Angiotensin II receptor agonist antibodies are associated with microvascular damage in lupus nephritis.

Angiotensin II type 1 receptor agonist antibodies (AT1R-AAs) have been associated with hypertension, atherosclerosis and vascular inflammation in human diseases. The aim of the study was to evaluate the prevalence of AT1R-AAs in active lupus nephritis (LN) patients and their association with vascular damage. One hundred and seven active LN patients underwent a complete clinical examination, measurement of AT1R-AAs, ambulatory blood pressure monitoring, carotid intima-media thickness measurement and morphometric analysis of subintimal fibrosis and medial hyperplasia of the vessels in the kidney tissue. Plasma AT1R-AAs were positive in 58 (54.2%) patients. The Systemic Lupus Erythematosus Disease Activity Index 2000 (SLEDAI-2K) score, complement C3 and C4 levels and titers of anti-dsDNA antibodies were higher in the group with positive AT1R-AAs compared with those with negative AT1R-AAs. The AT1R-AA titers correlated with anti-dsDNA antibody titers and with complement C3 and C4 serum levels. In the kidney biopsy, the percentage of subintimal fibrosis and the area of medial hyperplasia were greater in the AT1R-AA-positive patients. No differences in arterial pressure, carotid intima-media thickness and response to therapy were detected. In conclusion, AT1R-AAs are prevalent in active LN patients and are associated with histologic features of microvascular damage.

[Slipping rib syndrome in paediatrics: report of 4 cases]. / Síndrome de la costilla deslizante. Serie de 4 casos clínicos.

AIM OF THE STUDY: The slipping rib syndrome (SRS) is an unknown pathology for the pediatric surgeon due to its low incidence in children. The weakness of the costal ligaments allowing an area of rib hypermobility has been postulated recently as the main etiology. It produces an intermittent pain in the lower thorax or upper abdomen that can affect to the daily activities and can be the origin of unspecific chronic pain. METHODS: A retrospective review of patients diagnosed with SRS between october 2012 and march 2017 was performed. Data of demographics, symptoms, imaging studies, surgical findings and long-term follow-up were collected. RESULTS: During this period, 4 patients were diagnosed with SRS. Median age at diagnosis was 13 years (12-15 years) with a mean duration of symptoms of 13 months (12-36 months). In 2 patients the SRS was associated with Costal Dysmorphia (CD). The initial diagnosis was clinical with posterior ultrasound confirmation. Resection of the affected cartilages was performed in 3 patients and after a follow-up of 6 months (3-30 months), they all are painless and refer a good cosmetic result. One patient refused the intervention. CONCLUSIONS: The SRS is an infrequent cause of thoracic pain with an etiology not well understood. The awareness of this disease and its typical presentation can avoid unnecessary studies. The resection of the affected cartilages is a safe and effective treatment.

INTRODUCCION: El síndrome de costilla deslizante (SCD) es una entidad poco frecuente en niños. Se cree que su causa es una debilidad en los ligamentos costales que permite una hipermovilidad de las costillas. Genera un dolor intermitente en la región baja del tórax o alta del abdomen que puede afectar a las actividades de la vida diaria o generar un dolor crónico. MATERIAL Y METODOS: Revisión retrospectiva de SCD entre octubre de 2012 y diciembre de 2017. Se recogió información acerca de los datos demográficos, síntomas, estudios de imagen, hallazgos intraoperatorios, material fotográfico y seguimiento a largo plazo. RESULTADOS: Durante este periodo, 4 pacientes fueron diagnosticados de SCD. La mediana de edad al diagnóstico fue de 13 años (12-15 años) con una duración previa de los síntomas de 13 meses (12-36 meses). En 2 pacientes se asoció una dismorfia costal (DC). El diagnóstico fue clínico con confirmación ecográfica. Se realizó resección de los cartílagos afectos en 3 pacientes con un seguimiento posterior de 6 meses (3-30 meses). Actualmente se encuentran sin dolor y con un resultado estético satisfactorio. Un paciente rechazó la intervención. CONCLUSIONES: El SCD aparece en pacientes preadolescentes que en algunos casos asocian DC. Una exploración física y ecografía enfocada son las claves para un diagnóstico certero. La resección de cartílagos es efectiva a largo plazo.

[Predictive factors of gangrenous post-appendectomy intra-abdominal abscess. A case-control study]. / Factores predictivos de absceso intraabdominal post-apendicectomía gangrenada. Un estudio caso-control.

