Effect of paediatric early warning systems (PEWS) implementation on clinical deterioration event mortality among children with cancer in resource-limited hospitals in Latin America: a prospective, multicentre cohort study.

BACKGROUND: Paediatric early warning systems (PEWS) aid in the early identification of clinical deterioration events in children admitted to hospital. We aimed to investigate the effect of PEWS implementation on mortality due to clinical deterioration in children with cancer in 32 resource-limited hospitals across Latin America. METHODS: Proyecto Escala de Valoración de Alerta Temprana (Proyecto EVAT) is a quality improvement collaborative to implement PEWS in hospitals providing childhood cancer care. In this prospective, multicentre cohort study, centres joining Proyecto EVAT and completing PEWS implementation between April 1, 2017, and May 31, 2021, prospectively tracked clinical deterioration events and monthly inpatient-days in children admitted to hospital with cancer. De-identified registry data reported between April 17, 2017, and Nov 30, 2021, from all hospitals were included in analyses; children with limitations on escalation of care were excluded. The primary outcome was clinical deterioration event mortality. Incidence rate ratios (IRRs) were used to compare clinical deterioration event mortality before and after PEWS implementation; multivariable analyses assessed the correlation between clinical deterioration event mortality and centre characteristics. FINDINGS: Between April 1, 2017, and May 31, 2021, 32 paediatric oncology centres from 11 countries in Latin America successfully implemented PEWS through Proyecto EVAT; these centres documented 2020 clinical deterioration events in 1651 patients over 556 400 inpatient-days. Overall clinical deterioration event mortality was 32·9% (664 of 2020 events). The median age of patients with clinical deterioration events was 8·5 years (IQR 3·9-13·2), and 1095 (54·2%) of 2020 clinical deterioration events were reported in male patients; data on race or ethnicity were not collected. Data were reported per centre for a median of 12 months (IQR 10-13) before PEWS implementation and 18 months (16-18) after PEWS implementation. The mortality rate due to a clinical deterioration event was 1·33 events per 1000 patient-days before PEWS implementation and 1·09 events per 1000 patient-days after PEWS implementation (IRR 0·82 [95% CI 0·69-0·97]; p=0·021). In the multivariable analysis of centre characteristics, higher clinical deterioration event mortality rates before PEWS implementation (IRR 1·32 [95% CI 1·22-1·43]; p<0·0001), being a teaching hospital (1·18 [1·09-1·27]; p<0·0001), not having a separate paediatric haematology-oncology unit (1·38 [1·21-1·57]; p<0·0001), and having fewer PEWS omissions (0·95 [0·92-0·99]; p=0·0091) were associated with a greater reduction in clinical deterioration event mortality after PEWS implementation; no association was found with country income level (IRR 0·86 [95% CI 0·68-1·09]; p=0·22) or clinical deterioration event rates before PEWS implementation (1·04 [0·97-1·12]; p=0·29). INTERPRETATION: PEWS implementation was associated with reduced clinical deterioration event mortality in paediatric patients with cancer across 32 resource-limited hospitals in Latin America. These data support the use of PEWS as an effective evidence-based intervention to reduce disparities in global survival for children with cancer. FUNDING: American Lebanese Syrian Associated Charities, US National Institutes of Health, and Conquer Cancer Foundation. TRANSLATIONS: For the Spanish and Portuguese translations of the abstract see Supplementary Materials section.

Model for regional collaboration: Successful strategy to implement a pediatric early warning system in 36 pediatric oncology centers in Latin America.

