Missed opportunities in the prevention and diagnosis of pediatric tuberculosis: a scoping review.

OBJECTIVES: Identify potential barriers, delays, and missed opportunities in the prevention and diagnosis of childhood TB. METHODS: Scoping review according to the PRISMA extension. The definitions considered for the selection followed the acronym PCC where the population (P) is children under 18 years of age with TB disease, the concept (C) refers to missed opportunities for prevention and diagnosis, and context (C) is defined as a diagnosis of TB disease. The authors searched systematically in the databases; VHL/Lilacs, Medline via PubMed, Cochrane, Scopus, and Web of Science, without date or language limitation. RESULTS: Seven studies were included. In developed countries, with low disease burden, the main shortcoming is the delay in diagnosing bacilliferous adults in contact with young children. This problem is concentrated in the portion of the population with socioeconomic vulnerability. In underdeveloped countries, with a high burden of disease, the biggest challenge is tracking children who come into contact with bacilliferous patients. CONCLUSIONS: There are still many missed opportunities in the prevention and diagnosis of childhood TB. The positive legacy of the COVID-19 pandemic should be taken advantage of and the encouragement of scientific development in the management of infectious diseases should be taken.

Reducing delayed detection of isolated cleft palate-related deformity: a call for routine intraoral examination of newborns.

OBJECTIVE: To provide healthcare professional-friendly practical recommendations for early detection of cleft palate-related deformities in newborns and offer an overview of managing these high-prevalent congenital abnormalities. SOURCE OF DATA: PubMed, SciELO, Lilacs, Cochrane, ScienceDirect, and Scopus databases were reviewed for cleft- and diagnosis-related studies. SUMMARY OF THE FINDINGS: Unfortunately, the global prevalence of delayed detection of cleft palate-related deformities remains unacceptably high, with over a quarter of cleft palates missed at birth. This delayed identification causes physical and psychological distress for patients and families, including feeding challenges and weight faltering. To improve cleft management, it is essential to adopt routine detailed, in-depth intraoral examination immediately after birth. It is recommended not only to finger-assisted palpate the intraoral structures but also to visually inspect the oral cavity from gingiva to uvula using a wooden tongue depressor and light-assisted examination. With timely diagnosis and referral to specialized care, pediatricians, nurses, speech therapists, and plastic surgeons provide life-changing treatments, including health care maintenance, anticipatory guidance, feeding support, primary surgical reconstruction, and age- and condition-specific protocols. CONCLUSIONS: Encouraging neonatologists and pediatricians, who are the first to examine newborns, to actively investigate the intraoral region for cleft palate-related deformities is instrumental in optimizing therapeutic approaches and prioritizing age-phases in treatment. Their crucial role in early detection and referral can lead to transformative outcomes, impacting not only the future of the newborns by facilitating functional integration into society but also yielding positive effects on families and the health system.

Mortalidad por COVID-19 y diagnóstico tardío en las primeras etapas de la pandemia en Bolívar-Colombia / Mortality from COVID-19 and late diagnosis in the early stages of the pandemic in Bolívar-Colombia

Introducción: Los pacientes fallecidos por COVID-19 al inicio de la pandemia evidencian características clínico-epidemiológicas particulares y su identificación, lo mismo que los aspectos asociados a su diagnóstico son fundamentales para la implementación de estrategias en salud pública que permitan la protección sanitaria de los grupos más vulnerables. Objetivo: Determinar las características clínico epidemiológicas de los pacientes fallecidos por COVID-19 y su asociación con el diagnóstico tardío en las primeras etapas de la pandemia en el departamento de Bolívar-Colombia. Materiales y Métodos: Estudio descriptivo de corte transversal con una muestra de 51 pacientes fallecidos por COVID-19; se calculó la frecuencia relativa de los factores de riesgo clínico epidemiológicos de estos pacientes y se realizó un análisis bivariado para evidenciar la asociación con la posibilidad de ser diagnosticado después de la muerte, usando la razón de disparidad (OR) con su intervalo de confianza Resultados: El 47,2 por ciento de los diagnósticos se hicieron después de la muerte; el promedio entre el inicio de los síntomas y la muerte fue aproximadamente 13 días, en los que se evidencia como comorbilidades importantes las enfermedades cardíacas (58,5 por ciento) y la hipertensión (35,8 por ciento). La asociación con el diagnóstico después de la muerte se relaciona con los casos notificados en abril y mayo (p=0,03), ser mayor de 80 años (p=0,03) y tener malnutrición (p=0,04). Conclusión: En el contexto del departamento de Bolívar se observan fallas en el diagnóstico oportuno de algunos grupos poblacionales vulnerables y a los pacientes con enfermedades cardíacas se debe prestar atención para evitar la alta mortalidad(AU)

