Elastofibroma Dorsi: experience of a single center.

OBJECTIVE: Elastofibroma dorsi (ED) is a rare benign tumor located in the subscapular region. The aim of this study was to evaluate our clinical findings, surgical approach, and management of ED patients based on single-center data with the relevant literature. METHODOLOGY: A retrospective evaluation was conducted on 20 patients who were operated on for ED. RESULTS: Of the 16 (80%) female patients and 4 (20%) male patients, the main complaint was swelling (80%), and 10 cases (50%) had unilateral involvement. All patients were operated on using standard surgical procedures. Despite a long follow-up period (6-53 months, mean of 26.6 months), no recurrences were observed. Two patients (10%) required simple needle aspiration due to post-operative seroma, and one patient, due to infection, required evacuation (5%). CONCLUSION: Although rare, ED should not be overlooked in patients with swelling in the back region. Our data suggests that surgery can be safely performed in such patients after a clinical and radiological diagnosis of ED has been established.

OBJETIVO: Evaluar los hallazgos clínicos, el enfoque quirúrgico y el manejo de los pacientes con urgencias a partir de los datos de un solo centro y la literatura relevante. MÉTODO: Se realizó una evaluación retrospectiva de 20 pacientes que fueron operados de ED. RESULTADOS: En los 16 (80%), pacientes del sexo femenino y cuatro (20%) del sexo masculino, la queja principal fue la tumefacción (80%) y 10 casos (50%) tuvieron afectación unilateral. Todos los pacientes fueron operados utilizando procedimientos quirúrgicos estándar. Con un largo periodo de seguimiento (6-53 meses, media de 26.6 meses), no se observaron recurrencias. Dos pacientes (10%) requirieron aspiración con aguja simple por seroma posoperatorio y un paciente (5%) requirió evacuación por infección. CONCLUSIONES: Aunque es raro, el ED no debe pasarse por alto en pacientes con hinchazón en la región de la espalda. Nuestros datos sugieren que la cirugía se puede realizar de manera segura en estos pacientes después de haber establecido el diagnóstico clínico y radiológico de ED.

Características clínicas, epidemiológicas y de laboratorio en hepatitis autoinmune / Clinical, epidemiological and laboratory characteristics in autoimmune hepatitis / Características clínicas, epidemiológicas e laboratoriais em hepatite autoimune

Resumen La hepatitis autoinmune (HAI) es una inflamación hepatocelular progresiva. En la Unidad de Hepatología y Alcoholismo del hospital se atienden aproximadamente 550 pacientes anualmente, muchos de ellos con diagnóstico de HAI. El objetivo de este trabajo fue evaluar las características clínicas, epidemiológicas y los parámetros de laboratorio de pacientes con HAI desde 2012 hasta 2018. Se incluyeron 44 pacientes: 40 con HAI tipo I y 4 seronegativos. El 91% fueron mujeres con edades entre 13 y 68 años; la forma de presentación más frecuente fue la hepatitis aguda. Se realizó biopsia en 32 pacientes; 50% mostraban características de HAI (hepatitis de interfase) y 35% presentaban cirrosis en la histología. El estudio ofrece una imagen aproximada de las particularidades de la HAI de la población atendida en este hospital. Respecto a otras poblaciones, esta comunicación muestra un mayor porcentaje de pacientes de sexo femenino, con alta preponderancia de presentación aguda y de las enfermedades autoinmunes asociadas.

Abstract Autoimmune hepatitis (AIH) is a progressive hepatocellular inflammation. Approximately 550 patients are treated per year in the Hepatology and Alcoholism Unit of the hospital, many of them with a diagnosis of AIH. The objective was to evaluate clinical and epidemiological characteristics and laboratory parameters of patients with AIH from 2012 to 2018; 44 patients were included, 40 with type I AIH and four seronegative patients. Ninety- one per cent were women aged between 13 and 68 years old. The most frequent form of presentation (54.5%) was acute hepatitis. Thirty-two patients required biopsy; 50% showed features of AIH (interphase hepatitis) and 35% had histologic cirrhosis. The study offers an approximate image of the particularities of AIH in the population treated in this hospital. Compared to other populations, this communication shows a higher percentage of female patients, with a high preponderance of acute presentation and associated autoimmune diseases.

Resumo A hepatite autoimune (HAI) é uma inflamação hepatocelular progressiva. Na Unidade de Hepatologia e Alcoolismo do hospital, aproximadamente 550 pacientes são atendidos por ano, muitos deles com diagnóstico de HAI. O objetivo deste trabalho foi avaliar as características clínicas, epidemiológicas e parâmetros laboratoriais de pacientes com HAI de 2012 a 2018. Foram incluídos 44 pacientes, 40 com HAI tipo I e quatro soronegativos. Noventa e um por cento foram mulheres com idades entre 13 e 68 anos; a forma de apresentação mais comum foi a hepatite aguda. Biópsias foram realizadas em 32 pacientes, 50% apresentando características de HAI (hepatite de interface) e 35% com cirrose na histologia. O estudo fornece uma visão aproximada das características da HAI na população atendida neste hospital. Em comparação com outras populações, esta comunicação mostra uma maior proporção de pacientes do sexo feminino, com alta incidência de apresentação aguda e das doenças autoimunes associadas.

