome is - in contrast to early childhood autism - a disorder at the lighter end of the autism spectrum. Although first described in 1943, it was included in the ICD-10 not before 1992. The knowledge about this lighter autistic disorder spread only slowly. The increasing prevalence rates can be explained by the increased knowledge about this disorder and the growing clinical experience. In contrast to the public that gives repeated medial attention to it, and to would-be affected who seem to see an attractive excuse for social problems in an Asperger diagnosis, many psychiatrists appear cautious to state a diagnosis with which they are not familiar and which is discredited as a fashionable diagnosis.
Visseaux, Benoit; Masliah-Planchon, Julien; Fischer, Anne-Marie; Darnige, Luc
The antiphospholipid syndrome (APS) is characterized by arterial and/or venous thrombosis and pregnancy morbidity in association with the persistent presence of autoantibodies called antiphospholipid antibodies (APAs). APAs are a heterogeneous group of circulating autoantibodies that can be detected either by phospholipid-dependent coagulation test for lupus anticoagulant (LA) or ELISA test for anticardiolipin and anti-β2GPI antibodies. In 2006, the revised criteria for the diagnosis of APS introduce the anti-β2GPI antibodies as a new biological criterion and highlight the necessity to increase the interval between two positive APA test from 6 to 12 weeks. However, despite these updated criteria, the diagnosis of APS remains challenging and we proposed here to make an overview of the latest evolution in the diagnosis of this syndrome.
Hoffmann, K; Hertl, M; Sitaru, C
Bullous autoimmune diseases are organ-specific disorders characterized by an autoantibody-mediated blistering of skin and mucous membranes. The detection of tissue-bound and serum autoantibodies is prerequisite for the diagnosis of autoimmune blistering diseases. The individual entities of this group may be difficult to differentiate on clinical grounds alone. An accurate diagnosis is however important for prognosis and therapy. A preliminary diagnostic step includes direct and indirect immunofluorescence microscopy, which provide information about the binding pattern and isotype of autoantibodies and allow the diagnosis of the autoimmune blistering disease. Subsequent characterization of the molecular specificity of autoantibodies is necessary for the exact classification of autoimmune bullous dermatoses. The quantitative measurement of autoantibodies against structural proteins of the skin may be often used to assess disease severity at follow-up.
Johnson, Lynda G.
Although attention deficit/hyperactivity disorder (ADHD) is one of the most common cognitive disorders, the usual diagnostic procedures pursued by psychiatrists, neurologists, pediatricians, and family practitioners are based largely, if not exclusively, on subjective assessments of perceived behavior. The recommended approaches to ADHD diagnosis are reviewed, first from the perspective of the various expert panels, and then from the research literature upon which those recommendations are based. The authors agree that ADHD is a clinical diagnosis, and that the assessment of subjective reports can be systematic. But they propose that objective data should also contribute to the clinical diagnosis of ADHD; and that new computerized assessment technology can generate objective cognitive data in an efficient and cost-effective way. Computerized tests can also improve the assessment of treatment response over time. PMID:21120096
Celiac disease is one of the most prevalent autoimmune gastrointestinal disorders but as the case of Ms. J illustrates, diagnosis is often delayed or missed. Based on serology studies, the prevalence of celiac disease in many populations is estimated to be approximately 1% and has been increasing steadily over the last 50 years. Evaluation for celiac disease is generally straightforward, and uses commonly available serologic tests, however the signs and symptoms of celiac disease are nonspecific and highly heterogeneous making diagnosis difficult. While celiac disease is often considered a mild disorder treatable with simple dietary changes, in reality celiac disease imparts considerable risks including reduced bone mineral density, impaired quality of life, and increased overall mortality. In addition, the gluten free diet is highly burdensome and can profoundly affect patients and their families. For these reasons, care of individuals with celiac disease requires prompt diagnosis and ongoing multidisciplinary management. PMID:21990301
Ohno, Hideaki; Miyazaki, Yoshitsugu
Fungal cerebromeningitis is one of deep seated mycoses and also a fatal fungal infectious disease. Regarding to causative pathogen of fungal cerebromeningitis in Japan, Cryptococcus spp., Candida spp., Aspergillus spp., are popular fungi. In general, the diagnosis of deep seated mycosis is sometime difficult. The genetic diagnosis method such as PCR against deep seated mycosis has been developing and it has been also reported as one of useful diagnostic tests. However, PCR for fungal detection is still a research test that has not been cleared or approved officially, therefore it should not be used for diagnosis, or patient management routinely. The PCR which detect broad range of fungi or specific fungus is applied for clinical situation, a careful attention should be paid for avoiding contamination because many fungal species are available in living environment.
Torruellas, Cara; French, Samuel W; Medici, Valentina
Alcohol is a hepatotoxin that is commonly consumed worldwide and is associated with a spectrum of liver injury including simple steatosis or fatty liver, alcoholic hepatitis, fibrosis, and cirrhosis. Alcoholic liver disease (ALD) is a general term used to refer to this spectrum of alcohol-related liver injuries. Excessive or harmful alcohol use is ranked as one of the top five risk factors for death and disability globally and results in 2.5 million deaths and 69.4 million annual disability adjusted life years. All patients who present with clinical features of hepatitis or chronic liver disease or who have elevated serum elevated transaminase levels should be screened for an alcohol use disorder. The diagnosis of ALD can generally be made based on history, clinical and laboratory findings. However, the diagnosis of ALD can be clinically challenging as there is no single diagnostic test that confirms the diagnosis and patients may not be forthcoming about their degree of alcohol consumption. In addition, clinical findings may be absent or minimal in early ALD characterized by hepatic steatosis. Typical laboratory findings in ALD include transaminase levels with aspartate aminotransferase greater than alanine aminotransferase as well as increased mean corpuscular volume, gamma-glutamyltranspeptidase, and IgA to IgG ratio. In unclear cases, the diagnosis can be supported by imaging and liver biopsy. The histological features of ALD can ultimately define the diagnosis according to the typical presence and distribution of hepatic steatosis, inflammation, and Mallory-Denk bodies. Because of the potential reversible nature of ALD with sobriety, regular screening of the general population and early diagnosis are essential. PMID:25206273
HAN, SHUWEN; YANG, XI; QI, QUAN; PAN, YUEFEN; CHEN, YONGCHAO; SHEN, JUNJUN; LIAO, HAIHONG; JI, ZHAONING
Tongue diagnosis, as a unique method of traditional Chinese medicine (TCM), was used to discriminate physiological functions and pathological conditions by observing the changes of the tongue and tongue coating. The aims of the present study were to explore a potential screening and early diagnosis method of cancer through evaluating the differences of the images of tongue and tongue coating and the microbiome on the tongue coating. The DS01-B tongue diagnostic information acquisition system was used to photograph and analyze the tongue and tongue coating. The next-generation sequencing technology was used to determine the V2-V4 hypervariable regions of 16S rDNA to investigate the microbiome on the tongue coating. Bioinformatics and statistical methods were used to analyze the microbial community structure and diversity. Comparing with the healthy people, the number of mirror-like tongue, thick tongue coating and the moisture of tongue were increased in cancers. The dominant color of the tongue in the healthy people was reddish while it was purple in the cancers. The relative abundance of Neisseria, Haemophilus, Fusobacterium and Porphyromonas in the healthy people were higher than that in the cancers. We also found 6 kinds of special microorganisms at species level in cancers. The study suggested that tongue diagnosis may provide potential screening and early diagnosis method for cancer. PMID:27035407
Matson, Johnny L.; Beighley, Jennifer; Turygin, Nicole
There has been an exponential growth in assessment methods to diagnose disorders on the autism spectrum. Many reasons for this trend exist and include advancing knowledge on how to make a diagnosis, the heterogeneity of the spectrum, the realization that different methods may be needed based on age and intellectual disability. Other factors…
Han, Shuwen; Yang, Xi; Qi, Quan; Pan, Yuefen; Chen, Yongchao; Shen, Junjun; Liao, Haihong; Ji, Zhaoning
Tongue diagnosis, as a unique method of traditional Chinese medicine (TCM), was used to discriminate physiological functions and pathological conditions by observing the changes of the tongue and tongue coating. The aims of the present study were to explore a potential screening and early diagnosis method of cancer through evaluating the differences of the images of tongue and tongue coating and the microbiome on the tongue coating. The DS01-B tongue diagnostic information acquisition system was used to photograph and analyze the tongue and tongue coating. The next-generation sequencing technology was used to determine the V2-V4 hypervariable regions of 16S rDNA to investigate the microbiome on the tongue coating. Bioinformatics and statistical methods were used to analyze the microbial community structure and diversity. Comparing with the healthy people, the number of mirror-like tongue, thick tongue coating and the moisture of tongue were increased in cancers. The dominant color of the tongue in the healthy people was reddish while it was purple in the cancers. The relative abundance of Neisseria, Haemophilus, Fusobacterium and Porphyromonas in the healthy people were higher than that in the cancers. We also found 6 kinds of special microorganisms at species level in cancers. The study suggested that tongue diagnosis may provide potential screening and early diagnosis method for cancer.
Foil, C S
Pruritic skin diseases in the cat are best approached in a problem-oriented fashion. The presentations of pruritic skin disease in the cat include miliary dermatitis, pruritus of the head, scaling and crusting dermatoses, alopecia, erythroderma and exfoliation, eosinophilic granuloma complex, macular and pustular eruptions, and pruritic nodular dermatoses. There is a specific differential diagnosis for each presentation. A rational diagnostic plan, based on the likelihood of each disease in the differential diagnosis, may be formulated for each presentation of pruritus in the cat.
Ariel, I.M.; Clearly, J.B.
This is a publication about the diagnosis and treatment of breast cancer with an appeal for unified reporting of end results. Nine chapters cover historical reviews, risk factors, pathology-receptors-immunology, detection and diagnosis, treatment of the potentially curable patient, and treatment of the patient with advanced disease. The three concluding chapters discuss reconstruction, special clinical situations, and support for the patient. The role of radiation therapy is presented well. The current status of chemotherapy, hormonal therapy and combined therapies is also addressed by authoritative authors.
A summary is presented of the contemporary view of the diagnosis and treatment of pituitary prolactinomas. The use of radiotherapy is discussed in detail. Radiation sources include radiocobalt teletherapy and 4-MEV linear accelerators. Complications following radiotherapy include epilation, optic nerve and chiasm injury, brain necrosis, and sarcoma formation. Additionally there is loss of trophic hormone secretion. In addition to conventional radiotherapy techniques, Bragg peak proton hypophysectomy has been used successfully and appears to have the lowest mortality rate. CAT scans are used for diagnosis and follow-up. 93 references, 8 figures.
Rajkumar, S. Vincent; Kumar, Shaji
The diagnosis and treatment of multiple myeloma (MM) has changed dramatically in the last decade. The disease definition has been updated to allow highly specific biomarkers in addition to established markers of end-organ damage. The staging system has been revised to combine both measures of tumor burden and disease biology. Advances in therapy have resulted in a significant improvement of overall survival. New drugs introduced in the last few years include carfilzomib, pomalidomide, and panobinostat. In addition, monoclonal antibodies such as elotuzumab and daratumumab have shown promising clinical activity. In this review, we outline the current approach to diagnosis, prognosis, and management of MM. PMID:26763514
The clinical diagnosis and natural history of optic neuritis was established in the late 1880s by the ophthalmologists von Graefe and Nettleship. The earlier, accurate and insightful description of transient, bilateral visual loss of Esther, the main character in the Charles Dickens novel Bleak House (1852--1853), suggests optic neuritis as a Dickensian diagnosis. Remarkably, Dickens' observations, also preceding the earliest clinical description of multiple sclerosis by Charcot in 1868, described many clinical features such as a prodromal phase; a nadir; gradual recovery over weeks; glare disability; reduced contrast sensitivity; possibly Uhthoff's phenomenon; and visual fading. All this with an accuracy that, to quote Russell Brain, "would credit a trained physician."
Vega Hernández, M E; Hicks, J J; González-Angulo, J
Chorionic villus sampling (CVS) has a promising future about early detection of fetal abnormalities. It has the potential to become a major tool in the prenatal diagnosis and therapy of genetic disorders. Villus samples can be analyzed by means of cytogenetic, biochemical or molecular technics. Information available at present indicates fetal loss rate should be in the same proportion than amniocentesis. CVS appears to be a reasonably safe and reliable method of prenatal diagnosis in the first trimester of pregnancy. This procedure is setting as fast as it is possible like an excellent alternative to amniocentesis.
Torres, Patrick A.; Helmstetter, John A.; Kaye, Adam M.; Kaye, Alan David
Background Rhabdomyolysis is a complex medical condition involving the rapid dissolution of damaged or injured skeletal muscle. Methods This review focuses on the epidemiology, pathophysiology, causes, presentation, diagnosis, complications, management, and anesthetic considerations related to rhabdomyolysis. Results Any form of muscle damage––and by extension any entity that causes muscle damage––can initiate rhabdomyolysis. One of the most important treatment goals when rhabdomyolysis is suspected is avoiding acute kidney injury. Conclusion All clinicians should be aware of common causes, diagnosis, and treatment options. PMID:25829882
Rowland, L P
This review of the differential diagnosis of amyotrophic lateral sclerosis focuses on two themes. The first is practical, how to establish the diagnosis based primarily on clinical findings buttressed by electrodiagnosis. The main considerations are multifocal motor neuropathy and cervical spondylotic myelopathy. The second theme is the relationship of motor neuron disease to other conditions, including benign fasciculation (Denny-Brown, Foley syndrome), paraneoplastic syndromes, lymphoproliferative disease, radiation damage, monomelic amyotrophy (Hirayama syndrome), as well as an association with parkinsonism, dementia and multisystem disorders of the central nervous system.
Schonberg, S A
Chromosome analysis is the single most frequent test used in laboratory prenatal diagnostic studies. I summarize the current status of the field, including diagnostic problems in the laboratory and the clinical problems associated with communicating unexpected laboratory findings. I explore the effect of molecular genetics on these issues and its possible future effects on the entire practice of prenatal diagnosis as it relates to the risk for chromosome nondisjunction (trisomy). I also discuss the use of cytogenetic analysis in the prenatal diagnosis of certain inherited genetic diseases. Images PMID:8236978
Wohltmann, Wendi E; Sperling, Leonard
Establishing a definitive diagnosis for any form of alopecia can be challenging. Adding to the diagnostic complexity is the fact that many patients have more than one form of alopecia contributing to their hair loss. We conducted a review of 1360 consecutive scalp biopsy specimens submitted for the evaluation of scalp hair loss over a 16-month period, demonstrating that 12.5% of cases had a combination of diagnoses (multifactorial alopecia) accounting for their hair loss. An approach to the histopathologic diagnosis of multifactorial alopecia, particularly multiple forms of alopecia found in a single biopsy, is here presented.
Kress, Victoria E. White; Kelly, Brandy L.; McCormick, Laura J.
This article examines the assessment, diagnosis, and treatment of trichotillomania (the recurrent desire to pull out one's hair). The authors provide a brief review both of proposed etiologies of trichotillomania and of the diagnostic and assessment issues related to this disorder, and they discuss interventions and treatments that have been shown…
Casser, H R
As a supplement to clinical findings, sonographic examination of the meniscus is an easily available, noninvasive imaging technique that can be used to optimize preoperative diagnosis and check the indication for arthroscopy. Careful consideration of the technical requirements and systematic performance of the dynamic examination should lead to further improvement of the examination results and to growing clinical significance in the future.
VanRavenstein, Kathy; Durham, Catherine OʼConnor; Williams, Tiffany H; Smith, Whitney
Impetigo, a bacterial skin infection that involves the superficial layers of the skin, is one of the most common skin infections in children ages 2 to 5 but can occur in individuals across the lifespan. This article discusses the diagnosis and management of impetigo in primary care.
... This biomarker could take the guesswork out of concussion diagnosis and management," said the study's lead author, Nina Kraus. "Our hope is this discovery will enable clinicians, parents and coaches to better manage athlete health, because playing sports is one of the best things you can ...
Rhodes, Julia; Caccetta, Tony Philip; Tait, Clare
Lupus vulgaris is one of the most common forms of cutaneous tuberculosis. It presents a diagnostic challenge due to its paucibacillary nature. This is a report of a case of a delayed diagnosis of lupus vulgaris, presenting as perianal and peristomal plaques, followed by a review of the diagnostic tools for lupus vulgaris and their limitations.
Kenyon, Elinor; Beail, Nigel; Jackson, Tom
Studies have focused on the experience of diagnosis from the perspectives of parents of children with learning disabilities, but there has been limited methodologically rigorous investigation into the experience for the person themselves. Eight participants were recruited from a range of different backgrounds. Interviews were analysed using…
Smith, Robert M., Ed.
Seven contributors treat teacher diagnosis of educational difficulties. Robert Smith and John Neisworth review the fundamentals of informal educational assessment; Neisworth describes the educational irrelevance of intelligence; and Smith discusses perceptual motor skills. Also included are James Lister on personal-social-emotional skills, G.…
Belosi, C; Giuliani, M; Suriano, R; Sagnella, F; Lanzone, A
Polycystic ovary syndrome (PCOS) is the most common endocrine disorders among women in reproductive age, but diagnostic criteria used in clinical practice are still controversial. In 1990 the National Institute of HEALTH (NIH) conference on PCOS recommended that diagnostic criteria should include biochemical evidence of hyperandrogenism and ovarian dysfunction (in the absence of non-classical adrenal hyperplasia) without considering the morphological diagnosis of polycystic ovary by ultrasound as an essential part of the diagnosis. In the Rotterdam PCOS workshop of May 2003, however, PCOS is diagnosed when 2 of the following criteria are recognized: oligomenorrhea and/or anovulation, clinical or biochemical signs of hyperandrogenism, ultrasound findings of polycystic ovary. Further-more, it is underlined that the metabolic study is not necessary for PCOS diagnosis, while it is suggested for "at risk patients" (obesity, diabetes, familiar and obstetrical history) with an oral glucose tolerance test (OGTT). A recent study carried out by our group underlined the role of ultrasound parameter, in particular suggesting a ratio between ovarian stroma area and total area of the ovarian section (S/A), with a cut-off of 0.34, as "gold parameter" for PCOS diagnosis, because it shows high sensitivity and specificity (96.3%, 97.0% for the S/A).
Poser, Charles M., Ed.
A collection of writings by 17 authors, the text includes the following discussions: general principles of diagnosis and management of mental retardation, neurologic evaluation of the infant and child, psychological evaluation, educational information, and treatment of pseudoretardation, communicative disorders, and metabolic and endocrine causes.…
Torrús, Diego; Carranza, Cristina; Manuel Ramos, José; Carlos Rodríguez, Juan; Rubio, José Miguel; Subirats, Mercedes; Ta-Tang, Thuy-Huong
Current diagnosis of malaria is based on the combined and sequential use of rapid antigen detection tests (RDT) of Plasmodium and subsequent visualization of the parasite stained with Giemsa solution in a thin and thick blood smears. If an expert microscopist is not available, should always be a sensitive RDT to rule out infection by Plasmodium falciparum, output the result immediately and prepare thick smears (air dried) and thin extensions (fixed with methanol) for subsequent staining and review by an expert microscopist. The RDT should be used as an initial screening test, but should not replace microscopy techniques, which should be done in parallel. The diagnosis of malaria should be performed immediately after clinical suspicion. The delay in laboratory diagnosis (greater than 3 hours) should not prevent the initiation of empirical antimalarial treatment if the probability of malaria is high. If the first microscopic examination and RDT are negative, they must be repeated daily in patients with high suspicion. If suspicion remains after three negative results must be sought the opinion of an tropical diseases expert. Genomic amplification methods (PCR) are useful as confirmation of microscopic diagnosis, to characterize mixed infections undetectable by other methods, and to diagnose asymptomatic infections with submicroscopic parasitaemia.
Xavier, Marcus H.S.B.; Drummond-Lage, Ana P.; Baeta, Cyntia; Rocha, Lorena; Almeida, Alessandra M.; Wainstein, Alberto J.A.
Abstract Advanced melanoma is an incurable disease with complex and expensive treatments. The best approach to prevent melanoma at advanced stages is an early diagnosis. A knowledge of factors associated with the process of detecting cutaneous melanomas and the reasons for delays in diagnosis is essential for the improvement of the secondary prevention of the disease. Identify sociodemographic, individual, and medical aspects related to cutaneous melanoma diagnosis delay. Interviews evaluated the knowledge of melanoma, signals, symptoms, persons who were suspected, delays in seeking medical attention, physician's deferrals, and related factors of 211 patients. Melanomas were self-discovered in 41.7% of the patients; healthcare providers detected 29.9% of patients and others detected 27%. The main component in delay was patient-related. Only 31.3% of the patients knew that melanoma was a serious skin cancer, and most thought that the pigmented lesion was not important, causing a delay in seeking medical assistance. Patients (36.4%) reported a wait interval of more than 6 months from the onset of an observed change in a pigmented lesion to the first visit to a physician. The delay interval from the first physician visit to a histopathological diagnosis was shorter (<1 month) in 55.5% of patients. Improper treatments without a histopathological confirmation occurred in 14.7% of patients. A professional delay was related to both inappropriate treatments performed without histopathological confirmation (P = 0.003) and long requirements for medical referrals (P < 0.001). A deficient knowledge in the population regarding melanoma and physicians’ misdiagnoses regarding suspicious lesions contributed to delays in diagnosis. PMID:27495055
Heinonen, Tomi; Kuismin, Raimo; Jormalainen, Raimo; Dastidar, Prasun; Frey, Harry; Eskola, Hannu
The popularity of digital imaging devices and PACS installations has increased during the last years. Still, images are analyzed and diagnosed using conventional techniques. Our research group begun to study the requirements for digital image diagnostic methods to be applied together with PACS systems. The research was focused on various image analysis procedures (e.g., segmentation, volumetry, 3D visualization, image fusion, anatomic atlas, etc.) that could be useful in medical diagnosis. We have developed Image Analysis software (www.medimag.net) to enable several image-processing applications in medical diagnosis, such as volumetry, multimodal visualization, and 3D visualizations. We have also developed a commercial scalable image archive system (ActaServer, supports DICOM) based on component technology (www.acta.fi), and several telemedicine applications. All the software and systems operate in NT environment and are in clinical use in several hospitals. The analysis software have been applied in clinical work and utilized in numerous patient cases (500 patients). This method has been used in the diagnosis, therapy and follow-up in various diseases of the central nervous system (CNS), respiratory system (RS) and human reproductive system (HRS). In many of these diseases e.g. Systemic Lupus Erythematosus (CNS), nasal airways diseases (RS) and ovarian tumors (HRS), these methods have been used for the first time in clinical work. According to our results, digital diagnosis improves diagnostic capabilities, and together with PACS installations it will become standard tool during the next decade by enabling more accurate diagnosis and patient follow-up.
Kim, Han-Joon; Jeon, Beom S; Jellinger, Kurt A
Because the progression of multiple system atrophy (MSA) is usually rapid and there still is no effective cause-related therapy, early and accurate diagnosis is important for the proper management of patients as well as the development of neuroprotective agents. However, despite the progression in the field of MSA research in the past few years, the diagnosis of MSA in clinical practice still relies largely on clinical features and there are limitations in terms of sensitivity and specificity, especially in the early course of the disease. Furthermore, recent pathological, clinical, and neuroimaging studies have shown that (1) MSA can present with a wider range of clinical and pathological features than previously thought, including features considered atypical for MSA; thus, MSA can be misdiagnosed as other diseases, and conversely, disorders with other etiologies and pathologies can be clinically misdiagnosed as MSA; and (2) several investigations may help to improve the diagnosis of MSA in clinical practice. These aspects should be taken into consideration when revising the current diagnostic criteria. This is especially true given that disease-modifying treatments for MSA are under investigation.
Acha, Begoña; Serrano, Carmen; Acha, José I; Roa, Laura M
In this paper a new system for burn diagnosis is proposed. The aim of the system is to separate burn wounds from healthy skin, and the different types of burns (burn depths) from each other, identifying each one. The system is based on the colour and texture information, as these are the characteristics observed by physicians in order to give a diagnosis. We use a perceptually uniform colour space (L*u*v*), since Euclidean distances calculated in this space correspond to perceptually colour differences. After the burn is segmented, some colour and texture descriptors are calculated and they are the inputs to a Fuzzy-ARTMAP neural network. The neural network classifies them into three types of bums: superficial dermal, deep dermal and full thickness. Clinical effectiveness of the method was demonstrated on 62 clinical burn wound images obtained from digital colour photographs, yielding an average classification success rate of 82% compared to expert classified images.
Four cases of hypovitaminosis D were seen in a general practitioner's population in the Netherlands: a Somalian veiled woman aged 53 and her 11-year-old daughter, a dark-skinned Surinam woman aged 31, and a veiled Moroccan woman aged 56 years. This cause of myopathy has only been recently recognised and is more prevalent than often thought, especially in high-risk groups such as veiled and dark-skinned immigrants who lack sunlight in the Netherlands. Symptoms are muscle pain and mainly proximal muscle weakness resulting in difficulties in ascending a staircase or getting up out of a chair. The diagnosis is made on the basis of a detailed history and measurement of serum 25-hydroxyvitamin D. Calcium and serum alkaline phosphatase activity may be normal. Treatment with ergocalciferol is effective and cheap. As diagnosis and treatment are relatively simple, finding and treating hypovitaminosis D is a rewarding challenge to primary health care practitioners in the Netherlands.
Karasek, Michał; Pawlikowski, Marek; Lewiński, Andrzej
The basic data on hyperprolactinemia (i.e. an excess of PRL above a reference laboratory's upper limits), the most common endocrine disorder of the hypothalamic-pituitary axis are given in this review. The following issues are discussed: regulation of prolactin (Prl) secretion, definition of hyperprolactinemia, its etiology and pathogenesis as well as its symptoms, diagnosis, and treatment (including medical and surgical therapy). It should be stressed that finding of elevated PRL serum concentrations constitute the beginning of diagnostic procedure and, after exclusion of physiologic, pharmacologic, and other organic causes of increased PRL levels, should be followed by detailed diagnosis including MRI. In patients in whom hyperprolactinemia has been confirmed the treatment with dopamine agonists (with prevalence of cabergoline, followed by quinagoline) is currently considered first-choice therapy. Surgery should be performed only in the patients resistant or intolerant to these agents, or in patients who refuse long-term therapy.
Abstract The clinical diagnosis and natural history of optic neuritis was established in the late 1880s by the ophthalmologists von Graefe and Nettleship. The earlier, accurate and insightful description of transient, bilateral visual loss of Esther, the main character in the Charles Dickens novel Bleak House (1852--1853), suggests optic neuritis as a Dickensian diagnosis. Remarkably, Dickens’ observations, also preceding the earliest clinical description of multiple sclerosis by Charcot in 1868, described many clinical features such as a prodromal phase; a nadir; gradual recovery over weeks; glare disability; reduced contrast sensitivity; possibly Uhthoff’s phenomenon; and visual fading. All this with an accuracy that, to quote Russell Brain, “would credit a trained physician.” PMID:28167994
GÖZÜBATIK-ÇELİK, Gökçen; UYGUNOĞLU, Uğur; ULUDÜZ, Derya; ATAHAN, Ersan; MÜSELLİM, Benan; SAİP, Sabahattin; SİVA, Aksel
Sarcoidosis is an inflammatory multisystem disorder, affecting many systems such as lung, lymph nodes, skin and eye involvement. Nervous system involvement is often seen in 5–15% of patients with systemic sarcoidosis in the first two years. Preceding to systemic involvement the initial symptom as neurological complaints has been rarely reported. Lacking of any specific, clinical and / or radiological findings for neurosarcoidosis in these cases, it could be difficult to make an accurate diagnosis and histopathological evaluation may be required. Due to rarity and complexity diagnosis of the neurosarcoidosis, in this study, clinical, radiological and / or histopathological features, treatment modalities of the 7 neurosarcoidosis patients to be presented with detailed investigations of different neurological symptoms were evaluated. PMID:28360686
Kansal, P.; Sakati, N.; Rifai, A.; Woodhouse, N.
We describe four patients who presented with a lingual thyroid condition (three females and one male, aged between 7 and 22 years). Only the male patient was symptomatic with mild dysphagia and hemoptysis. The diagnosis was suspected in three patients, and was confirmed by iodine 123 or 131 scanning in all patients and by a computed tomographic scan in the one patient studied. The patient with dysphagia received a 10-mCl therapeutic dose of iodine 131 before thyroxine replacement was started. The diagnosis and management of lingual thyroid is discussed. All patients need lifelong thyroxine suppression. Unenhanced computed tomographic scans have a diagnostic appearance due to the iodine content of the ectopic thyroid tissue.
Hopwood, John J
The focus of this communication is to comment on the relative importance of enzymatic and molecular genetics, potential false results and future options for prenatal diagnosis of Sanfilippo syndrome (mucopolysaccharidosis (MPS) types IIIA, IIIB, IIIC and IIID). During the provision of an international service over the past 25 years, our department has identified 7 affected out of 49 MPS III prenatal assessments. During this period, the technology used by us and others (Thompson et al., 1993; Kleijer et al., 1996) in these diagnoses has undergone considerable development in evolution. Our policy to maintain a close relationship between the provision of a diagnostic service and research to achieve an overall goal of early diagnosis and effective therapy have progressed both activities.
Krysiak, Robert; Okopień, Bogusław
Apart from being a source of great distress and social embarrassment, hirsutism may be also a sign of an underlying endocrine or malignant disease. The diagnosis should be always methodical and adjusted to the nature of the clinical presentation. The clinical evaluation of the potentially hirsute patient first involves confirming the presence of hirsutism by hormonal assessment and then excluding underlying disorders or associated abnormalities. There is no uniform treatment approach for the management of hirsutism and the therapy is directed at suppressing ovarian or adrenal androgen production, inhibiting the conversion of testosterone to dihydrotestosterone, or antagonizing the effects of androgens at the receptor level. All these tratment options are reviewed. In this paper, we provide the recommended approach to the diagnosis and treatment of hirsute patient.
Bandler, J. W.; Salama, A. E.
Theory and algorithms associated with four main categories of modern techniques used to locate faults in analog circuits are presented. These four general approaches are: the fault dictionary (FDA), the parameter identification (PIA), the fault verification (FVA), and the approximation (AA) approaches. The preliminaries and problems associated with the FDA, such as fault dictionary construction, the methods of optimum measurement selection, fault isolation criteria, and efficient methods of fault simulation, are discussed. The PIA techniques that utilize either linear or nonlinear systems of equations for identification of network elements are examined. Description of the FVA includes node-fault diagnosis, branch-fault diagnosis, subnetwork testability conditions, as well as combinatorial techniques, the failure-bound technique, and the network decomposition technique. In the AA, probabilistic methods and optimization-based methods are considered. In addition, the artificial intelligence technique and the different measures of testability are presented. A series of block diagrams is included.
Webster, H L
The demonstration of abnormally high concentrations of electrolytes in eccrine sweat is still the only practical laboratory procedure available for diagnosis of cystic fibrosis. Properly performed, the sweat test is very reliable, but there are many published reports that all of the methods in current use frequently generate incorrect diagnoses. Analysis of potential for error in sweat test methods shows that of the three essential phases involved, stimulation, collection, and analysis, the major cause of intrinsic inaccuracy occurs in the collection process. In this case the problem is due to condensate formation, which leads to the subsequent analysis of nonrepresentative sweat. Human error is also an important cause of false results and is a direct function of the number of critical manual operations involved in the technic. This review provides a critical examination of sweat test methods, identifying problem areas and suggesting ways to improve procedures in the interests of clinically reliable laboratory data in support of diagnosis.
Moul, Judd W
Early detection of testicular tumors has been touted as beneficial for more than 100 years. In earlier eras, early detection was virtually the only way to improve outcomes. According to statistics that have been tracked in the literature, however, the delay from initial symptoms to definitive diagnosis by radical orchiectomy has averaged 4 to 5 months. In the modern era of effective chemotherapy, the effects of a delayed diagnosis on survival can be overcome but at the cost of a more morbid treatment regimen. Although screening on a population basis is not currently recommended by the National Cancer Institute, teaching testicular self examination to young men, particularly those who have risk factors, is reasonable.
Smith, Charles E.
A wide variety of pulmonary lesions may be caused by coccidioidomycosis. Suspicion of coccidioidomycosis may be substantiated by careful clinical-epidemiological histories. The first laboratory procedure should be a coccidioidin skin test. If the reaction to the test is positive, serological tests are next. Also, if there is no reaction to coccidioidin, serological tests are still indicated if dissemination is suspected. The more severe the infection, the greater the probability of establishing a diagnosis serologically. In only three-fifths of patients with coccidioidal cavities can the diagnosis be fixed serologically. In such patients if differential skin tests are not conclusive, attempt should be made to recover the fungus. However, this is accompanied by great risk of laboratory infection. Eosinophilia and accelerated erythrocyte sedimentation are only circumstantial items of evidence, as is the appearance of the pulmonary roentgenogram. ImagesFigure 1. PMID:14886741
Schulman, A; Loxton, A J; Heydenrych, J J; Abdurahman, K E
In a prospective 6 month study, sonographic diagnosis of biliary ascariasis was made in 12 patients: In five, the diagnosis was confirmed by other means, mainly intravenous cholangiography. In three, such confirmation was not sought, but all had proven intestinal infestation. One possible and three definite false-positive diagnoses were made. There were no established false-negative diagnoses. The echogenic, nonshadowing images of the worms were seen in the main bile duct and/or gallbladder as single strips (on one occasion with its digestive tract seen as an anechoic "inner tube"), as multiple strips giving a spaghettilike appearance, as coils, or as more amorphous fragments. Follow-up sonograms were obtained in six patients and showed expulsion of the worms by medical treatment.
Baird, J. Kevin; Valecha, Neena; Duparc, Stephan; White, Nicholas J.; Price, Ric N.
The diagnosis and treatment of Plasmodium vivax malaria differs from that of Plasmodium falciparum malaria in fundamentally important ways. This article reviews the guiding principles, practices, and evidence underpinning the diagnosis and treatment of P. vivax malaria. PMID:27708191
In this article, the application of electronic computers for diagnosis of ten common gynaecologic diseases is discussed. Verification by 1038 cases shows that the discussed method of diagnosis has an accuracy of 95.57%.
... When Your Child Has Cancer Children Diagnosed With Cancer: Dealing With Diagnosis When a child or teen is diagnosed with ... How do parents usually react to a child’s cancer diagnosis? Ways to improve coping How can parents be ...
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Baky, A. A.; Winkler, D. G.
Five new algorithms are a complete statistical procedure for quantifying cell abnormalities from digitized images. Procedure could be basis for automated detection and diagnosis of cancer. Objective of procedure is to assign each cell an atypia status index (ASI), which quantifies level of abnormality. It is possible that ASI values will be accurate and economical enough to allow diagnoses to be made quickly and accurately by computer processing of laboratory specimens extracted from patients.
Kim, Hyun Jeong; Roh, Hong Gee
The purpose of this article is to review imaging findings and to discuss the optimal imaging methods for craniosynostosis. The discussion of imaging findings are focused on ultrasonography, plain radiography, magnetic resonance imaging and computed tomography with 3-dimensional reconstruction. We suggest a strategy for imaging work-up for the diagnosis, treatment planning and follow-up to minimize or avoid ionized radiation exposure to children by reviewing the current literature. PMID:27226852
Mazumder, Ramendra N; Pietroni, Mark A C; Mosabbir, Nadira; Salam, M A
A case of typhus fever is presented. On admission, the clinical diagnosis was typhoid fever. Forty-eight hours after admission, the presence of subconjunctival haemorrhage, malena, and jaundice raised the possibility of a different aetiology, the two most likely differentials being dengue and typhus. Finally, a co-infection of typhoid and typhus was discovered. This uncommon clinical scenario should be taken into account in the management of patients with high fever on admission being treated as a case of typhoid fever.
inflammatory loss of attachment and bone in adolescents ; lesions are often associated with incisors and first molars; no evidence of systemic disease . RISK...FACTORS: When determining susceptibility to periodontal disease , patients in the previous classifications should be considered high risk patients if...AD-A247 28411i 11111l l l1113111! Eilli UNIVERSITY OF NORTH CAROLINA AT CHAPEL HILL PERIODONTAL STAIN TEST DIAGNOSIS PROGRAM D T IC Prof. E.J. Burkes
Gasson, Tracy; Klein, Kathleen
Porphyrias are inherited metabolic disorders that involve alterations in enzymes utilized in the heme biosynthetic pathway. Most of these conditions are inherited; however, some are believed to be acquired through environmental exposures. Patients with porhyrias often present with a wide range of clinical symptoms, making it difficult to diagnose. Treatments vary depending on clinical presentation. A thorough and detailed history is essential and key to discovering a porphyria diagnosis.
