... Risk? Signs & Symptoms Diagnosis Treatment Options Immune Tolerance Induction Current issues in inhibitors Resources Prophylaxis Types of ... Risk? Signs & Symptoms Diagnosis Treatment Options Immune Tolerance Induction Current issues in inhibitors Resources Prophylaxis Types of ...
In Mexico among physicians it is common to use the term "bus diagnosis" to mean one that can be done only by looking someone, thanks to knowledge, experience and a bit of imagination. Ophthalmologists are able to do specialty diagnosis in some pictures of famous painters, thus "museum diagnosis." An aesthetic and historical research conducted for years provided the material. We present herein some examples of portraits made by Sharaku, Georg Groz, Il Bronzino, De la Tour, Vermeer, Rembrandt, Reynolds, Remedios Varo, Toulouse-Lautrec, Picasso, Ingres and others. The "museum diagnosis" enhances interest and aesthetic pleasure. Art could be useful as a tool for teaching clinical ophthalmology.
... 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.
Sen, H. Nida; Bodaghi, Bahram; Le Hoang, Phuc; Nussenblatt, Robert
Diagnosis of PIOL can be challenging. It requires a high degree of clinical suspicion and differential diagnosis includes infectious and non-infectious etiologies particularly the common masquaraders sarcoidosis, tuberculosis, viral retinitis and syphilis. The definitive diagnosis depends on demonstration of malignant lymphoma cells in ocular specimens or CSF. Ocular specimen could include vitreous, aqueous or chorioretinal biopsy. Ocular pathologist should be consulted prior to the diagnostic procedure to help handle and process the specimen appropriately. In addition to cytology, flow cytometry, immunohistochemistry, molecular analysis and cytokines may be used as adjuncts in facilitating the diagnosis. PMID:19585354
Starting from the clinical symptoms and the pathological-anatomical changes hints are given on the diagnosis of the rinderpest and how to distinguish it from other diseases. The paper discusses the differential diagnosis of the rinderpest with respect to mucosal disease, malignent catarrhal fever, Nairobi sheep disease, salmonellosis, pasteurellosis, and coccidiosis.
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... Treatment FAQs Malathion FAQs Epidemiology & Risk Factors Disease Biology Diagnosis Treatment Prevention & Control Resources for Health Professionals ... Frequently Asked Questions (FAQs) Epidemiology & Risk Factors Disease Biology Diagnosis Treatment Prevention & Control Resources for Health Professionals ...
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.
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.
Kushner, Irving; Greco, Peter J; Saha, P K; Gaitonde, Shilpa
Although it is widely recognized that diagnosis plays a central role in clinical medicine, in recent years the primacy of diagnosis has come under attack from several sources. 1. "Billable terms" are replacing traditional medical diagnoses. The former are based on International Classification of Diseases lists, which include many non-diagnoses such as symptoms and signs. 2. Diagnosis often gets short shrift because of the perceived urgency of discharge. 3. The problem oriented record, in practice, has frequently led to a shift in emphasis from synthesis of findings to fragmentation of problems. 4. Presumptive diagnoses frequently metamorphose into established diagnoses in medical records, even if incorrect. 5. A number of authors have apparently disparaged the importance of diagnosis. Nonetheless, it is clear that diagnosis must continue to play a central role in clinical medicine. We propose several ways by which we can resist these forces and assure that diagnosis retains its appropriate position of primacy.
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Sano, Daniela Tiemi; de Melo, Luciana Valentini; Tebcherani, Antonio José; Sanchez, Ana Paula Galli
Focal acral hyperkeratosis is a rare genodermatosis with an autosomal dominant pattern of inheritance. It is characterized by usually asymptomatic keratotic papules along the borders of the hands and/or feet. The main differential diagnosis is acrokeratoelastoidosis of Costa, which differs from the former only by not presenting elastorrhexis in histopathological examination, thus requiring this exam for a correct diagnosis. PMID:25184932
This monograph includes an extensive review and evaluation of the research literature and offers teachers and clinicians background for understanding reading diagnosis, the correlates and causes of reading disabilities, diagnostic techniques, and remediation. The following topics are discussed: (1) the nature and levels of diagnosis, (2) the…
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.
Cheng, Wei-Lun; Hsiao, Ching-Hua; Tseng, Hua-Wei; Lee, Tai-Ping
Prenatal examination plays an important role in present medical diagnosis. It provides information on fetal health status as well as the diagnosis of fetal treatment feasibility. The diagnosis can provide peace of mind for the perspective mother. Timely pregnancy termination diagnosis can also be determined if required. Amniocentesis and chorionic villus sampling are two widely used invasive prenatal diagnostic procedures. To obtain complete fetal genetic information and avoid endangering the fetus, noninvasive prenatal diagnosis has become the vital goal of prenatal diagnosis. However, the development of a high-efficiency separation technology is required to obtain the scarce fetal cells from maternal circulation. In recent years, the rapid development of microfluidic systems has provided an effective method for fetal cell separation. Advantages such as rapid analysis of small samples, low cost, and various designs, greatly enhance the efficiency and convenience of using microfluidic systems for cell separation. In addition, microfluidic disks can be fully automated for high throughput of rare cell selection from blood samples. Therefore, the development of microfluidic applications in noninvasive prenatal diagnosis is unlimited. Copyright © 2015. Published by Elsevier B.V.
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.
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
Ang, Marcus; Vasconcelos-Santos, Daniel V; Sharma, Kusum; Accorinti, Massimo; Sharma, Aman; Gupta, Amod; Rao, Narsing A; Chee, Soon-Phaik
Ocular tuberculosis remains a presumptive clinical diagnosis, as the gold standard tests for diagnosing ocular tuberculosis are often not useful: Mycobacterium tuberculosis cultures require weeks to process on Lowenstein-Jenson media and have low yield from ocular samples; while acid-fast bacilli smears or polymerase chain reaction detection of M. tuberculosis DNA have low sensitivities. Thus, diagnosis is often based on suggestive clinical signs, which are supported by positive investigations: tuberculin skin test or interferon-gamma release assays; chest X-ray findings suggestive of pulmonary tuberculosis, and/or evidence of associated systemic tuberculosis infections in the absence of other underlying disease. The aim of this review is to provide an update on the methods of diagnosing ocular tuberculosis, and discuss the challenges of its diagnosis. We also suggest a step-ladder approach to a more accurate diagnosis of ocular tuberculosis by combining the available diagnostic tests.
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)
Cardiovascular tertiary syphilis may lead to aortitis, aortic aneurism, coronary stenosis, aortic insufficiency and, rarely, to myocarditis. The physician must be familiar with the clinical presentations of this process, including the asymptomatic variety and must be able to have an organized plan for the diagnosis and evaluation to establish or exclude the presence of cardiovascular pathology and the differential diagnosis with other entities. Once the etiologic and topographic diagnosis is established, the patient should be treated with penicillin, doxicycline and other antibiotics, and the consequences of the disorder, both actual and potential, should be considered before deciding weather to recommend surgical intervention. Although late syphilis can be prevented by appropriate therapy of early syphilis, this is a cardiovascular disease that most likely will continue to be diagnosed lately. Understanding of the pathology and pathophysiology of the disease, is most important for its prompt recognition and subsequent management. This paper reviews the natural history, diagnosis and therapy of cardiovascular syphilis.
... patient is diagnosed. FTD patients exhibit behavioral and personality changes (lack of concern for social norms or ... detailed examinations of changes in cognition, behavior and personality, and neuroimaging studies. A pathological diagnosis is determined ...
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)
... ataxia to confirm a diagnosis or as a predictive test to determine if someone has inherited an ... person's ability to perform tasks requiring fine motor control such as writing and eating. Slow eye movements ...
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Dizziness, a common presenting symptom in the family physician's office, can present diagnostic problems. The landmark in diagnosis is the presence or absence of vertigo, which can be established by very simple methods, described in this article. PMID:21289669
Dizziness, a common presenting symptom in the family physician's office, can present diagnostic problems. The landmark in diagnosis is the presence or absence of vertigo, which can be established by very simple methods, described in this article.
... 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 ...
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.
Schoepke, Nicole; Doumoulakis, Georgios; Maurer, Marcus
Acute urticaria do not need extensive diagnostic procedures. Urticaria activity score is a useful tool for evaluation of urticaria. Complete blood count, Erythrocyte sedimentation rate and C reactive protein are important investigations for diagnosis of infections in urticaria. Autologous serum skin test is a simple office procedure for diagnosis of auto reactive urticaria. Closed ball point pen tip is a simple test to diagnose dermographism. PMID:23723473
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.
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. Copyright © 2014 Elsevier España, S.L. All rights reserved.
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.
Finlay, D.B.L.; Allen, M.J.
This book is about radiology of fractures. While it contains sections of clinical features it is not intended that readers should rely entirely upon these for the diagnosis and management of the injured patient. As in the diagnosis and treatment of all medical problems, fracture management must be carried out in a logical step-by-step fashion - namely, history, examination, investigation, differential diagnosis, diagnosis and then treatment. Each section deals with a specific anatomical area and begins with line drawings of the normal radiographs demonstrating the anatomy. Accessory views that may be requested, and the indications for these, are included. Any radiological pitfalls for the area in general are then described. The fractures in adults are then examined in turn, their radiological features described, and any pitfalls in their diagnosis discussed. A brief note of important clinical findings is included. A brief mention is made of pediatric fractures which are of significance and their differences to the adult pattern indicated. Although fractures can be classified into types with different characteristics, in life every fracture is individual. Fractures by and large follow common patterns, but many have variations.
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.
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.
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.
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
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
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
WIDIGER, THOMAS A
Every person has a characteristic manner of thinking, feeling, and relating to others. Some of these personality traits can be so dysfunctional as to warrant a diagnosis of personality disorder. The World Health Organization's International Classification of Diseases (ICD- 10) includes ten personality disorder diagnoses. Three issues of particular importance for the diagnosis of personality disorders are their differentiation from other mental disorders, from general personality functioning, and from each other. Each of these issues is discussed in turn, and it is suggested that personality disorders are more accurately and effectively diagnosed as maladaptive variants of common personality traits. PMID:16946918
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.
Infant reflux Diagnosis Your doctor will start with a physical exam and questions about your baby's symptoms. If your baby is ... or eggs from your diet if you're breast-feeding, to test if your baby has an allergy. ...
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…
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…
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.
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.
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…
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…
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.
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. Copyright © 2017 Elsevier España, S.L.U. and Sociedad Española de Enfermedades Infecciosas y Microbiología Clínica. All rights reserved.
Lewis-Fernández, Roberto; Aggarwal, Neil Krishan
Since the publication of DSM-IV in 1994, a number of components related to psychiatric diagnosis have come under criticism for their inaccuracies and inadequacies. Neurobiologists and anthropologists have particularly criticized the rigidity of DSM-IV 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. PMID:23816860
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.
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,…
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)
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
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
Quality of diagnosis in lymphoma is mostly conditioned by quality of initial biopsy. Fixed sections and immunohistochemistry are mandatory but frozen sections, molecular analysis and chromosomal studies are highly recommended. The goal of initial disease assessment is to determine prognostic factors that will guide treatment decision.
Our aim is to describe the current situation regarding the diagnosis and treatment of addiction in a variety of settings in Spain. Four-hundred and twenty-seven physicians known to treat addicted patients in non-private settings were recruited and agreed to participate. Each physician provided clinical and anonymous information on the first 6 consecutive patients who attended on a scheduled day. A total of 2361 patients were interviewed (92.1%) and data were obtained concerning gender, age, work, educational level, civil status, addiction diagnosis, type of treatment and psychiatric comorbidity. Seven-hundred and ninety-eight out of 2361 addicts (33.8%) presented with a dual diagnosis. Depression was the most prevalent disorder (21.6%), followed by anxiety disorders (11.7%). Comorbidity was found to be related to age, female gender, divorce and widowhood, and higher educational levels. Alcoholics who abused other drugs showed the highest rates of comorbidity (48.5%), while opiate addicts were at the lower end of the spectrum (27.4%). No differences were found related to the treatment setting, the doctor's medical specialty, or the geographical area. Finally, doctors tended to perceive that dual diagnosis was related to a worse psychiatric prognosis but not to higher relapse rates. Antidepressants were the most commonly prescribed drugs (62.4% of co-morbid patients) and anticraving agents were prescribed equally to comorbid and non-comorbid patients. Within the limitations of a descriptive study, our data show that comorbidity is a common clinical problem in patients who access addiction treatment. Affective and anxiety disorders are the most common comorbid diseases, and comorbidity rates seem to be unrelated to regional differences, medical settings or doctor's professional background. Dual diagnosis patients thus account for one third of the clinical workload of addiction specialists in Spain.
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.
Classification shapes medicine and guides its practice. Understanding classification must be part of the quest to better understand the social context and implications of diagnosis. Classifications are part of the human work that provides a foundation for the recognition and study of illness: deciding how the vast expanse of nature can be partitioned into meaningful chunks, stabilizing and structuring what is otherwise disordered. This article explores the aims of classification, their embodiment in medical diagnosis, and the historical traditions of medical classification. It provides a brief overview of the aims and principles of classification and their relevance to contemporary medicine. It also demonstrates how classifications operate as social framing devices that enable and disable communication, assert and refute authority, and are important items for sociological study.
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.
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.
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.
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.
Mann, Aneetinder; Tator, Charles H.; Carson, James D.
Abstract Objective To assess the knowledge of, attitudes toward, and learning needs for concussion diagnosis and management among family medicine residents. Design E-mail survey. Setting University of Toronto in Ontario. Participants Family medicine residents (N = 348). Main outcome measures To describe relationships between awareness of concussion management and lifestyle, education background, and residency placement, t tests and 2 tests were used as appropriate. Linear regression was used to compare self-reported concussion knowledge with knowledge scores. Thematic analysis was used to interpret answers to the qualitative question asking residents to describe challenges they foresee physicians facing when diagnosing and managing concussion. Results The residents who responded (n = 73, response rate 21%) correctly answered an average of 5.2 questions out of 9 (58%) regarding the diagnosis and management of concussion. Postgraduate year, sex, personal history of concussion, and clinical exposure to concussion were not significant factors in predicting the number of correct answers. Several misconceptions and knowledge gaps were revealed. Of residents who responded, 71% did not recognize chronic traumatic encephalopathy and only 63% recognized second-impact syndrome as consequences of repetitive concussions. Moreover, 32% of residents did not think that every individual with a concussion should see a physician as part of management. Knowledge scores did not predict self-reported concussion knowledge. Thematic analysis revealed 4 themes related to the challenges of concussion diagnosis and management: the nonspecificity and vagueness of symptoms, lack of formal diagnostic criteria, patient compliance with management, and counseling patients with respect to return to play, work, or learning. Conclusion We found substantial gaps in knowledge surrounding concussion diagnosis and management among family medicine residents. This lack of knowledge should be addressed at
Basu, Sanjay; Andrews, Jason R.
Rationale: Tuberculosis (TB) is characterized by a subclinical phase (symptoms absent or not considered abnormal); prediagnostic phase (symptoms noticed but diagnosis not pursued); and clinical phase (care actively sought). Diagnostic capacity during these phases is limited. Objectives: To estimate the population-level impact of TB case-finding strategies in the presence of subclinical and prediagnostic disease. Methods: We created a mathematical epidemic model of TB, calibrated to global incidence. We then introduced three prototypical diagnostic interventions: increased sensitivity of diagnosis in the clinical phase by 20% (“passive”); early diagnosis during the prediagnostic phase at a rate of 10% per year (“enhanced”); and population-based diagnosis of 5% of undiagnosed prevalent cases per year (“active”). Measurements and Main Results: If the subclinical phase was ignored, as in most models, the passive strategy was projected to reduce TB incidence by 18% (90% uncertainty range [UR], 11–32%) by year 10, compared with 23% (90% UR, 14–35%) for the enhanced strategy and 18% (90% UR, 11–28%) for the active strategy. After incorporating a subclinical phase into the model, consistent with population-based prevalence surveys, the active strategy still reduced 10-year TB incidence by 16% (90% UR, 11–28%), but the passive and enhanced strategies’ impact was attenuated to 11% (90% UR, 8–25%) and 6% (90% UR, 4–13%), respectively. The degree of attenuation depended strongly on the transmission rate during the subclinical phase. Conclusions: Subclinical disease may limit the impact of current diagnostic strategies for TB. Active detection of undiagnosed prevalent cases may achieve greater population-level TB control than increasing passive case detection. PMID:23262515
Clinical presentation of Wilson disease can vary widely; therefore diagnosis is not always straightforward. Wilson disease is not just a disease of children and young adults, but may present at any age. The key features of Wilson disease are liver disease and cirrhosis, neuropsychiatric disturbances, Kayser-Fleischer rings, and acute episodes of hemolysis, often in association with acute liver failure. Diagnosis is particularly difficult in children and in adults presenting with active liver disease. None of the available laboratory tests is perfect and may not be specific for Wilson disease. A detailed neurologic examination is required for all cases. Neuroimaging and electrophysiologic methods are helpful. To overcome the diagnostic challenge, several clinical signs (Kayser-Fleischer rings, neurologic symptoms) and laboratory features (copper in serum, urine, liver; serum ceruloplasmin; genetic testing) are scored 0 (absent) to 2 (present) and the Leipzig score is calculated. If the score is ≥4, the diagnosis of Wilson disease is very likely. For asymptomatic siblings of index patients, mutation analysis is the most reliable approach. © 2017 Elsevier B.V. All rights reserved.
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.
Vaginitis is one of the most common ambulatory problems to occur in women. It is a disorder responsible for > 10% of visits made to providers of women's health care. Although vaginal infections are the most common cause, other considerations include cervicitis, a normal vaginal discharge, foreign-body vaginitis, contact vaginitis, atrophic vaginitis, and desquamative inflammatory vaginitis. The medical history and examination are an important source of clues to the underlying diagnosis. However, making a definitive diagnosis requires skillful performance of office laboratory procedures, including the vaginal pool wet mount examination, determination of the vaginal pH, and the whiff test. Vaginal and cervical cultures, nucleic acid tests, and point-of-care tests are available and may be required in selected patients. Once a specific diagnosis is made, effective therapy can be prescribed. Candida vaginitis is generally treated with either the vaginal administration of an imidazole or triazole antifungal agent or the prescription of oral fluconazole. Oral nitroimidazole agents, metronidazole or tinidazole, are the only effective treatments for trichomoniasis in the United States. Bacterial vaginosis, which has been linked to important gynecologic and pregnancy complications, can be treated with an available oral or topical agent containing either a nitroimidazole or clindamycin.
Glina, Sidney; Cohen, David J; Vieira, Marcelo
Erectile dysfunction is a very prevalent condition and impairs quality of life of men and their partners. The diagnosis strategy of erectile dysfunction has changed, and it is important for every health professional to learn how to deal with erectile dysfunction. Although very prevalent, the sexual dysfunctions, including erectile dysfunction, continue to be underdiagnosed. Patients often expect physicians to initiate the conversation and ask about their troubles having sex. The routine to identify erectile dysfunction causes has undergone significant changes over the last decade. Identification of erectile dysfunction can be made through questionnaires or a complete medical and sexual history. Anamnesis and laboratory tests are sufficient in most cases to identify erectile dysfunction and to manage the treatment. Supplementary tests are used in special cases or when there is a need for an etiological diagnosis. Sexual function must be a part of every medical consultation, as any other body function. Erectile dysfunction diagnosis is not a complex task and can be accomplished by any physician. Even when the professional does not feel secure to treat erectile dysfunction, he or she can just identify the dysfunction and refer the patient to an expert.
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. Copyright © 2013 APA*
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
Van Sant, Ann F
This article presents the concept of movement system diagnoses (MSDxs), including an examination of the evolution of the ideas that are shaping the development of MSDxs. Ideas leading to development of the need for MSDxs are traced, and an overview of Diagnosis Dialog and points of consensus are provided. Four examples from areas of neurologic and pediatric practice where additional work is needed on movement system diagnosis are highlighted. The development and use of MSDxs are deemed critical to the future development of practice in pediatric and neurologic physical therapy. The prediction of treatment outcomes through research is dependent on homogeneous groups of patients with similar signs and symptoms of movement system disorders. Only by investigating homogeneous groups with refined MSDxs will it be possible to carefully examine and identify interventions that are appropriate to a specific diagnosis. Further, our ability to identify disordered movements, including inactivity and over-activity that could lead across time to disabling conditions presents a strong argument for establishing movement system diagnoses that forewarn of the risk of disordered movement poses to health. Such movement system diagnoses would guide interventions that deter the development of disabling conditions rooted in disordered movement.
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.
