Explanatory Diagnosis Research Articles

Brief Resolved Unexplained Event: Evidence-Based and Family-Centered Management.

Brief resolved unexplained events (BRUEs) are frequently encountered in infants younger than 1 year. By definition, these events require the infant to be asymptomatic and at baseline at the time of presentation, with no significant abnormalities on examination and no discernible explanatory diagnosis. Research has shown that less than 5% of BRUE cases are attributable to serious underlying conditions, with no increased mortality risk and no increased risk of sudden infant death syndrome. Despite these findings, approximately 63% of patients with BRUEs are hospitalized and up to 82% undergo diagnostic tests, which predominantly result in false-positive findings. Such results may lead to unnecessarily prolonged hospital stays, additional tests or consultations, and increased parental anxiety. The management of a patient who has experienced a BRUE can be challenging for providers and parents alike. Although risk is known to be low in these infants, providers may be compelled to explain the event and provide reassurance. Caregivers oftentimes are concerned that the events may reoccur and be a harbinger of a missed diagnosis. Shared decision-making can be used to explain risk and the benefit of additional testing and hospitalization. This family-centered strategy can align care with the family's values, provide reassurance, and decrease decisional conflict.

Identifying serious underlying diagnoses among patients with brief resolved unexplained events (BRUEs): a Canadian cohort study

ObjectiveTo describe the demographics and clinical outcomes of infants with brief resolved unexplained events (BRUE).DesignA retrospective cohort study.Setting11 centres within the Canadian Paediatric Inpatient Research Network.PatientsPatients presenting to the emergency...

Applicability of the Sustained Attention to Response Task (SART) in hypersomnolence: Experience and results from a tertiary referral center

Objective/backgroundEvaluation of hypersomnolence disorders ideally includes an assessment of vigilance using the short Sustained Attention to Response Task (SART). We evaluated whether this task can differentiate between hypersomnolence disorders, whether it correlates with subjective and objective sleepiness, whether it is affected by the time of day, and symptoms of anxiety and depression. Patients/methodsWe analyzed diagnostic data of 306 individuals with hypersomnolence complaints diagnosed with narcolepsy type 1 (n=100), narcolepsy type 2 (n=20), idiopathic hypersomnia (n=49), obstructive sleep apnea (n=27) and other causes or without explanatory diagnosis (n=110). We included the Multiple Sleep Latency Test (MSLT), polysomnography, Epworth Sleepiness Scale (ESS), Hospital Anxiety and Depression Scale and SART, which were administered five times during the day (outcomes: reaction time, total, commission and omission errors). ResultsThe SART outcomes did not differ between groups when adjusted for relevant covariates. Higher ESS scores were associated with longer reaction times and more commission errors (p<.01). The main outcome, total errors, did not differ between times of the day. Reaction times and omission errors were impacted (p<.05). ConclusionsThe SART quantifies disturbed vigilance, an important dimension of disorders of hypersomnolence. Results do not suggest that depressive symptoms influence SART outcomes. A practice session is advised. Testing time should be taken into account when interpreting results. We conclude that the SART does not differentiate between central disorders of hypersomnolence. It may be a helpful addition to the standard diagnostic workup and monitoring of these disorders.

Review article: A variable level of prostate specific antigen and its relative tests and their probable explanatory diagnosis

prostate specific antigen is a glycoprotein that liquefy the semen normally. It suppose to be in a very low level abnormally and increase in cases of infection of the prostrate, hyperplasia and tumor. Due to increase and decrease in many other cases not only a tumor and due to high percent of existence in many normal fluids and many other tumor, it somewhat reduce its specifity and sensitivity and so it supported by other test. Aim: it to predict whether that tumor marker is sufficient to the diagnosis of the prostate tumor. Nowadays it had been seen that this tumor marker is secreted from many other fluid beside the prostate gland and found in many other tumor beside the prostate tumor and so it is better to be supported by many other assessments and clinical and histological steps for making a definite decision.