Rosenbaum, James T; Sibley, Cailin H; Choi, Dongseok; Harrington, Christina A; Planck, Stephen R
The effort to subdivide diseases and to individualize therapies based on characteristics of the patient has been labeled precision medicine. Jameson and Longo define precision medicine as "treatments targeted to the needs of individual patients on the basis of genetic, biomarker, phenotypic or psychosocial characteristics that distinguish a given patient from other patients with similar clinical presentations" (Jameson and Longo, 2015). We illustrate how molecular diagnosis can be applied to orbital inflammatory disease to achieve the goals of precision medicine.
Lüdemann, C M; Schütze, N; Rudert, M
The diagnosis of periprosthetic infection requires a clear definition itself and structured procedure concerning anamnesis, clinical examination, laboratory findings, puncture and imaging diagnostics. The clinical presentation may vary considerable due to the time of their occurrence as early, delayed, or late infection. Recognition of risk factors and knowledge of differential diagnoses facilitate and confirm the diagnosis. The synovial fluid is assessed with regard to leukocyte count, protein content, and glucose. Intraoperative tissue specimen sampling has to be performed correctly; the histopathological and microbiological studies must be assessed using specific criteria. The examination and classification of periprosthetic membranes make discrimination of the causal pathological mechanism possible, especially distinction between septic and aseptic loosening. In this manner statements with regard to etiology and prosthesis durability are possible. Different causative microorganisms appear postoperatively at specific times. Pathogens that grow as biofilms are of great significance, as they may compound diagnosis and therapy. Early infections are often caused by virulent microorganisms (S. aureus) with acute onset. Delayed (low grade) infections are usually caused by less virulent microorganisms, such as S. epidermidis or coagulase-negative staphylococci. Many diagnostic imaging methods have been used in the assessment of periprosthetic infection: plain radiographs, arthrography, ultrasonography, computed tomography, and magnetic resonance imaging. Nuclear medicine with bone scintigraphy or positron-emission tomography enhance diagnostic capabilities. Cultures of samples obtained by sonication of prostheses are more sensitive than conventional periprosthetic tissue culture. Multiplex PCR of sonication fluid is a promising test for diagnosis of periprosthetic joint infection. The promising diagnostic accuracy for interleukin-6 and procalcitonin has yet not been
During the last decades the description of autoinflammatory syndromes induced great interest among the scientific community. Mainly rheumatologists, immunologists and pediatricians are involved in the discovery of etiopathogenesis of these syndromes and in the recognition of affected patients. In this paper we will discuss the most important clues of monogenic and non-genetic inflammatory syndromes to help pediatricians in the diagnosis and treatment of these diseases. PMID:20813071
Since after the first streptomycin 1944 trials, anti-tuberculous chemotherapy research has been focused upon establishing drug combination regimens capable of overcoming drug resistance and amenable to ambulatory treatment in resource strapped countries. The first milestone being the 1959 Madras trial comparing home and sanatorium treatment in South India. Subsequently, the MRC trials led Fox and Mitchison to indicate rifampicin, isoniazid and pyrazinamide as the first line drugs for short course, 6 month, regimens and the 1982 Hong Kong Chest Service trials established intermittent therapy as the ambulatory treatment standard for directly observed therapy (DOT). The rising of the HIV epidemic at the beginning of the 1980s has refuelled tuberculosis spread in Africa and Asia and contributed to the expansion of drug-resistant tuberculosis worldwide making the development of new drugs and drug regimens for ambulatory treatment a top priority. Led by biotechnological advances, molecular biology has been brought into TB laboratory diagnosis for the highly sensitive and specific rapid identification of Mycobacterium tuberculosis in biological samples. The field of immunological diagnosis of TB infection, dominated since the early 1900s by the intradermal tuberculin reaction has been put back in motion by the discovery of M. tuberculosis-specific proteins and peptides, now employed in blood tests of high sensitivity and specificity for the diagnosis of latent TB which may help with the identification of contacts at higher risk of active disease and the eradication of epidemic cases.
Belics, Zoran; Gérecz, Balázs; Csákány, M György
Ectopic pregnancy is a high-risk condition that occurs in 2% of reported pregnancies. This percentage is fivefold higher than that registered in the 1970s. Since 1970 there has been a two-fold increase in the ratio of ectopic pregnancies to all reported pregnancies in Hungary and in 2012 7.4 ectopic pregnancies per thousand registered pregnancies were reported. Recently, the majority (80%) of cases can be diagnosed in early stage, and the related mortality objectively decreased in the past few decades to 3.8/10,000 ectopic pregnancies. If a woman with positive pregnancy test has abdominal pain and/or vaginal bleeding the physician should perform a work-up to safely exclude the possibility of ectopic pregnancy. The basis of diagnosis is ultrasonography, especially vaginal ultrasound examination and measurement of the β-subunit of human chorionic gonadotropin. The ultrasound diagnosis is based on the visualization of an ectopic mass rather than the inability to visualize an intrauterine pregnancy. In some questionable cases the diagnostic uterine curettage or laparoscopy may be useful. The actuality of this topic is justified by practical difficulties in obtaining correct diagnosis, especially in the early gestational time.
Wolf, C; Quinn, P J
A review is presented of the major clinical features of a number of glycolipidoses including Fabry, Gaucher, Tay-Sachs, metachromatic leukodystrophy as well as CeroidLipofucinosis and Sjogren-Larsson syndrome. The possibilities offered by lipidomics for diagnosis and follow-up after enzyme replacement therapy are presented from a practical perspective. The contribution of HPLC coupled with tandem mass spectrometry has considerably simplified the detection and assay of abnormal metabolites. Corresponding internal standards consisting of weighed mixtures of the stable-isotope labeled metabolites required to calibrate and quantitate lipid components of these orphan diseases standards have yet to become commercially available. A lipidomics approach has been found to compare favorably with DNA-sequence analysis for the rapid diagnosis of pre-birth syndromes resulting from these multiple gene defects. The method also seems to be suitable for screening applications in terms of a high throughput combined with a low rate of false diagnoses based on the wide differences in metabolite concentrations found in affected patients as compared with normal subjects. The practical advantages of handling samples for lipidomic diagnoses as compared to enzyme assay are presented for application to diagnosis during pregnancy.
Elewski, Boni E.
Although not life-threatening, onychomycosis (a fungal infection of the nail, usually caused by a dermatophyte) constitutes an important public health problem because of its high prevalence (about 10% of the U.S. population) and associated morbidity. The disease can have certain negative consequences for patients, such as pain, and can potentially undermine work and social lives. This review discusses the etiology, classification, diagnosis, and treatment of onychomycosis. Four types of onychomycosis are recognized based on the site and pattern of fungal invasion. Dermatophyte fungi are the predominant pathogens, but yeasts (especially Candida albicans) and nondermatophyte molds may also be implicated. Accurate diagnosis requires direct microscopy and fungal culture. The differential diagnosis includes psoriasis, lichen planus, onychogryphosis, and nail trauma. Onychomycosis is more difficult to treat than most dermatophytoses because of the inherent slow growth of the nail. Older antifungal agents (ketoconazole and griseofulvin) are unsuitable for onychomycosis because of their relatively poor efficacy and potential adverse effects. Three recently developed antimycotic agents (fluconazole, itraconazole, and terbinafine) offer high cure rates and good safety profiles. In addition, the short treatment times (<3 months) and intermittent dosing schedules are likely to enhance compliance and reduce the costs of therapy. PMID:9665975
Koyama, Sekiya; Sakaguchi, Nobuki; Hotta, Jyunnichi
Mycobacterium tuberculosis (M. tuberculosis) infects all organs in the body; however, lung infection is the primary lesion. The total number of infections is decreasing, but the percentage of infections in older people is rising. Because this disease is due to infection with M. tuberculosis, the diagnosis requires the presence of M. tuberculosis. Chest X-ray and CT are very powerful tools to suggest the presence of M. tuberculosis infection. Pathological examination of the tissues also shows the typical findings of M. tuberculosis infection; however, the presence of the bacterium was not proven in certain cases of M. tuberculosis infection, and especially in cases of latent infection. Recently, the whole-blood interferon--gamma test (QuantiFERON-TB, QFT) became more popular than the tuberculin skin test. It is reported that the specificity and sensitivity of QFT are similar to or better than the tuberculin skin test. However, it should be noted that QFT positive does not automatically lead to a diagnosis of active M. tuberculosis infection and that QFT is one of the supplementary tests in the diagnosis of M. tuberculosis infection. Currently, massive infection with M. tuberculosis is increasing. The precise responsible linkage in massive infection with M. tuberculosis needs DNA polymorphism analysis using variable numbers of tandem repeats (VNTR) or restricted fragment length polymorphism (RFLP).
"Language Assessment Quarterly," Volume 6, Issue 3, 2009, is a special issue titled "Cognitive Diagnosis and Q-Matrices in Language Assessment." This special issue is a textbook for cognitive diagnosis, one that language testers can study for many years to come. This article presents the author's reaction on why cognitive diagnosis is necessary.…
Tatarinova, E V; Pogodina, A N; Abakumov, M M
It analyzed the diagnosis and treatment results of 123 patients with cervicothoracic injuries for 21 years. The frequency of cervicothoracic injuries among all patients with cervical injuries was 5.7%. Preoperative and postoperative diagnosis included radial and endoscopic methods. The complications rate was 43.6%. The most severe complications were observed in patients with delayed diagnosis of trachea and esophagus injuries.
This book contains 22 papers under the headings of Diagnosis and Pathology of endocrine diseases. Topics covered include: Laboratory tests in the diagnosis and management of thyroid disorders, Pathology of thyroid diseases, Diagnosis of adrenourtical disease, Radiologic techniques in evaluating endocrine disorders; and the Pituitary and adrenal glands.
Trapp Petty, Melissa A.
For hearing parents, receiving a hearing loss diagnosis for their child can be a shocking event. For some parents, the diagnosis is the fulfillment of a hunch; confirmation of the suspected, but still scary verdict. Recent research finds that the period directly after hearing loss diagnosis is the most stressful and burdensome for parents,…
Wu, Ling-Qian; Pan, Qian; Long, Zhi-Gao; Zhu, Jun-Zhen; Dai, He-Ping; Zheng, Duo; Xia, Kun; Huang, Xing-Qing; Xia, Jia-Hui
In order to obtain a simple,fast,accurate and low-cost diagnosis method of fragile X syndrome, cytogenetic tests and molecular genetic tests were carried out with direct amplification of (CGG)(n) repeat sequence in 5' terminal of FMR1 gene by PCR and the cDNA sequence of FMR1 by RT-PCR from six mental retardation pedigrees. The proband of pedigree A with high expression of fragile X chromosome(35/273) was detected to be a full mutation patient of fragile X syndrome by the molecular genetic test. There is no expression of fragile X chromosome in the proband and his mother of pedigree B, which was further confirmed as a non-fragile X pedigree by the molecular genetic test. A male foetus of the pedigree C has fragile X chromosome(5/93), but the proband and his mother has no fragile X chromosome. By further detection using molecular genetic test, the male foetus is a full mutation patient of fragile X syndrome, his mother is a permutated carrier, and his brother is a mosaic patient. The proband of pedigree D has high expression of fragile X chromosome (17%), his sister also has expression of fragile X chromosome (5%). By further detection with molecular genetic test, the proband is a full mutation patient of fragile X syndrome,and his sister is a mosaic patient. The probands of pedigrees E and F of the mother were found with suspicions fragile X chromosome, being confirmed as the non-fragile X pedigrees by the molecular genetic test. The conclusion is that the analysis test with direct amplification of 5'j(CGG)n repeat sequence and cDNA sequence in FMR1 gene is simple,fast,low-cost and can be applied in screening, diagnosis and prenatal diagnosis of fragile X syndrome.
The term "cervicogenic headache" (CH) implies a chronic hemicranial pain syndrome caused by upper cervical spine disorders. According to the clinical researches, in 15-20% of the patients with chronic unilateral headache, it is the case of the headache of cervical origin. The sources of the referred pain manifested as CH are the disorders of anatomical structures innervated by the first three cervical spinal nerves and/or direct irritation/lesion of these nerves (spinal nerves C1-C3, intervertebral/i.v. joints C0-C3, i.v. disc C2-C3 muscles, ligaments, bony structures, dura mater, vertebral arteries). Neuroanatomical and neurophysiological researches have proven the convergence of nociceptive afferents from the receptive field of the spinal nerves C1-C3, and nociceptive afferents from the receptive field of the trigeminal nerve which occurs in the trigeminocervical nucleus located in the upper segments of the cervical part of the spinal cord. Because of the convergence of the nociceptive afferents in the trigeminocervical nucleus, the pain from the receptive field of the spinal nerves C1-C3 is referred into the receptive field of the trigeminal nerve (head, face), and the pain from the receptive field of the trigeminal nerve is referred into the receptive field of the spinal nerves C1-C3 (cervico-occipital area). Diagnosis of CH can be made on the basis of history, clinical picture, clinical examination and radiological examinations, and confirmed by anesthetic blockade of the affected structure. It is necessary to rule out the other forms of headache in differential diagnosis, first of all migraine and tension headache because of their great similarity with CH. The following is used in the treatment of the CH: medical therapy, acupuncture, neural therapy, local botulinum toxin injection, cervical epidural corticosteroid injection, physical therapy, massage, kinezitherapy, traction and surgical treatment. It seems that the best results are achieved by a combination
Tzeng, Ya-Ling; Chiu, Tsan-Hung
Prenatal genetic diagnosis plays an important role in eugenics. Early detection of embryo and fetus abnormalities allows preventive precautions to be taken and treatment to begin early in order to reduce the severity and extent of congenital deformities. Advancements in genetic diagnostic techniques infer that nurses are increasingly likely to deal with prenatal genetic diagnosis cases. This essay introduces a few prevalent prenatal genetic diagnosis methods used at different stages of pregnancy; describes in a comprehensive manner the potential physical and psychological responses of the client; and introduces principles of administering prenatal genetic diagnosis to healthcare clients. Ethical issues related to prenatal genetic diagnosis are also discussed.
Miller, P L; Shaw, C; Rose, J R; Swett, H A
ICON is a developmental expert system designed to critique the process of radiologic differential diagnosis. To use ICON, a physician outlines (1) findings observed in a chest radiograph, (2) a small amount of clinical information describing the patient, and (3) a proposed diagnosis. ICON critiques the appropriateness of that diagnosis in detail, analyzing why and how well the findings serve to confirm it, or to rule it out. ICON may also suggest further information to look for. ICON explores the design issues involved in critiquing the process of differential diagnosis, and is currently implemented in a limited domain: the radiographic diagnosis of a lung mass in a patient with Hodgkin's disease.
The author analyses how debate over the fifth edition of the Diagnostic and Statistical Manual of Mental Disorders has tended to privilege certain conceptions of psychiatric diagnosis over others, as well as to polarise positions regarding psychiatric diagnosis. The article aims to muddy the black and white tenor of many discussions regarding psychiatric diagnosis by moving away from the preoccupation with diagnosis as classification and refocusing attention on diagnosis as a temporally and spatially complex, as well as highly mediated process. The article draws on historical, sociological and first-person perspectives regarding psychiatric diagnosis in order to emphasise the conceptual—and potentially ethical—benefits of ambivalence vis-à-vis the achievements and problems of psychiatric diagnosis. PMID:24515564
Huang, Y.C.; Huang, C.L.; Yang, H.T.
As a part of a substation-level decision support system, a new intelligent Hierarchical Fault Diagnosis System for on-line fault diagnosis is presented in this paper. The proposed diagnosis system divides the fault diagnosis process into two phases. Using time-stamped information of relays and breakers, phase 1 identifies the possible fault sections through the Group Method of Data Handling (GMDH) networks, and phase 2 recognizes the types and detailed situations of the faults identified in phase 1 by using a fast bit-operation logical inference mechanism. The diagnosis system has been practically verified by testing on a typical Taiwan power secondary transmission system. Test results show that rapid and accurate diagnosis can be obtained with flexibility and portability for fault diagnosis purpose of diverse substations.
The author analyses how debate over the fifth edition of the Diagnostic and Statistical Manual of Mental Disorders has tended to privilege certain conceptions of psychiatric diagnosis over others, as well as to polarise positions regarding psychiatric diagnosis. The article aims to muddy the black and white tenor of many discussions regarding psychiatric diagnosis by moving away from the preoccupation with diagnosis as classification and refocusing attention on diagnosis as a temporally and spatially complex, as well as highly mediated process. The article draws on historical, sociological and first-person perspectives regarding psychiatric diagnosis in order to emphasise the conceptual-and potentially ethical-benefits of ambivalence vis-à-vis the achievements and problems of psychiatric diagnosis.
Duerr, B.; Sprenger, M.; Fuhrer, O.; Burri, K.; Gutermann, T.; Hächler, P.; Neururer, A.; Richner, H.; Werner, R.
The «Alpine Research Group Foehn Rhine Valley - Lake Constance (AGF)» (Arbeitsgemeinschaft Föhnforschung Rheintal-Bodensee) is analysing meteorological parameters and investigating foehn phenomena in the Rhine valley since 1971. Their main goal is to find plausible criteria for reliable foehn forecasts and to deepen our understanding of foehn in the target area. The presentation will focus on two main topics: (a) application of a fully automated foehn diagnosis tool; and (b) comparison of model data (COSMO-2, COSMO-7, VERA, INCA) with measurements in our target area. With respect to (a), the foehn diagnosis tool is applied for different meteorological stations of the Swiss meteorological network (SMN). Although it always uses the same six criteria (relative humidity, wind sector, wind force, gale maximum, difference of potential temperature to SMN site Gütsch and wind sector Gütsch), empirical thresholds have to be determined for each site individually. In doing so, foehn can be objectively detected and automatically identified as such in the most cases. In the second part, referring to (b), the foehn case of the 8th December 2006 is considered. It brought high wind velocities as well as a unusually far-reaching foehn, which was observed even north of Lake Constance. The synoptic- to local-scale dynamics of this foehn case is presented in detail, and the further developments within the framework of COSMO-2 to a high spatial resolution of 2.2 km facilitates the comparison of model forecasts with surface measurements. This comparison will be carried out with several parameters such as wind force, potential temperature and air pressure. Furthermore, the forecasted temporal evolution of foehn will be compared to the foehn's beginning and end detected by the foehn diagnosis tool.
Kaushik, Rajni; Gulati, Anchana; Vedant, Deepak; Kaushal, Vijay
Xanthogranulomatous reaction can occur in any organ but the most common sites are kidney and gallbladder. Xanthogranulomatous appendicitis (XA) is a rare clinical entity. There are a few case reports of XA diagnosed on histopathology but none on cytology. Here we report a case of a 47-year-old lady who presented with acute abdomen and was found to have a mass lesion in the right iliac fossa. She was diagnosed with XA intraoperatively on imprint cytology that was subsequently confirmed on histopathological examination. Due to the rarity of XA itself and the use of imprint cytology for intraoperative diagnosis the case is being presented. PMID:28182060
Functional overlay is not a recognized psychiatric diagnosis. Evaluating functional overlay and differentiating between this concept and organic conditions is important in medicolegal areas in which financial values are placed on pain and disability. Functional overlay is not malingering: the former is based on preconscious or unconscious mechanisms, the latter is consciously induced. In considering psychologic reactions to pain and disability, a gradient of simulation, malingering, symptom exaggeration, overvaluation, functional overlay and hysteria is useful. The dynamics of overlay are a combination of anxiety from body-image distortion and depression from decreased efficiency of the body, as well as the resulting psychosocial disruption in a patient's life. PMID:516698
Silva Moreno, Alejandra A.; Chávez Gutiérrez, Francisco
Nowadays the measurement of the contact area of the foot has become an objective way of classifying feet and to describe the form of the longitudinal arch of the foot. In this work, the implementation of a digital podoscope that enables remote sensing for evaluation of the foot is described. The podogram includes an outline of the plantar pressure, and the contour of the arch. This method of evaluation is relatively simple and inexpensive while maintaining precision. The recognition system compares the image of the actual foot with that of a reference image. Information from the comparison can be sent by internet to obtain a remote diagnosis from an expert.
Buntzen, Steen; Christensen, Peter; Khalid, Ali; Ljungmann, Ken; Lindholt, Jan; Lundby, Lilli; Walker, Line Rossell; Raahave, Dennis; Qvist, Niels
These guidelines provide a review of diagnosis, conservative and surgical treatment of haemorrhoids with primary focus on the surgical treatment. In symptomatic hemorrhoids it is recommended, that conservative treatment is used as basic treatment regardless of grading. The vast majority of grade II haemorrhoids are treated conservatively, but surgery may be considered in a few cases with pronounced symptoms. In these cases chirurgia minor, Doppler guided dearterilization procedures or stapled haemorrhoidopexy are recommended. In grade III and IV Doppler guided dearterilization procedures, stapled haemorrhoidopexy (Grade III) or conventional Milligan Morgan haemorrhoidectomy are recommended.
Deignan, Joshua L; Grody, Wayne W
This unit describes a recommended approach to identifying causal genetic variants in an individual suspected of having cystic fibrosis. An introduction to the genetics and clinical presentation of cystic fibrosis is initially presented, followed by a description of the two main strategies used in the molecular diagnosis of cystic fibrosis: (1) an initial targeted variant panel used to detect only the most common cystic fibrosis-causing variants in the CFTR gene, and (2) sequencing of the entire coding region of the CFTR gene to detect additional rare causal CFTR variants. Finally, the unit concludes with a discussion regarding the analytic and clinical validity of these approaches.
Uribe, A; Bravo, G; Uribe, A; Viada, R; Capetillo, M; Villarroel, T
We reviewed 1.178 benign tumors treated between 1981/93 among which 39 appeared with a Phylodes Tumors diagnosis, disregarding 5 of them because they did not have a precise description and histologic classification, studying 34 proved cases which represented 2.89% of all benign tumors; if we add 89% cancers in these years, we have 2.074 and the relation becomes 1.64% of the total. We found 22 benign phylodes (64.7%) 7 border line (20.5%) and 5 malignant (14.8%) whose clinic, histologic and evolutive characteristics are presented in this paper.
Rebellato, Priscila Regina Orso; Carbonar, Mauren Beatriz Frazon; Tabuti, Nicole Iasmin Magario; Rastelli, Graziela Junges Crescente
Scleromyxedema or lichen myxedematosus is a rare papular mucinosis of chronic and progressive course and unknown etiology. It is commonly associated with monoclonal gammopathy and may show extracutaneous manifestations, affecting the heart, lung, kidney, and nerves. The diagnosis is based on four criteria: generalized papular and sclerodermoid lesions; mucin deposition, fibroblast proliferation, and fibrosis in the histopathology; monoclonal gammopathy; and no thyroid disorders. This article reports the case of a scleromyxedema patient with a recent history of acute myocardial infarction and monoclonal gammopathy. PMID:28099617
Gadient, Paul M; Smith, Jonathan H
The neuralgias are characterized by pain in the distribution of a cranial or cervical nerve. While most often brief, severe, and paroxysmal, continuous neuropathic pain may occur. The most commonly encountered entities include trigeminal, postherpetic, glossopharyngeal, and occipital neuralgia. More unusual cranial neuralgias may occur in periorbital (eg, supraorbital neuralgia) and auricular (eg, nervus intermedius neuralgia) distributions. These disorders may be mimicked by structural and inflammatory/infectious neurologic disease, along with other primary headache disorders (eg, primary stabbing headache). The approach to diagnosis and treatment of this group of headache disorders is reviewed.
Moreno-Pérez, D; Andrés Martín, A; Altet Gómez, N; Baquero-Artigao, F; Escribano Montaner, A; Gómez-Pastrana Durán, D; González Montero, R; Mellado Peña, M J; Rodrigo-Gonzalo-de-Liria, C; Ruiz Serrano, M J
Tuberculosis is one of the most important health problems worldwide. There are an increasing number of cases, including children, due to different reasons in developed countries. The most likely determining cause is immigration from highly endemic areas. Measures to optimise early and appropriate diagnosis of the different forms of tuberculosis in children are a real priority. Two Societies of the Spanish Paediatric Association (Spanish Society of Paediatric Infectology and Spanish Society of Paediatric Pneumology) have agreed this Consensus Document in order to homogenise diagnostic criteria in paediatric patients.
O'Shaughnessy, Elizabeth M; Shea, Yvonne M; Witebsky, Frank G
Rising numbers of immunocompromised patients have led to an ever-increasing population at risk of invasive fungal disease. Much has been achieved in the laboratory diagnosis of these infections, such as advances in blood culture systems, and the development of new biochemical, antigen detection assays, and molecular methodologies. More standardized susceptibility testing guidelines provide for better therapeutic interventions. In an era of economic cutbacks in health care, future challenges include the development of cost-effective and technically simplified systems, which provide early detection and identification of common and emerging fungal pathogens. It will, however, take some time to establish the clinical relevance of these new methodologies in different patient populations.
Recent studies have demonstrated that screening and treatment for toxoplasmosis during gestation result in a decrease of vertical transmission and clinical sequelae. Early treatment was associated with improved outcomes. Thus, laboratory methods should aim for early identification of infants with congenital toxoplasmosis (CT). Diagnostic approaches should include, at least, detection of Toxoplasma IgG, IgM, and IgA and a comprehensive review of maternal history, including the gestational age at which the mother was infected and treatment. Here, we review laboratory methods for the diagnosis of CT, with emphasis on serological tools. A diagnostic algorithm that takes into account maternal history is presented. PMID:27147724
Sibley, Cailin H.; Choi, Dongseok; Harrington, Christina A.; Planck, Stephen R.
The effort to subdivide diseases and to individualize therapies based on characteristics of the patient has been labelled precision medicine. Jameson and Longo define precision medicine as “treatments targeted to the needs of individual patients on the basis of genetic, biomarker, phenotypic or psychosocial characteristics that distinguish a given patient from other patients with similar clinical presentations” (Jameson and Longo, 2015). We illustrate how molecular diagnosis can be applied to orbital inflammatory disease to achieve the goals of precision medicine. PMID:26608807
Roy, Claudette; Hay, D. Robert
Nursing diagnosis is an integral part of the nursing process and determines the interventions leading to outcomes for which the nurse is accountable. Diagnoses under the time constraints of modern nursing can benefit from a computer assist. A knowledge-based engineering approach was developed to address these problems. A number of problems were addressed during system design to make the system practical extended beyond capture of knowledge. The issues involved in implementing a professional knowledge base in a clinical setting are discussed. System functions, structure, interfaces, health care environment, and terminology and taxonomy are discussed. An integrated system concept from assessment through intervention and evaluation is outlined.
Michel, O; Doyen, V
The prevalence of food allergies is more than 5 %, rising currently. The clinical presentations are polymorphic and involve the skin, respiratory, vascular and gut systems. The diagnosis is based on the consistancy between the allergic history and the results of the specific IgE investigations. When the relationship between the history and the IgE sensitization is not significant, an oral challenge test with food is indicated under supervision of a reference center. New approach, based on dosage of specific IgE to different constituent (recombinant protein) of each allergen, can predict the severity of the reaction and the cross reactivity between allergens, in some patients.
Toussaint, Arnaud; Simonson, Colin; Valla, Christian
Herpetic lesions most frequently occur on oral and genital areas. However, herpes simplex virus (HSV) can be a rare cause of breast infection. In few published articles, the route of transmission is predominantly from infant to mother. We report two cases about simultaneous mammary and extramammary (oral and genital) herpetic infection in nonlactating women. In both cases, HSV breast lesions were acquired by sexual contacts with partners who were asymptomatic HSV carriers. Through a review of literature, we highlight clinical signs for an early diagnosis. We also emphasize the advantage of the valacyclovir for treating this uncommon pathology.
Ingimarsson, Johann P; Krambeck, Amy E; Pais, Vernon M
Nephrolithiasis is a common affliction, affecting approximately 10% of adults. Potentially presenting with acute abdominal or flank pain, nausea, or emesis, it may pose as a general surgical condition. Therefore, recognition, diagnosis, and management concerns are pertinent to the general surgeon. Furthermore, the risk of nephrolithiasis is increased in common general surgical conditions, including inflammatory bowel disease, hyperparathyroidism, and short gut. Nephrolithiasis may be induced as a result of general surgical interventions, including gastric bypass and bowel resection with ileostomy. An understanding of this common disease will improve coordination of patient care between urologists and general surgeons.
Mirkes, E. M.; Alexandrakis, I.; Slater, K.; Tuli, R.; Gorban, A. N.
One out of four dogs will develop cancer in their lifetime and 20% of those will be lymphoma cases. PetScreen developed a lymphoma blood test using serum samples collected from several veterinary practices. The samples were fractionated and analysed by mass spectrometry. Two protein peaks, with the highest diagnostic power, were selected and further identified as acute phase proteins, C-Reactive Protein and Haptoglobin. Data mining methods were then applied to the collected data for the development of an online computer-assisted veterinary diagnostic tool. The generated software can be used as a diagnostic, monitoring and screening tool. Initially, the diagnosis of lymphoma was formulated as a classification problem and then later refined as a lymphoma risk estimation. Three methods, decision trees, kNN and probability density evaluation, were used for classification and risk estimation and several preprocessing approaches were implemented to create the diagnostic system. For the differential diagnosis the best solution gave a sensitivity and specificity of 83.5% and 77%, respectively (using three input features, CRP, Haptoglobin and standard clinical symptom). For the screening task, the decision tree method provided the best result, with sensitivity and specificity of 81.4% and >99%, respectively (using the same input features). Furthermore, the development and application of new techniques for the generation of risk maps allowed their user-friendly visualization.
Shprintzen, Robert J.; Marrinan, Eileen
Purpose of Review Journal articles relevant to the diagnosis and treatment of velopharyngeal insufficiency (VPI) were reviewed. All articles ascertained by PubMed search were included. Recent Findings Articles reported on the application of magnetic resonance scanning, reliability tests of the International Working Group diagnostic protocol, the use of nasometry, and techniques designed to assess the function of the velopharyngeal mechanism. Treatment papers focused on outcomes in small samples of cases and complication rates from pharyngeal flap. One paper discussed ineffective speech therapy procedures. Summary There were relatively few papers this past year. Those that were published were hindered by small and heterogeneous sample sizes, and occasionally by inappropriate methods for assessing outcomes. None of the findings will have a major impact on the current state-of-the-art for diagnosis of VPI. The speech therapy paper has a very important message that should be taken to heart by all clinicians involved in the management of children with clefts and craniofacial disorders. PMID:19448542
Zanin, Fatima A. A.; Pinheiro, Antonio L. B.; Souza-Campos, Dilma H.; Brugnera, Aldo, Jr.; Pecora, Jesus D.
Caries prevention is a goal to be achieved by dentist in order to promote health. There are several methods used to detect dental caries each one presenting advantages and disadvantages, especially regarding hidden occlusal caries. The improvement of laser technology has permitted the use of laser fluorescence for early diagnosis of hidden occlusal caries. The aim of this study was to assess the efficacy of the use of 655 nm laser light on the detection of hidden occlusal caries. Forty molar teeth from patients of both sexes which ages ranging from 10 - 18 years old were used on this study. Following manufacture's instructions regarding the use of the equipment, the teeth had their occlusal surface examined with the DIAGNOdent. Twenty six of 40 teeth had hidden occlusal caries detected by the DIAGNOdent. However only 17 of these 26 teeth showed radiographic signs of caries the other 9 teeth showed no radiological signs of the lesion. Radiographic examination was able to identify 34,61% of false negative cases. This means that many caries would be left untreated due to the lack of diagnosis using both visual and radiographic examination. The use of the DIAGNOdent was effective in successfully detecting hidden occlusal caries.
Kul'chavenia, E V; Kholtobin, D P
A comparative analysis of cystoscopic and pathologic patterns in 190 patients hospitalized for differential diagnosis or treatment of genitourinary tuberculosis in 2008-2011 was performed. All patients underwent polyfocal biopsy followed by pathologic examination of biopsy specimens. Furthermore, a comparison of results ofpathomorphological studies of tissue obtained by biopsy and after cystectomy was conducted. Cystoscopy in all patients with tuberculosis of the bladder (TB) revealed the reduced bladder capacity in contrast to patients with other urological diseases. Deformation of orifices, trabecularity and contact bleeding were observed in 66.7 to 94.4% of cases in patients with TB, which were significantly more common than in other diseases. Polymorphism of pathological pattern and the lack of specific changes in the majority of patients with TB were noted; multinucleated Pirogov-Langhans cells were found only in 11.8% of cases, and only in biopsies, whereas in the tissues obtained after cystectomy in same patients, lymphocytic infiltration and fibrosis were observed. The algorithm of diagnosis of tuberculosis of the bladder is suggested.
Taylor, M J; Fisk, N M
Fetal abnormality is more common in multiple than in singleton pregnancies. This, together with the requirement to consider the risks with at least two babies to sample correctly each fetus and to undertake accurately-targeted selective termination, amounts to a major challenge for obstetricians involved in prenatal diagnosis. Early determination of chorionicity should be routine, since this influences not only the genetic risks but also the invasive procedure chosen for karyotyping or genotyping. Assessment of nuchal translucency identifies individual fetuses at risk of trisomy. Contrary to expectation, invasive procedures in twins appear to have procedure-related miscarriage rates that are similar to those in singletons. Instead, contamination remains a concern at chorionic villus sampling. Elective late karyotyping of fetuses may have a role in some countries. Whereas management options for discordant fetal abnormality are relatively straightforward in dichorionic pregnancies, monochorionic pregnancies are at risk of co-twin sequelae after any single intrauterine death. Techniques have now been developed to occlude completely the cord vasculature by laser and/or ultrasound guided bipolar diathermy. Given the complexities associated with prenatal diagnosis, all invasive procedures in multiple pregnancies should be performed in tertiary referral centres.
Lacarrubba, Francesco; Verzì, Anna Elisa; Chosidow, Olivier; Schwartz, Robert A.
Scabies is a common, highly contagious skin parasitosis caused by Sarcoptes scabiei var. hominis. Early identification and prompt treatment of infested subjects is essential, as missed diagnosis may result in outbreaks, considerable morbidity, and significantly increased economic burden. The standard diagnostic technique consists of mites’ identification by microscopic examination of scales obtained by skin scraping. This is a time-consuming and risk-associated procedure that is also not suitable to a busy practice. In recent years, some advanced and noninvasive techniques such as videodermatoscopy, dermatoscopy, reflectance confocal microscopy, and optical coherence tomography have demonstrated improved efficacy in the diagnosis of scabies. Their advantages include rapid, noninvasive mass screening and post-therapeutic follow-up, with no physical risk. A greater knowledge of these techniques among general practitioners and other specialists involved in the intake care of overcrowded populations vulnerable to scabies infestations is now viewed as urgent and important in the management of outbreaks, as well as in consideration of the recent growing inflow of migrants in Europe from North Africa. PMID:27311065
Keith, Michael Warren; Masear, Victoria; Chung, Kevin; Maupin, Kent; Andary, Michael; Amadio, Peter C.; Barth, Richard W.; Watters, William C.; Goldberg, Michael J.; Haralson, Robert H.; Turkelson, Charles M.; Wies, Janet L.
This clinical practice guideline was created to improve patient care by outlining the appropriate information-gathering and decision-making processes involved in managing the diagnosis of carpal tunnel syndrome. The methods used to develop this clinical practice guideline were designed to combat bias, enhance transparency, and promote reproducibility. The guideline’s recommendations are as follows: The physician should obtain an accurate patient history. The physician should perform a physical examination of the patient that may include personal characteristics as well as performing a sensory examination, manual muscle testing of the upper extremity, and provocative and/or discriminatory tests for alternative diagnoses. The physician may obtain electrodiagnostic tests to differentiate among diagnoses. This may be done in the presence of thenar atrophy and/or persistent numbness. The physician should obtain electrodiagnostic tests when clinical and/or provocative tests are positive and surgical management is being considered. If the physician orders electrodiagnostic tests, the testing protocol should follow the American Academy of Neurology/American Association of Neuromuscular and Electrodiagnostic Medicine/American Academy of Physical Medicine and Rehabilitation guidelines for diagnosis of carpal tunnel syndrome. In addition, the physician should not routinely evaluate patients suspected of having carpal tunnel syndrome with new technology, such as magnetic resonance imaging, computed tomography, and pressure-specified sensorimotor devices in the wrist and hand. This decision was based on an additional nonsystematic literature review following the face-to-face meeting of the work group. PMID:19474448
Beach, David A
Endodontic diagnosis and treatment planning has taken a giant leap forward due to introduction of CBCT in dentistry. While conventional 2-D radiographs remain the most cost-effective and routine method to evaluate a patient’s dentition, their diagnostic potential is limited. The 3-D manipulation of images that CBCT offers provides better insight into diagnostic dilemmas and complicate treatment decisions. Despite the advantages of CBCT imaging, it should be used complimentary to 2-D radiography, not as a replacement. The principle of ALARA (in which patients should be exposed to radiation “as low as reasonably achievable”), still applies to this technology. CBCT should not be used routinely in the absence of clinical signs or symptoms that necessitate a more in-depth view of a tooth and surrounding structures. In other words, if a conventional 2-D radiograph will suffice, then a CBCT pretreatment scan is not necessary. However, if more information is needed to make an accurate diagnosis, a 3-D CBCT image is justified and highly beneficial as shown through several case examples share in this article.