Caracterización de los aspectos etiológicos, fisiopatológicos, clínicos y terapéuticos de la sepsis y shock séptico / Characterization of the etiological, physiopathological, clinical and therapeutic aspects of sepsis and septic shock

La sepsis es un síndrome clínico basado en una compleja y dinámica interacción entre patógeno y huésped. La identificación de diferentes fenotipos y la heterogeneidad de la sepsis obligan a cambiar paradigmas en el diagnóstico-tratamiento. El shock séptico o septicémico se define como la hipotensión inducida por sepsis que persiste a pesar de la reanimación adecuada con fluidos, acompañada de alteraciones de la perfusión o disfunción de órganos. O la necesidad de fármacos vasoactivos para corregir la presión arterial. Es un tipo de shock distributivo, con reducción de las resistencias vasculares sistémicas y generalmente aumento del gasto cardíaco. En los últimos años, ha evolucionado la atención de la sepsis con especial enfoque shock séptico (SS) por su gravedad y su mayor morbimortalidad. En consideración a lo anterior, esta revisión tiene el propósito de realizar la caracterización de esta patología en los aspectos etiológicos, fisiopatológicos, clínicos y terapéuticos más importantes

Sepsis is a clinical syndrome based on a complex and dynamic interaction between pathogen and host. The identification of different phenotypes and the heterogeneity of sepsis requires a paradigm shift in its diagnosis and treatment. Septic shock is defined as a sepsis-induced hypotension that persists despite adequate fluid resuscitation, accompanied by perfusion abnormalities or organ dysfunction. It may also involve the need for vasopressor drugs to correct blood pressure. It is a type of distributive shock, characterized by reduced systemic vascular resistance and typically increased cardiac output. In recent years, the management of sepsis has evolved with a special focus on septic shock (SS) due to its severity and higher morbidity and mortality. Considering the above, this review aims to characterize this condition in terms of its etiological, pathophysiological, clinical, and therapeutic aspects

Observational analysis of clinical and pathological characteristics and their prognostic impact in Mexican patients with breast cancer: A multi-center study.

Breast cancer is the most incidental and deadly neoplasm worldwide; in Mexico, very few epidemiologic reports have analyzed the pathological features and its impact on their clinical outcome. Here, we studied the relation between pathological features and the clinical presentation at diagnosis and their impact on the overall and progression-free survival of patients with breast cancer. For this purpose, we collected 199 clinical records of female patients, aged at least 18 years old (y/o), with breast cancer diagnosis confirmed by biopsy. We excluded patients with incomplete or conflicting clinical records. Afterward, we performed an analysis of overall and progression-free survival and associated risks. Our results showed an average age at diagnosis of 52 y/o (24-85), the most common features were: upper outer quadrant tumor (32%), invasive ductal carcinoma (76.8%), moderately differentiated (44.3%), early clinical stages (40.8%), asymptomatic patients (47.8%), luminal A subtype (47.8%). Median overall survival was not reached, but median progression-free survival was 32.2 months (29.75-34.64, CI 95%) associated risk were: clinical stage (p < 0.0001) symptomatic presentation (p = 0.009) and histologic grade (p = 0.02). Therefore, we concluded that symptom presence at diagnosis impacts progression-free survival, and palpable symptoms are related to an increased risk for mortality.

From Infection to Death: An Overview of the Pathogenesis of Visceral Leishmaniasis.

Kala-azar, also known as visceral leishmaniasis (VL), is a disease caused by Leishmania infantum and L. donovani. Patients experience symptoms such as fever, weight loss, paleness, and enlarged liver and spleen. The disease also affects immunosuppressed individuals and has an overall mortality rate of up to 10%. This overview explores the literature on the pathogenesis of preclinical and clinical stages, including studies in vitro and in animal models, as well as complications and death. Asymptomatic infection can result in long-lasting immunity. VL develops in a minority of infected individuals when parasites overcome host defenses and multiply in tissues such as the spleen, liver, and bone marrow. Hepatosplenomegaly occurs due to hyperplasia, resulting from parasite proliferation. A systemic inflammation mediated by cytokines develops, triggering acute phase reactants from the liver. These cytokines can reach the brain, causing fever, cachexia and vomiting. Similar to sepsis, disseminated intravascular coagulation (DIC) occurs due to tissue factor overexpression. Anemia, hypergammaglobulinemia, and edema result from the acute phase response. A regulatory response and lymphocyte depletion increase the risk of bacterial superinfections, which, combined with DIC, are thought to cause death. Our understanding of VL's pathogenesis is limited, and further research is needed to elucidate the preclinical events and clinical manifestations in humans.