Lengyel, M; Tonelli, M
Three cases are presented to show examples of mistakes in the diagnosis and treatment of infective endocarditis which led to serious complications. The role of echocardiography in the early diagnosis and in the recognition of complications, the importance of bacteriologic diagnosis in the choice of antibiotic treatment and the need of timely surgical treatment are emphasized.
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. © 2016 John Wiley & Sons Ltd.
Das, Nilay Kanti; Sengupta, Sujit Ranjan
Diagnosis of arsenicosis relies on both clinical and laboratory criteria, but principally it can be diagnosed on the basis of its cutaneous manifestations. Cutaneous manifestations (melanosis, keratosis, and cutaneous cancers) are essential clues in the diagnosis, and trained dermatologists or arsenic experts are able to clinically confirm a case even without laboratory backup. Although systemic manifestations are not considered as diagnostic hallmarks, yet their presence serves as important telltale signs in arriving at the diagnosis. In countries where laboratory facilities are available, measuring the level of arsenic in drinking water (consumed in the last 6 months), urine, hair, and nails is of immense value. Newer biomarkers of arsenic exposure are being explored to provide early information about arsenic intoxication, of which urinary porphyrin level, blood metallothionein have shown promising results. Controlling the problem of arsenicosis depends on various factors, of which the most important is cessation of intake of arsenic-contaminated water. Deep wells, traditional dug wells, treatment of surface water, rainwater harvesting, and removing arsenic from the contaminated water by arsenic removal plant or arsenic treatment unit are the available options for providing arsenic-free drinking water. The role of nutrition and antioxidants in preventing the onset of symptoms of arsenicosis is also of importance. Nonspecific therapies (e.g., keratolytics for hyperkeratosis) cannot also be ignored and serve as palliative measures. The persons affected need to be followed up at regular intervals to detect the onset of cancers (if any) at the earliest. Role of counseling and education should never be underestimated since absence of public awareness can undermine all efforts of mitigation measures.
Jaeschke, Roman; Stevens, Scott M.; Goodacre, Steven; Wells, Philip S.; Stevenson, Matthew D.; Kearon, Clive; Schunemann, Holger J.; Crowther, Mark; Pauker, Stephen G.; Makdissi, Regina; Guyatt, Gordon H.
Background: Objective testing for DVT is crucial because clinical assessment alone is unreliable and the consequences of misdiagnosis are serious. This guideline focuses on the identification of optimal strategies for the diagnosis of DVT in ambulatory adults. Methods: The methods of this guideline follow those described in Methodology for the Development of Antithrombotic Therapy and Prevention of Thrombosis Guidelines: Antithrombotic Therapy and Prevention of Thrombosis, 9th ed: American College of Chest Physicians Evidence-Based Clinical Practice Guidelines. Results: We suggest that clinical assessment of pretest probability of DVT, rather than performing the same tests in all patients, should guide the diagnostic process for a first lower extremity DVT (Grade 2B). In patients with a low pretest probability of first lower extremity DVT, we recommend initial testing with D-dimer or ultrasound (US) of the proximal veins over no diagnostic testing (Grade 1B), venography (Grade 1B), or whole-leg US (Grade 2B). In patients with moderate pretest probability, we recommend initial testing with a highly sensitive D-dimer, proximal compression US, or whole-leg US rather than no testing (Grade 1B) or venography (Grade 1B). In patients with a high pretest probability, we recommend proximal compression or whole-leg US over no testing (Grade 1B) or venography (Grade 1B). Conclusions: Favored strategies for diagnosis of first DVT combine use of pretest probability assessment, D-dimer, and US. There is lower-quality evidence available to guide diagnosis of recurrent DVT, upper extremity DVT, and DVT during pregnancy. PMID:22315267
Wolfe, James D.; Simmons, Daniel H.
Hemoptysis is one of the most important symptoms of cardiopulmonary disease—first, because bleeding even in small amounts may indicate the presence of such serious diseases as bronchogenic carcinoma or active tuberculosis, and second, because untreated massive hemorrhage is associated with a high mortality rate. The cause of hemoptysis may be suggested by the history, physical examination or chest x-ray findings, but often diagnostic procedures such as bronchoscopy, bronchography and pulmonary angiography are needed for definitive diagnosis. The importance of early localization of the bleeding site and surgical intervention in patients with massive hemoptysis is stressed. PMID:919539
Lencastre, André; Lopes, Maria João Paiva
A 27 year-old-man, with no known personal or familial history of disease, mentioned a 10-year history of asymptomatic groups of telangiectasias, with a Blaschko lines distribution on the right lateral aspect of the neck and asymptomatic. He denied any episodes of disease or drug intake that could be associated with the disease. Blood work had no changes, namely of liver enzymes or infectious serologies. The clinical diagnosis of Idiopathic Acquired Unilateral Nevoid Telangiectasia was made, an uncommon, benign vascular malformation. The patient declined doing a cutaneous biopsy or treatment with a cosmetic intent. PMID:23739716
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.
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.
Osteoarthritis is a common degenerative disorder of the articular cartilage associated with hypertrophic bone changes. Risk factors include genetics, female sex, past trauma, advancing age, and obesity. The diagnosis is based on a history of joint pain worsened by movement, which can lead to disability in activities of daily living. Plain radiography may help in the diagnosis, but laboratory testing usually does not. Pharmacologic treatment should begin with acetaminophen and step up to nonsteroidal anti-inflammatory drugs. Exercise is a useful adjunct to treatment and has been shown to reduce pain and disability. The supplements glucosamine and chondroitin can be used for moderate to severe osteoarthritis when taken in combination. Corticosteroid injections provide inexpensive, short-term (four to eight weeks) relief of osteoarthritic flare-ups of the knee, whereas hyaluronic acid injections are more expensive but can maintain symptom improvement for longer periods. Total joint replacement of the hip, knee, or shoulder is recommended for patients with chronic pain and disability despite maximal medical therapy.
Ross, S.A.; Novak, Z.; Pati, S.; Boppana, S.B.
Cytomegalovirus (CMV) is recognized as the most common congenital viral infection in humans and an important cause of morbidity and mortality in immunocompromised hosts. This recognition of the clinical importance of invasive CMV disease in the setting of immunodeficiency and in children with congenital CMV infection has led to the development of new diagnostic procedures for the rapid identification of immunocompromised individuals with CMV disease, as well as fetuses and infants with congenital infection. Diagnosis of acute maternal CMV infection by the presence of IgM and low IgG avidity requires confirmation of fetal infection which is typically performed by CMV PCR of the amniotic fluid. Viral culture of the urine and saliva obtained within the first two weeks of life continue to be the gold standard for diagnosis of congenitally infected infants. PCR assays of dried blood spots from infants have not been shown to have sufficient sensitivity for the identification of most infants with congenital CMV infection. However, saliva PCR assays are currently being assessed as a useful screening method for congenital CMV infection. In the immunocompromised host, newer rapid diagnostic assays such as pp65 antigenemia and real-time CMV PCR of blood or plasma have allowed for preemptive treatment reducing morbidity and mortality. However, lack of standardized real-time PCR protocols hinders the comparison of the data across different centers and the development of uniform guidelines for the management of invasive CMV infections in immunocompromised individuals. PMID:21827433
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
Over the last decade, the use of ultrasound as a technique to look for pneumothorax has rapidly evolved. This review aims to analyze and synthesize current knowledge on lung ultrasound targeted at the diagnosis of pneumothorax. The technique and its usefulness in different scenarios are explained, and its merits over conventional radiology are highlighted. A systematic literature search (1995-2010) was performed, involving PubMed, to describe the more recent scientific evidence on the topic. Moreover, this review is also a synopsis of experts' opinion and personal clinical experience. Ultrasound diagnosis of pneumothorax relies on the recognition of four sonographic artifact signs: the lung sliding, the B lines, the lung point, and the lung pulse. Combining these few signs, it is possible to accurately rule in or rule out pneumothorax at the bedside in several different clinical scenarios. Sensitivity of a lung ultrasound in the detection of pneumothorax is higher than that of conventional anterior-posterior chest radiography, and similar to that of computerized tomography. A major benefit of a lung ultrasound is that it can be used quickly to diagnose pneumothorax at the bedside in any critical situation, like cardiac arrest and hemodynamically unstable patients. Moreover, it can be used to detect radio-occult pneumothorax and to quantify the extension of the air layer. Advantages in terms of reduced complexity, feasibility at the bedside, and absence of exposure to ionizing radiation make lung ultrasound the method of choice in several common clinical situations.
Tanyuksel, Mehmet; Petri, William A.
The detection of Entamoeba histolytica, the causative agent of amebiasis, is an important goal of the clinical microbiology laboratory. To assess the scope of E. histolytica infection, it is necessary to utilize accurate diagnostic tools. As more is discovered about the molecular and cell biology of E. histolytica, there is great potential for further understanding the pathogenesis of amebiasis. Molecular biology-based diagnosis may become the technique of choice in the future because establishment of these protozoa in culture is still not a routine clinical laboratory process. In all cases, combination of serologic tests with detection of the parasite (by antigen detection or PCR) offers the best approach to diagnosis, while PCR techniques remain impractical in many developing country settings. The detection of amebic markers in serum in patients with amebic colitis and liver abscess appears promising but is still only a research tool. On the other hand, stool antigen detection tests offer a practical, sensitive, and specific way for the clinical laboratory to detect intestinal E. histolytica. All the current tests suffer from the fact that the antigens detected are denatured by fixation of the stool specimen, limiting testing to fresh or frozen samples. PMID:14557296
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.
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.
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
For the diagnosis of amyloidosis, histological evidence of amyloid deposition is essential. Histologically, an amyloid deposit is stained orange red with Congo red and shows green birefringence under polarized light. When amyloidosis is clinically suspected, endoscopic biopsy of the stomach, duodenum or colon, or aspiration biopsy of abdominal fat is usually performed. If clinicians suspect amyloidosis, they should advise pathologists. Identification of the chemical type of amyloid is necessary with respect to treatment and prognosis. Immunohistochemical examination of amyloid in formalin-fixed, paraffin-embedded sections is simple to perform in most pathological laboratories. In Japan, almost all cases of systemic amyloidosis are classified as AL, AA, ATTR or Abeta2M amyloidosis, so the use of anti-immunoglobulin light chain, anti-amyloid A, anti-transthyretin and anti-beta2 microglobulin antibody is recommended for the classification of systemic amyloidosis. Formic acid pretreatment, which is often used for immunohistochemical detection of amyloidosis, is useful and easy for antigen retrieval. Amyloid deposits of AL amyloidosis are sometimes not immunostained well with commercial anti-immunoglobulin light chain antibody. Previously, we generated polyclonal antibodies against synthetic peptides corresponding to positions 118-134 of immunoglobulin lambda light chain and positions 116-133 of immunoglobulin kappa light chain. These antibodies are very useful for detecting AL amyloidosis because they react with amyloid deposits on formalin-fixed, paraffin-embedded specimens in almost all AL amyloidosis cases. Exact diagnosis and typing of amyloidosis are necessary for therapy.
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
Lang, Shih-Shan; Goldberg, Ethan; Zarnow, Deborah; Johnson, Mark P; Storm, Phillip B; Heuer, Gregory G
In recent literature, there have been case reports of prenatal diagnosis of hemimegalencephaly, an extremely rare entity characterized by enlargement of all or portions of 1 cerebral hemisphere and intractable seizures. A unique case is presented of hemimegalencephaly of a fetus diagnosed in utero. A 27-year-old woman presented at 32 weeks' gestation for fetal magnetic resonance imaging after an abnormal fetal ultrasound. Fetal magnetic resonance imaging showed hemimegalencephaly of the left cerebral hemisphere with abnormal gyration. The patient was born via cesarean section at 39 weeks' gestation. He had continuous infantile spasms and partial-onset seizures starting on day 1 of life, and electroencephalography showed burst suppression. The patient's seizures were initially managed with antiepileptics, prednisolone, and a ketogenic diet; however, he was hospitalized multiple times because of status epilepticus. At 6 months of age, he underwent a successful anatomic left hemispherectomy. In utero diagnosis of complex developmental brain anomalies allows a multidisciplinary approach to provide optimal prenatal patient treatment and parental counseling. Copyright © 2014 Elsevier Inc. All rights reserved.
Röh, A; Falkai, P; Hasan, A
Many patients with psychiatric and organic disorders may present primary or secondary psychotic symptoms. Based on the ICD 10 classification, this article describes the possible underlying diseases and their subdivision. The main focus will be differential-diagnostic evaluations of psychotic syndromes. In the clinical setting, the differential diagnosis of the paranoid schizophrenia and other psychotic disorders into three main disease groups is important: 1. other psychiatric diseases, 2. primary and secondary organic diseases and 3. autoimmune diseases. The first group contains, for example, drug-induced psychoses, affective disorders, personality disorders. The second group includes forms of dementia, forms of deliria or metabolic diseases. Recently, another focus is set on autoimmune diseases, especially encephalitides. A detailed medical history, a physical examination and organic diagnostic can lead to the correct diagnosis and therapy. The differential-diagnostic classification and the detection of organic causes is an important part of psychiatric care, but often a good cooperation with organic specialties is needed. © Georg Thieme Verlag KG Stuttgart · New York.
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.
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.
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.
Egan, M E; Lipsky, M S
Vaginitis is the most common gynecologic diagnosis in the primary care setting. In approximately 90 percent of affected women, this condition occurs secondary to bacterial vaginosis, vulvovaginal candidiasis or trichomoniasis. Vaginitis develops when the vaginal flora has been altered by introduction of a pathogen or by changes in the vaginal environment that allow pathogens to proliferate. The evaluation of vaginitis requires a directed history and physical examination, with focus on the site of involvement and the characteristics of the vaginal discharge. The laboratory evaluation includes microscopic examination of a saline wet-mount preparation and a potassium hydroxide preparation, a litmus test for the pH of vaginal secretions and a "whiff" test. Metronidazole is the primary treatment for bacterial vaginosis and trichomoniasis. Topical antifungal agents are the first-line treatments for candidal vaginitis.
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.
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
Martínez Hermosillo, A; Balderas Gil, A
In 5 years of experience at the Instituto Nacional de la Comunicacion Humana, 302 clinical histories showed the diagnosis of dyslexia. The following parameters were studied: age, sex, heredofamilial history, gestation, psychomotor development, clinical picture, examination of the language (type, reading, spontaneous writing, dictation, mathematic concepts), laterality, scholarship, scholar failures, psychological study. The following results were obtained: Dyslexia was more important or frequent between 5 to 8.9 years of age. Males predominated 3:1. The heredofamilial history was important. Dyslexia prevailed in products of the first gestations. A high disturbance was found in the psychomotor development of a large percent of dyslexic patients. Examination of language was also important. Dyslexia was more frequent in right-handed patients. Scholar failures in one or more instances were found. The psychological study must be done. If dyslexia is diagnosed on time, it may be prevented and all unwanted sequelae may be avoided.
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.
Wendt, Sebastian; Eder, Ines; Wölfel, Roman; Braun, Peggy; Lippmann, Norman; Rodloff, Arne
Background Botulism is a rare, life-threatening, time-critical neuroparalytic disease that is frequently a subject of differential diagnostic considerations. But there is much uncertainty regarding diagnosis and therapy. Rapid diagnosis, early antitoxin dose, consistent food hygiene and the sensitization of the population can help to reduce incidence, morbidity and mortality. Methods This overview is based on an epidemiological data inquiry (RKI, ECDC, CDC, WHO) and a selective literature research (pubmed till March 2017). Additionally, the German botulism guideline (2012) and own diagnostical experiences were taken into account. Results The incidence of botulinum toxin intoxication induced by ubiquitous spore-forming Clostridium botulinum (main representative) is < 0.01/100 000 EU citizens. Foodborne botulism is a pure intoxication syndrome (most common form) due to improperly prepared or incorrectly stored food. Wound and infant botulism are kinds of "toxico-infections". A "bulbar" neuroparalysis is a main symptom progressing to a flaccid tetraparesis up to respiratory paralysis. Infant botulism is presented non-specific and is treated only symptomatically; but a special human-derived antitoxin is available at international pharmacies. In case of suspected foodborne or wound botulism antitoxin must be administered as soon as possible, which may also be effective 24 hours after symptoms onset. There is no evidence for adjuvant treatment except of intensive care unit (ICU) therapy. Conclusion Despite typical symptomatology botulism is often diagnosed too late. Early antitoxin administration and ICU therapy are crucial for survival. A consultant laboratory should be contacted for advice. © Georg Thieme Verlag KG Stuttgart · New York.
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.
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
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.
Easterbrook, Philippa J; Roberts, Teri; Sands, Anita; Peeling, Rosanna
Chronic hepatitis B virus (HBV) and hepatitis C virus (HCV) infections and HIV-HBV and HCV coinfection are major causes of chronic liver disease worldwide. Testing and diagnosis is the gateway for access to both treatment and prevention services, but there remains a large burden of undiagnosed infection globally. We review the global epidemiology, key challenges in the current hepatitis testing response, new tools to support the hepatitis global response (2016-2020 Global Hepatitis Health Sector strategy, and 2017 WHO guidelines on hepatitis testing) and future directions and innovations in hepatitis diagnostics. Key challenges in the current hepatitis testing response include lack of quality-assured serological and low-cost virological in-vitro diagnostics, limited facilities for testing, inadequate data to guide country-specific hepatitis testing approaches, stigmatization of those with or at risk of viral hepatitis and lack of guidelines on hepatitis testing for resource-limited settings. The new Global Hepatitis Health Sector strategy sets out goals for elimination of viral hepatitis as a public health threat by 2030 and gives outcome targets for reductions in new infections and mortality, as well as service delivery targets that include testing, diagnosis and treatment. The 2017 WHO hepatitis testing guidelines for adults, adolescents and children in low-income and middle-income countries outline the public health approach to strengthen and expand current testing practices for viral hepatitis and addresses who to test (testing approaches), which serological and virological assays to use (testing strategies) as well as interventions to promote linkage to prevention and care. Future directions and innovations in hepatitis testing include strategies to improve access such as through use of existing facility and community-based testing opportunities for hepatitis testing, near-patient or point-of-care assays for virological markers (nucleic acid testing and HCV
Easterbrook, Philippa J.; Roberts, Teri; Sands, Anita; Peeling, Rosanna
Purpose of review Chronic hepatitis B virus (HBV) and hepatitis C virus (HCV) infections and HIV–HBV and HCV coinfection are major causes of chronic liver disease worldwide. Testing and diagnosis is the gateway for access to both treatment and prevention services, but there remains a large burden of undiagnosed infection globally. We review the global epidemiology, key challenges in the current hepatitis testing response, new tools to support the hepatitis global response (2016–2020 Global Hepatitis Health Sector strategy, and 2017 WHO guidelines on hepatitis testing) and future directions and innovations in hepatitis diagnostics. Recent findings Key challenges in the current hepatitis testing response include lack of quality-assured serological and low-cost virological in-vitro diagnostics, limited facilities for testing, inadequate data to guide country-specific hepatitis testing approaches, stigmatization of those with or at risk of viral hepatitis and lack of guidelines on hepatitis testing for resource-limited settings. The new Global Hepatitis Health Sector strategy sets out goals for elimination of viral hepatitis as a public health threat by 2030 and gives outcome targets for reductions in new infections and mortality, as well as service delivery targets that include testing, diagnosis and treatment. The 2017 WHO hepatitis testing guidelines for adults, adolescents and children in low-income and middle-income countries outline the public health approach to strengthen and expand current testing practices for viral hepatitis and addresses who to test (testing approaches), which serological and virological assays to use (testing strategies) as well as interventions to promote linkage to prevention and care. Summary Future directions and innovations in hepatitis testing include strategies to improve access such as through use of existing facility and community-based testing opportunities for hepatitis testing, near-patient or point-of-care assays for
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).
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
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
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.
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.
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.
Proulx, Anne M; Zryd, Teresa W
Costochondritis, an inflammation of costochondral junctions of ribs or chondrosternal joints of the anterior chest wall, is a common condition seen in patients presenting to the physician's office and emergency department. Palpation of the affected chondrosternal joints of the chest wall elicits tenderness. Although costochondritis is usually self-limited and benign, it should be distinguished from other, more serious causes of chest pain. Coronary artery disease is present in 3 to 6 percent of adult patients with chest pain and chest wall tenderness to palpation. History and physical examination of the chest that document reproducible pain by palpation over the costal cartilages are usually all that is needed to make the diagnosis in children, adolescents, and young adults. Patients older than 35 years, those with a history or risk of coronary artery disease, and any patient with cardiopulmonary symptoms should have an electrocardiograph and possibly a chest radiograph. Consider further testing to rule out cardiac causes if clinically indicated by age or cardiac risk status. Clinical trials of treatment are lacking. Traditional practice is to treat with acetaminophen or anti-inflammatory medications where safe and appropriate, advise patients to avoid activities that produce chest muscle overuse, and provide reassurance.