BACKGROUND: Acute appendicitis is the most frequent surgical urgency in children. Frequently, it can be complicated with an intraabdominal abscess that will require a longer and expensive treatment. Our aim is to know if it is possible to predict this complication before its beginning. MATERIAL AND METHODS: Retrospective case-control study with patients treated between 2011 and 2016, paired according to their own characteristics (age, sex and weight), clinical aspects (symptoms, time of their onset, physical examination) and type of appendicitis (gangrenous). The main variable was the appearance of an intraabdominal abscess in the postoperative period (cases). Univariate and multivariate analysis were performed, with a statistical significance level of p < 0.05. RESULTS: We included 54 cases and 108 controls. The occurrence of intraabdominal abscess was significantly associated with preoperative hyponatremia (p < 0.001), elevated CRP (p < 0.05), appendix perforation (p < 0.001) and wound infection (p < 0.001). The multivariate analysis dismissed the value of the CRP as an abscess predictor but showed association in the other three variables cited before. There was no association with the presence of generalized peritonitis at the intervention or the type of surgical approach. CONCLUSIONS: Appendix perforation, infection of the surgical wound and hyponatremia at diagnosis are predictive factors for the appearance of a postoperative intraabdominal abscess after acute gangrene appendicitis. We believe that early identification would favor the secondary prevention of this complication and the decrease of its morbidity.

OBJETIVOS: La apendicitis aguda es la urgencia quirúrgica más frecuente en niños. En numerosas ocasiones el postoperatorio puede complicarse con un absceso intraabdominal que requerirá un tratamiento más largo y costoso. Nuestro objetivo es conocer si es posible predecir dicha complicación antes de producirse. MATERIAL Y METODOS: Estudio retrospectivo de casos y controles tratados entre 2011 y 2016 y pareados según características del paciente (edad, sexo y peso), cuadro clínico (síntomas, tiempo de evolución, exploración física) y tipo de apendicitis (gangrenada). La variable de agrupación fue la aparición de un absceso intraabdominal en el postoperatorio (casos). Se realizó análisis uni y multivariante, con un nivel de significación estadística p < 0,05. RESULTADOS: Se incluyeron 54 casos y 108 controles. La aparición de absceso intraabdominal se asoció significativamente con la hiponatremia preoperatoria (p < 0,001), la PCR elevada (p < 0,05), la perforación del apéndice (p < 0,001) y la infección de la herida quirúrgica (p < 0,001). El análisis multivariante descartó el valor de la PCR como predictor de absceso pero demostró asociación en las otras tres variables citadas. No se encontró asociación con la presencia de peritonitis generalizada en la intervención o el tipo de abordaje quirúrgico. CONCLUSION: La perforación del apéndice, la infección de la herida quirúrgica y la hiponatremia al diagnóstico son factores predictores de la aparición de un absceso intraabdominal postoperatorio después de una apendicitis aguda gangrenada. Creemos que la identificación precoz favorecería la prevención secundaria de esta complicación y la disminución de su morbilidad.

[Pulmonary lobectomy in children: the sooner the better?] / Lobectomía pulmonar en niños: ¿cuanto antes mejor?

AIM OF THE STUDY: Recommendation of early pulmonary resection in asymptomatic congenital pulmonary airway malformations (CPAMs) is based on the presumed compensatory lung growth during the first months of life. Our aim is to analyze the long-term pulmonary function after lobectomy before and after one year of age using spirometry. METHODS: We performed a retrospective review of children who underwent pulmonary lobectomy for CPAM between 2001 and 2016. Patients who were old enough (>5 years) to carry out a spirometry were included in the study and were divided into 2 groups (surgery before or after 12 months of age). Pulmonary function testing values were considered normal if they were >80% of predicted. MAIN RESULTS: Forty-seven patients underwent pulmonary lobectomy for CPAM, 23 of them met the inclusion criteria and prospectively performed a spirometry. Among them, 7 had surgery before and 16 after one year of age (0.1 vs. 2); being both groups comparable in terms of sex, type of CPAM and surgical approach. Time from surgery until pulmonary function testing was longer in patients who had surgery before one year of age (9.1 vs. 4.6 years, p = 0.003). After correcting results by time from surgery until spirometry, a better FEV1/FVC was found in patients who had surgery after one year of age (90% vs. 77%, p = 0.043). CONCLUSION: Although spirometry may be influenced by many other variables, these preliminary results do not support the current recommendation of performing early lobectomy in CPAMs. Further studies are required in order to resolve the best age to perform pulmonary lobectomy.