Introduction: Patients who died from COVID-19 at the beginning of the pandemic show particular clinical-epidemiological characteristics and their identification as well as the aspects associated with the diagnosis are fundamental for the implementation of public health strategies that allow the sanitary protection of the most vulnerable groups. Objective: To determine the clinical-epidemiological characteristics of patients who died from COVID-19 and its association with late diagnosis in the early stages of the pandemic in the department of Bolívar-Colombia. Material and Methods: Descriptive cross-sectional study with a sample of 51 patients who died from COVID-19; the relative frequency of the clinical-epidemiological risk factors of these patients was calculated and a bivariate analysis was performed to show the association with the possibility of being diagnosed after death, using the disparity ratio (OR) with its confidence interval. Results: The 47,2 percent of the diagnoses were made after death; the average between the onset of symptoms and death was approximately 13 days, in which heart disease (58,5 percent) and hypertension (35,8 percent) were evidenced as important comorbidities. The association with diagnosis after death is related to the cases reported in April and May (p = 0.03), being older than 80 years (p = 0.03) and having malnutrition (p = 0.04). Conclusion: In the context of the department of Bolívar, failures are observed in the timely diagnosis of some vulnerable population groups, thus special attention should be paid to patients with heart disease to avoid high mortality(AU)

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.

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.

Hypertrophic cardiomyopathy masked by pericarditis

Hypertrophic cardiomyopathy used to be regarded as a rare untreatable cause of sudden death in young male athletes. This report is the case of a middle-aged female patient with hereditary hypertrophic cardiomyopathy masked by superimposed pericarditis and revealed by autopsy. This case report illustrates how co-morbidity can hide a crucial diagnosis. This case report also illustrates the value of autopsy disclosing a familial disease that is increasingly recognized and dramatically more treatable than a few decades ago. Sudden death due to hypertrophic cardiomyopathy has become preventable, if the diagnosis is made soon enough. The lessons for patient care from this case include the importance of not missing the diagnosis of hypertrophic cardiomyopathy in female patients.

Seguridad del tratamiento con Surfacen® en recién nacidos pretérminos con síndrome de dificultad respiratoria / Safety of the treatment with Surfacen® in preterm newborns with syndrome of respiratory difficulty

Introducción: Varias han sido las publicaciones sobre Surfacen®, pero ninguna ha comparado la seguridad del producto entre su uso temprano y tardío. Objetivo: Comprobar las características de los eventos adversos en ambas formas de administración del producto. Métodos: Se realizó un estudio analítico observacional, no controlado, multicentro, nacional, desde 2007 al 2013. La muestra fue de 484 recién nacidos en los que se comprobaron los eventos adversos ocurridos por Surfacen® administrado de manera temprana y tardía. Las variables estudiadas fueron de caracterización general y de caracterización de los eventos adversos. Resultados: El grupo al que se le administró el surfactante de manera tardía tuvo mayor incidencia de eventos adversos que los tratados de manera temprana (277 vs 268). El porcentaje de pacientes con estos eventos fue mayor en los tratados de manera tardía (63,7 vs 41,3 por ciento). El rescate tardío tuvo 2,5 veces más riesgo de presentar la hemorragia peri- e intraventricular (10,4 vs 4,0 por ciento), mayor riesgo de presentar las diferentes formas de bloqueo aéreo, tres veces más riesgo de displasia broncopulmonar (8,8 vs 2,6 por ciento) y 6 veces más riesgo de presentar desaturación de oxígeno, que el rescate temprano. Conclusiones: El tratamiento con Surfacen®, tanto en su forma de rescate temprano como tardío presenta los mismos eventos adversos que otros surfactantes utilizados y el tratamiento de rescate temprano tiene menos riesgo de presentar eventos adversos como son la hemorragia intraventricular, el bloqueo aéreo, displasia broncopulmonar y desaturación de oxígeno, por lo que su administración es segura(AU)

