Challenges in the diagnosis and management of tumor-induced osteomalacia: A case report.

The present case report is aimed to highlight the difficulty and the reason for the delayed diagnosis of phosphaturic mesenchymal tumors, emphasizing the need of standardized protocols for diagnosis, surgery and follow-up in high-volume hospitals. The clinical signs and symptoms, diagnostic and therapeutic procedures, immunohistological features were analyzed. Delayed diagnosis of phosphaturic mesenchymal tumor was primarily due to non-specific clinical symptoms such as fatigue, muscular and bone pain, and multiple fractures. This cryptic clinical picture made the diagnosis tricky that led to treatment of patient for non-specific pain and stress fractures before to consider the tumor-induced osteomalacia syndrome. Some well-documented studies were found in the literature in which the history of trauma is a critical trigger of glomus tumors. Extra-subungual tumors most frequently occur in the knee and ankle regions, particularly among young adults, and the diagnosis is typically made approximately 7.2 years after initial symptom onset. The difficult tumor localization represented an additional obstacle to the prompt treatment, leading to delayed curative surgery.

Diagnostic delays in systemic vasculitides.

Systemic vasculitides are among the less common disorders encountered in routine rheumatology practice. The low incidence and heterogeneous presentation at onset can potentially lead to delayed diagnosis. Not recognizing these in the early phase may prove detrimental, as some vasculitis may progress to a catastrophic course with major morbidity or mortality. The causes of diagnostic delay may vary among different types of vasculitis and may also be disease-, patient-, or physician-related. Disease-related factors include the myriad presentations with diverse and non-specific symptoms, mimicking other conditions like infections. In addition, some forms have prolonged prodromal phases before evident organ damage. Limited awareness among healthcare professionals, particularly outside rheumatology, and a lack of readily available diagnostic tools contribute to missed diagnoses. Delays in seeking care due to non-specific symptoms or lack of access to specialist care can worsen outcomes. The economic burden also increases with delayed diagnosis and damage accrual when the disease remains unrecognized or untreated for prolonged periods. Although the causes of vasculitis are numerous, including secondary causes, in this review, we focus on diagnostic delays in primary vasculitides and suggest potential steps to identify and treat these diseases early. These include educating both healthcare professionals and the public about the signs and symptoms of vasculitis; expanding the rheumatology workforce and facilitating timely referrals; implementing readily available and reliable tests for early detection; and streamlining care and diagnostic pathways. Such measures have the potential to improve the overall outcomes of the disease, with prolonged remission, minimal damage accrual, and improved quality of life.

Unnecessarily prolonged suffering: a case of missed diagnosis of post-traumatic stress disorder in a teaching hospital / Sofrimento desnecessariamente prolongado: um caso de diagnóstico perdido de transtorno de estresse pós-traumático em um hospital de ensino

ABSTRACT We described a case in which a heavily-traumatized patient had been under psychiatric treatment for seven years (five of them in a university mental health clinic) but was never diagnosed with PTSD and, therefore, did not receive the proper treatment for a very long period. After the correct diagnosis was made and personalized treatment instituted, the patient has shown marked improvement in functionality and wellbeing. The key element in this case, was the adequacy of psychiatric training. Our report suggests that psychiatrists are not being adequately trained to identify traumatic events and to diagnose atypical cases of PTSD. With that in mind, we emphasize that theoretical modules on trauma and trauma-related disorders and practical training in specialized PTSD clinics should be incorporated into the psychiatric residency training programs wherever they may be missing, particularly in countries most impacted by violence. Furthermore, continuing medical education on trauma and PTSD should be provided by medical associations and journals to keep physicians updated on recent progress in the field.

RESUMO Descrevemos o caso de um paciente gravemente traumatizado que estava em tratamento psiquiátrico há sete anos (cinco deles em uma clínica universitária de saúde mental), mas nunca foi diagnosticado com transtorno de estresse pós-traumático (TEPT) e, portanto, não recebeu o tratamento adequado por muito tempo. Após o diagnóstico correto e o tratamento personalizado instituído, o paciente mostrou melhora acentuada na funcionalidade e no bem-estar. O elemento-chave, neste caso, foi a adequação do treinamento psiquiátrico. Nosso relatório sugere que os psiquiatras não estão sendo treinados adequadamente para identificar eventos traumáticos e diagnosticar casos atípicos de TEPT. Com isso em mente, enfatizamos que os módulos teóricos sobre eventos traumáticos e transtornos relacionados ao trauma e treinamento prático em clínicas especializadas de TEPT devem ser incorporados aos programas de treinamento em residência psiquiátrica onde quer que ainda estejam ausentes, particularmente nos países mais afetados pela violência. Além disso, a educação médica continuada sobre trauma e TEPT deve ser fornecida por associações médicas e periódicos científicos para manter os médicos atualizados sobre os avanços recentes na área.

Missing Diagnoses during the COVID-19 Pandemic: A Year in Review.