INTRODUCCION/OBJETIVO: La resección temprana de las malformaciones pulmonares asintomáticas ofrece el beneficio teórico de optimizar el crecimiento pulmonar compensatorio durante la infancia. El objetivo de este estudio es determinar si la lobectomía antes del año de vida se asocia con mejor función pulmonar a largo plazo. MATERIALES Y METODOS: Revisión de pacientes en los que se realizó lobectomía pulmonar desde 2001, incluyendo los que tenían edad suficiente para realizar una espirometría (>5 años). Fueron divididos en dos grupos: lobectomía antes o después de 12 meses de vida. Los parámetros espirométricos se consideraron normales cuando eran mayores del 80% esperado. RESULTADOS: Veintitrés de los 47 pacientes intervenidos cumplieron los criterios de inclusión. Siete fueron intervenidos antes (0,1 ± 0,4 años) y 16 después del año de vida (2 ± 3,6 años), siendo ambos grupos comparables en sexo, tipo de malformación y abordaje quirúrgico. El tiempo de seguimiento desde la cirugía hasta que se realizó la espirometría fue mayor en los pacientes intervenidos antes del año de vida (9,1 vs. 4,6 años, p = 0,003). Tras corregir los resultados por el tiempo de seguimiento, se objetivó un mejor cociente FEV1/FVC en los pacientes intervenidos después del año de vida (90% vs. 77%, p = 0,043). CONCLUSION: Aunque la espirometría puede estar influenciada por otras variables, los datos de nuestro estudio no apoyan la recomendación actual de realizar resección temprana en las malformaciones pulmonares congénitas asintomáticas. Se necesitan estudios prospectivos con mayor número de pacientes para determinar la mejor edad para realizar la lobectomía.

[Long-term results of the early endoscopic treatment of acquired tracheal-subglottic stenosis: 10 years of experience]. / Resultados a largo plazo del tratamiento endoscópico precoz de las estenosis subglóticas y traqueales adquiridas: 10 años de experiencia.

INTRODUCTION: Acquired stenosis of the airway is a common complication after endotracheal intubation. Endoscopic dilation has been accepted as the treatment of choice in cases detected precociously. Our goal is to know the current status of the patients treated in our hospital with endoscopic dilation in the last 10 years. MATERIAL AND METHODS: Retrospective cohort study of patients with subglottic and tracheal acquired stenosis (STAS) early treated endoscopically with balloon dilation at our center in the last 10 years. Bronchoscopy control at 2 weeks, a month, 3 and 6 months post-dilation were performed and later on depending on the symptoms. RESULTS: 32 patient were treated in the period considered. The median age was 4.5 (3-120) months. There were necessary 2.5 (1-5) dilations per patient. All cases were extubated in the operating room or in the following 24 hours. There were no complications during the procedure. Follow-up time was 6 (1-10) years. Only 1 of the 32 patients have had recurrence of stenosis 2 years after, it was secondary to reintubations due to new surgical interventions; which it was dilated successfully. CONCLUSIONS: Early endoscopic dilation in the acquired airway stenosis is a safe and effective long-term procedure. The results support the use of this technique as a treatment of choice in these patients.

INTRODUCCION: La estenosis adquirida de la vía aérea es una complicación frecuente tras la intubación endotraqueal. La dilatación endoscópica ha sido aceptada como tratamiento de elección en los casos detectados de forma precoz. Nuestro objetivo es conocer el estado actual de los pacientes tratados en nuestro centro mediante dilatación endoscópica en los últimos 10 años. MATERIAL Y METODOS: Estudio de cohorte retrospectivo de pacientes con estenosis subglóticas y traqueales adquiridas (ESTA) tratadas endoscópicamente mediante dilatación con balón en nuestro centro en los últimos 10 años. Se realizaron broncoscopias de control a las 2 semanas, al mes, a los 3 y 6 meses postdilatación y posteriormente en función de la clínica. RESULTADOS: Se trataron 32 pacientes de ESTA de reciente aparición en dicho periodo. La mediana de edad fue de 4,5 (3-120) meses. Fueron necesarias 2,5 (1-5) dilataciones por paciente. Todos los pacientes fueron extubados en quirófano o en las 24 horas siguientes al procedimiento. No hubo complicaciones durante los procedimientos ni durante el postoperatorio. El tiempo de seguimiento fue de 6 (1-10) años. Solo 1 de los 32 pacientes presentó recidiva de la estenosis 2 años después que fue secundaria a reintubaciones por nuevas intervenciones quirúrgicas; la cual se dilató nuevamente. CONCLUSIONES: La dilatación endoscópica precoz en las estenosis adquiridas de la vía aérea es un procedimiento seguro y eficaz a largo plazo. Los resultados avalan el uso de esta técnica como tratamiento de elección en estos pacientes.

Promoting cancer screening among churchgoing Latinas: Fe en Acción/faith in action.