COVID-19: presentación clínica inicial y su correlación con la gravedad de la enfermedad / COVID-19: initial clinical presentation and its correlation with the severity of the disease

Los pacientes con COVID-19 tienen un amplio espectro de presentación clínica y las tasas de mortalidad en los casos graves son relativamente altas. La identificación tem prana de los factores de riesgo que se relacionan con la gravedad de la enfermedad es de vital importancia. Con el objetivo de correlacionar los síntomas iniciales de COVID-19 con la gravedad de la enfermedad, se realizó el presente estudio de cohorte transversal retrospectivo y observacional de 413 pacientes con diagnóstico de COVID-19 entre enero y marzo 2021. De todos los síntomas iniciales estudiados, la disnea (p < 001), fiebre (p 0,001), tos (p 0,002), odinofagia (p 0,01), cefalea (p 0,01) y síntomas gastrointestinales (p 0,03), se asociaron con el desarrollo de una enfermedad grave. Las comorbilidades que se asociaron con peor pronóstico fueron: hipertensión arterial (p < 0,001), obesidad (p < 0,001), EPOC (p < 0,001), extabaquismo (p < 0,001), diabetes (p 0,01), enfermedad cardiovascular previa (p 0,03), y enfermedad oncológica activa (p 0,04). En conclusión, los pacientes con diagnóstico de COVID-19, cuya manifestación inicial es disnea, fiebre, tos, odinofagia, cefalea y síntomas gastrointestinales, deben ser monitoreados de cerca para prevenir el deterioro de la enfermedad.

Patients with COVID-19 have a broad spectrum of clinical presentations, and mortal ity rates are relatively high in severe cases. Early identification of risk factors that are related to the severity of the disease is of vital importance. In order to correlate the initial symptoms of COVID-19 with disease severity, the present retrospective, cross-sectional, observational cohort study was conducted, including 413 patients diagnosed with COVID-19 between January and March, 2021. Of all the initial symptoms that were studied, dyspnea (p < 001), fever (p 0.001), cough (p 0.002), odynophagia (p 0.01), headache (p 0.01), and gastrointestinal symptoms (p 0.03) were associated with the development of severe illness. The comorbidities that were associated with the worst prognoses were: arterial hypertension (p < 0.001), obesity (p < 0.001), COPD (chronic obstructive pulmonary disease) (p < 0.001), former smoking (p < 0.001), diabetes (p 0.01), previous cardiovascular disease (p 0.03), and active oncological disease (p 0.04). In conclusion, patients diagnosed with COVID-19 whose initial manifestations include dyspnea, fever, cough, odynophagia, headache, and gastrointestinal symptoms should be closely monitored to prevent disease deterioration.

Chronic kidney disease of nontraditional causes in central Panama.

BACKGROUND: Over the last three decades, the mesoamerican region has seen an increase in the frequency of patients diagnosed with Chronic Kidney Disease of nontraditional causes (CKDnt) also known as Meso-American Nephropathy (MeN). A region with an increased frequency of patients with Chronic Kidney Disease (CKD) has been identified in central Panama. The present study aims to characterize the clinical presentation of patients with CKDnt in an understudied population of the central region of Panama and to compare them with patients with traditional chronic kidney disease (CKDt). METHODS: A retrospective descriptive study was conducted in a nephrology reference hospital in the central provinces of Herrera and Los Santos, comparing a group of 15 patients with CKDnt to 91 patients with CKDt. Sociodemographic variables, personal history, laboratory parameters, and of renal ultrasound were compared. RESULTS: Patients with CKDnt had a median age of 58 years (IQR: 52-61), significantly lower (P < 0.001) than patients with CKDt with a median age of 71 years (IQR: 64-78). Patients with CKDnt had a history of being agricultural (60%) and transportation (20%) workers, significantly higher than patients with CKDt (15%, P < 0.001 and 0%, P < 0.01 respectively). Renal atrophy and hyperuricemia are significant clinical markers of CKDnt (P < 0.001 and P < 0.05 respectively). CONCLUSION: To our knowledge, this is the first study in Panama to investigate the clinical presentation of patients with CKDnt and one of the few in Central America and the world that compares them with patients with CKDt. In central Panama the typical CKDnt patient is a male in his 50 s who is primarily engaged in agriculture or as a public transport driver. Renal atrophy and hyperuricemia are significant clinical markers of CKDnt. Further studies are needed to help understand the common determinants and risk factors for CKDnt development in Panama and Mesoamerica.

Lupus eritematoso sistémico en una población pediátrica hospitalaria Presentación clínica, diagnostico, manejo y sobrevida

RESUMEN Introducción: El lupus eritematoso sistémico (LES) es una enfermedad autoinmune, que tiene una evolución más severa cuando se inicia en la niñez. Objetivo: describir las manifestaciones clínicas, laboratoriales, tratamiento y sobrevida de los pacientes pediátricos con LES, en seguimiento en el Servicio de Reumatología Pediátrica de un hospital. Materiales y métodos: Estudio observacional descriptivo de seguimiento de una cohorte, retrospectivo, que incluyo a una población pediátrica con Lupus Eritematoso Sistémico Juvenil (LES) en seguimiento en el hospital, en el periodo de enero del 2019 a diciembre del 2020. Variables estudiadas fueron demográficas, tiempo de evolución hasta el diagnostico, manifestaciones clínicas, métodos de diagnóstico, complicaciones, tratamiento y sobrevida. Los datos fueron analizados con SPSS, utilizando estadísticas descriptivas. La sobrevida se determinó por la curva de Kaplan Maier. El comité de ética institucional aprobó el protocolo. Resultados: Cumplieron con los criterios de inclusión 52 pacientes, el 85,5% tenía más de 12 años, el 78,8% se sexo femenino, mediana de tiempo de evolución hasta el diagnostico de 2,3 meses. Predomino manifestaciones generales 78,8% y alteraciones hematológicas y renales se presentaron en 76,5% y 51,9% respectivamente. El 92% tenía Anticuerpos antinucleares positivo. El 25% ingreso a la unidad de cuidados intensivos pediátricos. La supervivencia fue de 65 meses con un IC 95% 59,9-71,5. Conclusiones: El grupo etario predominante fueron mayores de 12 años, con gran predominio de niñas. Las manifestaciones clínicas más frecuentes fueron las constitucionales, hematológicas y musculoesqueléticas. El 51,9% presentó alteraciones renales. Casi todos los pacientes presentaron ANA positivo. Todos recibieron terapia inmunosupresora. La supervivencia fue de 65 meses. (IC 95% 59,5 - 71,5)