Explanatory Diagnoses Following Hospitalization for a Brief Resolved Unexplained Event

Most young infants presenting to the emergency department (ED) with a brief resolved unexplained event (BRUE) are hospitalized. We sought to determine the rate of explanatory diagnosis after hospitalization for a BRUE. This was a multicenter retrospective cohort study of infants hospitalized with a BRUE after an ED visit between October 1, 2015, and September 30, 2018. We included infants without an explanatory diagnosis at admission. We determined the proportion of patients with an explanatory diagnosis at the time of hospital discharge and whether diagnostic testing, consultation, or observed events occurring during hospitalization were associated with identification of an explanatory diagnosis. Among 980 infants hospitalized after an ED visit for a BRUE without an explanatory diagnosis at admission, 363 (37.0%) had an explanatory diagnosis identified during hospitalization. In 805 (82.1%) infants, diagnostic testing, specialty consultations, and observed events did not contribute to an explanatory diagnosis, and, in 175 (17.9%) infants, they contributed to the explanatory diagnosis (7.0%, 10.0%, and 7.0%, respectively). A total of 15 infants had a serious diagnosis (4.1% of explanatory diagnoses; 1.5% of all infants hospitalized with a BRUE), the most common being seizure and infantile spasms, occurring in 4 patients. Most infants hospitalized with a BRUE did not receive an explanation during the hospitalization, and a majority of diagnoses were benign or self-limited conditions. More research is needed to identify which infants with a BRUE are most likely to benefit from hospitalization for determining the etiology of the event.

Diagnostic laparoscopy to exclude malrotation following inconclusive upper gastrointestinal contrast study in infants.

We report the use of diagnostic laparoscopy as an alternative to laparotomy in the investigation of infants with clinical features concerning for malrotation and inconclusive upper gastrointestinal contrast study. Case note review of all infants in whom laparoscopy was performed during 2016-2020 to investigate for possible malrotation. Eight infants were identified. All presented with acute clinical features of malrotation (bilious vomit) without evidence of an alternate explanatory diagnosis. All underwent upper gastrointestinal contrast study, with three also undergoing abdominal ultrasound. The radiological examinations could not exclude malrotation and all proceeded to laparoscopy. At laparoscopy, the small intestine was run to exclude the presence of midgut volvulus. In six cases, normal rotation was confirmed and no abnormal pathology was found. Two proceeded to laparotomy and underwent correction of malrotation. All infants recovered without complication. Laparoscopy is an excellent modality for further investigation of infants presenting acutely in whom intestinal malrotation cannot be formally excluded radiologically. The positive identification of the DJ flexure and cecum in correct anatomical sites, both fixed to the posterior abdominal wall, provides adequate reassurance of low risk of volvulus and avoids a full laparotomy. We recommend diagnostic laparoscopy in cases of inconclusive upper gastrointestinal contrast study.

Pulmonary hypertension: when the acute event leads to diagnosis. Case report in a patient with Ehlers-Danlos syndrome.

Chronic Thromboembolic Pulmonary Hypertension (CTEPH) is a pulmonary vascular pathology caused by the chronic obstruction of the major pulmonary arteries, usually being the consequence of recurrent episodes of pulmonary embolism. Such events are usually unknown; the delay in such a diagnosis can therefore lead to a deterioration of the clinical picture, worsening the overall prognosis. This is a case of a 55-year-old man who came to the Emergency Room (ER) because of an acute exacerbation of chronic dyspnea, that he experienced for several years, in the absence of an explanatory diagnosis. Acute pulmonary embolism was diagnosed in the setting of the ER, with bedside echography resulting to be crucial to the work up. A multidisciplinary approach allowed proper treatment, management and a favourable outcome.