The COVID-19 pandemic has had major impacts on population health not only through COVID-positive cases, but also via the disruption of healthcare services, which in turn has impacted the diagnosis and treatment of all other diseases during this time. We study changes in all new registered diagnoses in ICD-10 groups during 2020 with respect to a 2019 baseline. We compare new diagnoses in 2019 and 2020 based on administrative records of the public primary health system in Central Catalonia, Spain, which cover over 400,000 patients and 3 million patient visits. We study the ratio of new diagnoses between 2019 and 2020 and find an average decline of 31.1% in new diagnoses, with substantial drops in April (61.1%), May (55.6%), and November (52%). Neoplasms experience the largest decline (49.7%), with heterogeneity in the magnitudes of the declines across different types of cancer diagnoses. While we find evidence of temporal variation in new diagnoses, reductions in diagnoses early in the year are not recouped by the year end. The observed decline in new diagnoses across all diagnosis groups suggest a large number of untreated and undetected cases across conditions. Our findings provide a year-end summary of the impact of the pandemic on healthcare activities and can help guide health authorities to design evidence-based plans to target under-diagnosed conditions in 2021.

Are the Reasons Why Patients Are Referred for an Orthodontic Visit Correct?

Who does refer patients for an orthodontic consultation? Which are the main reasons for the referral? Does the visit of the orthodontic specialist confirm these reasons or reveal undiagnosed problems? Is there the risk that only evident dental problems are addressed, while craniofacial malformations remain underdiagnosed? This cross-sectional epidemiologic study aims to answer these questions, analysing the clinical data collected during the orthodontic visits of 500 Caucasian young patients referred to a public health structure of northern Italy. All patients were visited by the same expert specialist in orthodontics. Clinical data were collected, analysing both dental and skeletal features. The reasons for the referral of the visit were analysed and compared with the specialistic diagnoses. In our sample, dentists, relatives/friends and paediatricians were the major source of the referrals, followed by family doctors and other facial specialists. In most cases, the reasons for the referral were dental irregularities, but approximately 80% of dental irregularities were associated with undiagnosed facial dysmorphism. Skeletal facial anomalies need an early diagnosis to prevent the development of severe facial malformations that would require invasive and expensive treatments. These findings reveal poor diagnostic skills regarding skeletal anomalies in dentists and paediatricians and the need for better specific training.

Delayed diagnoses of mitochondrial cytopathies in patients presenting with end stage kidney disease: two case reports.

BACKGROUND: Up to one third of patients on renal replacement programmes have an unknown cause of kidney disease, and the diagnosis may only be established following renal transplantation when the disease recurs or if new extra-renal symptoms develop. CASE PRESENTATION: We present two patients who presented with progressive chronic kidney disease of unknown cause. Both patients underwent successful renal transplantation but subsequently developed multisystem abnormalities, and were ultimately diagnosed with mitochondrial cytopathy 10-15 years following transplantation. CONCLUSIONS: Mitochondrial cytopathies are rare inborn errors of metabolism that should be considered in adults with renal impairment, especially in those with a family history of kidney or other multisystem disease. The widespread availability of genetic testing provides the potential for earlier diagnoses, thereby enhancing management decisions, anticipation of complications, avoidance of mitotoxic drugs, and informed prognosis prediction.

Teste rápido molecular para tuberculose: da coleta ao início do tratamento / Prueba molecular para detección rápida de tuberculosis: de la recolección del material al inicio del tratamiento / Rapid molecular test for tuberculosis: from collection to beginning of the treatment

RESUMO Objetivo: identificar o tempo decorrido entre a coleta do material para teste rápido molecular e o início do tratamento para tuberculose em unidades que encaminharam amostras para processamento em Unidades centralizadoras. Método: estudo epidemiológico analítico desenvolvido em duas Unidades Básicas de Saúde em Belém-Pará. Foram coletados dados referentes a 296 casos novos com confirmação laboratorial, diagnosticados de dezembro de 2014 a dezembro de 2015. Na análise, utilizou-se o Teste U de Mann-Whitney, p-valor ≤ 0,05 para a correlação entre as variáveis. Resultados: não houve diferença estatisticamente significativa no tempo de liberação dos resultados de exames em Unidades Centralizadoras e Unidades que encaminharam exames para processamento. Quanto ao início do tratamento, houve diferença no tempo entre as unidades centralizadoras e as de abrangência. Conclusão: a centralização do processamento do Teste Rápido Molecular não interfere no tempo para diagnóstico e tratamento da tuberculose, mesmo com o encaminhamento das amostras entre os serviços.