ABSTRACT Introduction: Systemic lupus erythematosus (SLE) is an autoimmune disease, which has a more severe course when it begins in childhood. Objective: to describe the clinical and laboratory manifestations, treatment and survival of pediatric patients with SLE, under follow-up in the Pediatric Rheumatology Service of a hospital. Materials and methods: This was a retrospective, observational, descriptive and follow-up study of a cohort, which included a pediatric population with Juvenile Systemic Lupus Erythematosus (JSLE) in hospital follow-up, from January 2019 to December 2020. Variables studied were demographics, time of evolution until diagnosis, clinical manifestations, diagnostic methods, complications, treatment and survival. The data was analyzed with SPSS, using descriptive statistics. Survival was determined by the Kaplan Maier curve. The institutional ethics committee approved the protocol. Results: 52 patients met the inclusion criteria, 85.5% were over 12 years old, 78.8% were female, median time to diagnosis from presentation was 2.3 months. General manifestations were predominant in 78.8% and hematological and renal alterations were present in 76.5% and 51.9% respectively. 92% had positive antinuclear antibodies. 25% were admitted to the pediatric intensive care unit. Survival was 65 months with a 95% CI of 59.9-71.5. Conclusions: The predominant age group was older than 12 years, with a greater predominance of girls. The most frequent clinical manifestations were constitutional, hematological and musculoskeletal. 51.9% presented renal alterations. Almost all patients were ANA positive. All received immunosuppressive therapy. Survival was 65 months. (95% CI 59.5 - 71.5).

Different Clinical Presentations of Human Rhinovirus Species Infection in Children and Adults in Mexico.

Background: Human rhinoviruses (HRVs) are a common cause of influenza-like illness, with the ability to infect the upper and lower respiratory tracts. In this study we aim to describe the clinical and molecular features of HRV infection in Mexican children and adults. Methods: We performed a hospital-based, 4-year multicenter prospective observational cohort study of patients with influenza-like illness. Participants who tested positive for HRV were included. We described demographic, clinical, and laboratory characteristics and the association between HRV types, illness severity, and clinical outcomes. Results: Of the 5662 subjects recruited, 1473 (26%) had HRV; of those, 988 (67.1%) were adults (≥18 years) and 485 (32.9%) were children. One hundred sixty-seven (11.33%) samples were sequenced; 101 (60.5%) were rhinovirus species A (HRV-A), 22 (13.2%) were rhinovirus species B (HRV-B), and 44 (26.3%) were rhinovirus species C (HRV-C). Among children and adults, 30.5% and 23.5%, respectively, were hospitalized (non-intensive care unit [ICU]). The odds of HRV-C are higher than HRV-A for participants in the ICU (compared to outpatient) and when platelets, lymphocytes, white blood cells, and lactate dehydrogenase are increased. The odds of HRV-C are higher than HRV-A and HRV-B with shortness of breath. The odds of HRV-A are higher than HRV-B, and the odds of HRV-B are higher than HRV-C, when mild symptoms like muscle ache and headache occur. Conclusions: Rhinoviruses are a common cause of influenza-like illness. It is necessary to improve the surveillance, testing, and species identification for these viruses to understand different clinical presentations and risk factors associated with worse outcomes. Clinical Trials Registration. NCT01418287.

To what extent do typical components of shoulder clinical evaluation explain upper-extremity disability? A cross-sectional study.

BACKGROUND: Physical therapists use several evaluation measures to identify the most important factors related to disability. However, the degree to which these evaluation components explain shoulder disability is not well known and that may detract clinicians from the best clinical reasoning. OBJECTIVE: To determine how much evaluation components explain shoulder function. METHODS: Eighty-one individuals with unilateral shoulder pain for at least four weeks and meeting clinical exam criteria to exclude cervical referred pain, adhesive capsulitis, and shoulder instability, participated in this study. Several typical clinical evaluation components were assessed as potential independent variables in a regression model using the Disabilities of the Arm, Shoulder, and Hand (DASH) score as a proxy to shoulder function. Two multivariate models were built to include (1) evaluation components from physical exam plus clinical history and (2) a model considering all previous variables and magnetic resonance imaging (MRI) data. RESULTS: Pain catastrophizing was the best variable in the model explaining at least 10% of the DASH variance. Sex and lower trapezius muscle strength explained considerably less of shoulder function. The MRI data did not improve the model performance. CONCLUSION: The complexity of shoulder function is not independently explained by pathoanatomical abnormalities. Psychological aspects may explain more of shoulder function even when combined with physical components in some patients.

