Deciphering the causes of advanced-stage disease at diagnosis among breast cancer patients who attended a suburban hospital in Buenos Aires.

INTRODUCTION: Breast cancer is still one of the main causes of cancer mortality in women worldwide, and death rates are even greater in vulnerable populations. A delay in diagnosis usually comes with advanced-stage disease, which impacts patient survival. The aim of this study was to evaluate the time for first medical consultation among women with breast cancer attending the Magdalena V. de Martínez Hospital and to determine the causes that may influence patient delay and its impact on cancer stage at diagnosis. MATERIALS AND METHODS: Three hundred and six breast cancer patients were interviewed using a self-report questionnaire, and socioeconomic and demographic variables, namely, highest education level completed, employment status and breast cancer awareness, were collected. The answers were associated with patient clinical records, such as clinical staging and tumor size. RESULTS: Forty-nine percent of the patients were diagnosed with advanced-stage disease. These women had either a deficiency in breast cancer awareness, did not visit a gynecologist after age 40 or, were unemployed, while those patients diagnosed with early-stage breast cancer had nonpalpable tumors, declared a sufficient household income or delayed less than four weeks in seeking medical attention. Moreover, the delay in the first medical visit was more than one month in 78% of the patients, being disregard the most common cause of postponement. Additionally, patient delays were associated with larger tumors and with incomplete education. DISCUSSION: These results indicate that early detection efforts should be made to reduce the disease stage at diagnosis, which may impact on overall survival.

Introducción: El cáncer de mama (CM) es una de las principales causas de mortalidad por cáncer en mujeres, y las tasas de mortalidad son aún mayores en poblaciones vulnerables. Un retraso en el diagnóstico suele acompañarse con estadios avanzados de la enfermedad, lo que impacta en la supervivencia del paciente. El objetivo fue evaluar el tiempo transcurrido para la primera consulta médica entre mujeres con CM que asisten al Hospital Magdalena V. de Martínez y determinar las causas que pueden influir en la demora del paciente y su impacto en el estadio al momento del diagnóstico. Materiales y métodos: Se entrevistaron 306 pacientes con CM utilizando un cuestionario autoinformado, y se recopilaron variables socioeconómicas y demográficas, entre ellas, nivel educativo más alto completado, situación laboral y conocimiento sobre el CM. Las respuestas se asociaron con los registros clínicos de las pacientes. Resultados: El 49% de las pacientes fueron diagnosticadas con enfermedad en estadios avanzados. Estas mujeres tenían deficiencias en el conocimiento sobre el CM, no consultó al ginecólogo después de los 40 años o estaba desempleada, mientras que aquellas diagnosticadas con CM en estadios tempranos tenían tumores no palpables, declaraban un ingreso familiar suficiente o demoraban menos de cuatro semanas en buscar atención médica. Además, la demora en la primera visita médica fue de más de un mes en el 78% de las pacientes, siendo el desinterés la causa más común de postergación. Asimismo, las demoras estaban asociadas con tumores más grandes y con una educación incompleta. Discusión: Este estudio sugiere la necesidad de desarrollar estrategias de sensibilización y educación sobre el CM, así como de políticas para mejorar el acceso a la atención médica, especialmente para poblaciones vulnerables, con el fin de reducir el retraso en el diagnóstico y mejorar la salud de las pacientes con CM.

Breast cancer diagnosis and staging in Chile: A non-randomized survey-based study to assess frequency and delays. / Diagnóstico y etapificación de cáncer de mama en Chile: estudio por encuesta no probabilística de III a IV frecuencia y tiempos.

Introduction: Breast cancer progression involves physiological mechanisms such as metastasis. Delays in diagnosis and treatment increase the risk of mortality and are associated with barriers to healthcare access. In Chile, breast cancer is highly prevalent, and early diagnosis has improved, although disparities in the disease evolution persist. This study characterized diagnostic and staging tests, waiting times, and sociodemographic profiles to identify delays and inequities in care. Methods: Survey study. Using a non-probabilistic sample, a questionnaire was applied in an encrypted platform with prior informed consent. The instrument collected data on requested tests, associated times, staging, and sociodemographic characteristics. These variables were analyzed using descriptive statistics, tests of association, confidence intervals, and comparison tests using bootstrapping. Results: A sample of 263 persons was obtained. The most requested tests were biopsy (99.62%) and blood tests (80.23%). The median number of tests requested was six (Q1:4, Q3:8), with a mean of 5.87 (standard deviation: 2.24). No significant differences were observed in the percentage of persons from whom the total number of examinations were requested according to the studied variables. The day-hour-result intervals ranged from 1 to 365 days. The median day-hour-result of the biopsy was 15 days (Q1:10, Q3:30). People between 40 and 49 years old, non-residents of the capital city, belonging to income quintile I, with high school education, from the public health system, with late-stage diagnosis had higher median day-hour-result in biopsy. There was no significant difference in the number of requested tests according to staging (I and II, or III and IV). Conclusions: Biopsy in Chile is the test of choice for diagnostic confirmation in breast cancer. Other tests are requested regardless of the diagnosis stage, contrary to the recommendations of clinical guidelines. Cancer prognosis is crucial, especially in countries with greater inequalities.