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.
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.
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.
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.
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.
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.
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.
Lizcano Gil, Luis Arturo; Lucena, Carolina; Lucena, Elkin
Preimplantation genetic diagnosis (PGD) is a new strategy, orientated toward primary prevention of congenital anomalies in couples with reproductive risk, such as advanced maternal age, carriers of chromosomal abnormalities, and carriers of monogenic conditions. For these patients, PGD is an acceptable alternative to prenatal diagnosis, mainly in those countries where pregnancy interruption is forbidden by law. PGD effectively avoids the implications linked to traditional prenatal diagnosis. Centres that provide medical servicies on reproductive biomedicine are responsible for the development and improvement of this new prevention strategy. Thanks to advances in micromanipulation techniques, associated with recent progress in molecular genetics, PGD may be employed for any genetic condition in the future.
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.
Dietrich, A; Ruzicka, T; Hermans, C
Dermatologic disorders often show involvement of the (peri)anal skin. However, diagnosis of (peri)anal dermatoses is often difficult even for experienced dermatologists due to delayed clinical presentation or prior treatment with over-the-counter medications. The distinct anatomical conditions of the (peri)anal region results in atypical clinical presentation of common dermatoses. Typical symptoms include pruritus, burning, bleeding and pain. Careful history of symptoms, stool, hygiene, sexual practice as well as thorough inspection of the entire body and proctological examination are crucial to make the correct diagnosis. In case of atypical presentation or uncertainty a biopsy needs to be obtained to ensure correct diagnosis and treatment.
Shoemaker, Joyce K.
Arguments supporting theoretical analysis, clinical applications, and research of nursing diagnoses in master's degree programs are discussed. Curriculum considerations and an example of an integrated approach to the inclusion of nursing diagnosis in a graduate curriculum are presented. (MSE)
Auerbach, Arleen D.
Fanconi anemia (FA) is a genetically and phenotypically heterogeneous recessive disorder characterized by diverse congenital malformations, progressive pancytopenia, and predisposition to both hematologic malignancies and solid tumors. Congenital anomalies vary from patient to patient and may affect skeletal morphogenesis as well as any of the major organ systems. Although this highly variable phenotype makes accurate diagnosis on the basis of clinical manifestations difficult in some patients, laboratory study of chromosomal breakage induced by diepoxybutane (DEB) or other crosslinking agents provides a unique cellular marker for the diagnosis of the disorder either prenatally or postnatally. Diagnosis based on abnormal response to DNA crosslinking agents can be used to identify the pre-anemia patient as well as patients with aplastic anemia or leukemia who may or may not have the physical stigmata associated with the syndrome. This overview will present our present knowledge regarding the varied phenotypic manifestations of FA and procedures for diagnosis based upon abnormal DNA damage responses. PMID:19622403
... 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 ...
... Story: Traumatic Brain Injury TBI Symptoms, Diagnosis, Treatment, Prevention Past Issues / Fall 2008 Table of Contents For ... remove ruptured blood vessels or bruised brain tissue Prevention To prevent head injury and reduce the risk ...
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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.
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.
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.
Liesman, Rachael M; Pritt, Bobbi S; Maleszewski, Joseph J; Patel, Robin
Infective endocarditis is life-threatening; identification of the underlying etiology informs optimized individual patient management. Changing epidemiology, advances in blood culture techniques, and new diagnostics guide the application of laboratory testing for diagnosis of endocarditis. Blood cultures remain the standard test for microbial diagnosis, with directed serological testing (i.e., Q fever serology, Bartonella serology) in culture-negative cases. Histopathology and molecular diagnostics (e.g., 16S rRNA gene PCR/sequencing, Tropheryma whipplei PCR) may be applied to resected valves to aid in diagnosis. Herein, we summarize recent knowledge in this area and propose a microbiologic and pathological algorithm for endocarditis diagnosis. Copyright © 2017 American Society for Microbiology.
Chan, Susan M H; Dumitru, Catalina; Turcanu, Victor
Peanut allergy prevalence has increased in developed countries over the last few decades in the frame of the allergy epidemics, currently affecting 1-2% of children. While less frequent in developing countries, its prevalence is rising as these countries adopt a more westernized lifestyle. There is no curative treatment for peanut allergy at present so patient management relies on peanut avoidance, which requires an accurate diagnosis. Recent progress in peanut allergy diagnosis was made with the introduction of component resolved diagnosis that allows the assessment of IgE specific to individual peanut allergens. Component-resolved diagnosis needs to be interpreted in the context of clinical data but overall increases the diagnostic accuracy, as described in the typical cases that we present. Novel diagnostic tools have been proposed recently, such as the basophil activation test, mRNA expression and resonance magnetic evaluation of biomarkers.
... Management Education & Events Advocacy For Patients About ACOG Cystic Fibrosis: Prenatal Screening and Diagnosis Home For Patients Search ... Screening and Diagnosis FAQ171, June 2017 PDF Format Cystic Fibrosis: Prenatal Screening and Diagnosis Pregnancy What is cystic ...
... a Sleep Apnea Diagnosis Getting a Sleep Apnea Diagnosis If you suspect that you have sleep apnea, ... policy offers limited or no coverage for the diagnosis and treatment of sleep apnea, in which case ...
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.
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.
Cheah, W K
Thyroid cancer is the ninth most common cancer in women in Singapore. Despite an increasing incidence of thyroid cancer in the last few decades, survival has improved due to a combination of early cytological diagnosis, low-morbidity total thyroidectomy, and postoperative radioactive iodine therapy. Thyroid cancer is one of the most curable forms of cancer. This article provides an overview of thyroid cancer and future directions in its diagnosis and treatment.
Yawn, Barbara P; Barrette, Brigitte A; Wollan, Peter C
To investigate presenting signs and symptoms of ovarian cancer and stage of tumor in a community cohort of women with the diagnosis of ovarian cancer. We reviewed retrospectively the medical records of all women who sought primary and specialty care in Olmsted County, Minnesota, between January 1, 1985, and December 31, 1997, to evaluate presenting symptoms, time from first symptom to diagnosis of ovarian cancer, and stage of tumor at diagnosis. Of 107 women with a diagnosis of ovarian cancer, the most commonly documented presenting symptom was crampy abdominal pain. Urinary symptoms and abdominal pain were the most commonly documented presenting symptom in patients with stage I and II ovarian cancers, whereas abdominal pain and increased abdominal girth were the most commonly documented symptoms in patients with stage III and IV cancer. Approximately 15% of tumors (n = 15) were found during routine evaluations or during a procedure for another problem. Less than 25% of presenting symptoms (n = 24 women) related directly to the pelvis or were more traditional gynecologic symptoms. Delays in women seeking medical care, health care system issues, competing medical conditions, physicians' failure to follow up, and women not returning for follow-up were associated with longer time to diagnosis. Both stage I and II cancer are associated with symptoms, but few symptoms are directly related to the reproductive pelvic organs or unique to ovarian cancer. A longer interval from first sign or symptom to diagnosis of ovarian cancer is associated with both patient and health care system factors.
Langner, Sönke; Fleck, Steffen; Baldauf, Jörg; Mensel, Birger; Kühn, Jens Peter; Kirsch, Michael
Purpose Hydrocephalus is caused by an imbalance of production and absorption of cerebrospinal fluid (CSF) or obstruction of its pathways, resulting in ventricular dilatation and increased intracranial pressure. Imaging plays a crucial role in the diagnosis, differential diagnosis and planning of treatment. Methods This review article presents the different types of hydrocephalus und their typical imaging appearance, describes imaging techniques, and discusses differential diagnoses of the different forms of hydrocephalus. Results and Conclusion Imaging plays a central role in the diagnosis of hydrocephalus. While magnetic resonance (MR) imaging is the first-line imaging modality, computed tomography (CT) is often the first-line imaging test in emergency patients. Key points · Occlusive hydrocephalus is caused by obstruction of CSF pathways.. · Malabsorptive hydrocephalus is caused by impaired CSF absorption.. · The MR imaging protocol should always include sagittal high-resolution T2-weighted images.. · When an inflammatory etiology is suspected, imaging with contrast agent administration is necessary.. Citation Format · Langner S, Fleck S, Baldauf J et al. Diagnosis and Differential Diagnosis of Hydrocephalus in Adults. Fortschr Röntgenstr 2017; 189: 728 - 739. © Georg Thieme Verlag KG Stuttgart · New York.
Rao, P M; Rhea, J T; Novelline, R A
To quantify how frequently mesenteric adenitis clinically mimics appendicitis and to determine its appearance at computed tomography (CT). The medical records of 651 consecutive patients with an admission diagnosis of appendicitis were reviewed to determine how often mesenteric adenitis was the discharge diagnosis. The CT scans of a separate group of 18 patients with a discharge diagnosis of mesenteric adenitis were reviewed. These patients were part of a group of 100 consecutive patients prospectively evaluated with CT of the appendix for clinically suspected appendicitis. Fifty of 651 patients (7.7%) with an admission diagnosis of appendicitis had a discharge diagnosis of mesenteric adenitis. Mesenteric adenitis constituted 50 of the 252 (19.8%) discharge diagnoses other than appendicitis. All 18 CT scans of mesenteric adenitis showed three or more nodes that measured at least 5 mm in shortest axis clustered in the right lower quadrant, with a normal appendix identified. Eight patients had associated ileal or ileocecal wall thickening. Mesenteric adenitis is an important clinical mimic of appendicitis. It appears at CT as clustered, enlarged mesenteric lymph nodes with a normal appendix, and there may be associated ileitis or ileocolitis noted.
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.
Bergmann, Michèle; Llewellyn, Julia-Rebecca; Hartmann, Katrin
Rapid confirmation of the diagnosis leptospirosis is important in order to apply appropriate treatment; in addition, infected dogs are a zoonotic risk. Culture and isolation of living leptospires from blood, urine, or tissues is considered the reference standard of diagnosis. However, sensitivity are low, and leptospires require weeks to months to grow. Therefore, diagnosis of leptospirosis is most commonly based on antibody testing or the detection of Leptospira spp. DNA by PCR. Microscopic agglutination test (MAT) is currently still the recommended confirmatory test for canine leptospirosis, despite its numerous limitations (e. g., negative results in early infection, positive results due to vaccine-associated antibodies). ELISA can differentiate between IgG and IgM antibodies and thus, discriminate current infections from previous vaccination or exposure. Point-of-care tests and in-house-PCR tests have recently been developed for use in private practice allowing easy and immediate diagnosis. However, only few data on sensitivity and specificity of these tests exist so far. A reliable diagnosis can only be established in case of a positive PCR result or a fourfold titre increase in MAT.
Belousova, E D; Dorofeeva, M Yu; Pivovarova, A M; Katusheva, O V
Tuberous sclerosis complex is a autosomal dominant instantly progressing disease, causing the development of benign tumors in all organs and tissues of human body. According to International Consensus Conference (2012), definite or possible TSC diagnosis can be made. For the definite diagnosis of TSC, two major criteria or one major criterion and ≥2 minor criteria have to be present. For a possible diagnosis, 1 major criterion or ≥2 minor criteria should be found. A pathogenic mutation in the TSC1 or TSC2 gene is by itself sufficient for a definite diagnosis. There are following major diagnostic criteria: angiofibromas (≥3) or forehead plaque; hypomelanotic macules (≥3); ungual fibromas (≥2); chagrin patch; multiple retinal hamartomas; cortical dysplasias (≥3, include tubers and cerebral white matter radial migration lines; subependymal nodules; subependymal giant cell astrocytoma; cardiac rhabdomyoma; lymphagioleiomatosis and renal angiomyolipomas (≥2). The minor criteria are the following ones: dental enamel pits (≥3); intraoral fibromas (≥2); non-renal hamartomas; retinal achromatic patch; confetti skin lesions; multiple renal cysts. Diagnosis of TSC is not difficult if a physician is familiar with clinical presentation of the disease.
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."
Navarro, V; Fischer, C; Convers, P
The diagnosis of status epilepticus can be retained, wrongly, in several circumstances. Nonepileptic pseudoseizures from a psychiatric origin and some movement disorders can mimic convulsive status epilepticus. Encephalopathy of various causes (post-anoxic, metabolic, toxic, Creutzfeldt-Jakob disease) can be wrongly taken for non-convulsive status epilepticus, mainly due to inadequate interpretation of the electroencephalogram (EEG). In these encephalopathies, the existence of (non-epileptic) myoclonus and the abolition of the EEG abnormalities with the use of a benzodiazepine (without correction of the clinical symptoms) are additional confounding factors, leading to false diagnosis. Nevertheless, in general, the diagnosis of status epilepticus can be confirmed or rejected base on a combined analysis of the clinical data and the EEG.
Nikiforov, Vladimir V; Gao, He; Zhou, Lei; Anisimov, Andrey
Plague still poses a significant threat to human health and as a reemerging infection is unfamiliar to the majority of the modern medical doctors. In this chapter, the plague is described according to Dr. Nikiforov's experiences in the diagnosis and treatment of patients, and also a review of the relevant literature on this subject is provided. The main modern methods and criteria for laboratory diagnosis of plague are briefly described. The clinical presentations include the bubonic and pneumonic form, septicemia, rarely pharyngitis, and meningitis. Early diagnosis and the prompt initiation of treatment reduce the mortality rate associated with bubonic plague and septicemic plague to 5-50 %; although a delay of more than 24 h in the administration of antibiotics and antishock treatment can be fatal for plague patients. Most human cases can successfully be treated with antibiotics.
Failure diagnosis invariably involves consideration of both associated material condition and the results of a mechanical analysis of prior operating history. This Review focuses on these aspects with particular reference to creep-fatigue failure diagnosis. Creep-fatigue cracking can be due to a spectrum of loading conditions ranging from pure cyclic to mainly steady loading with infrequent off-load transients. These require a range of mechanical analysis approaches, a number of which are reviewed. The microstructural information revealing material condition can vary with alloy class. In practice, the detail of the consequent cracking mechanism(s) can be camouflaged by oxidation at high temperatures, although the presence of oxide on fracture surfaces can be used to date events leading to failure. Routine laboratory specimen post-test examination is strongly recommended to characterise the detail of deformation and damage accumulation under known and well-controlled loading conditions to improve the effectiveness and efficiency of failure diagnosis. PMID:28793676
Failure diagnosis invariably involves consideration of both associated material condition and the results of a mechanical analysis of prior operating history. This Review focuses on these aspects with particular reference to creep-fatigue failure diagnosis. Creep-fatigue cracking can be due to a spectrum of loading conditions ranging from pure cyclic to mainly steady loading with infrequent off-load transients. These require a range of mechanical analysis approaches, a number of which are reviewed. The microstructural information revealing material condition can vary with alloy class. In practice, the detail of the consequent cracking mechanism(s) can be camouflaged by oxidation at high temperatures, although the presence of oxide on fracture surfaces can be used to date events leading to failure. Routine laboratory specimen post-test examination is strongly recommended to characterise the detail of deformation and damage accumulation under known and well-controlled loading conditions to improve the effectiveness and efficiency of failure diagnosis.
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.
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.
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. Copyright © 2014 Elsevier España, S.L. All rights reserved.
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
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
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.
Li, Hong-Yu; Cui, Zhong-Min; Chen, Jiang; Guo, Xiao-Zhong; Li, Ying-Yi
Pancreatic cancer is one of the deadliest cancers, with exceptionally high mortality. Despite the relatively low incidence rate (10th), it is the fourth leading cause of cancer-related deaths in most developed countries. To improve the early diagnosis of pancreatic cancer and strengthen the standardized comprehensive treatment are still the main focus of pancreatic cancer research. Here, we summarized the rapid developments in the diagnosis and treatments of pancreatic cancer. Regarding diagnosis, we reviewed advances in medical imaging technology, tumor markers, molecular biology (e.g., gene mutation), and proteomics. Moreover, great progress has also been made in the treatments of this disease, including surgical resection, chemotherapy, targeted radiotherapy, targeted minimally invasive treatment, and molecular targeted therapy. Therefore, we also recapitulated the development, advantages, and disadvantages of each of the treatment methods in this review.
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.
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.
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…
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. PMID:27035407
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
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.
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.
Gerwin, Robert D
Myofascial pain is one of the most common causes of pain. The diagnosis of myofascial pain syndrome (MPS) is made by muscle palpation. The source of the pain in MPS is the myofascial trigger point, a very localized region of tender, contracted muscle that is readily identified by palpation. The trigger point has well-described electrophysiologic properties and is associated with a derangement of the local biochemical milieu of the muscle. A proper diagnosis of MPS includes evaluation of muscle as a cause of pain, and assessment of associated conditions that have an impact on MPS. Copyright © 2014 Elsevier Inc. All rights reserved.
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
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
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.
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.
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.
Ip, Ho-Wan; So, Chi-Chiu
Thalassemia is the most common monogenic inherited disease worldwide and it affects most countries to various extents. This review summarizes the current approaches to phenotypic and genotypic diagnosis of thalassemia in clinical practice. Prevention strategies that encompass carrier screening, genetic counseling and prenatal diagnosis are discussed. The importance of public education and an awareness of a changing perception regarding this group of diseases are emphasized. It also addresses the impact of the rapidly increasing knowledge in disease severity modification by hemoglobin F (Hb F).
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."
Nasseri, Yosef Y; Osborne, Marc C
Pruritus ani is a common condition with multiple causes. Primary causes are thought to be fecal soiling or food irritants. Secondary causes include malignancy, infections including sexually transmitted diseases, benign anorectal diseases, systemic diseases, and inflammatory conditions. A broad differential diagnosis must be considered. A reassessment of the diagnosis is required if symptoms or findings are not responsive to therapy. The pathophysiology of itching, an overview of primary and secondary causes, and various treatment options are reviewed. Copyright © 2013 Elsevier Inc. All rights reserved.
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.
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.…
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. Copyright © 2014 Elsevier Inc. All rights reserved.
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.…
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…
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.
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…
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.…
Rapid detection and accurate identification of low (LPAI) and high pathogenicity avian influenza (HPAI) is critical to controlling infections and disease in poultry. Test selection and algorithms for the detection and diagnosis of avian influenza virus (AIV) in poultry may vary somewhat among differ...
Munroe, D. S.; Rally, C. R.
The diagnosis of classical mitral stenosis is easy, but many pitfalls lead to over-diagnosis or under-diagnosis. These have been considered in detail and variations in symptoms and signs have been illustrated by case histories. Such variations include: (1) Embolism producing the Leriche syndrome; (2) mitral stenosis with insignificant hemodynamic effect; (3) myxoma masquerading as mitral stenosis; (4) mitral stenosis without apical murmurs, and (5) mitral stenosis with a systolic murmur predominant or alone. In cases of combined mitral and aortic stenosis, the history, radiographic configuration, and incidence of hemoptysis, edema, bronchitis, embolism and atrial fibrillation resemble such findings in cases of isolated mitral stenosis, but the auscultatory signs of the latter may be obscured. The degree of aortic stenosis is difficult to determine in cases of combined stenosis. In the diagnosis of re-stenosis the condition of the valve at the first commissurotomy, the precise procedure performed and the degree of regurgitation produced are of prime importance. Congenital mitral stenosis is rare and is associated with a high incidence of other defects. PMID:13936649
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…
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.
This paper discusses and recommends diagnosis and remediation procedures in teaching pupils in the area of reading. The first section of the paper addresses diagnostic emphasis in reading and discusses individualized reading, experience charts, and 5 recommendations for teaching phonics. The next section discusses basal readers, argues that good…
From an intelligent system for a computer supported medical diagnosis it is expected to achieve high accuracy and ability to draw conclusions from a small data sets. Medical practice could takes many years to generate a large database. A new mathematical method that is able to learn on a small data set is presented.
... 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 ...
... before a diagnosis can be made: A detailed medical history will be needed and should include a review of medications that could be causing the fatigue and symptoms A thorough physical and mental status examination will also be needed A battery of laboratory screening tests will be needed to ...
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.
Durham, Catherine O; Fowler, Terri; Smith, Whitney; Sterrett, James
Adult asthma is a prevalent chronic medical condition that is associated with high morbidity, mortality, and cost. Early identification, evidence-based diagnosis, and step-wise management can lead to improvements in patient outcomes, decrease exacerbations, and eliminate respiratory function decline as the patient ages.