Cancer screening rates among Latinas are generally low, reducing the likelihood of early cancer detection in this population. This article examines the effects of a community intervention (Fe en Acción/Faith in Action) led by community health workers (promotoras) on promoting breast, cervical and colorectal cancer screening among churchgoing Latinas. Sixteen churches were randomly assigned to a cancer screening or a physical activity intervention. We examined cancer knowledge, barriers to screening and self-reported mammography, clinical breast exam, Pap test, fecal occult blood test and sigmoidoscopy or colonoscopy at baseline and 12 months follow-up. Participants were 436 adult Latinas, with 16 promotoras conducting a cancer screening intervention at 8 out of 16 churches. The cancer screening intervention had a significant positive impact on self-reported mammography (OR = 4.64, 95% CI: 2.00-10.75) and breast exams in the last year (OR= 2.82, 95% CI: 1.41-5.57) and corresponding reductions in perceived (87.6%) barriers to breast cancer screening (P < .008). Cervical and colorectal cancer screening did not improve with the intervention. These findings suggest Fe en Acción church-based promotoras had a significant impact on promoting breast cancer screening among Latinas. Colon cancer screening promotion, however, remains a challenge.

[Benefits of magnetic resonance for the study of pectus excavatum in children: initial experience]. / Beneficios de la resonancia magnética para el estudio del pectus excavatum en niños: experiencia inicial.

INTRODUCTION/AIM OF THE STUDY: In patients with PE, cardiovascular alterations ensue as a result of the mediastinum compression caused by sternum impingement and is responsible of many of the symptoms. Anatomical and functional assessment is of the utmost importance for a comprehensive understanding of the disease and an adequate treatment plan. Our aim was to describe the use of magnetic resonance image (MRI) in the study of PE and whether it is comparable to imaging techniques. PATIENTS AND METHODS: A retrospective study of the first 10 patients in which an MRI was performed as part of PE assessment within august 2015-2016. PE indexes were evaluated: Haller, correction, asymmetry, as well as sternal rotation. An analysis of right ventricular function was carried out comparing echocardiogram and MRI. RESULTS: MRI scan on 10 patients showed the following findings: Haller index: inspiration: 3.75 (3.5-7.3) and expiration 4,9 (3.9-10.8), correction index of 24% (5-37%) and a sternal rotation of 12º (0-31º). The cardiovascular study showed a median ejection fraction of the right ventricle (EFRV) of 50% (38-64%), with 9 of the 10 patients under the normal value of 61% (54-71%). Echocardiographic findings underestimated functional alterations in all of the patients. CONCLUSION: This initial study suggests that the use of MRI as a test of choice in the evaluation of PE subject to surgical correction is feasible. Absence of radiation offers the capacity of a complete and dynamic anatomical as well as cardiovascular study.

INTRODUCCION/OBJETIVOS: Las alteraciones cardiovasculares provocadas por la impronta del esternón en el mediastino causan muchos de los síntomas que presentan los pacientes con pectus excavatum (PE). Su estudio anatómico y funcional es fundamental para el entendimiento de la enfermedad y para la elección del tratamiento adecuado. Nuestro objetivo es describir el uso de la resonancia magnética (RM) en el estudio de los pacientes con PE, y si esta prueba es equiparable o superior a otras técnicas de imagen. PACIENTES Y METODOS: Evaluación retrospectiva de los resultados de las primeras 10 RM indicadas en pacientes con PE en el período de octubre 2015-2016. Se analizaron los índices de PE: Haller, corrección, asimetría, así como el grado de rotación esternal. Además se realizó un análisis de la función ventricular derecha mediante ecocardiografía y RM. RESULTADOS: Los 10 pacientes evaluados con RM presentaron: índice de Haller en inspiración de 3,75 (3,5-7,3) y en espiración de 4,9 (3,9-10,8), índice de corrección 24% (5-37%) y rotación esternal 12º (0º-31º). Del estudio cardiovascular destaca una fracción de eyección del ventrículo derecho (FEVD) del 50% (38-64%), con 9 de los pacientes por debajo del valor normal 61% (54-71%). La ecocardiografía infraestimó la alteración funcional en la mayoría de casos, al calificarla de normal en el 100%. CONCLUSION: Este estudio inicial sugiere que el uso de la RM como prueba de elección en la evaluación del PE susceptible de corrección quirúrgica es factible. La ausencia de radicación ofrece la capacidad de un estudio tanto anatómico como cardiovascular completo y dinámico.

[Nissen fundoplication in children under 1 year of age: is age important?] / Funduplicatura de Nissen en niños menores de 1 año: ¿la edad importa?

AIM: Nissen fundoplication (NF) is a procedure with technical difficulties and variable functional prognosis the lower the patient's age is. Our objective is to analyze the peculiarities of this procedure when performed in children under 1 year. MATERIALS AND METHODS: Retrospective study of the NF in our center from 1999 to 2014. We review the differences between children under 1 year of age and the leftover of the series: history, indications, surgical approach and postoperative outcomes. RESULTS: A total of 233 patients (57.1% male) were operated at a median age of 2.3years (1 month-17.31years), of which 82 (35.2%) were younger than 1 year. It Open surgery was performed in 118 patients (86.6% of children under 1 year and 31.1% over 1 year, p <0.05) and laparoscopic in 115. The median follow-up was 3.92 ± 3.24 years. Patients under 1 year had a higher number of comorbidities (91.5% vs 81.5%), respiratory symptoms (76.8% vs 49.7%) and postoperative complications (20.7% vs 9.9% OR = 2.4), with statistically significant differences (p <0.05). There were not differences in the Nissen's failure rate (15.9% vs 8.6%) or the need of reoperation (15.9% vs 7.9%). CONCLUSIONS: Patients under 1 year operated by NF form a group with particular indications and comorbidities. Although the outcomes among these patients are favourable, surgical complications are more frequent than in older children.

