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Asthma is diagnosed on the basis of respiratory symptoms of wheeze, cough, chest tightness, and/or dyspnea together with physiologic evidence of variable expiratory airflow limitation. The prevalence of asthma varies widely around the world, ranging from 0.2% to 21.0% in adults and from 2.8% to 37.6% in 6- to 7-year-old children. Population-based studies in children, adults, and the elderly suggest that from 20% to 70% of people with asthma in the community remain undiagnosed and hence untreated. Underdiagnosis of asthma has been found to be associated with underreporting of respiratory symptoms by patients to physicians as well as poor socioeconomic status. On the opposite side of the spectrum, studies of patients with physician-diagnosed asthma suggest that 30-35% of adults and children diagnosed with asthma do not have current asthma, suggesting that asthma is also overdiagnosed in the community. Overdiagnosis of current asthma can occur because of physicians' failure to confirm variable airflow limitation at the time of diagnosis or when sustained clinical remission of disease goes unrecognized. In this review, we define under- and overdiagnosis and explore the prevalence and burden of under- and overdiagnosis of asthma both in patients and within healthcare systems. We further describe potential solutions to prevent under- and overdiagnosis of asthma.

Variations in testing for Clostridium difficile infection can hinder patients' care, increase the risk of transmission, and skew epidemiological data. We aimed to measure the underdiagnosis of C difficile infection across Europe. We did a questionnaire-based study at 482 participating hospitals across 20 European countries. Hospitals were questioned about their methods and testing policy for C difficile infection during the periods September, 2011, to August, 2012, and September, 2012, to August, 2013. On one day in winter, 2012–13 (December, 2012, or January, 2013), and summer, 2013 (July or August), every hospital sent all diarrhoeal samples submitted to their microbiology laboratory to a national coordinating laboratory for standardised testing of C difficile infection. Our primary outcome measures were the rates of testing for and cases of C difficile infection per 10 000 patient bed-days. Results of local and national C difficile infection testing were compared with each other. If the result was positive at the national laboratory but negative at the local hospital, the result was classified as undiagnosed C difficile infection. We compared differences in proportions with the Mann-Whitney test, or McNemar's test if data were matched. During the study period, participating hospitals reported a mean of 65·8 tests (country range 4·6–223·3) for C difficile infection per 10 000 patient-bed days and a mean of 7·0 cases (country range 0·7–28·7) of C difficile infection per 10 000 patient-bed days. Only two-fifths of hospitals reported using optimum methods for testing of C difficile infection (defined by European guidelines), although the number of participating hospitals using optimum methods increased during the study period, from 152 (32%) of 468 in 2011–12 to 205 (48%) of 428 in 2012–13. Across all 482 European hospitals on the two sampling days, 148 (23%) of 641 samples positive for C difficile infection (as determined by the national laboratory) were not diagnosed by participating hospitals because of an absence of clinical suspicion, equating to about 74 missed diagnoses per day. A wide variety of testing strategies for C difficile infection are used across Europe. Absence of clinical suspicion and suboptimum laboratory diagnostic methods mean that an estimated 40 000 inpatients with C difficile infection are potentially undiagnosed every year in 482 European hospitals. Astellas Pharmaceuticals Europe.

Intimate partner violence (IPV) has a very high prevalence (25%) in society and has serious consequences for its victims. As former studies showed minimal effectiveness of therapeutic interventions addressing IPV, the Dutch guideline for Familial/Domestic Violence (NVVP, 2008) recommends to focus more on systemic factors and on individual risk factors of IPV. ADHD is one of these individual risk factors. This presentation focuses on the association between ADHD and IPV, presenting data and clinical examples. ADHD was missed in 56% of a sample of forensic outpatients. Reasons for this issue of underdiagnosis of ADHD in case of aggression and IPV are discussed. Also, data of the ITAP (impact of treatment of ADHD on IPV) study are presented, showing that ADHD in offenders of IPV with ADHD scored higher on minor physical aggression, minor and severe psychological aggression and clinician-rated IPV than offenders without ADHD. Further, after a one year treatment of ADHD and IPV, decrease in IPV was mainly associated with decrease in ADHD symptoms. The importance of screening and treatment of ADHD symptoms in all IPV offenders is discussed to make treatment of IPV more effective.