Du, Yan; Yang, Xiaoxia; Song, Hong; Chen, Bo; Li, Lin; Pan, Yue; Wu, Qiong; Li, Jia
Objective: To identify global research trends in neuroimaging diagnosis for cerebral infarction using a bibliometric analysis of the Web of Science. Data Retrieval: We performed a bibliometric analysis of data retrieval for neuroimaging diagnosis for cerebral infarction containing the key words “CT, magnetic resonance imaging, MRI, transcranial Doppler, transvaginal color Doppler, digital subtraction angiography, and cerebral infarction” using the Web of Science. Selection Criteria: Inclusion criteria were: (a) peer-reviewed articles on neuroimaging diagnosis for cerebral infarction which were published and indexed in the Web of Science; (b) original research articles and reviews; and (c) publication between 2004–2011. Exclusion criteria were: (a) articles that required manual searching or telephone access; and (b) corrected papers or book chapters. Main Outcome Measures: (1) Annual publication output; (2) distribution according to country; (3) distribution according to institution; (4) top cited publications; (5) distribution according to journals; and (6) comparison of study results on neuroimaging diagnosis for cerebral infarction. Results: Imaging has become the predominant method used in diagnosing cerebral infarction. The most frequently used clinical imaging methods were digital subtraction angiography, CT, MRI, and transcranial color Doppler examination. Digital subtraction angiography is used as the gold standard. However, it is a costly and time-consuming invasive diagnosis that requires some radiation exposure, and is poorly accepted by patients. As such, it is mostly adopted in interventional therapy in the clinic. CT is now accepted as a rapid, simple, and reliable non-invasive method for use in diagnosis of cerebrovascular disease and preoperative appraisal. Ultrasonic Doppler can be used to reflect the hardness of the vascular wall and the nature of the plaque more clearly than CT and MRI. Conclusion: At present, there is no unified standard of
To examine the importance of good communication when informing the patient of the diagnosis of migraine; to review the essentials of successful communication between physician and patient on the aspect of diagnosis; to survey learning resources for physicians on communicating information to patients. This paper is based on observations made by the author of the successful interactions of numerous international "headache experts" with their patients, on a review of the medical education literature pertaining to the teaching of communication skills, and on 30 years of not always successful communication with patients. Communicating the diagnosis of migraine is an opportunity to educate and reassure the patient, to lay the foundation for rational treatment and to help establish the successful doctor-patient relationship which is essential for effective management. No matter how accurate the diagnosis, failure to communicate it effectively to the patient (and often to significant others) may impair interactions with the patient and compromise therapy. Effective communication of a diagnosis requires clarity, relevance to the patient, a positive attitude, and reinforcement through repetition, questioning and dialogue. In terms of using the diagnosis to lay a foundation for therapy, it is useful to explain the symptoms as transient physical dysfunction of normal tissues, to indicate that there are multiple mechanisms underlying the dysfunction of which only some may presently be susceptible to treatment and to stress the relevance of emotions as factors which may powerfully affect, for better or worse, the underlying disturbed physiology of migraine. Into this model can be "plugged" all the relevant therapies for migraine. This is the ideal, but every day experience in the headache consultant's office suggest that in both primary care and specialist practice, it is infrequently attained. There are scant resources other than example for physicians to learn communication of
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.
Gualdi, G; Di Biasi, C; Polettini, E; Rojas, M; Melone, A; D'Amico, D; Caprasecca, S
Vertebral fractures are a relevant problem for the heavy clinical implications and carrying disability. Vertebral fractures can be traumatic or pathologic, the latter can be benign or malignant, both mostly frequent in the elderly. An initial approach to this issue can use plain radiographs, but the correct extension and evaluation must involve CT and MR imaging. In particular MR is a useful tool for the prognostic evaluation of spine marrow injuries and the differential diagnosis of osteoporotic and metastatic fractures.
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.
De Boeck, Kris; Vermeulen, Francois; Dupont, Lieven
Establishing the diagnosis of cystic fibrosis (CF) is straight forward in the majority of patients: they present with a clear clinical picture (most frequently chronic respiratory symptoms plus malabsorption), the sweat chloride value is>60mmol/L and two known disease causing CFTR mutations are identified. In less than 5% of subjects, mainly those with a milder or limited phenotype, the diagnostic process is more complex, because initial diagnostic test results are inconclusive: sweat chloride concentration in the intermediate range, less than 2 CF causing mutations identified or both. These patients should be referred to expert centers where bioassays of CFTR function like nasal potential difference measurement or intestinal current measurement can be done. Still, in some patients, despite symptoms compatible with CF and some indication of CFTR dysfunction (e.g. only intermediate sweat chloride value), diagnostic criteria are not met (e.g. only 1 CFTR mutation identified). For these subjects, the term CFTR related disorder (CFTR-RD) is used. Patients with disseminated bronchiectasis, congenital bilateral absence of the vas deferens and acute or recurrent pancreatitis may fall in this category. CF has a very wide disease spectrum and increasingly the diagnosis is being made during adult life, mainly in subjects with milder phenotypes. In many countries, nationwide CF newborn screening (NBS) has been introduced. In screen positive babies, the diagnosis of CF must be confirmed by a sweat test demonstrating a sweat chloride concentration above 60mmol/L. To achieve the benefit of NBS, every baby in whom the diagnosis of CF is confirmed must receive immediate follow-up and treatment in a CF reference center. CF NBS is not full proof: some diagnoses will be missed and in some babies the diagnosis cannot be confirmed nor ruled out with certainty. Screening algorithms that include gene sequencing will detect a high number of such babies that are screen positive with an
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.
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.
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
Asencio-Duran, Mónica; Vallejo-Garcia, José Luis; Pastora-Salvador, Natalia; Fonseca-Sandomingo, Agustín; Romano, Mario R.
Vitreous body is an intraocular structure, origin of diverse pathologies, but is also the place where cells and inflammatory mediators are released coming from several pathologic processes. These inflammatory reactions can happen in any other ocular location like choroid, retina, optic nerve, or ciliary body and vitreous humor constitutes a stagnant reservoir for these resulting substances and debris. Through the recent techniques of vitreous collecting, handling, and analysis, increasingly more sophisticated and with fewer complications, cellularity and molecules in the vitreous of challenging pathologies for the ophthalmologist can now be studied. The most usefulness for vitreous diagnosis would be the masquerade syndromes, and the best exponent in this group is the primary vitreoretinal lymphoma (PVRL), in which cytology and an IL-10/IL-6 ratio more than 1 is fundamental for the diagnosis. PMID:23055575
Edell, S.L.; Milunsky, C.; Garren, L.
The diagnosis of a cholecystocolic fistula has often presented a dilemma to the practicing physician. Routine imaging modalities to confirm this diagnosis have not proven extremely successful. The presence of a small fistulous tract from the gallbladder to the colon is often difficult to demonstrate radiographically. However, with the advent of the newer hepatobiliary radioisotopic scanning agents, the ability to visualize the intrahepatic and extrahepatic bile ducts as well as the presence of the intestinal activity of the radiotracers has improved considerably. The authors present a case of cholecystocolic fistula that was adequately demonstrated with a Tc-99m-PIPIDA hepatobiliary scan. This article is the first to report demonstration of this type of fistula with hepatobiliary scanning.
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
Acute arthritis can first present as a symptom of dangerous and rapidly progressing disease. It is quite easy to differentiate between arthritis and periarthritis. More problematical is correct early differential diagnosis of the acute arthritis. Determining whether one, several or many joints are affected can narrow the diagnostic possibilities. Arthrocentesis and synovial fluid testing provide much information and should be done at initial evaluation if possible. The presence or absence of fever, rash, family history of joint disease and exposure to infective organisms can further direct diagnostic studies and treatment. In general, to avoid masking clues, drug therapy should be delayed for mild symptoms until diagnosis is complete. This article is designed mostly for primary care physicians, residents and includes author's original data and review of recommended reading.
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.
Paschoal, Regina Célia; Hirata, Mário Hiroyuki; Hirata, Rosário Crespo; Melhem, Márcia de Souza Carvalho; Dias, Amanda Latercia Tranches; Paula, Claudete Rodrigues
Cryptococcus neoformans detection was optimized using PCR technique with the objective of application in the clinical laboratory diagnosis. The amplification area was ITS and 5,6S which encodes the ribosomal RNA (rRNA). A total of 72 cerebrospinal fluid (CSF) samples were used, obtained from cases with and without AIDS. The patients had cryptococcal meningitis (n = 56) and meningitis caused by other agents (n = 16). The results demonstrated that PCR test had the highest sensitivity rates, superior to culture (85.7%) and to India ink test (76.8%). PCR was found to be sensitive in detecting 1 cell/mL and highly specific since it did not amplify other fungal DNA. The comparative analysis of the methods showed that PCR is more sensitive and specific and is applicable as an important laboratorial resource for neurocryptococcosis diagnosis.
Lentle, Brian C.; Hooper, Richard
Nuclear medicine has been defined as the use of radionuclides (unsealed sources of radiation) in the diagnosis and treatment of disease. It is a predominantly diagnostic speciality. Of the two aspects of disease, disordered structure and disordered function, nuclear medicine or radionuclide diagnosis has been unique in consistently providing information about disordered function. The method has applications both in life ( in vivo examinations, often involving imaging radionuclide distributions in the body) and in the test-tube ( in vivo). The tracer principle has allowed insights in respect of both patient care and research across a broad spectrum of diseases. Although nuclear medicine is a specialty which continues to evolve, it already has an established role in health care, predicated on its ability to study function.
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.
Peiro, Jose L; Scorletti, Federico; Sbragia, Lourenco
Persistent cloaca malformation is the most severe type of anorectal and urogenital malformation. Decisions concerning the surgical treatment for this condition are taken during the first hours of life and may determine the quality of life of these patients. Thus, prenatal diagnosis becomes important for a prompt and efficient management of the fetus and newborn, and accurate counseling of the parents regarding its consequences and the future of the baby. Careful evaluation by ultrasonography, and further in-depth analysis with MRI, allow prenatal detection of characteristic findings, which can lead to diagnose or at least suspect this condition. We reviewed our experience and the literature in order to highlight the most important clues that can guide the physician in the differential diagnosis. Copyright © 2016 Elsevier Inc. All rights reserved.
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.
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.
Accurate diagnosis of otitis media is important to prevent suffering and complications when infection is present, and unnecessary antibiotic use when infection is absent. The usual signs and symptoms of acute otitis media are unreliable guides in infants and young children. Similarly, middle ear effusions may present with little discomfort in older children. We therefore depend on examination of the tympanic membrane with an otoscope to make most diagnoses. This article aims to improve the accuracy of middle ear diagnosis by pneumatic otoscopy. It includes descriptions and photographs of the normal ear drum and illustrates the pathologic changes seen in acute otitis media, long-standing eustachian tube dysfunction and otitis media with effusion.
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.
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.
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
Brown, Edward M.; Collins, Michael T.; Jüppner, Harald; Lakatos, Peter; Levine, Michael A.; Mannstadt, Michael M.; Bilezikian, John P.; Romanischen, Anatoly F.; Thakker, Rajesh V.
Context: Hypoparathyroidism is a disorder characterized by hypocalcemia due to insufficient secretion of PTH. Pseudohypoparathyroidism is a less common disorder due to target organ resistance to PTH. This report summarizes the results of the findings and recommendations of the Working Group on Epidemiology and Diagnosis of Hypoparathyroidism. Evidence Acquisition: Each contributing author reviewed the recent published literature regarding epidemiology and diagnosis of hypoparathyroidism using PubMed and other medical literature search engines. Evidence Synthesis: The prevalence of hypoparathyroidism is an estimated 37 per 100 000 person-years in the United States and 22 per 100 000 person-years in Denmark. The incidence in Denmark is approximately 0.8 per 100 000 person-years. Estimates of prevalence and incidence of hypoparathyroidism are currently lacking in most other countries. Hypoparathyroidism increases the risk of renal insufficiency, kidney stones, posterior subcapsular cataracts, and intracerebral calcifications, but it does not appear to increase overall mortality, cardiovascular disease, fractures, or malignancy. The diagnosis depends upon accurate measurement of PTH by second- and third-generation assays. The most common etiology is postsurgical hypoparathyroidism, followed by autoimmune disorders and rarely genetic disorders. Even more rare are etiologies including parathyroid gland infiltration, external radiation treatment, and radioactive iodine therapy for thyroid disease. Differentiation between these different etiologies is aided by the clinical presentation, serum biochemistries, and in some cases, genetic testing. Conclusions: Hypoparathyroidism is often associated with complications and comorbidities. It is important for endocrinologists and other physicians who care for these patients to be aware of recent advances in the epidemiology, diagnosis, and genetics of this disorder. PMID:26943720
Clarke, Bart L; Brown, Edward M; Collins, Michael T; Jüppner, Harald; Lakatos, Peter; Levine, Michael A; Mannstadt, Michael M; Bilezikian, John P; Romanischen, Anatoly F; Thakker, Rajesh V
Hypoparathyroidism is a disorder characterized by hypocalcemia due to insufficient secretion of PTH. Pseudohypoparathyroidism is a less common disorder due to target organ resistance to PTH. This report summarizes the results of the findings and recommendations of the Working Group on Epidemiology and Diagnosis of Hypoparathyroidism. Each contributing author reviewed the recent published literature regarding epidemiology and diagnosis of hypoparathyroidism using PubMed and other medical literature search engines. The prevalence of hypoparathyroidism is an estimated 37 per 100 000 person-years in the United States and 22 per 100 000 person-years in Denmark. The incidence in Denmark is approximately 0.8 per 100 000 person-years. Estimates of prevalence and incidence of hypoparathyroidism are currently lacking in most other countries. Hypoparathyroidism increases the risk of renal insufficiency, kidney stones, posterior subcapsular cataracts, and intracerebral calcifications, but it does not appear to increase overall mortality, cardiovascular disease, fractures, or malignancy. The diagnosis depends upon accurate measurement of PTH by second- and third-generation assays. The most common etiology is postsurgical hypoparathyroidism, followed by autoimmune disorders and rarely genetic disorders. Even more rare are etiologies including parathyroid gland infiltration, external radiation treatment, and radioactive iodine therapy for thyroid disease. Differentiation between these different etiologies is aided by the clinical presentation, serum biochemistries, and in some cases, genetic testing. Hypoparathyroidism is often associated with complications and comorbidities. It is important for endocrinologists and other physicians who care for these patients to be aware of recent advances in the epidemiology, diagnosis, and genetics of this disorder.
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.
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. © 2012 The Authors. Australasian Journal of Dermatology © 2012 The Australasian College of Dermatologists.
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
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.
KANOTO, Masafumi; HOSOYA, Takaaki
Cerebral arterial dissection is defined as a hematoma in the wall of a cervical or an intracranial artery. Cerebral arterial dissection causes arterial stenosis, occlusion, and aneurysm, resulting in acute infarction and hemorrhage. Image analysis by such methods as conventional angiography, computed tomography, magnetic resonance imaging, and so on plays an important role in diagnosing cerebral arterial dissection. In this study, we explore the methods and findings involved in the diagnosis of cerebral arterial dissection. PMID:27180630
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.
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
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
Sarmiento, José Mauricio Hernández; Restrepo, Natalia Builes; Mejía, Gloria Isabel; Zapata, Elsa; Restrepo, Mary Alejandra; Robledo, Jaime
Introduction World Health Organization had estimated 9.4 million tuberculosis cases on 2009, with 1.7 million of deaths as consequence of treatment and diagnosis failures. Improving diagnostic methods for the rapid and timely detection of tuberculosis patients is critical to control the disease. The aim of this study was evaluating the accuracy of the cord factor detection on the solid medium Middlebrook 7H11 thin layer agar compared to the Lowenstein Jensen medium for the rapid tuberculosis diagnosis. Methods Patients with suspected tuberculosis were enrolled and their sputum samples were processed for direct smear and culture on Lowenstein Jensen and BACTEC MGIT 960, from which positive tubes were subcultured on Middlebrook 7H11 thin layer agar. Statistical analysis was performed comparing culture results from Lowenstein Jensen and the thin layer agar, and their corresponding average times for detecting Mycobacterium tuberculosis. The performance of cord factor detection was evaluated determining its sensitivity, specificity, positive and negative predictive value. Results 111 out of 260 patients were positive for M. tuberculosis by Lowenstein Jensen medium with an average time ± standard deviation for its detection of 22.3 ± 8.5 days. 115 patients were positive by the MGIT system identifying the cord factor by the Middlebrook 7H11 thin layer agar which average time ± standard deviation was 5.5 ± 2.6 days. Conclusion The cord factor detection by Middlebrook 7H11 thin layer agar allows early and accurate tuberculosis diagnosis during an average time of 5 days, making this rapid diagnosis particularly important in patients with negative sputum smear. PMID:25419279
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.
Kutcher, Jeffrey S.; Giza, Christopher C.
Purpose of Review: To provide the neurologist with a framework for the clinical approach to sports concussion diagnosis and management. Recent Findings: As the issue of brain injury in athletes has emerged and developed, shifting the landscape of public concern, neurologists have become more directly involved in the diagnosis and management of sports concussion. Neurologists are now playing an increased role in acute concussion diagnosis, early injury management, return-to-play decisions, and evaluation for potential long-term effects from exposure to biomechanical forces on brain health. Concussion is only one part of this spectrum, but it is no small concern. Sports concussion diagnosis and management require a comprehensive neurologic approach as the return-to-play decision is a medical one covering a spectrum of potential complications and future risks. Understanding the clinical syndrome of concussion as well as the underlying pathophysiologic mechanism is essential to providing care. Employing classic neurologic diagnostic techniques while concurrently respecting the unique nature of caring for athletes is also critical. Without an objective method of measuring the underlying metabolic injury, concussion management is, by necessity, a clinically intense endeavor that requires a broad skill set. Summary: Providing recommendations regarding the long-term effects of brain trauma and the need for retirement from contact sports requires an appreciation for both the reason for concern and the lack of data to frame this risk. As science continues to advance in this area, so will our diagnostic approaches and management schema. Neurologists caring for athletes with brain trauma should continue to seek the best possible evidence to help shape their clinical decisions. PMID:25470160
Rousset, Pascal; Gregory, Jules; Rousset-Jablonski, Christine; Hugon-Rodin, Justine; Regnard, Jean-François; Chapron, Charles; Coste, Joël; Golfier, François; Revel, Marie-Pierre
To evaluate magnetic resonance imaging (MRI) for diaphragmatic endometriosis diagnosis. Over a 2-year period, all diaphragmatic MRI performed in the context of diaphragmatic endometriosis were reviewed. Axial and coronal fat-suppressed T1- and T2-weighted sequences were analyzed by two independent readers for the presence of nodules, plaque lesions, micronodule clustering, or focal liver herniation. MR abnormalities were correlated to surgical findings in women surgically treated. Interobserver agreement was assessed by κ statistics. Twenty-three women with diaphragmatic endometriosis criteria comprised the population; 14 had surgical confirmation and nine had symptoms relief with hormonal treatment. MRI sensitivity was 83 % (19/23; 95 % confidence interval [CI]: 68, 98) for reader 1 and 78 % (18/23; 95 % CI: 61, 95) for reader 2. Kappa value was 0.86 (95 % CI: 0.47, 1.00). Readers 1 and 2 detected 35 and 36 lesions, respectively, all right-sided and agreed for 32 lesions on the type, location, and signal. Lesions were mostly nodules (23/32, 72 %), predominantly posterior (28/32, 87.5 %) and hyperintense on T1 (20/32, 63 %). MRI was negative for both readers in 2 surgically treated patients with small nodules or isolated diaphragmatic holes. MRI allows diaphragmatic endometriosis diagnosis with 78 to 83 % sensitivity and excellent interobserver agreement. • MRI allows the diagnosis of diaphragmatic endometriosis with up to 83 % sensitivity. • Diaphragmatic endometriosis lesions are better depicted on fat-suppressed T1-weighted sequences. • Diaphragmatic lesions, mostly hyperintense nodules, are right-sided and predominantly posterior. • MRI can help in timely diagnosis of diaphragmatic endometriosis.
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
García Camacho, L; Olea Comas, I; Talegón Meléndez, A; Castell Monsalve, J
Takayasu arteritis is a chronic inflammatory obliterative disease of the great vessels that mainly affects the aorta and its primary branches. In its early phase, the clinical presentation and laboratory tests are nonspecific, so accurate diagnosis frequently depends on imaging studies. The aim of this study was to review the main features of Takayasu's arteritis and the usefulness of different noninvasive imaging techniques in the early diagnosis and follow-up of this entity. We included 12 patients diagnosed with Takayasu's arteritis at our center. We retrospectively reviewed the different imaging studies (color Doppler US, multislice CT, and magnetic resonance) employed in each case. The abdominal aorta and its main branches (renal arteries, superior mesenteric artery, and celiac trunk) were involved in 8 of the 12 patients studied. This involvement was detected as increased velocities in Doppler US that were suggestive of stenosis and was later confirmed on CT angiography and MR angiography. In four patients, CT angiography and MRI angiography demonstrated diffuse and homogeneous vessel wall thickening; in two patients, these techniques also showed enhancement of the thickened walls after contrast administration that suggested active inflammatory disease. Another frequent finding was supra-aortic trunk involvement, which was seen in six cases. Noninvasive imaging techniques are fundamental in the early diagnosis of patients with Takayasu's arteritis. CT angiography and MR angiography provide additional information about the inflammatory activity of the disease.
