Time to diagnosis for a rare disease: managing medical uncertainty. A qualitative study.

BACKGROUND: People with a rare disease commonly experience long delays from the onset of symptoms to diagnosis. Rare diseases are challenging to diagnose because they are clinically heterogeneous, and many present with non-specific symptoms common to many diseases. We aimed to explore the experiences of people with myositis, primary immunodeficiency (PID), and sarcoidosis from symptom onset to diagnosis to identify factors that might impact receipt of a timely diagnosis. METHODS: This was a qualitative study using semi-structured interviews. Our approach was informed by Interpretive Phenomenological Analysis (IPA). We applied the lens of uncertainty management theory to tease out how patients experience, assess, manage and cope with puzzling and complex health-related issues while seeking a diagnosis in the cases of rare diseases. RESULTS: We conducted interviews with 26 people with a rare disease. Ten participants had been diagnosed with a form of myositis, 8 with a primary immunodeficiency, and 8 with sarcoidosis. Time to diagnosis ranged from 6 months to 12 years (myositis), immediate to over 20 years (PID), and 6 months to 15 years (sarcoidosis). We identified four themes that described the experiences of participants with a rare disease as they sought a diagnosis for their condition: (1) normalising and/or misattributing symptoms; (2) particularising by clinicians; (3) asserting patients' self-knowledge; and (4) working together through the diagnosable moment. CONCLUSIONS: Managing medical uncertainty in the time before diagnosis of a rare disease can be complicated by patients discounting their own symptoms and/or clinicians discounting the scale and impact of those symptoms. Persistence on the part of both clinician and patient is necessary to reach a diagnosis of a rare disease. Strategies such as recognising pattern failure and accommodating self-labelling are key to diagnosis.

A delayed diagnosis of hyperthyroidism in a patient with persistent vomiting in the presence of Chiari type 1 malformation.

OBJECTIVES: To present and discuss an uncommon clinical presentation of hyperthyroidism in a female patient with Chiari type 1 malformation. We explore how her medical history influenced the diagnostic process and ultimately contributed to the delayed diagnosis. CASE PRESENTATION: In this case study, we discuss an unusual presentation of hyperthyroidism in a 35-year-old female with Chiari type 1 malformation. Initially experiencing headaches, tremors, and dizziness, the patient consulted multiple specialists without a clear diagnosis. Later, she developed recurrent vomiting unrelated to food intake, significant weight loss (12 kg), and muscle weakness, leading to her hospitalization. After six months of clinical evaluation with several specialists (neurologists, neurosurgeons, and gastroenterologists), she was, finally, diagnosed with hyperthyroidism by an Internal Medicine physician in another private clinic. Treatment with thiamazole and propranolol led to the improvement of symptoms progressively. This case emphasizes the vital role of clinical reasoning, crucial problem-solving, and decision-making processes while addressing cognitive biases in medical specialization. Besides, it highlights the need for internist evaluation in outpatient care to ensure comprehensive assessment and prompt specialist referrals if needed. CONCLUSIONS: This case accentuates the importance of internist evaluation for comprehensive care and timely specialist referrals. Recognizing unusual presentations, like thyrotoxic vomiting, and addressing cognitive biases, such as confirmation and anchor biases, are crucial for accurate and prompt diagnosis. This approach enhances diagnostic accuracy, minimizing unnecessary tests and costs, and alleviates patient suffering.

Navigating Dravet syndrome in Spain: A cross-sectional study of diagnosis, management, and care coordination.

OBJECTIVES: Dravet syndrome (DS) is a rare form of refractory epilepsy that begins in the first year of life. Approximately 85% of patients have a mutation in the SCN1A gene, which encodes a voltage-gated sodium channel. The main objective of the present work was to assess the degree of knowledge of DS among Spanish primary care (PC) professionals, the communication flow between them and the pediatric neurologists (PNs), and the services available and resources offered to patients in Spain when searching for a diagnosis and adequate treatment. METHODS: Two anonymized online surveys on DS diagnosis and patient management in PC were conducted with Spanish PC pediatricians (PCPs) and caregivers of DS patients in Spain. RESULTS: Most PCPs are aware of genetic epilepsy but lack full knowledge of DS and patient advocacy groups (PAGs). Access to epilepsy treatments varies among regions, with many referrals to hospitals and pediatric neurologists. Diagnosis is often delayed, with misdiagnoses and frequent emergency room (ER) visits. Treatment involves multiple drugs, and sodium channel blockers are used, which are contraindicated in DS treatment. Improved training, resources, and communication are needed for early diagnosis. SIGNIFICANCE: To improve the care and treatment of DS patients in Spain, early diagnosis is required and, possibly, specific efforts aimed at identifying patients in adulthood, generating socio-sanitary structures that integrate social and health services to provide comprehensive care, taking into account the different features and comorbidities of the disease. PLAIN LANGUAGE SUMMARY: Dravet syndrome (DS) is a form of genetic epilepsy that starts within the first year of life. We present a study showing that, while family doctors are aware of genetic epilepsies, many don't have a complete understanding of DS. Unfortunately, getting the right diagnosis can take a long time, leading to unnecessary visits to the emergency room. Patients often need several medications, and sometimes they're given drugs that aren't recommended for DS. The takeaway is that training for doctors, more resources, and improved communication could help creating better healthcare systems and therefore give easier access to the right therapies.