BACKGROUND: Pediatric early warning systems (PEWS) aid in the early identification of deterioration in hospitalized children with cancer; however, they are under-used in resource-limited settings. The authors use the knowledge-to-action framework to describe the implementation strategy for Proyecto Escala de Valoracion de Alerta Temprana (EVAT), a multicenter quality-improvement collaborative, to scale-up PEWS in pediatric oncology centers in Latin America. METHODS: Proyecto EVAT mentored participating centers through an adaptable implementation strategy to: (1) monitor clinical deterioration in children with cancer, (2) contextually adapt PEWS, (3) assess barriers to using PEWS, (4) pilot and implement PEWS, (5) monitor the use of PEWS, (6) evaluate outcomes, and (7) sustain PEWS. The implementation outcomes assessed included the quality of PEWS use, the time required for implementation, and global program impact. RESULTS: From April 2017 to October 2021, 36 diverse Proyecto EVAT hospitals from 13 countries in Latin America collectively managing more than 4100 annual new pediatric cancer diagnoses successfully implemented PEWS. The time to complete all program phases varied among centers, averaging 7 months (range, 3-13 months) from PEWS pilot to implementation completion. All centers ultimately implemented PEWS and maintained high-quality PEWS use for up to 18 months after implementation. Across the 36 centers, more than 11,100 clinicians were trained in PEWS, and more than 41,000 pediatric hospital admissions had PEWS used in their care. CONCLUSIONS: Evidence-based interventions like PEWS can be successfully scaled-up regionally basis using a systematic approach that includes a collaborative network, an adaptable implementation strategy, and regional mentorship. Lessons learned can guide future programs to promote the widespread adoption of effective interventions and reduce global disparities in childhood cancer outcomes. LAY SUMMARY: Pediatric early warning systems (PEWS) are clinical tools used to identify deterioration in hospitalized children with cancer; however, implementation challenges limit their use in resource-limited settings. Proyecto EVAT is a multicenter quality-improvement collaborative to implement PEWS in 36 pediatric oncology centers in Latin America. This is the first multicenter, multinational study reporting a successful implementation strategy (Proyecto EVAT) to regionally scale-up PEWS. The lessons learned from Proyecto EVAT can inform future programs to promote the adoption of clinical interventions to globally improve childhood cancer outcomes.

Bipolar multiplex families have an increased burden of common risk variants for psychiatric disorders.

Multiplex families with a high prevalence of a psychiatric disorder are often examined to identify rare genetic variants with large effect sizes. In the present study, we analysed whether the risk for bipolar disorder (BD) in BD multiplex families is influenced by common genetic variants. Furthermore, we investigated whether this risk is conferred mainly by BD-specific risk variants or by variants also associated with the susceptibility to schizophrenia or major depression. In total, 395 individuals from 33 Andalusian BD multiplex families (166 BD, 78 major depressive disorder, 151 unaffected) as well as 438 subjects from an independent, BD case/control cohort (161 unrelated BD, 277 unrelated controls) were analysed. Polygenic risk scores (PRS) for BD, schizophrenia (SCZ), and major depression were calculated and compared between the cohorts. Both the familial BD cases and unaffected family members had higher PRS for all three psychiatric disorders than the independent controls, with BD and SCZ being significant after correction for multiple testing, suggesting a high baseline risk for several psychiatric disorders in the families. Moreover, familial BD cases showed significantly higher BD PRS than unaffected family members and unrelated BD cases. A plausible hypothesis is that, in multiplex families with a general increase in risk for psychiatric disease, BD development is attributable to a high burden of common variants that confer a specific risk for BD. The present analyses demonstrated that common genetic risk variants for psychiatric disorders are likely to contribute to the high incidence of affective psychiatric disorders in the multiplex families. However, the PRS explained only part of the observed phenotypic variance, and rare variants might have also contributed to disease development.

Clinical and organizational risk factors for mortality during deterioration events among pediatric oncology patients in Latin America: A multicenter prospective cohort.

BACKGROUND: Hospitalized pediatric hematology-oncology (PHO) patients have frequent clinical deterioration events (CDE) requiring intensive care unit (ICU) admission, particularly in resource-limited settings. The objective of this study was to describe CDEs in hospitalized PHO patients in Latin America and to identify event-level and center-level risk factors for mortality. METHODS: In 2017, the authors implemented a prospective registry of CDEs, defined as unplanned transfers to a higher level of care, use of ICU-level interventions on the floor, or nonpalliative floor deaths, in 16 PHO centers in 10 countries. PHO hospital admissions and hospital inpatient days were also reported. This study analyzes the first year of registry data (June 2017 to May 2018). RESULTS: Among 16 centers, 553 CDEs were reported in PHO patients during 11,536 admissions and 119,414 inpatient days (4.63 per 1000 inpatient days). Event mortality was 29% (1.33 per 1000 inpatient days) but ranged widely across centers (11%-79% or 0.36-5.80 per 1000 inpatient days). Significant risk factors for event mortality included requiring any ICU-level intervention on the floor and not being transferred to a higher level of care. Events with organ dysfunction, a higher severity of illness, and a requirement for ICU intervention had higher mortality. In center-level analysis, hospitals with a higher volume of PHO patients, less floor use of ICU intervention, lower severity of illness on transfer, and lower rates of floor cardiopulmonary arrest had lower event mortality. CONCLUSIONS: Hospitalized PHO patients who experience CDEs in resource-limited settings frequently require floor-based ICU interventions and have high mortality. Modifiable hospital practices around the escalation of care for these high-risk patients may contribute to poor outcomes. Earlier recognition of critical illness and timely ICU transfer may improve survival in hospitalized children with cancer.