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
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.
Sanz, María L; Gamboa, P M; García-Figueroa, B E; Ferrer, M
The application and development of new in vitro techniques aims to enable a diagnosis to be reached while incurring no risk for the patient, a situation which is particularly desirable in the case of severe reactions like anaphylaxis. The in vitro diagnosis of anaphylaxis includes, among other aspects, the serial measurement of mediators which are released in the course of an anaphylactic reaction such as tryptase, histamine, chymase, carboxypeptidase A3, platelet-activating factor and other products from mastocytes. The detection of agents which trigger the anaphylactic reaction can be made with the use of serologic methods: serum-specific IgE or with cellular tests which measure the release of basophil mediators (leukotrienes, histamine) or with the analysis of the expression of basophil markers, a technique known as the basophil activation test. These techniques offer interesting alternatives in the diagnosis of anaphylaxis. The basophil activation test provides important advantages in patients with anaphylaxis to beta-lactams, non-steroidal anti-inflammatory drugs, neuromuscular blocking agents and drugs where there is no technique to measure specific IgE. Copyright 2010 S. Karger AG, Basel.
Calabrese, Fiorella; Lunardi, Francesca; Popper, Helmut
The development of different molecular biology techniques in the past decade has led to an explosion of new research in molecular pathology with consequent important applications to diagnosis, prognosis, and therapeutics, as well as a clearer concept of the disease pathogenesis. Many methods used in molecular pathology are now validated and used in several areas of pathological diagnosis, particularly on infectious and neoplastic diseases. The spectrum of infectious diseases, especially lung infective diseases, is now broadening and modifying, thus the pathologist is increasingly involved in the diagnosis of these pathologies. The precise tissue characterization of lung infections has an important impact on specific therapeutic treatment. Increased knowledge of significant alterations in lung cancer has led today to a better understanding of the pathogenic substrate underlying the development, progression and metastasis of neoplastic processes. Molecular tests are now routinely performed in different lung tumors allowing a more precise patient stratification in terms of prognosis and therapy. This review focuses on molecular pathology of the principal infective lung diseases and tumors.
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.
To describe the phenomenon of stress overload as a nursing diagnosis. A qualitative study using case study method was conducted with nine adults experiencing stress overload to fully describe the experience and identify possible defining characteristics. Current literature sources on stress and its related factors were examined to support stress overload as a nursing diagnosis for inclusion in the NANDA International classification. Stress overload, defined as excessive amounts and types of demands that require action, is a human response that is experienced as a problem and contributes to the development of other problems. The proposed defining characteristics are perceives situational stress as excessive, expresses a feeling of tension or pressure, expresses difficulty in functioning as usual, expresses problems with decision-making, demonstrates increased feelings of anger and impatience, and reports negative effects from stress such as physical symptoms or psychological distress. Nursing interventions such as active listening and decision-making support are needed to help people reduce stress levels. Studies are needed to further validate the defining characteristics and related factors of this new diagnosis.
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).
Kaplan, Meg S; Krueger, Richard B
This article reviews the current evidence base for the diagnosis, assessment, and treatment of hypersexual conditions. Controversy concerning this diagnosis is discussed. Terminology and diagnostic criteria, as well as psychological, psychopharmacological, and other treatment approaches, are presented.
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 ...
... Navigation Bar Home Current Issue Past Issues Feature Hepatitis Hepatitis: Symptoms, Diagnosis, Treatment & Prevention Past Issues / Spring 2009 ... No appetite Fever Headaches Diagnosis To check for hepatitis viruses, your doctor will test your blood. You ...
... Outbreaks (URDO) European Legionnaires’ Disease Surveillance Network (ELDSNet) Diagnosis, Treatment, and Complications Language: English (US) EspaÃ±ol ( ... similar tests, but are treated differently. Legionnaires’ Disease Diagnosis People with Legionnaires’ disease have pneumonia (lung infection), ...
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
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,…
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.
"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.…
Embretson, Susan E.; Yang, Xiangdong
This paper presents a noncompensatory latent trait model, the multicomponent latent trait model for diagnosis (MLTM-D), for cognitive diagnosis. In MLTM-D, a hierarchical relationship between components and attributes is specified to be applicable to permit diagnosis at two levels. MLTM-D is a generalization of the multicomponent latent trait…
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,…
"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.…
Carter, Yvette; Sippel, Rebecca S.
Hypothyroidism is a common disease that is easily treated in the majority of cases, when readily diagnosed; however, presentation of an aggregate of its symptoms is often clinically overlooked or attributed to another disease and can potentially be lethal. Already prevalent in older women, its occurrence in younger patients is rising as a result of radiation therapy, radioactive iodine therapy, and newer antineoplastic agents used to manage various malignancies. The presence of nonspecific constitutional symptoms and neuropsychiatric complaints in cancer patients can be attributed to a myriad of other diagnoses and therapies. Thyroid dysfunction can be easily overlooked in cancer patients because of the complexity of cancer’s clinical picture, particularly in the pediatric population. Underdiagnosis can have important consequences for the management of both hypothyroidism and the malignancy. At minimum, quality of life is adversely affected. Untreated hypothyroidism can lead to heart failure, psychosis, and coma and can reduce the effectiveness of potentially life-saving cancer therapies, whereas iatrogenic causes can provoke atrial fibrillation and osteoporosis. Consequently, the diagnosis and treatment of hypothyroidism in cancer patients are pertinent. We summarize the history, epidemiology, pathophysiology, clinical diagnosis, and management of hypothyroidism in cancer patients. PMID:24309982
Locke, Bradley A; Dasu, Trivikram; Verbsky, James W
Primary immune deficiency disorders represent a highly heterogeneous group of disorders with an increased propensity to infections and other immune complications. A careful history to delineate the pattern of infectious organisms and other complications is important to guide the workup of these patients, but a focused laboratory evaluation is essential to the diagnosis of an underlying primary immunodeficiency. Initial workup of suspected immune deficiencies should include complete blood counts and serologic tests of immunoglobulin levels, vaccine titers, and complement levels, but these tests are often insufficient to make a diagnosis. Recent advancements in the understanding of the immune system have led to the development of novel immunologic assays to aid in the diagnosis of these disorders. Classically utilized to enumerate lymphocyte subsets, flow cytometric-based assays are increasingly utilized to test immune cell function (e.g., neutrophil oxidative burst, NK cytotoxicity), intracellular cytokine production (e.g., TH17 production), cellular signaling pathways (e.g., phosphor-STAT analysis), and protein expression (e.g., BTK, Foxp3). Genetic testing has similarly expanded greatly as more primary immune deficiencies are defined, and the use of mass sequencing technologies is leading to the identification of novel disorders. In order to utilize these complex assays in clinical care, one must have a firm understanding of the immunologic assay, how the results are interpreted, pitfalls in the assays, and how the test affects treatment decisions. This article will provide a systematic approach of the evaluation of a suspected primary immunodeficiency, as well as provide a comprehensive list of testing options and their results in the context of various disease processes.
The aim of pre-implantation genetic diagnosis (PGD) is to characterize the genetic status of the cells (usually single cells) that have been biopsied from oocytes/zygotes or embryos created in vitro during assisted reproductive treatment. PGD is a multi-step procedure that requires close collaboration between gynaecologists who are experts in assisted reproduction, embryologists who are experts in micromanipulation of germ cells and in embryo biopsy and geneticists who are experts in genetic analysis at the single-cell level. PGD can be applied as a form of early pre-natal diagnosis with the aim to establish a pregnancy unaffected by a haemoglobinopathy. In addition, PGD can identify embryos that are human leukocyte antigen compatible with an existing sibling affected by a haemoglobinopathy to support a haematopoietic stem cell transplantation. PGD has an advantage over conventional pre-natal diagnosis as it precludes the need to consider terminating an affected ongoing pregnancy. However, PGD is a multi-step, complex and costly procedure with an unpredictable outcome and thus is most suited for couples with an unsuccessful reproductive history or challenging reproductive status. In addition, PGD supports the cure of an affected child. Couples who decide to undergo a PGD cycle should be fully aware of the advantages and limitations. The three teams of health practitioners involved (gynaecologists, embryologists and geneticists) should thoroughly counsel the couples and provide support at all the stages: the initial evaluation of their genetic and reproductive status, all steps of assisted reproduction, embryo biopsy, genetic analysis and, when relevant, follow-up of pregnancy and baby(ies) delivered. Copyright © 2016. Published by Elsevier Ltd.
Niermeijer, M F; Sachs, E S; Jahodova, M; Tichelaar-Klepper, C; Kleijer, W J; Galjaard, H
Three hundred and fifty pregnancies were monitored by transabdominal amniocentesis in the fourteenth to sixteenth week of gestation followed by karyotyping or biochemica assays of cultured amniotic fluid cells and analysis of alpha-fetoprotein in the amniotic fluid supernatant. The pregnancy was interrupted in 36 cases (10%) either becasue of a fetal abnormality or the presence of a male fetus in pregnancies at risk for an X-linked disease. Four chromosomal aberrations were found in 87 pregnancies tested because of advanced maternal age. In 101 pregnancies with a recurrence risk of Down's syndrome, 2 fetuses with an abnormal karyotype were detected. In 11 cases, in which 1 parent was a carrier of a balanced translocation, 2 unbalanced fetal karyotypes were found. Fetal chromosome studies in 43 pregancies at risk for an X-linked disease indicated the presence of a male fetus in 21 cases. Prenatal diagnosis of 11 different metabolic diseases was performed in a total of 34 cases. Microchemical techniques were used to allow completion of the diagnosis of seven different enzyme deficiencies within 9 to 22 days after amniocentesis. Alpha-fetoprotein assay in the amniotic fluid supernatant of 47 pregnancies at risk for an open neural tube defect resulted in the detection of 3 anencephalic fetuses during the second half of pregnancy. The safety and reliability of amniocentesis and the possible effects on the outcome of pregnancy are evaluated. Prenatal diagnosis offers a promising alternative for parents who are at risk of having a child with a genetic disease which can be detected in amniotic fluid or in cultured amniotic fluid cells. Images PMID:58990
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.
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.
Leslie, I J; Bentley, G
Chondromalacia patellae is difficult to diagnosis clinically with accuracy. In order to clarify the relevant symptoms and signs, 78 patients presenting with a clinical diagnosis of chondromalacia were examined by arthroscopy. In 49% of the knees no abnormalities were found. Presenting symptoms were similar in the normal and abnormal groups. Physical signs were more helpful in diagnosis and it is considered that the presence of an effusion, quadriceps wasting, and patello-femoral crepitus are the most important clinical findings in the diagnosis of chondromalacia patellae. The arthroscope is valuable instrument in establishing the diagnosis of chondromalacia patellae especially in the teenage female. Images PMID:749700
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.
Rosales-Reynoso, Mónica Alejandra; Barros-Núñez, Patricio
Huntington's disease (HD) is a neurological degenerative disorder, inherited by an autosomal dominant mode, and caused by a CAG triplet expansion coding for a poly-glutamine sequence in the huntingtin protein. HD affects 5-10 in 100,000 individuals from Caucasian population. Clinically patients display motor, cognitive and psychological impairment, and death within 10-15 years. Concrete advances have been achieved in the knowledge of the mutational mechanism, alteration of the protein product and their neuropathological effects. A number of tests such as PCR with or without DNA modification, Southern blot and mixed methods are analyzed. We describe their characteristics and effectiveness for the molecular diagnosis of HD.
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
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.
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
Taruc-Uy, Rafaelani L; Lynch, Scott A
Osteoarthritis presents in primary and secondary forms. The primary, or idiopathic, form occurs in previously intact joints without any inciting agent, whereas the secondary form is caused by underlying predisposing factors (eg, trauma). The diagnosis of osteoarthritis is primarily based on thorough history and physical examination findings, with or without radiographic evidence. Although some patients may be asymptomatic initially, the most common symptom is pain. Treatment options are generally classified as pharmacologic, nonpharmacologic, surgical, and complementary and/or alternative, typically used in combination to achieve optimal results. The goals of treatment are alleviation of symptoms and improvement in functional status. Published by Elsevier Inc.
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
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.
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.
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.
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.
At the present time, the following parameters can be recommended for early diagnosis of phosgene overexposure: Phosgene indicator paper badges, to be worn by all persons involved in handling phosgene (these badges permit immediate estimation of the exposure dose in each individual case); Observation of the initial irritative symptoms of the eye and the upper respiratory tract after phosgene inhalation can provide a rough indication of the inhalation concentration and dose; X-ray photographs of the lungs make it possible to detect incipient toxic pulmonary edema at an early stage, during the clinical latent period. A number of additional parameters require further critical investigation.
Baĭzhomartov, M S; Prozorovskiĭ, S V; Vasil'eva, V I; Efremova, I I; Furman, M A
A complex of immunological cell tests with M. pneumoniae antigen (the lymphocyte blast-cell transformation test, the allergic neutrophil alteration test) was carried out in order to establish the correlation between the results of positive seroconversion and the sepcific immunological reactivity of lymphoid cells in pneumonia patients. Mycoplasmic cutireactive allergen, when used for the accelerated diagnosis of mycoplasmic pneumonia in humans, was shown to be specific and safe. Cuti-allergic tests with mycoplasmic allergen allowed to diagnose mycoplasmic pneumonia at early stages (beginning from days 5--7), which ensures the possibility of indicating etiotropic treatment to patients in due time.
Cargill, James S; Scott, Katharine S; Gascoyne-Binzi, Deborah; Sandoe, Jonathan A T
Granulicatella species, along with the genus Abiotrophia, were originally known as 'nutritionally variant streptococci'. They are a normal component of the oral flora, but have been associated with a variety of invasive infections in man and are most noted as a cause of bacterial endocarditis. It is often advised that Granulicatella endocarditis should be treated in the same way as enterococcal endocarditis. We review here the published data concerning diagnosis and treatment of Granulicatella infection, and include some observations from local cases, including four cases of endocarditis.
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.
Patey-Mariaud De Serre, N; Verkarre, V; Cellier, C; Cerf-Bensussan, N; Schmitz, J; Brousse, N
Villous atrophy may have various etiologies. The diagnosis of villous atrophy relies on an intestinal biopsy which necessitates a perfect histological technique to assert the villous atrophy and its degree. The most frequent etiology is coeliac disease. Villous atrophy regresses with gluten free diet. The failure of a strict gluten free diet implies to exclude a refractory sprue thought to be the earliest form of enteropathy associated T cell lymphoma. The other etiologies of villous atrophy are unusual and could be observed in alpha chain disease, inflammatory and infectious diseases, immune disorders, and primitive ileal villous atrophy. Other etiologies characterize villous atrophy in children as cow milk allergy and epithelial abnormalities.
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
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
The local inflammatory reaction following a tick bite varies considerably, so that in particular the frequently atypical variations result in a wrong diagnosis and thus to inappropriate treatment. If a tick bite is followed within three weeks by flue-like or neurological symptoms, or joint swelling in the vicinity of the bite, a serological investigation work-up should be carried out. In the early stage, however, Borrelia-specific antibodies can be detected in only 30-80% of the patients. However, during the further course of the illness, the specific IgM and IgG antibody titers almost always increase.
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.
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.
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.
Lymphatic filariasis caused by the mosquitoborne, lymphatic-dwelling nematodes Wuchereria bancrofti and Brigia malayi is still a common tropical parasitic disease and 120 million people are affected in the world, of which two-third in Asia. W. bancrofti is responsible for 90% of this disease, while B. malayi for the remaining 10%. Next to psychiatric illness, this is the leading cause for permanent and long-term disability. Some recent studies have evidenced new aspects in the diagnosis, management and in planning effective strategies for its global prevention. The aim of this up to date is to evidence clinical, diagnostic and therapeutic aspects of this very important infection.
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.
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. PMID:24515564
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.
Rish, Irina; Brodie, Mark; Ma, Sheng; Odintsova, Natalia; Beygelzimer, Alina; Grabarnik, Genady; Hernandez, Karina
Real-time problem diagnosis in large distributed computer systems and networks is a challenging task that requires fast and accurate inferences from potentially huge data volumes. In this paper, we propose a cost-efficient, adaptive diagnostic technique called active probing. Probes are end-to-end test transactions that collect information about the performance of a distributed system. Active probing uses probabilistic reasoning techniques combined with information-theoretic approach, and allows a fast online inference about the current system state via active selection of only a small number of most-informative tests. We demonstrate empirically that the active probing scheme greatly reduces both the number of probes (from 60% to 75% in most of our real-life applications), and the time needed for localizing the problem when compared with nonadaptive (preplanned) probing schemes. We also provide some theoretical results on the complexity of probe selection, and the effect of "noisy" probes on the accuracy of diagnosis. Finally, we discuss how to model the system's dynamics using dynamic Bayesian networks (DBNs), and an efficient approximate approach called sequential multifault; empirical results demonstrate clear advantage of such approaches over "static" techniques that do not handle system's changes.
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.
Lymphedema results from impaired lymphatic transport with increased limb volume. Lymphedema are divided in primary and secondary forms. Upper-limb lymphedema secondary to breast cancer treatment is the most frequent in France. Primary lymphedema is sporadic, rarely familial or associated with complex malformative or genetic disorders. Diagnosis of lymphedema is mainly clinical and lymphoscintigraphy is useful in primary form to assess precisely the lymphatic function of the two limbs. Erysipelas (cellulitis) is the main complication, but psychological or functional discomfort may occur throughout the course of lymphedema. Lipedema is the main differential diagnosis, defined as an abnormal accumulation of fat from hip to ankle. Lymphedema management is based on complete decongestive physiotherapy (multilayer low-stretch bandage, manual lymph drainage, skin care, exercises). The first phase of treatment leads to a reduction of lymphedema volume and the second phase stabilizes the volume. Multilayer low-stretch bandage and elastic compression is the cornerstone of the complete decongestive physiotherapy. Patient-education programs, including self-management, aim to improve patient autonomy. Copyright © 2016 Société Nationale Française de Médecine Interne (SNFMI). Published by Elsevier SAS. All rights reserved.
López Amado, M; Arrojo Alonso, F; García Sarandeses, A; Herranz González, J; Martínez Vidal, J
In spite of its rarity Wegener's granulomatosis is of great concern to be otolaryngologist because the malady may start in the territory of the speciality, challenging the actual diagnosis, owing to the inespecificity of the symptomatology, to its torpid evolution, as well as the potential harmfullness of process. This paper inform of the retrospective study done by the AA. in the last ten years, about 4 cases diagnosed and treated by them. All the possible diagnostic measures are contemplated: clinical and histopathological findings and the newly introduced tests for anticytoplasmatic antibodies against the neutrophiles. A review of the bibliography on the subject is adjoined. All the considered patients consulted at the beginning with the otolaryngologist. Diagnostic suspicion aroused only in patients with nasal complaints (50 percent) and were not under suspicion those with ear symptoms. Positive diagnosis were confirmed in all cases through renal biopsies. Nasal biopsies resulted negatives. When the syndrome started in low aged patients the evolutive course showed deleterious and the affected died after a short term of few months. In more aged a survival of 8-9 yeas was reached.
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
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.
Dumars, Kenneth W.; Dalrymple, Gisela T.; Murray, Allen K.
Since the early 1960's knowledge regarding human genetics has increased at an exponential rate. Because genetics was not commonly taught in medical schools before the late 1960's, this review article is intended to acquaint physicians or refresh their knowledge regarding chromosomal, mendelian and multifactorial inheritance and the indications for prenatal diagnosis. Establishing an accurate diagnosis and mode of inheritance is essential in identifying and selecting those families at risk for genetic disease in their offspring. Medical genetics is evolving as a specialty in order to provide consultation and, if needed, management of those families who would benefit by genetic services. Families who would benefit from genetic counseling include, for example, those in whom any of the following conditions is present: known chromosomal disorders, known disorders due to mendelian inheritance, mental retardation of unknown origin, failure of sexual maturation or failure of sexual development, congenital malformations, floppy infant syndrome or leukemia. A list of more than 70 disorders now detectable in a fetus by means of amniocentesis provides a beginning in the prevention of genetic disease. Knowledge regarding these diseases allows a physician to provide families with accurate risk figures so that they may make informed decisions about having children. Also, a compassionate and nonjudgmental approach to counseling is essential. Decisions, in the final analysis, must be made by the family but aided and supported by the physician. ImagesFigure 4.Figure 5. PMID:1274337
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.
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
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
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.