Do Behavioral Characteristics Influence the Breast Cancer Diagnosis Delay? Evidence From French Retrospective Data.

OBJECTIVES: This study aimed to analyze the behavioral determinants of breast cancer (BC) diagnosis delays in France. To do so, we investigated whether time discounting, risk tolerance, and personality traits influenced the BC diagnosis delay of patients. METHODS: We used original retrospective data collected on 2 large online patient networks from 402 women diagnosed of BC. The BC diagnosis delay was measured by the difference between the date of diagnosis and the date of first symptoms. Time discounting and risk tolerance are measured with both self-reported questions and hypothetical lotteries. Personality traits are measured with the 10-item Big Five indicator. Ordinary least square and probit models were used to analyze whether these behavioral characteristics influenced the BC diagnosis delay. RESULTS: Results showed that risk tolerance and time discounting were not significantly associated with the BC diagnosis delay. However, we found a longer diagnosis delay for women with a neuroticism personality trait (standardized coefficients ranged from 0.104 [P-value = .036] to 0.090 [P-value = .065]). CONCLUSIONS: Overall, our findings underline the need for an increased consideration of cancer screening public health policy for women with mental vulnerabilities since such vulnerabilities were found to be highly correlated with a neuroticism personality trait.

Corrigendum: Assessing heterogeneity of patient and health system delay among TB in a population with internal migrants in China.

[This corrects the article DOI: 10.3389/fpubh.2024.1354515.].

Delays in the diagnosis and surgical treatment of drug-resistant epilepsy: A cohort study.

OBJECTIVE: Delay in referral for epilepsy surgery of patients with drug-resistant epilepsy (DRE) is associated with decreased quality of life, worse surgical outcomes, and increased risk of sudden unexplained death in epilepsy (SUDEP). Understanding the potential causes of delays in referral and treatment is crucial for optimizing the referral and treatment process. We evaluated the treatment intervals, demographics, and clinical characteristics of patients referred for surgical evaluation at our level 4 epilepsy center in the U.S. Intermountain West. METHODS: We retrospectively reviewed the records of patients who underwent surgery for DRE between 2012 and 2022. Data collected included patient demographics, DRE diagnosis date, clinical characteristics, insurance status, distance from epilepsy center, date of surgical evaluation, surgical procedure, and intervals between different stages of evaluation. RESULTS: Within our cohort of 185 patients with epilepsy (99 female, 53.5%), the mean ± standard deviation (SD) age at surgery was 38.4 ± 11.9 years. In this cohort, 95.7% of patients had received definitive epilepsy surgery (most frequently neuromodulation procedures) and 4.3% had participated in phase 2 intracranial monitoring but had not yet received definitive surgery. The median (1st-3rd quartile) intervals observed were 10.1 (3.8-21.5) years from epilepsy diagnosis to DRE diagnosis, 16.7 (6.5-28.4) years from epilepsy diagnosis to surgery, and 1.4 (0.6-4.0) years from DRE diagnosis to surgery. We observed significantly shorter median times from epilepsy diagnosis to DRE diagnosis (p < .01) and epilepsy diagnosis to surgery (p < .05) in patients who traveled further for treatment. Patients with public health insurance had a significantly longer time from DRE diagnosis to surgery (p < .001). SIGNIFICANCE: Both shorter distance traveled to our epilepsy center and public health insurance were predictive of delays in diagnosis and treatment intervals. Timely referral of patients with DRE to specialized epilepsy centers for surgery evaluation is crucial, and identifying key factors that may delay referral is paramount to optimizing surgical outcomes.

Risk factors for diagnosis and treatment delay among patients with multidrug-resistant tuberculosis in Hunan Province, China.

