The ATLAS ASMA Study: Assessing the Impact of Asthma on Patients' Life - The Spanish Patients' Perspective.

Purpose: ATLAS ASMA described the psychosocial impact of asthma on patients' daily life from patients' perspectives (in terms of impaired personal and intimate relationships, sleep quality, leisure time, daily activities, and others) in Spain. Secondary objective includes description of time since diagnosis, expectations, and satisfaction of patients about disease, treatment and medical assistance received, adherence to treatment, perceived control of asthma, and health-related quality of life. Patients and Methods: This was a cross-sectional, observational study, based on a self-administered online survey for adult patients (≥18 years) with asthma. Patients with asthma diagnosis of any type and severity who voluntarily participated in the survey through a web link were included consecutively. In the present manuscript, only adult patients' data are included. Results: A total of 132 adults with asthma were included. Moderate/severe asthma constituted 59.1% of the patients (females 71.2%). Overall, most relevant areas affected due to asthma were leisure activities (67.0%) and the quality/quantity of sleep (52.3%). Moderate/severe patients perceived some degree of impairment in work, school, or at home due asthma more frequently vs mild patients (55.2% vs 10.9%). Poorly controlled asthma (ACT≤19) was reported in 41 (70.7%) and 10 (21.7%) moderate/severe and mild patients (p<0.000), respectively. Mild patients obtained higher mean (SD) Mini-AQLQ score than moderate/severe asthma patients (5.6 [1.0] vs 4.3 [1.1], p<0.000), likewise higher significant results for every individual dimension. Most patients cited little limitation to intense efforts (20.5%). Half of the patients mentioned needing more information about asthma. Topics those patients like to have more information were difficulties that may can have and legal topics (78.6%), asthma evolution (78.6%), secondary effects or issues related to the treatment (61.9%) and legal topics (61.9%). Conclusion: The study reported important insights on psychosocial impact of asthma on patients' daily life from patients' perspectives along with health determinants in asthma-related health outcomes, sociodemographic and psychosocial factors.

Compassion and decision fatigue among healthcare workers during COVID-19 pandemic in a Colombian sample.

Being compassionate and empathic while making rational decisions is expected from healthcare workers across different contexts. But the daily challenges that these workers face, aggravated by the recent COVID-19 crisis, can give rise to compassion and decision fatigue, which affects not only their ability to meet these expectations but has a significant negative impact on their wellbeing. Hence, it is vital to identify factors associated to their exhaustion. Here, we sought to describe levels of compassion and decision fatigue during the pandemic, and to identify factors related to these forms of exhaustion. We collected data using self-reported questionnaires to measure compassion fatigue, decision fatigue, and grit in five intervals from April to November, 2020 (N = 856). Our results showed a negative correlation between grit and compassion and decision fatigue. We also found that under the circumstances studied grit tends to be higher in technicians, nurses, other professionals (psychologists, social workers), and workers at the Emergency Room (ER), and lower in general practitioners. Compassion fatigue tend to be higher for technicians, whereas decision fatigue was lower for specialists, general practitioners, and technicians, and higher for those working at private hospitals.

Routine Pathology Examination of Breast Tissue in Adolescent Reduction Mammaplasty: Not Cost Effective in a 7-Year Review.

BACKGROUND: Routine pathology examination of breast tissue in reduction mammaplasty (RM) is performed with aims of detecting incidental malignancy or risk-increasing lesions. In adolescent patients, the reported incidence ranges between 0% to 0.01%, and costs of pathology claims range between $23 and $614 per analysis. We aim to investigate the rate of incidental findings and the cost-effectiveness of routine pathology examination in adolescent RM. METHODS: A single-center retrospective review of the pathology results for 132 breast specimens from 66 consecutive RM patients was performed. Data collected for analysis included breast cancer risk factors, demographic information, and operative variables. RESULTS: Zero cases of incidental malignant or risk-increasing lesions were found among the 132 breast specimens from 66 patients aged between 10 and 24 years. Of the 132 specimens, 34 (26%) contained benign fibrocystic disease, which was significantly associated a body mass index greater than 30 kg/m 2 and tissue resection weight greater than 1000 g per breast ( P = 0.003, P = 0.007) respectively. CONCLUSIONS: Based on the available data, the use of routine specimen analysis costs more than US $150 million for one breast cancer diagnosis during RM in this age group. In our study, zero atypical, precancerous, or cancerous lesions were detected in a 7-year analysis. The results of this study support the current literature, which reports no occurrence of incidental findings in young women and may promote a greater understanding of evidence-based healthcare spending while concomitantly decreasing the strain placed on histopathology services.