INTRODUCCION Y OBJETIVOS: La funduplicatura de Nissen (FN) es un procedimiento que plantea dificultades técnicas y un pronóstico funcional variable cuanto menor es la edad del paciente. Nuestro objetivo es analizar las peculiaridades de esta intervención cuando se realiza a niños menores de 1 año. MATERIAL Y METODOS: Estudio retrospectivo de las FN en nuestro centro de 1999 a 2014. Se evaluaron las diferencias entre menores de 1 año de vida y el resto de la serie en cuanto a antecedentes, indicaciones, abordaje quirúrgico y evolución postoperatoria. RESULTADOS: Un total de 233 pacientes (57,1% varones) fueron intervenidos a una mediana de edad de 2,3 a (1 mes-17,31 a), de los que 82 (35,2%) eran menores de 1 año. La cirugía fue abierta en 118 pacientes (86,6% de los menores de 1 año y 31,1% de los mayores de 1 año, p <0,05) y laparoscópica en 115. La mediana de seguimiento fue de 3,92 años. Los pacientes menores de 1 año presentaron mayor número de comorbilidades (91,5% vs 81,5%), sintomatología respiratoria (76,8% vs 49,7%) y complicaciones postoperatorias (20,7% vs 9,9%, OR=2,4), siendo estas diferencias estadísticamente significativas (p <0,05). No hubo diferencias en cuanto al fallo del Nissen (15,9% vs 8,6%) ni a la necesidad de reintervención (15,9% vs 7,9%). CONCLUSIONES: Los pacientes menores de 1 año operados mediante FN constituyen un grupo con indicaciones y comorbilidades particulares. Aunque los resultados son favorables, las complicaciones quirúrgicas son más frecuentes.

[Intussusception: hospital admission for risk of recurrence or early discharge?] / Invaginación intestinal: ¿alta precoz o ingreso por riesgo de recidiva?

INTRODUCTION/PURPOSE: There is current debate about the need of hospitalization of patients with enema-reduced intussusception. The purpose of this study is to describe intussusception recurrence in a tertiary care children's hospital in order to evaluate the feasibility of ambulatory treatment. PATIENTS AND METHODS: Retrospective review of children diagnosed with intussusception from January 2009 to December 2013, identifying early recurrences as those that occurred between 12-72 hours after successful enema reduction and comparing the results with current literature. RESULTS: A total of 121 children (77 male - 44 female), with a mean age of 18,9±2,7 months and weight of 10,77±0,57 kg (CI 95%) were treated for intussusception. Enema reduction was attempted in 90,7% (n= 88) of the cases, with a success rate of 76,1% (n= 67). Early recurrence rate was 6% (n= 4), without associated complications, which is similar to recent meta-analysis results (5,4%); however, three patients required surgical exploration. Mean length of stay was 2 days for enema-reduced intussusception, which resulted in a total cost of 2,076.67 euro per patient. CONCLUSION: The low recurrence rate and scarce risk of complications suggests that an 8 to 12 hour observation is a feasible alternative to hospital admission, which results in social advantages including family welfare as well as management costs. These results are a starting point for prospective randomized controlled trials comparing both treatment modalities.

INTRODUCCION/OBJETIVO: En la literatura actual existe debate en cuanto a la necesidad de ingresar a los pacientes con invaginación intestinal (II) después de la reducción exitosa mediante enema. El propósito de este estudio es caracterizar la recidiva de las II en nuestro medio para valorar la posibilidad del tratamiento ambulatorio. PACIENTES Y METODOS: Estudio retrospectivo de los niños atendidos por II entre 2009 y 2013 definiendo como recidiva temprana la que ocurre entre las 12-72 horas post-reducción, comparando los resultados con la literatura actual. RESULTADOS: Se trataron 121 niños (77 varones - 44 mujeres), con edad de 18,9±2,7 meses y peso de 10,77±0,57 kg (IC 95%), por II. Se intentó reducción mediante enema en 90,7% (n= 88) de los casos, siendo efectivo en un 76,1% (n= 67). La tasa de recidiva temprana fue del 6% (n= 4), sin complicaciones asociadas, similar a lo referido en estudios de meta-análisis recientes (5,4%); tres precisaron tratamiento quirúrgico. La estancia hospitalaria media es de 2 días para las II tratadas conservadoramente, lo que supuso un gasto promedio de 2.076,67 euros por ingreso. CONCLUSION: Dada la baja tasa de recidiva temprana y escaso riesgo de complicaciones, la observación durante 8-12 horas es una alternativa al ingreso hospitalario, lo que conllevaría ventajas de bienestar socio-familiar y de gestión. Estos resultados sirven como punto de partida para estudios prospectivos randomizados entre ambas modalidades de tratamiento.