BACKGROUND: Multidrug-resistant tuberculosis (MDR-TB) is a global health threat associated with high morbidity and mortality rates. Diagnosis and treatment delays are associated with poor treatment outcomes in patients with MDR-TB. However, the risk factors associated with these delays are not robustly investigated, particularly in high TB burden countries such as China. Therefore, this study aimed to measure the length of diagnosis and treatment delays and identify their risk factors among patients with MDR-TB in Hunan province. METHODS: A retrospective cohort study was conducted using MDR-TB data from Hunan province between 2013 and 2018. The main outcomes of the study were diagnosis and treatment delay, defined as more than 14 days from the date of symptom to diagnosis confirmation (i.e., diagnosis delay) and from diagnosis to treatment commencement (i.e., treatment delay). A multivariable logistic regression model was fitted, and an adjusted odds ratio (AOR) with a 95% confidence interval (CI) was used to identify factors associated with diagnosis and treatment delay. RESULTS: In total, 1,248 MDR-TB patients were included in this study. The median length of diagnosis delays was 27 days, and treatment delays were one day. The proportion of MDR-TB patients who experienced diagnosis and treatment delay was 62.82% (95% CI: 60.09-65.46) and 30.77% (95% CI: 28.27-33.39), respectively. The odds of experiencing MDR-TB diagnosis delay among patients coming through referral and tracing was reduced by 41% (AOR = 0.59, 95% CI: 0.45-0.76) relative to patients identified through consultations due to symptoms. The odds of experiencing diagnosis delay among ≥ 65 years were 65% (AOR = 0.35, 0.14-0.91) lower than under-15 children. The odds of developing treatment delay among foreign nationalities and people from other provinces were double (AOR = 2.00, 95% CI: 1.31-3.06) compared to the local populations. Similarly, the odds of experiencing treatment delay among severely ill patients were nearly 2.5 times higher (AOR = 2.49, 95% CI: 1.41-4.42) compared to patients who were not severely ill. On the other hand, previously treated TB cases had nearly 40% (AOR = 0.59, 95% CI: 0.42-0.85) lower odds of developing treatment delay compared with new MDR-TB cases. Similarly, other ethnic minority groups had nearly 40% (AOR = 0.57, 95% CI: 0.34-0.96) lower odds of experiencing treatment delay than the Han majority. CONCLUSIONS: Many MDR-TB patients experience long diagnosis and treatment delays in Hunan province. Strengthening active case detection can significantly reduce diagnosis delays among MDR-TB patients. Moreover, giving attention to patients who are new to MDR-TB treatment, are severely ill, or are from areas outside Hunan province will potentially reduce the burden of treatment delay among MDR-TB patients.

Assessing heterogeneity of patient and health system delay among TB in a population with internal migrants in China.

Backgrounds: The diagnostic delay of tuberculosis (TB) contributes to further transmission and impedes the implementation of the End TB Strategy. Therefore, we aimed to describe the characteristics of patient delay, health system delay, and total delay among TB patients in Shanghai, identify areas at high risk for delay, and explore the potential factors of long delay at individual and spatial levels. Method: The study included TB patients among migrants and residents in Shanghai between January 2010 and December 2018. Patient and health system delays exceeding 14 days and total delays exceeding 28 days were defined as long delays. Time trends of long delays were evaluated by Joinpoint regression. Multivariable logistic regression analysis was employed to analyze influencing factors of long delays. Spatial analysis of delays was conducted using ArcGIS, and the hierarchical Bayesian spatial model was utilized to explore associated spatial factors. Results: Overall, 61,050 TB patients were notified during the study period. Median patient, health system, and total delays were 12 days (IQR: 3-26), 9 days (IQR: 4-18), and 27 days (IQR: 15-43), respectively. Migrants, females, older adults, symptomatic visits to TB-designated facilities, and pathogen-positive were associated with longer patient delays, while pathogen-negative, active case findings and symptomatic visits to non-TB-designated facilities were associated with long health system delays (LHD). Spatial analysis revealed Chongming Island was a hotspot for patient delay, while western areas of Shanghai, with a high proportion of internal migrants and industrial parks, were at high risk for LHD. The application of rapid molecular diagnostic methods was associated with reduced health system delays. Conclusion: Despite a relatively shorter diagnostic delay of TB than in the other regions in China, there was vital social-demographic and spatial heterogeneity in the occurrence of long delays in Shanghai. While the active case finding and rapid molecular diagnosis reduced the delay, novel targeted interventions are still required to address the challenges of TB diagnosis among both migrants and residents in this urban setting.

The impact of comorbidity on the diagnosis delay, treatment options and prognosis for advanced oral cancer: A retrospective result of the POROMS database.