Lebreton, Aurélien; Casini, Alessandro
Congenital fibrinogen disorders comprise quantitative disorders defined by a complete absence (afibrinogenemia) or by a decreased level (hypofibrinogenemia) of circulating fibrinogen and qualitative disorders characterized by a discrepancy between the activity and the antigenic levels of fibrinogen (dysfibrinogenemia and hypodysfibrinogenemia). The biological diagnosis is based on a standard haemostasis assessment. All the coagulation tests that depend on the formation of fibrin as the end point are affected; although in dysfibrinogenemia the specificity and sensitivity of routine test depend on reagent and techniques. A genetic exploration permits to confirm the diagnosis and may enhance the prediction of the patient's phenotype. Homozygous or composite heterozygous null mutations are most often responsible for afibrinogenemia while hypofibrinogenemic patients are mainly heterozygous carrier of an afibrinogenemic allele. Heterozygous missense mutations are prevalent in dysfibrinogenemia, with two hot spot localized in exon 2 of the FGA and in the exon 8 of the FGG. The correlation between phenotype and genotype has been identified in some fibrinogen variants, including six mutations clustered in exons 8 and 9 of the FGG leading to hypofibrinogenemia with hepatic inclusions of abnormal fibrinogen aggregates as well as a few mutations associated with an increase risk of thrombotic events. A familial screening and additional functional assays should be carried out when possible.
Dubrey, S W; Sharma, R; Underwood, R; Mittal, T
Cardiac sarcoidosis is one of the most serious and unpredictable aspects of this disease state. Heart involvement frequently presents with arrhythmias or conduction disease, although myocardial infiltration resulting in congestive heart failure may also occur. The prognosis in cardiac sarcoidosis is highly variable, which relates to the heterogeneous nature of heart involvement and marked differences between racial groups. Electrocardiography and echocardiography often provide the first clue to the diagnosis, but advanced imaging studies using positron emission tomography and MRI, in combination with nuclear isotope perfusion scanning are now essential to the diagnosis and management of this condition. The identification of clinically occult cardiac sarcoidosis and the management of isolated and/or asymptomatic heart involvement remain both challenging and contentious. Corticosteroids remain the first treatment choice with the later substitution of immunosuppressive and steroid-sparing therapies. Heart transplantation is an unusual outcome, but when performed, the results are comparable or better than heart transplantation for other disease states. We review the epidemiology, developments in diagnostic techniques and the management of cardiac sarcoidosis.
Pelkowski, Timothy D; Viera, Anthony J
Celiac disease is an autoimmune disorder of the gastrointestinal tract. It is triggered by exposure to dietary gluten in genetically susceptible individuals. Gluten is a storage protein in wheat, rye, and barley, which are staples in many American diets. Celiac disease is characterized by chronic inflammation of the small intestinal mucosa, which leads to atrophy of the small intestinal villi and subsequent malabsorption. The condition may develop at any age. Intestinal manifestations include diarrhea and weight loss. Common extraintestinal manifestations include iron deficiency anemia, decreased bone mineral density, and neuropathy. Most cases of celiac disease are diagnosed in persons with extraintestinal manifestations. The presence of dermatitis herpetiformis is pathognomonic for celiac disease. Diagnosis is supported by a positive tissue transglutaminase serologic test but, in general, should be confirmed by a small bowel biopsy showing the characteristic histology associated with celiac disease. The presence of human leukocyte antigen alleles DQ2, DQ8, or both is essential for the development of celiac disease, and can be a useful genetic test in select instances. Treatment of celiac disease is a gluten-free diet. Dietary education should focus on identifying hidden sources of gluten, planning balanced meals, reading labels, food shopping, dining out, and dining during travel. About 5% of patients with celiac disease are refractory to a gluten-free diet. These patients should be referred to a gastroenterologist for reconsideration of the diagnosis or for aggressive treatment of refractory celiac disease, which may involve corticosteroids and immunomodulators.
Saccomanno, Geno; Bechtel, Joel J.
Lung cancer remains the leading cause of death in the United States. Although the incidence of cigarette smoking is decreasing in the United States it appears to be increasing worldwide. The five-year survival rate has not improved in cases with advanced disease, but several articles have indicated that survival can be improved in cases diagnosed early by sputum cytology and chest x-ray. In cases diagnosed while the lesion is in the in-situ stage or measures less than 1 cm in diameter, surgical excision and/or radiation therapy improves survival; therefore, the early diagnosis of high-risk patients should be vigorously pursued. A recent study at a community hospital in Grand Junction, Colorado, presented 45 lung cancer cases diagnosed with positive sputum cytology and negative chest x-ray, and indicates that early diagnosis does improve survival. This study has been conducted during the past six years; 16 cases have survived three years and six cases show five-year survival.
Marco Martínez, Javier
Hyponatremia is the most common electrolyte disturbance. This disorder is usually produced by water retention due to the patient's inability to balance water excretion with ingestion of liquids. The present article provides basic information on the physiopathology and epidemiology of hyponatremia in certain contexts such as the ambulatory and hospitalized settings, the geriatric population, exercise-induced hyponatremia, drug-induced hyponatremia and finally hyponatremia observed in some common diseases such as heart failure, liver cirrhosis, pneumonia and HIV infection. The differential diagnosis of hyponatremia should include plasma osmolality, which can be increased, normal or decreased. Most true hyponatremias are grouped in the latter category. If the extracellular volume is decreased, urinary sodium concentrations can be either low or normal with dehydration in the former and water retention in the latter. In hyponatremia with normal extracellular volume, there is free water retention due to a series of stimuli. This entity is seen mainly in hospitalized patients with hypothyroidism or syndrome of inappropriate secretion of antidiuretic hormone. Hyponatremia is underdiagnosed and, more seriously, undertreated, despite numerous studies demonstrating its devastating effects on hospital admissions. The most useful laboratory tests for its diagnosis are urinary sodium concentration, plasma osmolality and urinary osmolality.
The current American Association for the Study of Liver Diseases (AASLD) guideline provides strategies for achieving the diagnosis of hepatocellular carcinoma (HCC) based on the size of liver nodules seen on surveillance imaging. For lesions less than 1 cm in size, follow-up surveillance imaging is recommended. Lesions larger than 2 cm require typical radiological hallmark on dynamic imaging. Lesions of 1–2 cm in size require typical imaging features including intense uptake of contrast during arterial phases followed by decreased enhancement during portal venous phases on at least 2 imaging modalities. In cases of atypical radiological features of the suspected lesion, tissue diagnosis either by fine needle aspiration or biopsy should be obtained. Although fine needle aspiration could give a smaller risk of seeding than biopsy, biopsy has been preferred over cytology. Percutaneous biopsy of HCC carries a potential risk of tumor seeding along the needle tract. However the risk is low and there is no clear evidence of post transplant recurrence due to needle tract seeding. Histopathologic assessment can differentiate between premalignant lesions such as dysplastic nodules and early HCC. Atypical variants of HCC can be recognized morphologically which may have associated prognostic value. PMID:25755614
Sandrasegaran, Kumaresan; Maglinte, Dean D; Rajesh, Arumugam; Akisik, Fatih M
The purpose of this study was to analyze the CT signs of primary epiploic appendagitis. A retrospective search of the CT database over 12 months for this diagnosis revealed 11 cases. The clinical findings were recorded. Softcopy CT images were reviewed by two experienced abdominal radiologists (KS, DM) for location of lesion, size, shape, presence of central hyperdense focus, degree of bowel wall thickening, mass effect, and ancillary signs. Abdominal pain was the primary symptom in all patients. Preliminary diagnoses were appendicitis (n=2), diverticulitis (n=5), pancreatitis (n=1), ovarian lesion (n=1), or unknown (n=2). Abdominal examination and white blood cell count were uninformative. CT examination revealed a solitary (n=11), ovoid (n=9) fatty lesion with some soft tissue stranding adjacent to the left colon (n=6), transverse colon (n=3), or right colon (n=2). Central hyperdensity (n=5), mild bowel wall thickening (n=2), and parietal peritoneal thickening (n=4) were also seen. In 4 patients the lesions were not visible on follow-up CT examination performed 23-184 days later. Primary epiploic appendagitis can clinically mimic other, more serious inflammatory conditions. Knowledge of its findings on CT would help the radiologist make the diagnosis and allow a more conservative approach to patient care.
Gray, L D; Fedorko, D P
Bacterial meningitis is relatively common, can progress rapidly, and can result in death or permanent debilitation. This infection justifiably elicits strong emotional reactions and, hopefully, immediate medical intervention. This review is a brief presentation of the pathogenesis of bacterial meningitis and a review of current knowledge, literature, and recommendations on the subject of laboratory diagnosis of bacterial meningitis. Those who work in clinical microbiology laboratories should be familiar with the tests used in detecting bacteria and bacterial antigens in cerebrospinal fluid (CSF) and should always have the utmost appreciation for the fact that results of such tests must always be reported immediately. Academic and practical aspects of the laboratory diagnosis of bacterial meningitis presented in this review include the following: anatomy of the meninges; pathogenesis; changes in the composition of CSF; etiological agents; processing CSF; microscopic examination of CSF; culturing CSF; methods of detecting bacterial antigens and bacterial components in CSF (counter-immunoelectrophoresis, coagglutination, latex agglutination, enzyme-linked immunosorbent assay, Limulus amebocyte lysate assay, and gas-liquid chromatography); use of the polymerase chain reaction; and practical considerations for testing CSF for bacterial antigens. PMID:1576585
Becker, Jonathan A; Daily, Jennifer P; Pohlgeers, Katherine M
Acute monoarthritis can be the initial manifestation of many joint disorders. The most common diagnoses in the primary care setting are osteoarthritis, gout, and trauma. It is important to understand the prevalence of specific etiologies and to use the appropriate diagnostic modalities. A delay in diagnosis and treatment, particularly in septic arthritis, can have catastrophic results including sepsis, bacteremia, joint destruction, or death. The history and physical examination can help guide the use of laboratory and imaging studies. The presence of focal bone pain or recent trauma requires radiography of the affected joint to rule out metabolic bone disease, tumor, or fracture. If there is a joint effusion in the absence of trauma or recent surgery, and signs of infection (e.g., fever, erythema, warmth) are present, subsequent arthrocentesis should be performed. Inflammatory synovial fluid containing monosodium urate crystals indicates a high probability of gout. Noninflammatory synovial fluid suggests osteoarthritis or internal derangement. Pitfalls in the diagnosis and early treatment of acute monoarthritis include failure to perform arthrocentesis, administering antibiotics before aspirating the joint when septic arthritis is suspected (or failing to start antibiotics after aspiration), and starting treatment based solely on laboratory data, such as an elevated uric acid level.
Escobar-Morreale, Héctor F
Hirsutism is a frequent medical complaint that usually results from relatively benign functional disorders including the polycystic ovary syndrome, which is the most frequent etiology. The essential tool for the diagnosis of hirsutism is a complete clinical history and physical examination, because functional causes begin peripubertally and progress slowly, whereas the very rare androgen-secreting neoplasms have a sudden onset and a rapid progression of hirsutism, and usually associate clinical signs of virilization and defeminization. In all cases, diagnosis requires quantification of hirsutism using the modified Ferriman-Gallwey score, measurement of circulating androgen concentrations, a detailed study of ovulatory function, and possibly an ovarian ultrasound. Treatment must consider not only amelioration of hirsutism but also treatment of the underlying etiology and of any metabolic associations. When caused by a functional disorder, treatment of hirsutism should be chronic and should include cosmetic as well as pharmacological interventions such as oral contraceptives and antiandrogens. For nonfunctional disorders, treatment should focus on solving the underlying etiology as hirsutism is usually responsive to the elimination of the source of androgen excess.
Cionco, R. G.; Vucetich, H.; Orellana, R.; Arias, E. F.
En base a las diferencias de posición y movimientos propios de 101352 estrellas con posición SAO observadas por HIPPARCOS y utilizando la naturaleza vectorial de esas diferencias, determinamos 6 parámetros de orientación global (3 de rotación y 3 de desplazamiento axial), para los sistemas de referencia asociados a los marcos mencionados, mediante una descomposición en serie de armónicos vectoriales ortogonales.
Johnson, S R; Elkins, T E
Prenatal diagnosis raises complex ethical issues not only in terms of individual decision making, but also in the development of clinical services and the formulation of public policy regarding access and funding. The motivation behind prenatal diagnosis is generally to provide the family with information regarding the pregnancy so that the outcome can be improved or, in the case of severely affected pregnancies, a decision can be made about pregnancy termination. Although many of the ethical issues involved in prenatal diagnosis and treatment overlap those common to all types of diagnostic procedures, the former situation is complicated by controversy about the moral status of the fetus and the use of selective abortion as a form of treatment. While there is general agreement that pregnancy termination after the 2nd trimester can be justified if the fetus is afflicted with a condition that is incompatible with postnatal survival or characterized by the virtual absence of cognitive functioning, the disposition of a fetus afflicted with a non-life-threatening physical or mental disability (e.g., Down's syndrome) is more controversial. An additional concern is that women with positive screening test results may choose elective abortion rather than undergo a definitive work-up. The issue of maternal versus fetal rights is perhaps the single most controversial dilemma. Here, the basic ethical dilemma is the conflict between respecting maternal autonomy versus acting beneficently toward the fetus. As a general rule, the more invasive the medical technique and the less certain the benefit to the fetus (e.g., laparotomy), the more difficult it is to make a convincing argument for forced interventions involving the mother's body. Situations in which compelling arguments can be made for forced interventions against the will of the mother are those where an otherwise healthy infant will die without immediate intervention or failure to perform a procedure will result in the
Crow, Judy; Rushby, John
We extend Reiter's general theory of model-based diagnosis to a theory of fault detection, identification, and reconfiguration (FDIR). The generality of Reiter's theory readily supports an extension in which the problem of reconfiguration is viewed as a close analog of the problem of diagnosis. Using a reconfiguration predicate 'rcfg' analogous to the abnormality predicate 'ab,' we derive a strategy for reconfiguration by transforming the corresponding strategy for diagnosis. There are two obvious benefits of this approach: algorithms for diagnosis can be exploited as algorithms for reconfiguration and we have a theoretical framework for an integrated approach to FDIR. As a first step toward realizing these benefits we show that a class of diagnosis engines can be used for reconfiguration and we discuss algorithms for integrated FDIR. We argue that integrating recovery and diagnosis is an essential next step if this technology is to be useful for practical applications.
Fijany, Amir; Vatan, Farrokh; Barrett, Anthony; James, Mark; Mackey, Ryan; Williams, Colin
An efficient diagnosis engine - a combination of mathematical models and algorithms - has been developed for identifying faulty components in a possibly complex engineering system. This model-based diagnosis engine embodies a twofold approach to reducing, relative to prior model-based diagnosis engines, the amount of computation needed to perform a thorough, accurate diagnosis. The first part of the approach involves a reconstruction of the general diagnostic engine to reduce the complexity of the mathematical-model calculations and of the software needed to perform them. The second part of the approach involves algorithms for computing a minimal diagnosis (the term "minimal diagnosis" is defined below). A somewhat lengthy background discussion is prerequisite to a meaningful summary of the innovative aspects of the present efficient model-based diagnosis engine. In model-based diagnosis, the function of each component and the relationships among all the components of the engineering system to be diagnosed are represented as a logical system denoted the system description (SD). Hence, the expected normal behavior of the engineering system is the set of logical consequences of the SD. Faulty components lead to inconsistencies between the observed behaviors of the system and the SD (see figure). Diagnosis - the task of finding faulty components - is reduced to finding those components, the abnormalities of which could explain all the inconsistencies. The solution of the diagnosis problem should be a minimal diagnosis, which is a minimal set of faulty components. A minimal diagnosis stands in contradistinction to the trivial solution, in which all components are deemed to be faulty, and which, therefore, always explains all inconsistencies.
but the methodological principles involved were never made explicit. In contrast, the Piagetian tradition can be said to have begun with a...to formalize Piagetian diagnosis (Smedslund, 1969), but the Piagetian approach to diagnosis is competence oriented. The diagnosis is intended to reveal...used by Piaget are quite abstract. In short, Piagetian methods are not process-oriented. The first successful attempt to produce a well-specified
Nieto, Antonio; Nieto, María; Mazón, Angel
The traditional diagnosis of allergy by Prick tests and/or RAST offers very limited information about the real nature of allergic problems and of their clinical, therapeutic and prognostic implications. The diagnosis by allergic components (natural or recombinant) suppose a great qualitative step leading a great improving in the diagnosis and treatment of allergic patients, because its use with clinical history and other diagnostic in vivo or in vitro methods improve importantly the diagnostic accuracy.
Shadgan, Babak; Macnab, Andrew; Stothers, Lynn; Nigro, Mark; Afshar, Kourosh; Kajbafzadeh, A. M.
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.
Fociani, P; Carsana, L; Zerbi, P; Ferri, A; Sampietro, G M; Vago, G
In front of the suspicious diagnosis of an inflammatory bowel disease (IBD), the pathologist must have adequate and complete clinical, anamnestic, instrumental informations and, if possible, the previous histopathologic examinations. This is necessary because: the diagnosis of IBD is made with exclusion criteria, different pathologic entities may have similar macroscopic and microscopic findings and the characteristic lesions are often present in little number. The authors consider in this paper the problem of the differential diagnosis of IBD.
Healy, G. M.; Redmond, C. E.; Stocker, E.; Connaghan, G.; Skehan, S. J.; Killeen, R. P.
Diffuse large B cell lymphomas (DLBCL) are an aggressive group of non-Hodgkin lymphoid malignancies which have diverse presentation and can have high mortality. Central nervous system relapse is rare but has poor survival. We present the diagnosis of primary mandibular DLBCL and a unique minimally invasive diagnosis of secondary intracranial recurrence. This case highlights the manifold radiological contributions to the diagnosis and management of lymphoma. PMID:28018686
Kockott, G; Dittmar, F
Disorders of sexual libido are seldom organic, in general they are of psychological origin. It is, however, difficult to obtain a differential diagnosis. One of the first diagnostic considerations must be the establishment of primary or secondary libidinal dificit, or indeed, whether there is no libido at all. In cases of libido disorders with primary libido dificit, depression, organic disease, or side effects of pharmaca may be the cause. Libido disorders in the presence of functional libido, however, must be regarded as primarily psychologically caused. An exception are libido problems in the presence of diabetes mellitus and peripheral vasculatory defeciencies. In these cases libido is either totally absent or appears only secondarily. The symptomatology of libido disorders in the presence of depression, diabetes melitus, and peripheral vasculatory disturbancies, as well as psychologically caused erectile and ejaculatory difficulties are discussed in detail. These groups are compared with respect to libido and behavior involving erection, ejaculation, anxiety and avoidance.
Stanczyk, Frank Z
Biochemical derangements in ovarian, adrenal, and peripheral androgen production and metabolism play an important role in underlying causes of hyperandrogenism. Specific diagnostic serum markers such as testosterone (total) and dehydroepiandrosterone sulfate (DHEAS), respectively, may be helpful in the diagnosis of ovarian and adrenal hyperandrogenism, respectively. Validated immunoassays or mass spectrometry assays should be used to quantify testosterone, DHEAS and other principal androgens. Free testosterone measurements, determined by equilibrium dialysis or the calculated method, are advocated for routine evaluation of more subtle forms of hyperandrogenism. The skin, with its pilosebaceous units (PSUs), is an important site of active androgen production. A key regulator in PSUs is 5alpha-reductase, which transforms testosterone or androstenedione to dihydrotestosterone (DHT). DHT in blood is not effective in indicating the presence of hyperandrogenism. However, distal metabolites of DHT have been shown to be good markers of clinical manifestations of hirsutism, acne and alopecia. Assays for these peripheral markers need improvement for routine clinical testing.
Delpu, Yannick; Cordelier, Pierre; Cho, William C.; Torrisani, Jérôme
DNA methylation is a major epigenetic modification that is strongly involved in the physiological control of genome expression. DNA methylation patterns are largely modified in cancer cells and can therefore be used to distinguish cancer cells from normal tissues. This review describes the main technologies available for the detection and the discovery of aberrantly methylated DNA patterns. It also presents the different sources of biological samples suitable for DNA methylation studies. We discuss the interest and perspectives on the use of DNA methylation measurements for cancer diagnosis through examples of methylated genes commonly documented in the literature. The discussion leads to our consideration for why DNA methylation is not commonly used in clinical practice through an examination of the main requirements that constitute a reliable biomarker. Finally, we describe the main DNA methylation inhibitors currently used in clinical trials and those that exhibit promising results. PMID:23873296
Plontke, S K; Walther, L E
Vertigo and dizziness are symptoms of interdisciplinary dimension. However, the differentiation and classification of vertigo syndromes also require experience and multidisciplinary knowledge. Since the clinical syndrome is subjective, a detailed analysis of the complaints underlying is required. International disease definitions are an indispensable tool in the differential diagnosis of vertigo syndromes today. With simple diagnostic tools eye movement disorders and nystagmus can be examined and assigned to specific vestibular disorders today. Screening tests (e.g. head impulse test) are now an important instrument in the investigation of patients with vertigo syndromes in case of emergency. With objective diagnostic methods (caloric irrigation, video head impulse test, vestibular evoked myogenic potentials) the degree of functional impairment of the five vestibular receptors can be assessed quantitatively. Furthermore, in vestibulopathies, a receptor and side-specific diagnostic assessment can be performed even with regard to dynamic aspects.
Kolm, Isabell; Hofbauer, Günther; Braun, Ralph P
The skin is the most affected organ by cancer. The incidence rates of skin cancer are steadily increasing, both for melanoma and non-melanoma skin cancers (squamous cell carcinoma, basal cell carcinoma). Over 90 % of the death cases from skin cancers attribute to melanoma. Survival from melanoma is strongly related to tumour thickness. Therefore early detection is the most important step to improve prognosis. In the last years a number of new non invasive techniques for the early diagnosis of melanoma have been developed which are superior to the naked eye examination. In this overview article we present some non-invasive diagnostic techniques like total body photography, digital dermoscopy and confocal microscopy which in addition to dermoscopy assist the dermatologist in differentiating nevi from early melanomas.Non-melanoma skin cancer can be prevented by accurate sun protection. Early squamous cell carcinomas and basal cell carcinomas can be treated either invasively or non-invasively with excellent prognosis.
Fairweather, D V; Modell, B; Berdoukas, V; Alter, B P; Nathan, D G; Loukopoulos, D; Wood, W; Clegg, J B; Weatherall, D J
Haemoglobin synthesis was studied in fetal blood samples obtained at 17 to 20 weeks' gestation in 22 women at risk of carrying a fetus with homozygous beta-thalassaemia. A presumptive diagnosis of homozygous beta-thalassaemia was made in four cases, and the pregnancy was terminated. An inconclusive answer was obtained in one case, and the patient also chose to have her pregnancy terminated. Two fetuses were lost as a result of the procedure. Of the remaining 15 pregnancies, 13 proceeded to term and two to 36 weeks; in each case a normal infant or one heterozygous for beta-thalassaemia was delivered. Current efforts should be directed towards improving the blood sampling technology so that fetal blood sampling can be used widely in those countries where thalassaemia is a major problem.
Pablos, Isabel; Wildner, Sabrina; Asam, Claudia; Wallner, Michael; Gadermaier, Gabriele
Pollen allergens are one of the main causes of type I allergies affecting up to 30% of the population in industrialized countries. Climatic changes affect the duration and intensity of pollen seasons and may together with pollution contribute to increased incidences of respiratory allergy and asthma. Allergenic grasses, trees, and weeds often present similar habitats and flowering periods compromising clinical anamnesis. Molecule-based approaches enable distinction between genuine sensitization and clinically mostly irrelevant IgE cross-reactivity due to, e. g., panallergens or carbohydrate determinants. In addition, sensitivity as well as specificity can be improved and lead to identification of the primary sensitizing source which is particularly beneficial regarding polysensitized patients. This review gives an overview on relevant pollen allergens and their usefulness in daily practice. Appropriate allergy diagnosis is directly influencing decisions for therapeutic interventions, and thus, reliable biomarkers are pivotal when considering allergen immunotherapy in the context of precision medicine.
Henry, W. Desmond; Mann, Alan M.
Delirium is not a clinical entity but a symptom-complex of manifold etiology. Its presence signifies acute cerebral insufficiency and often represents a medical and/or psychiatric emergency. Though some forms of delirium have distinctive features, the fundamental phenomena are common to all, with clouding of consciousness the sine qua non. The condition has two major components: (1) the basic “acute brain syndrome” and (2) associated release phenomena. Clinicians must first make the vital differentiation between delirium and “functional” mental disorder, then proceed with the elucidation of the underlying diagnosis and the concurrent organization of symptomatic and etiologic treatment. Proper treatment combines management of the acute brain syndrome with general and specific procedures for control of the underlying condition. Dealing with the symptom-complex itself involves the principles and practice of sedation, hydration, and nutrition, nursing care and supportive measures. Provided the basic organic condition is treatable, the prognosis today is usually good. PMID:5844423
Gelabert-González, Miguel; Santín-Amo, José María; Aran-Echabe, Eduardo; García-Allut, Alfredo
Arachnoid cysts are malformed lesions that contain a fluid similar to the cerebrospinal fluid, and are usually located within the arachnoidal membrane. They represent 1% of all intracranial lesions, and in recent years, with the development of radiological techniques, the clinical detectability of arachnoid cysts seems to have increased. Although the majority of diagnosed arachnoid cysts are located in the cranial cavity and especially in the Sylvian fissure, a small number are located at spinal level and they can occur extra- or intra-spinally. An analysis is carried out, detailing the various tests used for the diagnosis of both intracranial and spinal arachnoids cysts, analysing the indications of each one depending on the location of the cysts and patient age.
Cole, Charles; Gazewood, John
Impetigo is a highly contagious, superficial skin infection that most commonly affects children two to five years of age. The two types of impetigo are nonbullous impetigo (i.e., impetigo contagiosa) and bullous impetigo. The diagnosis usually is made clinically, but rarely a culture may be useful. Although impetigo usually heals spontaneously within two weeks without scarring, treatment helps relieve the discomfort, improve cosmetic appearance, and prevent the spread of an organism that may cause other illnesses (e.g., glomerulonephritis). There is no standard treatment for impetigo, and many options are available. The topical antibiotics mupirocin and fusidic acid are effective and may be superior to oral antibiotics. Oral antibiotics should be considered for patients with extensive disease. Oral penicillin V is seldom effective; otherwise there is no clear preference among antistaphylococcal penicillins, amoxicillin/clavulanate, cephalosporins, and macrolides, although resistance rates to erythromycin are rising. Topical disinfectants are not useful in the treatment of impetigo.
Stumpf, Astrid; Ständer, Sonja
Chronic pruritus (CP) is a frequent symptom in the general population; in 8% of all patients, it has a neuropathic origin. CP is of neuropathic origin when nerve fiber damage is responsible for the symptom. The damage can be caused by compression or degeneration of the nerve fibers in the skin or extracutaneous in peripheral nerves or the central nervous system. There are significant differences in the pathogenesis and in the clinical presentation of neuropathic CP. Localized neuropathic CP such as brachioradial pruritus or notalgia paresthetica are due to a circumscribed nerve compression and are often limited on the corresponding dermatome. In contrast, generalized neuropathic CP, as in small fiber neuropathies, may be associated with a systemic or metabolic underlying disease. It is not always easy to establish the diagnosis because a variety of diseases can be responsible for this type of CP. The present study shows an overview of possible diseases, diagnostic tools, and the relevant therapy strategies.
Millett, Peter J; Gobezie, Reuben; Boykin, Robert E
Osteoarthritis of the shoulder is a gradual wearing of the articular cartilage that leads to pain and stiffness. As the joint surface degenerates, the subchondral bone remodels, losing its sphericity and congruity. The joint capsule also becomes thickened, leading to further loss of shoulder rotation. This painful condition is a growing problem in the aging population. In most cases, diagnosis of degenerative joint disease of the shoulder can be made with careful history, physical examination, and radiography. The symptoms and degree of shoulder arthritis visible on radiography determine the best treatment option. Mild degenerative joint disease can be treated with physical therapy and over-the-counter anti-inflammatory medications such as acetaminophen or nonsteroidal anti-inflammatory drugs. More advanced cases of osteoarthritis that are refractory to nonoperative management can be managed with corticosteroid injections. In severe cases, surgery is indicated. Surgical options include arthroscopic debridement, arthroscopic capsular release, and, in the most severe instances, hemiarthroplasty or total shoulder arthroplasty.
Hamza, A; Herr, D; Solomayer, E F; Meyberg-Solomayer, G
Polyhydramnios is defined as a pathological increase of amniotic fluid volume in pregnancy and is associated with increased perinatal morbidity and mortality. Common causes of polyhydramnios include gestational diabetes, fetal anomalies with disturbed fetal swallowing of amniotic fluid, fetal infections and other, rarer causes. The diagnosis is obtained by ultrasound. The prognosis of polyhydramnios depends on its cause and severity. Typical symptoms of polyhydramnios include maternal dyspnea, preterm labor, premature rupture of membranes (PPROM), abnormal fetal presentation, cord prolapse and postpartum hemorrhage. Due to its common etiology with gestational diabetes, polyhydramnios is often associated with fetal macrosomia. To prevent the above complications, there are two methods of prenatal treatment: amnioreduction and pharmacological treatment with non-steroidal anti-inflammatory drugs (NSAIDs). However, prenatal administration of NSAIDs to reduce amniotic fluid volumes has not been approved in Germany. In addition to conventional management, experimental therapies which would alter fetal diuresis are being considered.
Suzumori, Nobuhiro; Obayashi, Shintaro; Hattori, Yukio; Kaneko, Saori; Suzuki, Yoshikatsu; Sugiura-Ogasawara, Mayumi
We report four cases of persistent cloaca diagnosed at 32-33 weeks of gestation. In cases of persistent cloaca, serial prenatal ultrasonography shows transient fetal ascites, enlarged cystic structures arising from the fetal pelvis. Our four cases of persistent cloaca were diagnosed prenatally. Persistent cloaca should be considered in any female fetus presenting with hydronephrosis and a large cystic lesion arising from the pelvis as assessed by ultrasound and magnetic resonance imaging. Neither pulmonary hypoplasia nor severe oligohydramnios were found in any of our four cases, and they each had a good prognosis. Prenatal diagnosis allows time for parental counseling and delivery planning at a tertiary care center for neonatal intensive care and pediatric surgery.
Raman, Rajesh; Mukunda Jagadesh, Geetha
A twenty-year-old second gravida presented to the department of radiodiagnosis for routine obstetric ultrasound examination. Ultrasonography revealed a live fetus of 17 weeks with absent falx, fused thalami, monoventricle, proboscis, and cyclopia. Fetal MRI was performed and the findings were confirmed. Even though ultrasonography is diagnostic in the detection of fetal anomalies, MRI plays a vital role due to its multiplanar capability and excellent soft tissue resolution. The importance of presenting this classical case of alobar holoprosencephaly is to sensitize the clinicians and radiologists to the imaging manifestations of holoprosencephaly and to stress the importance of early diagnosis. If diagnosed in utero at an early stage of pregnancy, termination can be performed and maternal psychological trauma of bearing a deformed fetus can be avoided. PMID:25126440
Moloney, Margaret F; Johnson, Constance J
In spite of the fact that migraines are one of the major problems seen by primary care providers, almost half of people with migraines do not obtain appropriate diagnosis and/or treatment. Migraine occurs in about 18% of women, and is often aggravated by hormonal shifts occurring around women's menses, during pregnancy, and during perimenopause. Quality of life with migraines is often greatly diminished, and many women miss work days and/or are less productive with migraines. Women's health care providers are very likely to see women with poorly managed migraines, but are often not comfortable diagnosing and treating their patients with headaches. A variety of self-care treatments, acute care prescription and non-prescription headache medications, and preventive medications are available and if used by a knowledgeable provider can provide relief for many women who might not otherwise receive appropriate care.
Singh, Deepak Kumar; Singh, Neha; Singh, Ragini; Husain, Nuzhat
Astroblastoma is a rare glial neoplasm whose histogenesis has been clarified recently. It primarily occurs in children and young adults. We are reporting a case of 12-year-old girl child who presented with features of raised intracranial tension and generalized tonic-clonic seizures. Brain magnetic resonance imaging revealed a large well-circumscribed, cystic lesion without perifocal edema, and enhancing mural nodule in right parietal region. A radiological differential diagnosis of pilocytic astrocytoma and cerebral astroblastoma was made. A complete excision was done and histologically the lesion turned out to be an astroblastoma. We review the histology, immunohistochemistry, and imaging features of astroblastoma and survey the current literature, treatment strategies, and prognostic aspects for the management of this rare neoplasm. PMID:24891904
Kirschner, Jonathan S; Foye, Patrick M; Cole, Jeffrey L
Piriformis syndrome (PS) is an uncommon cause of sciatica that involves buttock pain referred to the leg. Diagnosis is often difficult, and it is one of exclusion due to few validated and standardized diagnostic tests. Treatment for PS has historically focused on stretching and physical therapy modalities, with refractory patients also receiving anesthetic and corticosteroid injections into the piriformis muscle origin, belly, muscle sheath, or sciatic nerve sheath. Recently, the use of botulinum toxin (BTX) to treat PS has gained popularity. Its use is aimed at relieving sciatic nerve compression and inherent muscle pain from a tight piriformis. BTX is being used increasingly for myofascial pain syndromes, and some studies have demonstrated superior efficacy to corticosteroid injection. The success of BTX in treating PS supports the prevailing pathoanatomic etiology of the condition and suggests a promising future for BTX in the treatment of other myofascial pain syndromes.
