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Timely Diagnosis (timely + diagnosis)
Selected AbstractsIn vivo real-time diagnosis of nasopharyngeal carcinoma in situ by contact rhinoscopyHEAD & NECK: JOURNAL FOR THE SCIENCES & SPECIALTIES OF THE HEAD AND NECK, Issue 11 2005Martin Wai Pak FRCSEd(ORL) Abstract Background. Nasopharyngeal dysplasia or nasopharyngeal carcinoma in situ (NPCIS) lesions have rarely been reported. Timely diagnosis of the preinvasive lesion may improve prognosis. Contact endoscopy has been documented to accurately differentiate normal cells of the nasopharynx from malignant cells and allows a real-time diagnosis of primary and recurrent nasopharyngeal carcinoma (NPC) in a clinical setting. However, the role of contact endoscopy in the diagnosis of NPCIS is unknown. Methods. The superficial cells of the nasopharynx in a patient with NPCIS were examined in vivo under local anaesthesia by use of a contact rhinoscope. The contact endoscopic findings were correlated with the histologic findings of the biopsy. Results. The atypical cells of the lesion were magnified and visualized under contact endoscopy. Histopathologic analysis of the biopsied tissue confirmed the presence of NPCIS staining positively for Epstein-Barr virus (EBV),encoded RNA (EBER). No cell-free EBV DNA was detected in the sera of the patient. Conclusions. Contact endoscopy can accurately identify the atypical cells of a tiny preinvasive lesion in the nasopharynx in a clinical setting, which may not be evident in routine imaging examination. © 2005 Wiley Periodicals, Inc. Head Neck27: XXX,XXX, 2005 [source] A prospective study of diagnosis of Toxoplasma gondii infection after bone marrow transplantation,APMIS, Issue 5 2008BENJAMIN EDVINSSON Active infection with Toxoplasma gondii in immunocompromised transplant recipients can lead to toxoplasmosis, which may have a rapid disease course and in some cases be fatal. It is of paramount importance to diagnose toxoplasmosis at an early stage, and to initiate specific treatment to improve the outcome. Polymerase chain reaction (PCR) is today the primary diagnostic tool to diagnose toxoplasmosis in immunocompromised patients. Timely diagnosis may, however, be difficult if toxoplasmosis is at first asymptomatic. To investigate the magnitude of toxoplasmosis after bone marrow transplantation (BMT), we conducted a screening study by PCR where 21 autologous and 12 allogeneic BMT recipients were included. Peripheral blood samples were taken one week prior to BMT; thereafter, blood samples were drawn weekly for the first 6 months, and monthly up to one year after BMT. The samples were analyzed by conventional PCR and real-time PCR. T. gondii DNA was detected in peripheral blood from one patient 5 days post allogeneic BMT. There were no clinical signs of toxoplasmosis. Medical records were reviewed and showed a previously undiagnosed eye infection in another allogeneic BMT recipient. These two patients were seropositive for T. gondii. We concluded that monitoring for T. gondii DNA in peripheral blood samples using PCR might be a valuable method for identifying toxoplasma-seropositive stem cell transplant recipients. [source] Periungual Basal Cell Carcinoma: Case Report and Literature ReviewDERMATOLOGIC SURGERY, Issue 2 2006PAUL T. MARTINELLI MD BACKGROUND Basal cell carcinoma, the most common malignancy in humans, rarely occurs on the nail unit and may be frequently misdiagnosed clinically. OBJECTIVES To present a case of basal cell carcinoma of the nail unit successfully treated with the mohs technique and to review the literature regarding this unique presentation of this tumor. MATERIALS AND METHODS: Case report and review of the English literature of nail unit basal cell carcinoma. RESULTS In addition to the currently described patient, 17 other patients with nail unit basal cell carcinaoma have been reported. The tumor occurred approximately 3 times more often on the fingers then on the toes and had a slight predilection to occur in men. Ulceration, noted in more than one-half of patients, was the most common presentation of nail unit basal cell carcinoma. Mohs micrographic surgery. Often with second intention healing, was successfully employed in 39% of patients. CONCLUSIONS Basal cell carcinaom infrequently involves the nail unit and often presents as ulceration. Adequate biopsy of the lesion is essential in making a timely diagnosis. Mohs micrographic surgery with second intension healing is an effective treatment that may offer excellent cosmetic and functional results. [source] Ethnic differences in the timely diagnosis of children with Type 1 diabetes mellitus in the Netherlands: clinical presentation at onsetDIABETIC MEDICINE, Issue 3 2007J. J. N. Van Laar Abstract Aims Little is known about ethnic differences in the timely diagnosis of Type 1 diabetes mellitus (Type 1 DM). This study aimed to assess ethnic inequalities in the timely diagnosis of Type 1 DM, as indicated by a more adverse clinical condition at onset. In addition, we assessed whether these differences could be explained by differences in socio-economic status. Methods From a national register, we selected 3128 children aged < 15 years with newly diagnosed Type 1 DM. Ethnic