RESUMEN: Objetivo: determinar el tiempo transcurrido desde que se recolecta el material para la prueba molecular rápida hasta que se inicia el tratamiento contra la tuberculosis en unidades que enviaron muestras para su procesamiento en Unidades Centralizadoras. Método: estudio epidemiológico y analítico desarrollado en dos Unidades Básicas de Salud de Belém-Pará. Se recolectaron datos referentes a 296 casos nuevos con confirmación de laboratorio, diagnosticados entre diciembre de 2014 y diciembre de 2015. En el análisis se utilizó la prueba U de Mann-Whitney, con un valor p≤ 0,05 para la correlación entre las variables. Resultados: no se registró ninguna diferencia estadísticamente significativa en el tiempo de emisión de los resultados de los exámenes entre las Unidades Centralizadoras y las Unidades que enviaron exámenes para su procesamiento. En relación con el inicio del tratamiento, sí se registró una diferencia de tiempos entre las Unidades Centralizadoras y las Unidades Básicas. Conclusión: centralizar el procesamiento de la Prueba Molecular para Detección Rápida de la Tuberculosis no interfiere en el tiempo de diagnóstico ni en el tratamiento, incluso considerando el envío de muestras entre servicios.

ABSTRACT Objective: To identify the time elapsed between the collection of material for rapid molecular testing and the start of treatment for tuberculosis in units that forwarded samples for processing in centralizing units. Method: An analytical epidemiological study carried out in two Basic Health Units in Belém-Pará. Data was collected referring to 296 new laboratory confirmed cases diagnosed from December 2014 to December 2015. In the analysis, the Mann-Whitney's U test, p-value ≤ 0.05, was used for the correlation between variables. Results: There was no statistically significant difference in the time of release of the test results in the Centralizing Units and the Units that sent exams for processing. As for the start of treatment, there was a difference in time between the centralizing units and the coverage units. Conclusion: The centralization of the processing of the Rapid Molecular Test does not interfere with the time for diagnosis and treatment of tuberculosis, even with the forwarding of samples between services.

Patients as diagnostic collaborators: sharing visit notes to promote accuracy and safety.

Error resulting from missed, delayed, or wrong diagnoses is estimated to occur in 10-15% of ambulatory and inpatient encounters, leading to serious harm in around half of such cases. When it comes to conceptualizing diagnostic error, most research has focused on factors pertaining to: (a) physician cognition and (b) ergonomic or systems factors related to the physician's working environment. A third factor - the role of patients in diagnostic processes - remains relatively under-investigated. Yet, as a growing number of researchers acknowledge, patients hold unique knowledge about themselves and their healthcare experience, and may be the most underutilized resource for mitigating diagnostic error. This opinion article examines recent findings from patient surveys about sharing visit notes with patients online. Drawing on these survey results, we suggest three ways in which sharing visit notes with patients might enhance diagnostic processes: (1) avoid delays and missed diagnoses by enhancing timely follow up of recommended tests, results, and referrals; (2) identify documentation errors that may undermine diagnostic accuracy; and (3) strengthen patient-clinician relationships thereby creating stronger bidirectional diagnostic partnerships. We also consider the potential pitfalls or unintended consequences of note transparency, and highlight areas in need of further research.

Many Opportunities to Record, Diagnose, or Treat Injection Drug-related Infections Are Missed: A Population-based Cohort Study of Inpatient and Emergency Department Settings.

BACKGROUND: Injection drug use (IDU) and IDU-related infections have increased dramatically. However, the incidence of IDU-related infections may be underreported because drug use is not recorded in diagnostic records where associated infections are identified. Our goal was to estimate a more accurate incidence of IDU-related infections by including IDU-related infections not recorded at the time infections are diagnosed. METHODS: We performed a retrospective cohort study using inpatient and emergency department visits from the Healthcare Cost and Utilization Project for California, Florida, and New York. We identified all patients diagnosed with bacteremia or sepsis, endocarditis, osteomyelitis or septic arthritis, and skin or soft tissue infection. We estimated the incidence of IDU-related infections by identifying cases where drug use was recorded at the time of an infection and cases where drug use was not recorded at the time of infection but within 6 months before or after the infection diagnosis. We also analyzed factors associated with unrecorded IDU. RESULTS: There has been an increasing trend in the number of IDU-related infections. The annual number of IDU-related infections increased between 105% and 218% after incorporating infections in which drug use was unrecorded. Factors associated with drug use being unrecorded included emergency department diagnosis, the level of hospital experience treating drug use, age <18 years, and having Medicare as the primary payer. CONCLUSIONS: More than half of all IDU-related infections may be unrecorded in existing surveillance estimates. There may be many missed opportunities to record, diagnose, or treat underlying drug abuse among patients presenting with IDU-related infections.

Missed Opportunities for HIV Diagnosis.

It has been previously shown that patients may present for multiple health issues in the years preceding their initial HIV diagnosis. This retrospective cohort study analyzed the data of patients with a new HIV diagnosis, at Ochsner Health System between January 1, 2011, and December 31, 2012. The primary end point was missed opportunities, the number of healthcare visits these patients made in the 2 years prior to being diagnosed with HIV. The 125 patients in the study cohort had 649 healthcare visits during which an HIV test was not performed. These missed opportunities are the key to capturing the undiagnosed and unaware HIV-positive individual. Primary care is an ideal setting to conduct HIV testing for those who have access to regular health care. However, nontraditional providers should also be encouraged to conduct HIV testing regardless of their ability to provide treatment because evidence shows that knowledge of the diagnosis may change behavior.