Hypopituitarism is a chronic endocrine illness that caused by varied etiologies. Clinical manifestations of hypopituitarism are variable, often insidious in onset and dependent on the degree and severity of hormone deficiency. However, it is associated with increased mortality and morbidity. Therefore, early diagnosis and prompt treatment is necessary. Hypopituitarism can be easily diagnosed by measuring basal pituitary and target hormone levels except growth hormone (GH) and adrenocorticotropic hormone (ACTH) deficiency. Dynamic stimulation tests are indicated in equivocal basal hormone levels and GH/ACTH deficiency. Knowledge of the use and limitations of these stimulation tests is mandatory for proper interpretation. It is necessary for physicians to inform their patients that they may require lifetime treatment. Hormone replacement therapy should be individualized according to the specific needs of each patient, taking into account possible interactions. Long-term endocrinological follow-up of hypopituitary patients is important to monitor hormonal replacement regimes and avoid under- or overtreatment. PMID:26790380
Bittencourt, Aline Gomes; Alves, Ricardo Dourado; Ikari, Liliane Satomi; Burke, Patrick Rademaker; Gebrim, Eloisa Maria Santiago; Bento, Ricardo Ferreira
Introduction Schwannomas of the eighth cranial nerve are benign tumors that usually occur in the internal auditory canal or the cerebellopontine angle cistern. Rarely, these tumors may originate from the neural elements within the vestibule, cochlea, or semicircular canals and are called intralabyrinthine schwannomas. Intracochlear schwannomas (ICSs) represent a small percentage of these tumors, and their diagnosis is based on high-resolution magnetic resonance imaging (MRI). Objectives To report the clinical and radiologic features and audiometric testing results of an ICS in a 48-year-old man after a 22-month follow-up period. Resumed Report A patient with an 8-year history of persistent tinnitus in his right ear, combined with ipsilateral progressive hearing loss and aural fullness. Audiometry revealed normal hearing in the left ear and a moderate to severe sensorineural hearing loss in the right ear, with decreased speech reception threshold and word recognition score, compared with the exam performed 5 years previously. MRI showed a small intracochlear nodular lesion in the modiolus, isointense on T1 with a high contrast enhancement on T1 postgadolinium images. During the follow-up period, there were no radiologic changes on imaging studies. Thus, a wait-and-scan policy was chosen as the lesion remained stable with no considerable growth and the patient still presents with residual hearing. Conclusions Once diagnosed, not all ICS patients require surgery. Treatment options for ICS include stereotactic radiotherapy and rescanning policy, depending on the tumor's size, evidence of the tumor's growth, degree of hearing loss, intractable vestibular symptoms, concern about the pathologic diagnosis, and the patient's other medical conditions.
del Arco, Alfonso; Bertrand, María Luisa
Periprosthetic infection (PJI) is the most serious joint replacement complication, occurring in 0.8-1.9% of knee arthroplasties and 0.3-1.7% of hip arthroplasties. A definition of PJI was proposed in the November 2011 issue of the journal Clinical Orthopedics and Related Research. The presence of a fistula or of local inflammatory signs is indicative of PJI, but in many cases local pain is the only symptom. In the absence of underlying inflammatory conditions, C-reactive protein measurement is the most useful preoperative blood test for detecting infection associated with a prosthetic joint. The most useful preoperative diagnostic test is the aspiration of synovial joint fluid to obtain a total and differential cell count and culture. Intraoperative frozen sections of periprosthetic tissues produce excellent accuracy in predicting a diagnosis of PJI but only moderate accuracy in ruling out the diagnosis. In this process, obtaining a quality sample is the first step, and determines the quality of microbiological results. Specimens for culture should be obtained prior to the initiation of antibiotic treatment. Sonication of a removed implant may increase the culture yield. Plain radiography has low sensitivity and low specificity for detecting infection associated with a prosthetic joint. Computed tomography and magnetic resonance imaging may be useful in the evaluation of complex cases, but metal inserts interfere with these tests, and abnormalities may be non-specific. Labelled-leucocyte imaging (e.g., leucocytes labelled with indium-111) combined with bone marrow imaging with the use of technetium-99m–labelled sulphur colloid is considered the imaging test of choice when imaging is necessary. PMID:23898349
Pippitt, Karly; Li, Marlana; Gurgle, Holly E
Diabetes mellitus is one of the most common diagnoses made by family physicians. Uncontrolled diabetes can lead to blindness, limb amputation, kidney failure, and vascular and heart disease. Screening patients before signs and symptoms develop leads to earlier diagnosis and treatment, but may not reduce rates of end-organ damage. Randomized trials show that screening for type 2 diabetes does not reduce mortality after 10 years, although some data suggest mortality benefits after 23 to 30 years. Lifestyle and pharmacologic interventions decrease progression to diabetes in patients with impaired fasting glucose or impaired glucose tolerance. Screening for type 1 diabetes is not recommended. The U.S. Preventive Services Task Force recommends screening for abnormal blood glucose and type 2 diabetes in adults 40 to 70 years of age who are overweight or obese, and repeating testing every three years if results are normal. Individuals at higher risk should be considered for earlier and more frequent screening. The American Diabetes Association recommends screening for type 2 diabetes annually in patients 45 years and older, or in patients younger than 45 years with major risk factors. The diagnosis can be made with a fasting plasma glucose level of 126 mg per dL or greater; an A1C level of 6.5% or greater; a random plasma glucose level of 200 mg per dL or greater; or a 75-g two-hour oral glucose tolerance test with a plasma glucose level of 200 mg per dL or greater. Results should be confirmed with repeat testing on a subsequent day; however, a single random plasma glucose level of 200 mg per dL or greater with typical signs and symptoms of hyperglycemia likely indicates diabetes. Additional testing to determine the etiology of diabetes is not routinely recommended.
Ralston, Stuart H; Fraser, Jamie
Osteoporosis is a common condition characterised by low bone mineral density (BMD) and an increased risk of fragility fractures. It affects up to 30% of women and 12% of men at some point in their lives. Two of the most important risk factors are increasing age and female gender, although other common and potentially modifiable risk factors include long-term corticosteroid therapy, chronic inflammatory disease, malabsorption and untreated premature menopause. The diagnosis of osteoporosis can be confirmed by DEXA but this should only be performed in patients who have an increased risk of fracture on the basis of clinical risk factors. DEXA should be considered if the 10-year risk of major osteoporotic fracture is > 10%. If the BMD T-score values by DEXA at the lumbar spine, femoral neck or total hip are at or below -2.5 then the diagnosis of osteoporosis is confirmed. Vertebral fractures are generally taken as diagnostic of osteoporosis, even if spine BMD values are not in the osteoporotic range. Oral bisphosphonates are the first-line treatment. If they are contraindicated or not tolerated then parenteral therapy should be considered. There is evidence that fractures occur in glucocorticoid-induced osteoporosis at higher levels of BMD than in postmenopausal osteoporosis so therapy should be considered in patients with a BMD T-score of <-1.5. Although it is useful to have a DEXA scan before starting treatment to provide a baseline value to assess response, this investigation is not absolutely necessary to initiate bone protective therapy, especially in those aged above 65 since the vast majority of these patients will have a T-score of -1.5 or below. In younger individuals where BMD is likely to be higher DEXA is useful in determining if bone protective treatment is needed immediately or if it could be delayed until the T score falls below -1.5.
Nicholson, Timothy R J; Stone, Jon; Kanaan, Richard A A
The diagnosis of conversion disorder is problematic. Since doctors have conceptually and practically differentiated the symptoms from neurological ('organic') disease it has been presumed to be a psychological disorder, but the psychological mechanism, and how this differs from feigning (conscious simulation), has remained elusive. Although misdiagnosis of neurological disease as conversion disorder is uncommon, it remains a concern for clinicians, particularly for psychiatrists who may be unaware of the positive ways in which neurologists can exclude organic disease. The diagnosis is anomalous in psychiatry in that current diagnostic systems require that feigning is excluded and that the symptoms can be explained psychologically. In practice, feigning is very difficult to either disprove or prove, and a psychological explanation cannot always be found. Studies of childhood and adult psychological precipitants have tended to support the relevance of stressful life events prior to symptom onset at the group level but they are not found in a substantial proportion of cases. These problems highlight serious theoretical and practical issues not just for the current diagnostic systems but for the concept of the disorder itself. Psychology, physiology and functional imaging techniques have been used in attempts to elucidate the neurobiology of conversion disorder and to differentiate it from feigning, but while intriguing results are emerging they can only be considered preliminary. Such work looks to a future that could refine our understanding of the disorder. However, until that time, the formal diagnostic requirement for associated psychological stressors and the exclusion of feigning are of limited clinical value. Simplified criteria are suggested which will also encourage cooperation between neurology and psychiatry in the management of these patients.
Menzies, R I; Fitzgerald, J M; Mulpeter, K
In a prospective study of 98 consecutive patients with undiagnosed ascites examined by laparoscopy a correct immediate diagnosis was made in 76 (78%) and a final diagnosis in 92 (94%) of those who underwent laparoscopy. Visual diagnosis was highly accurate in patients with tuberculous peritonitis but only moderately accurate in those with carcinomatosis and liver disease. When the laparoscopic findings were compared with histological and microbiological results visual diagnosis was found to be the most accurate diagnostic method. Laparoscopy may readily be used in rural hospitals for diagnosing ascites. PMID:3160432
Zhang, Yuqian; Yang, Dongliang; Weng, Lixing; Wang, Lianhui
Lung cancer causes an extreme threat to human health, and the mortality rate due to lung cancer has not decreased during the last decade. Prognosis or early diagnosis could help reduce the mortality rate. If microRNA and tumor-associated antigens (TAAs), as well as the corresponding autoantibodies, can be detected prior to clinical diagnosis, such high sensitivity of biosensors makes the early diagnosis and prognosis of cancer realizable. This review provides an overview of tumor-associated biomarker identifying methods and the biosensor technology available today. Laboratorial researches utilizing biosensors for early lung cancer diagnosis will be highlighted. PMID:23892596
Manes, R Peter; Batra, Pete S
Chronic rhinosinusitis (CRS) is a common health care problem, yet many aspects of this diagnosis remain poorly understood. Its etiology is often debated and remains a significant area of research. The diagnosis of CRS is based on subjective symptoms, duration of symptoms and objective evidence of inflammation. Each of these criteria must be met to make a diagnosis of CRS. Management of CRS often involves a combination of systemic and topical therapies with surgery reserved for patients who fail medical therapy. This review provides a comprehensive view of the etiology, diagnosis and management of CRS.
Deeley, T. J.
Earlier diagnosis of malignant disease in the lung may bring about improvements in the treatment. This article discusses the effects of early diagnosis on the prognosis. Cancer of the lung may be associated with other lung pathology, thus increasing the problems of diagnosis. Diagnosis depends on radiological examination, cytology of the sputum, radio-isotope lung scanning and mediastinoscopy: an account is given of how these may be used to diagnose the condition whilst it is still at an early stage and suitable for radical treatment. PMID:4552427
Tek, F Boray; Dempster, Andrew G; Kale, Izzet
This paper reviews computer vision and image analysis studies aiming at automated diagnosis or screening of malaria infection in microscope images of thin blood film smears. Existing works interpret the diagnosis problem differently or propose partial solutions to the problem. A critique of these works is furnished. In addition, a general pattern recognition framework to perform diagnosis, which includes image acquisition, pre-processing, segmentation, and pattern classification components, is described. The open problems are addressed and a perspective of the future work for realization of automated microscopy diagnosis of malaria is provided.
The diagnosis of tuberculous aetiology in pericardial effusions is important since the prognosis is excellent with specific treatment. The clinical features may not be distinctive and the diagnosis could be missed particularly with tamponade. With the spread of HIV infection the incidence has increased. The diagnosis largely depends on histopathology of the pericardial tissue or culture of Mycobacterium tuberculosis from this tissue or fluid, but patients without haemodynamic compromise do not require pericardiocentesis. Histopathology may, however, show non-specific findings in a significant number. This review is an update on the diagnostic difficulties, current research, and criteria for diagnosis. PMID:15138314
Reiter, R; Hoffmann, T K; Rotter, N; Pickhard, A; Scheithauer, M O; Brosch, S
Etiology of vocal fold paralysis is broad: e. g. iatrogenic/traumatic, associated with neoplasms or with systemic diseases. The cause of idiopathic paralysis is unknown. The main symptom of unilateral vocal fold paralysis is hoarseness because of a remaining glottic gap during phonation. Patients with bilateral vocal fold paralysis typically have no impairment of the voice but dyspnea. Examination of patients with an idopathic vocal fold paralysis is a CT of the vagal nerve and recurrent laryngeal nerve from skull base to neck and mediastinum. Serological tests are not obligatory. Differential diagnosis of vocal fold immobility is vocal fold paralysis/neurological causes and arthrogene causes such as arytenoid subluxation, interarytenoid adhesion and vocal fold fixation in laryngeal carcinomas. Voice therapy is a promising approach for patients with unilateral vocal fold paralysis, but not all patients benefit sufficiently. Temporary vocal fold augmentation by injection medialization results in satisfactory voice quality that is comparable with a thyroplasty. Patients with bilateral vocal fold immobility show typically dyspnea requiring immediate therapy such as temporary tracheotomy or reversible laterofixation of the paralyzed vocal chord. If the paralysis persists a definitive enlargement of the glottic airway by eg. arytenoidectomy needs to be performed.
Kurande, Vrinda; Waagepetersen, Rasmus; Toft, Egon; Prasad, Ramjee; Raturi, Lokesh
In Ayurveda, pulse diagnosis and body constitution diagnosis have a long historical use; still, there is lack of quantitative measure of the reliability of these diagnostic methods. Reliability means consistency of information. Consistent diagnosis leads to consistent treatment and is important for clinical practice, education, and research. The objective of this study is to study the methodology to evaluate the test-retest reliability (repeatability) of pulse diagnosis and body constitution diagnosis. A double-blinded, controlled, clinical trial was conducted in Copenhagen. The same doctor, an expert in Ayurvedic pulse diagnosis, examined the pulse and body constitution of 17 healthy participants twice, in random order without seeing them. A metric on pulse and body constitution variables was developed. Cohen's weighted kappa statistic was used as a measure of intra-rater reliability. Permutation tests were used to test the hypothesis of homogeneous diagnosis (ie, the doctor's diagnosis does not depend on the subject). The hypothesis of homogeneous classification was rejected on the 5% significance level (P values of .02 and .001, respectively, for pulse and body constitution diagnosis). According to the Landis and Koch scale, values of the weighted kappa for pulse diagnosis (P = .42) and body constitution diagnosis (P = .65) correspond to "moderate" and "substantial" agreement, respectively. There was a reasonable level of consistency between 2 pulse and body constitution diagnoses. Further studies are required to quantify inter-subject and intra-subject agreement for greater understanding of reliability of pulse and body constitution diagnosis.
Triticum aestivum (bread wheat) is the most widely grown crop worldwide. In genetically predisposed individuals, wheat can cause specific immune responses. A food allergy to wheat is characterized by T helper type 2 activation which can result in immunoglobulin E (IgE) and non-IgE mediated reactions. IgE mediated reactions are immediate, are characterized by the presence of wheat-specific IgE antibodies, and can be life-threatening. Non-IgE mediated reactions are characterized by chronic eosinophilic and lymphocytic infiltration of the gastrointestinal tract. IgE mediated responses to wheat can be related to wheat ingestion (food allergy) or wheat inhalation (respiratory allergy). A food allergy to wheat is more common in children and can be associated with a severe reaction such as anaphylaxis and wheat-dependent, exercise-induced anaphylaxis. An inhalation induced IgE mediated wheat allergy can cause baker's asthma or rhinitis, which are common occupational diseases in workers who have significant repetitive exposure to wheat flour, such as bakers. Non-IgE mediated food allergy reactions to wheat are mainly eosinophilic esophagitis (EoE) or eosinophilic gastritis (EG), which are both characterized by chronic eosinophilic inflammation. EG is a systemic disease, and is associated with severe inflammation that requires oral steroids to resolve. EoE is a less severe disease, which can lead to complications in feeding intolerance and fibrosis. In both EoE and EG, wheat allergy diagnosis is based on both an elimination diet preceded by a tissue biopsy obtained by esophagogastroduodenoscopy in order to show the effectiveness of the diet. Diagnosis of IgE mediated wheat allergy is based on the medical history, the detection of specific IgE to wheat, and oral food challenges. Currently, the main treatment of a wheat allergy is based on avoidance of wheat altogether. However, in the near future immunotherapy may represent a valid way to treat IgE mediated reactions to
Triticum aestivum (bread wheat) is the most widely grown crop worldwide. In genetically predisposed individuals, wheat can cause specific immune responses. A food allergy to wheat is characterized by T helper type 2 activation which can result in immunoglobulin E (IgE) and non-IgE mediated reactions. IgE mediated reactions are immediate, are characterized by the presence of wheat-specific IgE antibodies, and can be life-threatening. Non-IgE mediated reactions are characterized by chronic eosinophilic and lymphocytic infiltration of the gastrointestinal tract. IgE mediated responses to wheat can be related to wheat ingestion (food allergy) or wheat inhalation (respiratory allergy). A food allergy to wheat is more common in children and can be associated with a severe reaction such as anaphylaxis and wheat-dependent, exercise-induced anaphylaxis. An inhalation induced IgE mediated wheat allergy can cause baker’s asthma or rhinitis, which are common occupational diseases in workers who have significant repetitive exposure to wheat flour, such as bakers. Non-IgE mediated food allergy reactions to wheat are mainly eosinophilic esophagitis (EoE) or eosinophilic gastritis (EG), which are both characterized by chronic eosinophilic inflammation. EG is a systemic disease, and is associated with severe inflammation that requires oral steroids to resolve. EoE is a less severe disease, which can lead to complications in feeding intolerance and fibrosis. In both EoE and EG, wheat allergy diagnosis is based on both an elimination diet preceded by a tissue biopsy obtained by esophagogastroduodenoscopy in order to show the effectiveness of the diet. Diagnosis of IgE mediated wheat allergy is based on the medical history, the detection of specific IgE to wheat, and oral food challenges. Currently, the main treatment of a wheat allergy is based on avoidance of wheat altogether. However, in the near future immunotherapy may represent a valid way to treat IgE mediated reactions to
Diagnosis PRINCIPAL INVESTIGATOR: Bor-rong Chen, PhD CONTRACTING ORGANIZATION...REPORT TYPE Final 3. DATES COVERED 15 May 2013 - 15 November 2013 4. TITLE AND SUBTITLE Objective Method for Pain Detection/ Diagnosis 5a...Design of MoPASS System Architecture MoPASS Sensor Platform Development Streaming Firmware MoPASS PC Software MoPASS Desktop Application
Aydin, Cetin; Eris, Serenat; Yalcin, Yakup; Sen Selim, Halime
Double aneuploidy, the existence of two chromosomal abnormalities in the same individual, is a rare condition. Early diagnosis of this condition is important to offer termination of pregnancy in genetic counselling. Cytogenetic analysis with amniocentesis and ultrasound examination is valuable for diagnosis of double aneuploidy. In this report we present a case with the karyotype of 48XXY+21 diagnosed prenatally.
Zarcone, Jennifer R.; Hellings, Jessica A.; Schroeder, Stephen R.
The author of a paper on effects of risperidone on behavior in people with developmental disabilities rebuts a criticism by suggesting that a specific diagnosis of psychiatric disorder is unimportant, since risperidone was effective in reducing aberrant behavior regardless of psychiatric diagnosis and/or environmental contingencies. (Contains…
Bertram, Kelly L; Williams, David R
The diagnosis of cervical dystonia (CD) is based on physical examination and is therefore reliant on clinician experience. Due to variability of presenting symptoms it may be misdiagnosed, thus delaying the provision of effective treatment. We sought to determine the average time taken to make a diagnosis of CD in our clinical cohort and explore contributing factors to diagnostic delay. Forty-nine patients with a diagnosis of CD attending a movement disorder specialist for treatment completed a questionnaire regarding symptoms and clinical interactions at onset and diagnosis. The mean time from symptom onset to diagnosis was 6.8 years (range 0-53 years). More than 50% of patients sought physical therapies initially, prior to consulting their general practitioner. Only 40% of patients sought medical advice within the first 6 months of symptom onset and only 10% were given an initial diagnosis of CD. The first referral from the general practitioner was to a specialist other than a neurologist in 31% of patients. Patients were seen by a mean of three doctors (range one to nine) before being given the correct diagnosis of CD. Delay to diagnosis of CD may in part be due to lack of awareness of the condition amongst health care professionals. Improved diagnostic skill appears likely to have had a substantial impact on the delivery of appropriate treatment in this population.
Nelson, C Thomas
Imaging and laboratory studies can help with the diagnosis of heartworm disease in cats, but no test is definitive. Furthermore, even when the diagnosis can be reliably established, therapy directed at the heartworms does little to help the cat. Rather, management is directed at alleviating clinical signs, with an emphasis on prevention for all.
Lee, Jihyun; Corter, James E.
Diagnosis of misconceptions or "bugs" in procedural skills is difficult because of their unstable nature. This study addresses this problem by proposing and evaluating a probability-based approach to the diagnosis of bugs in children's multicolumn subtraction performance using Bayesian networks. This approach assumes a causal network relating…
The differential diagnosis of chicken tumors is important but has been difficult in practice for a variety of reasons. Methods and criteria have varied among laboratories. This poster is based on a new publication (1) designed to encourage greater standardization of tumor diagnosis. The use of a...
Turner, J. D.
The Knitting, Lace and Net Industry Training Board has developed a training innovation called fault diagnosis training. The entire training process concentrates on teaching based on the experiences of troubleshooters or any other employees whose main tasks involve fault diagnosis and rectification. (Author/DS)
Chen, C. H. Winston; Taranenko, N. I.; Zhu, Y. F.; Allman, S. L.; Tang, K.; Matteson, K. J.; Chang, L. Y.; Chung, C. N.; Martin, Steve; Haff, Lawrence
Laser desorption mass spectrometry has been used for molecular diagnosis of cystic fibrosis. Both 3-base deletion and single-base point mutation have been successfully detected by clinical samples. This new detection method can possibly speed up the diagnosis by one order of magnitude in the future. It may become a new biotechnology technique for population screening of genetic disease.
Stîngu, Cătilina Suzana; Turcu, Tatiana; Dimitriu, St
Microbiological findings together with clinical and radiological diagnosis are essential for rationale use of antibiotics in periodontal disease. Methods used for microbiological diagnosis are: microscopy, cultivation, gas liquid chromatography, PCR, immuno-assays (ELISA, immunofluorescence), FISH. Each of them has some advantages and disadvantages related to cost, accessibility, sensitivity, duration. The most used today are cultivation and PCR techniques.
Gredilla Molinero, J; Mancheño Losa, M; Santamaría Guinea, N; Arévalo Galeano, N; Grande Bárez, M
Otosclerosis is a primary osteodystrophy of the temporal bone that causes progressive conductive hearing loss. The diagnosis is generally clinical, but multidetector CT (MDCT), the imaging technique of choice, is sometimes necessary. The objective of this article is to systematically review the usefulness of imaging techniques for the diagnosis and postsurgical assessment of otosclerosis, fundamentally the role of MDCT, to decrease the surgical risk.
Sanz Moreno, Juan Carlos; De Ory Manchón, Fernando; González Alonso, Julia; de La Torre, José Luis; Salmerón, Francisco; Limia, Aurora; Tello, Odorina; Pachón, Isabel; Amela, Carmen; Vázquez, Julio; de Ory, Fernando; Sanz, Juan Carlos
Culture is the reference method for the diagnosis of infection by Bordetella pertussis. Nevertheless, delayed sample collection and previous antibiotic treatment can limit culture sensitivity. In principle, direct immunofluorescence provides immediate diagnosis. It is, however, a subjective procedure that shows low sensitivity and specificity. PCR techniques increase culture sensitivity while maintaining high specificity, but their performance decreases along the evolution of the disease. Serologic methods are the main alternative for cases in which diagnosis is delayed. Current recommendations center on ELISA techniques that include purified antigens, such as filamentous hemaglutinin, and particularly, pertussis toxin. Traditionally, serological diagnosis requires confirmation by demonstrated seroconversion, but now the possibility of diagnosis based on titration of a single serum sample is being evaluated.
Blough, Douglas M.; Sullivan, Gregory F.; Masson, Gerald M.
The problem of fault diagnosis in multiprocessor systems is considered under a uniformly probabilistic model in which processors are faulty with probability p. This work focuses on minimizing the number of tests that must be conducted in order to correctly diagnose the state of every processor in the system with high probability. A diagnosis algorithm that can correctly diagnose the state of every processor with probability approaching one in a class of systems performing slightly greater than a linear number of tests is presented. A nearly matching lower bound on the number of tests required to achieve correct diagnosis in arbitrary systems is also proven. The number of tests required under this probabilistic model is shown to be significantly less than under a bounded-size fault set model. Because the number of tests that must be conducted is a measure of the diagnosis overhead, these results represent a dramatic improvement in the performance of system-level diagnosis technique.
Knill, E.; Cox, P.T.; Pietrzykowski, T.
In logic-based diagnosis, the consistency-based method is used to determine the possible sets of faulty devices. If the fault models of the devices are incomplete or nondeterministic, then this method does not necessarily yield abductive explanations of system behavior. Such explanations give additional information about faulty behavior and can be used for prediction. Unfortunately, system descriptions for the consistency-based method are often not suitable for abductive diagnosis. Methods for completing the fault models for abductive diagnosis have been suggested informally by Poole and by Cox et al. Here we formalize these methods by introducing a standard form for system descriptions. The properties of these methods are determined in relation to consistency-based diagnosis and compared to other ideas for integrating consistency-based and abductive diagnosis.
Cantele, Héctor; Leyba, José Luis; Navarrete, Manuel; Llopla, Salvador Navarrete
Objective: To present an analysis of our experience with 22 consecutive cases of acute abdominal gynecologic emergencies managed with a laparoscopic approach. Methods: From March 1997 to October 1998, 22 patients with a diagnosis of acute abdominal gynecologic emergencies underwent laparoscopic intervention. A transvaginal ultrasound was performed on all patients preoperatively to supplement the diagnostic workup. Surgical time, complications, and length of hospital stay were evaluated, and the laparoscopic diagnosis was compared with the preoperative diagnosis. Results: The laparoscopic diagnosis was different from the preoperative diagnosis in 31.8% of patients. Of the 22 patients, laparoscopic therapeutic procedures were performed in 18 (81.8%), all satisfactorily, and with no need for conversion to open surgery. No morbidity or mortality occurred. Conclusion: Laparoscopy is a safe and effective method for diagnosing and treating gynecologic emergencies. PMID:14558712
Liu, Mingjia; Guo, Zhenhua
Facial color diagnosis is an important diagnostic method in traditional Chinese medicine (TCM). However, due to its qualitative, subjective and experi-ence-based nature, traditional facial color diagnosis has a very limited application in clinical medicine. To circumvent the subjective and qualitative problems of facial color diagnosis of Traditional Chinese Medicine, in this paper, we present a novel computer aided facial color diagnosis method (CAFCDM). The method has three parts: face Image Database, Image Preprocessing Module and Diagnosis Engine. Face Image Database is carried out on a group of 116 patients affected by 2 kinds of liver diseases and 29 healthy volunteers. The quantitative color feature is extracted from facial images by using popular digital image processing techni-ques. Then, KNN classifier is employed to model the relationship between the quantitative color feature and diseases. The results show that the method can properly identify three groups: healthy, severe hepatitis with jaundice and severe hepatitis without jaundice with accuracy higher than 73%.
Wagenlehner, Florian M E; Lichtenstern, Christoph; Rolfes, Caroline; Mayer, Konstantin; Uhle, Florian; Weidner, Wolfgang; Weigand, Markus A
Urosepsis is defined as sepsis caused by a urogenital tract infection. Urosepsis in adults comprises approximately 25% of all sepsis cases, and is in most cases due to complicated urinary tract infections. The urinary tract is the infection site of severe sepsis or septic shock in approximately 10-30% of cases. Severe sepsis and septic shock is a critical situation, with a reported mortality rate nowadays still ranging from 30% to 40%. Urosepsis is mainly a result of obstructed uropathy of the upper urinary tract, with ureterolithiasis being the most common cause. The complex pathogenesis of sepsis is initiated when pathogen or damage-associated molecular patterns recognized by pattern recognition receptors of the host innate immune system generate pro-inflammatory cytokines. A transition from the innate to the adaptive immune system follows until a T(H2) anti-inflammatory response takes over, leading to immunosuppression. Treatment of urosepsis comprises four major aspects: (i) early diagnosis; (ii) early goal-directed therapy including optimal pharmacodynamic exposure to antimicrobials both in the plasma and in the urinary tract; (iii) identification and control of the complicating factor in the urinary tract; and (iv) specific sepsis therapy. Early adequate tissue oxygenation, adequate initial antibiotic therapy, and rapid identification and control of the septic focus in the urinary tract are critical steps in the successful management of a patient with urosepsis, which includes early imaging, and an optimal interdisciplinary approach encompassing emergency unit, urological and intensive-care medicine specialists.
Fascioliasis is a trematode, disease of liver and bile ducts of sheep, cattle, and other ruminants throughout the world that is caused by the fluke, Fasciola hepatica. Human infection has been reported in Mexico, Cuba, Puerto Rico, Chile, Peru, Uruguay, Brazil, Argentina, the US, Europe, eastern Africa, Japan and Australia. The parasite's miracidium invades one of the various Lymnaea water snail hosts. Infection results from ingestion of encysted metacercariae attached to raw watercress (Nasturtium officinale). Symptoms recorded from human cases included irregular fever, epigastric pain and abdominal tenderness, obstructive jaundice and leucocytosis with eosinophilea up to 60%. Specific diagnosis is based on recovery of the eggs in the patient's stool or from biliary tract drainage. Treatment is with emetine hydrochloride given intramusculary. Bithionol is given orally at a dosage of 30-50 mg/kg but on alternate days from 10 to 15 doses. Praziquantel is probably effective. Preventive measures include education of the public on mode of transmission of life cycle of the parasite, and dipping fresh watercress into boiling water for a few sec, or drying suspected watercress.
Capozzoli, A.; Liseno, A.; Curcio, C.; Savarese, S.; Schipani, P.
An innovative method for the diagnosis of large reflector antennas from far field data in radio astronomical application is presented, which is based on the optimization of the number and the location of the far field sampling points required to retrieve the antenna status in terms of feed misalignments. In these applications a continuous monitoring of the Antenna Under Test (AUT), and its subsequent reassessment, is necessary to guarantee the optimal performances of the radiotelescope. The goal of the method is to reduce the measurement time length to minimize the effects of the time variations of both the measurement setup and of the environmental conditions, as well as the issues raised by the complex tracking of the source determined by a prolonged acquisition process. Furthermore, a short measurement process helps to shorten the idle time forced by the maintenance activity. The field radiated by the AUT is described by the aperture field method. The effects of the feed misalignments are modeled in terms of an aberration function, and the relationship between this function and the Far Field Pattern is recast in the linear map by expanding on a proper set of basis functions the perturbation function of the Aperture Field. These basis functions are determined using the Principal Component Analysis. Accordingly, from the Far Field Pattern, assumed measured in amplitude and phase, the unknown parameters defining the antenna status can be retrieved. The number and the position of the samples is then found by a Singular Values Optimization (SVO).
Smith, D. W.; Rawlinson, W. D.; Kok, J.; Dwyer, D. E.; Catton, M.
Summary Ebolaviruses, and the other viral causes of haemorrhagic fevers (VHF) have always posed special problems for diagnostic laboratories. These arise from the rarity of human infections, minimal documented experience with test delivery and interpretation, the paucity of established commercial or in-house assays, the lack of clinical material for test development and validation, the high level containment required for handling live virus, the ongoing evolution of the viruses, and the high personal and public health requirements for accurate diagnosis. This article addresses the current situation and the ongoing challenges associated with delivering timely, high quality and safe testing within Australia for people exposed as part of the current major outbreak of Ebolavirus disease (EVD) in Western Africa. The members of the Public Health Laboratory Network have developed deliverable and reliable nucleic acid detection tests, and also have the laboratory capacity to handle the live viruses if necessary. However delivering and maintaining these services necessitates high levels of experience in developing and applying tests for exotic and emerging infections, strong national and international links and collaborations, ongoing monitoring and reassessment of test design and performance, innovative approaches to generation of positive control material, and a regular quality assurance program. PMID:26126050
Humphries, Romney M.
SUMMARY Bacterial gastroenteritis is a disease that is pervasive in both the developing and developed worlds. While for the most part bacterial gastroenteritis is self-limiting, identification of an etiological agent by bacterial stool culture is required for the management of patients with severe or prolonged diarrhea, symptoms consistent with invasive disease, or a history that may predict a complicated course of disease. Importantly, characterization of bacterial enteropathogens from stool cultures in clinical laboratories is one of the primary means by which public health officials identify and track outbreaks of bacterial gastroenteritis. This article provides guidance for clinical microbiology laboratories that perform stool cultures. The general characteristics, epidemiology, and clinical manifestations of key bacterial enteropathogens are summarized. Information regarding optimal specimen collection, transport, and processing and current diagnostic tests and testing algorithms is provided. This article is an update of Cumitech 12A (P. H. Gilligan, J. M. Janda, M. A. Karmali, and J. M. Miller, Cumitech 12A, Laboratory diagnosis of bacterial diarrhea, 1992). PMID:25567220
Chen, Hongmin; Zhen, Zipeng; Todd, Trever; Chu, Paul K.; Xie, Jin
Despite the progress in developing new therapeutic modalities, cancer remains one of the leading diseases causing human mortality. This is mainly attributed to the inability to diagnose tumors in their early stage. By the time the tumor is confirmed, the cancer may have already metastasized, thereby making therapies challenging or even impossible. It is therefore crucial to develop new or to improve existing diagnostic tools to enable diagnosis of cancer in its early or even pre-syndrome stage. The emergence of nanotechnology has provided such a possibility. Unique physical and physiochemical properties allow nanoparticles to be utilized as tags with excellent sensitivity. When coupled with the appropriate targeting molecules, nanoparticle-based probes can interact with a biological system and sense biological changes on the molecular level with unprecedented accuracy. In the past several years, much progress has been made in applying nanotechnology to clinical imaging and diagnostics, and interdisciplinary efforts have made an impact on clinical cancer management. This article aims to review the progress in this exciting area with emphases on the preparation and engineering techniques that have been developed to assemble “smart” nanoprobes. PMID:24068857
Dulchavsky, Scott A.; Amponsah, David; Sargsyan, Ashot E.; Garcia, Kathleen M.; Hamilton, Douglas R.; vanHolsbeeck, Marnix
Introduction: This ground-based investigation accumulated high-level clinical evidence on the sensitivity and specificity of point of care ultrasound performed by expert and novice users for the rapid diagnosis of musculoskeletal (MSK) injuries. We developed preliminary educational methodologies to provide just-in-time training of novice users by creating multi-media training tools and imaging procedures for non expert operators and evaluated the sensitivity and specificity of non-expert performed musculoskeletal ultrasound to diagnose acute injuries in a Level 1 Trauma Center. Methods: Patients with potential MSK injuries were identified in the emergency room. A focused MSK ultrasound was performed by expert operators and compared to standard radiographs. A repeat examination was performed by non-expert operators who received a short, just-in-time multimedia education aid. The sensitivity and specificity of the expert and novice ultrasound examinations were compared to gold standard radiography. Results: Over 800 patients were enrolled in this study. The sensitivity and specificity of expert performed ultrasound exceeded 98% for MSK injuries. Novice operators achieved 97% sensitivity and 99% specificity for targeted examinations with the greatest error in fractures involving the hand and foot. Conclusion: Point of care ultrasound is a sensitive and specific diagnostic test for MSK injury when performed by experts and just-in-time trained novice operators.
Crawford, Paul; Zimmerman, Ethan E
Tremor, an involuntary, rhythmic, oscillatory movement of a body part, is the most common movement disorder encountered in clinical practice. Rest tremors occur in a body part that is relaxed and completely supported against gravity. Action tremors occur with voluntary contraction of a muscle and can be further subdivided into postural, isometric, and kinetic tremors. All persons have low-amplitude, high-frequency physiologic tremors at rest and during action that are not reported as symptomatic. The most common pathologic tremor is essential tremor. In one-half of cases, it is transmitted in an autosomal dominant fashion, and it affects 0.4 to 6 percent of the population. More than 70 percent of patients with Parkinson disease have tremor as the presenting feature. This tremor is typically asymmetric, occurs at rest, and becomes less prominent with voluntary movement. Features consistent with psychogenic tremor are abrupt onset, spontaneous remission, changing tremor characteristics, and extinction with distraction. Other types of tremor are cerebellar, dystonic, drug- or metabolic-induced, and orthostatic. The first step in the evaluation of a patient with tremor is to categorize the tremor based on its activation condition, topographic distribution, and frequency. The diagnosis of tremor is based on clinical information obtained from a thorough history and physical examination. For particularly difficult cases, single-photon emission computed tomography to visualize the integrity of the dopaminergic pathways in the brain may be useful to diagnose Parkinson disease.
Smith, D W; Rawlinson, W D; Kok, J; Dwyer, D E; Catton, M
Ebolaviruses, and the other viral causes of haemorrhagic fevers (VHF) have always posed special problems for diagnostic laboratories. These arise from the rarity of human infections, minimal documented experience with test delivery and interpretation, the paucity of established commercial or in-house assays, the lack of clinical material for test development and validation, the high level containment required for handling live virus, the ongoing evolution of the viruses, and the high personal and public health requirements for accurate diagnosis. This article addresses the current situation and the ongoing challenges associated with delivering timely, high quality and safe testing within Australia for people exposed as part of the current major outbreak of Ebolavirus disease (EVD) in Western Africa. The members of the Public Health Laboratory Network have developed deliverable and reliable nucleic acid detection tests, and also have the laboratory capacity to handle the live viruses if necessary. However delivering and maintaining these services necessitates high levels of experience in developing and applying tests for exotic and emerging infections, strong national and international links and collaborations, ongoing monitoring and reassessment of test design and performance, innovative approaches to generation of positive control material, and a regular quality assurance program.
McGoon, Michael D.; Kane, Garvan C.
