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PubMed2006

Anaphylaxis, killer allergy: long-term management in the community.

Traditionally, physicians are trained to diagnose and treat anaphylaxis as an acute emergency in a health care setting. In addition to this crucial and time-honored role, we should be cognizant of our wider responsibility to (1) provide a risk assessment for individuals with anaphylaxis, (2) prevent future anaphylaxis episodes by developing long-term personalized risk reduction strategies for affected individuals, and (3) emphasize anaphylaxis education. Risk assessment should include verification of the trigger factor or factors for the anaphylaxis episode by obtaining a comprehensive history and performing relevant investigations, including allergen skin tests and measurement of allergen-specific IgE in serum. In addition, the potential effect of comorbidities and concurrently administered medications on the recognition and emergency treatment of subsequent episodes should be determined. Risk reduction strategies should be personalized to include information about avoidance of specific triggers and initiation of relevant specific preventive treatment (eg, venom immunotherapy). At-risk individuals should be coached in the use of self-injectable epinephrine and equipped with an anaphylaxis emergency action plan and with accurate medical identification. Anaphylaxis education should be provided for these individuals, their families and caregivers, health care professionals, and the general public. Further development of an optimal diagnostic test for anaphylaxis and of tests and algorithms to predict future risk and prevent fatality are urgently needed.

Anaphylaxis↗

PubMed2026

The role of the external genitalia score (EGS) in evaluation of disorders of sex development.

OBJECTIVE: To investigate the utility of the External Genitalia Score (EGS) in the diagnosis of disorders of sex development (DSD) and decision-making regarding gender assignment in affected patients. METHODS: A retrospective cohort study was conducted, enrolling 114 DSD patients aged <2 years (88 reared as males, 26 reared as females) treated at our hospital between April 2005 and June 2023, alongside 40 hypospadias patients aged <2 years who underwent surgery at our institution from January to July 2023. Demographic data (age) and EGS assessments of external genitalia were collected for all participants. Statistical analyses included independent samples t-tests, Mann-Whitney U tests and Receiver Operating Characteristic (ROC) curve analysis. Specifically, EGS scores were compared between the hypospadias group and the male-reared subgroup of the DSD cohort; additionally, EGS scores were contrasted between male-reared and female-reared DSD subgroups. RESULTS: The mean age was 20.3 months in the hypospadias group, 17.9 months in the male-reared DSD group, and 18.8 months in the female-reared DSD group. EGS ranged from 5.5 to 11.5 (median 10.5) in the hypospadias group and from 1 to 12 (median 4.75) in the DSD group. ROC curve analysis was performed to compare EGS scores between the hypospadias group and the male-reared DSD subgroup. The optimal diagnostic threshold was determined by maximizing the Youden index (sensitivity + specificity - 1), which balances sensitivity and specificity. A cut-off value of ≤8.50 was identified as indicative of DSD; clinically, patients with an EGS score <9 should be prioritized for DSD screening. Further comparison between male-reared and female-reared DSD subgroups yielded a threshold of 4.00. Clinically, an EGS score ≤4 may suggest a preference for female gender assignment. DISCUSSION: The EGS scale is a reliable, valid, and clinically feasible tool for characterizing external genitalia in DSD patients. An EGS score of 9 can serve as an indicator for initiating detailed sex development evaluation in hypospadias patients. While gender assignment in DSD is a complex, multifactorial process, EGS scores showed a significant association with the sex of rearing in our cohort. In settings where major determinants are balanced, EGS may serve as an adjunctive descriptive parameter rather than a standalone decision-making tool.

Humans↗

PubMedDate not supplied

Epidemiology of diastolic heart failure.

Heart failure (HF) is a major public health problem. Clinical studies suggest that a significant proportion of patients with HF have preserved ejection fraction, a clinical syndrome commonly referred to as diastolic HF (DHF). One of the purposes of epidemiological studies is to identify unmet public health needs in a population and to quantify the magnitude of the problem in a manner that is free from the referral bias inherent in clinical studies. We review current epidemiological data estimating the prevalence of DHF, highlight the challenges posed by existing data, and suggest focus for future studies on the epidemiology of DHF. We limited the review to studies that met our definition of population-based studies (eg, studies drawing participants from a defined community or all consecutive referrals to a health facility that is the sole provider to a defined community). Studies relevant to the epidemiology of each stage of DHF (American College of Cardiology/American Heart Association stages A-D) were reviewed. These epidemiological studies clearly define the magnitude of this health care problem and underscore the urgent need for studies elucidating the natural history, pathophysiology, and optimal diagnostic and management strategy for this extremely common clinical syndrome.