Congenital platelet disorders and health status–related quality of life

BackgroundPatients with congenital blood platelet disorders (CPDs) demonstrate a predominantly mucocutaneous bleeding tendency. Repeated bleeds throughout life can have a significant impact on health status–related quality of life (HR‐QoL), but few studies have investigated HR‐QoL in patients with CPDs. ObjectivesTo determine HR‐QoL in patients with suspected or confirmed CPDs as compared with the general Dutch population and to assess the association between bleeding phenotype and HR‐QoL. MethodsData were derived from the Thrombocytopathy in the Netherlands (TiN) study, a cross‐sectional study of individuals suspected for a congenital platelet defect. TiN patients with an increased ISTH Bleeding Assessment Tool (ISTH‐BAT) score (>3 in men and > 5 in women) were included for analysis. HR‐QoL was assessed with the Short Form (SF)‐36 survey. Bleeding symptoms were evaluated with the ISTH‐BAT, resulting in a bleeding score. ResultsOne hundred fifty‐six patients were analyzed, of whom 126 (81%) were women. Sixty‐two patients (40%) had a confirmed CPD. Compared to the general Dutch population, patients with a suspected or confirmed CPD reported decreased physical functioning, limitations in daily activities due to physical health problems, limitations in social activities, decreased energy levels and fatigue, pain, and lower general health status. HR‐QoL was not correlated with the ISTH‐BAT score and was similar in patients with a confirmed CPD and those in whom a CPD could not be diagnosed. ConclusionA bleeding tendency in patients with a suspected or confirmed CPD significantly impacts HR‐QoL, independent of a confirmed explanatory diagnosis.

Diagnostic Yield of Customized Exercise Provocation Following Routine Testing

Clinical guidelines advocate for customization of exercise testing to address patient-specific diagnostic goals, including reproduction of presenting exertional symptoms. However, the diagnostic yield of adding customized exercise testing to graded exercise in patients presenting with exertional complaints has not been rigorously examined and is the focus of this study. Using prospectively collected data, we analyzed the diagnostic yield of customized additional exercise provocation following inconclusive graded exercise test with measurement of gas exchange. Additional testing was defined as "positive" if it revealed a clinically-actionable diagnosis related to the chief complaint or reproduced symptoms in the absence of an explanatory diagnosis or pathology. Of 1,110 patients who completed a graded test, 122 (11%) symptomatic patients underwent additional customized exercise testing (e.g., sprint intervals and race simulations). Compared with those who did not undergo additional testing, this group was younger (29 [interquartile range 19 to 45] vs 46 [25 to 58] year old) and disproportionately female (43% vs 27%). Presenting symptoms included palpitations (46%), lightheadedness/syncope (25%), chest pain (14%), dyspnea (11%), and exertional intolerance (3%). Additional testing was "positive" in 48 of 122 (39%) of patients by revealing a clinically actionable diagnosis in 26 of 48 (54%) or reproducing symptoms without an explanatory diagnosis in 22 of 48 (46%). In conclusion, while patient-centered customization of exercise testing is suggested by clinical guidelines, these data are the first to demonstrate that the selective addition of customized exercise provocation following inconclusive graded exercise testing improves the diagnostic yield of exercise assessment.