Monkeypox: considerations for the understanding and containment of the current outbreak in non-endemic countries.

The neglected and rare zoonotic disease caused by monkeypox virus (MPV) has recently spread widely, resulting in the largest known monkeypox outbreak outside of Africa, where it is endemic. MPV belongs to the Poxviridae family, genus Orthopoxvirus. At least two different clades have been identified, each having different fatality rates but recent cases are all phylogenetically related to the West African clade. MPV is transmitted directly by either person-to-person, -animal, or virus-contaminated fomite contact. The disease is often self-limited, and clinical symptoms include fever, skin lesions, and lymphadenopathies. At present, no deaths have been associated with the current outbreak. MPV DNA detection using molecular techniques is recommended for diagnosis. At least two approved drugs for antiviral therapy are available in the USA. Two different vaccines, including the vaccine used in the past for smallpox eradication and a new formulation more recently approved based on a live but non-replicating virus, are available that provide immunity to MPV. These and other clinical and public health considerations pertaining to the recent monkeypox outbreaks together with aspects of MPV biology are discussed in this article.

Neurocircuit models of obsessive-compulsive disorder: limitations and future directions for research

Obsessive-compulsive disorder (OCD) is a common psychiatric condition classically characterized by obsessions (recurrent, intrusive and unwanted thoughts) and compulsions (excessive, repetitive and ritualistic behaviors or mental acts). OCD is heterogeneous in its clinical presentation and not all patients respond to first-line treatments. Several neurocircuit models of OCD have been proposed with the aim of providing a better understanding of the neural and cognitive mechanisms involved in the disorder. These models use advances in neuroscience and findings from neuropsychological and neuroimaging studies to suggest links between clinical profiles that reflect the symptoms and experiences of patients and dysfunctions in specific neurocircuits. Several models propose that treatments for OCD could be improved if directed to specific neurocircuit dysfunctions, thereby restoring efficient neurocognitive function and ameliorating the symptomatology of each associated clinical profile. Yet, there are several important limitations to neurocircuit models of OCD. The purpose of the current review is to highlight some of these limitations, including issues related to the complexity of brain and cognitive function, the clinical presentation and course of OCD, etiological factors, and treatment methods proposed by the models. We also provide suggestions for future research to advance neurocircuit models of OCD and facilitate translation to clinical application.

Post-COVID-19 conditions in Ecuadorian patients: an observational study.

BACKGROUND: Post-COVID-19 disease is not yet clearly described, presenting significant clinical variability across populations and patients. This paper compares post-COVID symptoms in three patient groups with mild, moderate, and severe infections in Ecuadorian outpatients. METHODS: An epidemiological, observational, descriptive, and cross-sectional study was performed, and carried out in Quito, Ecuador. 1,366 non-hospitalized participants between 12 to 85 years, diagnosed with COVID-19 infection by molecular RT-PCR were included in the study. Demographic characteristics, including age groups, sex, ethnic group, work type, residence type, comorbidities, diagnosis, symptoms, and treatment were studied. FINDINGS: 1,366 outpatient Ecuadorian patients were analysed with SARS-CoV2 infection confirmed with a PCR+ test. The mean age was 39 (± 10) years, distributed by age groups ranging between 12 and 85 years; 81.41% were between 18 and 54 years. 50.29% were men, and 49.71% were women. INTERPRETATION: 64.3% of patients had symptoms between 4 to 6 weeks after infection, 21.1% showed ongoing symptoms between 6 to 12 weeks, and 14.6% had symptoms for more than 12 weeks. The most common symptom was fatigue in 67.3% of patients, followed by headache in 45.2%, body pain in 42.3%, and sleep disorders (insomnia, sleep apnoea, restless leg syndrome) in 36.5%. 69.3% of patients showed mild infection, 21.7% moderate, and 9.0% severe infection. On average, patients' daily life activities showed a 6.8% mean degree of impact following infection. A sedentary lifestyle (walking less than 30 minutes a day) was the most critical risk factor (40.3%), followed by being a health worker (11.87%). Patients aged ≥55 years with HTN, CKD, smoking, and sedentary lifestyle were 4.39, 1.92, 9.19, 4.07, and 2.42 times more likely to have a severe infection level. At least 30% of patients do not feel recovered from COVID-19 infection. FUNDING: The author declares that the financial resources for the preparation of this research come from their self-management.

Pediatric adrenocortical tumors cohort characteristics and long-term follow-up at a single Argentinian tertiary center.