Introducción: La progresión del cáncer de mama involucra mecanismos fisiológicos como metástasis. Los retrasos en diagnóstico y tratamiento aumentan el riesgo de mortalidad y se asocian a barreras de acceso a la salud. En Chile, el cáncer de mama es altamente prevalente y su diagnóstico temprano ha mejorado, aunque persisten disparidades en el proceso de enfermedad. Este estudio caracterizó exámenes de diagnóstico y etapificación, tiempos de espera y perfiles sociodemográficos para identificar demoras e inequidades en la atención. Métodos: Estudio de encuesta. Utilizando una muestra no probabilística, se aplicó un cuestionario en plataforma encriptada previo consentimiento informado. En el instrumento se recogieron datos de exámenes solicitados, tiempos asociados, etapificación y características sociodemográficas. Estas variables fueron analizadas utilizando estadística descriptiva, test de asociación, intervalos de confianza y test de comparación utilizando . Resultados: Se logró una muestra de 263 personas. Los exámenes más solicitados fueron biopsia (99,62%) y exámenes de sangre (80,23%). La mediana de exámenes solicitados fue de 6 (Q1:4, Q3:8), con media 5,87 (desviación estándar: 2,24). No se observaron diferencias significativas en el porcentaje de personas a quienes se solicitó la totalidad de exámenes según variables estudiadas. Los intervalos día-hora-resultado oscilaron entre 1 y 365 días. La mediana día-hora-resultado de la biopsia fue de 15 días (Q1:10, Q3:30). Las personas entre 40 y 49 años, no residentes de la capital, pertenecientes al quintil I de ingreso, con educación media, del sistema público de salud, con diagnóstico en etapa tardía presentaron mayores medianas de día-hora-resultado en biopsia. No hubo diferencia significativa en la cantidad de exámenes solicitados según etapificación (I a II y III a IV). Conclusiones: La biopsia en Chile es el examen de elección para la confirmación diagnóstica en cáncer de mama. Otros exámenes son solicitados independientemente de la etapa del diagnóstico, existiendo una discordancia con las recomendaciones de la guía clínica. El pronóstico del cáncer es crucial, especialmente en países con mayores inequidades.

Barriers and facilitators to tuberculosis diagnosis in Lima, Peru: a mixed methods study.

BACKGROUND: Tuberculosis (TB) infectiousness decreases significantly with only a few days of treatment, but delayed diagnosis often leads to late treatment initiation. We conducted a sequential explanatory mixed methods study to understand the barriers and facilitators to prompt diagnosis among people with TB. METHODS: We enrolled 100 adults who started TB treatment in the Carabayllo district of Lima, Peru, between November 2020 and February 2022 and administered a survey about their symptoms and healthcare encounters. We calculated total diagnostic delay as time from symptom onset to diagnosis. We conducted semi-structured interviews of 26 participants who had a range of delays investigating their experience navigating the health system. Interview transcripts were inductively coded for concepts related to diagnostic barriers and facilitators. RESULTS: Overall, 38% of participants sought care first from public facilities and 42% from the private sector. Only 14% reported being diagnosed with TB on their first visit, and participants visited a median of 3 (interquartile range [IQR] health facilities before diagnosis. The median total diagnostic delay was 9 weeks (interquartile range [IQR] 4-22), with a median of 4 weeks (IQR 0-9) before contact with the health system and of 3 weeks (IQR 0-9) after. Barriers to prompt diagnosis included participants attributing their symptoms to an alternative cause or having misconceptions about TB, and leading them to postpone seeking care. Once connected to care, variations in clinical management, health facility resource limitations, and lack of formal referral processes contributed to the need for multiple healthcare visits before obtaining a diagnosis. Facilitators to prompt diagnosis included knowing someone with TB, supportive friends and family, referral documents, and seeing a pulmonologist. CONCLUSIONS: Misinformation about TB among people with TB and providers, poor accessibility of health services, and the need for multiple encounters to obtain diagnostic tests were major factors leading to delays. Extending the hours of operation of public health facilities, improving community awareness and provider training, and creating a formal referral process between the public and private sectors should be priorities in the efforts to combat TB.