Introduction: There have been several publications on SURFACEN®, but none has compared the safety of this product in the early and late uses of it. Objective: To check the characteristics of adverse events in both ways of administering the product. Methods: It was carried out an analytic, observational, non- controlled, national multicentric study from 2007 to 2013. The sample consisted of 484 newborns in whom were checked the adverse events occurred in the early and late ways by administered SURFACEN®. The studied variables were of general characterization and of characterization of the adverse events. Results: The group to which the surfactant was administered in a late way had more incidences of adverse events than the ones treated earlier (277 vs 268). The percentage of patients with these events was higher in the ones treated in a late way (63.7 vs 41.3 percent). The late rescue had 2.5 times more risk of presenting peri- and intra-ventricular hemorrhage (10.4 vs 4.0 percent), higher risk of presenting the different forms of air block, three times more risk of bronchopulmonary dysplasia (8.8 vs 2.6 percent), and six times more risk of presenting oxygen desaturation. Conclusions: As much in the way of early rescue as in the late one, the treatment with SURFACEN® presents the same adverse events that other used surfactants; and the early rescue's treatment has less risk of presenting adverse events or intraventricular hemorrhage, air block, bronchopulmonary dysplasia and oxygen desaturation, that is why its administration is safe(AU)

[Evaluation of tuberculosis control actions in a large Brazilian municipality]. / Avaliação de ações de controle da tuberculose em um município brasileiro de grande porte.

OBJECTIVE: To evaluate tuberculosis control actions in one large Brazilian municipality. MATERIALS AND METHODS: Quantitative, cross-sectional study, with a population (N=137) of patients with tuberculosis notified in the Sistema de Informação de Agravos e Notificação (Brazilian Case Registry Database). The final sample (n = 75) was obtained based on inclusion and exclusion criteria. The studied variables were: "health center in charge of diagnosing tuberculosis", "time elapsed since the onset of signs and symptoms until diagnosis of tuberculosis", "health center in charge of providing treatment of tuberculosis" and "type of tuberculosis treatment". Data were collected between March and July of 2015, and were obtained from structured interviews and analyzed through descriptive and analytic statistics by Chi square test method, using the R software. CONCLUSION: The study identified that tuberculosis control actions are focused on specialized services and the private network, which contributes to a late diagnosis, and hinder the interruption of disease transmission. Self-administered treatment was also observed, modality that favors the antagonistic outcome of the treatment.

Optimal Timing of Repeat Newborn Screening for Congenital Hypothyroidism in Preterm Infants to Detect Delayed Thyroid-Stimulating Hormone Elevation.