Perineal Surgery: A Novel Use for the Keller Funnel.

What are the effects of radiation therapy on local tissue and structures seen in anterior perineal resection requiring vertical rectus abdominis myocutaneous flap coverage?What are the indications and benefits of the Keller Funnel?What are important factors that affect vertical rectus abdominis myocutaneous flap viability in anterior perineal resection?Why was the Keller Funnel indicated compared with other techniques in the setting of a narrow pelvic inlet?

Social Capital and Lifestyle Impacts on Mental Health in University Students in Colombia: An Observational Study.

Introduction: For young adults, the first year of higher education represents a transition period into adulthood associated with an increased risk of developing depression, anxiety, and stress, contributing to deteriorating physical and mental health. The present study aimed to analyze the relationship between depressive symptoms and social capital and lifestyles among Colombian university students. Methods: In 2020, a longitudinal repeated measures study was conducted on first year students at Universidad de los Andes in Bogota, Colombia. The study was conceptualized and approved by the university before the COVID-19 pandemic appeared. Each student completed a self-administered questionnaire including questions on sociodemographic characteristics, depressive symptoms, perceived stress, social capital, and lifestyles. The study's pilot was conducted in November 2019, and the two measurement points were in January 2020 (wave 1, before the COVID-19 pandemic was declared) and in August 2020 (wave 2, during the COVID-19 pandemic). A binary logistic regression analysis was performed to assess the relationship between depressive symptoms, perceived stress, social capital, and lifestyles. Findings: A total of 609 first year students (response rate = 58.11%) participated in wave 1, and 42% of the participants showed signs of clinically relevant depressive symptoms. In wave 2, despite the difficulties encountered in collecting data due to the COVID-19 pandemic, 216 students from wave 1 participated (35.47%). An increase in a sedentary lifestyle was observed (31.49%). We found that cognitive and behavioral social capital levels decreased by 12.03 and 24.54%, respectively. In addition, we observed a 6.5% increase in students with clinically relevant depressive symptoms compared to wave 1. A low level of behavioral [OR: 1.88; 95% CI (1.16, 3.04)] social capital was associated with clinically relevant depressive symptoms. Conclusion: The health of university students continues to be a public health concern. The study suggests that social capital may play an important role in preventing depressive symptoms. Therefore, universities should put effort into programs that bring students together and promote the creation of social capital.

Recommendations for the diagnosis and management of persons with suspected vaccine-induced immune thrombotic thrombocytopenia (VITT) / Recomendaciones para diagnostico y manejo de personas con trombocitopenia trombotica inmune inducida por vacunas (VITT)

Abstract In recent months, rare cases of thrombosis at unusual sites associated with thrombocytopenia, occurring within a typical risk window (i.e., 4-28 days) after receiving SARS CoV2 vaccines, have been reported. Healthcare professionals should be prepared to detect these cases on time. The Expert Panel of the Knowledge Management and Transfer Network conducted a free search of the related literature. With the available information and the clinical expertise of the working group, we formulated, reviewed, and endorsed recommendations for the timely suspicion, diagnosis (case definitions, the use of initial laboratory and imaging tests, specific tests), and management of these thrombotic conditions. This document is considered a living document that will be updated as new evidence emerges, and recommendations may change over time.

Resumen En meses recientes se han reportado casos raros de trombocitopenia y trombosis en sitios inusuales, que ocurren dentro de una ventana de riesgo típica ( por ejemplo de 4 a 28 días) luego de recibir vacunas de SARS CoV 2. Los profesionales de la salud deben estar preparados para detectar estos casos a tiempo. Un panel de expertos y una red de transferencia de conocimiento realizó una búsqueda libre de literatura seleccionada. Con la información disponible y la experticia clínica del grupo de trabajo revisamos y dimos recomendaciones para la sospecha temprana, el diagnostico (definición de caso, el uso de pruebas de laboratorio especificas y de imágenes diagnósticas) para le manejo de estas condiciones tromboticas. Este documento es considerado un documento vivo que debe ser actualizado a medida que surja nueva evidencia y las recomendaciones vayan cambiando con el tiempo

Inhaled indacaterol/glycopyrronium/mometasone furoate fixed-dose combination in moderate-to-severe asthma.

