Fulfilled Criteria For Diagnosis Research Articles

The Importance of Optical Coherence Tomography in the Diagnosis of Atypical or Subclinical Optic Neuritis: A Case Series Study

Background: Optic neuritis (ON) is an inflammatory condition of the optic nerve. ON is associated with development of demyelinating diseases of the central nervous system (CNS). CNS lesions visualized by magnetic resonance imaging (MRI) and the finding of oligoclonal IgG bands (OB) in the cerebrospinal fluid (CSF) are used to stratify the risk of MS after a "first" episode of ON. However, the diagnosis of ON in absence of typical clinical manifestations can be challenging. Methods and Materials: Here we present three cases with changes in the optic nerve and ganglion cell layer in the retina over the disease course. (1) A 34-year-old female with a history of migraine and hypertension had suspect amaurosis fugax (transient vision loss) in the right eye. This patient developed MS four years later. Optical coherence tomography (OCT) showed dynamic changes of the thickness of peripapillary retinal nerve fiber layer (RNFL) and macular ganglion cell-inner plexiform layer (GCIPL) over time. (2) A 29-year-old male with spastic hemiparesis and lesions in the spinal cord and brainstem. Six years later he showed bilateral subclinical ON identified using OCT, visual evoked potentials (VEP) and MRI. The patient fulfilled diagnosis criteria of seronegative neuromyelitis optica (NMO). (3) A 23-year-old female with overweight and headache had bilateral optic disc swelling. With OCT and lumbar puncture, idiopathic intracranial hypertension (IIH) was excluded. Further investigation showed positive antibody for myelin oligodendrocyte glycoprotein (MOG). Conclusions: These three cases illustrate the importance of using OCT to facilitate quick, objective and accurate diagnosis of atypical or subclinical ON, and thus proper therapy.

Monitoring measles outbreaks using emergency department data in France

Abstract Background Measles’ outbreaks still occur in industrialised countries and reactive monitoring of the disease is needed. In France, measles’ monitoring is based on a mandatory notification (MN). Methods In France, for each emergency department (ED) visit, an Electronic ED Abstract (EEDA) is transmitted to the OSCOUR® network included in national Syndromic Surveillance System. EEDA include the diagnosis at discharge using International Classification of Disease (ICD-10). This study aims to evaluate the correlation between the number of measles MN and the number of ED visits related to measles and to calculate the positive predictive value (PPV) of diagnosis at discharge of measles in ED. The study period covered the third wave of the 2008-2011 French outbreak. From 2010 to 2011, we analyzed EEDA transmitted from 32/53 ED of the PACA region and regional measles MN. Using weekly aggregated data, the correlation between the number of measles cases given by both MN and ED sources was assessed (Pearson coefficient). In the 4 ED (2 pediatric) of the teaching hospital of Marseille, electronic medical files coded as measles were reviewed to evaluate the PPV of the diagnosis coded according to the national MN case definition (gold standard). Results 2,949 MN were transmitted and 1,306/1.3 million visits in ED were coded as measles. The peak of the outbreak was reported the same week by EEDA and MN. The correlation between EEDA and MN was strong (0.91; p < 0.001). Hospitalization rate was 20.7% and 21.0% according to EEDA and MN (p = 0.81). Among 363 medical files coded as measles in the 4 ED, 14 cases (3.9%) did not fulfilled the national case definition (PPV: 96.1 [IC95%: 94.2-98.1]), 86 (23.7%) fulfilled criteria for “clinical case” and 263 (72.5%) for “confirmed case". Conclusions Most of the time, ED visits coded as measles fulfilled diagnosis criteria. Our results suggested that EEDA (better reactivity) could be complementary to MN (better completeness) to monitor measles. Key messages Most of the time, ED visits coded as measles fulfilled diagnosis criteria: PPV of coded medical diagnosis in ED for measles is high. Reactivity of ED data monitoring could usefully complete mandatory notification for measles surveillance.

Algorithm for the molecular analysis of Bardet–Biedl syndrome in Spain

Background and objectiveBardet–Biedl syndrome (BBS) is a multisystemic genetic disorder, which is not widespread among the Caucasian population, characterized by a highly variable phenotype and great genetic heterogeneity. BBS belongs to a group of diseases called ciliopathies, caused by defects in the structure and/or function of cilia. Due to the diagnostic complexity of the syndrome, the objective of this study was to analyze our whole group of patients in order to create an algorithm to facilitate the routine molecular diagnosis of BBS. We also calculated several epidemiological parameters in our cohort. Patients and methodWe analyzed 116 BBS patients belonging to 89 families from the whole Spanish geography. All probands fulfilled diagnosis criteria established for BBS. For this, we used: genotyping microarray, direct sequencing and homozygosis mapping (in consanguineous families). ResultsBy means of the different approaches, it was possible to diagnose 47% of families (21% by genotyping microarray, 18% by direct sequencing of predominant BBS genes, and 8% by homozygosis mapping). With regard to epidemiological data, a prevalence value of 1:407,000 was obtained for BBS in Spain, and a sex ratio of 1.4:1 (men:women). ConclusionsThe proposed algorithm, based on the analysis of predominant BBS genes combined with homozygosis mapping, allowed us to confirm the molecular diagnosis in a significant percentage of families with clinically suspected BBS. This diagnostic algorithm will be useful for the improvement of the efficiency of molecular analysis in BBS.