differences in serum glucose, blood pH, bicarbonate, presence of ketonuria, level of consciousness, hydration status, and diabetic ketoacidosis were assessed by logistic regression. A measure of socio-economic status based on postal codes was used as an explanatory variable. Results The risk of adverse clinical presentation was 1.5,2 times higher in non-Western immigrants than Dutch children, while Western immigrant children did not differ from Dutch children. Blood pH, bicarbonate level, and level of consciousness were lower in Turkish and Antillean children in particular. The adverse socio-economic position of immigrant children contributed very little to these differences in clinical presentation. Conclusions Non-Western children were likely to be sicker at first presentation of Type 1 DM, and thus diagnosis may have been delayed. These disparities were not accounted for by differences in socio-economic status. Possible explanations may be difficulties in recognition of symptoms, failure of GPs to take symptom reporting seriously and lack of awareness of the fact that Type 1 DM occurs more often in certain ethnic groups. [source] Cancer cachexia syndrome in head and neck cancer patients: Part I. Diagnosis, impact on quality of life and survival, and treatmentHEAD & NECK: JOURNAL FOR THE SCIENCES & SPECIALTIES OF THE HEAD AND NECK, Issue 4 2007Marion Couch MD Abstract Background Cancer cachexia is a debilitating, wasting condition that affects many cancer patients, including those with head and neck cancer. The overall incidence of cancer cachexia is quite high for some types of cancer, and cachexia will be the main cause of death for more than 20% of all cancer patients. This syndrome uniquely challenges patients with head and neck cancer. This article outlines the diagnosis of cancer cachexia, reviews its impact on patient quality of life (QOL) and survival, and updates the reader on potential therapies that may suppress it. Methods A comprehensive literature search was performed using PubMed of the National Library of Medicine, which includes more than 15 million citations back to the 1950s. The Cochrane Library and Google search engine were used as well. Results This syndrome differs significantly from starvation, and thus accurate and timely diagnosis is essential. Nutritional therapy alone is insufficient. Current management strategies include corticosteroids and megesterol acetate, in conjunction with nutritional therapy. Future strategies may include nutraceuticals, omega-3 fatty acids, inflammatory antagonists, and other targeted treatments. Conclusions Because cancer cachexia differs significantly from starvation, nutritional supplementation must be used in conjunction with other anti-cachexia agents to reverse the chronic systemic inflammatory state and the effects of circulating tumor-derived factors seen in cachexia. Careful identification of patients at risk and those suffering from this syndrome will lead to better outcomes and treatments. Ultimately, more research is needed to better treat this devastating condition. © 2007 Wiley Periodicals, Inc. Head Neck, 2007 [source] Necrotizing fasciitis of the head and neck: A report of two patients and reviewHEAD & NECK: JOURNAL FOR THE SCIENCES & SPECIALTIES OF THE HEAD AND NECK, Issue 5 2002Deowall Chattar-Cora MD Abstract Background Necrotizing fasciitis is a disfiguring condition that can be fatal. The head and neck region is rarely affected. However, when involved, the functional and cosmetic sequelae can be considerable. Materials and Methods We present two case histories, discuss salient diagnostic points, treatment, and review published data on this topic. Results With a timely diagnosis we were able to diagnose and appropriately treat these patients. Conclusions Necrotizing fasciitis is a disfiguring condition that can be fatal if not diagnosed in a timely fashion. Diagnosis and treatment require a high index of suspicion, immediate operative intervention, broad-spectrum antibiotics, and appropriate supportive care. © 2002 Wiley Periodicals, Inc. [source] Fabry Disease: Treatment and diagnosisIUBMB LIFE, Issue 11 2009Paula A. Rozenfeld Abstract Fabry disease is an X-linked lysosomal disorder that results from a deficiency of the lysosomal enzyme ,-galactosidase A leading to accumulation of glycolipids, mainly globotriaosylceramide in the cells from different tissues. Classical Fabry disease affects various organs. Clinical manifestations start at early age and include angiokeratoma, acroparesthesia, hypohydrosis, heat/exercise intolerance, gastrointestinal pain, diarrhea, and fever. The main complications of Fabry disease are more prominent after the age of 30 when kidney, heart, and/or cerebrovascular disorders appear. Most of the heterozygous females are symptomatic. Enzyme replacement therapy (ERT) is the only specific treatment for Fabry disease. The beneficial effect of ERT on different organs/systems has been extensively evaluated. Quality of life of patients receiving ERT is improved. Enzyme replacement stabilizes or slows the decline in renal function and reduces left ventricular hypertrophy. Fabry disease may be underdiagnosed because of nonspecific and multiorgan symptoms. Different screening