Age Distribution↗

PubMed2005

Thromboembolic complications in the nephrotic syndrome: pathophysiology and clinical management.

Patients with the nephrotic syndrome are at increased risk of developing venous and arterial thromboembolism, the most common of which is renal vein thrombosis. There are several unanswered or controversial issues relating to the nephrotic syndrome and thromboembolism, which include the mechanism of thromboembolism, and optimal diagnostic and anticoagulant management strategies. This review will discuss several of these issues: the epidemiology and clinical spectrum of thromboembolic disease occurring in patients with the nephrotic syndrome; the pathophysiology of the hypercoagulable state associated with the nephrotic syndrome; the diagnosis of renal vein thrombosis in the nephrotic syndrome; and the evidence for prophylactic and therapeutic anticoagulation strategies in such patients.

Anticoagulants↗

PubMed2005

Low-grade Ta (noninvasive) urothelial carcinoma of the bladder.

This article discusses the development of international guidelines for the diagnosis, treatment, follow-up, and prevention of low-grade Ta urothelial carcinoma of the bladder. The authors, who are experts in this field from 3 continents and 7 countries, reviewed the English language literature through September 2004. The results of the authors' deliberations are presented here as a consensus document. The objective of this study was to determine the optimal diagnostic workup, treatment, follow-up, and prevention of low-grade, Ta urothelial carcinoma of the bladder. A consensus conference convened by the World Health Organization (WHO) and the Société Internationale d'Urologie (SIU) met to critically review the literature on the diagnosis and treatment of low-grade Ta urothelial carcinoma of the bladder. Research was conducted using Medline; this search engine also was used to identify additional works not detected at the initial search. Evidence-based recommendations for diagnosis and management of the disease were made with reference to a 4-point scale. Low-grade Ta urothelial carcinoma of the bladder is a well-studied subject with many level 1 and 2 evidence references that support clinical practice. Findings from 135 reviewed citations are summarized. Many grade A and B recommendations on the diagnostic workup and management of this disease can be given with level 1 and 2 evidence based on prospective randomized clinical trials of sufficient statistical power. This should improve the quality of the treatment of this disease.

Algorithms↗

PubMed1999

Early diagnosis of acute myocardial infarction in patients without ST-segment elevation.

Early identification of acute myocardial infarction (AMI) is necessary to initiate appropriate treatment. In patients presenting without ST-segment elevation, diagnosis is often dependent on the presence of elevated myocardial markers. This study examines the ability of serial MB mass alone and in combination with myoglobin in diagnosing AMI in patients without ST-segment elevation within 3 hours of presentation. In all, 2,093 patients were admitted and underwent serial marker analysis using myoglobin, creatine kinase (CK), and CK-MB at 0, 3, 6, and 8 hours. AMI was diagnosed by a CK-MB > or =8.0 ng/ml and a relative index (RI) (CK-MB x 100/total CK) > or =4.0. A total of 186 patients (9%) were diagnosed with AMI. The optimal diagnostic strategy was an elevated CK-MB + RI on the initial or 3-hour sample or at least a twofold increase in CK-MB without exceeding the upper range of normal over the 3-hour time period (sensitivity 93%, specificity 98%). The combination of an elevated CK-MB + RI or myoglobin on the initial or 3-hour sample had a sensitivity of 94%, although specificity was significantly lower, at 86%. Sensitivities and specificities after exclusion of the 242 patients with ischemic electrocardiographic changes were essentially unchanged. We conclude that most patients with AMI presenting with nondiagnostic electrocardiograms can be diagnosed within 3 hours of presentation.

Biomarkers↗

PubMed1999

Blunt cerebrovascular injuries.

On the basis of our experience and the available literature, we submit that aggressive screening for BCI based on injury patterns is warranted. However, several important clinical issues remain unresolved. The precise injury patterns and relative cerebrovascular risks remain to be defined. Furthermore, the optimal diagnostic screening test remains to be identified, with consideration of the relative risk-benefit profile. Finally, we must determine the best methods for the treatment of BCI. Although the definitive study has yet to be completed, the use of heparin was associated with a trend toward improved outcomes in symptomatic patients. In addition, no asymptomatic patient experienced the development of new neurologic deficits during heparin therapy. Therefore we believe that the early institution of heparin therapy is indicated. The role of endovascular stenting, however, remains unclear.