INTRODUCTION: Fixed-dose long-acting beta2-agonist (LABA)/inhaled corticosteroid (ICS) combinations and add-on therapies as needed are the mainstay for maintenance therapy in asthma. However, more than 40% of patients have an inadequately controlled disease. The development of triple fixed-dose combinations consisting of long-acting muscarinic antagonist (LAMA)/LABA/ICS has paved the way for a new approach to reach therapeutic goals of an optimal control of symptoms and an effective prevention of future exacerbations. AREAS COVERED: A search was conducted on PubMed (MEDLINE), using the MeSH terms [asthma] + [indacaterol] + [glycopyrronium] +[mometasone furoate] + [treatment], until October 2021. Original data from clinical trials, prospective and retrospective studies and reviews were selected. Clinical studies with IND/MF/GLY (Enerzair Breezhaler) are summarized, and its place in current asthma therapy is examined. EXPERT OPINION: Triple therapy has been shown to be an effective and safe therapeutic option for asthma patients who remain uncontrolled despite ICS/LABA combination. The recently approved single-inhaler indacaterol/glycopyrronium/mometasone fixed dose combination has demonstrated to significantly reduce exacerbations, improve FEV1, symptoms and quality of life compared to ICS/LABA, including, salmeterol/fluticasone combination. Moreover, once-daily dosing may improve adherence.

Estrategias para promover un ambiente académico respetuoso en el ámbito clínico / Strategies to promote a respectful academic environment in the clinical setting

El maltrato, la amenaza, el acoso, la discriminación y la violencia de género en la educación médica son fenómenos generalizados mundialmente y altamente prevalentes. Los comportamientos inapropiados hacia los estudiantes de medicina han sido reconocidos como una amenaza pues interfieren en la construcción de la identidad profesional, el bienestar estudiantil y éxito académico contri-buyendo al agotamiento físico, el desgaste emocional, y el abuso de alcohol y otras sustancias psicoactivas. El impacto negativo de un ambiente jerárquico donde las relaciones de poder pueden tornarse abusivas cambia el enfoque empático y altruista que se espera de un profesional de la salud y perpetúa el maltrato por generaciones. En facultades de medicina de Latinoamérica, la prevalencia de conductas inapropiadas en estudiantes de pregrado y posgrado varía de 17 a 100%, con una importante participación de profesores y residentes como perpetradores del maltrato. Es responsabilidad de los líderes en educación médica enfocar sus esfuerzos pedagó-gicos en formar profesionales humanizados, empáticos y felices en modelos de enseñanza que promuevan la dignidad y los derechos de los estudiantes. La profesión médica debe asumir un papel de liderazgo condenando las conductas inapropiadas y aportando un enfoque de tolerancia cero para todas las formas de intimidación y acoso en el lugar de aprendizaje y de trabajo, así como fomentar la igualdad de oportunidades en la fuerza laboral médica.

Harassment, threatening behaviours, discrimination, and gender-based violence in medical education are global and widespread phe-nomena. Inappropriate behaviours towards medical students have been recognised as a threat to medical education. They interfere with the construction of professional identity, student well-being, and academic success, contributing to physical exhaustion, emotional burnout, and alcohol abuse. The negative impact of a hierarchical environment where abusive power-drive relationships can modify the empathic and altruistic approach expected from a health professional as perpetuates abuse for generations. In Latin American medical schools, the prevalence of inappropriate behaviour in undergraduate and graduate students ranges from 17 to 100%, with professors and residents as perpetrators of misconduct. Focus in medical schools must be based on training empathetic health professionals that embrace the rights of students and human dignity. The medical profession must take a leadership role in condemning inappropriate behaviour and bringing a zero-tolerance approach to all forms of bullying and harassment in hospitals and learning environments, as well as promoting equal opportunity in the medical workforce.

Novel variant in the CNNM2 gene associated with dominant hypomagnesemia.