Ahmed, Amel Altayeb; van de Sande, Wendy
Mycetoma is a unique neglected tropical disease caused by a substantial number of microorganisms of fungal or bacterial origins. Identification of the causative organism and the disease extension are the first steps in the management of the affected patients and predicting disease treatment outcome and prognosis. Different laboratory-based diagnostic tools and techniques were developed over the years to determine and identify the causative agents. These include direct microscopy and cytological, histopathological, and immunohistochemical techniques in addition to the classical grain culture. More recently, various molecular-based techniques have joined the mycetoma diagnostic armamentarium. The available mycetoma diagnostic techniques are of various specificity and sensitivity rates. Most are invasive, time consuming, and operator dependent, and a combination of them is required to reach a diagnosis. In addition, they need a well-equipped laboratory and are therefore not field friendly. This review aims to provide an update on the laboratory investigations used in the diagnosis of mycetoma. It further aims to assist practising health professionals dealing with mycetoma by outlining the guidelines developed by the Mycetoma Research Centre, University of Khartoum, WHO collaborating centre on mycetoma following a cumulative experience of managing more than 7,700 mycetoma patients. PMID:28837657
Ahmed, Amel Altayeb; van de Sande, Wendy; Fahal, Ahmed Hassan
Mycetoma is a unique neglected tropical disease caused by a substantial number of microorganisms of fungal or bacterial origins. Identification of the causative organism and the disease extension are the first steps in the management of the affected patients and predicting disease treatment outcome and prognosis. Different laboratory-based diagnostic tools and techniques were developed over the years to determine and identify the causative agents. These include direct microscopy and cytological, histopathological, and immunohistochemical techniques in addition to the classical grain culture. More recently, various molecular-based techniques have joined the mycetoma diagnostic armamentarium. The available mycetoma diagnostic techniques are of various specificity and sensitivity rates. Most are invasive, time consuming, and operator dependent, and a combination of them is required to reach a diagnosis. In addition, they need a well-equipped laboratory and are therefore not field friendly. This review aims to provide an update on the laboratory investigations used in the diagnosis of mycetoma. It further aims to assist practising health professionals dealing with mycetoma by outlining the guidelines developed by the Mycetoma Research Centre, University of Khartoum, WHO collaborating centre on mycetoma following a cumulative experience of managing more than 7,700 mycetoma patients.
Ivins, Gregory K.
Objective To discuss the diagnosis and treatment of meralgia paresthetica as reported in the literature and as experienced by the author. Summary Background Data Meralgia paresthetica is a mononeuropathy of the lateral femoral cutaneous nerve that can lead to significant disability when the diagnosis and treatment is delayed or missed. This condition is relatively common but is frequently mistaken for other disorders. Methods Fifteen cases of meralgia paresthetica were identified in 14 patients in a private surgical practice during a 4-year period. All patients were initially treated conservatively and seven patients subsequently underwent surgical treatment. Follow-up ranged from 3 to 6 years. Results Conservative management consisting of local analgesics, steroids, nonsteroidal antiinflammatories, rest, and reduction or elimination of aggravating factors yielded long-lasting improvement in five patients with meralgia paresthetica. Nine patients with 10 cases of meralgia paresthetica did not benefit in the long term from conservative management. Seven of these patients, representing eight cases of meralgia paresthetica, ultimately opted for surgical management, and all obtained good long-term relief of symptoms. Conclusion Surgical management of meralgia paresthetica is a viable option for patients in whom medical management fails. Based on the published literature and the author’s experience, a rationale is presented for determining the appropriate surgical management of these patients. PMID:10903608
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
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.
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.
Micali, Giuseppe; 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.
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.
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.
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
Alvarez, Rosa María; García-Díaz, Lutgardo; Márquez, Javier; Fajardo, Manuel; Rivas, Eloy; García-Lozano, Juan Carlos; Antiñolo, Guillermo
Hemimegalencephaly (HME) is a developmental abnormality of the central nervous system (CNS) which may present as either a syndromic or isolated case. Here, we present two cases of early prenatal diagnosis of HME. Prenatal CNS ultrasound and MRI in the first case revealed ventricular asymmetry, midline shift with displacement of the occipital lobe across the midline, large dilatation mainly at the posterior horn of the left lateral ventricle, and a head circumference in the 90th percentile without involvement of the brain stem and cerebellum, as well as abdominal lymphangioma. Right hemispherectomy was performed at 3 months of age due to intractable seizures. The pathological specimen showed findings characteristic of HME, including a disorganized cytoarchitecture with lack of neuronal lamination, focal areas of polymicrogyria, and neuronal heterotopias with dysplastic cells. In the second case, 2D and 3D neurosonography demonstrated similar findings (asymmetry of cerebral hemispheres, midline shift, and dilation of the posterior horn of the left lateral cerebral ventricle). Posterior fossa structures were unremarkable. HME was diagnosed and the pregnancy was terminated. Autopsy findings confirmed the diagnosis of HME. Copyright © 2011 S. Karger AG, Basel.
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.
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. Copyright 2000 Harcourt Publishers Ltd.
Maillet, Mylène; Bouvat, Eric; Robert, Nicole; Baccard-Longère, Monique; Morel-Baccard, Christine; Morand, Patrice; Vabret, Astrid; Stahl, Jean-Paul
Several mumps outbreaks have been reported in Europe and in the United States among highly vaccinated populations. Biological diagnosis is classically based on the detection of mumps-specific IgM, but the ability of serological tests to confirm mumps infection seems to be limited among vaccinated patients. We aim to report a mumps outbreak in an engineering school in Grenoble, France, from February to June 2013 and results of the biological testing. WHO definitions were used to define cases. Mumps--specific IgM and IgG were assessed by a commercially available EIA. Mumps RNA detection by real time reverse transcriptase polymerase chain reaction tests (RT-PCR) and mumps genotyping were performed by the French National Reference Centre for Paramyxoviridae. Sixty two mumps patient-cases were identified using WHO case definitions, 20 being biologically explored, of which 17 were confirmed by biological tests. Vaccination status was documented for 27 patients/62: 4 (14.8%) patients had received one dose of MMR vaccine, and 23 (85.2) two doses of MMR vaccine. Among the biologically explored patients, 83% had a positive RT PCR at the first sampling whereas only 45% had positive or equivocal IgM. All the genotyped strains were genotype G. Mumps laboratory diagnosis in a highly vaccinated population is challenging. Serological tests among vaccinated patients should be interpreted cautiously and confirmed by RT-PCR tests at the beginning of a mumps outbreak. Copyright © 2014 Elsevier B.V. All rights reserved.
Palomo, Telma; Vilaça, Tatiane; Lazaretti-Castro, Marise
Here we summarize the diagnosis of osteogenesis imperfecta, discuss newly discovered genes involved in osteogenesis imperfecta, and review the management of this disease in children and adults. Mutations in the two genes coding for collagen type I, COL1A1 and COL1A2, are the most common cause of osteogenesis imperfecta. In the past 10 years, defects in at least 17 other genes have been identified as responsible for osteogenesis imperfecta phenotypes, with either dominant or recessive transmission. Intravenous bisphosphonate infusions are the most widely used medical treatment. This has a marked effect on vertebra in growing children and can lead to vertebral reshaping after compression fractures. However, bisphosphonates are less effective for preventing long-bone fractures. At the moment, new therapies are under investigation. Despite advances in the diagnosis and treatment of osteogenesis imperfecta, more research is needed. Bisphosphonate treatment decreases long-bone fracture rates, but such fractures are still frequent. New antiresorptive and anabolic agents are being investigated but efficacy and safety of these drugs, especially in children, need to be better established before they can be used in clinical practice.
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
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.
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.
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.
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. Copyright © 2015 Sociedad Española de Neurocirugía. Published by Elsevier España. All rights reserved.
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. Copyright © 2016 John Wiley & Sons, Inc.
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.
Walther, M M; Keiser, H R; Linehan, W M
Pheochromocytoma is a catecholamine-producing tumor of the sympathetic nervous system. Signs and symptoms are generally related to catecholamine excess; these include hypertension, sweating, palpitatione, headaches, and anxiety attacks. Abdominal imaging and 24-h urine collection for catecholamines are usually be sufficient for diagnosis. Catecholamine blockade with phenoxybenzamine and metyrosine generally ameliorates symptoms and is necessary to prevent hypertensive crisis during surgery. Standard treatment is laparoscopic adrenalectomy, although partial adrenalectomy is gaining enthusiastic support in familial forms of pheochromocytoma. Pheochromocytomas have been estimated to be present in approximately 0.3% of patients undergoing evaluation for secondary causes of hypertension . Pheochromocytomas are usually curable if diagnosed and treated properly, but they can be fatal if they are not diagnosed or are managed inappropriately. Autopsy series suggest that many pheochromocytomas are not clinically suspected and that the undiagnosed tumor can be associated with morbid consequences .
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.
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.
Muhsin, Saif A; Mount, David B
Hypernatremia is defined as a serum sodium level above 145 mmol/L. It is a frequently encountered electrolyte disturbance in the hospital setting, with an unappreciated high mortality. Understanding hypernatremia requires a comprehension of body fluid compartments, as well as concepts of the preservation of normal body water balance. The human body maintains a normal osmolality between 280 and 295 mOsm/kg via Arginine Vasopressin (AVP), thirst, and the renal response to AVP; dysfunction of all three of these factors can cause hypernatremia. We review new developments in the pathophysiology of hypernatremia, in addition to the differential diagnosis and management of this important electrolyte disorder. Copyright © 2016. Published by Elsevier Ltd.
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
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.
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
Demirev, Plamen A
A physical method currently being developed for malaria parasite detection and diagnosis in blood is reviewed in this article. The method - direct laser desorption mass spectrometry - is based on the detection of heme (iron protoporphyrin) as a unique qualitative and quantitative molecular biomarker for malaria. In infected erythrocytes, the parasite sequesters heme in a molecular crystal (hemozoin) - a volume of highly concentrated and purified biomarker molecules. Laser desorption mass spectrometry detects only heme from hemozoin in parasite-infected blood, and not heme that is bound to hemoglobin or other proteins in uninfected blood samples. The method requires only a drop of blood with minimal sample preparation. Laser desorption mass spectrometry may become a rapid and high-throughput tool for specific and sensitive pan-malaria detection at levels below 10 parasites/mul of blood.
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.
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.
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.
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.
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
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.
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.
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
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.
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.
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
Thomas-Antérion, C; Laurent, B
The diagnosis of dementia of Alzheimer type (DTA) in the early stage of the disease may be possible with the development of specialized memory consultations. After this diagnosis, we can inform family and even the patient in some cases, monitor the progression of disease, give or not treatment, and help family for daily life management (money, car driving, administration papers, etc.). The first step is to analyse the memory complaints of the patient and if possible of his family. The difficulties in everyday life are more informative than an anxious complaint of memory and some IADL deficiency appear early: difficulty to use phone, drugs, transports or checks. The patient examination by a practitioner or a neurologist has to be complete, even if normal in most of the cases. The practitioner has to explore without specific material, the main cognitive domain: the "5 words test" illustrates a useful memory tool, analysing two types of recall. We also must observe writing, digit span, naming and verbal fluency. The examination by a psychologist using standardized batteries of tests must always be driven by this clinical exploration using common scales like MMS or ADAS. In very early DTA, we may observe a cognitive decline limited to some aspects of memory (free long term recall, cued recall, working memory...) with a decline of the most controlled attentional tasks. An isolated memory disorder has to be identified either as onset of DTA or as an aging related cognitive decline (ARCD): the difference is qualitative and may appear only on repeated exams by experimented psychologist.
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.
Nau, Konrad C; Lewis, William D
Multiple myeloma, the most common bone malignancy, is occurring with increasing frequency in older persons. Typical symptoms are bone pain, malaise, anemia, renal insufficiency, and hypercalcemia. Incidental discovery on comprehensive laboratory panels is common. The disease is diagnosed with serum or urine protein electrophoresis or immunofixation and bone marrow aspirate analysis. Skeletal radiographs are important in staging multiple myeloma and revealing lytic lesions, vertebral compression fractures, and osteoporosis. Magnetic resonance imaging and positron emission tomography or computed tomography are emerging as useful tools in the evaluation of patients with myeloma; magnetic resonance imaging is preferred for evaluating acute spinal compression. Nuclear bone scans and dual energy x-ray absorptiometry have no role in the diagnosis and staging of myeloma. The differential diagnosis of monoclonal gammopathies includes monoclonal gammopathy of uncertain significance, smoldering (asymptomatic) and symptomatic multiple myeloma, amyloidosis, B-cell non-Hodgkin lymphoma, Waldenström macroglobulinemia, and rare plasma cell leukemia and heavy chain diseases. Patients with monoclonal gammopathy of uncertain significance or smoldering multiple myeloma should be followed closely, but not treated. Symptomatic multiple myeloma is treated with chemotherapy followed by autologous stem cell transplantation, if possible. Melphalan, prednisolone, dexamethasone, vincristine, doxorubicin, bortezomib, and thalidomide and its analogue lenalidomide have been used successfully. It is important that family physicians recognize and appropriately treat multiple myeloma complications. Bone pain is treated with opiates, bisphosphonates, radiotherapy, vertebroplasty, or kyphoplasty; nephrotoxic nonsteroidal anti-inflammatory drugs should be avoided. Hypercalcemia is treated with isotonic saline infusions, steroids, furosemide, or bisphosphonates. Because of susceptibility to infections
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.
Vilar, Lucio; Vilar, Clarice Freitas; Lyra, Ruy; Lyra, Raissa; Naves, Luciana A
Acromegaly is a rare and underdiagnosed disorder caused, in more than 95% of cases, by a growth hormone (GH)-secreting pituitary adenoma. The GH hypersecretion leads to overproduction of insulin-like growth factor 1 (IGF-1) which results in a multisystem disease characterized by somatic overgrowth, multiple comorbidities, physical disfigurement, and increased mortality. This article aims to review the clinical features of acromegaly at diagnosis. Acromegaly affects both males and females equally and the average age at diagnosis ranges from 40 to 50 years (up to 5% of cases < the age 20). Due to insidious onset and slow progression, acromegaly is often diagnosed five to more than ten years after its onset. The typical coarsening of facial features include furrowing of fronthead, pronounced brow protrusion, enlargement of the nose and the ears, thickening of the lips, skin wrinkles and nasolabial folds, as well as mandibular prognathism that leads to dental malocclusion and increased interdental spacing. Excessive growth of hands and feet (predominantly due to soft tissue swelling) is present in the vast majority of acromegalic patients. Gigantism accounts for up to 5% of cases and occurs when the excess of GH becomes manifest in the young, before the epiphyseal fusion. The disease also has rheumatologic, cardiovascular, respiratory, neoplastic, neurological, and metabolic manifestations which negatively impact its prognosis and patients quality of life. Less than 15% of acromegalic patients actively seek medical attention for change in appearance or enlargement of the extremities. The presentation of acromegaly is more often related to its systemic comorbidities or to local tumor effects.
Rankin, Eric; France, Cheryl; El-Missiry, Ahmed; John, Collin
Background: The authors reviewed the topic of reliability of psychiatric diagnosis from the turn of the 20th century to present. The objectives of this paper are to explore the reasons of unreliability of psychiatric diagnosis and propose ways to improve the reliability of psychiatric diagnosis. Method: The authors reviewed the literature on the concept of reliability of psychiatric diagnosis with emphasis on the impact of interviewing skills, use of diagnostic criteria, and structured interviews on the reliability of psychiatric diagnosis. Results: Causes of diagnostic unreliability are attributed to the patient, the clinician and psychiatric nomenclature. The reliability of psychiatric diagnosis can be enhanced by using diagnostic criteria, defining psychiatric symptoms and structuring the interviews. Conclusions: The authors propose the acronym ‘DR.SED,' which stands for diagnostic criteria, reference definitions, structuring the interview, clinical experience, and data. The authors recommend that clinicians use the DR.SED paradigm to improve the reliability of psychiatric diagnoses. PMID:21103149
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.
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.
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.
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
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.
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
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
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
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.
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.
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
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.
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.
Graham, Colin A; Latten, Mark J; Hart, Padraig J
Familial hypercholesterolaemia is a hereditary disorder of lipoprotein metabolism which causes a lifelong increase in LDL-C levels resulting in premature coronary heart disease. The present review looks at some of the recent literature on how molecular methods can be used to assist in the definitive diagnosis of familial hypercholesterolaemia in a range of patient groups. Several recent studies have shown that the prevalence of clinical familial hypercholesterolaemia is higher than previously thought at 1/200 to 1/300, and that 2-5% of patients presenting with early myocardial infarction can be found to have a familial hypercholesterolaemia mutation. The present review then examines different approaches to molecular testing for familial hypercholesterolaemia including point mutation panels versus next-generation sequencing gene panels, and the range of genes tested by some of those panels. Finally, we review the recent evidence for polygenic hypercholesterolaemia within clinically defined familial hypercholesterolaemia patient populations. To identify patients with familial hypercholesterolaemia within clinically selected patient groups efficiently, a clinical scoring system should be combined with a molecular testing approach for mutations and for polygenic LDL-C single-nucleotide polymorphisms. Alternatively, a population screening methodology may be appropriate, using mutation testing at an early age before significant atherosclerosis has begun. The precise molecular testing method chosen may depend on the clinical presentation of the patient, and/or the population from which they arise.
Weber, P; Ruof, H; Jourdan, S
Visual hallucinations in children need a differential diagnostic effort. In a retrospective cohort study we identified all children, admitted to the Department of Neuropediatrics of a University Hospital between 1.1.2001 and 31.12.2003 suffering from visual hallucinations. All children underwent neurologic examination and electroencephalography (EEG). 14 children with visual hallucinations were identified. Disturbed perception of the size (9 of 14 cases), of the form (5 of 14 cases), and irregular perceptions of movements (5 of 14 cases) were most frequently reported. One child showed a transient hemihypesthesia, the only pathologic finding in the neurologic examination. Three children had features of hypersynchronic activity in EEG: one child undergoing immunosuppressive drug therapy and with a visual hallucination in context of a reversible posterior leucoencephalopathy showed a focal slow background activity, whereas three children had a sharp wave activity. Two of these children fulfilled the criteria for a focal epilepsy, one of them of the frontal lobe, one of the temporal lobe. Recurrent visual hallucinations are frequently transient and show clinical and pathophysiologic features reminiscent of infantile migraine. Psychic etiology, focal epilepsy and, under special circumstances, a reversible posterior leucoencephalopathy have to be considered when making a differential diagnosis.
Korponay-Szabó, Ilma R; Troncone, Riccardo; Discepolo, Valentina
Coeliac disease has for a long time simply been regarded as a gluten-dependent enteropathy and a duodenal biopsy was required in all patients for the diagnosis. It is now accepted that autoimmunity against transglutaminase 2 is an earlier, more universal and more specific feature of coeliac disease than histologic lesions. Moreover, high serum levels of combined anti-transglutaminase 2 and anti-endomysium antibody positivity have excellent predictive value for the presence of enteropathy with villous atrophy. This makes the histology evaluation of the gut no longer necessary in well defined symptomatic paediatric patients with compatible HLA-DQ2 and/or DQ8 background. The biopsy-sparing diagnostic route is not yet recommended by gastroenterologists for adults, and certain clinical circumstances (immunodeficiency conditions, extraintestinal manifestations, type-1 diabetes mellitus, age less than 2 years) may require modified diagnostic approaches. Coeliac patients with preserved duodenal villous structure do exist and these need a more extended evaluation by immunologic and molecular biology tools. Copyright © 2015 Elsevier Ltd. All rights reserved.
Vaezi, Michael F; Felix, Valter N; Penagini, Roberto; Mauro, Aurelio; de Moura, Eduardo Guimarães Hourneaux; Pu, Leonardo Zorrón Cheng Tao; Martínek, Jan; Rieder, Erwin
Achalasia is an esophageal motility disorder associated with abnormalities in peristalsis and lower esophageal sphincter (LES) relaxation. The etiology of the disease remains elusive. It is often misdiagnosed initially as gastroesophageal reflux disease. Patients with achalasia often complain of dysphagia to solids and liquids but may focus on regurgitation as the primary symptom, leading to the early misdiagnosis. Chest pain, weight loss, and occasional vomiting may be additional symptoms encountered in those with achalasia. The disease may be suspected on the basis of clinical presentation, but diagnosis depends on classic findings using high-resolution manometry, showing either failed or simultaneous contractions with associated normal or high LES pressures with no or incomplete relaxation with swallows. There are no cures for achalasia, and, in most patients, treatments have to be repeated over time. Definitive treatment options in achalasia include pneumatic dilation, surgical myotomy, and the new technique of per-oral endoscopic myotomy. Botulinum toxin (Botox) or other medical therapies are often reserved for those who cannot have definitive therapies owing to comorbid conditions. © 2016 New York Academy of Sciences.