Catatonia is a serious, common syndrome of motoric and behavioral dysfunction, which carries high morbidity and mortality. Electroconvulsive therapy (ECT) is the definitive treatment for catatonia, but access to ECT for the treatment of catatonia remains inappropriately limited. Catatonia is observable, detectable, and relevant to various medical specialties, but underdiagnosis impedes the delivery of appropriate treatment and heightens risk of serious complications including iatrogenesis. Current understanding of catatonia's pathophysiology links it to the current understanding of ECT's mechanism of action. Definitive catatonia care requires recognition of the syndrome, workup to identify and treat the underlying cause, and effective management including appropriate referral for ECT. Even when all of these conditions are met, and despite well-established data on the safety and efficacy of ECT, stigma surrounding ECT and legal restrictions for its use in catatonia are additional critical barriers. Addressing the underdiagnosis of catatonia and barriers to its treatment with ECT is vital to improving outcomes for patients. While no standardized protocols for treatment of catatonia with ECT exist, a large body of research guides evidence-based care and reveals where additional research is warranted. The authors conducted a review of the literature on ECT as a treatment for catatonia. Based on the review, the authors offer strategies and future directions for improving access to ECT for patients with catatonia, and propose an algorithm for the treatment of catatonia with ECT. Keywords: catatonia, electroconvulsive therapy, underdiagnosis, algorithm

BackgroundThe frequency and causes of underdiagnosis of chronic inflammatory demyelinating polyneuropathy (CIDP) are uncertain. We aimed to assess the frequency and electroclinical features of pre-referral CIDP underdiagnosis and the duration of delay prior to diagnosis and treatment initiation in a tertiary specialist clinic.MethodsWe retrospectively investigated 60 consecutive patients attending our Inflammatory Neuropathy Service, between 2015 and 2019, with a final diagnosis of treatment-responsive definite/probable CIDP. We reviewed the clinical and electrophysiological data in light of European Federation of Neurological Societies/Peripheral Nerve Society (EFNS/PNS) guidelines and determined the frequency, causes and delay in diagnosis of CIDP.ResultsAn initial alternative diagnosis to that of CIDP had been made in 68.3% (41/60) of patients. The commonest alternative diagnosis was of Guillain–Barré syndrome (GBS) in 23.3% (14/60) patients. Non-GBS underdiagnoses (27/60; 45%) mainly consisted of genetic neuropathy (8/27; 29.6%), diabetic neuropathy (5/27; 18.5%) and chronic idiopathic axonal polyneuropathy (4/27; 14.8%). Non-GBS underdiagnoses were predominantly due to non-recognition of proximal weakness (70.4%), multifocal deficits (18.5%) or proprioceptive loss (7.4%). Electrophysiological misinterpretation was contributory to pre-referral non-GBS underdiagnoses of CIDP in 85% of patients. Mean diagnostic delay in patients with non-GBS underdiagnoses of CIDP was of 21.3 months (range 2–132 months).ConclusionUnderdiagnosis of CIDP is frequent and may lead to significant diagnostic and treatment delay. We suggest that lack of comprehensive and precise attention to typical electroclinical features of CIDP and its diagnostic criteria at the time of initial evaluation are equally contributory to underdiagnoses.

BackgroundDespite the significant psychosocial morbidity associated with borderline personality disorder (BPD), its underrecognition is a significant clinical problem. BPD is likely underdiagnosed, in part, because patients with BPD usually present with chief complaints associated with mood, anxiety, and substance use disorders. When patients with BPD do not exhibit self-harm behavior, we suspect that BPD is less likely to recognized. An important question is whether the absence of this criterion, which might attenuate the likelihood of recognizing and diagnosing the disorder, identifies a subgroup of patients with BPD who are ‘less borderline’ than patients with BPD who do not manifest this criterion.MethodsPsychiatric outpatients were evaluated with a semi-structured diagnostic interview for DSM-IV BPD, 390 of whom were diagnosed with BPD. We compared the demographic and clinical characteristics of patients with BPD who do and do not engage in repeated suicidal and self-harm behavior.ResultsApproximately half of the patients with BPD did not meet the suicidality/self-injury diagnostic criterion for the disorder. There were no differences between the patients who did and did not meet this criterion in occupational impairment, likelihood of receiving disability payments, impairment in social functioning, level of educational achievement, comorbid psychiatric disorders, history of childhood trauma, or severity of depression, anxiety, or anger upon presentation for treatment.ConclusionsRepeated self-injurious and suicidal behavior is not synonymous with BPD. It is critical for clinicians to be aware that the absence of repeated self-injury and suicide threats/gestures or attempts does not rule out the diagnosis of BPD.