MP6-16 GENDER, RACE, AND VARIATION IN THE WORKUP OF HEMATURIA

You have accessJournal of UrologyGeneral & Epidemiological Trends & Socioeconomics: Practice Patterns, Cost Effectiveness I1 Apr 2014MP6-16 GENDER, RACE, AND VARIATION IN THE WORKUP OF HEMATURIA Jeffrey Bassett, JoAnn Alvarez, Chaochen You, Tatsuki Koyama, Shenghua Ni, David Penson, and Daniel Barocas Jeffrey BassettJeffrey Bassett More articles by this author , JoAnn AlvarezJoAnn Alvarez More articles by this author , Chaochen YouChaochen You More articles by this author , Tatsuki KoyamaTatsuki Koyama More articles by this author , Shenghua NiShenghua Ni More articles by this author , David PensonDavid Penson More articles by this author , and Daniel BarocasDaniel Barocas More articles by this author View All Author Informationhttps://doi.org/10.1016/j.juro.2014.02.250AboutPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissionsReprints ShareFacebookTwitterLinked InEmail INTRODUCTION AND OBJECTIVES Female gender and non-white race are predictive of a higher stage and worse survival in patients diagnosed with bladder cancer (BC). Hematuria is the most common sign of BC, yet fewer than half of patients with hematuria undergo the evaluation recommended by the American Urological Association. Our aim was to determine the association between gender, race, and receipt of a timely and complete evaluation of hematuria. METHODS We included Medicare A and B beneficiaries from the 5% sample who were diagnosed with incident hematuria by a primary care provider during an outpatient visit between January 2009 and June 2010. Patients with a pre-existing explanatory diagnosis or discontinuous coverage were excluded. Our primary endpoint was the completeness of hematuria evaluation in the 180 days after diagnosis, with the evaluation categorized as complete or either incomplete or absent based on the utilization of cystoscopy and abdomino-pelvic imaging. Generalized linear mixed models were used to examine the relationship between gender, race, and the completeness of hematuria evaluation adjusting for patient- and county-level covariates. RESULTS We identified 9,220 beneficiaries who met our study criteria. The evaluation was complete in 14% of patients, incomplete in 21% and absent in 65%.. In multivariable analyses, females were less likely than males to be seen by a urologist, to undergo a diagnostic procedure or imaging, or to have a complete workup (Figure 1). Race/ethnicity was not an independent predictor of hematuria evaluation. Completeness of the work-up was associated with the likelihood of a definitive urologic or renal diagnosis being rendered; an etiologic diagnosis was coded in 69% vs. 34% vs. 8% (p < 0.001), and a malignancy diagnosed in 28% vs. 2% vs. 0.3% of evaluations that were complete, incomplete, or absent, respectively (p < 0.001). CONCLUSIONS Our data demonstrate that female Medicare beneficiaries are less likely to undergo a hematuria evaluation and may therefore be less likely to receive a definitive urologic diagnosis, even when one is present. While race differences in BC outcomes cannot be attributed to differences in the quality of evaluation for hematuria, inadequate hematuria evaluation may contribute to the higher stage and worse outcomes for females diagnosed with BC. © 2014FiguresReferencesRelatedDetails Volume 191Issue 4SApril 2014Page: e62-e63 Advertisement Copyright & Permissions© 2014MetricsAuthor Information Jeffrey Bassett More articles by this author JoAnn Alvarez More articles by this author Chaochen You More articles by this author Tatsuki Koyama More articles by this author Shenghua Ni More articles by this author David Penson More articles by this author Daniel Barocas More articles by this author Expand All Advertisement Advertisement PDF downloadLoading ...

Variation in the Intensity of Hematuria Evaluation: A Target for Primary Care Quality Improvement

BackgroundHematuria is a common clinical finding and represents the most frequent presenting sign of bladder cancer. The American Urological Association recommends cystoscopy and abdomino-pelvic imaging for patients aged more than 35 years. Nonetheless, less than half of patients presenting with hematuria undergo proper evaluation. We sought to identify clinical and nonclinical factors associated with evaluation of persons with newly diagnosed hematuria. MethodsWe performed a retrospective cohort study, using claims data and laboratory values. The primary exposure was practice site, as a surrogate for nonclinical, potentially modifiable sources of variation. Primary outcomes were cystoscopy or abdomino-pelvic imaging within 180 days after hematuria diagnosis. We modeled the association between clinical and nonclinical factors and appropriate hematuria evaluation. ResultsWe identified 2455 primary care patients aged 40 years or more and diagnosed with hematuria between 2004 and 2012 in the absence of other explanatory diagnosis; 13.7% of patients underwent cystoscopy within 180 days. Multivariate logistic regression revealed significant variation between those who did and did not undergo evaluation in age, gender, and anticoagulant use (P < .001, P = .036, P = .028, respectively). Addition of practice site improved the predictive discrimination of each model (P < .001). Evaluation was associated with a higher rates of genitourinary neoplasia diagnosis. ConclusionsPatients with hematuria rarely underwent complete evaluation. Although established risk factors for malignancy were associated with increasing use of diagnostic testing, factors unassociated with risk, such as practice site, also accounted for significant variation. Inconsistency across practice sites is undesirable and may be amenable to quality improvement interventions.