Brain Injuries↗

PubMed1994

Pigmented conjunctival and scleral lesions.

OBJECTIVE: The multiple causes of pigmentations of the conjunctiva and sclera are reviewed, and the recommended therapeutic modalities are discussed. DESIGN: Information from personal experience and the recent literature is summarized to determine the optimal diagnostic and treatment approaches for suspicious pigmented conjunctival and scleral lesions. MATERIAL AND METHODS: Clinical descriptions and illustrations are presented to characterize these ocular lesions. RESULTS: Pigmented lesions of the conjunctiva and sclera arise from either melanocytes or nonmelanocytes and have a diverse differential diagnosis. These lesions can be classified into congenital melanosis, conjunctival nevi, acquired melanosis (secondary or primary), and conjunctival melanomas. In secondary acquired melanosis, the increased conjunctival pigmentation is caused by irradiation, hormonal changes, chemical irritation, or chronic inflammatory conjunctival disorders. The biologic behavior of primary acquired melanosis of the conjunctiva is a controversial topic with important implications because it may progress to melanoma. In patients with primary acquired melanosis, a biopsy is recommended in order to grade the disease, offer a prognosis, and direct further treatment. Conjunctival melanomas may arise from primary acquired melanosis, from nevi, or de novo, or they may be metastatic lesions. CONCLUSION: Of the wide spectrum of melanocytic conjunctival lesions, those with malignant potential are melanosis oculi, nevus of Ota, junctional nevus, compound nevus, primary acquired melanosis, and melanomas.

Conjunctival Diseases↗

PubMed2000

Management of idiopathic thrombocytopenic purpura in pregnancy.

Idiopathic thrombocytopenic purpura (ITP) is a relatively common autoimmune disorder among women of child-bearing age. It has a frequency of approximately one to two per 1,000 live births, accounting for about 3% of all cases of maternal thrombocytopenia at delivery. ITP in pregnancy necessitates the management of two patients, the mother and her baby; hence, the close collaboration of a multidisciplinary group composed of a hematologist, obstetrician, and pediatrician is essential. Our understanding of thrombocytopenia in pregnancy has evolved considerably over the last decade, yet the optimal diagnostic and treatment strategies for ITP in pregnancy continues to create controversy. In reviewing the recent literature, there is resurgence in the trend towards treating these patients in a more conservative fashion. This review will summarize the current approach to the diagnosis of ITP in pregnancy, as well as explore the pertinent and controversial issues of investigation and management.

Diagnosis, Differential↗

PubMed1996

Comparison of analysis of the different prostate-specific antigen forms in serum for detection of clinically localized prostate cancer.

OBJECTIVES: To compare different forms and ratios of serum prostate-specific antigen (PSA) to determine which form or ratio provides optimal diagnostic specificity and sensitivity in distinguishing between benign prostatic hyperplasia (BPH) and clinically localized prostate cancer. METHODS: Serum samples were obtained from 47 patients with BPH and 39 with clinically localized prostate cancer. Patients with BPH underwent either transurethral resection of the prostate or transurethral microwave thermotherapy. Patients with prostate cancer, all of whom had no metastases on radionucleotide bone scans and no pelvic lymph node involvement, underwent either radical external beam radiation therapy or radical retropubic prostatectomy. All patients had pretreatment serum PSA levels between 1 and 20 ng/mL. The different forms of serum PSA (free PSA [PSA-F], PSA complexed to alpha 1-antichymotrypsin [PSA-ACT], and total PSA [PSA-T]) were measured using different monoclonal antibodies against PSA and ACT and immunofluorometric assay techniques. Furthermore, three ratios (PSA-F/PSA-T, PSA-ACT/PSA-T, and PSA-F/PSA-ACT) were calculated. RESULTS: By receiver operating characteristic curve analysis, the performance of the different forms and ratios were compared. The PSA-F/PSA-T ratio had the greatest area under the curve (AUC, 0.776), significantly larger than that for PSA-T (0.612; P = 0.024). For PSA-ACT/PSA-T, the AUC was 0.695 (P = 0.283 versus PSA-T) and 0.773 for PSA-F/PSA-ACT (P = 0.051 versus PSA-T). At a cutoff level < 0.17, PSA-F/PSA-T had a sensitivity of 79%, a specificity of 66%, and a positive predictive value of 66% compared with 74%, 38%, and 50%, respectively, for PSA-T at a cutoff level > 4.0 ng/mL. CONCLUSIONS: The PSA-F/PSA-T ratio gives the best diagnostic performance compared with that for other forms and ratios of PSA and will reduce the number of prostatic biopsies in patients with BPH.