Pediatric adrenocortical tumors are rare and heterogeneous endocrine malignancies. OBJECTIVES: To report clinical, biochemical, and histological features, staging, and therapeutic interventions in a cohort of 28 patients treated at a single tertiary center. METHODS: A retrospective review of medical records of children with PACT (diagnosed before <18 years of age) followed between 1987-2018 at Hospital de Pediatría Garrahan, Buenos Aires, Argentina. RESULTS: Mean age at diagnosis was 4.6 years (range, 0.3-17.3 years) and median follow-up was 4.17 years (range, 0-12 years). Female to male ratio was 2.5:1. Signs and symptoms that prompted medical intervention were hormonal overproduction (57%), abdominal complaints (36%), and hypertensive encephalopathy (7%). In patients with clinically virilizing tumors (n=16) mean height standard deviation score (SDS) and bone age advance were significantly higher while body mass index (BMI) SDS was significantly lower than in those with clinical Cushing's (n=10) (p<0.05). Serum dehydroepiandrosterone sulfate (DHEAS) levels were significantly higher in stage IV than in stage I (p=0.03). Total adrenalectomy was performed in 26 patients. Eight patients (stage III-IV) received adjuvant chemotherapy. Five-year overall and disease-free survival were 100% for ST I-II, and 51% (95% CI 21-82) and 33% (95% CI 1.2-65) for ST III-IV, respectively (p=0.002). No statistical difference was found when comparing 2-year parameters with and without adjuvant chemotherapy. CONCLUSIONS: Height SDS and BMI SDS seem to mirror hormonal secretion in pediatric adrenocortical tumors. Higher DHEAS levels were found in patients with more advanced disease. Further large-scale studies are needed to validate a possible role for DHEAS as a biochemical marker of tumor stage and to draw robust conclusions on the use of adjuvant chemotherapy.

The spectrum of biopsy-proven glomerular diseases in a tertiary Hospital in Southern Brazil.

BACKGROUND: The prevalence and distribution of glomerular diseases differ among countries, and the indication to perform a kidney biopsy varies among centres. In this study, we assessed the prevalence of primary and secondary glomerulopathies based on histological diagnoses, and the correlation between glomerulopathies and demographic and clinical data was evaluated. METHODS: In this study, 1051 kidney biopsies were retrospectively reviewed between 2000 and 2018. Patient demographic, clinical and laboratory data were assessed. The prevalence of primary glomerulonephritis (PG) and secondary glomerulopathies (SG), as well as tubulointerstitial diseases (TIDs), hereditary nephropathies (HNs) and other diagnoses, were determined. The frequency of primary and secondary glomerulopathies was evaluated by age group, and the temporal variation in frequencies across three time periods (2000-2005, 2006-2011, and 2012-2018) was reported. RESULTS: The prevalence of SG predominated (52.4%), followed by PG (29.6%), other diagnoses (10.7%), TID (6.6%) and HN (1.1%). Among the primary forms of glomerular disease, focal segmental glomerulosclerosis (FSGS) was the most common (37.3%), followed by IgA nephropathy (IgAN, 24.4%), membranous nephropathy (MN, 18.6%) and minimal change disease (MCD, 8.4%). Lupus nephritis (LN, 41.1%) was most common in patients with SG, followed by diabetic kidney disease (DKD, 17.8%), systemic vasculitis (SV, 10.2%) and secondary FSGS (2nd FSGS, 10%). Nephrotic syndrome was the most common clinical presentation in patients with PG and also in patients with DRD and 2nd FSGS, whereas in patients with IgAN and SV, nephritic syndrome was the main presentation. For the age group between 18 and 50 years, LN, FSGS and IgAN predominated; for patients aged between 51 and 65 years, the proportion of DKD and 2nd FSGS increased, and SV was more common in patients > 65 years. The temporal variation in PG across the three time periods showed a statistically significant increase in IgAN (p = 0.001) and a reduction in FSGS over time (p < 0.001). In SG, there was a reduction in LN (p = 0.027) and an increase in DKD (p < 0.001) over time, with a tendency for 2nd FSGS to decrease over time (p = 0.053). CONCLUSIONS: In the studied kidney biopsy registry, FSGS and IgAN were the most prevalent diagnoses in patients with PG, and LN and DKD were the most prevalent in patients with SG. Nephrotic syndrome was the major indication for biopsy. When comparing the temporal variation in glomerulopathies, there was a reduction in FSGS and an increase in IgAN in patients with PGs over time, and for patients with SGs, there was a reduction in LN with an increase in cases of DKD over time.

[Neuropsychiatric aspects of anti-NMDA receptor encephalitis]. / Aspectos neuropsiquiátricos de la encefalitis por anticuerpos contra el receptor NMDA.

Anti-N-methyl-D-aspartate (NMDA) receptor encephalitis is a potentially lethal clinical entity that belongs to the group of antibody-mediated encephalitis against synaptic proteins. It shows IgG antibodies against the NR1 subunit of the NMDA receptor (NMDA-R), which have been associated with psychiatric and neurological symptoms that develop in stages in the course of the disease. The predominance of neuropsychiatric symptoms in the early stages of the disease results in an increased number of patients that search for psychiatric evaluation as their first contact with the health system. For this reason, it is vital for physicians to recognize this entity as an important differential diagnosis in their clinical practice because, despite the severity of this condition, more than 75 % of patients achieve a substantial recovery with appropriate and timely treatment. We present a review of the literature on this disease, with special emphasis on the neuropsychiatric aspects.