strategies have been carried out in different at-risk populations in order to detect undiagnosed Fabry patients. An increasing knowledge about Fabry disease within the medical community increases the chances of patients to receive a timely diagnosis and, consequently, to access the appropriate therapy. © 2009 IUBMB IUBMB Life, 61(11): 1043,1050, 2009 [source] Cancer and Intellectual Disability: A Review of Some Key Contextual IssuesJOURNAL OF APPLIED RESEARCH IN INTELLECTUAL DISABILITIES, Issue 6 2008James Hogg Research into the health of people with intellectual disabilities has increasingly focused on the occurrence of cancer in this population. Information on the incidence and prevalence of cancer is reviewed in both institutional and community settings. Examples of environmental causation are considered including Helicobacter pylori. Gender-specific issues are considered with respect to both women and men, and screening services discussed. The overall issue of timely diagnosis of cancer in members of this population is reviewed with special reference to avoidable deaths. The need for methodologically sound studies to clarify the epidemiology of cancer in people with intellectual disabilities is discussed. [source] Diagnostic and treatment delays in recurrent clostridium difficile,associated diseaseJOURNAL OF HOSPITAL MEDICINE, Issue 2 2008Danielle Scheurer MD Abstract BACKGROUND: Because Clostridium difficile,associated disease (CDAD) is primarily an inpatient issue, hospitalists are at the forefront of the timely diagnosis and treatment of patients with this disease. DESIGN: The study was a retrospective cohort of all inpatients with CDAD at Brigham and Women's Hospital from 1997 to 2004 in order to determine the time to diagnosis and treatment in initial and recurrent episodes of disease. RESULTS: The mean time to sampling, between 2.09 and 2.24 days, was not significantly different between initial and recurrent CDAD hospital episodes. The mean time to treatment (from symptoms and sampling) was shorter in recurrent episodes but was still 2.5 days. CONCLUSIONS: Patients with recurrent disease were more likely to be treated earlier but not diagnosed earlier than those with initial disease. Because both groups had significant diagnostic and treatment delays, this is an area in which hospitalists can have a major impact on patient care. Journal of Hospital Medicine 2008;3:156,159. © 2008 Society of Hospital Medicine. [source] Against the grain: An overview of celiac diseaseJOURNAL OF THE AMERICAN ACADEMY OF NURSE PRACTITIONERS, Issue 5 2008FNP-C Clinical Instructor, Suzanne Martin RN Abstract Purpose: To review the epidemiology, pathophysiology, clinical presentation, diagnosis, and management of celiac disease (CD). Data sources: Review of literature using Pub Med and Access Medicine. The following search terms were used: celiac disease, malabsorption syndromes, diarrhea, and gluten-free diet (GFD). There was no limitation placed on publication year. Only articles written in English were included. Conclusions: CD is a chronic systemic autoimmune disorder triggered in genetically susceptible individuals by the ingestion of gluten proteins (wheat, barley, and rye). CD often presents atypically, and diagnosis delays are common. Currently, the only effective treatment for CD is strict adherence to a GFD. This is a difficult diet to comprehend and follow. Adherence to a GFD requires ongoing education and support from a multidisciplinary healthcare team, support groups, family, and friends. Implications for practice: Once considered a rare disease of childhood, CD is now recognized as a common disorder that can occur at any age. Clinicians need to be cognizant of risk factors, clinical manifestations, conditions, and complications associated with CD in order to make a timely diagnosis, ameliorate symptoms, and minimize disease complications. [source] Cutaneous Manifestations of Cystic FibrosisPEDIATRIC DERMATOLOGY, Issue 2 2008Megan L. Bernstein M.D. Classic disease findings include chronic bacterial infection of airways and sinuses, malabsorption of fat, infertility in men, and elevated concentrations of chloride in sweat. Less well-recognized findings associated with cystic fibrosis include cutaneous findings, which can be primary or secondary manifestations of the disease process. Patients demonstrate more atopic and drug hypersensitivity reactions than the general population, but have similar rates of urticaria compared with the general population. In atypical presentations of cystic fibrosis, the nutrient deficiency dermatitis of the disease may aid with diagnosis, and notably can be the presenting sign. Other dermatologic manifestations of cystic fibrosis include early aquagenic skin wrinkling and cutaneous vasculitis, which can be associated with arthralgias. Familiarity with the nutrient deficiency dermatitis of this entity may play a role in the timely diagnosis of the disease, and the other cutaneous findings add to our understanding of the protean nature of its manifestations. [source] Unique Characteristics of Emergency Care Research: Scope, Populations, and InfrastructureACADEMIC EMERGENCY MEDICINE, Issue 10 2009D. Mark Courtney MD Abstract The National Institutes of