A Low-Cost Active Reflector for Interferometric Monitoring Based on Sentinel-1 SAR Images.

The effectiveness of radar interferometric techniques in non-urban areas can often be compromised due to the lack of stable natural targets. This drawback can be partially compensated through the installation of reference targets, characterized by a bright and stable radar response. The installation of passive corner reflectors (PCR) often represents a valid aid, but these objects are usually cumbersome, and suffer from severe weather conditions; furthermore, the installation of a PCR can be difficult and costly, especially in places with hard accessibility. Active reflectors (AR) represent a less cumbersome alternative to PCRs, while still providing a stable phase response. This paper describes the design, implementation, and test of an AR prototype, designed to operate with the Sentinel-1 synthetic aperture radar (SAR), aimed at providing a fair performance/cost benefit. These characteristics, obtained through a tradeoff between the use of off-the-shelf components and a simple architecture, can make the setup of a dense network (i.e., tens of devices) in the monitored areas feasible. The paper reports the design, implementation, and the analysis of different tests carried out in a laboratory, and in a real condition in the field, to illustrate AR reliability and estimate its phase stability.

Connecting Clinical Capacity and Intervention Sustainability in Resource-Variable Pediatric Oncology Centers in Latin America.

Clinical capacity for sustainability, or the clinical resources needed to sustain an evidence-based practice, represent proximal determinants that contribute to intervention sustainment. We examine the relationship between clinical capacity for sustainability and sustainment of PEWS, an evidence-based intervention to improve outcomes for pediatric oncology patients in resource-variable hospitals. We conducted a cross-sectional survey among Latin American pediatric oncology centers participating in Proyecto Escala de Valoración de Alerta Temprana (EVAT), an improvement collaborative to implement Pediatric Early Warning Systems (PEWS). Hospitals were eligible if they had completed PEWS implementation. Clinicians were eligible to participate if they were involved in PEWS implementation or used PEWS in clinical work. The Spanish language survey consisted of 56 close and open-ended questions about the respondent, hospital, participants' assessment of clinical capacity to sustain PEWS using the clinical sustainability assessment tool (CSAT), and perceptions about PEWS and its use as an intervention. Results were analyzed using a multi-level modeling approach to examine the relationship between individual, hospital, intervention, and clinical capacity determinants to PEWS sustainment. A total of 797 responses from 37 centers in 13 countries were included in the analysis. Eighty-seven percent of participants reported PEWS sustainment. After controlling for individual, hospital, and intervention factors, clinical capacity was significantly associated with PEWS sustainment (OR 3.27, p < .01). Marginal effects from the final model indicate that an increasing capacity score has a positive influence (11% for every additional CSAT point) of predicting PEWS sustainment. PEWS is a sustainable intervention and clinical capacity to sustain PEWS contributes meaningfully to PEWS sustainment.

Clinical and genetic differences between bipolar disorder type 1 and 2 in multiplex families.

The two major subtypes of bipolar disorder (BD), BD-I and BD-II, are distinguished based on the presence of manic or hypomanic episodes. Historically, BD-II was perceived as a less severe form of BD-I. Recent research has challenged this concept of a severity continuum. Studies in large samples of unrelated patients have described clinical and genetic differences between the subtypes. Besides an increased schizophrenia polygenic risk load in BD-I, these studies also observed an increased depression risk load in BD-II patients. The present study assessed whether such clinical and genetic differences are also found in BD patients from multiplex families, which exhibit reduced genetic and environmental heterogeneity. Comparing 252 BD-I and 75 BD-II patients from the Andalusian Bipolar Family (ABiF) study, the clinical course, symptoms during depressive and manic episodes, and psychiatric comorbidities were analyzed. Furthermore, polygenic risk scores (PRS) for BD, schizophrenia, and depression were assessed. BD-I patients not only suffered from more severe symptoms during manic episodes but also more frequently showed incapacity during depressive episodes. A higher BD PRS was significantly associated with suicidal ideation. Moreover, BD-I cases exhibited lower depression PRS. In line with a severity continuum from BD-II to BD-I, our results link BD-I to a more pronounced clinical presentation in both mania and depression and indicate that the polygenic risk load of BD predisposes to more severe disorder characteristics. Nevertheless, our results suggest that the genetic risk burden for depression also shapes disorder presentation and increases the likelihood of BD-II subtype development.

Whole-exome sequencing of 81 individuals from 27 multiply affected bipolar disorder families.