La encefalitis por anticuerpos contra el receptor anti-N-metil-D-aspartato (NMDA) es una entidad clínica potencialmente letal perteneciente al grupo de las encefalitis mediadas por anticuerpos contra proteínas sinápticas. En esta se demuestran anticuerpos IgG contra el receptor de NMDA (NMDAr), asociados con síntomas psiquiátricos y neurológicos que se desarrollan por estadios en el curso de la enfermedad. El predominio de síntomas neuropsiquiátricos en las etapas tempranas provoca que un elevado porcentaje de pacientes busquen evaluación psiquiátrica como un primer contacto con el sistema de salud. Por esta razón, es vital que los médicos reconozcan esta entidad como un diagnóstico diferencial importante en la práctica clínica, puesto que, a pesar de la gravedad de esta condición, más de 75 % de los pacientes logra una recuperación sustancial con un tratamiento adecuado y oportuno. Presentamos una revisión de la literatura sobre esta enfermedad, con especial énfasis en los aspectos neuropsiquiátricos.

Síndrome coronario agudo atípico, un reto diagnóstico: revisión de tema / A review on Atypical Acute Coronary Syndrome, a diagnostic challenge / Síndrome Coronariana Aguda Atípica, Um Desafio Diagnóstico: Revisão De Tópico

El síndrome coronario agudo (SCA) es la principal causa de muerte, por esta razón, es fundamental reconocer sus características clínicas. Tradicionalmente ha sido descrito un cuadro denominado típico, consistente en dolor torácico retroesternal o en la región izquierda del tórax, explicado como una sensación de presión o pesadez, de duración superior a 20 minutos, que se puede irradiar a la extremidad superior izquierda o derecha, cuello o mandíbula, asociado a diaforesis y náuseas. Diversos grupos de pacientes como mujeres, diabéticos, ancianos y con antecedentes de falla cardiaca o accidente cerebrovascular presentan cuadros llamados atípicos, que en gran proporción no manifiestan dolor torácico. Varios estudios plantean que no hay síntomas suficientemente sensibles y específicos para ser considerados típicos en el contexto del SCA, por lo que el diagnóstico debe incluir además de la evaluación clínica, el electrocardiograma, los factores de riesgo y los biomarcadores. El uso de puntajes de riesgo como el HEART ha demostrado ser útil en este escenario.

Acute coronary syndrome (ACS) is the main cause of mortality around the world; the-refore, it is essential to recognize the clinical characteristics that increase its diagnostic suspicion. Traditionally, it has been defined as a so-called typical condition, consisting of retrosternal chest pain or pain in the left region of the thorax. It is described as a feeling of pressure or heaviness, lasting more than 20 minutes, which can radiate to the left or right upper limb, neck or jaw, and can be associated with diaphoresis and nau-sea. Various groups of patients such as women, diabetics, the elderly, and those with a history of heart failure or cerebrovascular accident, have so-called atypical clinical sets of symptoms, which in a large proportion may not present chest pain. Various studies suggest that there are not sufficiently sensitive and specific symptoms to be considered typical in the context of ACS, thus, the approach must include the electrocardiogram, risk factors and biomarkers in addition to the clinical evaluation. The use of risk scores such as the HEART has proven very useful in this scenario.

A síndrome coronariana aguda (SCA) é a principal causa de morte, por isso é fundamen-tal o reconhecimento de suas características clínicas. Tradicionalmente, é descrita uma condição dita típica, que consiste em dor torácica retroesternal ou na região esquerda do tórax, explicada como uma sensação de pressão ou peso, com duração superior a 20 minutos, que pode irradiar para a esquerda ou direita membro superior, pescoço ou mandíbula, associado a sudorese e náusea. Vários grupos de pacientes como mulheres, diabéticos, idosos e com história de insuficiência cardíaca ou acidente vascular cerebral apresentam condições atípicas, que em grande parte não manifestam dor no peito. Vários estudos sugerem que não existem sintomas suficientemente sensíveis e específicos para serem considerados típicos no contexto da SCA, de modo que o diagnóstico deve incluir, além da avaliação clínica, o eletrocardiograma, fatores de risco e biomarcadores. O uso de escores de risco, como o CORAÇÃO, tem se mostrado útil nesse cenário.

Clinical Presentation and Perioperative Management of Pheochromocytomas and Paragangliomas: A 4-Decade Experience.

PURPOSE: Latin American reports on pheochromocytomas and paragangliomas (PPGLs) are scarce. Recent studies demonstrate changes in clinical presentation and management of these patients. Herein, we assessed the main characteristics of PPGL patients in our academic center over the past 4 decades. METHODS: Demographic, clinical, biochemical, and perioperative data from 105 PPGL patients were retrospectively and prospectively collected over the 1980-2019 period. Data were organized into 4 periods by decade. RESULTS: Age at diagnosis, gender, tumor size and percentage of bilaterality, percentage of paragangliomas, and metastases remained stable across the 4 decades. The proportion of genetic testing and incidentalomas increased in recent decades (all P < 0.001). Therefore, we compared PPGLs diagnosed as incidentalomas (36%) with those clinically suspected (64%). Incidentalomas had fewer adrenergic symptoms (38 vs. 62%; P < 0.001) and lower rates of hypertension (64% vs. 80%; P = 0.01) and hypertensive crisis (28% vs. 44%; P = 0.02); also, they had lower functionality (79% vs. 100%; P = 0.01) and lower catecholamines levels (8.4-fold vs. 12.5-fold above upper cutoffs; P = 0.04). Regarding management of all PPGLs over the decades, we observed significant increases in both perioperative doxazosin dose (P = 0.003) and laparoscopic approach rates (P < 0.001), along with a decrease in the length of hospital stays (P = 0.007). CONCLUSIONS: We observed a change in the clinical presentation of PPGL in recent decades, with a marked increase in incidental cases and milder symptoms. The implementation of a multidisciplinary program for adrenal disorders in our institution has translated into more timely diagnoses, more genetic testing, and improvements in perioperative management.