Health (NIH) Clinical and Translational Science Awards (CTSA) program and the 2006 Institute of Medicine (IOM) Report on the future of emergency care highlight the need for coordinated emergency care research (ECR) to improve the outcomes of acutely ill or injured patients. In response, the Society for Academic Emergency Medicine (SAEM) and the American College of Emergency Physicians (ACEP) sponsored the Emergency Care Research Network (ECRN) Conference in Washington, DC, on May 28, 2008. The conference objectives were to identify the unique nature of ECR and the infrastructure needed to support ECR networks and to understand the optimal role of emergency medicine (EM) and other acute care specialties in research networks. Prior to the conference, participants responded to questions addressing the relevant issues that would form the basis of breakout session discussions; two of these breakout questions are summarized in this report: 1) what makes EM research unique? and 2) what are the critical components needed to establish and maintain networked ECR? Emergency care research was defined as "the systematic examination of patient care that is expected to be continuously available to diverse populations presenting with undifferentiated symptoms of acute illness, or acutely decompensated chronic illness, and whose outcomes depend on timely diagnosis and treatment." The chain of ECR may extend beyond the physical emergency department (ED) in both place and time and integrate prehospital care, as well as short- and long-term outcome determination. ECR may extend beyond individual patients and have as the focus of investigation the actual system of emergency care delivery itself and its effects on the community with respect to access to care, use of resources, and cost. Infrastructure determinants of research network success identified by conference participants included multidisciplinary collaboration, accurate long-term outcome determination, novel information technology, intellectual infrastructure, and wider network relationships that extend beyond the ED. [source] Racing against the clock: Recognizing, differentiating, diagnosing, and referring the amyotrophic lateral sclerosis patient,ANNALS OF NEUROLOGY, Issue S1 2009Steven J. Shook MD Recognition of the early symptoms and signs in amyotrophic lateral sclerosis, exclusion of alternative diagnoses, and referral to a tertiary center can have a significant positive impact on the lives of patients and their caregivers. This article provides the most current amyotrophic lateral sclerosis criteria, as well as helpful clinical clues to the diagnosis. An approach to laboratory testing, electrodiagnostic testing, and imaging to exclude diseases that mimic ALS also are discussed, as are atypical presentations that can confound timely diagnosis. Ann Neurol 2009;65 (suppl):S10,S16 [source] Macrophage activation syndrome in juvenile systemic lupus erythematosus: A multinational multicenter study of thirty-eight patientsARTHRITIS & RHEUMATISM, Issue 11 2009Alessandro Parodi Objective To describe the clinical and laboratory features of macrophage activation syndrome as a complication of juvenile systemic lupus erythematosus (SLE). Methods Cases of juvenile SLE,associated macrophage activation syndrome were provided by investigators belonging to 3 pediatric rheumatology networks or were found in the literature. Patients who had evidence of macrophage hemophagocytosis on bone marrow aspiration were considered to have definite macrophage activation syndrome, and those who did not have such evidence were considered to have probable macrophage activation syndrome. Clinical and laboratory findings in patients with macrophage activation syndrome were contrasted with those of 2 control groups composed of patients with active juvenile SLE without macrophage activation syndrome. The ability of each feature to discriminate macrophage activation syndrome from active disease was evaluated by calculating sensitivity, specificity, and area under the receiver operating characteristic curve. Results The study included 38 patients (20 with definite macrophage activation syndrome and 18 with probable macrophage activation syndrome). Patients with definite and probable macrophage activation syndrome were comparable with regard to all clinical and laboratory features of the syndrome, except for a greater frequency of lymphadenopathy, leukopenia, and thrombocytopenia in patients with definite macrophage activation syndrome. Overall, clinical features had better specificity than sensitivity, except for fever, which was highly sensitive but had low specificity. Among laboratory features, the best sensitivity and specificity was achieved using hyperferritinemia, followed by increased levels of lactate dehydrogenase, hypertriglyceridemia, and hypofibrinogenemia. Based on the results of statistical analysis, preliminary diagnostic guidelines for macrophage activation syndrome in juvenile SLE were developed. Conclusion Our findings indicate that the occurrence of unexplained fever and cytopenia, when associated with hyperferritinemia, in a patient with juvenile SLE should raise the suspicion of macrophage activation syndrome. We propose preliminary guidelines for