Pulmonary arterial hypertension is a progressive, symptomatic, and ultimately fatal disorder for which substantial advances in treatment have been made during the past decade. Effective management requires timely recognition and accurate diagnosis of the disorder and appropriate selection among therapeutic alternatives. Despite progress in treatment, obstacles remain that impede the achievement of optimal outcomes. The current article provides an overview of the pathobiologic mechanisms of pulmonary arterial hypertension, including genetic substrates and molecular and cellular mechanisms, and describes the clinical manifestations and classification of pulmonary arterial hypertension. The article also reviews established approaches to evaluation and treatment, with emphasis on the appropriate application of calcium channel blockers, prostacyclin analogues, endothelin receptor antagonists, and phosphodiesterase 5 inhibitors. In addition, the authors discuss unresolved issues that may complicate patient management, such as the clinical importance of mild or exercise-related pulmonary arterial hypertension, and they identify avenues by which treatment may advance in the future through the use of combination treatment, outcomes assessment, and exploration of alternative pharmacologic strategies. PMID:19181654
Khandaker, Masud H; Espinosa, Raul E; Nishimura, Rick A; Sinak, Lawrence J; Hayes, Sharonne N; Melduni, Rowlens M; Oh, Jae K
Pericardial diseases can present clinically as acute pericarditis, pericardial effusion, cardiac tamponade, and constrictive pericarditis. Patients can subsequently develop chronic or recurrent pericarditis. Structural abnormalities including congenitally absent pericardium and pericardial cysts are usually asymptomatic and are uncommon. Clinicians are often faced with several diagnostic and management questions relating to the various pericardial syndromes: What are the diagnostic criteria for the vast array of pericardial diseases? Which diagnostic tools should be used? Who requires hospitalization and who can be treated as an outpatient? Which medical management strategies have the best evidence base? When should corticosteroids be used? When should surgical pericardiectomy be considered? To identify relevant literature, we searched PubMed and MEDLINE using the keywords diagnosis, treatment, management, acute pericarditis, relapsing or recurrent pericarditis, pericardial effusion, cardiac tamponade, constrictive pericarditis, and restrictive cardiomyopathy. Studies were selected on the basis of clinical relevance and the impact on clinical practice. This review represents the currently available evidence and the experiences from the pericardial clinic at our institution to help guide the clinician in answering difficult diagnostic and management questions on pericardial diseases.
Infections with organisms that are resistant to various anti-microbial agents pose a serious challenge to effective management of infections. Resistance to antimicrobial agents, which may be intrinsic or acquired, has been noted in a wide variety of microorganisms causing human infections. These include resistance to antiviral agents in HIV, HBV, CMV and influenza virus, anti-parasitic agents in Plasmodium falciparum, anti-fungal agents in certain Candida species and MDR (multidrug-resistant) tuberculosis. It is however, the problem of multidrug-resistant bacterial infections (caused by MRSA, VRE, ESBL/AmpC/metallo-β lactamase producers and colistin-resistant Gram-negative bacilli) that has become a cause of major concern in clinical settings. Infections with these organisms can increase morbidity, mortality, increase the cost of therapy and increase the duration of hospitalization. The objective of this article is to review the question how early diagnosis of these infections, affects the overall management of infected or colonized patients, with regard to antimicrobial therapy. PMID:23302786
Maarbjerg, Stine; Di Stefano, Giulia; Bendtsen, Lars; Cruccu, Giorgio
Introduction Trigeminal neuralgia (TN) is characterized by touch-evoked unilateral brief shock-like paroxysmal pain in one or more divisions of the trigeminal nerve. In addition to the paroxysmal pain, some patients also have continuous pain. TN is divided into classical TN (CTN) and secondary TN (STN). Etiology and pathophysiology Demyelination of primary sensory trigeminal afferents in the root entry zone is the predominant pathophysiological mechanism. Most likely, demyelination paves the way for generation of ectopic impulses and ephaptic crosstalk. In a significant proportion of the patients, the demyelination is caused by a neurovascular conflict with morphological changes such as compression of the trigeminal root. However, there are also other unknown etiological factors, as only half of the CTN patients have morphological changes. STN is caused by multiple sclerosis or a space-occupying lesion affecting the trigeminal nerve. Differential diagnosis and treatment Important differential diagnoses include trigeminal autonomic cephalalgias, posttraumatic or postherpetic pain and other facial pains. First line treatment is prophylactic medication with sodium channel blockers, and second line treatment is neurosurgical intervention. Future perspectives Future studies should focus on genetics, unexplored etiological factors, sensory function, the neurosurgical outcome and complications, combination and neuromodulation treatment as well as development of new drugs with better tolerability.
da Silva, Ana Paula Simões; Shimba, Leandro Girardi; Ribas, Luiz Henrique Boraschi Vieira; de Almeida, Alexandre Simmonds; Naves, Vinicius; Duarte Júnior, Aires
The aim of this study was to alert doctors to the existence of Turco's injury and discus the existing treatments that have been described in the worldwide literature. A bibliographic survey of Lisfranc's injury and Turco's injury covering from 1985 to 2013 was conducted in the SciELO and PubMed databases. Among the 193 articles, those relating to bone-ligament injuries of the Lisfranc joint and high-energy trauma were excluded, as were the case reports. The patients selected were professional or amateur athletes who solely presented a ligament injury to the Lisfranc joint (Turco's injury), which was diagnosed from the history, physical examination, radiographs and magnetic resonance images. Non-athletic patients and those with associated bone injuries were excluded (10). According to the injury classification, the patients were treated by means of either an open or a closed procedure and then a standard rehabilitation protocol. Out of the 10 patients, five underwent conservative treatment and five underwent surgical treatment using different techniques and synthesis materials. We obtained two poor results, one satisfactory, five good and two excellent. We conclude that the correct diagnosis has a direct influence on the treatment and on the final result obtained, and that lack of knowledge of this injury is the main factor responsible for underdiagnosing Turco's injury. There is a need for randomized prospective studies comparing the types of synthesis and evolution of treated cases, in order to define the best treatment for this injury.
Brooks, Stuart; Morgan, Mamdouh
A prospective study of 238 patients was performed in a district general hospital to assess current diagnostic accuracy rates and to ascertain the use and the effectiveness of magnetic resonance imaging (MRI) scanning in reducing the number of negative arthroscopies. The pre-operative diagnosis of patients listed for knee arthroscopy was medial meniscus tear 94 (40%) and osteoarthritis 59 (25%). MRI scans were requested in 57 patients (24%) with medial meniscus tear representing 65% (37 patients). The correlation study was done between pre-operative diagnosis, MRI and arthroscopic diagnosis. Clinical diagnosis was as accurate as the MRI with 79% agreement between the preoperative diagnosis and arthroscopy compared to 77% agreement between MRI scan and arthroscopy. There was no evidence, in this study, that MRI scan can reduce the number of negative arthroscopies. Four normal MRI scans had positive arthroscopic diagnosis (two torn medial meniscus, one torn lateral meniscus and one chondromalacia patella). Out of 240 arthroscopies, there were only 10 normal knees (negative arthroscopy) representing 4% of the total number of knee arthroscopies; one patient of those 10 cases had MRI scan with ACL rupture diagnosis. Images Figure 1 Figure 2 PMID:12215031
Tsai, Nan-Chyuan; King, Yueh-Hsun; Lee, Rong-Mao
A full fault diagnosis for active magnetic bearing (AMB) and rotor systems to monitor the closed-loop operation and analyze fault patterns on-line in case any malfunction occurs is proposed in this paper. Most traditional approaches for fault diagnosis are based on actuator or sensor diagnosis individually and can solely detect a single fault at a time. This research combines two diagnosis methodologies by using both state estimators and parameter estimators to detect, identify and analyze actuators and sensors faults in AMB/rotor systems. The proposed fault diagnosis algorithm not only enhances the diagnosis accuracy, but also illustrates the capability to detect multiple sensors faults which occur concurrently. The efficacy of the presented algorithm has been verified by computer simulations and intensive experiments. The test rig for experiments is equipped with AMB, interface module (dSPACE DS1104), data acquisition unit MATLAB/Simulink simulation environment. At last, the fault patterns, such as bias, multiplicative loop gain variation and noise addition, can be identified by the algorithm presented in this work. In other words, the proposed diagnosis algorithm is able to detect faults at the first moment, find which sensors or actuators under failure and identify which fault pattern the found faults belong to.
Eastridge, Brian J; Blackbourne, Lorne; Wade, Charles E; Holcomb, John B
The threat of terrorist events on domestic soil remains an ever-present risk. Despite the notoriety of unconventional weapons, the mainstay in the armament of the terrorist organization is the conventional explosive. Conventional explosives are easily weaponized and readily obtainable, and the recipes are widely available over the Internet. According to the US Department of State and the Federal Bureau of Investigation, over one half of the global terrorist events involve explosions, averaging two explosive events per day worldwide in 2005 (Terrorism Research Center. Available at www.terrorism.com. Accessed April 1, 2007). The Future of Emergency Care in the United States Health System: Emergency Medical Services at the Crossroads, published by the Institute of Medicine, states that explosions were the most common cause of injuries associated with terrorism (Institute of Medicine Report: The Future of Emergency Care in the United States Health System: Emergency Medical Services at the Crossroads. Washington DC: National Academic Press, 2007). Explosive events have the potential to inflict numerous casualties with multiple injuries. The complexity of this scenario is exacerbated by the fact that few providers or medical facilities have experience with mass casualty events in which human and material resources can be rapidly overwhelmed. Care of explosive-related injury is based on same principles as that of standard trauma management paradigms. The basic difference between explosion-related injury and other injury mechanisms are the number of patients and multiplicity of injuries, which require a higher allocation of resources. With this caveat, the appropriate utilization of radiology resources has the potential to impact in-hospital diagnosis and triage and is an essential element in optimizing the management of the explosive-injured patients.
Clark, B E; Thein, S L
The haemoglobinopathies refer to a diverse group of inherited disorders characterized by a reduced synthesis of one or more globin chains (thalassaemias) or the synthesis of a structurally abnormal haemoglobin (Hb). In prevalent regions, the thalassaemias often coexist with a variety of structural Hb variants giving rise to complex genotypes and an extremely wide spectrum of clinical and haematological phenotypes. An appreciation of these phenotypes is needed to facilitate the definitive diagnosis of the causative mutations to inform management and counselling. Haematological and biochemical investigations, and family studies provide essential clues to the different interactions and are fundamental to DNA diagnostics of the Hb disorders. With the exception of a few rare deletions and rearrangements, the molecular lesions causing haemoglobinopathies are all identifiable by PCR-based techniques. Although a full spectrum of >1000 mutations causing haemoglobinopathies has been documented, in practice only a limited number are associated with disease states and clinical significance. Furthermore, each at-risk ethnic group has its own combination of common Hb variants and thalassaemia mutations. Prior identification of the ethnic origin is thus an important part of the diagnostic strategy which becomes less reliable in the UK because of the large ethnic mix. Although the current approach using a combination of different PCR-based techniques seems to work in most laboratories, practice pressures with the imminent implementation of universal antenatal screening for clinically significant Hb disorders in the UK will require a higher throughput approach for DNA diagnostics in the near future. The complex mutational spectrum and the compactness of the globin genes places them in an ideal position for the different non-gel based analytical platforms.
Fillaux, J; Magnaval, J-F
Toxocariasis is a helminth zoonosis caused by infection with the larvae of Toxocara spp. ascarid worms. Only two species, Toxocara canis and Toxocara cati, are recognised as causative agents of human disease. The best choice for serodiagnosis of the generalised forms of toxocariasis, visceral larva migrans (VLM) or covert toxocariasis, relies upon the initial use of TES-ELISA, after which any positive result should subsequently be tested by Western blotting (WB). Covert toxocariasis is mostly a benign infection, so a large majority of infected subjects are asymptomatic or have very few symptoms and therefore go undiagnosed. In this form, this helminthosis is often self-limiting, leaving residual specific antibodies. A positive serodiagnosis caused by residual antibodies that do not have any diagnostic significance can be associated with any infectious or non-infectious disease. If separated from the ongoing clinical and laboratory context, such a positive result has no diagnostic value and should be only taken into account after the possible etiologies of any observed syndromes have been ruled out. Unlike the methods used for the immunodiagnosis of bacterial, viral or protozoal (toxoplasmosis) infections, it is not possible with toxocariasis to assess the age of the presence of specific IgG using the levels of specific IgM because IgM antibodies can be found throughout the course of helminthiasis. The detection of other classes of immunoglobulins, namely IgE and IgA, the subclasses, namely IgG4 or circulating Ag was proven to be unable to discriminate between active and self-cured generalised toxocaral infections. Currently, the diagnosis of an active covert toxocariasis relies upon indirect arguments, e.g., the presence of otherwise unexplained symptoms along with blood eosinophilia and/or elevated levels of eosinophil cationic protein (ECP). This situation is far from ideal and more research should be carried out to solve this difficult problem.
To diagnose--in its true meaning--is a search for etiology. The different sides of psychiatric diagnoses in this century do reflect the various attempts of this search. Examples are: Kraepelin's concept of etiological unity (morbus) of a disease, Bonhoeffer's attempt of separating exogenous from endogenous psychoses, K. Schneider's definition of psychiatric illness in terms of medical disease, Kretschmer's and Rümke's multidimensional diagnoses and Essen-Möller's principle of separating (postponing) etiology from psychopathological syndromes. The situationa prognostic diagnosis plays its main role in everyday diagnosing. It presupposes that one can recognize, distinguish and differentiate between different symptoms and diseases. The decision for a specific treatment reveals which etiology one thinks to be the main one. It presupposes that one has constantly to consider the kind, the severity and the course of psychiatric disease, Nosological thinking is necessary. The term etiology has a twofold meaning in Greek. 1. cause = causa and 2. accusation, guilt = culpa. In diagnosing psychiatric illnesses this double aspect plays an important role, though unconsciously and unwillingly. Though somatogenic (metabolic) as well as psychogenic (reactive) etiologies are etiologies in the sense of causa there is a fundamental difference between them. They have a common causa materialis but a different causa efficiens. In the first instance it is the non-personal side (related to pure matter), in the second instance the personal side which makes the difference. Only a person can be responsible. Where responsibility does play a role, there also accusation and guilt play a role.
Roberts, J C; Flood, V H
Von Willebrand disease (VWD) is considered the most common inherited bleeding disorder and may also be the most difficult to diagnose. Clinical symptoms of VWD include predominantly mild mucosal bleeding; surgical bleeding may occur with specific challenges and joint bleeding can occur in the most severe forms. A family history either of diagnosed VWD or of bleeding symptoms is typically present. Laboratory diagnosis requires a series of assays of von Willebrand factor (VWF) quantity and function, and factor VIII activity, with no single straightforward diagnostic test available to either confirm or exclude the diagnosis. Newer assays of VWF function are becoming more available and useful in determining the laboratory diagnosis of VWD.
van Ingen, Jakko
Pulmonary disease is by far the most frequent disease caused by nontuberculous mycobacteria (NTM). To diagnose NTM pulmonary disease (NTM-PD), patients should have symptoms and radiologic signs suggestive of NTM-PD, and cultures of multiple respiratory tract samples must grow the same NTM species. Thus, the microbiological laboratory has a central role in the diagnosis of NTM-PD. This review summarizes currently available data on techniques involved in the microbiological diagnosis of NTM-PD, and aims to provide a framework for optimal microbiological diagnosis.
Massoure, P L; le Bouffos, V; Roubertie, F; Lafitte, S; Roudaut, R
We report the case of a 42 years woman known to have a cardiac heart failure attributed to restrictive cardiomyopathy for want of any other plausible diagnosis. Evolution and repeted investigations finally permitted to rectify the diagnosis by revealing a constrictive pericarditis, remained occult 9 years during. The differentiation of restrictive cardiomyopathy and constrictive pericarditis has been a perennial problem in clinical cardiology. Diagnosis of constrictive pericarditis is based on associated signs sometimes too poor to go straight to thoracotomy. We discuss the mean to approach more precisely this uncommon pattern named occult constrictive pericarditis.
Wu, Guihua; Zou, Dazhong; Cai, Haiyun; Liu, Yajun
Hashimoto's thyroiditis is a type of autoimmune thyroid disease with an increasing prevalence in past decades. Its diagnosisis mostly based on ultrasonography. Ultrasonography is a useful and essential tool to make this diagnosis based on the characteristics of the disease. In the differential diagnosis of thyroid nodules, ultrasound-guided fine-needle biopsy is an effective method to distinguish Hashimoto's thyroiditis from other thyroid disorders. One exciting and recent advance is that non-invasive ultrasound-based methods have supplemented fine-needle aspiration to diagnose Hashimoto's thyroiditis under more complex conditions. In this review, we discuss the recent advantages of ultrasonography in the diagnosis of Hashimoto's thyroiditis.
Taviloglu, Korhan; Yanar, Hakan
Necrotizing fasciitis (NF) is uncommon and difficult to diagnose, and it cause progressive morbidity until the infectious process is diagnosed and treated medically and surgically. The literature addressed NF contains confusing information, inaccurate bacteriologic data, and antiquated antibiotic therapy. A delay in diagnosis is associated with a grave prognosis and increased mortality. The main goal of the clinician must be to establish the diagnosis and initially treat the patient within the standard of care. This review is planned as a guide for the clinician in making an early diagnosis of NF and initiating effective medical and surgical therapy. PMID:17683625
Summers, Kim M; West, Jennifer A; Peterson, Madelyn M; Stark, Denis; McGill, James J; West, Malcolm J
Marfan syndrome (MFS) is a multisystem disorder of connective tissue that is inherited in an autosomal dominant fashion, and results from mutations in the FBN1 gene on chromosome 15. Diagnosis is challenging as it requires definition of diverse clinical features and input from a variety of specialists. Genetic testing of FBN1 is time consuming, expensive and complex, and may not solve the diagnostic dilemma. Failure to make a diagnosis or making an inappropriate diagnosis of MFS has social, lifestyle and medical consequences for the individual as well as the family.
Rossor, Martin N; Fox, Nick C; Mummery, Catherine J; Schott, Jonathan M; Warren, Jason D
A diagnosis of dementia is devastating at any age but diagnosis in younger patients presents a particular challenge. The differential diagnosis is broad as late presentation of metabolic disease is common and the burden of inherited dementia is higher in these patients than in patients with late-onset dementia. The presentation of the common degenerative diseases of late life, such as Alzheimer's disease, can be different when presenting in the fifth or sixth decade. Moreover, many of the young-onset dementias are treatable. The identification of causative genes for many of the inherited degenerative dementias has led to an understanding of the molecular pathology, which is also applicable to later-onset sporadic disease. This understanding offers the potential for future treatments to be tailored to a specific diagnosis of both young-onset and late-onset dementia. PMID:20650401
Atkinson, David J.
The need for automated diagnosis in aerospace systems and the approach of using knowledge-based systems are examined. Research issues in knowledge-based diagnosis which are important for aerospace applications are treated along with a review of recent relevant research developments in Artificial Intelligence. The design and operation of some existing knowledge-based diagnosis systems are described. The systems described and compared include the LES expert system for liquid oxygen loading at NASA Kennedy Space Center, the FAITH diagnosis system developed at the Jet Propulsion Laboratory, the PES procedural expert system developed at SRI International, the CSRL approach developed at Ohio State University, the StarPlan system developed by Ford Aerospace, the IDM integrated diagnostic model, and the DRAPhys diagnostic system developed at NASA Langley Research Center.
Lallas, Aimilios; Argenziano, Giuseppe; Moscarella, Elvira; Longo, Caterina; Simonetti, Vito; Zalaudek, Iris
The differential diagnosis of pigmented macules on the mottled chronic sun-damaged skin of the face is challenging and includes lentigo maligna (LM), pigmented actinic (solar) keratosis, solar lentigo, and lichen-planus-like keratosis. Although dermatoscopy improves the diagnostic accuracy of the unaided eye, the accurate diagnosis and management of pigmented facial macules remains one of the most challenging scenarios in daily practice. This is related to the fact that pigmented actinic (solar) keratosis, lichen-planus-like keratosis, and LM may reveal overlapping criteria, making their differential diagnosis clinically difficult. For this reason, practical rules have been introduced, which should help to minimize the risk for inappropriate diagnosis and management of LM.
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Recent advances in the molecular understanding of the porphyrias now offer specific diagnosis and precise definition of the types of genetic mutations involved in the disease. Molecular diagnostic testing is powerful and very useful in kindred evaluation and genetic counselling when a disease-responsible mutation has been identified in the family. It is also the only way to properly screen asymptomatic gene carriers, facilitating correct treatment and appropriate genetic counselling of family members at risk. However, it should be noted that DNA-based testing is for the diagnosis of the gene carrier status, but not for the diagnosis of clinical syndrome or severity of the disease, e.g. an acute attack. For the diagnosis of clinically expressed porphyrias, a logical stepwise approach including the analysis of porphyrins and their precursors should not be underestimated, as it is still very useful, and is often the best from the cost-effective point of view.
Leachman, Sancy A.; Merlino, Glenn
A computer, trained to classify skin cancers using image analysis alone, can now identify certain cancers as successfully as can skin-cancer doctors. What are the implications for the future of medical diagnosis? See Letter p.115
... Feature: Glaucoma Glaucoma: Symptoms, Diagnosis, Treatment and Latest Research Past Issues / Fall 2009 Table of Contents Symptoms ... patients may need to keep taking drugs. Latest Research Researchers are studying the causes of glaucoma, looking ...
Giannini, Peter J; Shetty, Kishore V
Oral candidiasis is the most common fungal infection in both the immunocompetent and the immunocompromised populations. This article reviews the clinical presentations of the different forms of oral candidiasis, as well as the diagnosis and management.
Breen, David P; Evans, Jonathan R; Farrell, Krista; Brayne, Carol; Barker, Roger A
The early and accurate diagnosis of Parkinson's disease (PD) is the first step towards optimal patient management. The aim of this study was to investigate the major determinants of delayed diagnosis in PD. We recruited a population-representative cohort of 239 newly-diagnosed PD patients who underwent clinical and neuropsychological evaluation. Non-parametric methods were used to define the factors associated with diagnostic delay. The median time from motor symptom onset to primary care physician (PCP) presentation was considerably longer than the time from PCP presentation to PD diagnosis (11 vs. 1 months). Male sex and presenting motor phenotype were independently associated with delayed PCP presentation on Cox regression analysis. Patients presenting with gait disturbance experienced the longest delay, whilst those presenting with tremor had the shortest. In summary, male sex and presenting motor phenotype are key determinants of delayed diagnosis in PD.
Tufo, Andrea; Desai, Gautam J; Cox, W Joshua
Psoas syndrome is an easily missed diagnosis. However, it is important to consider this condition as part of the differential diagnosis for patients presenting with low back pain--particularly for osteopathic physicians, because patients may view these practitioners as experts in musculoskeletal conditions. The authors describe the case of a 48-year-old man with a 6-month history of low back pain that had been attributed to "weak core muscles." The diagnosis of psoas syndrome was initially overlooked in this patient. After the correct diagnosis was made, he was treated by an osteopathic physician using osteopathic manipulative treatment, in conjunction with at-home stretches between office treatments. At his 1-month follow-up appointment, he demonstrated continued improvement of symptoms and a desire for further osteopathic manipulative treatment.
Triggiani, E; Belsey, R
The clinical manifestations, diagnosis, and surgical treatment of 110 cases of oesophageal trauma, admitted under the care of one surgical team between 1949 and 1973, are reviewed. The importance of early diagnosis and an aggressive surgical approach in the management of a potentially lethal situation are stressed. In our opinion, spontaneous rupture of the oesophagus, instrumental perforation, open and closed traumatic lesions, and postoperative anastomotic leaks are, as far as diagnosis and management are concerned, different aspects of the same desperate surgical problem. Oesophageal trauma is accompanied by a high morbidity and mortality rate if diagnosis and treatment are delayed. Perforations of the cervical oesophagus may be treated conservatively. Intrathoracic perforations demand an aggressive surgical appraoch; only exteriorisation followed by reconstruction at a later date offers a reasonable chance to save the life of the patient and ultimately restore continuity. PMID:882938
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Marfatia, Yogesh S.; Patel, Dimpal; Menon, Devi S.; Naswa, Smriti
Genital allergy should be considered as a possible diagnosis in all patients with genital soreness or irritation for which no infection or dermatosis can be identified and in whom symptoms remain unchanged or worsen with treatment. It is an underreported and underdiagnosed condition as patients may not complain about symptoms in this area. Moreover, diagnosis and therapy may not often be conducted by a dermatologist or allergologist. Therefore, many cases of allergic diseases in the genital area remain undetected. PMID:27190404
Lavinha, J; Sampaio, V; da Mata, E
We illustrate the application of recombinant DNA methods (namely Southern blotting) for the genotype diagnosis of haemoglobin Lepore Boston: the use of the restriction endonucleases PstI and XbaI along with a beta globin gene specific probe make it possible to detect a deletion of approximately 7kb which typically characterizes the delta beta Boston gene. The impact of using such methods in the prenatal diagnosis of major haemoglobinopathies is discussed.
Singh, Chanchal; Lodha, Pooja; Arora, Deepshikha; Prabhu Sharma, Akshatha; Kaul, Anita
Sirenomelia or "mermaid syndrome" is a rare congenital abnormality with an incidence of 1 in 60,000. We report a case diagnosed in the first trimester using two-dimensional, three-dimensional, and color Doppler ultrasound. With increasing emphasis on early diagnosis of fetal abnormalities, this case highlights the importance of looking for anomalies in the first trimester itself. In fact, the diagnosis of sirenomelia should be easier in the first trimester as severe oligohydramnios in later gestation hampers vision.
Trinchet, Jean-Claude; Grando, Véronique
When it is compensated, cirrhosis is usually asymptomatic meaning that many people with the disease are unaware they have it. It is however essential to establish with certainty the cirrhosis diagnosis as the condition is responsible for a number of complications such as liver cancer (most frequently hepatocellular carcinoma), gastrointestinal bleeding or severe liver failure. Knowledge of the diagnosis ensures the prevention, screening and early treatment of these complications.
Yamasaki, Hiroshi; Nakao, Minoru; Sako, Yasuhito; Nakaya, Kazuhiro; Sato, Marcello Otake; Ito, Akira
Molecular diagnosis for taeniasis and cysticercosis in humans on the basis of mitochondrial DNA analysis was reviewed. Development and application of three different methods, including restriction fragment length polymorphism analysis, base excision sequence scanning thymine-base analysis and multiplex PCR, were described. Moreover, molecular diagnosis of cysticerci found in specimens submitted for histopathology and the molecular detection of taeniasis using copro-DNA were discussed.
Existing techniques and methodologies for fault diagnosis are surveyed. The techniques run the gamut from theoretical artificial intelligence work to conventional software engineering applications. They are shown to define a spectrum of implementation alternatives where tradeoffs determine their position on the spectrum. Various tradeoffs include execution time limitations and memory requirements of the algorithms as well as their effectiveness in addressing the fault diagnosis problem.
Shin, Helen T
This article presents an overview of diaper dermatitis for the pediatric community. The pathogenesis, differential diagnosis, and management of this common condition in infancy are reviewed. This information will assist in making the appropriate diagnosis and managing this irritant contact dermatitis of the diaper area. With conservative management, most cases of irritant diaper dermatitis are self-limited. When the condition persists, one must consider other diagnoses.
treat toxic amblyopia and optic neuritises caused by the cyanide present in tobacco smoke.64,65 Hydroxycobalamin therapy is usually well tolerated,44,59...JAN 2009 2. REPORT TYPE N/A 3. DATES COVERED - 4. TITLE AND SUBTITLE Diagnosis and treatment of cyanide toxicity 5a. CONTRACT NUMBER 5b...ABSTRACT unclassified c. THIS PAGE unclassified Standard Form 298 (Rev. 8-98) Prescribed by ANSI Std Z39-18 Diagnosis and Treatment of Cyanide Toxicity
Context: Although pituitary tumors are common, pituitary carcinoma is very rare and is only diagnosed when pituitary tumor noncontiguous with the sellar region is demonstrated. Diagnosis is difficult, resulting in delays that may adversely effect outcome that is traditionally poor. Barriers to earlier diagnosis and management strategies for pituitary carcinoma are discussed. Evidence Acquisition: PubMed was employed to identify relevant studies, a review of the literature was conducted, and data were summarized and integrated from the author's perspective. Evidence Synthesis: The available data highlight the difficulties in diagnosis and management and practical challenges in conducting clinical trials in this rare condition. They suggest that earlier diagnosis with aggressive multimodal therapy may be advantageous in some cases. Conclusions: Although pituitary carcinoma remains difficult to diagnose and treat, recent developments have led to improved outcomes in selected cases. With broader use of molecular markers, efforts to modify current histopathological criteria for pituitary carcinoma diagnosis may now be possible. This would assist earlier diagnosis and, in combination with targeted therapies, potentially improve long-term survival. PMID:21956419
Neuropathic changes in the foot are common with a prevalence of approximately 1%. The diagnosis of neuropathic arthropathy is often delayed in diabetic patients with harmful consequences including amputation. The appropriate diagnosis and treatment can avoid an extensive programme of treatment with significant morbidity for the patient, high costs and delayed surgery. The pathogenesis of a Charcot foot involves repetitive micro-trauma in a foot with impaired sensation and neurovascular changes caused by pathological innervation of the blood vessels. In most cases, changes are due to a combination of both pathophysiological factors. The Charcot foot is triggered by a combination of mechanical, vascular and biological factors which can lead to late diagnosis and incorrect treatment and eventually to destruction of the foot. This review aims to raise awareness of the diagnosis of the Charcot foot (diabetic neuropathic osteoarthropathy and the differential diagnosis, erysipelas, peripheral arterial occlusive disease) and describe the ways in which the diagnosis may be made. The clinical diagnostic pathways based on different classifications are presented. Cite this article: Bone Joint J 2016;98-B:1155-9.
Sisteinas Dinmicos: hacia una Caracterizaci6n correct behaviour. In those cases the fault is not detected. Other en el Nivel de Conocimiento . In proceedings...Rodriguez, Carlos J. Alonso y Q. Isaac Moro. Clasificaci6n de patrones temporales en sistemas dinimicos mediante Boosting y Alineamiento dinamico
Introduction: Candidiasis or oral candidiasis is the most frequent mucocutaneous mycosis of the oral cavity. It is produced by the genus Candida, which is found in the oral cavity of 53% of the general population as a common commensal organism. One hundred and fifty species have been isolated in the oral cavity, and 80% of the isolates correspond to Candida albicans, which can colonize the oral cavity alone or in combination with other species. Transformation from commensal organism to pathogen depends on the intervention of different predisposing factors that modify the microenvironment of the oral cavity and favor the appearance of opportunistic infection. The present study offers a literature review on the diagnosis of oral candidiasis, with the purpose of establishing when complementary microbiological techniques for the diagnosis of oral candidiasis should be used, and which techniques are most commonly employed in routine clinical practice in order to establish a definitive diagnosis. Materials and methods: A Medline-PubMed, Scopus and Cochrane search was made covering the last 10 years. Results: The diagnosis of oral candidiasis is fundamentally clinical. Microbiological techniques are used when the clinical diagnosis needs to be confirmed, for establishing a differential diagnosis with other diseases, and in cases characterized by resistance to antifungal drugs. Biopsies in turn are indicated in patients with hyperplastic candidiasis. Staining (10% KOH) and culture (Sabouraud dextrose agar) are the methods most commonly used for diagnosing primary candidiasis. Identification of the individual species of Candida is usually carried out with CHROMagar Candida®. For the diagnosis of invasive candidiasis, and in cases requiring differentiation between C. albicans and C. dubliniensis, use is made of immunological and genetic techniques such as ELISA and PCR. Key words:Clinical, oral candidiasis, microbiology. PMID:24455095
Duijkers, Judith C. L. M.; Vissers, Constance Th. W. M.; Egger, Jos I. M.
In mental health, the term dual-diagnosis is used for the co-occurrence of Substance Use Disorder (SUD) with another mental disorder. These co-occurring disorders can have a shared cause, and can cause/intensify each other’s expression. Forming a threat to health and society, dual-diagnosis is associated with relapses in addiction-related behavior and a destructive lifestyle. This is due to a persistent failure to control impulses and the maintaining of inadequate self-regulatory behavior in daily life. Thus, several aspects of executive functioning like inhibitory, shifting and updating processes seem impaired in dual-diagnosis. Executive (dys-)function is currently even seen as a shared underlying key component of most mental disorders. However, the number of studies on diverse aspects of executive functioning in dual-diagnosis is limited. In the present review, a systematic overview of various aspects of executive functioning in dual-diagnosis is presented, striving for a prototypical profile of patients with dual-diagnosis. Looking at empirical results, inhibitory and shifting processes appear to be impaired for SUD combined with schizophrenia, bipolar disorder or cluster B personality disorders. Studies involving updating process tasks for dual-diagnosis were limited. More research that zooms in to the full diversity of these executive functions is needed in order to strengthen these findings. Detailed insight in the profile of strengths and weaknesses that underlies one’s behavior and is related to diagnostic classifications, can lead to tailor-made assessment and indications for treatment, pointing out which aspects need attention and/or training in one’s self-regulative abilities. PMID:27445939
Santos, M.; Díaz, L.; Torresano, J. A.; Rubio, L.; Samoudi, B.
Una de las principales aplicaciones actuales de los procesos de disociación multifotónica inducidos por radiación láser infrarroja (DMI) es la producción de radiales libres, con el fin de estudiar sus propiedades cinéticas y espectroscópicas. La disociación de moléculas poliatómicas en el IR con láseres de CO2 tiene lugar desde la superficie de energía molecular mas baja y conduce generalmente a la formación de fragmentos en el estado electrónico fundamental, con diversos grados de excitación vibracional. En el Grupo de Procesos Multifotónicos del Instituto de Estructura de la Materia del C.S.I.C. hemos puesto a punto la técnica de Fluorescencia Inducida por Láser (LIF) para la detección y análisis en tiempo real de los fragmentos producidos en la DMI inducida mediante uno o dos campos láseres de diferentes longitudes de onda. Objetivos de nuestro trabajo han sido el estudio de los canales de disociación mayoritarios y de las especies transitoria producidas, así como de la distribución de energía interna con que éstas son generadas. En particular hemos detectado mediante LIF las especies: C2, CF, CH, SiH2, CF2, CH2, SiHCl, y CF3 a partir de la disociación de, entre otras, las siguientes moléculas: C2H3Br, C3F6, C4H8Si, C2H5ClSi y CH5ClSi. En este trabajo presentamos algunos de los resultados obtenidos mediante el estudio por LIF de estos radicales: estudio temporal de la señal LIF obtenida con determinación de tiempos de vida, espectros de excitación y fluorescencia, temperaturas vibracionales de formación, variación de la intensidad LIF con el tiempo de retraso entre los láseres de disociación y prueba, etc.
Chen, Ruoqing; Regodón Wallin, Amanda; Sjölander, Arvid; Valdimarsdóttir, Unnur; Ye, Weimin; Tiemeier, Henning; Fall, Katja; Almqvist, Catarina; Czene, Kamila; Fang, Fang
A parental cancer diagnosis is psychologically straining for the whole family. We investigated whether a parental cancer diagnosis is associated with a higher-than-expected risk of injury among children by using a Swedish nationwide register-based cohort study. Compared to children without parental cancer, children with parental cancer had a higher rate of hospital contact for injury during the first year after parental cancer diagnosis (hazard ratio [HR] = 1.27, 95% confidence interval [CI] = 1.22-1.33), especially when the parent had a comorbid psychiatric disorder after cancer diagnosis (HR = 1.41, 95% CI = 1.08-1.85). The rate increment declined during the second and third year after parental cancer diagnosis (HR = 1.10, 95% CI = 1.07-1.14) and became null afterwards (HR = 1.01, 95% CI = 0.99-1.03). Children with parental cancer also had a higher rate of repeated injuries than the other children (HR = 1.13, 95% CI = 1.12-1.15). Given the high rate of injury among children in the general population, our findings may have important public health implications.
Thorpy, Michael J; Krieger, Ana C
Narcolepsy, a chronic neurologic condition resulting from dysregulation of the sleep-wake cycle, usually has an onset at an early age. However, a long delay until diagnosis has been consistently reported in the literature across countries and several publications have focused on characterizing this delay. Most studies report a mean delay to diagnosis of up to 15 years, with individual cases of >60 years, although a trend over time toward a shorter diagnostic delay has been suggested. While variables associated with this delay have been identified, a lack of symptom recognition resulting in misdiagnosis prior to reaching the narcolepsy diagnosis is the likely underlying reason. This lack of symptom recognition is especially relevant considering the high comorbidity burden that has been shown in patients with narcolepsy as some disorders manifest with symptoms that overlap with narcolepsy. A consequence of delayed diagnosis is delayed treatment, which affects the burden of disease. Substantial detrimental effects on health-care resource utilization, employment, and quality of life have been described after narcolepsy onset and prior to the diagnosis of narcolepsy. This review highlights the importance of closing the diagnostic gap by expanding awareness of narcolepsy and its symptoms.
Meyer, J. F.; Sundstrom, R. J.