Clinical Response to Ingenol Mebutate in Patients With Actinic Keratoses.

Cryotherapy is the most common treatment for actinic keratosis, but its effect is limited to individual lesions. Several topical drugs, however, are available that, in addition to treating individual actinic keratoses, target field cancerization and thereby act on subclinical lesions. Examples are 5-fluorouracil, imiquimod, diclofenac, and ingenol mebutate. We report on 17 patients with actinic keratoses treated with ingenol mebutate and describe our findings on treatment effectiveness, adherence, and tolerance. Complete and partial response rates were 35% and 53%, respectively. Ninety-four percent of patients fully adhered to treatment and 18% developed severe local reactions. Ingenol mebutate is an effective treatment for actinic keratosis. Although it has a similar rate of local reactions to other treatments available for actinic keratosis, its short treatment regimen favors better adherence.

Cardiomyocyte-specific RXFP1 overexpression protects against pressure overload-induced cardiac dysfunction independently of relaxin.

Heart failure (HF) prevalence is rising due to reduced early mortality and demographic change. Relaxin (RLN) mediates protective effects in the cardiovascular system through Relaxin-receptor 1 (RXFP1). Cardiac overexpression of RXFP1 with additional RLN supplementation attenuated HF in the pressure-overload transverse aortic constriction (TAC) model. Here, we hypothesized that robust transgenic RXFP1 overexpression in cardiomyocytes (CM) protects from TAC-induced HF even in the absence of RLN. Hence, transgenic mice with a CM-specific overexpression of human RXFP1 (hRXFP1tg) were generated. Receptor functionality was demonstrated by in vivo hemodynamics, where the administration of RLN induced positive inotropy strictly in hRXFP1tg. An increase in phospholamban-phosphorylation at serine 16 was identified as a molecular correlate. hRXFP1tg were protected from TAC without additional RLN administration, presenting not only less decline in systolic left ventricular (LV) function but also abrogated LV dilation and pulmonary congestion compared to WT mice. Molecularly, transgenic hearts exhibited not only a significantly attenuated fetal and fibrotic gene activation but also demonstrated less fibrotic tissue and CM hypertrophy in histological sections. These protective effects were evident in both sexes. Similar cardioprotective effects of hRXFP1tg were detectable in a RLN-knockout model, suggesting an alternative mechanism of receptor activation through intrinsic activity, alternative endogenous ligands or crosstalk with other receptors. In summary, CM-specific RXFP1 overexpression provides protection against TAC even in the absence of endogenous RLN. This suggests RXFP1 overexpression as a potential therapeutic approach for HF, offering baseline protection with optional RLN supplementation for specific activation.

Nevus oligemicus: a case series.

BACKGROUND: Nevus oligemicus is a functional nevus caused by vasoconstriction of the cutaneous deep vascular plexus, and vasodilatation of vessels of the superficial dermis due to abnormal responses of adrenergic receptors. To the best of our knowledge, only 14 cases in 8 articles were reported in the revised indexed literature. Case report We present five cases of nevus oligemicus in two males and in three female patients. Common characteristics in all patients were overweight and sedentary habits. DISCUSSION: Nevus oligemicus is an uncommon condition characterized by livid and cyanotic patches with localized hypothermia as the key-diagnostic sign. It has been suggested that this entity is probably underdiagnosed, as it is asymptomatic and remains stable in its evolution.

Advances in the diagnosis of drug eruptions.

Drug eruptions affecting the skin or mucosas (toxicoderma) are the most common adverse effects of drugs and represent one of the more common diagnostic challenges for the dermatologist. A better understanding of the pathogenic mechanisms of drug reactions, pharmacogenetics, and pharmacoepidemiology will help us to resolve the main dilemmas and to anticipate and even prevent such reactions. Many drug eruptions are due to T cell-mediated hypersensitivity reactions that can involve activation of different proinflammatory mechanisms, which would explain the varied manifestations. Some aspects defy the classical understanding of antigen processing and presentation. New immunological hypotheses, such as the «p-i concept¼, have been introduced to complement the hapten theory and, at least in part, help to explain why drug reactions tend to affect the skin and why certain viral infections increase the risk of drug eruptions. In this paper we analyze these pathogenic concepts and the role of HLA genes in the susceptibility to certain severe adverse drug reactions, and also examine other advances in the diagnosis of drug eruptions. We briefly discuss a number of recently described reactions to new drugs.