OBJECTIVES: To evaluate the timing of a delayed rise in thyroid-stimulating hormone (TSH) levels in preterm infants with congenital hypothyroidism, and to determine whether cases of congenital hypothyroidism would be missed by using current consensus guidelines of repeat screening at approximately 2 weeks of age or 2 weeks after the first screening. STUDY DESIGN: The study was performed over a 13-year period (January 2004-December 2016). Whole-blood TSH samples were collected between 72 and 120 hours after birth. Repeat samples were collected weekly in preterm infants until the infant was term-corrected (37 weeks' gestation). Patients were followed up to determine whether congenital hypothyroidism was permanent or transient. RESULTS: Twenty-seven (50.9%) preterm infants born at <33 weeks of gestation who were diagnosed with congenital hypothyroidism had delayed TSH elevation and would not have been detected on first newborn screen. Twelve of these infants (40.7%) with delayed TSH elevation had decompensated hypothyroidism at diagnosis (free thyroxine [FT4] <10 pmol/L), and 4 had severe congenital hypothyroidism (FT4 <5.5 pmol/L) at diagnosis. If screening had been repeated only at 2 weeks of life, 13 infants (48%) with delayed TSH elevation would not have been identified. Of the 27 infants with delayed TSH elevation, 6 (22%) have permanent congenital hypothyroidism, and another 12 will be reevaluated at age 3 years. CONCLUSION: Repeat screening for congenital hypothyroidism in preterm infants is necessary to avoid missing cases of congenital hypothyroidism with delayed TSH elevation. Repeat screening once at 2 weeks of life will miss infants with delayed TSH elevation and decompensated permanent congenital hypothyroidism.

Factores que influyen en la demora diagnóstica de la neoplasia de pulmón en egresados vivos / Factors that influence the diagnostic delay of lung neoplasia in patients discharged alive

Introducción: el cáncer de pulmón es el tumor maligno más frecuente en el mundo, en Cuba es la segunda causa de muerte, su pronóstico depende de diferentes factores entre ellos el intervalo entre el primer síntoma y el inicio del tratamiento. Objetivo: determinar los factores que influyen en la demora en el diagnóstico de los pacientes con neoplasia de pulmón. Métodos: se realizó un estudio descriptivo, retrospectivo y longitudinal de los pacientes egresados vivos con diagnóstico de neoplasia de pulmón en el Hospital Militar Dr. Carlos J. Finlay en el período comprendido entre enero 2016 a enero 2017. Resultados: la neoplasia de pulmón fue más frecuente en mayores de 50 años, del sexo masculino y con estrecha relación con el hábito de fumar, la falta de aire fue el principal síntoma por el que acudieron los pacientes después de un mes de inicio de la sintomatología. La estadía hospitalaria fue superior a los 20 días y se realizó el diagnóstico histológico en pocos pacientes. Conclusiones: la demora en el diagnóstico de la neoplasia de pulmón influye en su supervivencia, pues no se les puede realizar un tratamiento oncoespecífico(AU)

Introduction: lung cancer is the most frequent malignant tumor in the world, in Cuba it is the second cause of death, its prognosis depends on different factors including the interval between the first symptom and the start of treatment. Objective: to determine the factors that influence the delay in the diagnosis of patients with lung neoplasia. Methods: a descriptive, retrospective and longitudinal study of live patients with diagnosis of lung neoplasm was performed at the Military Hospital Dr. Carlos J. Finlay in the period from January 2016 to January 2017. Results: lung neoplasia was more frequent in men over 50 years of age, and with a close relationship with smoking, lack of air was the main symptom for which patients came after a month of onset of smoking symptomatology. The hospital stay was longer than 20 days and the histological diagnosis was made in a few patients. Conclusions: the delay in the diagnosis of lung neoplasia influences their survival, since they cannot be treated onco-specific(AU)

Straight to the Operating Room: An Emergent Surgery Track for Acute Testicular Torsion Transfers.