A formal model for the study of on-line diagnosis is introduced and used to investigate the diagnosis of unrestricted faults. A fault of a system S is considered to be a transformation of S into another system S' at some time tau. The resulting faulty system is taken to be the system which looks like S up to time tau, and like S' thereafter. Notions of fault tolerance error are defined in terms of the resulting system being able to mimic some desired behavior as specified by a system similar to S. A notion of on-line diagnosis is formulated which involves an external detector and a maximum time delay within which every error caused by a fault in a prescribed set must be detected. It is shown that if a system is on-line diagnosable for the unrestricted set of faults then the detector is at least as complex, in terms of state set size, as the specification. The use of inverse systems for the diagnosis of unrestricted faults is considered. A partial characterization of those inverses which can be used for unrestricted fault diagnosis is obtained.
Li, Dong-Zhi; Yang, Yan-Dong
Thalassemia is the most common monogenic inherited disease worldwide, affecting individuals originating from many countries to various extents. As the disease requires long-term care, prevention of the homozygous state presents a substantial global disease burden. The comprehensively preventive programs involve carrier detections, molecular diagnostics, genetic counseling, and prenatal diagnosis. Invasive prenatal diagnosis refers to obtaining fetal material by chorionic villus sampling (CVS) at the first trimester, and by amniocentesis or cordocentesis at the second trimester. Molecular diagnosis, which includes multiple techniques that are aimed at the detection of mutations in the α- or β-globin genes, facilitates prenatal diagnosis and definitive diagnosis of the fetus. These are valuable procedures for couples at risk, so that they can be offered options to have healthy offspring. According to local practices and legislation, genetic counseling should accompany the invasive diagnostic procedures, DNA testing, and disclosure of the results. The most critical issue in any type of prenatal molecular testing is maternal cell contamination (MCC), especially when a fetus is found to inherit a particular mutation from the mother. The best practice is to perform MCC studies on all prenatal samples. The recent successful studies of fetal DNA in maternal plasma may allow future prenatal testing that is non-invasive for the fetus and result in significant reduction of invasive diagnostic procedures.
... SCHEDULE FOR RATING DISABILITIES Disability Ratings Mental Disorders § 4.125 Diagnosis of mental disorders. (a) If the diagnosis of a mental disorder does not conform to DSM-IV or is not supported by the... substantiate the diagnosis. (b) If the diagnosis of a mental disorder is changed, the rating agency...
... SCHEDULE FOR RATING DISABILITIES Disability Ratings Mental Disorders § 4.125 Diagnosis of mental disorders. (a) If the diagnosis of a mental disorder does not conform to DSM-IV or is not supported by the... substantiate the diagnosis. (b) If the diagnosis of a mental disorder is changed, the rating agency...
... SCHEDULE FOR RATING DISABILITIES Disability Ratings Mental Disorders § 4.125 Diagnosis of mental disorders. (a) If the diagnosis of a mental disorder does not conform to DSM-IV or is not supported by the... substantiate the diagnosis. (b) If the diagnosis of a mental disorder is changed, the rating agency...
Kishore, M. T.; Nizamie, A.; Nizamie, S. H.; Jahan, M.
This study examines the rate of psychiatric diagnosis as per ICD-10 and Reiss Screen for Maladaptive Behaviours (RSMB), and distribution of psychiatric diagnosis with regard to the severity of intellectual disability (ID). It also explores the degree of agreement between Reiss screen and clinical diagnosis (ICD-10) in relation to dual diagnosis. …
Guthrie, Whitney; Swineford, Lauren B.; Nottke, Charly; Wetherby, Amy M.
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…
The differential diagnosis of dissociative disorders includes many psychiatric disorders, such as schizophrenia, bipolar disorders (especially bipolar II disorder), depressive disorder (especially atypical depression), epilepsy, Asperger syndrome, and borderline personality disorder. The theme of this paper is the differential diagnosis between dissociative disorders and schizophrenia. Schneiderian first-rank symptoms in schizophrenia are common in dissociative disorders, especially in dissociative identity disorder (DID). Many DID patients have been misdiagnosed as schizophrenics and treated with neuroleptics. We compared and examined Schneiderian symptoms of schizophrenia and those of dissociative disorders from a structural viewpoint. In dissociative disorders, delusional perception and somatic passivity are not seen. "Lateness" and "Precedence of the Other" originated from the concept of "Pattern Reversal" (H. Yasunaga)" is characteristic of schizophrenia. It is important to check these basic structure of schizophrenia in subjective experiences in differential diagnosis between dissociative disorders and schizophrenia.
Diagnosis is often thought of as an isolated task in theoretical reasoning (reasoning with the goal of updating our beliefs about the world). We present a decision-theoretic interpretation of diagnosis as a task in practical reasoning (reasoning with the goal of acting in the world), and sketch components of our approach to this task. These components include an abstract problem description, a decision-theoretic model of the basic task, a set of inference methods suitable for evaluating the decision representation in real-time, and a control architecture to provide the needed continuing coordination between the agent and its environment. A principal contribution of this work is the representation and inference methods we have developed, which extend previously available probabilistic inference methods and narrow, somewhat, the gap between probabilistic and logical models of diagnosis.
Seydel, C; Zirke, N; Haupt, H; Szczepek, A; Olze, H; Mazurek, B
Tinnitus is a very complex phenomenon with various mechanisms of origin. Multimodal and interdisciplinary treatment is the most effective form of treatment for patients with chronic tinnitus. In order to assess existing comorbidity in tinnitus patients as well as to treat the patients individually, a comprehensive and differentiated diagnosis is needed. Since standardized guidelines for the use of relevant instruments in the diagnosis of tinnitus have been lacking hitherto, we present here psychometric questionnaires which have already been used effectively in the research, diagnosis and therapy of tinnitus in the present article. The questionnaires measure the severity of tinnitus, depression and anxiety, the perceived stress, personal resources as well as the quality of life of patients.
Bregon, Anibal; Daigle, Matthew John; Roychoudhury, Indranil; Biswas, Gautam; Koutsoukos, Xenofon; Pulido, Belarmino
Complex engineering systems require efficient fault diagnosis methodologies, but centralized approaches do not scale well, and this motivates the development of distributed solutions. This work presents an event-based approach for distributed diagnosis of abrupt parametric faults in continuous systems, by using the structural model decomposition capabilities provided by Possible Conflicts. We develop a distributed diagnosis algorithm that uses residuals computed by extending Possible Conflicts to build local event-based diagnosers based on global diagnosability analysis. The proposed approach is applied to a multitank system, and results demonstrate an improvement in the design of local diagnosers. Since local diagnosers use only a subset of the residuals, and use subsystem models to compute residuals (instead of the global system model), the local diagnosers are more efficient than previously developed distributed approaches.
Peng, Fei; Cao, Zhaohui; Ji, Xiaoyuan; Chu, Binbin; Su, Yuanyuan; He, Yao
The emergence of nanotechnology suggests new and exciting opportunities for early diagnosis and therapy of cancer. During the recent years, silicon-based nanomaterials featuring unique properties have received great attention, showing high promise for myriad biological and biomedical applications. In this review, we will particularly summarize latest representative achievements on the development of silicon nanostructures as a powerful platform for cancer early diagnosis and therapy. First, we introduce the silicon nanomaterial-based biosensors for detecting cancer markers (e.g., proteins, tumor-suppressor genes and telomerase activity, among others) with high sensitivity and selectivity under molecular level. Then, we summarize in vitro and in vivo applications of silicon nanostructures as efficient nanoagents for cancer therapy. Finally, we discuss the future perspective of silicon nanostructures for cancer diagnosis and therapy.
Leylabadlo, Hamed Ebrahimzadeh; Kafil, Hossein Samadi; Yousefi, Mehdi; Aghazadeh, Mohammad; Asgharzadeh, Mohammad
In recent years, in spite of medical advancement, tuberculosis (TB) remains a worldwide health problem. Although many laboratory methods have been developed to expedite the diagnosis of TB, delays in diagnosis remain a major problem in the clinical practice. Because of the slow growth rate of the causative agent Mycobacterium tuberculosis, isolation, identification, and drug susceptibility testing of this organism and other clinically important mycobacteria can take several weeks or longer. During the past several years, many methods have been developed for direct detection, species identification, and drug susceptibility testing of TB. A good understanding of the effectiveness and practical limitations of these methods is important to improve diagnosis. This review summarizes the currently-used advances in nonmolecular and molecular diagnostics.
Blaumeiser, Bettina; Loquet, Philip; Wuyts, Wim; Nöthen, Markus M
Pfeiffer syndrome is an autosomal dominant disorder characterized by coronal craniosynostosis, midface hypoplasia, broad thumbs and great toes. On the basis of clinical findings, three subtypes have been delineated. The clinical variability of Pfeiffer syndrome as well as other causes of craniosynostosis can make a prenatal diagnosis based on sonography alone difficult. We describe a fetus in whom sonographic findings (including 3D ultrasound) suggested a Pfeiffer syndrome type II and in which subsequent molecular analysis verified the diagnosis by identifying a de novo mutation in the FGFR2 gene. To the best of our knowledge, this is the first report of a prenatal molecular diagnosis of Pfeiffer syndrome in a patient without family history.
Bansal, Ramta; Jain, Aditya; Mittal, Sunandan
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
Al Dahouk, Sascha; Nöckler, Karsten
Brucellosis is a worldwide zoonosis with a huge economic impact on animal husbandry and public health. The diagnosis of human brucellosis can be protracted because the disease primarily presents as fever of unknown origin with unspecific clinical signs and symptoms. The isolation rate of the fastidious etiologic agent from blood cultures is low, and therefore laboratory diagnosis is mainly based on serologic and molecular testing. However, seronegative brucellosis patients have been described, and antibody titers of diagnostic significance are difficult to define. Whether the molecular detection of Brucella DNA in clinical samples should be followed by long-term antibiotic treatment or not is also a matter of debate. The aim of this article is to review and discuss the implications of laboratory test results in the diagnosis of human brucellosis on disease therapy.
Tathe, Shilpa P; Dani, Aarti A; Chawhan, Sanjay M; Meshram, Saroj A; Randale, Archana A; Raut, Waman K
The fungi in the order of Mucorales commonly target diabetics and other immunocompromised hosts, producing fatal respiratory and or CNS infections. Gastrointestinal mucormycosis is uncommon and seldom diagnosed in living patients due to nonspecific clinical manifestations. We report a case of gastric mucormycosis in an immmunocompetent male patient, diagnosed by imprint cytology-a rare site and a rare setting. To the best of our knowledge, this is only the second report of gastric mucormycosis being diagnosed on cytology. As the disease is rapidly progressive and often fatal, early diagnosis is critical to the patient survival. Imprint cytology or brush cytology is extremely useful for the rapid diagnosis of gastric mucormycosis as these organisms are morphologically distinct. Familiarity with the cytomorphology of these organisms assists in the correct diagnosis of this disease. Diagn. Cytopathol. 2016;44:820-822. © 2016 Wiley Periodicals, Inc.
Kruse, Lacey L
A 3-year-old girl presented with a linear eruption on her leg for 2 months. She was otherwise healthy and well-appearing. Physical examination showed many small, erythematous, flat-topped papules coalescing into a linear erythematous plaque. At a follow-up visit 9 months later, the eruption had resolved, leaving postinflammatory hypopigmentation.When approaching a cutaneous eruption, appreciating the pattern of the lesions can be instrumental to arriving at the correct diagnosis. For this patient with the acute onset of a plaque on the leg, the differential diagnosis is narrowed by the linear distribution of the skin lesions. The differential diagnosis of linear eruptions in children includes lichen striatus, linear lichen planus, linear psoriasis, inflammatory linear verrucous epidermal nevus, incontinentia pigmenti, phytophotodermatitis, and allergic contact dermatitis. Of note, many of these conditions manifest in a linear manner as a result of cutaneous mosaicism, whereas others are caused by external agents contacting the skin.
Gelman, L.; Gorpinich, S.; Thompson, C.
A generic adaptive approach is proposed for diagnosis of the bilinear mechanical systems. The approach adapts the free oscillation method for bilinearity diagnosis of mechanical systems. The expediency of the adaptation is proved for a recognition feature, the decrement of the free oscillations. The developed adaptation consists of variation of the adaptive likelihood ratio of the decrement with variation of the resonance frequency of the bilinear system. It is shown that in the cases of the frequency-independent and the frequency-dependent internal damping, the adaptation is expedient. To investigate effectiveness of the adaptation in these cases, a numerical simulation was carried out. The simulation results show that use of the adaptation increases the total probability of the correct diagnosis of system bilinearity.
Olesen, F; Hansen, R P; Vedsted, P
Background: Denmark has poorer 5-year survival rates than many other Western European countries, and cancer patients tend to have more advanced stages at diagnosis than those in other Scandinavian countries. Part of this may be due to delay in diagnosis. The aim of this paper is to give an overview of the initiatives currently underway to reduce delays. Methods: Description of Danish actions to reduce delay. Results: Results of surveys of patient-, doctor- and system-related delays are presented and so are the political initiatives to ensure that cancer is seen as an acute disease. Conclusion: In future, fast-track diagnosis and treatment will be provided for suspected cancers and access to general diagnostic investigations will be improved. A large national experiment with cancer seen as an acute disease is currently being implemented, and as yet the results are unknown. PMID:19956163
Kim, Sang Gyun; Kim, Jae Gyu; Shin, Sung Kwan; Kim, Hyun Soo; Seol, Sang Young
Peptic ulcer is one of the most prevalent diseases in gastrointestinal field. Recently, evolution was made for pathophysiology of peptic ulcer from "no acid, no ulcer" to Helicobacter pylori and non-steroidal anti-inflammatory drugs. The prevalence of peptic ulcer disease is estimated about 10% in Korea, and has declined due to Helicobacter pylori eradication therapy. Peptic ulcer has the cycle of exacerbation and improvement in the clinical course, and has not occasionally any clinical symptom. Helicobacter pylori eradication has made the marked reduction of relapse of peptic ulcer disease. Although nationwide endoscopic screening has enabled accurate diagnosis of peptic ulcer disease, general guideline for diagnosis of peptic ulcer has not made in Korea. Herein, we propose a guideline for the diagnosis of peptic ulcer according to domestic, international clinical studies, and experts opinions with level of evidence and grade of recommendation.
Lee, Sang Kun; Lee, Soon-Tae
Autoimmune encephalitis is a group of encephalitis syndromes that cause altered mentality, memory decline, or seizures in association with the presence of serum and cerebrospinal fluid (CSF) autoantibodies (auto-Abs). An early diagnosis enables early treatments. The detection of auto-Abs is a confirmatory diagnosis. Tissue-based assay, cell-based immunoassay, and immunoblotting are used to detect various autoantibodies. The CSF test for the presence of antibodies is important because it is more sensitive and reflects disease activity in many autoimmune encephalitis, although antibody tests can be negative even in the presence of autoimmune encephalitis. EEG is often abnormal, but nonspecific. A unilateral or bilateral medial temporal T2 high signal is a common finding in MRI. Fludeoxyglucose-positron emission tomography is sometimes useful for diagnosis in patients with normal MRI. PMID:28101474
Mentis, Andreas; Lehours, Philippe; Mégraud, Francis
During the period reviewed, prevalence studies were essentially performed in less economically advanced countries and a high prevalence was found. The traditional risk factors for Helicobacter pylori positivity were mostly found. Transmission studied by molecular typing showed a familial transmission. The eventual role of water transmission was explored in several studies with controversial results. Concerning diagnosis, most of the invasive and noninvasive methods used for the diagnosis of H. pylori infection are long standing with efficient performance. The most interesting recent improvements in H. pylori diagnosis include advances in endoscopy, developments in molecular methods, and the introduction of omics-based techniques. Interpretation of old or newer method should take into account the pretest probability and the prevalence of H. pylori in the population under investigation.
Zhang, Chen-Zi; Cheng, Xing-Qun; Li, Ji-Yao; Zhang, Ping; Yi, Ping; Xu, Xin; Zhou, Xue-Dong
Saliva is secreted from the salivary glands and has multiple functions, including mouth cleaning and protection, antibacterial effects and digestion. With the rapid advancement in salivaomics, saliva is well recognized as a pool of biological markers. Saliva, as a non-invasive and safe source, could be a substitute for blood in the diagnosis and prognosis of diseases. This review summarizes the latest advancements in saliva-related studies and addresses the potential value of saliva in the early diagnosis of oral diseases, such as dental caries and periodontal disease, as well as cancer, diabetes and other systemic disorders. Saliva biomarkers range from changes in the biochemical indices of DNA, RNA and proteins to the diversification of microbiota structures. This study integrates data reported in the recent literature and discusses the clinical significance and prospects for the application of saliva in the early diagnosis of diseases, translational medicine and precision medicine. PMID:27585820
Robles, María José; Cucurella, Eulàlia; Formiga, Francesc; Fort, Isabel; Rodríguez, Daniel; Barranco, Elena; Catena, Joan; Cubí, Dolors
Dementia is a syndrome characterized by a progressive deterioration of cognitive functions, accompanied by psychiatric symptoms and behavioral disturbances that produce a progressive and irreversible disability. The way it should communicate the diagnosis of dementia is a key discussion point on which there is no unanimous agreement so far. The communicating of the diagnosis of dementia is a complex issue that affects not only, the patient but also to caregivers and health professionals who care and must conform to the ethical principles governing medical practice (autonomy, nonmaleficence, beneficence, and justice). Therefore, from the Dementia Working Group of the Catalan Geriatric Society (Grupo de Trabajo de Demencia de la Sociedad Catalana de Geriatría) arises the need to review the issue and propose a course of action for the disclosure of diagnosis.
The endocarditis stays a dangerous illness. The positive microbiological diagnosis has a precious contribution for a successful hold in charge of the patient. To optimise the microbiological diagnosis of the endocarditis, essentially it comes back to respect the maximum rules of good practice of the blood cultures and the microbiological cardiac valve exams. During the last decades, techniques of molecular biology came to remedy insufficiencies of the conventional microbiology. We arrange rich microbiological data to guide the therapist while waiting the current microbiological data of the patient.
Fokstuen, Siv; Sloan-Béna, Frédérique; lrion, Olivier
Since ten years, the number of amniocenteses or chorionic villous sampling for maternal anxiety has decreased thanks to the first trimester screening of trisomy 21 by ultrasound and maternal serum analysis. Two new tools have recently revolutionized antenatal screening and diagnosis: Analysing fetal DNA in maternal blood for chromosomes 21, 18 and 13 in order to avoid invasive fetal sampling and genomic comparative hybridization in order to diagnose deletions or duplications not detected by conventional caryotyping. These new technologies are dedicated to high-risk pregnancies, and have limitations. They do not replace ultrasound or first trimester screening. Information and ethics are central in antenatal screening and diagnosis.
Remington, Roger; Palmer, Everett
Current expert system technology does not permit complete automatic fault diagnosis; significant levels of human intervention are still required. This requirement dictates a need for a division of labor that recognizes the strengths and weaknesses of both human and machine diagnostic skills. Relevant findings from the literature on human cognition are combined with the results of reviews of aircrew performance with highly automated systems to suggest how the interface of a fault diagnostic expert system can be designed to assist human operators in verifying machine diagnoses and guiding interactive fault diagnosis. It is argued that the needs of the human operator should play an important role in the design of the knowledge base.
Remington, Roger; Palmer, Everett
Current expert system technology does not permit complete automatic fault diagnosis; significant levels of human intervention are still required. This requirement dictates a need for a division of labor that recognizes the strengths and weaknesses of both human and machine diagnostic skills. Relevant findings from the literature on human cognition are combined with the results of reviews of aircrew performance with highly automated systems to suggest how the interface of a fault diagnostic expert system can be designed to assist human operators in verifying machine diagnoses and guiding interactive fault diagnosis. It is argued that the needs of the human operator should play an important role in the design of the knowledge base.
Bouatou, Yassine; Paoloni-Giacobino, Ariane; Parvex, Paloma; De Seigneux, Sophie
Suspected renal inherited disorders are regularly evaluated in nephrology consultations both in adults and children. A positive family history and/or a typical phenotype should lead to genetic investigations. A confirmatory diagnosis integrated in a multidisciplinary genetic counseling approach gives patient guidance for further pregnancy. It also allows physician to better stratify disease risk and indicates treatment in some cases. The time to diagnosis and costs have been dramatically reduced thanks to next generation sequencing in several cases of complex inherited nephrologic syndromes.
Nick, Jerry A; Nichols, David P
The diagnosis of cystic fibrosis (CF) is being made with increasing frequency in adults. Patients with CF diagnosed in adulthood typically present with respiratory complaints, and often have recurrent or chronic airway infection. At the time of initial presentation individuals may appear to have clinical manifestation limited to a single organ, but with subclinical involvement of the respiratory tract. Adult-diagnosed patients have a good response to CF center care, and newly available cystic fibrosis transmembrane receptor-modulating therapies are promising for the treatment of residual function mutation, thus increasing the importance of the diagnosis in adults with unexplained bronchiectasis.
Lee, Han S; Tihan, Tarik
Intraoperative pathologic consultation continues to be an essential tool during neurosurgical procedures, helping to ensure adequacy of material for achieving a pathologic diagnosis and to guide surgeons. For pathologists, successful consultation with central nervous system lesions involves not only a basic familiarity with the pathologic features of such lesions but also an understanding of their clinical and radiologic context. This review discusses a basic approach to intraoperative diagnosis for practicing pathologists, including preparation for, performance of, and interpretation of an intraoperative neuropathologic evaluation. The cytologic and frozen section features of select examples of common pathologic entities are described.
Olek-Hrab, Karolina; Ruckemann-Dziurdzińska, Katarzyna
Primary cutaneous lymphomas (CLs) are a heterogeneous group of lymphoproliferative neoplasms, with lymphatic proliferation limited to the skin with no involvement of lymph nodes, bone marrow or viscera at the diagnosis. Cutaneous lymphomas originate from mature T-lymphocytes (65% of all cases), mature B-lymphocytes (25%) or NK cells. Histopathological evaluation including immunophenotyping of the skin biopsy specimen is the basis of the diagnosis, which must be complemented with a precise staging of the disease and identification of prognostic factors, to allow for the choice of the best treatment method as well as for the evaluation of the treatment results. PMID:26759546
Cunningham, Priscilla; Noble, Helen; Al-Modhefer, Abdul-Kadhum; Walsh, Ian
The prevalence of kidney stones is increasing, and approximately 12 000 hospital admissions every year are due to this condition. This article will use a case study to focus on a patient diagnosed with a calcium oxalate kidney stone. It will discuss the affected structures in relation to kidney stones and describe the pathology of the condition. Investigations for kidney stones, differential diagnosis and diagnosis, possible complications and prognosis, will be discussed. Finally, a detailed account of management strategies for the patient with kidney stones will be given, looking at pain management, medical procedures and dietary interventions.
Illán, I. A.; Górriz, J. M.; Ramírez, J.; Salas-Gonzalez, D.; López, M.; Padilla, P.; Chaves, R.; Segovia, F.; Puntonet, C. G.
Alzheimer's disease (AD) is a progressive neurodegenerative disorder first affecting memory functions and then gradually affecting all cognitive functions with behavioral impairments and eventually causing death. Functional brain imaging as Single-Photon Emission Computed Tomography (SPECT) is commonly used to guide the clinician's diagnosis. The essential left-right symmetry of human brains is shown to play a key role in coding and recognition. In the present work we explore the implications of this symmetry in AD diagnosis, showing that recognition may be enhanced when considering this latent symmetry.
Nafeyev, A A; Savinova, G A; Rechnik, V N; Voloshina, O A; Vinogradova, I B
The paper describes 3 cases of ornithosis that could be detected by clinical and laboratory studies using immunological assays. In one case, its diagnosis was made late when the infection occurred in a woman working in a travel agency in Cyprus. The two other cases having an occupational contact (pet shop workers) were observed to have its acute form. All the described cases showed lung involvement characterized by external respiratory failure, one of the most common manifestations of ornithosis (psittacosis). Among the practically used laboratory tests, the indirect hemagglutination reaction is an accessible and effective serological assay for the diagnosis of ornithosis.
Arvikar, Sheila L; Steere, Allen C
In the United States, Lyme arthritis is the most common feature of late-stage Borrelia burgdorferi infection, usually beginning months after the initial bite. In some, earlier phases are asymptomatic and arthritis is the presenting manifestation. Patients with Lyme arthritis have intermittent or persistent attacks of joint swelling and pain in 1 or a few large joints. Serologic testing is the mainstay of diagnosis. Synovial fluid polymerase chain reaction for B burgdorferi DNA is often positive before treatment, but is not a reliable marker of spirochetal eradication after therapy. This article reviews the clinical manifestations, diagnosis, and management of Lyme arthritis.
Braquehais, María Dolores; Lusilla, Pilar; Bel, Miquel Jordi; Navarro, María Cecilia; Nasillo, Viviana; Díaz, Albert; Valero, Sergi; Padrós, Jaume; Bruguera, Eugeni; Casas, Miquel
Co-occurrence of mental disorders and substance use disorders (dual diagnosis) among doctors is a cause of serious concern due to its negative personal, professional, and social consequences. This work provides an overview of the prevalence of dual diagnosis among physicians, suggests a clinical etiological model to explain the development of dual diagnosis in doctors, and recommends some treatment strategies specifically for doctors. The most common presentation of dual diagnosis among doctors is the combination of alcohol use disorders and affective disorders. There are also high rates of self-medication with benzodiazepines, legal opiates, and amphetamines compared to the general population, and cannabis use disorders are increasing, mainly in young doctors. The prevalence of nicotine dependence varies from one country to another depending on the nature of public health policies. Emergency medicine physicians, psychiatrists, and anaesthesiologists are at higher risk for developing a substance use disorder compared with other doctors, perhaps because of their knowledge of and access to certain legal drugs. Two main pathways may lead doctors toward dual diagnosis: (a) the use of substances (often alcohol or self-prescribed drugs) as an unhealthy strategy to cope with their emotional or mental distress and (b) the use of substances for recreational or other purposes. In both cases, doctors tend to delay seeking help once a problem has been established, often for many years. Denial, minimization, and rationalization are common defense mechanisms, maybe because of the social stigma associated with mental or substance use disorders, the risk of losing employment/medical license, and a professional culture of perfectionism and denial of emotional needs or failures. Personal vulnerability interacts with these factors to increase the risk of a dual diagnosis developing in some individuals. When doctors with substance use disorders accept treatment in programs
Ise, Elena; Schulte-Körne, Gerd
Children with dyscalculia show deficits in basic numerical processing which cause difficulties in the acquisition of mathematical skills. This article provides an overview of current research findings regarding the symptoms, cause, and prognosis of dyscalculia, and it summarizes recent developments in the diagnosis, early intervention, and treatment thereof. Diagnosis has improved recently because newly developed tests focus not only on the math curriculum, but also on basic skills found to be impaired in dyscalculia. A controversial debate continues with regard to IQ achievement discrepancy. International studies have demonstrated the effectiveness of specialized interventions. This article summarizes the research findings from intervention studies, describes different treatment approaches, and discusses implications for clinical practice.
Kishore, Manjari; Preeti; Deepak, Desh
Pulmonary Hamartomas (PH) are benign tumour-like lesions of lung with an uncommon occurrence and pose a diagnostic challenge on chest radiograph. Fine Needle Aspiration Cytology (FNAC) can lead to a definitive diagnosis as well as distinguishes these from malignant lung mass. Most of the patients are asymptomatic and incidentally detected on routine chest radiographs. We report a case of pulmonary hamartoma where the patient was symptomatic and a possibility of malignant neoplasm was considered until the FNAC concluded the diagnosis. PMID:28050379
Erdei, Annamária; Steiber, Zita; Gazdag, Annamária; Bodor, Miklós; Berta, Eszter; Szász, Róbert; Szántó, Antónia; Ujhelyi, Bernadett; Barna, Sándor; Berényi, Ervin; Nagy, V Endre
Graves' orbitopathy is the extrathyroidal manifestation of Graves' disease, which is the most common cause of exophthalmos. As eye symptoms usually coincide with the development of thyrotoxicosis, the diagnosis of the disease is rarely difficult. The aim of the authors was to summarize the differential diagnosis of Graves' orbitopathy based on literature review and presentation of their own four problematic cases on this topic. They conclude that symptoms similar to endocrine orbitopathy are present in other disorders. Endocrinologists need to be aware of these other conditions to avoid treatment failures.
Zhang, Kuo; Lin, Guigao; Han, Yanxi; Li, Jinming
Humans can be infected by the intracellular parasite Toxoplasma gondii, which causes toxoplasmosis, a common parasitic disease. Although the infection is generally asymptomatic for most adults, severe complications may occur in some individuals, especially women in early pregnancy. Serologic diagnosis is used as a routine practice to determine the immune status for infection by T. gondii. In this review, we attempt to provide an overview of the serological diagnosis of toxoplasmosis, including diagnostic strategy, current problems in detection with specific antibodies, and the standardization of T. gondii serological detection.
Napolitano, Maddalena; Caso, Francesco; Scarpa, Raffaele; Megna, Matteo; Patrì, Angela; Balato, Nicola; Costa, Luisa
Psoriasis frequency ranges from 1 to 3 % in white population, and arthritis occurs in 10-40 % of psoriasis patients, representing a relevant health issue. Psoriatic arthritis (PsA) is an inflammatory arthropathy, associated with psoriasis, in which ocular-, intestinal-, metabolic-, and cardiovascular-related manifestations can variably coexist. In order to favor early PsA and psoriasis diagnosis, it is crucial to rule out other conditions that can resemble the disease and delay appropriate therapeutic approach. Therefore, the aim of this review is to focus on PsA and psoriasis differential diagnosis.
Gremion, G; Zufferey, P
Tendinopathy is one of the most common diagnosis in sports. Knowledges about their etiology, the repair process to their diagnosis and their treatment have improved thanks to the development of imaging, especially ultra- sound. The disorder whose etiology could be mechanical or degenerative can cause long- term disability and sometimes the end of the sport carreer. The risk of reccurence is com- mon; this may lead to tendon rupture whose functional effects can be significative. The management should be early: it must respect the deadlines for tendon healing and pro- pose a gradual recovery efforts after elimina tion of the contributing factors involved.
Sanfilippo, Andrea; Bartoletti, Stefano
We report on a child with the brachytelephalangic type of chondrodysplasia punctata, a very rare form of the disease. At birth, the patient was originally diagnosed with the Conradi-Hunermann type, a more common and severe type. A pediatric radiologist questioned the diagnosis and followed up with the patient, who is now three years old. Based on the clinical and radiographic findings, it was concluded that he had the brachytelephalangic type. This unique case demonstrates the necessity of communication among all health care personnel taking care of the patient. The diagnosis greatly affected the child's future and education.
This Memorandum reviews (1) the diagnostic requirements for malaria control within the primary health care system; (2) the current methods of malaria diagnosis used both in the clinic and in epidemiological studies; (3) the status of research on alternative methods to microscopy for the diagnosis of malaria; and (4) the application of new diagnostic methods in individual cases, in the community, and in the mosquito and their possible integration into existing epidemiological studies and control programmes. It also identifies priorities for the development and validation of new and reliable diagnostic techniques, and makes recommendations for the improvement, standardization, and utilization of current methodology. PMID:3061674
Mattar, Salim; Guzmán, Camilo; Figueiredo, Luis Tadeu
Rodent-borne hantaviruses (family Bunyaviridae, genus Hantavirus) cause hantavirus pulmonary syndrome in the Americas and hemorrhagic fever with renal syndrome in Europe and Asia. The viruses are transmitted to humans mainly by inhalation of virus-contaminated aerosols of rodent excreta and secreta. Classic clinical hemorrhagic fever with renal syndrome occurs in five phases: fever, hypotension, oliguria, polyuria, and convalescence. Hantavirus pulmonary syndrome is a severe acute disease that is associated with respiratory failure, pulmonary edema and cardiogenic shock. The diagnosis of hantavirus infections in humans is based on clinical and epidemiological information as well as laboratory tests. We review diagnosis for hantavirus infections based on serology, PCR, immunochemistry and virus culture.
The investigators had previously shown that the risk of AIDS/HIV-related illness and transmission reduced (by 96%) with early antiretroviral treatment. Nanomaterials could be applied in early diagnosis of HIV by improving the ability to detect serum biomarkers of the blood-borne infectious diseases, with low sample volume, rapidity, and more sensitivity than currently available FDA-approved methods such as ELISA, particle agglutination assay, and Western Blotting assay. We have demonstrated several experimental studies for optical HIV diagnosis based on nanomaterials in three categories (e.g., the fluorescence-, the SPR-, and the SERS- based biosensors), and have explained each assay.
Eigenmann, Philippe A
Primary care physicians will conduct allergy diagnosis based on the history provided by the patient. In case of a possible IgE type allergy, investigations will be made by skin tests or measurement of specific IgE antibodies in the serum. Interpretation of positive tests will have to consider possible sensitizations in absence of allergic symptoms that should not lead to inadequate therapeutic measures or diet. This review will provide to primary care physicians guidance to choose the best method in the appropriate situations for allergy diagnosis.
Gupta, V.; Puig, V.; Blesa, J.
In this paper, a methodology for distributed fault diagnosis is proposed. The algorithm places the sensors in a system in such a manner that the partition of a system into various subsystems becomes easier facilitating the implementation of a distributed fault diagnosis system. This algorithm also reduces or minimized the number of sensors to be used or install thus reducing overall cost. Binary integer linear programming is used for optimization in this algorithm. Real case study of Barcelona water network has been used to demonstrate and validate the proposed algorithm.
Lenhard, Bernhard H
Perianal dermatitis is one of the most common proctological disorders. The anatomy of the anal region provides suitable conditions for the development of dermatitis. In the diagnostic work-up and the management of patients with perianal dermatitis, three types need to be distinguished: irritant contact dermatitis, atopic dermatitis, and allergic contact dermatitis. Each type has its aetiological and pathogenetic factors, which will provide clues to the diagnosis and subsequent management of the condition. In the differential diagnosis of the condition, consideration should be given to inflammatory diseases of the perianal region which may produce eczema-like patterns.
Qian, Suxiang; Jiao, Weidong; Lou, Yongjian; Shen, Xiaomei
CORBA (Common Object Request Broker Architecture) is a solution to distributed computing methods over heterogeneity systems, which establishes a communication protocol between distributed objects. It takes great emphasis on realizing the interoperation between distributed objects. However, only after developing some application approaches and some practical technology in monitoring and diagnosis, can the customers share the monitoring and diagnosis information, so that the purpose of realizing remote multi-expert cooperation diagnosis online can be achieved. This paper aims at building an open fault monitoring and diagnosis platform combining CORBA, Web and agent. Heterogeneity diagnosis object interoperate in independent thread through the CORBA (soft-bus), realizing sharing resource and multi-expert cooperation diagnosis online, solving the disadvantage such as lack of diagnosis knowledge, oneness of diagnosis technique and imperfectness of analysis function, so that more complicated and further diagnosis can be carried on. Take high-speed centrifugal air compressor set for example, we demonstrate a distributed diagnosis based on CORBA. It proves that we can find out more efficient approaches to settle the problems such as real-time monitoring and diagnosis on the net and the break-up of complicated tasks, inosculating CORBA, Web technique and agent frame model to carry on complemental research. In this system, Multi-diagnosis Intelligent Agent helps improve diagnosis efficiency. Besides, this system offers an open circumstances, which is easy for the diagnosis objects to upgrade and for new diagnosis server objects to join in.
Vaujois, Laurence; van Doesburg, Nicolaas; Raboisson, Marie-Josée
Uhl's anomaly is an evolutive disease leading to terminal right ventricular failure. The most difficult differential diagnosis at presentation is the Ebstein disease. We describe the evolution of a foetus with Uhl's anomaly from 21 to 30 weeks of gestation, with progressive reduction in the right ventricular anterior myocardium suggestive of apoptosis, leading to foetal demise.
This paper gives brief information about photodynamic method used in diagnosis and therapy for cancer and other human body disorders. In particular it concentrates on detection and analysis of fluorescent dye, i.e. protoporphyrin IX (PpIX) and its two-photon excitation (TPE) process, which offers photodynamic method many fascinating possibilities.
Zhao, Feng; Koutsoukos, Xenofon; Haussecker, Horst; Reich, Jim; Cheung, Patrick
Many networked embedded sensing and control systems can be modeled as hybrid systems with interacting continuous and discrete dynamics. These systems present significant challenges for monitoring and diagnosis. Many existing model-based approaches focus on diagnostic reasoning assuming appropriate fault signatures have been generated. However, an important missing piece is the integration of model-based techniques with the acquisition and processing of sensor signals and the modeling of faults to support diagnostic reasoning. This paper addresses key modeling and computational problems at the interface between model-based diagnosis techniques and signature analysis to enable the efficient detection and isolation of incipient and abrupt faults in hybrid systems. A hybrid automata model that parameterizes abrupt and incipient faults is introduced. Based on this model, an approach for diagnoser design is presented. The paper also develops a novel mode estimation algorithm that uses model-based prediction to focus distributed processing signal algorithms. Finally, the paper describes a diagnostic system architecture that integrates the modeling, prediction, and diagnosis components. The implemented architecture is applied to fault diagnosis of a complex electro-mechanical machine, the Xerox DC265 printer, and the experimental results presented validate the approach. A number of design trade-offs that were made to support implementation of the algorithms for online applications are also described.