Impact of COVID-19 pandemic among patients with lung and head and neck cancer assisted in a public cancer center in Brazil.

BACKGROUND: There is no updated national data regarding the real impact of the COVID-19 pandemic on delaying diagnosis and treatment among patients with lung, and head, and neck cancers in Brazil. This study aimed to analyze the COVID-19 pandemic impact on cancer diagnosis and clinical outcomes among lung, head, and neck cancer patients assisted in a tertiary cancer center in Southeastern Brazil, as well as to analyze these patients' pretreatment clinical features. METHODS: Retrospective cohort of patients with lung or head and neck cancer assisted in a tertiary cancer center in southeastern Brazil between January/2019 and December/2021. To assess statistical differences among groups [i.e., cohort 2019 versus (vs.) 2020 and 2019 vs. 2021] chi-square test was used with a 5% significance level and 90% power for sample size calculation. Differences among baseline clinical features and sociodemographic characteristics were evaluated either by T-test for two samples or Fisher's or Pearson's chi-square test (for quantitative or qualitative variables). All utilized tests had a 5% significance level. RESULTS: Six hundred fifty-two patients were included, 332 with lung and 320 with head and neck cancer; it was observed a significant decrease in oncologic treatment recommendations and increase in palliative care recommendation for patients with lung cancer, despite similar stages at diagnosis. During the COVID-19 pandemic, more pain symptoms were reported at the first Oncology assessment for patients with head and neck cancer (p < 0.05). Compared to 2019, head and neck cancer patients diagnosed in 2021 presented a worse initial performance status (p = 0.008). There was a statistically significant increase in survival for patients diagnosed with head and neck cancer in 2021 when compared to 2019 (p = 0.003). CONCLUSIONS: This research highlights low survival rates for patients with lung and head and neck cancer in Brazil, even before the pandemic started, as consequence of advanced diseases at diagnosis at the public health system and clinical degrading features. Additionally, there was an increase incidence in both lung cancer and head and neck cancer despite no differences in clinical stage. This reflects how fragile is the public healthcare system even before facing an acute public health crisis such as the COVID-19 pandemic. Yet, the total impact on public health may follow for many years.

Cystic fibrosis: when neonatal screening is unsatisfactory for early diagnosis / Fibrose cística: quando a triagem neonatal é insatisfatória para o diagnóstico precoce

Abstract Introduction: cystic fibrosis newborn screening must enable its earlier diagnosis, which may enhance outcomes. This study was a series case of delayed-diagnosis children submitted to cystic fibrosis newborn screening. Description: fourteen children were included; eight (57.1%) were due to false-negative screening, while six (42.9%) were due to processing errors. Two samples collected after 30 days of life were incorrectly classified as negative, and four infants with a positive test could not be located due to screening processing errors. Cystic fibrosis diagnosis was confirmed at a median (IQR) age of 5.3 (4.2-7.4) months. Poor nutritional status was the most prevalent clinical sign at diagnosis, being present in 78.6% of infants. The mean (SD) weight-for-length and length-for-age Z-scores were -3.46 (0.84) and -3.99 (1.16), respectively. Half of the children had Pseudo-Bartter syndrome, and 42.9% had breathing difficulties. Twelve children (85.7%) required hospitalization, with a median (IQR) length of stay of 17.0 (11.5-26.5) days. Discussion: newborn screening had some faults, from incorrect collections to inefficient active search. Early identification of these children in which screening was unsatisfactory is essential, emphasizing the importance and efforts to not miss them. In the case of a failed test, healthcare professionals must be prepared to recognize the main symptoms and signs of the disease.

Resumo Introdução: a triagem neonatal para fibrose cística deve contribuir para diagnóstico precoce e melhor prognóstico da doença. O estudo é uma série de casos com lactentes submetidos à triagem, porém com diagnóstico tardio da doença. Descrição: quatorze crianças foram incluídas; oito (57,1%) com triagem falso-negativo e seis (42,9%) com erros processuais na triagem neonatal. Duas amostras foram coletadas tardiamente, sendo incorretamente classificadas como negativas e quatro lactentes com triagem positiva não foram localizados, por erros na busca ativa. Confirmou-se o diagnóstico da fibrose cística com idade mediana (IIQ) de 5,3 (4,2-7,4) meses. O Comprometimento nutricional precoce foi o sinal clínico mais prevalente ao diagnóstico, presente em 78,6% das crianças. Os Z escores médios (SD) do peso para altura e altura para idade foram -3,46 (0,84) e -3,99 (1,16), respectivamente. Metade das crianças teve síndrome de Pseudo-Bartter e 42,9% dificuldade respiratória. Doze crianças (85,7%) precisaram hospitalização com tempo mediano de permanência de 17 dias. Discussão: a triagem neonatal para fibrose cística apresentou falhas, desde testes falso-negativos, coletas incorretas, até problemas com a busca ativa. Entretanto, o diagnóstico ágil é essencial e os profissionais de saúde devem reconhecer os sintomas e sinais precoces da doença, mesmo quando a triagem neonatal não for satisfatória.