The maintenance of magnesium (Mg2+) homeostasis is essential for human life. The Cystathionine-ß-synthase (CBS)-pair domain divalent metal cation transport mediators (CNNMs) have been described to be involved in maintaining Mg2+ homeostasis. Among these CNNMs, CNNM2 is expressed in the basolateral membrane of the kidney tubules where it is involved in Mg2+ reabsorption. A total of four patients, two of them with a suspected disorder of calcium metabolism, and two patients with a clinical diagnosis of primary tubulopathy were screened for mutations by Next-Generation Sequencing (NGS). We found one novel likely pathogenic variant in the heterozygous state (c.2384C>A; p.(Ser795*)) in the CNNM2 gene in a family with a suspected disorder of calcium metabolism. In this family, hypomagnesemia was indirectly discovered. Moreover, we observed three novel variants of uncertain significance in heterozygous state in the other three patients (c.557G>C; p.(Ser186Thr), c.778A>T; p.(Ile260Phe), and c.1003G>A; p.(Asp335Asn)). Our study shows the utility of Next-Generation Sequencing in unravelling the genetic origin of rare diseases. In clinical practice, serum Mg2+ should be determined in calcium and PTH-related disorders.

Intervenciones no farmacológicas para la disminución del dolor en cistoscopia / Non-Pharmacological Interventions to Reduce Pain in Cystoscopy

Objetivo Generar una aproximación a las terapias no farmacológicas que disminuyan el dolor durante la realización de la cistoscopia. Métodos Se realizó una búsqueda de la literatura para identificar artículos relevantes con respecto al tópico, utilizando como palabras clave: cistoscopia, dolor, terapia no farmacológica en cistoscopia y terapias alternativas. La búsqueda se hizo a través de Medline y Embase. Se realizó una revisión narrativa. Resultados Aunque la cistoscopia flexible aumenta la tolerancia, especialmente en pacientes masculinos, el dolor sigue siendo inevitable durante la misma. Se han estudiado diferentes intervenciones no farmacológicas orientadas a disminuir el dolor y la ansiedad durante la cistoscopia, entre las que se encuentran: escuchar música, tomar la mano del paciente, ver el procedimiento en tiempo real, el aumento de la presión hidrostática, insuflación con aire y la hipnosis. Conclusión Esas intervenciones podrían ser usadas como adyuvantes en la disminución del dolor y la ansiedad durante la cistoscopia, principalmente la masculina. Sin embargo, se requieren más estudios que comprueben su uso clínico apropiado.

Objective To generate an approach to non-pharmacological therapies that reduce pain during cystoscopy. Methods We searched the literature to identify relevant articles regarding the topic, using as keywords: cystoscopy, pain, non-pharmacological therapy in cystoscopy and alternative therapies. The search was made through Medline and Embase. A narrative review was made. Results Although flexible cystoscopy increases tolerance, especially in male patients, pain remains unavoidable during it. Different non-pharmacological interventions aimed at reducing pain and anxiety during cystoscopy have been studied, among which are: listening to music, taking the patient's hand, seeing the procedure in real time, increasing hydrostatic pressure, insufflation with air and hypnosis. Conclusion These interventions could be used as adjuvants in the reduction of pain and anxiety during cystoscopy, mainly male. However, more studies are required to prove their appropriate clinical use.

Effectiveness of periprostatic block to prevent pain in transrectal prostate biopsy: a systematic review and a network meta-analysis.

INTRODUCTION: The purpose of this study was to determine the effectiveness and harms of periprostatic block compared with other interventions in patients with clinically suspected prostate cancer who underwent transrectal biopsy to diminish pain. MATERIAL AND METHODS: We included only clinical trials which involved male adults older than 18 years-old suspected of having prostate cancer. The intervention performed was a periprostatic block and the comparators were topical anesthetics, sedatives, placebo/no intervention or combined therapies. The primary outcome was perianal or perineal pain and serious adverse effects (SAE). Literature search was conducted in MEDLINE, EMBASE, LILACS, CENTRAL and non-published literature from inception to March 2019. We performed a network meta-analysis in R. RESULTS: We included 43 studies in the meta-analysis. Thirteen studies compared periprostatic block vs. placebo/no intervention (the most frequent). Most of the studies had an unclear risk of bias for selection, performance and detection bias and low risk for attrition, reporting and other bias. Periprostatic block (lidocaine) + intrarectal gel (lidocaine + prilocaine) vs. periprostatic block (lidocaine) showed an RR -0.9 (95%CI - 1.9 to 0.074); intrarectal gel (lidocaine) vs. periprostatic block (lidocaine) had a RR 0.77 (95%CI 0.14 to 1.4); placebo/no intervention vs. periprostatic block (lidocaine) + intrarectal gel (lidocaine+prilocaine) RR 3 (95%CI 1.9 to 4); intrarectal gel (lidocaine) versus periprostatic block (lidocaine) + intrarectal gel (lidocaine + prilocaine) RR 1.7 (95%CI 0.64 to 2.7). CONCLUSIONS: The blockage of the periprostatic plexus in the performance of a transrectal ultrasound-guided prostatic biopsy, alone or in combination with intrarectal analgesia or sedation, is an effective method to reduce pain.