This study aimed to reveal the underlying mechanisms linking advanced oral squamous cell carcinoma (OSCC) with its comorbidities. Data extracted from the POROMS database included 448 advanced OSCC patients in stage III or IV (AJCC 8th) with primary tumors between August 2015 and August 2021. Time to diagnosis delay increased from 4.5, 5.3-6.5 months when the Adult Comorbidity Evaluation-27 (ACE-27) worsened from none, mild (RR: 1.155, 1.043-1.279; P = 0.006) to moderate-severe (RR: 1.431, 1.251-1.636; P < 0.001). With the number of comorbidities increased from 0, 1-2 (RR: 1.188, 1.078-1.310; P = 0.001) to 3 (RR: 1.563, 1.296-1.885; P < 0.001), the time to diagnosis delay increased from 4.5, 5.4-7.1 months. As the level and number of comorbidities increased, the likelihood of treatment completion gradually declined, especially in those older than 65 years (P = 0.003). The presence of comorbidity was an independent prognostic factor for disease-free survival (HR: 1.431, 1.022-2.005; P = 0.037). Comorbidities may lead to poorer prognosis by directly causing delays in diagnosis, limiting treatment options, and increasing the risk of death in advanced OSCC patients.

Celiac Disease in Moroccan Children: Diagnostic Characteristics and Determinants of Diagnosis Delay.

Advances in the field of celiac disease have led to a better understanding of the disease, but it remains underdiagnosed and poses a daily challenge to clinicians to make a timely diagnosis. This study aims to analyze and describe diagnosis characteristics, diagnosis delay, and the factors influencing this delay in Moroccan children. Our study included 324 children diagnosed during the study period from January 01, 2010, to December 30, 2019, at the Department of Pediatrics, Hassan II University Hospital in Fez, Morocco. Data were collected using a collection grid and then analyzed using SPSS 26 software (IBM Corp., Armonk, NY). The results showed a female predominance (n=197, 60.8%), with a diagnosis age of 73.8±46.8 months. The mean age onset of symptoms was 51.3±41.2 months, and the diagnosis delay was 22.2±22.6 months, with only 32.7% (n=106) diagnosed less than 12 months after symptom onset. The most common consultation reason was diarrhea (n=149, 46%) and growth delay (n=105, 32.4%) and 50.5% (n=98) of parents consulted a pediatrician first. The three clinical, serologic, and histologic criteria made it possible to agree on the diagnosis, with the clinical profile dominated by the digestive form at 84.9% (n=279), serologic with the presence of IgA transglutaminase antibodies (95.7%; n=310), and histologic with villous atrophy at 91.7% (n=297). Unfortunately, 14.8% (n=48) of the children were diagnosed with a celiac crisis. The multivariate logistic regression analysis showed that as symptoms onset age increased, so did the risk of late diagnosis (OR=0.96, 95% CI: 0.94 to 0.97, p<0.001). Age of diagnosis was also associated with delayed diagnosis (OR=19.68, 95% CI: 8.77 to 44.15, p<0.001). The combination of these variables and the diagnosis delay argues in favor of adopting a diagnosis strategy that includes raising awareness among healthcare professionals of the need to identify typical and atypical cases early in order to reduce the adverse effects of late diagnosis and the complications that can result. This methodology for improving diagnoses may also unearth previously unknown aspects of celiac disease in Moroccan children.

Has the COVID-19 pandemic changed the clinical picture and tumour stage at the time of presentation of patients with colorectal cancer? A retrospective cohort study / ¿Ha cambiado la pandemia de COVID-19 la presentación clínica y el estadio tumoral en el momento del diagnóstico en los pacientes con cáncer colorrectal? Estudio retrospectivo de cohortes

Introduction: Treatment of patients with Coronavirus Disease 2019 (COVID-19) has affected the management of patients with colorectal cancer (CRC). The aim of this study was to compare the diagnosis delay, symptoms, and stage of patients with CRC during the pandemic with a control cohort.Material and methods: Patients referred to the CRC multidisciplinary team between September 2019 and January 2020 (cohort 1, control group) were compared with those who presented between September 2020 and March 2021 (cohort 2, pandemic group).Results: 389 patients were included, 169 in cohort 1 and 220 in cohort 2. No differences were observed in the main characteristics of the patients. CRC screening and anaemia were the most common causes leading to the diagnosis of the tumour in cohort 1 and 2, respectively (p<0.001). Diagnostic and therapeutic delay was longer in cohort 2 [6.4 (95% CI 5.8–6.9) vs. 4.8 (95% CI 4.3–5.3) months, p<0.001]. More patients required non-elective treatment in the pandemic cohort (15.5% vs. 9.5%, p=0.080). The tumour stage was more advanced in patients in cohort 2 [positive nodes in 52.3% vs. 36.7% (p=0.002), and metastatic disease in 23.6% vs. 16.6% (p=0.087)].Conclusion: CRC patients in the pandemic cohort had a longer diagnostic and therapeutic delay and less patients were diagnosed because of CRC screening. In addition, patients with CRC during the pandemic needed non-elective treatment more frequently than patients in the control cohort, and their tumour stage tended to be more advanced. (AU)