Undiagnosed Phenylketonuria Can Exist Everywhere: Results From an International Survey.

Many countries do not have a newborn screening (NBS) program, and immigrants from such countries are at risk for late diagnosis of phenylketonuria (PKU). In this international survey, 52 of 259 patients (20%) with late diagnosed PKU were immigrants, and 145 of the 259 (55%) were born before NBS or in a location without NBS.

Survey for caregivers of people in the autism spectrum in Chile: first concerns, age of diagnosis and clinical characteristics. / Encuesta para cuidadores de personas del espectro autista en Chile: Primeras preocupaciones, edad del diagnóstico y características clínicas.

INTRODUCTION: Autism Spectrum Disorders (ASD) are neurodevelopmental disorders of increasing prevalence. People with ASD have multiple health, education, and community needs, yet there is little information about their situation in Chile. OBJECTIVE: To learn about the demographic and clinical characteristics, caregiver's first concerns, and age of diagnosis of ASD individuals. PATIENTS AND METHOD: Participants were parents/caregivers of ASD persons, who answered the Caregiver Needs Survey, developed by Autism Speaks specifically for this purpose, and translated into Spanish. The survey is comprised of 4 sections: demographic information, characteristics of the ASD individual, past and present use of Health and Education Services, and parents/caregivers' perceptions of satisfaction, impact, stigma, and quality of life. Data from the first two sections are reported in this paper. RESULTS: The survey was answered by 291 caregivers (86% mothers) of 291 mostly male ASDs (89%), aged between 1-40 years (X: 10.4 SD: 6.1). The average age of parents' first concerns was 29.2m (SD: 23.8) where the main ones were: interaction difficulties (79.4%), unusual response to sensory stimuli (69.8%), behavioral problems (65.3%), unusual gestures/movements (64.3%), and lack of eye contact (63.6%). The ave rage age of diagnosis was 58m (SD: 36.5), with an average delay of diagnosis of 29m. The diagnosis was most frequently made by pediatric neurologists (44.7%), child psychiatrists (19.2%), and pedia tricians (5.5%). The most frequent comorbidities were language impairment, cognitive deficit, and behavioral problems. CONCLUSIONS: The late age of diagnosis of ASD and the large gap between the age of first concerns and diagnosis, represent a critical loss of treatment opportunities and jeopardize the chances of a better long-term outcome.

Spatial distribution of advanced stage diagnosis and mortality of breast cancer: Socioeconomic and health service offer inequalities in Brazil.

Breast cancer presents high incidence and mortality rates, being considered an important public health issue. Analyze the spatial distribution pattern of late stage diagnosis and mortality for breast cancer and its correlation with socioeconomic and health service offer-related population indicators. Ecological study, developed with 161 Intermediate Region of Urban Articulation (IRUA). Mortality data were collected from the Mortality Information System (MIS). Tumor staging data were extracted from the Hospital Cancer Registry (HCR). Socioeconomic variables were obtained from the Atlas of Human Development in Brazil; data on medical density and health services were collected from the National Registry of Health Institutions (NRHI) and Supplementary National Health Agency. Global Moran's Index and Local Indicator of Spatial Association (LISA) were utilized to verify the existence of territorial clusters. Multivariate analysis used models with global spatial effects. The proportion of late stage diagnosis of breast cancer was 39.7% (IC 39.4-40.0). The mean mortality rate for breast cancer, adjusted by the standard world population was 10.65 per 100,000 women (± 3.12). The proportion of late stage diagnosis presented positive spatial correlation with Gini's Index (p = 0.001) and negative with the density of gynecologist doctors (p = 0.009). The adjusted mortality rates presented a positive spatial correlation with the Human Development Index (p<0.001) and density of gynecologist doctors (p<0.001). Socioeconomic and health service offer-related inequalities of the Brazilian territory are determinants of the spatial pattern of breast cancer morbimortality in Brazil.

Multiple Emergency Department Visits for a Diagnosis of Kawasaki Disease: An Examination of Risk Factors and Outcomes.