A Standardized Diagnostic Interview for Hypoactive Sexual Desire Disorder in Women: Standard Operating Procedure (SOP Part 2)

Taking into account that Hypoactive Sexual Desire Disorder (HSDD) is a patient-reported symptom and that the disorder is in general the result of the interaction of biological and psychosocial factors (see part 1), it is necessary to provide healthcare professionals with an operating procedure that is patient centered and multidimensional. Describing a patient-centered and multidimensional standard procedure to diagnose and manage HSDD on a primary care level. Review of the literature. Semistructured interview and description of process. RESULT.: The interactive process with the patient follows several steps: initiation, narrative of the patient to understand the individual profile of the disorder, differentiating questions, descriptive diagnosis, exploration of conditioning biomedical, individual psychological, interpersonal, and sociocultural factors (including biomedical examinations), establishment of a biopsychosocial comprehensive explanatory diagnosis, which can be summarized in a nine-field matrix. This matrix will serve as orientation for therapeutic interventions adapted to the individual person. These interventions should always be based on basic counseling as a basis of treatment. Then adapted to the individual condition specific hormonal treatments (mainly estrogen and testosterone alone or combined) can be used after exclusion of contraindications. In patients with predominant psychosocial factors contributing to HSDD individual or couple psychotherapy is indicated. Psychopharmacological drugs are in development and partially investigated and will add to the therapeutic possibilities in the future. This model can serve as an ideal basis for the approach to the female patient with HSDD. It can be adapted to the individual clinical setting.

Bedside diagnosis of bilateral diaphragmatic paralysis

Dear Editor, Bilateral diaphragmatic paralysis (BDP) is a rare cause of respiratory failure that is quite challenging to diagnose [1]. Here we describe the cases of two children in whom BDP was easily detected at bedside once we used an esophagal probe equipped with sensors that measured the electrical activity of the diaphragm. A 3-year-old boy with complex congenital cardiopathy underwent a third surgery using the bidirectional Glenn anastomosis procedure. After extubation, he developed intense dyspnea. A commercially available feeding tube equipped with sensors (Edi 8-Fr catheter, Maquet Critical Care, Solna, Sweden) was installed to provide respiratory support using the neurally adjusted ventilatory assist mode (NAVA). This esophageal probe records electrical activity of the diaphragm via a Servo-I Ventilator (Maquet Critical Care, Solna, Sweden) using a standardized method [2]. The child regained spontaneous respiratory activity, but no electrical activity of the diaphragm could be found, thus evoking the diagnosis of BDP. This diagnosis was confirmed by a fluoroscopy. The child was completely liberated from noninvasive ventilation on the 18th postoperative day. A 9-month-old girl with an atrioventricular canal defect underwent a third surgery for mitral valve replacement. Over the next few days, she experienced two failed extubations. Echocardiographies showed good cardiac function. Laryngotracheal fibroscopy did not provide an explanatory diagnosis. A fluoroscopy of the diaphragm receiving pressure support ventilation was carried out by a radiologist who concluded that there were no components indicating diaphragmatic paralysis. A thoracic tomodensitometry showed systematized alveolar condensations reminiscent of non-specific ventilatory disorders. Two weeks after the valve replacement, a pacemaker was implanted because of a persistent complete atrioventricular block. Thereafter, the attending physician decided to try ventilatory support using the NAVA mode because of the good results we had obtained in other cases of challenging ventilation [3]. The respiratory rate and ventilator pressures were reduced in order to restore spontaneous respiratory activity. Nevertheless, the Edi catheter did not detect any electrical activity of the diaphragm. The diagnosis of BDP was then confirmed by an electromyography of the diaphragm with a phrenic nerve conduction study. After a left diaphragmatic plication, the child was free of all mechanical ventilation 3 weeks later. Bilateral diaphragmatic paralysis is a rare cause of respiratory distress that develops in various neuropathies and myopathies [1]. After cardiac surgery BDP is typically due to traction applied during the thoracic surgery [4]. Bilateral diaphragmatic paralysis is difficult to diagnose as there are no asymmetric movements, unlike unilateral diaphragmatic paralysis. Fluoroscopic imaging, although sensitive and specific for unilateral diaphragm paralysis, is frequently misinterpreted when diaphragmatic paralysis is bilateral. Currently, measurement of electrical activity of the diaphragm can be done at the bedside with a specific esophageal probe connected to a commercially available ventilator [5]. The position of this probe must be carefully checked using the positioning window and ECG signals. The absence of electrical activity of the diaphragm in a child with unexplained respiratory distress, where spontaneous breathing activity is present, strongly suggests the diagnosis of BDP.