Introducción: La pandemia de la enfermedad por coronavirus 2019 ha afectado al manejo de los pacientes con cáncer colorrectal (CCR). El objetivo de este estudio fue comparar el retraso diagnóstico, la sintomatología y el estadio de los pacientes con CCR durante la pandemia con una cohorte histórica. Material y métodos: Los pacientes valorados en el comité multidisciplinar de CCR entre septiembre de 2019 y enero de 2020 (cohorte 1) se compararon con los presentados entre septiembre de 2020 y marzo de 2021 (cohorte 2). Resultados: Trescientos ochenta y nueve pacientes fueron incluidos, 169 en la cohorte 1 y 220 en la cohorte 2. El cribado del CCR y la anemia fueron las causas que llevaron al diagnóstico en más pacientes en la cohorte 1 y 2, respectivamente (p<0,001). El retraso diagnóstico y terapéutico fue mayor en la cohorte 2 (6,4 [IC 95%: 5,8-6,9] vs. 4,8 [IC 95%: 4,3-5,3] meses, p<0,001). En la cohorte pandémica hubo más pacientes que requirieron tratamiento urgente (15,5% vs. 9,5%, p=0,080). El estadio tumoral fue más avanzado en la cohorte 2 (ganglios positivos en el 52,3% vs. 36,7% [p=0,002] y enfermedad metastásica en el 23,6% vs. 16,6% [p=0,087]). Conclusión: Los pacientes con CCR en la cohorte pandémica tenían un retraso diagnóstico y terapéutico más largo, y menos pacientes fueron diagnosticados en el cribado de CCR. Además, los pacientes con CCR durante la pandemia necesitaron tratamiento urgente con más frecuencia y su estadio tumoral fue más avanzado. (AU)

Differences in the clinical picture at the onset of diagnosis of severe autoimmune hypothyroidism in children depending on the time of diagnosis: before or during the SARS-CoV-2 pandemic.

INTRODUCTION: There are few data about effects of COVID-19 on thyroid disease presentation in children, due to difficulties in healthcare services access. AIM OF THE STUDY: To assess the differences in hypothyroidism presentation before and during the COVID-19 pandemic. MATERIAL AND METHODS: All paediatric patients with autoimmune hypothyroidism (AIT) diagnosed from January 2017 to December 2022 were analysed. RESULTS: A total of 150 subjects were enrolled (94 in before and 56 during the pandemic period). Severe AIT was detected in 7.4% before and 12.5% during the pandemic. Age at the onset in the pre-pandemic period was lower ( p = 0.04). Diagnosis delay (time elapsed from onset of symptoms and diagnosis) was significantly different between the before and during the pandemic groups ( p = 0.02). In the pre-pandemic period the TSH value was 447.7 ±59.1, and it was 713.7 ±104.4 mUI/l during the pandemic ( p = 0.04), whereas mean fT4 values were 2.66 ±0.34 and 0.58 ±0.08 ng/l, respectively ( p = 0.0002). Significantly greater thyroid volume and bone age delay SDS were observed during the pandemic ( p = 0.04). Neurological symptoms were mostly observed during the pandemic, especially slow speech and impaired school performance. CONCLUSIONS: A higher rate of severe AIT was observed during the pandemic period, mostly related to difficulties in access to healthcare services. The diagnosis delay led to a more severe biochemical thyroid hormone profile, goitre, and more frequent presence of bone age delay and neurological symptoms at the onset. Recognizing hypothyroidism and recalling symptoms in child-hood, even if often non-specific, is fundamental for avoiding diagnosis delay.

Perfil de pacientes con enfermedades minoritarias en Galicia. Perspectiva desde la medicina interna / Clinical profile of patients with rare diseases. An approach from Internal Medicine