OBJECTIVES: To determine predictors of >1 emergency department (ED) visit for a Kawasaki disease diagnosis in a quaternary care pediatric hospital and compare outcomes between patients with 1 vs >1 visit for Kawasaki disease diagnosis. STUDY DESIGN: Medical records of patients evaluated for Kawasaki disease between January 2006 and August 2018 at Boston Children's Hospital were abstracted for demographic and clinical data. Predictors of >1 visit were explored using logistic regression and classification and regression tree analysis. RESULTS: Of 530 patients diagnosed with Kawasaki disease, 117 (22%) required multiple ED visits for Kawasaki disease diagnosis. Multivariable regression and classification and regression tree analysis identified ≤2 Kawasaki disease criteria (OR 33.9; 95% CI 18.1-63.6), <3 days of fever at the first visit (OR 3.47; 95% CI 1.77-6.84), and non-White race (OR 2.15; 95% CI 1.18-3.95) as predictors of >1 visit. There were no significant differences in duration of hospitalization, day of illness at initial Kawasaki disease treatment, intravenous immunoglobulin resistance, need for adjunctive therapies, or coronary artery outcomes between patients diagnosed with Kawasaki disease at initial visit vs subsequent visits. CONCLUSIONS: Incomplete Kawasaki disease criteria, fewer days of fever, and non-White race were significant predictors of multiple ED visits for Kawasaki disease diagnosis in this single institution study. Our findings underscore the importance of maintaining a high index of suspicion for Kawasaki disease in patients with <4 Kawasaki disease criteria. Further research is needed to determine causes for increased healthcare use in non-White patients to receive a Kawasaki disease diagnosis.

Brief Report: Delayed Diagnosis of Treatable Inborn Errors of Metabolism in Children with Autism and Other Neurodevelopmental Disorders.

The objective of our study was to evaluate the frequency of treatable inborn errors of metabolism (IEM) in a clinical sample of Mexican children and adolescents with neurodevelopmental disorders (NDD). Amino acids and acylcarnitines in blood samples of 51 unrelated children and adolescents were analyzed by tandem mass spectrometry to detect treatable IEM of small molecules. One patient with isovaleric acidemia and autism spectrum disorder (ASD) and another with beta-ketothiolase deficiency and ASD/intellectual disability/attention-deficit/hyperactivity disorder (ADHD) were diagnosed, indicating an IEM frequency of 3.9% (1:26 subjects). The high frequency of treatable IEM indicates the need to perform a minimum metabolic screening as part of the diagnostic approach for patient with NDD, particularly when newborn screening programs are limited to a few disorders.

The Diagnostic Error Index: A Quality Improvement Initiative to Identify and Measure Diagnostic Errors.

OBJECTIVE: To develop a diagnostic error index (DEI) aimed at providing a practical method to identify and measure serious diagnostic errors. STUDY DESIGN: A quality improvement (QI) study at a quaternary pediatric medical center. Five well-defined domains identified cases of potential diagnostic errors. Identified cases underwent an adjudication process by a multidisciplinary QI team to determine if a diagnostic error occurred. Confirmed diagnostic errors were then aggregated on the DEI. The primary outcome measure was the number of monthly diagnostic errors. RESULTS: From January 2017 through June 2019, 105 cases of diagnostic error were identified. Morbidity and mortality conferences, institutional root cause analyses, and an abdominal pain trigger tool were the most frequent domains for detecting diagnostic errors. Appendicitis, fractures, and nonaccidental trauma were the 3 most common diagnoses that were missed or had delayed identification. CONCLUSIONS: A QI initiative successfully created a pragmatic approach to identify and measure diagnostic errors by utilizing a DEI. The DEI established a framework to help guide future initiatives to reduce diagnostic errors.

Improvement in time to treatment, but not time to diagnosis, in patients with mucopolysaccharidosis type I.

OBJECTIVE: Early diagnosis and treatment initiation are important factors for successful treatment of mucopolysaccharidosis type I (MPS I). The purpose of this observational study was to assess whether age at diagnosis and time to first treatment for individuals with MPS I have improved over the last 15 years. STUDY DESIGN: Data from the MPS I Registry (NCT00144794) for individuals with attenuated or severe disease who initiated therapy with laronidase enzyme replacement therapy (ERT) and/or hematopoietic stem cell transplantation (HSCT) between 1 January 2003 and 31 December 2017 were included. RESULTS: Data were available for 740 individuals with attenuated (n=291) or severe (n=424) MPS I (unknown n=25). Median age at diagnosis for attenuated disease did not change over time and ranged between 4.5 and 6 years of age while the median duration from diagnosis to first ERT decreased from 5.6 years before/during 2004 to 2.4 months in 2014-2017. For severe MPS I treated with HSCT, median age at diagnosis was less than 1 year and median time to first treatment was less than 3 months throughout the 15-year observation period. CONCLUSIONS: Times to diagnosis and HSCT initiation for individuals with severe MPS I were consistent over time. For individuals with attenuated MPS I, the time to ERT initiation after diagnosis has improved substantially in the last 15 years, but median age at diagnosis has not improved. Efforts to improve early diagnosis in attenuated MPS I are needed to ensure that patients receive appropriate treatment at the optimal time.