Velebit, V.; Christenson, J. T.; Simonet, F.; Maurice, J.; Schmuziger, M.; Hauser, H.; Didier, D.
A pulmonary artery sarcoma was diagnosed preoperatively by magnetic resonance imaging enhanced with gadolinium and confirmed by percutaneous computed tomographic guided needle biopsy. Accurate preoperative diagnosis allowed planned curative surgery with removal of the right ventricular outflow tract and reconstructive surgery using a cryopreserved homograft. Images PMID:8539663
Doern, Christopher D; Richardson, Susan E
Urinary tract infections (UTIs) are a common occurrence in children. The management and laboratory diagnosis of these infections pose unique challenges that are not encountered in adults. Important factors, such as specimen collection, urinalysis interpretation, culture thresholds, and antimicrobial susceptibility testing, require special consideration in children and will be discussed in detail in the following review.
Stillman, Paula L.; And Others
An inexpensive videotape testing system has been developed at the Department of Pediatrics and Department of Medical TV-Cinematography at the University of Arizona College of Medicine. The development and validation of a test using this system to assess observational skills important for accurate physical diagnosis are described. (LBH)
Urinary tract infections (UTIs) are a common occurrence in children. The management and laboratory diagnosis of these infections pose unique challenges that are not encountered in adults. Important factors, such as specimen collection, urinalysis interpretation, culture thresholds, and antimicrobial susceptibility testing, require special consideration in children and will be discussed in detail in the following review. PMID:27053673
Nickel, J. C.
OBJECTIVE: To review current knowledge about the epidemiology, etiology, diagnosis, and treatment of interstitial cystitis, with special emphasis on management of this condition by family physicians. QUALITY OF EVIDENCE: Articles were identified through MEDLINE and review of abstracts presented at Urology and Interstitial Cystitis meetings during the last decade. Recent reviews were further searched for additional studies and trials. Data were summarized from large epidemiologic studies. Etiologic theories were extracted from current concepts and reviews of scientific studies. Diagnostic criteria described in this review are based on clinical interpretation of National Institutes of Health (NIH) research guidelines, interpretation of data from the NIH Interstitial Cystitis Cohort Study, and recent evidence on use of the potassium sensitivity test. Treatment suggestions are based on six randomized placebo-controlled clinical treatment trials and best available clinical data. MAIN MESSAGE: Interstitial cystitis affects about 0.01% to 0.5% of women. Its etiology is unknown, but might involve microbiologic, immunologic, mucosal, neurogenic, and other yet undefined agents. The diagnosis of interstitial cystitis is a diagnosis of exclusion. It is impossible to provide a purely evidence-based treatment strategy, but review of available evidence suggests that conservative supportive therapy (including diet modification); oral treatment with pentosan polysulfate, amitriptyline, or hydroxyzine; and intravesical treatments with heparinlike medications, dimethyl sulfoxide, or BCG vaccine could benefit some patients. CONCLUSION: Family physicians should have an understanding of interstitial cystitis and be able to make a diagnosis and formulate an evidence-based treatment strategy for their patients. PMID:11153410
Mahlknecht, P; Schocke, M; Seppi, K
The differential diagnosis of parkinsonian syndromes is considered one of the most challenging in clinical neurology. Despite published consensus operational criteria for the diagnosis of Parkinson's disease (PD) and the various atypical parkinsonian disorders (APD), such as progressive supranuclear palsy (PSP), multiple system atrophy (MSA) and corticobasal degeneration (CBD), the clinical separation of APDs from PD carries a high rate of misdiagnosis. However, the early differentiation between APD and PD, each characterized by a very different natural history, is crucial for determining the prognosis and choosing a treatment strategy. Despite limitations the various modern magnetic resonance imaging (MRI) techniques have undoubtedly added to the differential diagnosis of neurodegenerative parkinsonism. In clinical practice conventional MRI with visual assessment of T2 and T1-weighted imaging is a well established method for the exclusion of symptomatic parkinsonism due to other pathologies and may also point to the diagnosis of APD. Furthermore, advances in MRI techniques, such as diffusion-weighted imaging (DWI), have enabled abnormalities in the basal ganglia and infratentorial brain structures in APD to be quantitatively illustrated.
McBride, James A; Carson, Culley C; Coward, Robert M
Testosterone supplementation therapy (TST) use has dramatically increased over the past decade, due to the availability of newer agents, aggressive marketing, and an increasing incidence of testosterone deficiency (TD). Despite the increase in TST, a degree of ambiguity remains as to the exact diagnostic criteria of TD, and administration and monitoring of TST. One explanation for this phenomenon is the complex role testosterone plays in multiple physiologic pathways. Numerous medical co-morbidities and medications can alter testosterone levels resulting in a wide range of nonspecific clinical signs and symptoms of TD. The diagnosis is also challenging due to the lack of a definitive serum total testosterone level that reliably correlates with symptoms. This observation is particularly true in the aging male and is exacerbated by inconsistencies between different laboratory assays. Several prominent medical societies have developed guideline statements to clarify the diagnosis, but they differ from each other and with expert opinion in several ways. Aside from diagnostic dilemmas, there are numerous subtle advantages and disadvantages of the various testosterone agents to appreciate. The available TST agents have changed significantly over the past decade similar to the trends in the diagnosis of TD. Therefore, as the usage of TST increases, clinicians will be challenged to maintain an up-to-date understanding of TD and TST. The purpose of this review is to provide a clear description of the current strategies for diagnosis and management of TD.
Fazekas, Csaba; Vörös, Tibor; Keresztényi, Zoltán; Kozmann, György; Laczkó, József
We develop a diagnostic tool to support the objective diagnosis of Parkinsonians. We suggest a cost and time efficient diagnostic tool: patients may complete exercises using a personal computer at home and the data is gathered for further studies via Internet in a central database.
Wilkinson, Great Buyck; Taylor, Priscilla; Holt, Jan R.
Due to developmental issues and overlapping symptoms with other disorders, diagnosing bipolar disorder in adolescents is often a confusing and complex process. This article highlights diagnostic criteria, symptoms and behaviors, and the differential diagnosis process. Treatment options are also discussed. (Contains 17 references.) (GCP)
Morton's neuroma is a benign foot condition that occurs more often in women than men, and particularly in those who wear narrow, high-heeled shoes. This article presents a case study of the condition, discusses its symptoms and diagnosis, and provides information about the range of treatments on offer.
Liu, Ying; Douglas, Jeffrey A.; Henson, Robert A.
In cognitive diagnosis, the test-taking behavior of some examinees may be idiosyncratic so that their test scores may not reflect their true cognitive abilities as much as that of more typical examinees. Statistical tests are developed to recognize the following: (a) nonmasters of the required attributes who correctly answer the item (spuriously…
Gallbladder cancer (GBC) is a rather uncommon disease, but at the time when it gives symptoms it has usually reached no longer curable stage. Therefore, all attempts must be made to make the diagnosis earlier to have better opportunity for cure. The author searched PubMed, and reviewed literatures on diagnoses and treatment of GBC. PMID:22866265
Sahn, Steven A.
The presence of pleural effusion enables a physician to obtain a specimen of a body cavity fluid easily. With a systematic analysis of the pleural fluid, in conjunction with the clinical features and ancillary laboratory data, a clinician should be able to arrive at either a presumptive or definitive diagnosis in approximately 90 percent of cases. Selectivity should be exercised in ordering analyses on pleural fluid. The first important deductive step is to decide whether the effusion is a transudate (due to imbalances in hydrostatic or oncotic pressures) or an exudate (inflammatory); serum protein and lactate dehydrogenase measurements will be decisive. The differential diagnosis of a transudate is relatively limited and usually easily discernible from the clinical presentation. The differential diagnosis of exudate poses a more difficult challenge for clinicians. The use of certain pleural fluid tests such as leukocyte count and differential, glucose, pH and, when indicated, pleural fluid amylase determinations, helps to narrow the differential diagnosis of an exudative pleural effusion. PMID:6182697
Kramer, Kay F., Ed.; Rosonke, Richard, Ed.
Eight papers on the diagnosis and treatment of handicapped children comprise proceedings of a conference for Directors of Special Education, past and present Regional Resource Center Directors, and the staff of the Bureau of Education for the Handicapped. E. Martin explains the rationale of Regional Resource Centers. A systems analysis of the…
Fuqua, Dale R.; Hartman, Bruce W.
Discusses the need for a better diagnostic approach to career indecision. Suggests a model for differential diagnosis and treatment containing three career indecision types or perspectives, i.e., developmental tasks, acute situational reactions, and chronic psychological concerns. Discusses problems of diagnostic measurement. (WAS)
Gamba, J.L.; Silverman, P.M.; Ling, D.; Dunnick, N.R.; Korobkin, M.
The CT findings of two cases of primary lymphedema of the lower extremities are presented. CT showed a coarse, nonenhancing, reticular pattern in an enlarged subcutaneous compartment. CT excluded the diagnosis of secondary lymphedema from an obstructing mass by demonstrating a normal retroperitoneum and pelvis. The CT findings are correlated with pedal lymphangiograms.
Farias, Mariela Granero
Among the red cell membrane disorders, hereditary spherocytosis (HS) is one of the most common causes of inherited hemolytic anemia. HS results from the deficiency or dysfunction of red blood cell membrane proteins, such as α spectrin, β spectrin, ankyrin, anion channel protein (Band-3 protein), protein 4.1 and protein 4.2. Conventionally, HS diagnosis is established through a series of tests, which include spherocytes identification in peripheral smear, reticulocyte count, osmotic fragility, etc. Currently, different hematological analyzers provide erythrocyte indicators that estimate the presence of spherocytes and correlate that with HS, which can be useful for disease screening. The most traditional method is the osmotic fragility (OF) test, which is labor-intensive and time-consuming to perform and presents low sensitivity and specificity values. Thus, new methods have been developed for HS diagnosis, such as flow cytometry. Current guidelines recommend the use of flow cytometry as a screening test for HS diagnosis using the eosin-5'-maleimide (EMA) binding test. Thus, HS diagnosis is the result of a collaboration between clinicians and laboratories, who should take into account the family history and the exclusion of other causes of secondary spherocytosis.
Gupta, Anju; Ramanan, A V
Uveitis is a term used to describe inflammation of uvea, which is the middle layer of eye. It is an important cause of blindness in children in both developed and developing countries. Delayed diagnosis, inadequate treatment and risk of amblyopia are some of the factors that are unique to childhood uveitis and are responsible for significant morbidity seen with this disease.
Kress, Victoria E. White
Article examines the diagnosis and assessment of self-injurious behaviors. A classification model for conceptualizing self-injury is discussed, and the "Diagnostic and Statistical Manual of Mental Disorders" diagnoses associated with self-injury are addressed. Assessment questions and issues to consider when assessing clients who…
Grigoruk, O G; Bazulina, L M; Lazarev, A F
Data are presented on a cytological examination of 2948 patients with pleuritis carried out during 7 years. Routine methods alongside centrifuging, cytological material staining, immunocytochemical and morphometric procedures were used. Each stage of the investigation was evaluated. Thanks to use of complex procedures, sensitivity of cytological methods for pleuritis diagnosis was raised to 95.2%, specificity--to 100%.
Many parents of gifted, talented and high-ability children seek counseling in the belief that a "diagnosis" of their child as "gifted" will solve the problems they and their child are encountering. In Israel, most children are screened for giftedness using the Szold examinations in grade 2 or 3 between the ages of 7 and 9…
Bannon, Kimberly; Fernandez, Carlos; Rojas, David; Levine, Elliot M; Locher, Stephen
Intramural pregnancy, a gestation completely surrounded by the myometrium located within the uterine wall with separation from the uterine cavity, is an extremely unusual form of pregnancy. Complications resulting from intramural pregnancy include inevitable uterine rupture with resultant hemorrhage and possible hysterectomy if diagnosis is not made early and treatment is not initiated. An asymptomatic patient was initially diagnosed with a missed abortion at approximately 6 weeks of gestation after a routine ultrasound. Suction curettage was performed approximately 1 month after the initial diagnosis. The pathology specimen failed to reveal placental villi. Ultimately, the diagnosis of intramural pregnancy was made via ultrasound and a computed tomography scan. She was treated with a single dose of systemically administered methotrexate. Over a period of 4 months, β-human chorionic gonadotropin levels trended downward; however, the intramural pregnancy failed to resolve completely, and a persistent mass remained. The intramural pregnancy was removed using the da Vinci laparoscopic procedure (Intuitive Surgical, Sunnyvale, CA). If the diagnosis of intramural ectopic pregnancy is made sufficiently early, conservative measures can be taken, which can preserve a patient's future fertility.
Morvay, Zita; Nagy, Endre
A case of varicocele is reported. The dilated veins were situated in the left testis. The diagnosis required color Doppler sonography. Successful treatment was performed by transcatheter embolization of the left spermatic vein. The control sonogram revealed complete regression. A literature search yielded only three previous cases of intratesticular varicocele. No data were found on the treatment of this entity.
Barnes, R C
Chlamydia trachomatis is a human pathogen that causes ocular disease (trachoma and inclusion conjunctivitis), genital disease (cervicitis, urethritis, salpingitis, and lymphogranuloma venereum), and respiratory disease (infant pneumonitis). Respiratory chlamydioses also occur with infection by avian strains of C. psittaci or infection by the newly described TWAR agent. Diagnosis of most acute C. trachomatis infections relies on detection of the infecting agent by cell culture, fluorescent antibody, immunoassay, cytopathologic, or nucleic acid hybridization methods. Individual non-culture tests for C. trachomatis are less sensitive and specific than the best chlamydial cell culture system but offer the advantages of reduced technology and simple transport of clinical specimens. Currently available nonculture tests for C. trachomatis perform adequately as screening tests in populations in which the prevalence of infection is greater than 10%. A negative culture or nonculture test for C. trachomatis does not, however, exclude infection. The predictive value of a positive nonculture test may be unsatisfactory when populations of low infection prevalence are tested. Tests that detect antibody responses to chlamydial infection have limited utility in diagnosis of acute chlamydial infection because of the high prevalence of persistent antibody in healthy adults and the cross-reactivity due to infection by the highly prevalent C. trachomatis and TWAR agents. Assays for changes in antibody titer to the chlamydial genus antigen are used for the diagnosis of respiratory chlamydioses. A single serum sample that is negative for chlamydial antibody excludes the diagnosis of lymphogranuloma venereum. PMID:2650858
Hague, Cameron; Bicknell, Simon
Very little has been published about single-organ vasculitis of the testicle in the radiological literature. Consequently, it is a diagnosis that is unfamiliar to most radiologists. This case report describes the sonographic, pathologic, and laboratory findings of testicular vasculitis and reviews the available literature with regard to this subject. PMID:28246567
Vital, Anne; Vital, Claude
One characteristic histological lesion on biopsy specimens is mandatory to establish the diagnosis of vasculitis. Combined nerve and muscle biopsies, by the same cutaneous incision, improve significantly the percentage of positive results. Nerve fragments should be taken in every patient presenting sensory manifestations. Such vasculitic lesions are present in medium-sized arterioles and/or small vessels, and correspond mainly to 4 necrotizing vasculitis: panarteritis nodosa (PAN), microscopic polyangiitis (MPA), Churg and Strauss syndrome and Wegener granulomatosis. Microvasculitis should be added to these classical entities, because it corresponds to small vessel wall infiltration by inflammatory cells, as observed in PAN and MPA, but without any necrosis. Microvasculitis has to be differentiated from the inflammatory cell infiltrates surrounding small vessels. However, such perivascular inflammatory cell infiltrates enable the diagnosis of probable vasculitis when associated with clusters of neo-vessels, hemosiderin deposits, or a focal damage of nerve fibers. Grossly, one third of vasculitis diagnosis is confirmed on muscle fragments, a second third on nerve fragments, and the last third on both nerve and muscle fragments. Moreover, in the search for vasculitis, an unpredicted diagnosis of lymphoma or amyloidosis is occasionally established on the neuro-muscular biopsy.
Sacks, Stephen L.
This article offers some background information on diagnosis and treatment of three major causes of genital ulcers: syphilis, herpes simplex virus (HSV), and chancroid. The author also discusses differential diagnoses and suggests an approach to treatment. ImagesFigure 1Figure 2Figure 3Figure 4Figure 6Figure 7 PMID:21263799
Goals of the dual diagnosis movement in the U.S. have been to increase recognition of the mental health disorders of mentally retarded people, develop appropriate assessment techniques, establish both residential and outpatient services, and improve research by clarifying the roles of federal funding agencies. (JDD)
Le Jan, Guylaine; Le Bouquin-Jeannes, Regine; Costet, Nathalie; Troles, Nolwenn; Scalart, Pascal; Pichancourt, Dominique; Faucon, Gerard; Gombert, Jean-Emile
Dyslexia is a specific disorder of language development that mainly affects reading. Etiological researches have led to multiple hypotheses which induced various diagnosis methods and rehabilitation treatments so that many different tests are used by practitioners to identify dyslexia symptoms. Our purpose is to determine a subset of the most…
Juan-Sallés, Carles; Garner, Michael M
This article focuses on neoplastic diseases because they may be the most frequent disease processes in captive hedgehogs according to the literature and authors' case files and the most common cases submitted for cytologic diagnosis in these species, particularly the African hedgehog (Atelerix albiventris).
BOUCKAERT, A., Computer-aided diagnosis of goitres in a cancer department, Int. J. Bio-’Med. Comput., 3 (1972) p. 3. BOYLE, J. A., GREIG, W. R., FRANKLIN, D...toxic goitre , Q. J. Med., 35 (1966) p. 565. Bricetti, A. B. and Bleich, H. L., A computer program that evaluates patients with hypercalcemia, J
Seery, Carol Hubbard
Purpose: This case study demonstrates the application of an assessment protocol for differential diagnosis of psychogenic stuttering, neurogenic stuttering, developmental stuttering, and malingering. Method: A male in his late 30s, accused of armed robbery, was evaluated for stuttering at the request of his defense attorney. The speech assessment…
Wu, A.; Meador, J.
Experimental results obtained with the use of measurement reduction for statistical IC fault diagnosis are described. The reduction method used involves data pre-processing in a fashion consistent with a specific definition of parametric faults. The effects of this preprocessing are examined.
Silva, Joas L. Da; Hirata, Rosario D.C.; Hirata, Mario H.
Bacteriophages have been researched as a new alternative to antibiotics. These viruses inject their genetic material into bacteria and use their host machinery to multiply themselves. The research of bacteriophages in Brazil will certainly provide low-cost treatment of multidrug resistant bacteria, new microbiological diagnosis and advantages for the Brazilian food industry. PMID:24031398
Sampath, M.; Sengupta, R.; Lafortune, S.; Teneketzis, D.; Sinnamohideen, K.
We propose a Discrete Event Systems (DES) approach to the failure diagnosis problem. We present a methodology for modeling physical systems in a DES framework. We discuss the notion of diagnosability and present the construction procedure of the diagnoser. Finally, we illustrate our approach using a Heating, Ventilation and Air Conditioning (HVAC) system.
Slim-Saidi, L; Mehiri-Zeghal, E; Ghariani, A; Tritar, F
Bacteriological diagnosis of tuberculosis has benefited in recent years from many technological advances to improve rapidity and sensitivity of the techniques. Thus, new LED fluorescence microscopes are in the process of replacing the optical microscopes and the Ziehl-Neelsen technique, making the examination more precise, faster and easier. The manual and automatic liquid culture has improved Lowenstein-Jensen culture and helped shorten antibiotic sensitivity test, allowing appropriate management of patients. The development and standardization of molecular biology methods led to the rapid detection and identification of mycobacterium directly in clinical samples but also of resistance genes for early diagnosis of MDR-TB and dealing with them quickly. However, the performance of these techniques does not sufficiently cover the diagnosis of smear-negative tuberculosis, extrapulmonary forms, children- and immune-compromised tuberculosis where sensitivity is limited. The diagnosis of latent tuberculosis is reinforced by the in vitro release testing of gamma interferon overcoming the lack of specificity of the tuberculin skin test. Despite considerable progress, more amelioration is still needed to improve these techniques in order to extend them to the paucibacillary tuberculosis and to facilitate their access to low-resource countries.
Kellen, P E
Diaper dermatitis is one of the most common dermatoses occurring in infancy. It is an irritant dermatitis, in which a variety of factors act in concert to produce inflammation of the diapered skin. The differential diagnosis includes many common and some uncommon conditions. Successful treatment requires detailed instructions to caregivers regarding simple hygienic procedures and diapering practices.
Hansen, Mark Patrick
Cognitive diagnosis models (see, e.g., Rupp, Templin, & Henson, 2010) have received increasing attention within educational and psychological measurement. The popularity of these models may be largely due to their perceived ability to provide useful information concerning both examinees (classifying them according to their attribute profiles)…
Izquierdo, Luis A; Berkshire, Steven
The background risk of birth defects ranges from 2 to 5%. These birth defects are responsible for 30% of all admissions to pediatric hospitals and are responsible for a large proportion of neonatal and infant deaths. Medicine and Genetics have taken giant steps in their ability to detect and treat genetic disorders in utero. Screening tests for prenatal diagnosis should be offered to all pregnant women to assess their risk of having a baby with a birth defect or genetic disorder. Psychosocial and financial factors, inadequate insurance coverage, and the inability to pay for health care services are some of the known barriers to healthcare. These barriers are particularly magnified when there is a language barrier. From an economical standpoint it has been demonstrated that prenatal diagnosis has the potential of saving millions of dollars to our healthcare system. But when patients do not have the resources to access prenatal care and prenatal diagnosis cost shifting occurs, escalating healthcare costs. Our current healthcare system promotes inequalities in its delivery. With the existing barriers to access, quality, and costs of prenatal diagnosis we are confronted with an inefficient and flawed system.
McBride, James A; Carson, Culley C; Coward, Robert M
Testosterone supplementation therapy (TST) use has dramatically increased over the past decade, due to the availability of newer agents, aggressive marketing, and an increasing incidence of testosterone deficiency (TD). Despite the increase in TST, a degree of ambiguity remains as to the exact diagnostic criteria of TD, and administration and monitoring of TST. One explanation for this phenomenon is the complex role testosterone plays in multiple physiologic pathways. Numerous medical co-morbidities and medications can alter testosterone levels resulting in a wide range of nonspecific clinical signs and symptoms of TD. The diagnosis is also challenging due to the lack of a definitive serum total testosterone level that reliably correlates with symptoms. This observation is particularly true in the aging male and is exacerbated by inconsistencies between different laboratory assays. Several prominent medical societies have developed guideline statements to clarify the diagnosis, but they differ from each other and with expert opinion in several ways. Aside from diagnostic dilemmas, there are numerous subtle advantages and disadvantages of the various testosterone agents to appreciate. The available TST agents have changed significantly over the past decade similar to the trends in the diagnosis of TD. Therefore, as the usage of TST increases, clinicians will be challenged to maintain an up-to-date understanding of TD and TST. The purpose of this review is to provide a clear description of the current strategies for diagnosis and management of TD. PMID:25532575
A measuring system combining subnanosecond laser-induced fluorescence with microscopic signal detection was installed and used for diverse projects in the biomedical and environmental fields. These projects range from tumor diagnosis and enzymatic analysis to measurements of the activity of methanogenic bacteria, which affect biogas production and waste water cleaning. The advantages of this method and its practical applicability are discussed.
A measuring system combining subnanosecond laser-induced fluorescence with microscopic signal detection was installed and used for diverse projects in the biomedical and environmental field. These projects are ranging from tumor diagnosis and enzymatic analysis to measurements of the activity of methanogenic bacteria which effect biogas production and waste water cleaning. The advantages of this method and its practical applicability are discussed.
Taylor, Julie Lounds; Warren, Zachary E.
The current study examined depressive symptoms, concerning the week following autism spectrum diagnosis and an average of 1.4 years later, in mothers (n = 75) of young children diagnosed with an autism spectrum disorder (ASD). Over three-quarters of mothers (78.7%) provided retrospective reports of clinically significant depressive symptoms…
Glazer, Susan Mandel, Ed.; And Others
In an effort to better understand children's reading behavior, this volume offers naturalistic assessments of reading performance in multiple settings and at all levels. The chapters and their authors are as follows: (1) "Reexamining Reading Diagnosis" (Susan Mandel Glazer and Lyndon W. Searfoss); (2) "Reexamining the Role of…
Morton, Alison J
Septic arthritis (SA) is a common orthopedic condition encountered in horses that are presented to equine veterinarians. Successful out-come is dependent on prompt and thorough evaluation and treatment. This article briefly reviews the pathophysiology, outlines diagnostics, describes treatment options and prognostics, and discusses current research in diagnosis and treatment of SA.
Lopez, C.; Roizman, B.
This book contains 24 selections. Some of the titles are: Molecular Biology of Latent HSV-1; Molecular Genetics of Antiviral Chemotherapy of Herpes Viruses; Molecular Basis of Foscarnet Action; Use of Vaccinia Virus as a Vector for Expression of Herpesvirus Genes; and Diagnosis of Herpesvirus with Monoclonal Antibodies.
Autism Spectrum Disorders have for some time been the focus of intense interest for clinicians and researchers because of the high prevalence of the disorders among children in the community (approximately 1%), their severity and pervasiveness. Particular attention has been paid to the early diagnosis of the disorder and to the intensive therapeutic intervention. Currently the best prognosis for autism lays in the early diagnosis and intervention. Postponing the diagnosis and the intervention beyond infancy is considered loss of precious time. The diagnosis of autism, which begins early in life, was until recently considered that could be reliability made at the age of 3 years. Recent follow up studies however on children at risk for autism (children who had an older sibling with autism) have shown that the clinical signs of autism emerge at the end of the first year and become distinct by the end of the second year when the diagnosis can reliably be made. From a clinical perspective it is noted that the early clinical signs of risk for autism are related to social communication (e.g. limited or absent response when calling his/her name and to joint attention), stereotype behaviours and body movements or unusual handling of objects (e.g. intensive observation of objects and stereotype movements of hands and tapping or spinning), incongruent regulation of emotions (reduced positive and increased negative emotion). There is also delay in developmental characteristics such as the language (both receptive and expressive) and motor (particularly in postural control - characteristic is the drop of the head backwards when the infant is held in horizontal position). Studies on various aspects of the endophenotype of certain clinical signs among infants at risk for Autism Spectrum Disorders, such as avoidance of eye contact, delay in verbal communication and increase of the head circumference, may provide useful information and may assist the clinician on follow up in the
Gao, Wensheng; Bai, Cuifen; Liu, Tong
In order to diagnose transformer fault efficiently and accurately, a dynamic integrated fault diagnosis method based on Bayesian network is proposed in this paper. First, an integrated fault diagnosis model is established based on the causal relationship among abnormal working conditions, failure modes, and failure symptoms of transformers, aimed at obtaining the most possible failure mode. And then considering the evidence input into the diagnosis model is gradually acquired and the fault diagnosis process in reality is multistep, a dynamic fault diagnosis mechanism is proposed based on the integrated fault diagnosis model. Different from the existing one-step diagnosis mechanism, it includes a multistep evidence-selection process, which gives the most effective diagnostic test to be performed in next step. Therefore, it can reduce unnecessary diagnostic tests and improve the accuracy and efficiency of diagnosis. Finally, the dynamic integrated fault diagnosis method is applied to actual cases, and the validity of this method is verified.
Gao, Wensheng; Liu, Tong
In order to diagnose transformer fault efficiently and accurately, a dynamic integrated fault diagnosis method based on Bayesian network is proposed in this paper. First, an integrated fault diagnosis model is established based on the causal relationship among abnormal working conditions, failure modes, and failure symptoms of transformers, aimed at obtaining the most possible failure mode. And then considering the evidence input into the diagnosis model is gradually acquired and the fault diagnosis process in reality is multistep, a dynamic fault diagnosis mechanism is proposed based on the integrated fault diagnosis model. Different from the existing one-step diagnosis mechanism, it includes a multistep evidence-selection process, which gives the most effective diagnostic test to be performed in next step. Therefore, it can reduce unnecessary diagnostic tests and improve the accuracy and efficiency of diagnosis. Finally, the dynamic integrated fault diagnosis method is applied to actual cases, and the validity of this method is verified. PMID:25685841
Banerjee, Mousumi; Muenz, Daniel G.; Worden, Francis P.; Haymart, Megan R.
Background The largest growth in differentiated thyroid cancer (DTC) diagnosis is in low-risk cancers. Trends in imaging after DTC diagnosis are understudied. Hypothesizing a reduction in imaging utilization due to rising low-risk disease, we evaluated post-diagnosis imaging patterns over time and patient characteristics that are associated with likelihood of imaging. Methods Using the Surveillance Epidemiology and End Results-Medicare database, we identified patients diagnosed with localized, regional or distant DTC between 1991 and 2009. We reviewed Medicare claims for neck ultrasound, I-131 scan, or PET scan within 3 years post-diagnosis. Using regression analyses we evaluated trends of imaging utilization. Multivariable logistic regression was used to estimate the likelihood of imaging based on patient characteristics. Results 23,669 patients were included. Patients diagnosed during 2001-2009, compared to 1991-2000, were more likely to have localized disease (p<0.001) and tumors less than 1cm (p<0.001). Use of neck ultrasound and I-131 scan increased in patients with localized disease (p=<0.001 and p=0.003, respectively), regional disease (p<0.001 and p<0.001), and distant metastasis (p=0.001 and p=0.015). Patients diagnosed after 2000 were more likely to undergo neck ultrasound (OR 2.15, 95% CI 2.02-2.28) and I-131 scan (OR 1.44, 95% CI 1.35-1.54). PET scan use from 2005-2009, compared to 1996-2004, increased 32.4-fold (p=<0.001) in localized patients, 13.1-fold (p<0.001) in regional disease patients, and 33.4-fold (p<0.001) in patients with distant DTC. Conclusion Despite a rise in low-risk disease, the use of post-diagnosis imaging increased in all stages of disease. The largest growth was in use of PET scan after 2004. PMID:25565063
Xu, Kai-Feng; Lo, Bee Hong
Lymphangioleiomyomatosis (LAM) is an uncommon disease presented as diffuse thin-walled cystic changes in the lung. The main differential diagnoses include pulmonary Langerhans’ histiocytosis (PLCH), Birt-Hogg-Dubé syndrome (BHD), lymphoid interstitial pneumonia (LIP), and amyloidosis. A combination of clinical, radiological, and pathological approaches as well as genetic testing will clarify the diagnosis in most cases. LAM is a disease almost exclusively in women. Dyspnea, pneumothorax, and hemoptysis are common presentations in LAM patients. LAM is also a lymphatic disorder affecting lymphatic vessels and lymph nodes. Chylothorax, chylous ascites, and lymphangiomyomas are frequently seen. LAM can present sporadically as a single entity or as part of tuberous sclerosis complex (TSC). Angiomyolipoma (AML) is a characteristic extra-pulmonary lesion, either found in association with sporadic or TSC-related LAM. High-risk populations should be screened for LAM, including adult women with TSC and female patients with spontaneous pneumothorax, AMLs in the kidney, and diffuse cystic lung diseases. Definitive diagnosis of LAM is based on a high level of clinical suspicion on presentation supported by pathological findings or by a distinct feature, such as a history of TSC, AMLs in the kidney, chylothorax, or chylous ascites. Vascular endothelial growth factor-D (VEGF-D) in serum is a noninvasive and reliable diagnostic biomarker. In experienced centers, trans-bronchial lung biopsy (TBLB) provides a convenient and safe way to obtain lung specimens for diagnostic purposes. An effective treatment for LAM is now available, namely using a mechanistic target of rapamycin (mTOR) inhibitor such as sirolimus. Efficacy of sirolimus has been confirmed in clinical trials. Research in other molecular-targeted therapies is under investigation. A previously little-known rare disease with no cure is now better understood with regards to its pathogenesis, diagnosis, and management. In
Redondo, Pedro; Aguado, Leyre; Martínez-Cuesta, Antonio
There is significant confusion in the literature when describing vascular anomalies, and vascular malformations are often misnamed or incorrectly classified. Part I of this two-part series on the diagnosis and management of extensive vascular malformations of the lower limbs will discuss the dermatologist's role in the diagnosis of these lesions. At least nine types of vascular malformations with specific clinical and radiologic characteristics must be distinguished in the lower limbs: Klippel-Trénaunay syndrome, port-wine stain with or without hypertrophy, cutis marmorata telangiectatica congenita, macrocephaly-capillary malformation, Parkes Weber syndrome, Stewart-Bluefarb syndrome, venous malformation, glomuvenous malformation, and lymphatic malformation. This article highlights the differences in clinical appearance and discusses the differential diagnosis of extensive vascular malformations in an attempt to ensure earlier diagnosis and better outcomes for these patients.
Xia, Li; Fei, Qi
This paper has analyzed merits and demerits of both neural network technique and of the information fusion methods based on the D-S (dempster-shafer evidence) Theory as well as their complementarity, proposed the hierarchical information fusion fault diagnosis strategy by combining the neural network technique and the fused decision diagnosis based on D-S Theory, and established a corresponding functional model. Thus, we can not only solve a series of problems caused by rapid growth in size and complexity of neural network structure with diagnosis parameters increasing, but also can provide effective method for basic probability assignment in D-S Theory. The application of the strategy to diagnosing faults of motor bearings has proved that this method is of fairly high accuracy and reliability in fault diagnosis.
Amihăesei, Ioana Cristina
Bipolar disorder is manifesting as a mood disorder, typically showing episodes of mania, alternating with depressive episodes. The subtypes are including bipolar I disorder (one or several manic episodes) and bipolar II disorder (hypomanic episodes and one or several major depressive episodes). Nevertheless, sub-threshold diagnosis criteria may include another 5.1, up to 6.4% of the population as having a bipolar spectrum disorder diagnosis. Anyone who received the diagnosis is not considered cured afterwards (just in remission). Diagnosis is considering the symptoms of mania, hypomania and depression. Therapy is based on lithium, anticonvulsants, for the manic symptoms, lamotrigine for the depressive episodes and antipsychotics. Under medication, most of the affected subjects are living a normal life; to a certain degree, medication may also prevent the relapses.
Miller, Chad S
Nearly half of medical errors can be attributed to an error of clinical reasoning or decision making. It is estimated that the correct diagnosis is missed or delayed in between 5% and 14% of acute hospital admissions. Through understanding why and how physicians make these errors, it is hoped that strategies can be developed to decrease the number of these errors. In the present case, a patient presented with dyspnea, gastrointestinal symptoms and weight loss; the diagnosis was initially missed when the treating physicians took mental short cuts and used heuristics as in this case. Heuristics have an inherent bias that can lead to faulty reasoning or conclusions, especially in complex or difficult cases. Affective bias, which is the overinvolvement of emotion in clinical decision making, limited the available information for diagnosis because of the hesitancy to acquire a full history and perform a complete physical examination in this patient. Zebra retreat, another type of bias, is when a rare diagnosis figures prominently on the differential diagnosis but the physician retreats for various reasons. Zebra retreat also factored in the delayed diagnosis. Through the description of these clinical reasoning errors in an actual case, it is hoped that future errors can be prevented or inspiration for additional research in this area will develop.
Khudhur, Ahmed Salih; Di Zenzo, Giovanni; Carrozzo, Marco
The concept of lichenoid tissue reaction/interface dermatitis was introduced in dermatology to define a number of diverse inflammatory skin diseases linked together by the presence of common histopathological features. Similarly to the skin, the oral mucosa is affected by a variety of oral lichenoid lesions. Oral LTRs (OLTRs) include: oral lichen planus; oral lichenoid contact lesion; oral lichenoid drug reaction; oral lichenoid lesions of graft-versus-host disease; oral discoid lupus erythematosus; oral lesions of systemic lupus erythematosus; erythema multiforme; paraneoplastic pemphigus/paraneoplastic autoimmune multiorgan syndrome; chronic ulcerative stomatitis and lichen planus pemphigoid. Traditionally, diagnosis of OLTRs relies on clinical and histological correlation but in several instances this approach fails to provide a reliable diagnosis. Inclusion of molecular techniques may refine our ability to differentiate OLTRs.