Objetivos: Las enfermedades minoritarias constituyen un grupo heterogéneo de patologías de baja prevalencia, con un origen genético en la mayoría de los casos y frecuentemente asociadas a un retraso en su diagnóstico y notable morbi-mortalidad. Conocer las características clínicas y el grado de complejidad asistencial de los pacientes con enfermedades minoritarias que acuden a las consultas de medicina interna en Galicia podría facilitar una atención más eficaz y eficiente. Material y métodos: Estudio epidemiológico, transversal y multicéntrico en pacientes con enfermedad de baja prevalencia ≥ 18 años atendidos en las consultas y unidades específicas de medicina interna en Galicia hasta el 31 de Diciembre de 2020. Se obtuvieron de cada centro el número de pacientes atendidos según la patología, la media en años desde la aparición de los síntomas, número de comorbilidades, número de visitas anuales al centro y a otros especialistas, número de tratamientos (incluidos aquellos de alto impacto económico), grado de deterioro cognitivo y estimación del nivel de dependencia. Resultados: Se analizaron los indicadores de seis centros correspondientes a seis áreas sanitarias de Galicia, representando a un total de 324 pacientes, con una edad media de 41,3 ±15,8 años. Los tres principales grupos de patologías atendidas fueron por este orden las enfermedades genéticas raras, los errores innatos del metabolismo y las enfermedades neurológicas raras. El retraso medio en el diagnóstico fue de 4,8 ±7,9 años y un 34,17% de los pacientes tardaron 5 o más años en tener una confirmación diagnóstica. Este grupo de mayor retraso diagnóstico presenta menor puntuación en la escala de dependencia de Barthel y 1,75 veces mayor utilización de recursos sanitarios (consultas a medicina interna y otras especialidades). El 11,75% de los pacientes presentan un nivel de dependencia severa o total y el 9,9%, un bajo coeficiente intelectual. Conclusiones: ... (AU)

Objectives: Rare diseases (RD) constitute a heterogeneous group of low prevalence conditions, with genetic origin in most cases and frequently associated with a delay in their diagnosis and notable morbidity and mortality. Knowing the clinical profile and the complexity degree of patientswith RD who attend internal medicine units in Galicia could facilitate more effective and efficient care settings. Methods: Epidemiological, cross-sectional and multicenter study in patients with low prevalence diseases ≥ 18 years attending the outpatients departments and specific units of internal medicine in Galicia up to December 31, 2020. Data were collected on the number of patients treatedregarding their condition at each center, the average age at disease onset, number of comorbidities, number of annual visits to the center and other specialists, number of treatments (including those with a high economicimpact), degree of cognitive impairment and assessment of the degree of autonomy. Results: We analyzed data from six participating centers (from six healthareas of Galicia), representing a total of 324 patients, with a mean age of 41.3 ±15.8 years. The three main groups of pathologies treated were, in this order, rare genetic diseases, innate errors of metabolism and rareneurological diseases. The mean delay in diagnosis was 4.8 ±7.9 years and 34.17% of patients took 5 or more years to have a diagnostic confirmation. This group with the longest diagnostic delay has a lower scoreon the Barthel dependency scale and 1.75 times greater use of health resources (consultations with internal medicine and other specialties). 11.75% of the patients present a level of severe or total dependence and 9.9%, a low IQ. Conclusions: Despite their low average age, patients with minority diseases treated in internal medicine services present a high complexity of care derived from the number of comorbidities, visits to consultations, the need for hospital admissions and polypharmacy... (AU)

Time intervals from the first symptom to surgery of ovarian malignancies in a tertiary government hospital

@#<p style="text-align: justify;"><strong>Objective.</strong> This is a cross-sectional study aimed to determine the time intervals from the first symptom to surgery of 37 patients with ovarian malignancies who underwent surgery at a tertiary government hospital from June to October 2019.</p><p style="text-align: justify;"><strong>Methods.</strong> Structured interviews of patients and chart reviews were conducted to identify the intervals and the reasons behind such. The data were analyzed using Stata/SE 14.1, with the time intervals presented as medians and the reasons as frequencies. Multinomial logistic regression analysis established the association of time intervals with the extent of surgery and final stage of ovarian malignancies.</p><p style="text-align: justify;"><strong>Results.</strong> The median Total Time Interval from the first symptom to surgery was 214 days. The longest delay was the Total System Interval (from the first visit at the tertiary hospital to surgery) with a median of 70 days. This was followed closely by Patient Interval (from the first symptom to consult with the initial physician) with a median of 64 days. A distant third was the Initial Physician Interval (from the consult with the initial physician to the first visit at the tertiary hospital) with a median of 29 days. Most common reasons for the delays were the patients not acknowledging the gravity of their condition for the Patient Interval; choice to go to other hospitals, distance and laboratory works or diagnostics for the Initial Physician Interval; waiting for laboratory work-ups for the First System Interval; and waiting for other departments' clearance for the Second System Interval. The most common first symptom was abdominal enlargement. The length of interval and the final stage (p=0.056 for Stage III and p=0.162 for Stage IV)) as well as extent of surgery (p=0.093) did not show significant association.</p><p style="text-align: justify;"><strong>Conclusion.</strong> The time interval from first symptom to surgery showed a median of 214 days. The greatest delay is contributed by Total System Interval followed by Patient Interval due to varying reasons. Length of time intervals, however, was not found to be significantly associated with the extent of surgery and final stage</p>

Analysis of the delay of the first visit of new smear positive TB patients and the influencing factors in MaCheng of Hubei Province, 2016 -2018 / 公共卫生与预防医学