A quality-of-life study of cutaneous lupus erythematosus.

BACKGROUND AND OBJECTIVES: The study of quality of life in patients with skin disorders has become more important in recent decades. In the case of lupus erythematosus, most quality-of-life studies have focused on the systemic form of the disease, with less attention being paid to the cutaneous form. The main objective of this study was to evaluate quality of life in patients with cutaneous lupus erythematosus (CLE) using a dermatology-specific questionnaire: the Dermatology Life Quality Index (DLQI). Our secondary objective was to investigate associations between DLQI scores and other aspects of the disease. MATERIAL AND METHODS: Thirty-six patients with CLE completed the DLQI questionnaire. Other factors assessed were disease severity (measured using the Cutaneous Lupus Erythematosus Disease Area and Severity Index), time since diagnosis, body surface area affected, previous and current treatments, and the presence of criteria for systemic lupus erythematosus (SLE). RESULTS: According to the DLQI, CLE had a moderate, very large, or extremely large effect on quality of life in 50% of the patients analyzed (18/36). No significant associations were found between DLQI scores and disease severity, time since diagnosis, body surface area affected, number, type, or duration of pharmacologic treatments, or the presence or absence of SLE criteria. CONCLUSION: CLE has a significant and lasting effect on patient quality of life. This effect is probably primarily due to multiple factors, including the chronic nature of the disease, the visibility of the lesions, and the fact that they can cause disfigurement.

[Products for hand hygiene and antisepsis: use by health professionals and relationship with hand eczema]. / Productos de higiene y antisepsia de manos: su empleo y relación con el eccema de manos en los profesionales sanitarios.

Hand hygiene is the most important measure for the prevention of nosocomial infection. We describe the different products available for hygiene and antisepsis of the hands and the use of these products in daily practice. Hand hygiene products such as soaps and detergents are a cause of irritant dermatitis in health professionals. This irritation is one of the principal factors affecting their use in clinical practice. Alcohol-based products are better tolerated and less irritant than soap and water; irritation should not therefore be a limiting factor in the use of these products and they are to be recommended in place of soap and water. Informative and continued education programs could increase their use.

Case report: Disease phenotype associated with simultaneous biallelic mutations in ABCA4 and USH2A due to uniparental disomy of chromosome 1.

Inherited retinal diseases (IRDs) represent a spectrum of clinically and genetically heterogeneous disorders. Our study describes an IRD patient carrying ABCA4 and USH2A pathogenic biallelic mutations as a result of paternal uniparental disomy (UPD) in chromosome 1. The proband is a 9-year-old girl born from non-consanguineous parents. Both parents were asymptomatic and denied family history of ocular disease. Clinical history and ophthalmologic examination of the proband were consistent with Stargardt disease. Whispered voice testing disclosed moderate hearing loss. Next-generation sequencing and Sanger sequencing identified pathogenic variants in ABCA4 (c.4926C>G and c.5044_5058del) and USH2A (c.2276G>T). All variants were present homozygously in DNA from the proband and heterozygously in DNA from the father. No variants were found in maternal DNA. Further analysis of single nucleotide polymorphisms confirmed paternal UPD of chromosome 1. This is the first known patient with confirmed UPD for two recessively mutated IRD genes. Our study expands on the genetic heterogeneity of IRDs and highlights the importance of UPD as a mechanism of autosomal recessive disease in non-consanguineous parents. Moreover, a long-term follow-up is essential for the identification of retinal features that may develop as a result of USH2A-related conditions.

[Noninvasive positive pressure ventilation in postoperative period of tracheal surgery]. / Ventilación con presión positiva no invasiva en el postoperatorio de cirugía traqueal.

OBJECTIVES: Reconstructive surgery of the airway often means prolonged periods of intubation during the post-operatory period, increasing the needs for drugs and favoring the appearance of infectious complications. We present an original system of ventilatory support with non-invasive positive pressure ventilation (NIPPV) using in patients subjected to reconstructive surgery of the airway. PATIENTS AND METHODS: A retrospective study in patients undergoing reconstructive procedures of the airway in the year 2009 was carried out. We exclude those treated endoscopically and those who had vascular rings. The positive pressure mechanism used in the Surgery Critical Care Unit was a design made by the unit based on the circuit devised by Mapleson that provides optimum levels of ventilation without need for connection to a respiratory. We analyze the results, postoperatory intubation time, time dependent on NIPPV and medical treatment received. RESULTS: A total of 7 patients (1 Female and 6 Males) with median age of 1.6 (0.1-7.5) years were included. The diagnoses were: 4 subglottic stenosis, 2 had tracheal stenosis and 1 subcarinal stenosis with involvement of both principal bronchioles. The techniques used were: laryngotracheoplasty with costal cartilage graft (4), tracheoplasty with costal cartilage (1) and sliding tracheoplasty (2) with bilateral bronchoplasty in one of them. The mean time of nasotracheal intubation was 3 days, and mean time of NIPPV was 2.3. No patient required reintubation and none had infectious complications. CONCLUSIONS: Ventilatory support by VPPNI allows effective extubation in these patients, it being possible to maintain a safe airway. Infectious complications, frequent in prolonged intubations, were not observed in any of the cases.