Características clínicas, demográficas y acceso a los productos sin gluten de pacientes con enfermedad celíaca registrados en la FUPACEL / Clinical and demographic characteristics, and access to gluten free products of patients with celiac disease registered in the FUPACEL

La enfermedad celíaca (EC) es una enfermedad inflamatoria autoinmune que afecta la mucosa del intestino delgado que lleva a un estado de mal absorción en pacientes genéticamente susceptibles desencadenada por la ingesta de gluten. Tiene síntomas inespecíficos, complicaciones asociadas y no existe a nivel nacional una ley de apoyo económico para las personas con dificultad para seguir una dieta libre de gluten. El objetivo de este estudio observacional, descriptivo, de corte transversal fue describir las características clínicas, demográficas y acceso a productos sin gluten de 237 pacientes con enfermedad celíaca registrados en la Fundación Paraguaya de Celiacos (FUPACEL) en el 2020 y que aceptaron responder una encuesta en línea publicada en la página oficial de la FUPACEL. El 70,4% de los participantes era del sexo femenino, la edad de diagnóstico fue en el 34,5% entre 20-30 años, 48 % tenía algún familiar con EC, el 69,1% presentó distensión abdominal como sintomatología inicial, 16,8% presentó hipotiroidismo como patología asociada, y 42% fue hospitalizado al menos una vez. El 82,7% de los encuestados respondió que la dieta era suficiente como tratamiento, 48% tenía un trabajo y podía solventar los gastos, sin embargo, el 79,3% opinó tener acceso limitado a los productos sin gluten, el 92% que los alimentos sin gluten eran costosos y que se necesitaba una ley de apoyo económico para solventar los gastos. La mayoría reconoció que la dieta sin gluten como tratamiento era suficiente, sin embargo, por su alto costo se necesita una ley de apoyo económico para las personas con enfermedad celiaca

Celiac disease (CD) is an autoimmune inflammatory disease that affects the mucosa of the small intestine that leads to a state of malabsorption in genetically susceptible patients triggered by the ingestion of gluten. It has nonspecific symptoms, associated complications, and there is no national financial support law for people with difficulty following a gluten-free diet. The objective of this observational, descriptive, cross-sectional study was to describe the clinical, demographic characteristics and access to gluten-free products of 237 patients with celiac disease registered in the FUPACEL in 2020 who accepted to answer a online survey published in the official FUPACEL webpage. Seventy-point four percent of the patients were female, their age of diagnosis was between 20-30 years in 34.5%, 48% had relatives with CD, 69.1% presented abdominal distension as initial symptoms, hypothyroidism was present in 16.8% as associated pathology, and 42% were hospitalized at least once. Eighty-two-point seven percent of those surveyed answered that diet was sufficient as a treatment, 48% had a job and could afford expenses, however, 79.3% said they had limited access to gluten-free products, 92% that gluten-free foods were expensive and a financial support law was needed to cover the costs. Most recognized that a gluten-free diet as a treatment was sufficient, however, due to its high cost, a law of financial support is needed for people with celiac disease

Clinical Presentation, Genetic Etiology, and Coenzyme Q10 Levels in 55 Children with Combined Enzyme Deficiencies of the Mitochondrial Respiratory Chain.

OBJECTIVES: To evaluate the clinical symptoms and biochemical findings and establish the genetic etiology in a cohort of pediatric patients with combined deficiencies of the mitochondrial respiratory chain complexes. STUDY DESIGN: Clinical and biochemical data were collected from 55 children. All patients were subjected to sequence analysis of the entire mitochondrial genome, except when the causative mutations had been identified based on the clinical picture. Whole exome sequencing/whole genome sequencing (WES/WGS) was performed in 32 patients. RESULTS: Onset of disease was generally early in life (median age, 6 weeks). The most common symptoms were muscle weakness, hypotonia, and developmental delay/intellectual disability. Nonneurologic symptoms were frequent. Disease causing mutations were found in 20 different nuclear genes, and 7 patients had mutations in mitochondrial DNA. Causative variants were found in 18 of the 32 patients subjected to WES/WGS. Interestingly, many patients had low levels of coenzyme Q10 in muscle, irrespective of genetic cause. CONCLUSIONS: Children with combined enzyme defects display a diversity of clinical symptoms with varying age of presentation. We established the genetic diagnosis in 35 of the 55 patients (64%). The high diagnostic yield was achieved by the introduction of massive parallel sequencing, which also revealed novel genes and enabled elucidation of new disease mechanisms.