420 A New Tool for Bilateral Diaphragmatic Paralysis Diagnosis

Background and AimsBilateral diaphragmatic paralysis (BPD) is a rare cause of unexplained respiratory failure. Although it is a known complication of cardiothoracic surgery, it is often under-recognized and diagnosis is...

Two Opinions About One Child—What's the Clinician To Do?

Two Opinions About One Child—What's the Clinician To Do?

Diagnostic Yield of Endoscopy for Weight Loss: Results of a Comparative Cohort Study vs. Non-Weight Loss Controls

Background: Gastroenterologists are commonly asked to perform pan-endoscopy in patients with weight loss. This request is based on historical series revealing a high prevalence of GI causes of involuntary weight loss (Lankisch J Int Med 2001). However, in the absence of specific GI symptoms or signs, such as bleeding, dysphagia, diarrhea, constipation, or anemia, the yield of endoscopy may be low and its appropriateness unclear. We studied patients referred for endoscopy because of weight loss, and evaluated the yield of endoscopy vs. non-weight loss controls. Methods: We performed a retrospective analysis of patients referred to the endoscopy unit of a University-based VA medical center from 2000-2010 with a primary indication of weight loss. We excluded patients who would otherwise qualify for endoscopy regardless of weight loss, such as those with positive fecal occult blood, iron deficiency, previous imaging study with a colonic abnormality, familial GI cancer syndrome, GI bleeding, or prior colon cancer. Although we allowed for diarrhea and constipation, we performed a sensitivity analysis in which this sub-group was also excluded. We gathered data on patient characteristics, duration and amount of weight loss, body mass index (BMI), and endoscopy findings. We calculated the proportion of cases in which an explanatory luminal diagnosis was identified by endoscopy, and compared this to the yield in 2 age and sex-matched control groups: 1) group undergoing screening colonoscopy; and 2) group undergoing diagnostic colonoscopy for a non-weight loss indication. We conducted separate analyses for colonoscopy and upper endoscopy (EGD). We employed chi-squared for pairwise comparisons. Results: There were 95 colons and 61 EGDs identified (mean age=65; 93% male; BMI=23). Patients lost a mean of 22 lbs over a 9 month average period. The Figure reveals the diagnostic yield of the study groups. Two of the 95 colonoscopy patients (2.1%) had primary colon cancer and 3 had colitis as the explanation for weight loss. The screening colonoscopy control group resulted in no colon cancers, and the diagnostic colonoscopy control group revealed 4 cancers (4.2%) and 1 case of colitis (1.1%). After excluding diarrhea and constipation, there was 1 case of colitis (1.8%) and no cancer. There were no significant differences among any pair-wise comparisons. Of the EGD cases, there was 1 gastric cancer (1.6%); the non-weight loss control EGDs revealed 2 gastric cancers (3.3%) (p=NS). Conclusion: In the absence of other GI “red flag” features, patients with weight loss rarely harbor an underlying luminal disease; there is no difference in diagnostic yield of endoscopy vs. age and sex-matched controls. These data suggest that pan-endoscopy for weight loss is unlikely to be cost-effective in the absence of other concurrent indications for a GI procedure.

Can the Clinical Examination Diagnose Left-Sided Heart Failure in Adults?

We systematically reviewed the literature to ascertain how well clinicians determine the probability and type of left-sided heart failure in their patients. Left-sided heart failure is characterized by decreased left ventricular ejection fraction or increased filling pressure. The type of heart failure determines optimal treatment. Systolic dysfunction exists when ejection fraction is reduced. Diastolic dysfunction is presumed to be present when filling pressure is increased with a normal ejection fraction and without another explanatory diagnosis. Many findings are associated with heart failure, and wide variation exists in clinicians' ability to detect these findings. The best findings for detecting increased filling pressure are jugular venous distention and radiographic redistribution. The best findings for detecting systolic dysfunction are abnormal apical impulse, radiographic cardiomegaly, and q waves or left bundle branch block on an electrocardiogram. Diastolic dysfunction is especially difficult to diagnose, but is associated with an elevated blood pressure during heart failure.