OBJECTIVE: To assess the effect of implementing an emergency surgery track for testicular torsion transfers. We hypothesized that transferring children from other facilities diagnosed with torsion straight to the operating room (STOR) would decrease ischemia time, lower costs, and reduce testicular loss. STUDY DESIGN: Demographics, arrival to incision time, hospital cost in dollars, and testicular outcome (determined by testicular ultrasound) at follow-up were retrospectively compared in all patients transferred to our tertiary care children's hospital with a diagnosis of testicular torsion from 2012 to 2016. Clinical data for STOR and non-STOR patients were compared by Wilcoxon rank-sum, 2-tailed t test, or Fisher exact test as appropriate. RESULTS: Sixty-eight patients met inclusion criteria: 35 STOR and 33 non-STOR. Children taken STOR had a shorter median arrival to incision time (STOR: 54 minutes vs non-STOR: 94 minutes, P < .0001) and lower median total hospital costs (STOR: $3882 vs non-STOR: $4419, P < .0001). However, only 46.8% of STOR patients and 48.4% of non-STOR patients achieved surgery within 6 hours of symptom onset. Testicular salvage rates in STOR and non-STOR patients were not significantly different (STOR: 68.4% vs non-STOR: 36.8%, P = .1), but follow-up was poor. CONCLUSIONS: STOR decreased arrival to incision time and hospital cost but did not affect testicular loss. The bulk of ischemia time in torsion transfers occurred before arrival at our tertiary care center. Further interventions addressing delays in diagnosis and transfer are needed to truly improve testicular salvage rates in these patients.

Gelatinous transformation of bone marrow: rare or underdiagnosed?

Gelatinous transformation of the bone marrow (GTBM) is a rare hematologic entity, which was first described by Paul Michael in 1930. GTBM is mostly associated with caloric intake/anorexia nervosa, although it also has been described accompanying other pathologic conditions, such as malignancy, systemic lupus erythematosus and HIV infections. Even though the diagnostic features of the hematopoietic tissue, such as hypoplasia, adipose cell atrophy, and deposition of a gelatinous substance in the bone marrow (which stains with Alcian blue at pH 2.5) are quite specific, the underlying pathogenic mechanisms remain poorly understood. Considering the evidence of reversibility­notably in cases of malnutrition and anorexia­this entity should be kept high on cards as a possible differential diagnosis of patients presenting with cytopenias and associated weight loss or starvation, especially in developing countries with nutritionally deprived populations. On an extensive review of the literature aimed at comprehensively addressing the evolution of the GTBM from the past century until now, we conclude that the lack of clinical suspicion and awareness regarding this pathologic entity has led to misdiagnosis and delayed diagnosis.

Diagnostic Value of Early Magnetic Resonance Imaging After Acute Lateral Ankle Injury.

We report a retrospective study of 171 consecutive patients with a lateral ankle sprain. All the patients with direct or blunt force trauma were excluded. Within 21 days of injury, 115 (67.25%) patients had undergone magnetic resonance imaging to evaluate for more serious or significant injuries. The average patient age was 44.09 years. Of the 115 patients, 75 (65.23%) had findings noted to be "significant." MRI can serve as a valuable and underused tool in the evaluation of acute lateral ankle injuries. The underuse of MRI might explain the high degree of variability in patients recovering from a lateral ankle sprain.

Phosphaturic mesenchymal tumor (PMT): exceptionally rare disease, yet crucial not to miss

Phosphaturic mesenchymal tumors (PMTs) are very rare tumors which are frequently associated with Tumor Induced Osteomalacia (TIO), a paraneoplastic syndrome that manifests as renal phosphate wasting. The tumor cells produce a peptide hormone-like substance known as fibroblast growth factor 23 (FGF23), a physiologic regulator of phosphate levels. FGF23 decreases proximal tubule reabsorption of phosphates and inhibits 1-α-hydroxylase, which reduces levels of 1-α, 25-dihydroxyvitamine D3. Thus, overexpression of FGF23 by the tumor cells leads to increased excretion of phosphate in the urine, mobilization of calcium and phosphate from bones, and the reduction of osteoblastic activity, ultimately resulting in widespread osteomalacia. Patients typically present with gradual muscular weakness and diffuse bone pain from pathologic fractures. The diagnosis is often delayed due to the non-specific nature of the symptoms and lack of clinical suspicion. While serum phosphorus and FGF23 testing can assist in making a clinical diagnosis of PMT, the responsible tumor is often difficult to locate. The pathologic diagnosis is often missed due to the rarity of PMTs and histologic overlap with other mesenchymal neoplasms. While patients can experience severe disabilities without treatment, excision is typically curative and results in a dramatic reversal of symptoms. Histologically, PMT has a variable appearance and can resemble other low grade mesenchymal tumors. Even though very few cases of PMT have been reported in the world literature, it is very important to consider this diagnosis in all patients with hypophosphatemic osteomalacia. Here we present a patient who suffered for almost 5 years without a diagnosis. Ultimately, the PMT was located on a 68Ga-DOTA TATE PET/CT scan and subsequently confirmed by histologic and immunohistologic study. Interestingly, strong positivity for FGFR1 by IHC might be related to the recently described FN1-FGFR1 fusion. Upon surgical removal, the patient's phosphate and FGF23 levels returned to normal and the patient's symptoms resolved.