Lawlor, Peter G.; Bush, Shirley H.
Purpose of review Our review focuses on recent developments across many settings regarding the diagnosis, screening and management of delirium, so as to inform these aspects in the context of palliative and supportive care. Recent findings Delirium diagnostic criteria have been updated in the long-awaited Diagnostic Statistical Manual of Mental Disorders, fifth edition. Studies suggest that poor recognition of delirium relates to its clinical characteristics, inadequate interprofessional communication and lack of systematic screening. Validation studies are published for cognitive and observational tools to screen for delirium. Formal guidelines for delirium screening and management have been rigorously developed for intensive care, and may serve as a model for other settings. Given that palliative sedation is often required for the management of refractory delirium at the end of life, a version of the Richmond Agitation-Sedation Scale, modified for palliative care, has undergone preliminary validation. Summary Although formal systematic delirium screening with brief but sensitive tools is strongly advocated for patients in palliative and supportive care, it requires critical evaluation in terms of clinical outcomes, including patient comfort. Randomized controlled trials are needed to inform the development of guidelines for the management of delirium in this setting. PMID:25004177
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
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.
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.
Ganss, Carolina; Lussi, Adrian
The clinical diagnosis 'erosion' is made from characteristic deviations from the original anatomical tooth morphology, thus distinguishing acid-induced tissue loss from other forms of wear. Primary pathognomonic features are shallow concavities on smooth surfaces occurring coronal from the enamel-cementum junction. Problems from diagnosing occlusal surfaces and exposed dentine are discussed. Indices for recording erosive wear include morphological as well as quantitative criteria. Currently, various indices are used, each having their virtues and flaws, making the comparison of prevalence studies difficult. The Basic Erosive Wear Examination (BEWE) is described, which is intended to provide an easy tool for research as well as for use in general dental practice. The cumulative score of this index is the sum of the most severe scores obtained from all sextants and is linked to suggestions for clinical management. In addition to recording erosive lesions, the assessment of progression is important as the indication of treatment measures depends on erosion activity. A number of evaluated and sensitive methods for in vitro and in situ approaches are available, but the fundamental problem for their clinical use is the lack of reidentifiable reference areas. Tools for clinical monitoring are described. © 2014 S. Karger AG, Basel.
Michels, Thomas C; Petersen, Keith E
Multiple myeloma accounts for 1.6% of all cancer cases and approximately 10% of hematologic malignancies in the United States. In 2015, an estimated 28,850 new cases of multiple myeloma were diagnosed in the United States, and the disease caused more than 11,000 deaths. Patients older than 65 years account for 85% of those diagnosed with multiple myeloma, and there is a twofold increased incidence in blacks compared with whites. Patients may present with bone pain or with symptoms that are often nonspecific, such as nausea, vomiting, malaise, weakness, recurrent infections, and weight loss. Many patients present with only laboratory abnormalities, such as anemia, renal disease, and elevated protein levels. The diagnosis of multiple myeloma requires increased numbers of immature, abnormal, or atypical plasma cells in the bone marrow; a monoclonal protein in the serum or urine; or characteristic bone lesions. The diagnostic workup in a patient with suspected multiple myeloma should include a complete blood count with differential; serum chemistries; creatinine, lactate dehydrogenase, and beta2-microglobulin tests; immunoglobulin studies; skeletal survey; and bone marrow evaluation. Initiation of chemotherapy and assessment of eligibility for autologous stem cell transplantation require referral to an oncologist. Most patients with multiple myeloma will receive thromboprophylaxis, bisphosphonate therapy, and prophylaxis against infection at some point in their treatment. Family physicians play a role in assessing these patients for infection, adverse treatment effects, and renal and thrombotic complications, and in managing issues related to pain, nutrition, and psychosocial support.
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.
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.
The treatment of homosexuality presents serious difficulties owing to its multifactorial aetiology and variety of psychopathological views. It is suggested that the combined use of psychiatric and psychoanalytic models can contribute to the establishment of a satisfactory differential diagnosis. Out of the innumerable clinical types seen in practice and described in the literature, three major groups can be isolated. The homosexuality which occurs on the background of hysterical, obsessional and other neurotic personality types and related psychiatric conditions, tends to be linked with latent heterosexuality and responds well to all forms of psychotherapy. On the other hand, true homosexuality is often the major presenting symptom of borderline states, narcissistic disorders, psychopathy and the schizo-affective psychoses and carries an unfavourable prognosis with any form of treatment. Cases of actual bisexuality form the third group with its own specific psychopathology. The homosexual solution is seen as a defence and is regarded as a matter of survival for many individuals. It should be treated with the utmost caution by anyone who attempts to remove it.
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
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. PMID:20511488
Aylıkcı, Bahadır Uğur; Çolak, Hakan
Halitosis is formed by volatile molecules which are caused because of pathological or nonpathological reasons and it originates from an oral or a non-oral source. It is very common in general population and nearly more than 50% of the general population have halitosis. Although halitosis has multifactorial origins, the source of 90% cases is oral cavity such as poor oral hygiene, periodontal disease, tongue coat, food impaction, unclean dentures, faulty restorations, oral carcinomas, and throat infections. Halitosis affects a person's daily life negatively, most of people who complain about halitosis refer to the clinic for treatment but in some of the people who can suffer from halitosis, there is no measurable halitosis. There are several methods to determine halitosis. Halitosis can be treated if its etiology can be detected rightly. The most important issue for treatment of halitosis is detection etiology or determination its source by detailed clinical examination. Management may include simple measures such as scaling and root planning, instructions for oral hygiene, tongue cleaning, and mouth rinsing. The aim of this review was to describe the etiological factors, prevalence data, diagnosis, and the therapeutic mechanical and chemical approaches related to halitosis. PMID:23633830
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.
Deli, Gabriella; Bosnyak, Edit; Pusch, Gabriella; Komoly, Samuel; Feher, Gergely
Changes in human behaviour and lifestyle over the last century have resulted in a dramatic increase in the incidence of diabetes worldwide. Neuropathy is a common and costly complication of both type 1 and type 2 diabetes. The prevalence of neuropathy is estimated to be about 8% in newly diagnosed patients and greater than 50% in patients with long-standing disease. There are two main types of diabetic neuropathies, named as sensorimotor and autonomic neuropathies. Sensorimotor neuropathy is marked by pain, paraesthesia and sensory loss, and autonomic neuropathy may contribute to myocardial infarction, malignant arrhythmia and sudden death. In this article we reviewed the pathogenesis, clinical manifestations diagnosis and treatment of diabetic neuropathies. Sensorimotor and autonomic neuropathies (cardiovascular, gastrointestinal and genitourinary autonomic neuropathies) are common in diabetic patients. Apart from strict glycaemic control, no further therapeutic approach exists in the prevention of this phenomenon. Intensive diabetes therapy, intensive multifactorial cardiovascular risk reduction and lifestyle intervention are recommended in patients with cardiovascular autonomic neuropathy. Gastroparesis is the most debilitating complication of gastrointestinal autonomic neuropathy and genitourinary autonomic neuropathy can cause sexual dysfunction and neurogenic bladder; these conditions are hard to manage. The symptomatic treatment of sensory symptoms includes tricyclic antidepressants, serotonin and norepinephrine reuptake inhibitors, gabapentin, pregabalin and opioids. Other treatment strategies are not so effective. © 2013 S. Karger AG, Basel.
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
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).
Turner syndrome occurs in one out of every 2,500 to 3,000 live female births. The syndrome is characterized by the partial or complete absence of one X chromosome (45,X karyotype). Patients with Turner syndrome are at risk of congenital heart defects (e.g., coarctation of aorta, bicuspid aortic valve) and may have progressive aortic root dilatation or dissection. These patients also are at risk of congenital lymphedema, renal malformation, sensorineural hearing loss, osteoporosis, obesity, diabetes, and atherogenic lipid profile. Patients usually have normal intelligence but may have problems with nonverbal, social, and psychomotor skills. Physical manifestations may be subtle but can include misshapen ears, a webbed neck, a broad chest with widely spaced nipples, and cubitus valgus. A Turner syndrome diagnosis should be considered in girls with short stature or primary amenorrhea. Patients are treated for short stature in early childhood with growth hormone therapy, and supplemental estrogen is initiated by adolescence for pubertal development and prevention of osteoporosis. Almost all women with Turner syndrome are infertile, although some conceive with assisted reproduction.
Marín Cañada, Jaime; Cubillo Serna, Ana; Gómez-Escalonilla Cruz, Nieves; Garzón de la Iglesia, Jesús; Benito Ortiz, Luis; Reyes Fernández, M Nieves
To determine the validity of the Centor score (cervical adenopathy, tonsillar exudate, fever, and absence of catarrh symptoms) in diagnosing streptococcal pharyngitis (gold standard: throat swab). Descriptive study. San Fernando 2 Health Centre, Madrid (outer urban area), Spain. On hundred forty patients over 14 years old who had a "sore throat" as main symptom and attended clinic between 14 February and 12 May, 2005. Sensitivity, specificity, positive and negative predictive values, and the probability quotients of the Centor score were determined. Pharyngeal throat culture was used as the reference method. Thirty four patients had positive throat culture (24.3%; 95% CI, 17.6%-32.4%). Finding the 4 criteria in the Centor score had a positive predictive value (PPV) of 48.1% (95% CI, 30.7%-66.0%) and a negative predictive value (NPV) of 81.4% (95% CI, 73.3%-87.5%); although only fever (OR, 3.64; 95% CI, 1.40-9.49) and tonsillar exudate (OR, 6.18; 95% CI, 2.08-18.35) were linked to streptococcal aetiology. The high NPV and specificity of the clinical score makes the diagnosis of non-streptococcal pharyngitis very accurate. However, the PPV is low: a high Centor score (3 or 4 criteria) does not mean streptococcal pharyngitis with certainty. What approach to take with patients suspected of streptococcal pharyngitis is not yet resolved (microbiological test, early antibiotic, or postponed antibiotic).
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.
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
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.
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. PMID:27257530
Helm, David T.; Miranda, Sara; Chedd, Naomi Angoff
A qualitative study of 10 mothers who received a prenatal diagnosis of Down syndrome and chose to continue their pregnancy examined how the diagnosis was presented, the decision to continue the pregnancy, and the mothers' experiences with professionals from diagnosis to delivery. Mothers' suggestions to others facing the same challenges and to…
Fodor, Janet Dean; Inoue, Atsu
To determine whether triage--which determines the probable revisability of a structure--is a feature of human parsing, its scope must be established. This study compares four hypotheses about how much work triage can do. Identifies empirical predictions that differentiate diagnosis with triage from simple basic diagnosis. What little evidence…
Delgado Oliva, F J; Domínguez Hinarejos, C; Serrano Durbá, S; Estornell Moragues, F; Martínez Verduch, M; García Ibarra, F
[corrected] To analize the clinical presentation, diagnosis and surgical management of congenital megaprepuce (CM). We have made a retrospective study of four cases of CM diagnosed and treated in our centre between october 1997 and april 2005. We studied the diagnosis and surgical treatment. CM is an infrecuent condition that can be confused with others pathologies. It's necessary to diagnose and treat it correctly.
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…
Hoshiko, Barbara R.
Describes an exercise in which junior year nursing students, who had just completed a course involving the introduction of nursing diagnosis, go to an art museum and look at art from the point of view of nursing diagnosis. The author examines student responses and whether certain goals were accomplished. (CT)
Tolstoĭ, A D; Bagnenko, S F; Krasnorogov, V B; Kurygin, A A; Grinev, M V; Lapshin, V N; Gol'tsov, V R
Protocols of diagnosis and treatment of acute pancreatitis are presented. Definition based on pathogenesis of the disease is given. Phases of acute pancreatitis, features of diagnosis and treatment in each phase are analyzed. Terms of surgical treatment, main principles of postoperative treatment are discussed.
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.
... fullstory_163189.html Exercise Rates Often Decline After Cancer Diagnosis But researchers say physical activity can improve recovery ... percent said they had increased their exercise since diagnosis. ASCO guidelines urge doctors to encourage cancer patients to participate in a moderate level of ...
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…
Diagnoses are the classification tools of medicine, and are pivotal in the ways medicine exerts its role in society. Their sociological study is commonly subsumed under the rubrics of medicalisation, history of medicine and theory of disease. Diagnosis is, however, a powerful social tool, with unique features and impacts which deserve their own specific analysis. The process of diagnosis provides the framework within which medicine operates, punctuates the values which medicine espouses, and underlines the authoritative role of both medicine and the doctor. Diagnosis takes place at a salient juncture between illness and disease, patient and doctor, complaint and explanation. Despite calls for its establishment, almost two decades ago (Brown 1990), there is not yet a clear sociology of diagnosis. This paper argues that there should be, and, as a first step, draws together a number of threads of medical sociology that potentially contribute to this proposed sociology of diagnosis, including the place of diagnosis in the institution of medicine, the social framing of disease definitions, the means by which diagnosis confers authority to medicine, and how that authority is challenged. Through this preliminary review, I encourage sociology to consider the specific role of diagnosis in view of establishing a specific sub-disciplinary field.
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.
Pinheiro, Victor E. D.; Simon, Herbert A.
The ability to diagnose motor skills is important for physical educators. The paper discusses processes critical in motor skill diagnosis, proposing an operational model of motor skill development diagnosis for teacher educators and practitioners. The model provides a foundation upon which to build instructional strategies for developing…
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)
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.
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.
This book presents a practical guide to the diagnosis and management of obstruction, both mechanical and organic, of the large and small bowel. Obstruction is a common problem for surgeons, and this text emphasizes differential diagnosis and the use of all radiologic modalities. It presents the surgical and medical considerations involved with gallstones, bezoars, parasites, tumors, inflammation, trauma, intussusception, more.
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...
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…
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…
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
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.
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%.
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.
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.
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.
Passarella, Stacy; Duong, Minh-Tri
The diagnostic criteria and treatment of insomnia are reviewed. Insomnia is most often described as a subjective complaint of poor sleep quality or quantity despite adequate time for sleep, resulting in daytime fatigue, irritability, and decreased concentration. Insomnia is classified as idiopathic or comorbid. Comorbid insomnias are associated with psychiatric disorders, medical disorders, substance abuse, and specific sleep disorders. Idiopathic insomnia is essentially a diagnosis of exclusion. A wide array of terminology exists for defining the duration of insomnia symptoms, which may add to the confusion regarding insomnia classification. Acute insomnia refers to sleep problems lasting from one night to a few weeks, whereas chronic insomnia refers to sleep problems lasting at least three nights weekly for at least one month. Diagnostic tools for identifying insomnia are multifactorial. Nonpharmacologic interventions for insomnia include sleep-hygiene education, stimulus-control therapy, relaxation therapy, and sleep-restriction therapy. The most effective pharmacologic therapies for insomnia are benzodiazepines, benzodiazepine-receptor agonists, melatonin-receptor agonists, and antidepressants. Choice of a specific agent should be based on patient-specific factors, including age, proposed length of treatment, primary sleep complaint, history of drug or alcohol abuse, and cost. Many treatment options are available for patients with insomnia. Behavioral therapies should be initiated as first-line treatment in most patients. For patients who require the addition of pharmacologic therapy, the drugs with the most evidence for benefit include benzodiazepines, benzodiazepine-receptor agonists, melatonin-receptor agonists, and antidepressants. Selection of a specific agent must take into account numerous patient-specific factors.
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.
Seronde, Marie-France; Laribi, Said; Collins, Sean P; Deye, Nicolas; Logeart, Damien; Plaisance, Patrick; Cohen-Solal, Alain; Mebazaa, Alexandre
Acute heart failure (AHF) is frequently encountered in the emergency department (ED) or in the cardiac care unit (CCU)/ICU. Discrimination between cardiac and noncardiac cause of dyspnea by clinical means and standard testing is sometimes inadequate. The aim of our study was to assess AHF diagnosis agreement as determined by: (a) the attending physician, (b) the hospital discharge diagnosis, and (c) an adjudication committee. Between 2010 and 2011, consecutive patients arriving for dyspnea in our hospital were prospectively included. A convenience sample of patients was enrolled in this analysis. Patients were admitted through the ED (280 patients) or through CCU/ICU (112 patients) for undifferentiated dyspnea. Overall, few differences were observed between the initial diagnosis and the hospital discharge diagnosis or the adjudicated diagnosis. Among the 200 patients with an initial diagnosis of AHF, hospital discharge diagnosis confirmed AHF (alone or combined) in 191 (95.5%) patients and the adjudication committee confirmed AHF (alone or combined) in 196 (98%) patients. Our study showed considerable agreement between different AHF diagnostic standards. An initial AHF diagnosis on the basis of clinical signs and biological parameters utilizing B-type natriuretic peptide testing has high agreement and accuracy with the hospital discharge and adjudicated diagnosis of AHF. The present study also shows that the accuracy of the initial AHF diagnosis allows rapid inclusion in AHF trials. These results, if confirmed in a broader cohort of patients, suggest that the initial ED diagnosis is highly accurate and reliable to guide further inpatient management.
Stansfeld, A. G.
The commonest presenting sign of acquired toxoplasmosis in man is enlargement of superficial lymph nodes. The persistence of the nodes may lead to a suspicion of malignant lymphoma and the diagnosis then hinges on the lymph node biopsy. Three cases of toxoplasmic lymphadenitis are described in each of which the diagnosis was unsuspected clinically. The chance discovery of a toxoplasma cyst in the lymph node section of Case 1 led to the correct diagnosis, after an initial diagnosis of Hodgkin's disease had been made. In the other two, strikingly similar histological changes in the lymph node biopsies suggested the diagnosis, which was confirmed serologically in each case. The histological changes are described and the clinical and pathological aspects of toxoplasmic lymphadenitis are briefly reviewed, with special reference to the differentiation from malignant lymphomatous conditions and to the specificity of the histological picture. It is concluded that the histology is, in many instances, sufficiently distinctive for a tentative diagnosis of toxoplasmic lymphadenitis to be made on the lymph node biopsy. The diagnosis should always be confirmed by isolation of the parasite or by serological tests. It is exceedingly rare for toxoplasma cysts to be found in lymph nodes and only one previous observation of this kind has been reported. Images PMID:16810977
Pacheco-Ojeda, Luis A; Martínez-Viteri, Miguel A
Carotid body tumors (CBTs) are relatively frequent lesions encountered at high altitudes, such in as the Andean Mountains. A correct preoperative diagnosis is essential for surgical planning and performance. For this reason, we have reviewed the evolution of our experience in the imaging diagnosis of these tumors. Between 1980 and June 2008, 160 CBTs were diagnosed. A total of 138 tumors were operated on, 4 are waiting for surgery, and 18 were not operated on because of age, medical conditions, or patient refusal. We have reviewed retrospectively the modalities of imaging diagnosis in our patients who underwent operation. Among the 138 tumors operated on, a correct preoperative diagnosis was done in 127 cases (92%). The preoperative diagnosis of the remaining 11 patients was unspecified benign tumor for 6 patients and neck lymph node for 5 patients. The imaging methods performed by different radiologists were conventional ultrasound, color Doppler ultrasound, carotid conventional angiography (CA), axial tomography, magnetic resonance and magnetic resonance angiography, and computed tomographic angiography (CTA). Most patients had more than one image study. Review of radiologist reports revealed a correct diagnosis in all carotid CA, magnetic resonance studies, and CTA. Additionally, CTA appeared to be a valuable method to predict the Shamblin group. Clinical suspicion and current image techniques permit a correct diagnosis in practically all cases of CBT.
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.
Ailes, Elizabeth C; Gilboa, Suzanne M; Riehle-Colarusso, Tiffany; Johnson, Candice Y; Hobbs, Charlotte A; Correa, Adolfo; Honein, Margaret A
Congenital heart defects (CHDs) occur in nearly 1% of live births. We sought to assess factors associated with prenatal CHD diagnosis in the National Birth Defects Prevention Study (NBDPS). We analyzed data from mothers with CHD-affected pregnancies from 1998 to 2005. Prenatal CHD diagnosis was defined as affirmative responses to questions about abnormal prenatal ultrasounds and fetal echocardiography obtained during a structured telephone interview. Fifteen percent (1097/7299) of women with CHD-affected pregnancies (excluding recognized syndromes and single-gene disorders) reported receiving a prenatal CHD diagnosis. Prenatal CHD diagnosis was positively associated with advanced maternal age, family history of CHD, type 1 or type 2 diabetes, twin or higher-order gestation, CHD complexity, and presence of extracardiac defects. Prenatal CHD diagnosis was inversely associated with maternal Hispanic race/ethnicity, prepregnancy overweight or obesity, and preexisting hypertension. Prenatal CHD diagnosis varied by time to NBDPS interview and NBDPS study site. Further work is warranted to identify reasons for the observed variability in maternal reports of prenatal CHD diagnosis and the extent to which differences in health literacy or health system factors such as access to specialized prenatal care and fetal echocardiography may account for such variability. © 2013 John Wiley & Sons, Ltd.