Watershed Vulnerability to Invasive N2-Fixing Autumn Olive and Consequences for Stream Nitrogen Concentrations.

Autumn olive ( Thunb.) is an invasive and exotic N-fixing plant species found throughout the United States. Proliferation and spread of autumn olive have displaced native plants and raised concerns about the effects of N fixation and cycling on water quality in invaded areas. This study investigated the relationship between autumn olive cover and stream N concentrations. Twelve forested watersheds were selected and classified into edge, mid-distance, and interior-of-the-forest watersheds based on autumn olive density and distance from the permanent edge of invasion point along a major road corridor. For the 2012 vegetation survey, autumn olive cover in edge, mid, and interior watersheds ranged from 37 to 61%, 18 to 37%, and 4 to 10%, respectively. From 2006 to 2012, mean stream water NO-N concentration in the edge watersheds was significantly higher (1.39 mg L, < 0.0001) than mid (0.37 mg L) and interior (0.27 mg L) watersheds. A linear relationship was found between NO-N concentration and autumn olive cover ( = 0.72, = 0.0001). Mean stream water NH-N, specific conductivity, and pH were significantly less in the interior watersheds than in the edge watersheds. Additionally, peak specific conductivity and NO-N from edge watersheds coincided with peak stage for these watersheds, demonstrating that N flushing events were driven by surface and shallow subsurface flow pathways proximal to the stream. Results from this study demonstrate how encroachment of autumn olive can influence water quality and transform biogeochemical cycles in natural systems, which points to the need for effective management of autumn olive in the edge watersheds and riparian zones that are vulnerable to invasion and increased N export.

Decreased salivary concentration of CD9 and CD81 exosome-related tetraspanins may be associated with the periodontal clinical status.

AIM: This cross-sectional case-control study was designed to determine the association of the salivary concentration of CD9/CD81 exosome-related tetraspanins with the periodontal clinical status. MATERIALS AND METHODS: Saliva samples from 104 periodontitis patients and 45 healthy controls were collected. Periodontal status was assessed based on full-mouth clinico-radiographical data, and salivary concentration of the analytes was calculated by ELISA. The association between the biomarkers with disease status was analysed using multivariate binary logistic regression models. RESULTS: Significantly decreased salivary levels of CD9 and CD81 exosomes were detected in periodontitis patients in comparison with healthy controls. Also, negative significant correlations between salivary concentrations of CD9/CD81 exosomes regarding clinical measurements were observed. Likewise, a significant downward trend of the concentration of these two biomarkers concerning the stage and grade of disease could be identified. Logistic regression analyses revealed a strong/independent association for decreased salivary concentration of CD81 exosomes regarding disease status. Confounding and interaction effects between age and salivary concentration of CD9 exosomes were also noted. CONCLUSION: Reduced salivary concentration of CD9/CD81 exosomes might be of significance in the context of periodontal disease pathogenesis.

An On-Site Thermoelectric Cooling Device for Cryotherapy and Control of Skin Blood Flow.

Cryotherapy involves the surface application of low temperatures to enhance the healing of soft tissue injuries. Typical devices embody a remote source of chilled water that is pumped through a circulation bladder placed on the treatment site. In contrast, the present device uses thermoelectric refrigeration modules to bring the cooling source directly to the tissue to be treated, thereby achieving significant improvements in control of therapeutic temperature while having a reduced size and weight. A prototype system was applied to test an oscillating cooling and heating protocol for efficacy in regulating skin blood perfusion in the treatment area. Data on 12 human subjects indicate that thermoelectric coolers (TECs) delivered significant and sustainable changes in perfusion for both heating (increase by (±SE) 173.0 ± 66.0%, P < 0.005) and cooling (decrease by (±SE) 57.7 ± 4.2%, P < 0.0005), thus supporting the feasibility of a TEC-based device for cryotherapy with local temperature regulation.