Implementing a screening program for acromegaly in Latin America: necessity versus feasibility.

INTRODUCTION: Acromegaly is a rare disease with a large burden due its associated comorbidities and the life-long management required. Since the occurrence and severity of associated complications are related to length of exposure to the excess growth hormone seen in acromegaly, early diagnosis is imperative. The delay in diagnosis, however, can be long, and may be the result of a lack of disease awareness and screening programs. Since acromegaly is an uncommon disease, finding ways to increase recognition and diagnosis that would permit early detection in a logical and cost-effective manner could be a challenge. METHODS: We conducted a retrospective literature review for information relating to the screening and diagnosis of acromegaly using PubMed. The aim was to assess whether an acromegaly-screening program in Latin America (and elsewhere) would be both of use and be feasible. FINDINGS AND CONCLUSIONS: An earlier diagnosis allows earlier initiation of treatment, such as surgery and/or drugs, which leads to more successful disease management (biochemical control) and better outcomes. Since the delay in diagnosis can be long, we believe that clear opportunities exist for earlier (and increased) detection of acromegaly. This can be achieved by increasing disease awareness for earlier recognition of symptoms and by using targeted screening (rather than mass screening) programs.

Psychogenic nonepileptic seizures: should we use response to AEDS as a red flag for the diagnosis?

PURPOSE: Lack of response to anti-epileptic drugs (AEDS) is considered a "red flag" pointing to a diagnosis of Psychogenic Nonepileptic Seizures (PNES). On the other hand, placebo effects are relevant in any medical condition with a complex psychosocial component. We aimed to evaluate the presence and frequency of a placebo response in patients with sole PNES and explore its impact on diagnostic delay. METHODS: We reviewed the medical records of 102 patients referred for video EEG monitoring and diagnosed with PNES. Patients with PNES and epilepsy were excluded. The response to AEDs was analyzed according to patients' reports and medical records. Patients were classified, according to the response to AEDs, in two groups: responders (patients achieving remission) and non-responders. Then, we compared the diagnostic delay from the first event to the final diagnosis between these groups. RESULTS: Forty-seven patients (79.7%) with sole PNES who were using AEDs were identified. Twenty-two patients (46.8%) had reported complete or partial remission of PNES with mean response duration of 7.2 months (SD+9.6 months). The time delay of the diagnosis in the AED responder group was 10.6 years; the delay in non-responders was 5.6 years (p=0.035). CONCLUSION: Patients with sole PNES receiving AEDs can go into PNES remission. A favorable response to AEDs is likely to be interpreted as supporting a diagnosis of epilepsy and is associated with diagnostic delay. Physicians should bear in mind that patients with PNES may be particularly vulnerable to placebo effects.

Takayasu arteritis in a Brazilian multicenter study: children with a longer diagnosis delay than adolescents.