Algoritmo para el estudio molecular del síndrome de Bardet-Biedl en España

Background and objectiveBardet-Biedl syndrome (BBS) is a multisystemic genetic disorder, which is not widespread among the Caucasian population, characterized by a highly variable phenotype and great genetic heterogeneity. BBS belongs to a group of diseases called ciliopathies, caused by defects in the structure and/or function of cilia. Due to the diagnostic complexity of the syndrome, the objective of this study was to analyse our whole group of patients in order to create an algorithm to facilitate the routine molecular diagnosis of BBS. We also calculated several epidemiological parameters in our cohort. Patients and methodWe analysed 116 BBS patients belonging to 89 families from the whole Spanish geography. All probands fulfilled diagnosis criteria established for BBS. For this, we used: genotyping microarray, direct sequencing and homozygosis mapping (in consanguineous families). ResultsBy means of the different approaches, it was possible to diagnose 47% of families (21% by genotyping microarray, 18% by direct sequencing of predominant BBS genes, and 8% by homozygosis mapping). With regard to epidemiological data, a prevalence value of 1:407,000 was obtained for BBS in Spain, and a sex ratio of 1.4:1 (men:women). ConclusionsThe proposed algorithm, based on the analysis of predominant BBS genes combined with homozygosis mapping, allowed us to confirm the molecular diagnosis in a significant percentage of families with clinically suspected BBS. This diagnostic algorithm will be useful for the improvement of the efficiency of molecular analysis in BBS.

Marshall syndrome (PFAPA). Experience of pediatric clinic from Sibiu

PFAPA is a chronic condition including recurrent fever episodes, aphthous stomatitis, pharyngitis and adenitis. The authors emphasize peculiarities regarding diagnosis, evolution and cytokinic profile for PFAPA patients. 22 patients with PFAPA were included in study. Patients that fulfilled diagnosis criteria were analyzed regarding symptoms onset age, period of time between episodes and between disease onset and diagnosis and also data about inflammatory status. Authors compared 2 groups: “PFAPA group” including 6 patients (between febrile episodes) and “Non-PFAPA group” including 4 healthy children. Both groups were analyzed regarding serum levels of inflammatory markers and cytokines in order to identify a biological sensitive marker for PFAPA evolution pattern. Data was statistically analyzed using “independent sample t test”. Results. Authors noticed a low suspicion index for PFAPA diagnosis (underdiagnosed disorder) and significant statistical differences between the 2 groups regarding C reactive protein (CRP) serum value. Conclusions. PFAPA diagnosis is established lately, so it’s useful to disseminate information about disease. CRP remains a sensitive marker for disease activity in PFAPA patients, even out of fever attacks.

594 - Clerking in confusion

Introduction Delirium is common but often under-diagnosed. Early detection and diagnosis are vital for better prognosis, placing emphasis on the quality of the admission clerking. NICE recommends using the Confusion Assessment Method (CAM) when assessing such patients. For a delirium diagnosis patients have to fulfill the CAM criteria. Aim To establish if the CAM is a useful tool in clerking patients presenting with confusion. Objectives 1. Assess uptake of the CAM 2. Identify how many patients presenting with confusion fulfill diagnosis criteria 3. Determine if the CAM results in a lower number of amended diagnoses 4. Describe associations between clinical findings and diagnosis 5. Evaluate junior doctor knowledge about the CAM Methods A prospective audit was performed to assess the quality of clerking in fifty patients presenting with “confusion’. The second phase involved a qualitative questionnaire to assess junior doctor knowledge of the CAM. Results CAM was not used to make any diagnosis. Only 4% of clerkings fulfilled diagnosis criteria. Patients diagnosed with delirium, who then had their diagnosis amended, did not fulfill CAM criteria on admission. Junior doctor knowledge of delirium diagnosis was poor. Conclusions The CAM is a useful and valuable tool, resulting in fewer unnecessary investigations and a reduced hospital stay. Junior doctor knowledge of it is inadequate explaining why it is not currently being used in practice. We recommend that the CAM should be included in the teaching curriculum. This study shows that further investigation of the aim, and its objective, is warranted and justified.

Adecuación del tratamiento de los pacientes hipertensos con síndrome metabólico

The aim of this study was to know the treatment of hypertensive patients with metabolic syndrome (MetS) attended in primary care setting, as well as the blood pressure and LDL-cholesterol (LDL-c) rates, and to compare these data with those of the hypertensive population without MetS. We analyzed the subset of patients with MetS from those included in the PRESCOT study (a cross-sectional study of hypertensive subjects >18 years attended in primary care). The PRESCOT population was composed by 12,954 patients (49.9% females; 62.1+/-10.7 years). MetS was diagnosed according to NCEP-ATP-III criteria. 6,736 (52%) patients fulfilled diagnosis criteria of MetS (mean age 62.3+/-10.5 years; 43.9% males). Almost all MetS patients (98.2%) were on any medication, and 80.5% were at least on two drugs. Despite hypertensive MetS patients were treated with more antihypertensive medications (45.3% vs 36.6% were on two or more drugs, p < 0.001) and used more lipid-lowering agents (43% vs 39.1%, p < 0.001) than patients without MetS, the blood pressure control (according to European guidelines) and LDL-c control (according to NCEP-ATP III) rates were lower in patients with MetS (17.2% vs 33.6% and 17.2% vs 35.7%, p < 0.0001). Only 4.7% of patients with MetS were adequately controlled for both factors, LDL-c and blood pressure, vs 13.5% of patients without MetS, (p < 0.0001). The presence of MetS in the hypertensive population attended in Spanish primary care settings is very common. Even though in hypertensives with MetS more drugs are prescribed, blood pressure and LDL-c control rates are worse in this population than in patients without MetS.