Delayed diagnosis of multiple sclerosis in a low prevalence country.

Background: Early diagnosis and treatment of multiple sclerosis (MS) is crucial to avoid future disability. The factors that influence diagnostic delay in low prevalence settings have been poorly studied.Objectives: To evaluate the factors associated with a delayed diagnosis of MS after the symptomatic onset.Methods: Clinical records of confirmed MS patients were reviewed. Diagnostic delay was calculated by subtracting the date of onset from the date of diagnosis and categorized as early and delayed, when below and above than 1 year. Logistic regression was performed to evaluate the likelihood of a delayed diagnosis according to age at first symptom, gender, type of the first symptom, progressive vs relapsing onset, diagnostic criteria prevailing at the time of symptom onset, comorbidities, and family history of MS.Results: Data of 525 (95.6%) from a cohort of 549 patients were analyzed. About 69.1% were women. The mean age was 43.2 years. About 86.3% had relapsing-remitting MS. The mean overall diagnostic delay was 3.07 years. About 45.7% of the patients had a delayed diagnosis, and it was dependent on the symptom and the diagnostic criteria prevailing at the onset. Multivariate logistic regression showed onset during the Schumacher (OR = 10.03 [95%CI 1.30-77.1], p = 0.027) and Poser (OR = 4.26 [95%CI 1.25-15.15], p = 0.021) years were associated with delayed MS diagnosis.Conclusions: MS onset before the McDonald diagnostic criteria era is associated with delayed diagnosis.

Diagnostic accuracy of ADA 2020 criteria for undiagnosed diabetes in a Peruvian population.

AIMS: To assess the prevalence of undiagnosed diabetes (UDD) and the diagnostic accuracy of the American Diabetes Association (ADA) criteria to detect UDD cases in a Peruvian population. METHODS: Population-based cross-sectional study. UDD was defined using fasting plasma glucose (FPG), 2-hour post-prandial plasma glucose (2 h-PPG), and glycated hemoglobin (HbA1c) traditional cut-offs. Diagnostic accuracy was estimated using areas under the receiver-operating characteristic (ROC) curve, compared with the combination of oral glucose tolerance test (FPG plus 2 h-PPG) plus HbA1c as gold standard. RESULTS: 1609 subjects were evaluated; mean age 48.2 (SD: 10.6) years, 50.3% were women. A total of 179 (11.3%) subjects were classified as having diabetes, 41.3% of them had UDD. Area under the curve for FPG, 2 h-PPG and HbA1c was 86.5% (95% CI: 81.4-91.6%); 87.2% (95% CI: 82.2-92.2%) and 80.4% (95% CI: 74.8-86.0%), respectively. FPG sensitivity was 73.0%, whereas this value was 74.3% for 2 h-PPG and 60.8% for HbA1c. Of 74 UDD cases, 45 were positive for HbA1c, 54 for FPG and 55 for 2 h-PPG. CONCLUSIONS: 41.3% of people with diabetes do not know their diagnosis. Diagnostic accuracy of FPG and 2 h-PPG was higher than HbA1c. The most sensitive combination of two tests to detect UDD cases was FPG plus 2 h-PPG.

Importancia de la detección temprana de hemoglobinopatias en la población pediátrica en países en desarrollo / Importance of early detection of hemoglobinopathies in the pediatric population in developing countries

OBJETIVO: Alertar al personal de la salud sobre la importancia de la detección temprana de las he- moglobinopatías, dado que es el trastorno monogénico recesivo más frecuente. Pacientes y MÉTODO: Estudio retrospectivo del resultado de eletroforesis capilar (CE) de 152 pacientes entre 0 y 18 años que durante el año 2017 fueron evaluados por sospecha de hemoglobinopatías en un Hospital Universitario de Colombia. La información se tomó de los registros médicos y del Laboratorio de Hematología y Hemostasia, asegurando la privacidad de los datos y aprobado por el Comité de Ética local. RESULTADOS: De 152 pacientes, 48,6% tenía entre 7 y 18 años. La frecuencia de hemoglobinopatías fue de 42,7%. La variante más frecuente fue el rasgo de células falciformes (Hb S) con 14,5%. El hematólogo fue el profesional que más frecuentemente solicitó EC. DISCUSIÓN: Se detectó que las hemoglobinopatías se diagnostican usualmente en niños mayores de siete años. Esto puede favorecer las complicaciones y progresión de la enfermedad, y aumento en los costos de la salud. Se requiere más información y educación a los médicos generales y pediatras para un diagnóstico más temprano.