Caracterización de la población pediátrica con displasia del desarrollo de cadera en el Hospital Infantil Universitario Rafael Henao Toro de la ciudad de Manizales, Colombia. 2004-2011 / Characterization of pediatric population with developmental dysplasia of the hip in The Children of the Rafael Henao Toro Hospital of Manizales city, Colombia. 2004-2011

Objetivo: Caracterizar los pacientes con displasia de cadera atendidos en el Hospital Infantil Universitario de la ciudad de Manizales (Caldas, Colombia) entre los años 2004 y 2011. Materiales y métodos: Estudio de corte trasversal. Se estudiaron 198 pacientes pediátricos. Se tomaron variables asociadas a esta patología y se revisaron historias clínicas. Resultados: Se encontró que la cadera izquierda, presentó una proporción de 35,6%; hiperlaxos 31,9%, 3,1% embarazo gemelar, pliegues asimétricos 61,6% en la cadera luxada. Maniobra de Ortolani negativa en 47,1%,maniobra de Barlow negativa en 53,3% teniendo en cuenta que las maniobras se realizan antes de los 3 meses. Edad promedio de diagnóstico 16,56 meses, género femenino 75,6% de los casos, por cesárea el 33,5%, madres primigestantes 53,8%, antecedentes familiares de displasia del desarrollo de la cadera 20,9% de los casos, parto en presentación podálica 29,7%. El 71,2% son de área urbana, 98,2% de raza mestiza. Se encontró relación significativa entre las variables asociadas a DDC, cargar al niño envuelto, procedencia urbana, historia familiar de DDC, uso de caminadores y variables propias de la DDC como afectación en ambas caderas, hiperlaxitud ligamentosa, maniobra de Ortolani negativa y presencia de parálisis cerebral como condición especial de cadera paralitica y no como factor de riesgo. Conclusión: Este estudio concuerda con otros ya realizados, lo que podría indicar que la DDC en Caldas se presenta en pacientes cuyos perfiles se asocian a factores de riesgo señalados por varios autores en otras investigaciones...

La acidosis tubular renal distal: una enfermedad hereditaria en la que no se pueden eliminar los hidrogeniones / Distal renal tubular acidosis: a hereditary disease with an inadequate urinary H+ excretion

La acidosis tubular renal distal (ATRD) o ATR tipo I se caracteriza por una disminución en la excreción urinaria de los hidrogeniones H+ y del amonio. En los niños afectados por ATRD hay retraso en el crecimiento, vómito, estreñimiento, falta de apetito, polidipsia y poliuria, nefrocalcinosis, debilidad y hasta parálisis muscular por la hipopotasemia. En este trabajo se resumen los avances en el estudio genético de la ATRD en las poblaciones hasta ahora estudiadas. La ATRD es heterogénea, por lo que también se analizan los transportadores y canales iónicos que se han identificado hasta ahora en las células intercaladas alfa del túbulo colector, y que podrían explicar los casos de ATRD que no se asocian con los genes hasta ahora estudiados. La ATRD puede ser autosómica dominante o autosómica recesiva. La ATRD autosómica recesiva se manifiesta en los primeros meses de vida, cursa con nefrocalcinosis y sordera temprana o tardía. La ATRD autosómica dominante es menos severa y aparece en la adolescencia o en la etapa adulta, y puede o no presentar nefrocalcinosis. En las células intercaladas alfa de los túbulos colectores se lleva a cabo la excreción urinaria de la carga ácida: los ácidos titulables (fosfatos) y el amonio. La ATRD autosómica recesiva se asocia con mutaciones en los genes ATP6V1B1, ATP6V0A4 y SLC4A1, los cuales codifican las subunidades a4 y B1 de la V-ATPasa y el intercambiador de bicarbonato/cloruro AE1, respectivamente. En contraste, la ATRD autosómica dominante se relaciona con mutaciones solo en AE1 (AU)