Objective: To explore the delay in the first diagnosis of tuberculosis patients in Macheng City from 2016 to 2018 and its influencing factors, so as to provide scientific basis for tuberculosis control. Methods A retrospective survey (face-to-face interview) was conducted on 372 new smear positive TB patients registered in the TB special report system of China's disease prevention and control information system from 2016 to 2018, Then the influencing factors of first visit delay were analyzed by single factor analysis and multi factor Logistic regression analysis. Results Among the 372 TB patients, 230 were delayed in the first diagnosis, the delay rate of the first diagnosis was 61.83%, the median delay time of the first diagnosis was 17.0d, and the average delay time was 37.74d.Multivariate logistic regression analysis showed that family financial difficulties (OR = 31.609, 95% CI: 7.240-138.010), no time (OR= 9.597, 95% CI: 2.014-45.729), not care (OR= 13.232, 95% CI: 2.978-58.804), Far away from the clinic (OR= 15.374, 95% CI: 2.896-81.616), non-agricultural occupational (OR = 31.4439, 95% CI: 4.398-224.8049), first visit in township (OR = 0.171, 95% CI: 0.037-0.785), the difference was statistically significant (P 0.05). Conclusion The first diagnosis delay rate of tuberculosis patients in Macheng City is high, some effective measures should be taken to minimize the first visit of TB patients.

Clinical Features of Relapsing Polychondritis Patients Presented with Arthropathy / 中国医学科学院学报

Objective To explore the clinical characteristics of relapsing polychondritis(RP)patients presented with arthropathy. Methods We retrospectively analyzed the clinical data of 201 RP patients who were hospitalized in our center between December 2005 and February 2019.After 16 patients with co-existing other autoimmune diseases and malignancies were ruled out,185 RP patients entered the final analysis,among whom 16 RP patients were presented with arthropathy and 169 without arthropathy.The demographic data,clinical manifestations,laboratory findings,and prognosis were compared between these two groups. Results Five of the 16 RP patients with arthropathy at presentation were misdiagnosed as rheumatoid arthritis.Compared with RP patients without arthropathy at presentation,RP patients with arthropathy at presentation had a longer disease course[(37.50±66.50)months

COVID-19 y el problema de los tiempos en las estrategias de control / COVID-19 and the problem of the times in the control strategies

Introducción: En el proceso de cuidados de paciente con sospecha de infección por el nuevo coronavirus (COVID-19) se incluyen elementos que deben ser considerados en las estrategias de prevención de la transmisión. Objetivo: Describir, a partir de la presentación de un caso confirmado con COVID-19, la cronología de los cuidados del paciente sospechoso o confirmado con la enfermedad y la necesidad de optimizar los tiempos de diagnóstico en la prevención de su transmisión. Presentación de caso: Paciente masculino de 59 años de edad con antecedentes de Hipertensión arterial y gota, y de profesión taxista. Siete días anteriores al ingreso comienza con los síntomas clínicos y se le realiza prueba rápida para COVID-19, la cual resultó negativa. Al quinto día de ingreso de aislamiento en habitación privada se le realiza PCR y se confirma la infección por coronavirus. Se traslada a institución dedicada a la atención de estos pacientes donde presenta recuperación sin complicaciones. Se describen los intervalos de tiempo en relación con los cuidados en especial énfasis a la demora diagnóstica. Conclusiones: Se requiere un monitoreo de la dinámica de los cuidados de los pacientes sospechosos de COVID-19 con un especial enfoque en el fortalecimiento de la prevención de la transmisión nosocomial y en la comunidad(AU)

Introduction: In the process of caring for patients with suspected coronavirus infection (COVID-19), elements that must be considered in transmission prevention strategies are included. Objective: To describe, based on the presentation of a case confirmed with COVID-19, the chronology of patients suspected or confirmed with the disease and the need to optimize diagnosis times in the transmission prevention. Case presentation: Fifty-nine-year-old male patient with a history of high blood pressure and gout, working as a taxi driver. Seven days before admission, he began with symptoms. A rapid test for COVID-19 was performed, which was negative. On the fifth day of isolation in a private room, PCR was performed and coronavirus infection was confirmed. He was moved to an institution dedicated to the care of these patients where he recovered without complications. Time intervals concerning care are described with special emphasis on diagnostic delay. Conclusion: Monitoring of the care dynamics of patients suspected of COVID-19 is required with a special focus on strengthening the prevention of nosocomial transmission and the prevention of the spreading of the disease in the community(AU)

Delays in the health care system for children, adolescents, and young adults with bone tumors in Brazil / Atrasos no sistema de saúde para crianças, adolescentes e adultos jovens com tumores ósseos no Brasil