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.
Arnold, Lesley M.; Clauw, Daniel J.; McCarberg, Bill H.
Fibromyalgia (FM) is a chronic widespread pain disorder often seen in primary care practices. Advances in the understanding of FM pathophysiology and clinical presentation have improved the recognition and diagnosis of FM in clinical practice. Fibromyalgia is a clinical diagnosis based on signs and symptoms and is appropriate for primary care practitioners to make. The hallmark symptoms used to identify FM are chronic widespread pain, fatigue, and sleep disturbances. Awareness of common mimics of FM and comorbid disorders will increase confidence in establishing a diagnosis of FM. PMID:21531887
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.
Hissel, D.; Péra, M. C.; Kauffmann, J. M.
Most of car manufacturers around the world have launched important research programs on the integration of fuel cell (FC) power generators into cars. Despite the first achievements, fuel cell systems are still badly known, particularly when talking about fault diagnosis and predictive maintenance. This paper proposes a first step in this way by introducing a simple but also efficient diagnosis-oriented model of a proton exchange membrane fuel cell (PEMFC). The considered diagnosis model is here a fuzzy one and is tuned thanks to genetic algorithms.
Smati, B; Djilani, H; Boudaya, M S; Ghrib, B S; Mestiri, T; Mezni, F; Bouacha, H; Kilani, T
Pleural fibromas are rare malignant or benign tumors requiring pathology study for certain diagnosis. From January 1985 to January 2001, 7 patients underwent surgery in our unit for pleural fibroma: 4 females and 3 males, mean age 60 years. The inaugural symptoms were chest pain (3 patients), dyspnea (2 patients), joint pain in a patient with Pierre-Marie pneumonic hypertrophic osteo-arthropathy, and acute hypoglycemia. Radiological investigations were decisive in orienting the diagnosis (chest X-ray, ultrasound, computed tomography and MRI). Surgical resection and pathological study of the surgical specimen is required to confirm the diagnosis. Patients should be carefully followed due to the risk of malignant recurrence.
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.
Rice, H E; Adzick, N S
Prenatal diagnosis is a rapidly growing field that has supported new treatments for the developing fetus. Improved methods of diagnosing anatomic, biochemical, and molecular defects of the fetus have fostered a parallel growth of better techniques of fetal therapy. A fundamental knowledge of the basic uses and limitation of prenatal diagnosis is essential for the practicing pediatric surgeon. This review summarizes clinical uses and recent advances in various methods of prenatal diagnosis, including ultrasound, fetal echocardiography, amniocentesis, chorionic villus sampling, fetal blood sampling, alpha-fetoprotein, and DNA analysis. For each technique, the common indications, risks, and clinical utility are discussed.
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.
Cen, Y; Chen, J J
Scar is the common disease in the field of burn and plastic surgery, and its diagnosis and treatment should be involved in overwhelming majority hospitals. There are many substandard methods and medical hidden dangers in diagnosis and treatment of scar, due to the unevenness of doctors' clinical experience. According to the classification of integral scar and diabrotic scar, the problems related to diagnosis and treatment of scar are systemically summarized and normalized in this article for decrease in the incidence of adverse events and medical hidden dangers.
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.
Martins, Regina Helena Garcia; do Amaral, Henrique Abrantes; Tavares, Elaine Lara Mendes; Martins, Maira Garcia; Gonçalves, Tatiana Maria; Dias, Norimar Hernandes
Voice disorders affect adults and children and have different causes in different age groups. The aim of the study is to present the etiology and diagnosis dysphonia in a large population of patients with this voice disorder.for dysphonia of a large population of dysphonic patients. We evaluated 2019 patients with dysphonia who attended the Voice Disease ambulatories of a university hospital. Parameters assessed were age, gender, profession, associated symptoms, smoking, and videolaryngoscopy diagnoses. Of the 2019 patients with dysphonia who were included in this study, 786 were male (38.93%) and 1233 were female (61.07). The age groups were as follows: 1-6 years (n = 100); 7-12 years (n = 187); 13-18 years (n = 92); 19-39 years (n = 494); 41-60 years (n = 811); and >60 years (n = 335). Symptoms associated with dysphonia were vocal overuse (n = 677), gastroesophageal symptoms (n = 535), and nasosinusal symptoms (n = 497). The predominant professions of the patients were domestic workers, students, and teachers. Smoking was reported by 13.6% patients. With regard to the etiology of dysphonia, in children (1-18 years old), nodules (n = 225; 59.3%), cysts (n = 39; 10.3%), and acute laryngitis (n = 26; 6.8%) prevailed. In adults (19-60 years old), functional dysphonia (n = 268; 20.5%), acid laryngitis (n = 164; 12.5%), and vocal polyps (n = 156; 12%) predominated. In patients older than 60 years, presbyphonia (n = 89; 26.5%), functional dysphonia (n = 59; 17.6%), and Reinke's edema (n = 48; 14%) predominated. In this population of 2019 patients with dysphonia, adults and women were predominant. Dysphonia had different etiologies in the age groups studied. Nodules and cysts were predominant in children, functional dysphonia and reflux in adults, and presbyphonia and Reinke's edema in the elderly. Copyright Â© 2016 The Voice Foundation. Published by Elsevier Inc. All rights reserved.
Piaton, J-M; Keller, P; Sahel, J-A; Nguyen, R; Quesnot, S
The purpose of this study was to assess the value of two new clinical findings for the diagnosis of dacryolithiasis discovered with nasal endoscopy: anatomical abnormalities of the Hasner valve (HV) and mucopurulent discharge visible at this valve. The value of these findings is compared with other clinical and radiological signs of dacryolithiasis. A hypothesis is developed as to the responsibility of the HV in the formation of dacryolithiasis. This study was prospective and based on 797 operations performed for epiphora: 647 endonasal dacryocystorhinostomies and 150 meatotomies of the HV, with systematic preoperative nasal videoendoscopy. Ninety dacryocystographies (DCGs) and 129 lacrimal computed tomographies (LCT) were preoperatively performed. Dacryoliths were found in 55 of 797 patients (6.9%). The HV could be examined in 48 patients in the lithiasis group and in 687 patients in the control group. Mucopurulent discharge was observed in 22 patients with lithiasis (45.8%) and in 40 patients (5.8%) (p<10(-6)) of the control group. Anatomical abnormalities of the HV were found in 40 patients with dacryolithiasis (83.3%) as compared to 82 patients ing the control group (11.4%) (p<10(-6)). In 13 patients, the VH was very small (<2 mm), in 12 patients it was very long (>15 mm), and in 15 patients both abnormalities were observed. Other clinical signs were young age (mean, 48.2 years vs 59.1% in the control group) (p<0.05), a history of acute noninfectious dacryocystic retention (38.2% vs 9.5%) (p<10(-5)), partial obstruction of the lacrimal pathway (LP) (61.8% vs 30.5%) (p<10(-5)). The 28 LCTs that were performed in subjects who had lithiasis made it possible to diagnose 19 cases of dacryolithiasis and confirmed abnormalities of the HV causing narrowing of the LP in 20. Dacryolithiasis is frequent and often misdiagnosed. When dacryolithiasis is suspected, a nasal videoendoscopic exam must be done to seek HV abnormalities and mucopurulent discharge at this valve
Lardière-Deguelte, S; Ragot, E; Amroun, K; Piardi, T; Dokmak, S; Bruno, O; Appere, F; Sibert, A; Hoeffel, C; Sommacale, D; Kianmanesh, R
Microbial contamination of the liver parenchyma leading to hepatic abscess (HA) can occur via the bile ducts or vessels (arterial or portal) or directly, by contiguity. Infection is usually bacterial, sometimes parasitic, or very rarely fungal. In the Western world, bacterial (pyogenic) HA is most prevalent; the mortality is high approaching 15%, due mostly to patient debilitation and persistence of the underlying cause. In South-East Asia and Africa, amebic infection is the most frequent cause. The etiologies of HA are multiple including lithiasic biliary disease (cholecystitis, cholangitis), intra-abdominal collections (appendicitis, sigmoid diverticulitis, Crohn's disease), and bile duct ischemia secondary to pancreatoduodenectomy, liver transplantation, interventional techniques (radio-frequency ablation, intra-arterial chemo-embolization), and/or liver trauma. More rarely, HA occurs in the wake of septicemia either on healthy or preexisting liver diseases (biliary cysts, hydatid cyst, cystic or necrotic metastases). The incidence of HA secondary to Klebsiella pneumoniae is increasing and can give rise to other distant septic metastases. The diagnosis of HA depends mainly on imaging (sonography and/or CT scan), with confirmation by needle aspiration for bacteriology studies. The therapeutic strategy consists of bactericidal antibiotics, adapted to the germs, sometimes in combination with percutaneous or surgical drainage, and control of the primary source. The presence of bile in the aspirate or drainage fluid attests to communication with the biliary tree and calls for biliary MRI looking for obstruction. When faced with HA, the attending physician should seek advice from a multi-specialty team including an interventional radiologist, a hepatobiliary surgeon and an infectious disease specialist. This should help to determine the origin and mechanisms responsible for the abscess, and to then propose the best appropriate treatment. The presence of chronic
Wright, K W
PURPOSE: To better understand the various etiologies of Brown's syndrome, define specific clinical characteristics of Brown's syndrome, describe the natural history of Brown's syndrome, and evaluate the longterm outcome of a novel surgical procedure: the silicone tendon expander. Also, to utilize a computer model to simulate the pattern of strabismus seen clinically with Brown's syndrome and manipulate the model to show potential surgical outcomes of the silicone tendon expander. METHODS: Charts were reviewed on patients with the diagnosis of Brown's syndrome seen at a children's hospital ophthalmology clinic from 1982 to 1997, or seen in the author's private practice. Objective fundus torsion was assessed in up gaze, down gaze, and primary position in 7 Brown's syndrome patients and in 4 patients with primary superior oblique overaction. A fax survey was taken of members of the American Association of Ophthalmology and Strabismus (AAPOS) listed in the 1997-1998 directory regarding their results using the silicone tendon expander procedure for the treatment of Brown's syndrome. A computer model of Brown's syndrome was created using the Orbit 1.8 program by simulating a shortened superior oblique tendon or by changing stretch sensitivity to create an inelastic muscle. RESULTS: A total of 96 patients were studied: 85 with Brown's syndrome (38 with congenital and 47 with acquired disease), 6 with masquerade syndromes, 1 with Brown's syndrome operated on elsewhere, and 4 with primary superior oblique overaction in the torsion study. Three original clinical observations were made: 1. Significant limitation of elevation in abduction occurs in 70% of Brown's syndrome cases surgically verified as caused by a tight superior oblique tendon. Contralateral pseudo-inferior oblique overaction is associated with limited elevation in abduction. 2. Traumatic Brown's syndrome cases have larger hypotropias than nontraumatic cases (P < .001). There was no significant hypotropia in
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.
... En Español Category Cancer A-Z Breast Cancer Breast Cancer Early Detection and Diagnosis Breast cancer is sometimes ... cancer screening is so important. Learn more. Can Breast Cancer Be Found Early? Breast cancer is sometimes found ...
... when someone experiences a mental illness and a substance abuse problem simultaneously. Dual diagnosis is a very broad ... person abuses heroin during periods of mania. Either substance abuse or mental illness can develop first. A person ...
Wilmer, Martijn J.; Schoeber, Joost P.; van den Heuvel, Lambertus P.
Cystinosis is the major cause of inherited Fanconi syndrome, and should be suspected in young children with failure to thrive and signs of renal proximal tubular damage. The diagnosis can be missed in infants, because not all signs of renal Fanconi syndrome are present during the first months of life. In older patients cystinosis can mimic idiopathic nephrotic syndrome due to focal and segmental glomerulosclerosis. Measuring elevated white blood cell cystine content is the corner stone for the diagnosis. The diagnosis is confirmed by molecular analysis of the cystinosin gene. Corneal cystine crystals are invariably present in all patients with cystinosis after the age of 1 year. Treatment with the cystine depleting drug cysteamine should be initiated as soon as possible and continued lifelong to prolong renal function survival and protect extra-renal organs. This educational feature provides practical tools for the diagnosis and treatment of cystinosis. PMID:20734088
Müller, T; Jerrentrup, A; Schäfer, J R
To establish a comprehensive diagnosis is by far the most challenging task in a physician's daily routine. Especially rare diseases place high demands on differential diagnosis, caused by the high number of around 8000 diseases and their clinical variability. No clinician can be aware of all the different entities and memorizing them all is impossible and inefficient. Specific diagnostic decision-supported systems provide better results than standard search engines in this context. The systems FindZebra, Phenomizer, Orphanet, and Isabel are presented here concisely with their advantages and limitations. An outlook is given to social media usage and big data technologies. Due to the high number of initial misdiagnoses and long periods of time until a confirmatory diagnosis is reached, these tools might be promising in practice to improve the diagnosis of rare diseases.
Álvarez Estévez, Marta; Reina González, Gabriel; Aguilera Guirao, Antonio; Rodríguez Martín, Carmen; García García, Federico
This document attempts to update the main tasks and roles of the Clinical Microbiology laboratory in HIV diagnosis and monitoring. The document is divided into three parts. The first deals with HIV diagnosis and how serological testing has changed in the last few years, aiming to improve diagnosis and to minimize missed opportunities for diagnosis. Technological improvements for HIV Viral Load are shown in the second part of the document, which also includes a detailed description of the clinical significance of low-level and very low-level viremia. Finally, the third part of the document deals with resistance to antiretroviral drugs, incorporating clinical indications for integrase and tropism testing, as well as the latest knowledge on minority variants. Copyright © 2014 Elsevier España, S.L.U. y Sociedad Española de Enfermedades Infecciosas y Microbiología Clínica. All rights reserved.
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.
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
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
... 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 ...
Skip Navigation Bar Home Current Issue Past Issues HIV / AIDS HIV / AIDS: Symptoms , Diagnosis, Prevention and Treatment Past Issues / ... Most people who have become recently infected with HIV will not have any symptoms. They may, however, ...
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.
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.
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
Burlui, V; Rädäuceanu, C; Orhei, G; Dumitraşcu, C
The program is very useful by its rapidity, reliability and releasing the dentist from calculating the multiple variants of some clinico-biological indices. The computer-assisted gnatho-prosthetic diagnosis also makes possible a more adequate therapeutical plan.
... news/fullstory_165864.html Suicide Risk Quadruples After Lung Cancer Diagnosis Doctors, loved ones need to be on ... TUESDAY, May 23, 2017 (HealthDay News) -- People with lung cancer have a strikingly higher-than-normal risk of ...
Donini, L M; Marsili, D; Graziani, M P; Imbriale, M; Cannella, C
To validate a questionnaire for the diagnosis of orhorexia oervosa, an eating disorder defined as "maniacal obsession for healthy food". 525 subjects were enrolled. Then they were randomized into two samples (sample of 404 subjects for the construction of the test for the diagnosis of orthorexia ORTO-15; sample of 121 subjects for the validation of the test). The ORTO-15 questionnaire, validated for the diagnosis of orthorexia, is made-up of 15 multiple-choice items. The test we proposed for the diagnosis of orthorexia (ORTO 15) showed a good predictive capability at a threshold value of 40 (efficacy 73.8%, sensitivity 55.6% and specificity 75.8%) also on verification with a control sample. However, it has a limit in identifying the obsessive disorder. For this reason we maintain that further investigation is necessary and that new questions useful for the evaluation of the obsessive-compulsive behavior should be added to the ORTO-15 questionnaire.
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.
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.
... Products For Consumers Home For Consumers Consumer Updates Hearing Loss Signals Need for Diagnosis Share Tweet Linkedin ... you’re talking loudly? Thinking about ordering a hearing aid or sound amplifier from a magazine or ...
Stein, Paul D; Sostman, H Dirk; Dalen, James E; Bailey, Dale L; Bajc, Marika; Goldhaber, Samuel Z; Goodman, Lawrence R; Gottschalk, Alexander; Hull, Russell D; Matta, Fadi; Pistolesi, Massimo; Tapson, Victor F; Weg, John G; Wells, Philip S; Woodard, Pamela K
The approach to the diagnosis of acute pulmonary embolism (PE) is under constant revision with advances in technology, noninvasive approaches, and increasing awareness of the risks of ionizing radiation. Optimal approaches in some categories of patients are controversial. Data are insufficient for evidence-based recommendations. Therefore, this survey of investigators in the field was undertaken. Even among experts there were marked differences of opinion regarding the approach to the diagnosis of acute PE. Although CT pulmonary angiography was usually the imaging test of choice, the respondents were keenly aware of the dangers of ionizing radiation. In view of advances in scintigraphic diagnosis since the Prospective Investigation of Pulmonary Embolism Diagnosis (PIOPED) trial, ventilation/perfusion (V/Q) lung scans or perfusion scans alone and single photon emission computed tomography (SPECT) V/Q lung scans are often recommended. The choice depends on the patient's age, gender, and complexity of the findings on the plain chest radiograph.
Killen, Stacy A S; Mouledoux, Jessica H; Kavanaugh-McHugh, Ann
Fetal cardiology is a rapidly evolving field. Imaging technology continues to advance as do approaches to in-utero interventions and care of the critically ill neonate, with even greater demand for improvement in prenatal diagnosis of congenital heart disease (CHD) and arrhythmias. Reviewing the advances in prenatal diagnosis of CHD in such a rapidly developing field is a broad topic. Therefore, we have chosen to focus this review of recent literature on challenges in prenatal detection of CHD, challenges in prenatal counseling, advances in fetal arrhythmia diagnosis, and potential benefits to patients with CHD who are identified prenatally. As methods and tools to diagnose and manage CHD and arrhythmias in utero continue to improve, future generations will hopefully see a reduction in both prenatal and neonatal morbidity and mortality. Prenatal diagnosis can and should be used to optimize location and timing of delivery and postnatal interventions.
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.
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. Copyright © 2016 SERAM. Publicado por Elsevier España, S.L.U. All rights reserved.
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
Heymann, Roberto E; Paiva, Eduardo S; Martinez, José Eduardo; Helfenstein, Milton; Rezende, Marcelo C; Provenza, Jose Roberto; Ranzolin, Aline; Assis, Marcos Renato de; Feldman, Daniel P; Ribeiro, Luiz Severiano; Souza, Eduardo J R
To establish guidelines based on scientific evidence for the diagnosis of fibromyalgia. Evidence collection was performed based on 9 questions regarding the diagnosis of fibromyalgia, structured using the Patient, Intervention or Indicator, Comparison and Outcome (P.I.C.O.), with searches in the main, primary databases of scientific information. After defining the potential studies to support the recommendations, they were graded according to evidence and degree of recommendation. Copyright © 2017. Published by Elsevier Editora Ltda.
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.
Patel, Nikhil; Amarapurkar, Deepak; Agal, Subhash; Baijal, Rajiv; Kulshrestha, Pramod; Pramanik, Snehansu; Gupte, Parijat
To study the profile of gastrointestinal luminal tuberculosis (GITB) patients who have been treated on a confirmed and a presumptive diagnosis. A total of 260 patients who had an initial diagnosis of GITB were included in this retrospective analysis. Clinical, radiologic, endoscopic, histopathologic and microbiologic features of these patients were studied in detail. GITB was confirmed in 66.5% patients (cGITB), while 29.5% had presumed GITB (pGITB). In 3.9% patients, Crohn's disease (CD) was misdiagnosed initially as GITB. There was no significant difference in the clinical and radiologic features except a higher incidence of a radiologically abnormal ileocecal region in cGITB patients. Endoscopic biopsies from ulcerated masses and ulcers had the highest yield of confirmation (100% and 68%, respectively) when subjected to histopathology, acid-fast bacilli smear and culture studies. Confirmed diagnosis was obtained in 100% of cases occurring in the upper gastrointestinal tract, 66% of cases in the ileocecal region/colon and 40% of cases that had small bowel involvement. In 21% of cases, extraluminal sites helped to confirm the diagnosis. As the presence of diarrhea, bleeding, fistulae, perianal disease and extraintestinal manifestations favored a diagnosis of CD, the presence of these features initially or on subsequent follow up helped to minimize the misdiagnosis of GITB. As a differential diagnosis, CD must be ruled out before starting treatment for GITB. In our study, an intense search for histologic and microbiologic proof of the presence of TB from luminal and extraluminal sites established the diagnosis in 66.5% of cases. Surgery for establishing the diagnosis should be reserved for complicated cases.