Alcalá-Hernández, Luis; Mena-Ribas, Ana; Niubó-Bosh, Jordi; Marín-Arriaza, Mercedes
Clostridium difficile is the leading cause of nosocomial diarrhoea in developed countries, and is one of the main aetiologic agents of community diarrhea. The eruption of the hypervirulent strain BI/NAP1/027 has given rise to an increase in the morbidity and mortality of C.difficile infection (CDI). This document aims to review the main clinical pictures of CDI and the laboratory diagnosis, including sampling, transport and storage of specimens, specimen processing, diagnostic procedures, antimicrobial susceptibility testing, and molecular characterisation of the isolates. The main purpose of the article is to develop a practical document that provides answers to the main questions that arise in the laboratory diagnosis of CDI.
Ringer, Mark J.; Quinn, Todd M.; Merolla, Anthony
The Autonomous Power System (APS) project at NASA Lewis Research Center is designed to demonstrate the abilities of integrated intelligent diagnosis, control, and scheduling techniques to space power distribution hardware. Knowledge-based software provides a robust method of control for highly complex space-based power systems that conventional methods do not allow. The project consists of three elements: the Autonomous Power Expert System (APEX) for fault diagnosis and control, the Autonomous Intelligent Power Scheduler (AIPS) to determine system configuration, and power hardware (Brassboard) to simulate a space based power system. The operation of the Autonomous Power System as a whole is described and the responsibilities of the three elements - APEX, AIPS, and Brassboard - are characterized. A discussion of the methodologies used in each element is provided. Future plans are discussed for the growth of the Autonomous Power System.
Liu, Jung-Tai; Yeh, Horng-Ming; Liu, Shyun-Yeu; Chen, Kow-Tong
Our understanding of psoriatic arthritis has evolved as new knowledge of the disease has emerged. However, the exact prevalence of psoriatic arthritis is unknown, and its pathogenesis has not been fully elucidated. Genetic, environmental, and immunologic factors have all been implicated in disease development. Early diagnosis and treatment have become primary objectives in clinical rheumatology. Psoriatic arthritis not only causes functional impairment, but also increases mortality risk of patients. The advent of new therapeutic agents capable of arresting the progression of joint damage is expected. However, early psoriatic arthritis assessment remains limited. The objectives of this article are to outline the epidemiology, diagnosis, and treatment of psoriatic arthritis and to suggest a paradigm for identifying early psoriatic arthritis patients. PMID:25232529
Arena, Paolo; Basile, Adriano; Bucolo, Maide; Fortuna, Luigi
Medical diagnosis is one of the most important area in which image processing procedures are usefully applied. Image processing is an important phase in order to improve the accuracy both for diagnosis procedure and for surgical operation. One of these fields is tumor/cancer detection by using Microarray analysis. The research studies in the Cancer Genetics Branch are mainly involved in a range of experiments including the identification of inherited mutations predisposing family members to malignant melanoma, prostate and breast cancer. In bio-medical field the real-time processing is very important, but often image processing is a quite time-consuming phase. Therefore techniques able to speed up the elaboration play an important rule. From this point of view, in this work a novel approach to image processing has been developed. The new idea is to use the Cellular Neural Networks to investigate on diagnostic images, like: Magnetic Resonance Imaging, Computed Tomography, and fluorescent cDNA microarray images.
Pazos-López, Pablo; García-Rodríguez, Cristina; Guitián-González, Alba; Paredes-Galán, Emilio; Álvarez-Moure, María Ángel De La Guarda; Rodríguez-Álvarez, Marta; Baz-Alonso, José Antonio; Teijeira-Fernández, Elvis; Calvo-Iglesias, Francisco Eugenio; Íñiguez-Romo, Andrés
Pulmonary vein stenosis (PVS) is rare condition characterized by a challenging diagnosis and unfavorable prognosis at advance stages. At present, injury from radiofrequency ablation for atrial fibrillation has become the main cause of the disease. PVS is characterized by a progressive lumen size reduction of one or more pulmonary veins that, when hemodynamically significant, may raise lobar capillary pressure leading to signs and symptoms such as shortness of breath, cough, and hemoptysis. Image techniques (transesophageal echocardiography, computed tomography, magnetic resonance and perfusion imaging) are essential to reach a final diagnosis and decide an appropriate therapy. In this regard, series from referral centers have shown that surgical and transcatheter interventions may improve prognosis. The purpose of this article is to review the etiology, assessment and management of PVS.
Vollmer, Robin T
When immunohistochemical stains that are specific for specific tumor diagnoses do not yield diagnostic results, we often turn to less specific immunohistochemical stains and consider the resulting lists of possible tumor types. Typically, such lists are ordered according to tumor sensitivities for the stains. In probability terminology, sensitivity is the conditional probability of a positive stain given a specific tumor. Yet, the most useful probability to know is the probability of a specific tumor diagnosis, given a set of staining results. Bayes theorem provides this probability. To illustrate its use for differential diagnosis, I apply it here to the situation of carcinomas of uncertain primary site and use the information provided by stains for cytokeratin 7 and cytokeratin 20.
Hemophagocytic lymphohistiocytosis occurring as a primary or acquired disorder is a condition of chaotic and uncontrolled immune system stimulation. Cytotoxic cells and macrophages cause multiorgan damage, hemophagocytosis, and severe systemic inflammation. Clinical manifestations include a fever, organ enlargement, and weight loss. Laboratory tests show bicytopenia or pancytopenia, cytolysis and cholestasis, serum ferritin elevation, and clotting disorders. The reference standard for the diagnosis remains the presence in histological specimens of hemophagocytic macrophages, which may be lacking early in the disease, leading to diagnostic challenges. Inherited forms produce symptoms in early childhood and are fatal in the absence of specific treatment. In adults, the clinical spectrum ranges from mild and self-limited hemophagocytic lymphohistiocytosis to rapidly fatal multiorgan failure. Many questions remain unresolved regarding the diagnosis and treatment in adults. This update is an attempt at providing answers.
Bailey, Elizabeth E; Fiorentino, David F
Amyopathic dermatomyositis can be a challenging diagnosis because patients lack traditional muscle findings. "Clinically amyopathic" dermatomyositis (CADM) accounts for the presence of subclinical muscle disease in some of these patients. These patients represent a substantial minority of dermatomyositis cases and have similar co-morbidities to "classic" dermatomyositis patients, including interstitial lung disease and malignancy. Clinically amyopathic dermatomyositis patients should not be considered as a distinct clinical entity from "classic" dermatomyositis, as they share antibody sub-types and associated co-morbidities, likely representing clinical spectrum of a common disease. It is essential for the clinician to be familiar with the clinical presentation of clinically amyopathic dermatomyositis, in order to facilitate early, accurate diagnosis and appropriate clinical management.
Gupte, Chinmay; St Mart, Jean-Pierre
The acutely swollen knee is a common presentation of knee pathology in both primary care and the emergency department. The key to diagnosis and management is a thorough history and examination to determine the primary pathology, which includes inflammation, infection or a structural abnormality in the knee. The location of pain and tenderness can aid to localization of structural pathology even before radiological tests are requested, and indeed inform the investigations that should be carried out. Aspiration of an acutely swollen knee can aid diagnosis and help relieve pain. The management of the swollen knee depends on underlying pathology and can range from anti-inflammatory medication for inflammation to operative intervention for a structural abnormality.
Vaslilyeva, V. P.
Features and significance of individual vestibular symptoms for the diagnosis of latent labyrinthitis and limited forms of labyrinthine affections offering considerable difficulties are discussed. Vestibular symptoms are indistinct. In case of the negative fistular symptom the greatest significance is acquired by the study of posture nystagmus according to the results of electronystagmograms, changes of tonic reactions and statics, as well as data of experimental vestibular tests. The necessity of evaluation of all the vestibular symptoms from the point of view of their vector characteristics and in a complex of evidence obtained by otoneurological examination of the patient is emphasized. Delicate topic and differential diagnosis of vestibular disturbances is of great importance and significance in the choice of the conservative or surgical method of treatment.
Bernstein, P S; Gross, S J; Cohen, D J; Tiller, G R; Shanske, A L; Bombard, A T; Marion, R W
Pfeiffer syndrome is an autosomal dominantly inherited disorder consisting of craniosynostosis, a flattened midface with a beaked nose and ocular proptosis, and broad and medially deviated thumbs and great toes. Recently, based on clinical findings, the disorder has been divided into three subtypes: type 1, characterized by mild expression; type 2, in which clover leaf skull deformity and multiple congenital anomalies are present at birth; and type 3, which is similar to type 2, but lacks the presence of the clover leaf skull at birth. We describe a fetus in whom sonographic findings of clover leaf skull deformity, ocular hypertelorism, and varus deformity of the great toe led to the prenatal diagnosis of Pfeiffer syndrome type 2. We believe this is the second prenatal diagnosis of Pfeiffer syndrome, and the first time type 2 has been definitely identified in the second trimester of pregnancy.
Immunohistochemistry (IHC) is essential in the diagnosis of soft tissue tumor and must rely on good quality technic. Among useful antibodies, it is important to distinguish those with a poor specificity required in order to establish the broad lineage, from those with high specificity, which may lead straightforward towards the entity. Diagnostically useful antibodies such as myogenin, ALK1 and DOG1 have been recently completed by MUC4 and STAT6 which show good sensitivity and specificity in the diagnosis of low-grade fibromyxoid sarcoma and solitary fibrous tumor respectively. ERG is also an interesting antibody. However, it is not completely specific of vascular tumors. Moreover, available material is often limited because of the increase of microbiopsy specimens. Therefore, it is mandatory to optimize this precious tissue by using these new antibodies, especially because molecular technics are increasingly performed in addition to IHC.
Harmatz, Paul; Shediac, Renee
Mucopolysaccharidosis VI (MPS VI), or Maroteaux-Lamy syndrome, is an autosomal recessive lysosomal storage disorder caused by deficient activity of the enzyme arylsulfatase B (ASB). Progressive accumulation of glycosaminoglycans (GAGs) in organs and tissues leads to the development of multisystem clinical manifestations. The presentation of MPS VI is genotypically and phenotypically diverse, with a large number of potential disease-causing mutations and a phenotypic spectrum ranging from very slowly to very rapidly progressing disease. Diagnosis of MPS VI relies on presence of clinical features, increased GAG levels in urine or low ASB activity in dried blood spots, and measurement of enzyme activity levels in leukocytes or fibroblasts. The management of MPS VI involves enzyme replacement therapy and medical and surgical treatment of disease manifestations. Liquid chromatography/tandem mass spectrometry of GAG-derived disaccharides in blood or urine is emerging as a valuable method in the diagnosis, prognosis and assessment of therapeutic efficacy in MPS VI.
Gross, S J; Benzie, R J; Sermer, M; Skidmore, M B; Wilson, S R
Although sacrococcygeal teratoma is a rare and potentially malignant tumor, 10 cases were documented during a 5-year period at the University of Toronto Perinatal Complex. Diagnosis was made in the six cases in which prenatal ultrasound examination was performed. One patient with twins elected to terminate the pregnancy at 19 weeks. In three of the cases diagnosed prenatally, serial ultrasound was performed. There was a 75% cesarean section rate. In all cases diagnosed prenatally, the large tumor size affected the mode of delivery. In the four cases without prenatal diagnosis, two infants were delivered vaginally, and two were delivered abdominally for obstetric reasons. There was one case of neonatal morbidity where tumor vascularity and rupture resulted in hypovolemic shock. All tumors were resected and found to be benign. A plan of management is recommended and, with appropriate obstetric and pediatric care, a good outcome can be anticipated in most cases.
Khan, Nahid Akhtar; Govindaraj, Periyasamy; Meena, Angamuthu Kannan; Thangaraj, Kumarasamy
Mitochondrial dysfunctions are known to be responsible for a number of heterogenous clinical presentations with multi-systemic involvement. Impaired oxidative phosphorylation leading to a decrease in cellular energy (ATP) production is the most important cause underlying these disorders. Despite significant progress made in the field of mitochondrial medicine during the last two decades, the molecular mechanisms underlying these disorders are not fully understood. Since the identification of first mitochondrial DNA (mtDNA) mutation in 1988, there has been an exponential rise in the identification of mtDNA and nuclear DNA mutations that are responsible for mitochondrial dysfunction and disease. Genetic complexity together with ever widening clinical spectrum associated with mitochondrial dysfunction poses a major challenge in diagnosis and treatment. Effective therapy has remained elusive till date and is mostly efficient in relieving symptoms. In this review, we discuss the important clinical and genetic features of mitochondrials disorders with special emphasis on diagnosis and treatment. PMID:25857492
Springer, Bryan D
Periprosthetic joint infection remains one of the most common failure modes following total hip and total knee arthroplasty. As such, a systematic and cost effective approach to the evaluation and work-up of a patient with a suspected periprosthetic joint infection should be undertaken in every patient with a painful total joint. Although we have many diagnostic tools, a history and physical remain the most important. Many of the current laboratory tests are indirect measure of infection, lack specificity for diagnosis of infection, but serve as sensitive and cost effective screening tools. In addition, a new definition of periprosthetic infection helps to standardize the diagnosis. Biomarkers hold the promise of improved specificity and are becoming increasingly popular as a diagnostic tool.
Kabbach, Ghassan; Assi, Hussein A; Bolotin, George; Schuster, Michael; Lee, Hwa Jeong; Tadros, Micheal
Tumors of the liver and biliary tree, mainly hepatocellular carcinoma and cholangiocarcinoma, are the second leading cause of cancer related death worldwide and the sixth leading cause of cancer related death among men in developed countries. Recent developments in biomarkers and imaging modalities have enhanced early detection and accurate diagnosis of these highly fatal malignancies. These advances include serological testing, micro-ribonucleic acids, fluorescence in situ hybridization, contrast-enhanced ultrasound, and hepatobiliary-phase magnetic resonance imaging. In addition, there have been major developments in the surgical and nonsurgical management of these tumors, including expansion of the liver transplantation criteria, new locoregional treatments, and molecularly targeted therapies. In this article, we review various types of hepatobiliary tumors and discuss new developments in their diagnosis and management. PMID:26623263
Yubero, Delia; Montero, Raquel; Armstrong, Judith; Espinós, Carmen; Palau, Francesc; Santos-Ocaña, Carlos; Salviati, Leonardo; Navas, Placido; Artuch, Rafael
Coenzyme Q10 (CoQ) deficiency syndromes comprise a growing number of neurological and extraneurological disorders. Primary-genetic but also secondary CoQ deficiencies have been reported. The biochemical determination of CoQ is a good tool for the rapid identification of CoQ deficiencies but does not allow the selection of candidate genes for molecular diagnosis. Moreover, the metabolic pathway for CoQ synthesis is an intricate and not well-understood process, where a large number of genes are implicated. Thus, only next-generation sequencing techniques (either genetic panels of whole-exome and -genome sequencing) are at present appropriate for a rapid and realistic molecular diagnosis of these syndromes. The potential treatability of CoQ deficiency strongly supports the necessity of a rapid molecular characterization of patients, since primary CoQ deficiencies may respond well to CoQ treatment.
Le Gal, G; Righini, M
Over the last decades, important advances have been made in the diagnosis of venous thromboembolism (VTE). Current diagnostic strategies rely on the sequential use of non-invasive diagnostic tests, based on the pretest clinical probability of disease. Diagnostic tests include D-dimer measurement, leg vein compression ultrasonography, chest computed tomography pulmonary angiography, or ventilation perfusion (V/Q) lung scan. The safety and cost-effectiveness of these strategies have been extensively validated. They have been widely implemented in clinical practice and have replaced the historical gold standard diagnostic tests (venography and pulmonary angiography). However, new challenges arise, including a lower clinical suspicion threshold and concerns on potential over-diagnosis of VTE. Moreover, the diagnostic management remains suboptimal in many subgroups of patients with suspected VTE: patients with prior VTE, pregnant women, or elderly patients.
Lucas, Jane S; Burgess, Andrea; Mitchison, Hannah M; Moya, Eduardo; Williamson, Michael; Hogg, Claire
Primary ciliary dyskinesia (PCD) is an inherited autosomal-recessive disorder of motile cilia characterised by chronic lung disease, rhinosinusitis, hearing impairment and subfertility. Nasal symptoms and respiratory distress usually start soon after birth, and by adulthood bronchiectasis is invariable. Organ laterality defects, usually situs inversus, occur in ∼50% of cases. The estimated prevalence of PCD is up to ∼1 per 10,000 births, but it is more common in populations where consanguinity is common. This review examines who to refer for diagnostic testing. It describes the limitations surrounding diagnosis using currently available techniques and considers whether recent advances to genotype patients with PCD will lead to genetic testing and screening to aid diagnosis in the near future. It discusses the challenges of monitoring and treating respiratory and ENT disease in children with PCD.
Stracke, H; Federlin, K
Distinction is made between peripheral and autonomic neuropathy. The former is usually painful, while the latter is especially associated with cardiovascular, gastrointestinal and urogenital disturbances. In the diagnosis of peripheral neuropathy, a basic neurological examination (reflex status, vibratory sense) takes precedence over measuring the velocity of nerve conduction and determining the temperature and pain thresholds. The diagnostic approach to the autonomic disturbances is organ-specific (testing of cardiovascular reflexes, sonographic and scintigraphic determination of gastric emptying, infusion urography and uroflowmetry). Early diagnosis and optimal diabetes control are the therapeutic consequences. Symptomatic treatment includes the administration of analgesics, antidepressants and carbamazepine. A newer drug being currently tried is mexiletine. High doses of alpha-liponic acid as well as the fat-soluble B vitamins are used for causal therapy. Clinical trials with aldose reductase inhibitors and gamma-linolenic acid are under way.
Maestrelli, P; Guarnieri, G
Occupational risk factors may induce chronic nonmalignant respiratory diseases such as pneumoconiosis, hypersensitivity pneumonitis, chronic obstructive pulmonary disease (COPD), asthma or bronchiolitis obliterans syndrome. Diagnosis is well codified by international guidelines for most of these occupational diseases except for COPD. The study of occupational COPD is complicated by several issues. In fact, COPD is a multifactorial disease and has a long latency between exposure to causative agents and the occurrence of disease. The main confounding factor is smoking. The quantitative estimation of cigarette smoked is easier and more accurate than that of occupational exposure. The diagnosis of COPD is based on the presence of chronic airflow limitation at spirometry; moreover, an accelerated decline in respiratory function may be observed in the longitudinal evaluation of workers. The retrospective assignment of occupational aetiology of COPD remains difficult in individual cases, especially with a significant history of smoking.
Marsh, Christopher A.
The Integrated Status Assessment (ISA) prototype expert system performs system level fault diagnosis using rules and models created by the user. The ISA evolved from concepts to a stand-alone demonstration prototype using OPS5 on a LISP Machine. The LISP based prototype was rewritten in C and the C Language Integrated Production System (CLIPS) to run on a Personal Computer (PC) and a graphics workstation. The ISA prototype has been used to demonstrate fault diagnosis functions of Space Station Freedom's Operation Management System (OMS). This paper describes the development of the ISA prototype from early concepts to the current PC/workstation version used today and describes future areas of development for the prototype.
Li, Cheng-Chih; Jeng, Jyh-Cheng
Modern industrial plants are usually large scaled and contain a great amount of sensors. Sensor fault diagnosis is crucial and necessary to process safety and optimal operation. This paper proposes a systematic approach to detect, isolate and identify multiple sensor faults for multivariate dynamic systems. The current work first defines deviation vectors for sensor observations, and further defines and derives the basic sensor fault matrix (BSFM), consisting of the normalized basic fault vectors, by several different methods. By projecting a process deviation vector to the space spanned by BSFM, this research uses a vector with the resulted weights on each direction for multiple sensor fault diagnosis. This study also proposes a novel monitoring index and derives corresponding sensor fault detectability. The study also utilizes that vector to isolate and identify multiple sensor faults, and discusses the isolatability and identifiability. Simulation examples and comparison with two conventional PCA-based contribution plots are presented to demonstrate the effectiveness of the proposed methodology.
Razumilava, Nataliya; Gores, Gregory J.
Cholangiocarcinomas (CCAs) are tumors that develop along the biliary tract. Depending on their site of origin, they have different features and require specific treatments. Classification of CCAs into intrahepatic, perihilar, and distal subgroups has helped standardize the registration, treatment, and study of this lethal malignancy. Physicians should remain aware that cirrhosis and viral hepatitis B and C are predisposing conditions for intrahepatic CCA. Treatment options under development include locoregional therapies and a chemotherapy regimen of gemcitabine and cisplatin. It is a challenge to diagnose perihilar CCA, but an advanced cytologic technique of fluorescence in situ hybridization for polysomy can aid in diagnosis. It is important to increase our understanding of the use of biliary stents and liver transplantation in the management of perihilar CCA, as well as to distinguish distal CCAs from pancreatic cancer, because of different outcomes from surgery. We review advances in the classification, diagnosis, and staging of CCA, along with treatment options. PMID:22982100
Ferrarotti, Ilaria; Scabini, Roberta; Campo, Ilaria; Ottaviani, Stefania; Zorzetto, Michele; Gorrini, Marina; Luisetti, Maurizio
The laboratory diagnosis of alpha(1)-antitrypsin (AAT) deficiency (AATD) has evolved over the last 40 years since the first cases of the disorder were reported. It is currently performed in specialized centers, and it requires a combination of different biochemical methods: nephelometric AAT concentration, isoelectric focusing, genotyping, and sequencing. The availability of matrices such as the dried blood spot have facilitated the implementation of laboratory analyses for AATD, but they have also challenged laboratories to develop more reliable and reproducible techniques starting from dried blood. In this article, we describe the protocols we have optimized for AATD diagnosis from dried blood spot, in an attempt to hopefully provide useful information for physicians and scientists involved in this diagnostic line. We also describe the diagnostic flowchart for AATD detection that we have developed accordingly.
Rodriguez, Silvia; Wilkins, Patricia; Dorny, Pierre
Cysticercosis, the infection with the larval stage of Taenia solium, is a cause of neurological symptoms including seizures, affecting the quality of life of patients and their families. Diagnosis focuses on brain imaging and serological tests are mostly used as confirmatory tools. Most cases, however, occur in poor endemic areas, where both kinds of diagnostic tools are poorly available. Development of point of care diagnostic tests is one of the most important priorities for cysticercosis researches today. The ideal point of care test would require detection of viable cysticercosis and hopefully identify cases with severe or progressive forms of neurocysticercosis, leading to referral of the patient for specialized medical attention. This manuscript describes the evolution of the serological diagnosis of cysticercosis over time, and the characteristics of the most common currently available tools, their advantages and disadvantages, and their potential use in future diagnostic tests. PMID:23265553
Bauer, T T; Nilius, G; Grüning, W; Rasche, K
The acute exacerbation of COPD (AECOPD) is a life-threatening clinical situation. This review summarizes the definition of AECOPD, the severity assessment, typical clinical signs and symptoms, and refers to clinical pitfalls of diagnosis and therapy. Important aspects of clinical history and physical examination in severe exacerbations are reported. The necessary accompanying examinations like chest X-ray, blood gas analysis, ECG and echocardiography and their differential diagnosis as well as therapeutic significance are described. The most important lab examinations are summarized and controversial parameters, e.g., procalcitonin, are commented upon. The differentiated need for a microbiological sputum screening is emphasized. The authors place special weight on the essential components of the therapeutic management of severe AECOPD. Practical aspects of uncontrolled oxygen therapy, drug selection, and application form of inhalative acute therapy, dose, and duration of glucocorticoids, the indication for antibiotics, mechanical ventilation, and also opiates are summarized.
Badesch, David B; Champion, Hunter C; Sanchez, Miguel Angel Gomez; Hoeper, Marius M; Loyd, James E; Manes, Alessandra; McGoon, Michael; Naeije, Robert; Olschewski, Horst; Oudiz, Ronald J; Torbicki, Adam
The diagnosis and assessment of pulmonary arterial hypertension is a rapidly evolving area, with changes occurring in the definition of the disease, screening and diagnostic techniques, and staging and follow-up assessment. The definition of pulmonary hypertension has been simplified, and is now based on currently available evidence. There has been substantial progress in advancing the imaging techniques and biomarkers used to screen patients for the disease and to follow up their response to therapy. The importance of accurate assessment of right ventricular function in following up the clinical course and response to therapy is more fully appreciated. As new therapies are developed for pulmonary arterial hypertension, screening, prompt diagnosis, and accurate assessment of disease severity become increasingly important. A clear definition of pulmonary hypertension and the development of a rational approach to diagnostic assessment and follow-up using both conventional and new tools will be essential to deriving maximal benefit from our expanding therapeutic armamentarium.
Lakatos, László; Lakatos, Péter László
Colonic diverticular disease is one of the most common gastrointestinal disorders in the Western world, affecting approximately 50% of the population above the age of 70 years. Symptoms develop only in about one quarter of the affected individuals with complications in one-third of the symptomatic patients. Diagnosis is mostly confirmed by colonoscopy. Abdominal CT is the most sensitive for the diagnosis of complicated severe diverticulitis, while colonoscopy or in severe cases angiography may be performed in bleeding patients. Initial therapy of non-complicated symptomatic diverticulitis includes antibiotics and more recently non-absorbable antibiotics. In complicated cases should be treated with broad spectrum i.v. antibiotics, however surgery may became necessary in a minority of the cases. The proportion of patients needing acute surgical intervention has decreased in the last decades with the advancement of conservative management including medical therapy, endoscopy and imaging techniques and the indication of elective was also changed.
Núñez-Batalla, Faustino; Jáudenes-Casaubón, Carmen; Sequí-Canet, Jose Miguel; Vivanco-Allende, Ana; Zubicaray-Ugarteche, Jose; Cabanillas-Farpón, Rubén
Important progress in the fields of molecular genetics (principally) and diagnostic imaging, together with the lack of a consensus protocol for guiding the diagnostic process after confirming deafness by neonatal screening, have led to this new work document drafted by the Spanish Commission for the Early Detection of Child Deafness (Spanish acronym: CODEPEH). This 2015 Recommendations Document, which is based on the most recent scientific evidence, provides guidance to professionals to support them in making decisions regarding aetiological diagnosis. Such diagnosis should be performed without delay and without impeding early intervention. Early identification of the causes of deafness offers many advantages: it prevents unnecessary trouble for the families, reduces health system expenses caused by performing different tests, and provides prognostic information that may guide therapeutic actions.
Abdulkarim, A S; Murray, J A
Coeliac disease is a chronic inflammatory condition associated with small intestinal injury that results in the malabsorption of different nutrients. The damaging factor is gluten present in wheat, barley and rye. The diagnosis relies on the clinical picture of the patient, serological markers for coeliac disease, characteristic findings of small intestinal biopsy and, eventually, clinical improvement on a gluten-free diet. Our strategies for the diagnosis of coeliac disease have changed dramatically within the last 10 years. The advent of serological markers with high sensitivity and specificity is changing our understanding of the disease and its prevalence. Treatment includes a life-long gluten-free diet to prevent the recurrence of symptoms and other potential consequences. Most coeliac disease remains under-diagnosed; the utilization of more accurate serological tests and a greater awareness of its many presentations will aid its identification.
Gupte, Chinmay; St Mart, Jean-Pierre
The acutely swollen knee is a common presentation of knee pathology in both primary care and the emergency department. The key to diagnosis and management is a thorough history and examination to determine the primary pathology, which includes inflammation, infection or a structural abnormality in the knee. The location of pain and tenderness can aid to localization of structural pathology even before radiological tests are requested, and indeed inform the investigations that should be carried out. Aspiration of an acutely swollen knee can aid diagnosis and help relieve pain. The management of the swollen knee depends on underlying pathology and can range from anti-inflammatory medication for inflammation to operative intervention for a structural abnormality. PMID:23821708
Chambers, Thomas M; Reedy, Stephanie E
In horses, presumptive diagnosis of equine influenza is commonly made on the basis of clinical signs. This alone is insufficient for confirmation of equine influenza, because other equine infectious respiratory diseases can in some degree have similar clinical presentations. Surveillance and control of equine influenza also necessitate detection of subclinical cases. Effective diagnosis of equine influenza virus infection is critically dependent on obtaining adequate specimens of virus-containing respiratory secretions for testing. These specimens are also valuable as sources for isolation of virus strains for antigenic characterization and potential inclusion in vaccines. Both nasal swabs and nasopharyngeal swabs are employed in horses. These differ little in their invasiveness, but nasopharyngeal swabs typically yield more virus than nasal swabs and are superior diagnostic specimens. Methods for obtaining nasopharyngeal swab specimens are described.
Okon, L G; Werth, V P
Cutaneous lupus erythematosus (CLE) encompasses a wide range of dermatologic manifestations, which may or may not be associated with the development of systemic disease. Cutaneous lupus is divided into several sub-types, including acute CLE (ACLE), sub-acute CLE (SCLE) and chronic CLE (CCLE). CCLE includes discoid lupus erythematosus (DLE), LE profundus (LEP), chilblain cutaneous lupus and lupus tumidus. The diagnosis of these diseases requires proper classification of the sub-type, through a combination of physical examination, laboratory studies, histology, antibody serology and occasionally direct immunofluorescence, while ensuring to exclude systemic disease. The treatment of cutaneous lupus consists of patient education on proper sun protection along with appropriate topical and systemic agents. Systemic agents are indicated in cases of widespread, scarring or treatment-refractory disease. In this chapter, we discuss issues in classification and diagnosis of the various sub-types of CLE, as well as provide an update on therapeutic management.
Hueso Gutiérrez, P; Jiménez Alvarez, S; Gil-Carcedo Sañudo, E; Gil-Carcedo García, L M; Ramos Sánchez, C; Vallejo Valdezate, L A
Otomycosis is a common disease. We try to analyze the causative factors for otomycosis in our environment. Our study includes 451 patients with a presumed diagnosis of otomycosis. The patients were included by ear, nose and throat specialist and general doctors; the diagnosis was confirmed in 24.43% and 16.16% respectively. The most common fungal pathogen found was Aspergillus spp. and Candida sp. The high frecuency of Aspergillus Niger may be because of the diferent ways of gathering samples. The abundance of Candida parapsilosis in the samples that came from general doctors may be because the inadequate treatment with topic antibiotics contributes fungal proliferation. We conclude that the causative factors for otomycosis could be avoided or treated. Treatment with antifungal agents is not enought to ensure complete cure, an furthermore the treatment should be aimed to restore the physiology of the external auditory cannal.
Bianca, S; Cataliotti, A; Bartoloni, G; Torrente, I; Barrano, B; Boemi, G; Lo Presti, M; Indaco, L; Barone, C; Ettore, G
Androgen insensitivity syndrome (AIS) (OMIM 300068) is an X-linked recessive genetic disorder with an XY karyotype that is caused by androgen receptor (AR) defects. We report a prenatal diagnosis case with clinical and molecular findings. The fetal phenotype was female, moreover the autopsy revealed the presence of abdominal testes confirmed by histopathological examination. The AR gene molecular analysis performed on the fetal DNA showed the presence of a c.2493C>T change in exon 4. The single nucleotide change resulted in a Q711X amino acid substitution within the AR ligand-binding domain of the protein that has never been described before in the literature. AIS is an important consideration in pregnancies that show sex discordance in ultrasonography and karyotype results with the opportunity to perform molecular analysis of the AR gene in order to confirm the diagnosis.
Shimose, Luis; Munoz-Price, L Silvia
Scabies remains a public health problem, especially in developing countries, with a worldwide incidence of approximately 300 million cases each year. Prolonged skin-to-skin contact is necessary to allow the transmission of the causative mite, Sarcoptes scabiei. Classic scabies presents with burrows, erythematous papules, and generalized pruritus. Clinical variants include nodular scabies and crusted scabies, also called Norwegian scabies. The diagnosis is based mainly on history and physical examination, but definitive diagnosis depends on direct visualization of the mites under microscopy. Alternative diagnostic methods include the burrow ink test, video-dermatoscopy, newly serologic tests like PCR/ELISA, and specific IgE directed toward major mite components. Treatment of scabies consists of either topical permethrin or oral ivermectin, although the optimal regimen is still unclear.
Warnatz, K; Peter, H-H
Primary immunodeficiency diseases of the adult are rare disorders, but often lead to serious consequences. Therefore an early diagnosis is critical. The variety in the clinical presentation, the complexity of the immune system and the ongoing discovery of new defects render it a difficult area for the involved physician. Due to the often imprecise complaint of a weak immune system the primary task is the identification of patients with true immunodeficiency. Subsequently, the immune defect needs to be identified in collaboration with a center for immunodeficiency disorders. The diagnostic procedure is dependent on the pattern of infections and follows a defined series of steps. This procedure should prevent costly diagnostic evaluation when not indicated, and also prevent the delayed diagnosis of patients with manifest immunodeficiency disease.
Di Rienzo, T; D'Angelo, G; D'Aversa, F; Campanale, M C; Cesario, V; Montalto, M; Gasbarrini, A; Ojetti, V
This review discusses one of the most relevant problems in gastrointestinal clinical practice: lactose intolerance. The role of lactase-persistence alleles the diagnosis of lactose malabsorption the development of lactose intolerance symptoms and its management. 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. Symptoms of lactose intolerance include abdominal pain, bloating, flatulence and diarrhea with a considerable intraindividual and interindividual variability in the severity. Diagnosis is most commonly performed by the non invasive lactose hydrogen breath test. Management of lactose intolerance consists of two possible clinical choice not mutually exclusive: alimentary restriction and drug therapy.
Diabetic nephropathy (DN) is a major cause of end-stage renal disease throughout the world in both developed and developing countries. This review briefly introduces the characteristic pathological changes of DN and Tervaert pathological classification, which divides DN into four classifications according to glomerular lesions, along with a separate scoring system for tubular, interstitial, and vascular lesions. Given the heterogeneity of the renal lesions and the complex mechanism underlying diabetic nephropathy, Tervaert classification has both significance and controversies in the guidance of diagnosis and prognosis. Applications and evaluations using Tervaert classification and indications for renal biopsy are summarized in this review according to recent studies. Meanwhile, differential diagnosis with another nodular glomerulopathy and the situation that a typical DN superimposed with a nondiabetic renal disease (NDRD) are discussed and concluded in this review. PMID:28316995
Pazos-López, Pablo; García-Rodríguez, Cristina; Guitián-González, Alba; Paredes-Galán, Emilio; Álvarez-Moure, María Ángel De La Guarda; Rodríguez-Álvarez, Marta; Baz-Alonso, José Antonio; Teijeira-Fernández, Elvis; Calvo-Iglesias, Francisco Eugenio; Íñiguez-Romo, Andrés
Pulmonary vein stenosis (PVS) is rare condition characterized by a challenging diagnosis and unfavorable prognosis at advance stages. At present, injury from radiofrequency ablation for atrial fibrillation has become the main cause of the disease. PVS is characterized by a progressive lumen size reduction of one or more pulmonary veins that, when hemodynamically significant, may raise lobar capillary pressure leading to signs and symptoms such as shortness of breath, cough, and hemoptysis. Image techniques (transesophageal echocardiography, computed tomography, magnetic resonance and perfusion imaging) are essential to reach a final diagnosis and decide an appropriate therapy. In this regard, series from referral centers have shown that surgical and transcatheter interventions may improve prognosis. The purpose of this article is to review the etiology, assessment and management of PVS. PMID:26839659
Goyal, P; Mittal, D; Ghosh, S; Agrawal, D; Sehgal, S; Singh, S
Primary thyroid tuberculosis is an extremely rare disease, even in countries where other forms of tuberculosis are abundant. TT has no age bar but usually affects women in fourth and fifth decade. Hereby, we report a case of 16-years-old girl presented with complaint of progressively increasing, painful thyroid swelling. Diagnosis of TT was made on cytology and there was no evidence of involvement of any other organ by tuberculosis. Despite of its rarity, TT is usually misdiagnosed. So, a clinician should always consider this entity in the differential diagnosis of thyroid swelling. Fine needle aspiration cytology is the best diagnostic method and can result in the avoidance of unnecessary thyroid surgeries.
Richardson, Jane S.; Prisant, Michael G.; Richardson, David C.
Model validation has evolved from a passive final gatekeeping step to an ongoing diagnosis and healing process that enables significant improvement of accuracy. A recent phase of active development was spurred by the worldwide Protein Data Bank requiring data deposition and establishing Validation Task Force committees, by strong growth in high-quality reference data, by new speed and ease of computations, and by an upswing of interest in large molecular machines and structural ensembles. Progress includes automated correction methods, concise and user-friendly validation reports for referees and on the PDB websites, extension of error correction to RNA and error diagnosis to ligands, carbohydrates, and membrane proteins, and a good start on better methods for low resolution and for multiple conformations. PMID:24064406
... time to go from fibromyalgia symptoms to a fibromyalgia diagnosis. Fibromyalgia can't be easily confirmed or ruled out ... there is no lab test to confirm a diagnosis of fibromyalgia, your doctor may want to rule out other ...