Distal renal tubular acidosis (dRTA) or RTA type I is characterised by reduced H+ hydrogen ions and ammonium urinary excretion. In children affected by dRTA there is stunted growth, vomiting, constipation, loss of appetite, polydipsia and polyuria, nephrocalcinosis, weakness and muscle paralysis due to hypokalaemia. This work summarises progress made in dRTA genetic studies in populations studied so far. DRTA is heterogeneous and as such, transporters and ion channels are analysed which have been identified in alpha-intercalated cells of the collecting duct, which could explain cases of dRTA not associated with the hitherto studied genes. DRTA can be autosomal dominant or autosomal recessive. Autosomal recessive dRTA appears in the first months of life and progresses with nephrocalcinosis and early or late hearing loss. Autosomal dominant dRTA is less severe and appears during adolescence or adulthood and may or may not develop nephrocalcinosis. In alpha-intercalated cells of the collecting duct, the acid load is deposited into the urine as titratable acids (phosphates) and ammonium. Autosomal recessive dRTA is associated with mutations in genes ATP6V1B1, ATP6V0A4 and SLC4A1, which encode subunits a4 and B1 of V-ATPase and the AE1 bicarbonate/chloride exchanger respectively. By contrast, autosomal dominant dRTA is only related to mutations in AE1 (AU)

Distal renal tubular acidosis: a hereditary disease with an inadequate urinary H⁺ excretion.

Distal renal tubular acidosis (dRTA) or RTA type I is characterised by reduced H+ hydrogen ions and ammonium urinary excretion. In children affected by dRTA there is stunted growth, vomiting, constipation, loss of appetite, polydipsia and polyuria, nephrocalcinosis, weakness and muscle paralysis due to hypokalaemia. This work summarises progress made in dRTA genetic studies in populations studied so far. DRTA is heterogeneous and as such, transporters and ion channels are analysed which have been identified in alpha-intercalated cells of the collecting duct, which could explain cases of dRTA not associated with the hitherto studied genes. DRTA can be autosomal dominant or autosomal recessive. Autosomal recessive dRTA appears in the first months of life and progresses with nephrocalcinosis and early or late hearing loss. Autosomal dominant dRTA is less severe and appears during adolescence or adulthood and may or may not develop nephrocalcinosis. In alpha-intercalated cells of the collecting duct, the acid load is deposited into the urine as titratable acids (phosphates) and ammonium. Autosomal recessive dRTA is associated with mutations in genes ATP6V1B1, ATP6V0A4 and SLC4A1, which encode subunits a4 and B1 of V-ATPase and the AE1 bicarbonate/chloride exchanger respectively. By contrast, autosomal dominant dRTA is only related to mutations in AE1.

Ausência congênita do pericárdio / Congenital absence of the pericardium

Apresentamos um relato de caso no qual o diagnóstico de ausência congênita do pericárdio (ACP) foi, inicialmente, suspeito na análise ecocardiográfica bidimensional, devido à presença do ápice posterior deslocado na janela das quatro câmaras na direção da linha axilar média. Posteriormente, o diagnóstico foi confirmado por um raio-x do tórax, ressonância magnética e tomografia computadorizada do tórax.

We report a case in which the diagnosis of congenital absence of the pericardium (ACP) was initially suspected in two-dimensional echocardiographic analysis due to the presence of the apex later moved in the window of the four chambers in the direction of the midaxillary line. Subsequently, the diagnosis was confirmed by a chest x-ray, magnetic resonance imaging and computed tomography.

RenalTube: a network tool for clinical and genetic diagnosis of primary tubulopathies.

UNLABELLED: The main purpose was to build a database while facilitating access to genotyping in order to improve the clinical and molecular knowledge of primary tubulopathies. Three tertiary referral centers of Spain collect clinical data through the site http://www.renaltube.com , while offering the analysis of 22 genes corresponding to 23 primary tubulopathies. There are three ways of collaboration: option 1 consists of adding patients to the database with clinical and biochemical information and requesting for genetic study, option 2 requires the payment of a fee for genetic analysis exclusively, and option 3 allows the enrollment of patients with a previously confirmed mutation. After 2 years of activity, RenalTube has collected data from 222 patients, the majority from Spain and Latin America (85.3 %). The most common tubulopathies are distal renal tubular acidosis (22.5 %) and classical Bartter syndrome (19.3 %) followed by familial hypomagnesemia with hypercalciuria and nephrocalcinosis (15.7 %) and Gitelman syndrome (15 %). Option 1 is the collaborating method preferred by doctors (62.3 %) followed by option 3 (36.3 %). CONCLUSION: RenalTube is a network-based registry that can be easily reached and filled out worldwide. A web-based approach with a multilateral collaboration scheme enhances the recruitment of data and promotes the understanding of underlying mechanisms of rare inherited diseases, defines more accurate diagnostic and follow-up criteria, develops new molecular techniques and will improve the overall care of the patients.