[Traumatic diaphragmatic hernia: a vital need for an early diagnosis]. / Hernia diafragmática traumática: necesidad vital de un diagnóstico precoz.

INTRODUCTION: Traumatic diaphragmatic hernia (HDT) is exceptional in children. Its diagnosis is usually delayed for appearing in the context of severe polytrauma. The aim is to analyze our series in relation to the severity scores. PATIENTS AND METHODS: Five patients with HDT are presented. Age, biomechanics, clinical, ISS (injury severity score), ITP (pediatric trauma index), GCS (Glasgow coma scale), RTS (Revised Trauma Score) and treatment were studied. The probability of survival (Ps) was calculated with the TRISS method, Ps = 1/(1 + eb), b = b0 + bl (RTS) + b2 (ISS) + B3 (age). RESULTS: There were two males and three females, mean age was six years old (range = 3-10). Traffic accident was the mechanism of the thoracoabdominal trauma in 80% and one was crushed by garage door. The affected side was right in two cases and left in three. Mean ISS was 41 (range = 32-57), ITP 6 (range = 2-9) and RTS 6.1 (range = 5.1 to 6.9). The main symptom was respiratory. Plain chest radiography was diagnostic in three patients, one by CT scann, and another was a finding at laparotomy. Two had liver herniation, one had tension gastrothorax and two had gastric perforations. All patients underwent surgery through the abdomen. Estimated survival by the TRISS method was respectively 86.6%, 78.2%, 57.2%, 84.7% and 57.1%, while the actual was 100%. One has a severe disability. DISCUSSION: To study the biomechanics and semiology is essential in the early diagnosis of TDH in pediatric polytrauma and suspect it is mandatory prior to realize percutaneous chest procedures. The TRISS method has a great importance to assess the adult polytrauma, but specific scores are needed for children.

[Correction of the complicated pectus excavatum with extracorporeal circulation (ECC) support]. / Corrección del pectus excavatum complicado con apoyo de circulación extracorpórea (CEC).

INTRODUCTION: The most serious complication in surgery of the pectus excavatum is the possible cardiac perforation. After its resolution, it is very likely that the relapse of the excavatum will be more severe due to the intense retrosternal fibrosis generated, involving cardiac structures and fixing them to the sternum. Reintervention requires modifications of the usual techniques and special monitoring due to the increased risk of cardiac and large vessel lesions. We present the case of 2 patients with severe pectus excavatum with a previous attempt for correction with cardiac perforation. CLINICAL CASES: Case 1. A 16 year old male with Haller index 9.9, diagnosed of Ehlers-Danlos syndrome and operated on in neonatal period of cardiac disease, with previous attempt for correction using the Ravitch technique that relapsed and cardiac perforation during it. Case 2. An 11 year old girl, with background of diaphragmatic hernia and cardiac perforation on introducing the Nuss bar at 5 years of age, with Haller index 5.5. Both were operated on under ECC with the collaboration of the Cardiac Surgery Service and cardiac adherences were released after median sternotomy. After it, the Nuss bar was introduced and then sternal closure was performed with reinforced steel wires with titanium plates in the anterior and posterior part. DISCUSSION: The backgrounds of the cardiac approach complicate the intervention for the correction of the pectus excavatum, with a high risk of cardiac trauma. Counting on the support of the cardiac surgery and the ECC, we achieve an adequate control and prediction of the complications

[Eccrine angiomatous hamartoma: a report of 2 cases]. / Hamartoma angiomatoso ecrino: presentación de dos casos.

Eccrine angiomatous hamartoma is a rare, benign tumor characterized by a proliferation of eccrine and vascular structures. We present 2 cases and review the characteristics of this disorder. The first patient was a 33-year-old woman who consulted for a brownish lesion on her back associated with local hyperhidrosis. The second patient was a 25-year-old man with an asymptomatic erythematous lesion on his left palm. In both patients a diagnosis of eccrine angiomatous hamartoma was made based on the histological findings. Eccrine angiomatous hamartoma is usually present at birth or develops during childhood. It is typically a solitary lesion and signs and symptoms can vary; diagnosis is therefore based on histological study. The most common site is on the distal parts of limbs. The lesions tend to be asymptomatic, but there may be associated pain and hyperhidrosis. Treatment is not usually necessary except in cases with persistent symptoms, excessive sweating, or cosmetic concerns.