Adult↗

PubMed2001

Comparison of consultation rates in primary care attenders with and without seasonal affective disorder.

BACKGROUND: There is a lack of published information about the consultation patterns of patients with seasonal affective disorder (SAD) in primary care, when compared with non-seasonal controls (NSCs). METHODS: Interview-confirmed SAD cases (n=90) were age- and sex-matched to two controls without significant seasonal morbidity on the Seasonal Pattern Assessment Questionnaire (SPAQ) (non-seasonal controls, NSCs). A comparison of their consultation rates was made using data abstracted from primary care records over 4 years. RESULTS: The monthly rate of general practice consultations for SAD cases was significantly higher than that for NSCs. There was a significant difference in the median number of consultations in winter and autumn between the two groups. The matched multivariate analysis revealed that February and April were the independent months in which cases of SAD had significantly more consultations than NSCs. LIMITATIONS: Optimal diagnostic criteria for SAD have not been determined and our criteria may have been over-inclusive. CONCLUSION: In addition to a marked difference in monthly consultation rates between SAD cases and NSCs, the data demonstrate a difference in the pattern of seasonality of these rates. It is possible that increased frequency of consultation, in particular during the winter months (in patients who score as a case SPAQ), could be used as an indication of SAD in primary care.

Adolescent↗

PubMed1993

Sonographic assessment of fetal cardiac arrhythmias.

The fetus with an arrhythmia may be at high risk both from the arrhythmia itself and from the condition that provoked it. Incorrect diagnosis and inappropriate or delayed treatment may further compound the hazard. Although echocardiography can specifically identify the arrhythmia, this technique requires very skilled and careful examination by a physician who fully understands how to differentiate optimally between similar-appearing but mechanistically different arrhythmias. Congenital heart disease may also be present and must be evaluated specifically. This report describes ultrasound recording techniques used to diagnose arrhythmias and includes a discussion of M-mode echocardiography, two-dimensional imaging, pulsed Doppler, and color-flow Doppler. It also differentiates specific arrhythmias--premature atrial contractions, ventricular tachycardia, atrial flutter, complete heart block, and supraventricular tachycardia--and presents the optimal diagnostic tools for each.

Arrhythmias, Cardiac↗

PubMed2001

Serum melanotransferrin, p97 as a biochemical marker of Alzheimer's disease.

The protein melanotransferrin (p97) is associated with the brain lesions of Alzheimer's disease (AD) and is a potential marker of the disorder. We measured serum p97 concentrations in 211 subjects: 71 patients with AD, 56 patients with non-AD-type dementia, and 84 normal control subjects. Serum p97 concentrations were elevated 3- to 4-fold in AD (median 15.00 pg/microl, interquartile range 10.20-17.00 pg/microl) as compared to non AD dementia (2.85 pg/microl, 1.93-7.15 pg/microl) and normal controls (3.20 pg/microl, 2.55-3.95 pg/microl). The mean elevation was significant at 13.54 +/- 3.72 pg/microl, even in the 38 subjects with mild AD (CDR stage 0.5-1). Receiver operating characteristic analyses confirmed an optimal diagnostic threshold of 10.0 pg/microl, which yielded over-all accuracy of 0.882 to 0.915. Serum p97 is a candidate marker of AD, even in the early stage when clinical diagnosis is most uncertain.

Adult↗

PubMed1996

Classification of pulmonary lesions into central and peripheral with a template applied on chest X-ray.

To facilitate the understanding of the anatomical localization of pulmonary lesions and to optimize diagnostic evaluation, a template was designed which, on conventional chest X-rays, could be employed to discriminate between central and peripheral pulmonary lesions. The term 'central' implies that the lesion should be visible in the tracheobronchial tree through a fibre-optic bronchoscope, and the term 'peripheral' suggests that the lesion is not visible through a bronchoscope. In 20 patients examined by fibre-optic bronchoscopy, the bronchoscope was wedged into four pre-selected segmental bronchi in each lung. Using fluoroscopy, the tip of the bronchoscope was marked out on the skin with leadshot. On subsequent chest X-rays, with posterior-anterior and right lateral views, the distances and angles of the markings of the bronchi were mapped out in relation to the main carina. These data were used to design the template.