OBJECTIVE: The objective of this study is to spread awareness among health personnel about the importance of early detection of hemoglobinopathies since it is the most frequent monogenic recessive disorder worldwide. PATIENTS AND METHOD: Retrospective study of the results of capillary electropho resis (CE) of 152 patients aged between 0 and 18 years who were evaluated in 2017 due to suspected hemoglobinopathies in a University Hospital in Colombia. The information was collected from me dical records and the Hematology and Hemostasis Laboratory, ensuring data privacy and approved by the local Ethics Committee. RESULTS: Of 152 patients, 48.6% were aged between 7 and 18. The frequency of hemoglobinopathies was 42.7%. The most frequent hemoglobin variant was the sickle cell trait (Hb S) with 14.5%. The hematologist was the professional who most frequently requested CE. DISCUSSION: We found that hemoglobinopathies are usually diagnosed late in pediatric patients. This may favor complications and progression of the disease and increase healthcare costs. More information and education are required for general physicians and pediatricians in order to achieve early diagnosis.

The Role of Time as a Prognostic Factor in Pediatric Brain Tumors: a Multivariate Survival Analysis.

There is no evidence that prolonged pre diagnostic symptomatic intervals (PSI) increases the risk of death in pediatric brain tumors. When investigating the role of time previous research had not controlled for confounding variables or measured the pretreatment interval (PTI). We use the term global delay interval (GDI) to describe the sum of PSI and PTI. The aim of this research was to evaluate whether there was a decrease in the probability of survival in children with brain tumors due to a prolonged PSI, PTI and GDI, using a multivariate survival analysis. We retrospective review 127 clinical records labeled with the diagnosis of CNS tumors attended at a specialized pediatric center in Mexico City from January 2008 to December 2012. Patients with PSI and GDI diagnosed between 3 and 6 months showed statistical lower probability of surviving that those with intervals <3 months even when adjusting for age, sex, localization and tumor grade. When stratified for the place of residency and adjusted for sex, age, localization, grade of tumor, type of surgery and coadjuvant therapy, a GDI between 3 and 6 months showed to be a risk factor for the overall survival of brain tumors compared with an interval < 3 months. When analyzing the interaction, high grade tumors are at more risk of dying when GDI was between 3 and 6 months compared to <3 months. Prolonged PSI and GDI showed to be a potential prognostic factor for survival in CNS tumors, especially in high grade tumors. Future prospective research should measure the PSI, PTI and GDI and adjust for covariates in order to properly infer the effect of time in pediatric brain tumors.

Testicular Cancer Incidence and Mortality in New Mexico.

Objective: To examine incidence and survival of testicular cancer in New Mexico, overall and separately for border and non-border counties. Methods: Incidence and 5-year survival rates for testicular cancer were obtained from the SEER18 database using the SEER*Stat program following established NCI protocols. Incidence data were compared using Student's t-test. Age-adjusted 5-year survival and Kaplan-Meier method were used to estimate survival. Log-rank tests were used to compare survival for New Mexico to the remaining17 geographical areas of the SEER 18 and for the New Mexico border counties to the New Mexico non-border counties. Odds ratios were used to compare testicular stage at diagnosis. Cox proportional hazards regression was performed to account for race/ethnicity, and border status. Results: From 2000-2015, New Mexico had a testicular cancer incidence rate of 6.3 per 100,000 people, significantly higher than SEER18 (P<.001). The 5-year survival rate in New Mexico did not differ significantly from the SEER18 (P=.3). Border Hispanics had a lower survival rate than border non-Hispanic populations (P=.03). From 2000-2018, New Mexico had a significantly higher proportion of distant cancers than the SEER18 (OR: 1.29, 95% CI: 1.08 to 1.53, P=.005). Conclusions: The higher incidence of testicular cancer in New Mexico does not appear to have a clear explanation based on the current understanding of risk factors; however, the increased incidence in New Mexico does not appear to be associated with increased mortality. The higher proportion of advanced testicular cancers in New Mexico may represent a delay in diagnosis. The increased mortality rate seen in Hispanic border populations may be due in part to barriers to care.

Availability of Diagnostic Services and their Impact on Patient Flow in Two Brazilian Referral Centres of Breast Cancer Treatment.