OBJECTIVES: To evaluate and compare demographic, clinical, laboratory and angiographic data of Brazilian children and adolescents with Takayasu's arteritis. METHODS: In this Brazilian multicentre, retrospective study which included 10 paediatric rheumatology centres, we identified 71 children and adolescents with Takayasu's arteritis which were diagnosed before their 19th birthday. The patients' demographic, clinical, laboratorial and angiographic data were recorded. The participants were divided into two groups: children, defined by the WHO as younger than 10 years old (group 1: 36 patients) and adolescents, defined as individuals aged 10 to 19 years old (group 2: 35 patients). Features of both groups concerning disease manifestations were compared. RESULTS: A total of 21 (58.3%) patients in group 1 and 30 (85.7%) patients in group 2 were girls (p=0.01). The mean age at disease onset, the mean time to diagnosis, and the mean follow-up time were 5.7 and 12.7, 1.8 and 0.7, 7.2 and 3.6 years, respectively, in groups 1 and 2 (p<0.001, 0.001 and <0.001). At initial evaluation, constitutional symptoms (77.5%) were the most predominant symptoms and decreased peripheral pulses (85.9%) was the most predominant clinical sign without differences between groups. The main laboratory findings were increased erythrocyte sedimentation rate followed by leukocytosis. Anaemia, thrombocytosis and higher platelet levels were significantly more frequent in group 1 (p=0.031, 0.001 and 0.018). Angiographic data were similar in both groups. CONCLUSIONS: Children presented more laboratory abnormalities but clinical and angiographic characteristics were similar to those presented by the adolescents. Diagnosis delay is longer in younger patients.

Pompe disease, the must-not-miss diagnosis: A report of 3 patients.

INTRODUCTION: Pompe disease is a progressive and debilitating neuromuscular disorder that presents with a heterogeneous array of signs and symptoms including proximal muscle weakness, respiratory insufficiency, and/or elevated creatine kinase levels. It mimics other neuromuscular disorders, making its diagnosis challenging and often significantly delayed, thereby increasing morbidity and early mortality of the disease. METHODS: Three Pompe disease patients are discussed to highlight the challenging path to diagnosis and the common cluster of symptoms that could lead to timely and accurate diagnosis. RESULTS: After significant delays in diagnosis, Pompe disease was diagnosed on the basis of the pattern of proximal weakness. CONCLUSIONS: Suspicion and recognition of the characteristic symptoms of Pompe disease may improve both the timing and accuracy of the diagnosis, which will improve clinical outcomes and minimize disease progression.

Sex differences in health care-seeking behavior for acute coronary syndrome in a low income country, Peru.

OBJECTIVE: : Recognizing reasons for prehospital delay after symptoms of acute coronary syndrome (ACS) is established in developed countries yet evidence from Latin America is limited. We aimed to assess ACS symptom recognition, health care-seeking behavior, and confidence in local health care facilities to take care of ACS by gender in a sample of Peruvians. METHODS: : A community-based interview survey in a peri-urban area in Lima, Peru. The 24-item study instrument included vignettes and questions assessing identification of urgent and emergent ACS symptoms, anticipated help-seeking behaviors, and confidence in local health care facilities. RESULTS: : In the study population (90 people; 45.6% men; mean age, 43.5 years), women were 4 times less likely to correctly attribute symptoms of chest pain to the heart (OR = 0.23; 95% CI: 0.063-0.87; P = 0.03). Women were much more likely to respond that a man would "Seek help" (OR = 4.54; 95% CI: 1.21-16.90; P = 0.024) and that "Yes," a woman would be less likely to seek help for chest pain symptoms (OR = 3.26; 95% CI: 1.13-9.41 P = 0.029) after adjusting for age, education level, age at migration, and history of chest pain. Women were less likely than men to think that their local Health Care Post would help them if they had a heart attack (2.1% vs. 14.6%; P = 0.04), and only 18.7% of women believed that their local emergency room would help them. CONCLUSIONS: : Our findings suggest women are less likely to seek help for chest pain and women and men in a peri-urban area in Peru are not confident in their local health care facility to treat urgent or emergent ACS symptoms.