Adult↗

PubMed2002

Current strategies for the diagnosis of pulmonary embolus.

Venous thromboembolic disease (VTD), comprising venous thrombosis and pulmonary embolus, is responsible for innumerable deaths every day. Wide variance in its presentation and clinical manifestations and the resultant difficulties in achieving its diagnosis have confounded attempts to define optimal diagnostic and treatment strategies. Those strategies should be predicated on the understanding of the manifestations of VTD and of the attributes and interrelationship of the various modalities available for its diagnosis. This review will present an overview of the literature describing those modalities, their strengths and deficiencies, and their current value in algorithms for the diagnosis of VTD.

Algorithms↗

PubMed2003

Staging and prognostic factor evaluation in soft tissue sarcoma.

Over the past decade, there has been significant emphasis on the elucidation of clinicopathologic prognostic factors in STS. This has allowed for identification of the "high-risk" patient at presentation. Molecular factors may further refine the identification of high-risk patients. Setting-related prognostic factors are often amenable to change, and all STS patients should probably be referred for specialty consultation before treatment so that they can benefit from optimal diagnostic, therapeutic, and multidisciplinary approaches. The ongoing pursuit of prognostic issues should also recognize the dynamic nature of prognosis course in a patient's disease.

Clinical Trials as Topic↗

PubMedDate not supplied

Needle biopsy for suspicious lesions of the head of the pancreas: pitfalls and implications for therapy.

Controversy continues to exist concerning the optimal diagnostic approach to a pancreatic head lesion suspected of being a neoplasm. The objective of this study was to evaluate the impact of needle biopsy in suspicious pancreatic head neoplasia and its effect on therapy and outcome. Seventy-three patients with symptoms or signs of periampullary neoplasia and a pancreatic head lesion identified on CT scan were reviewed retrospectively. Forty patients with potentially resectable lesions underwent intraoperative transduodenal core needle biopsy of the head of the pancreas. Thirty-three patients underwent CT-guided percutaneous fine-needle aspiration. The sensitivity and specificity of core needle biopsy were 76% and 100%, respectively. One death was directly related to the procedure and therapy was adversely affected in one patient with a false negative result. The sensitivity and specificity of percutaneous fine-needle aspiration were 85% and 92%, respectively, and were not significantly different from the core needle biopsy results (P >0.3). Three false negative fine-needle aspiration biopsies occurred in patients with potentially resectable lesions and a low clinical suspicion for malignancy. In patients with a mass in the head of the pancreas on CT scan, fine-needle aspiration biopsy offers results similar to those of intraoperative transduodenal core needle biopsy. In patients estimated to have resectable disease, a pancreaticoduodenectomy should be performed without a biopsy. For patients with unresectable disease, cytologic examination of fine-needle aspirate should be performed. If this examination is positive, it offers the advantage of facilitating the construction of a rational plan for palliation.

Biopsy, Fine-Needle↗

PubMed2002

Diagnosing diastolic heart failure.

BACKGROUND: increasing evidence supports the existence of left ventricular diastolic dysfunction as an important cause of congestive heart failure, present in up to 40% of heart failure patients. AIM: to review the pathophysiology of LV diastolic dysfunction and diastolic heart failure and the currently available methods to diagnose these disorders. RESULTS: for diagnosing LV diastolic dysfunction, invasive hemodynamic measurements are the gold standard. Additional exercise testing with assessment of LV volumes and pressures may be of help in detecting exercise-induced elevation of filling pressures because of diastolic dysfunction. However, echocardiography is obtained more easily, and will remain the most often used method for diagnosing diastolic heart failure in the coming years. MRI may provide noninvasive determination of LV three-dimensional motion during diastole, but data on correlation of MRI data with clinical findings are scant, and possibilities for widespread application are limited at this moment. CONCLUSIONS: in the forthcoming years, optimal diagnostic and therapeutic strategies for patients with primary diastolic heart failure have to be developed. Therefore, future heart failure trials should incorporate patients with diastolic heart failure, describing precise details of LV systolic and diastolic function in their study populations.

Diastole↗