Chagas disease constitutes a public health problem, and Spain is the non-endemic country with the highest burden of disease outside the Americas. It represents a model for non-endemic countries regarding health policies to control the disease. This study is aimed to generate estimates of the T.cruzi prevalence and the number of undetected and untreated individuals with the infection in Spain and to compare them with the actual number of cases reported by official sources. Using aggregate data collected from the literature and official sources (Spanish National Statistics Institute; Spanish Agency of Medicines and Medical Devices) from 2010 to 2018, this study estimates the number of Chagas disease cases, plus the underdiagnosis and undertreatment rates. We estimated that 55,367 out of 2,602,285 migrants originally from endemic countries were living with Chagas disease in Spain in 2018, accounting for a prevalence of 2.1%. Only 1% of these cases(613/455,566) were children aged 14 years or less resulting in a prevalence of 0.1%. Bolivian migrants accounted for 53.9% of the total estimated cases. The index of underdiagnosis and undertreatment were heterogeneous across different Spanish autonomous regions, but the overall index of underdiagnosis was around 71%, and the overall index of undertreatment was 82.5% in patients aged 15 years or older, and 60% in children. The burden of Chagas disease in Spain is considerable. Index of underdiagnosis and undertreatment are high, particularly in women of childbearing age, but they have improved in children since the implementation of antenatal screening programmes.

Sarah E Maus,1 Dustin L Norton,1 Amit K Saha,2 Brian J Wells,3 Jill A Ohar11Department of Internal Medicine, Section on Pulmonary, Critical Care, Allergy and Immunologic Diseases, Wake Forest University School of Medicine, Winston-Salem, NC, USA; 2Department of Anesthesiology, Wake Forest University School of Medicine, Winston-Salem, NC, USA; 3Department of Biostatistics and Data Science, Division of Public Health Sciences, Wake Forest School of Medicine, Winston-Salem, NC, USACorrespondence: Dustin L Norton, Section of Pulmonary, Critical Care, Allergy and Immunologic Diseases; 2 Watlington Hall, 1 Medical Center Blvd., Winston Salem, NC, 27157, Tel +1-336-716-7765, Fax +1-336-716-7277, Email [email protected]

Background Acute Hepatic Porphyria (AHP) is a group of four rare genetic but treatable diseases that often go undiagnosed due to its non-specific symptoms, under-recognition of the condition by clinicians, and the lack of access to specialists and appropriate testing. This case-control study investigates the phenotypic and demographic patterns in AHP patients at a tertiary care center (University of California Los Angeles) to update recommendations for recognition and diagnosis of this disease in our community. Method A retrospective chart analysis was conducted on 45 patients who were evaluated for AHP, Electronic Medical Record (EMR) data was collected and analyzed to investigate clinical differences and correlations. Results 27 patients tested positive for AHP through urinary metabolites and confirmatory genetic testing and 18 patients tested negative; of those, 16 patients received a definite alternative diagnosis. Hashimoto’s, Type 1 Diabetes Mellitus (T1DM), Fibromyalgia and cannabinoid use with cyclic vomiting syndrome were negatively correlated with AHP, while psychiatric disorders and obstetrics and gynecology (OBGYN) disorders were positively correlated with AHP. The highest rate of diagnosis resulted from a combination of genetic and biochemical testing. Testing outside of an acute attack was not associated with a positive diagnosis. Conclusions Patients with a history of OBGYN disorders and psychiatric disorders may be at increased risk of having AHP, yet there is a lack of involvement of these specialties in the diagnosis and care of AHP, in addition to a lack of studies investigating AHP in non-white populations potentially leading to reduced recognition of AHP.