ABSTRACT Objective: To identify delays in the health care system experienced by children and adolescents and young adults (AYA; aged 0-29 years) with osteosarcoma and Ewing sarcoma using information from the Brazilian hospital-based cancer registries. Methods: Patient data were extracted from 161 Brazilian hospital-based cancer registries between 2007 and 2011. Hospital, diagnosis, and treatment delays were analyzed in patients without a previous histopathological diagnosis. Referral, hospital, and health care delays were calculated for patients with a previous histopathological diagnosis. The time interval was measured in days. Results: There was no difference between genders in overall delays. All delays increased at older ages. Patients without a previous histopathological diagnosis had the longest hospital delay when compared to patients with a previous histopathological diagnosis before first contact with the cancer center. Patients with Ewing sarcoma had longer referral and health care delays than those with osteosarcoma who had a previous histopathological diagnosis before first contact with the cancer center. The North and Northeast regions had the longest diagnosis delay, while the Northeast and Southeast regions had the longest treatment delay. Conclusion: Health care delay among patients with a previous diagnosis was longer, and was probably associated with the time taken for to referral to cancer centers. Patients without a previous histopathological diagnosis had longer hospital delays, which could be associated with possible difficulties regarding demand and high-cost procedures. Despite limitations, this study helps provide initial knowledge about the healthcare pathway delays for patients with bone cancer inside several Brazilian hospitals.

RESUMO Objetivo: Identificar atrasos no sistema de saúde em crianças e adolescentes e adultos jovens (AAJ; até 29 anos) com osteossarcoma e sarcoma de Ewing com informações dos registros de câncer de base hospitalar do Brasil. Métodos: Os dados dos pacientes foram extraídos de 161 registros de câncer de base hospitalar brasileiros entre 2007 e 2011. Os atrasos no hospital, no diagnóstico e no tratamento foram analisados em pacientes sem um diagnóstico histopatológico anterior. Os atrasos no encaminhamento, no hospital e no sistema de saúde foram calculados para pacientes com diagnóstico histopatológico anterior. O intervalo de tempo foi medido em dias. Resultados: Não houve diferença entre os sexos nos atrasos em geral. Todos os atrasos aumentaram na faixa etária mais velha. Os pacientes sem um diagnóstico histopatológico anterior apresentaram o atraso hospitalar mais longo em comparação com os pacientes com diagnóstico histopatológico anterior antes do primeiro contato com o centro de câncer. Os pacientes com sarcoma de Ewing apresentaram atrasos no encaminhamento e no sistema de saúde mais longos do que os com osteossarcoma, que apresentaram diagnóstico histopatológico anterior antes do primeiro contato com o centro oncológico. As regiões Norte e Nordeste apresentaram o atraso mais longo no diagnóstico, ao passo que as regiões Nordeste e Sul apresentaram o atraso mais longo no tratamento. Conclusão: O atraso no sistema de saúde entre os pacientes com diagnóstico anterior foi maior e provavelmente associado ao tempo de encaminhamento para os centros oncológicos. Os pacientes sem um diagnóstico histopatológico anterior apresentaram atrasos mais longos no hospital, o que pode ser associado a possíveis dificuldades com relação à demanda e aos procedimentos de alto custo. Apesar das limitações, nosso estudo ajuda a fornecer um conhecimento inicial sobre os atrasos no sistema de saúde para tratamento de pacientes com câncer em vários hospitais brasileiros.

An analysis on the delay factors of the treatment and diagnosis among pulmonary tuberculosis patients / 预防医学

Objective To understand the delay factors of the treatment and diagnosis among pulmonary tuberculosis patients, and to provide scientific evidence for tuberculosis control.Methods A total of 128 pulmonary tuberculosis patients who was newly diagnosed and treated in Xiaoshan were enrolled in this study.The data of demography,medical history and tuberculosis knowledge were collected through questionnaires.Statistical method was used to analyze the current situation and delay factors of the treatment and diagnosis.Results The rate of treatment delay was 25.00%.Female patients without hemoptysis symptom,maintenance elderly,little knowledge of tuberculosis and low degree of education were relative to treatment delay among pulmonary tuberculosis patients (P <0.05 ).Multivariate logistic regression analysis showed that female(OR =6.39,95%CI:1.66 -24.61),was the delay factors of treatment.The rate of diagnosis delay was 50.78%.Multivariate logistic regression analysis showed that preliminary treatment in village or private clinics (OR =2.10,95%CI:1.00 -4.39),preliminary treatment without X ray (OR =3.91,95%CI:1.16 -13.19)and maintenance elderly (OR =57.43,95%CI:4.43 -744.30)were risk factors for delayed diagnosis.Conclusion The influencing factor for treatment and diagnosis delay are female,preliminary treatment in village or private clinics,preliminary treatment without X ray and maintenance elderly.