this syndrome in juvenile SLE to facilitate timely diagnosis and correct classification of patients. [source] The most common challenges in melanoma diagnosis and how to avoid themAUSTRALASIAN JOURNAL OF DERMATOLOGY, Issue 1 2009Ashfaq A Marghoob SUMMARY Due to its particularly lethal nature and tendency to affect relatively young individuals, the timely diagnosis of melanoma remains of paramount importance for clinicians and their patients. Unfortunately, melanomas can mimic benign lesions that are overwhelmingly more common in the population than are melanomas, and misdiagnosis or delay in diagnosis of melanoma can occur. Misdiagnosis of melanoma serves as one of the most common causes for malpractice litigation brought against medical practitioners. In this review we describe seven clinical scenarios that represent challenges in melanoma diagnosis and discuss potential strategies for avoiding the errors that commonly give rise to those scenarios. [source] Chronic disease profiles in remote Aboriginal settings and implications for health services planningAUSTRALIAN AND NEW ZEALAND JOURNAL OF PUBLIC HEALTH, Issue 1 2010Wendy E. Hoy Abstract Objective: To report the short-term experiences and outcomes of a program to support chronic disease management in three remote communities in Top End Northern Territory and in two Aboriginal Medical Services (AMSs) in Western Australia, and to discuss the implications of findings for health service delivery and policy. Methods: Programs were health-worker centred. They espoused regular screening of all adults for chronic disease, initiation and modification of treatment where indicated and rigorous documentation. Process measures were documented and rates of hypertension, renal disease and diabetes among adults were calculated. Results: Rates of hypertension, proteinuria and diabetes rose throughout adult life and multiple diagnoses were common. Most people with these conditions were young or middle age adults. Rates were uniformly excessive relative to AusDiab data, but varied greatly among settings. Adherence to protocols improved, many new diagnoses were made, treatments were started or modified and blood pressures in treated hypertensive people fell. In the NT, productivity was seriously limited by lack of health workers and their absenteeism. In the WA AMSs, executive and staff support carried the programs forward to a sustainable future, despite various challenges. Conclusions: Integrated chronic disease testing must be repeated throughout adult life for timely diagnosis. Health workers can perform all tasks well, with appropriate supports. Blood pressure outcomes alone predict lower cardiovascular and renal mortality. The findings support incorporation of chronic disease into lifetime health care plans. [source] Proton pump inhibitor-induced acute interstitial nephritisBRITISH JOURNAL OF CLINICAL PHARMACOLOGY, Issue 6 2007Linda Härmark What is already known about this subject ,,In several case reports the use of omeprazole has been associated with interstitial nephritis. ,,Recently there have been reports linking other proton pump inhibitors (PPIs) with interstitial nephritis. What this study adds ,,We present supplementary cases received by the Netherlands Pharmacovigilance Centre Lareb, concerning interstitial nephritis in users of PPIs including omeprazole, pantoprazole and rabeprazole. ,,In this case series seven patients are presented. In six cases they recovered spontaneously after cessation of the PPI, in one case the patient recovered after treatment with a corticosteroid. ,,Further support for this association comes from the worldwide adverse drug reaction database of the World Health Organization. ,,This report shows that interstitial nephritis can occur with all PPIs. Health professionals should be aware of this potential serious adverse drug reaction. Aim To investigate the association between the use of proton pump inhibitors (PPIs) and acute interstitial nephritis (AIN). Methods The Netherlands Pharmacovigilance Centre Lareb received seven case reports of AIN induced by various PPIs. In five of the reports it was mentioned that the diagnosis was confirmed by a renal biopsy. Results The time to onset varied between hours to 4 months. In all cases but one the patient spontaneously recovered after withdrawal of the offending agent. In one case the patient received treatment with prednisolone and recovered. In one patient a rechallenge was done 9 days after the initial event. Within 12 h of re-exposure the patient developed symptoms of AIN. Conclusions The mechanism of drug-induced AIN is unknown, but an immunological mechanism is suspected. Our reports show no relation between dosage, latency, time to recovery, age or gender, supporting the hypothesis that the aetiology of AIN is immunological. Lareb has received reports of AIN with the use of omeprazole, pantoprazole and rabeprazole. This shows that AIN is a complication associated with the whole group of PPIs and not only omeprazole. It is important for health professionals to be aware of this adverse drug reaction, because an accurate and timely diagnosis and withdrawal of the offending drug can prevent potentially life-threatening renal failure. [source] | ||||||||||