BACKGROUND: System delay (SD) is a leading cause of advanced stage of disease and poor prognosis among Brazilian breast cancer patients. METHODS: Cox regression and Kaplan-Meier analysis were used to identify variables that contributed to SD among 128 breast cancer patients. Time intervals between first medical consultation and treatment initiation were compared among patients of two referral centres: Patients of a referral centre with outsourced (FAP), respectively, integrated (HNL) diagnostic services. RESULTS: Women who used a specialized private clinic at the beginning of patient flow had an 2.32 fold increased chance (95% CI: 1.17 - 4.60; p = 0.016) of hospital admission within 90 days after first medical consultation, compared to women who used a public health care provider (HCP). Of 73 and 34 patients of the FAP hospital and the HNL, respectively, 10 (13.7%) and 11 (32.5%) used one HCP prior to hospital admission (p = 0.000). The median time between first medical consultation and treatment initiation was 150 days. The median time between first medical consultation and hospital admission was 136.0 and 52.0 days for patients of the FAP hospital, respectively the HNL (p < 0.050). The median time between first medical consultation and diagnostic mammography was 36.5 and 23.0 days for patients from the FAP hospital and the HNL (p < 0.050). CONCLUSIONS: Usage of public diagnostic services was associated with increased SD, whereas the usage of private diagnostic services diminished it. The usage of a lower number of HCPs accelerated patient flow.

Prevalencia de diabetes y descontrol glucémico en México: resultados de la Ensanut 2016 / Prevalence of diabetes and poor glycemic control in Mexico: results from Ensanut 2016

Resumen: Objetivo: Estimar la prevalencia de diabetes (total, diagnosticada y no diagnosticada), de descontrol glucémico en México y sus factores asociados. Material y métodos: Se analizaron 3 700 adultos participantes en la Encuesta Nacional de Salud y Nutrición de 2016. Se estimaron las prevalencias con ponderadores poblacionales y los factores asociados con diabetes total y descontrol glucémico con modelos de regresión de Poisson. Resultados: La prevalencia total de diabetes fue de 13.7% (9.5% diagnosticada, 4.1% no diagnosticada); 68.2% de los diagnosticados presentó descontrol glucémico. Mayor tiempo de diagnóstico, vivir en el centro/sur del país y ser atendido en farmacias se asoció con descontrol glucémico, mientras que ser atendido en los servicios de seguridad social se asoció con mejor control glucémico. Conclusión: Se requieren esfuerzos multisectoriales para fortalecer el tamizaje, diagnóstico oportuno y control de la enfermedad, considerando las diferencias por región y tipo de servicio de salud.

Abstract: Objective: To estimate the prevalence of total, diagnosed and undiagnosed diabetes, and the prevalence of poor glycemic control in Mexico, and its associated factors. Materials and methods: Data from 3 700 adult participants were analysed in the 2016 National Health and Nutrition Survey. Diabetes prevalences were estimated with population weights, and the factors associated with total diabetes and poor glycemic control with Poisson regression models. Results: The total prevalence of diabetes was 13.7% (9.5% diagnosed, 4.1% undiagnosed); 68.2% of people with diagnosed diabetes presented poor glycemic control. Longer disease duration, living in the centre or south of the country and being treated in pharmacies were associated with poor glycemic control. Being treated in a social security system was associated with better glycemic control. Conclusion: Multisectoral efforts are needed to strengthen screening, timely diagnosis and disease control, considering differences by region and type of health service.

Comparison of lupus patients with early and late onset nephritis: a study in 71 patients from a single referral center.

BACKGROUND: Nephritis occurs frequently in systemic lupus erythematosus (SLE) and may worsen disease morbidity and mortality. Knowing all characteristics of this manifestation helps to a prompt recognition and treatment. AIM: To compare the differences in clinical data, serological profile and treatment response of nephritis of early and late onset. METHODS: Retrospective study of 71 SLE patients with biopsy proven nephritis divided in early nephritis group (diagnosis of nephritis in the first 5 years of the disease) and late nephritis (diagnosis of nephritis after 5 years). Epidemiological, serological, clinical and treatment data were collected from charts and compared. RESULTS: In this sample, 70. 4% had early onset nephritis and 29.6% had late onset. No differences were noted in epidemiological, clinical, serological profile, SLICC and SLEDAI, except that late onset nephritis patients were older at nephritis diagnosis (p = 0.01). Regarding renal biopsy classification, C3 and C4 levels, serum creatinine, 24 h proteinuria and response rate to treatment the two groups were similar (p = NS). Patients with early onset had lower levels of hemoglobin at nephritis onset than those of late onset (p = 0.02). CONCLUSIONS: Most of SLE patients had nephritis in the first 5 years of disease. No major differences were noted when disease profile or treatment outcome of early and late onset nephritis were compared.