Bipolar disorder (BD) is a highly heritable neuropsychiatric disease characterized by recurrent episodes of depression and mania. Research suggests that the cumulative impact of common alleles explains 25-38% of phenotypic variance, and that rare variants may contribute to BD susceptibility. To identify rare, high-penetrance susceptibility variants for BD, whole-exome sequencing (WES) was performed in three affected individuals from each of 27 multiply affected families from Spain and Germany. WES identified 378 rare, non-synonymous, and potentially functional variants. These spanned 368 genes, and were carried by all three affected members in at least one family. Eight of the 368 genes harbored rare variants that were implicated in at least two independent families. In an extended segregation analysis involving additional family members, five of these eight genes harbored variants showing full or nearly full cosegregation with BD. These included the brain-expressed genes RGS12 and NCKAP5, which were considered the most promising BD candidates on the basis of independent evidence. Gene enrichment analysis for all 368 genes revealed significant enrichment for four pathways, including genes reported in de novo studies of autism (padj < 0.006) and schizophrenia (padj = 0.015). These results suggest a possible genetic overlap with BD for autism and schizophrenia at the rare-sequence-variant level. The present study implicates novel candidate genes for BD development, and may contribute to an improved understanding of the biological basis of this common and often devastating disease.

The Use of Aspirin to Reduce the Risk of Thrombotic Events in Patients With End-Stage Renal Disease: Protocol for a Randomized Controlled Trial.

BACKGROUND: End-stage renal disease (ESRD) is the last stage of chronic kidney disease, mainly caused by type 2 diabetes mellitus and characterized by an increased mortality risk related to cardiovascular disease. Low-dose aspirin (acetylsalicylic acid or ASA) seems to effectively prevent cardiovascular events in patients with ESRD. However, the number of interventional studies in this population remains limited and the mechanisms of aspirin-related bleeding remain poorly understood. Aspirin's efficacy and safety may be modified by the presence of type 2 diabetes mellitus or platelet hyperreactivity. OBJECTIVE: The overall objective of this protocol is to (1) evaluate aspirin's safety and efficacy in reducing the risk of thrombotic events in patients with ESRD on hemodialysis and (2) examine whether aspirin's efficacy is modified by the presence of type 2 diabetes mellitus or platelet hyperreactivity. Specifically, the primary objective is to compare the 12-month rate of any thrombotic event (cardiac death, nonfatal myocardial infarction, nonfatal stroke, arteriovenous fistula thrombosis) and Thrombolysis in Myocardial Infarction (TIMI) major bleeding in patients treated with aspirin compared to those on placebo. Secondary objectives are to test for effect modification of treatment by the presence of type 2 diabetes mellitus or platelet hyperreactivity and compare the rate of TIMI minor bleeding between treatment groups. METHODS: We developed a protocol for a phase 2 randomized, single-center, placebo-controlled, triple-blind, superiority clinical trial to assess the prophylactic efficacy and safety of aspirin in patients with ESRD and on hemodialysis. It follows the ethical principles of the Declaration of Helsinki of the World Medical Association. A total of 342 participants would be enrolled over 12 months at a large dialysis center. Patients will be randomized in a 1:1 ratio and stratified by presence of type 2 diabetes mellitus and platelet hyperreactivity to receive either oral aspirin (100 mg/d) or placebo for a treatment period of 12 months. An intention-to-treat statistical analysis will be performed. RESULTS: The randomized clinical trial will be performed after approval by the ethical committee of the participating center and registration at ClinicalTrials.gov. CONCLUSIONS: We provide a protocol for a randomized controlled trial to evaluate the safety and efficacy of treatment with aspirin to reduce the risk of thrombotic events. In addition, such a study would further our understanding of the mechanism of aspirin-related bleeding and help identify subgroups of best-responders and patients with a higher risk of adverse events. REGISTERED REPORT IDENTIFIER: RR1-10.2196/10516.

The Andalusian Bipolar Family (ABiF) Study: Protocol and sample description. / El estudio Andalusian Bipolar Family (ABiF): protocolo y descripción de la muestra.

INTRODUCTION: Here, we present the first description of the Andalusian Bipolar Family (ABiF) Study. This longitudinal investigation of families from Andalusia, Spain commenced in 1997 with the aim of elucidating the molecular genetic causes of bipolar affective disorder. The cohort has since contributed to a number of key genetic findings, as reported in international journals. However, insight into the genetic underpinnings of the disorder in these families remains limited. METHOD: In the initial 1997-2003 study phase, 100 multiplex bipolar disorder and other mood disorder families were recruited. The ongoing second phase of the project commenced in 2013, and involves follow-up of a subgroup of the originally recruited families. The aim of the follow-up investigation is to generate: i) longitudinal clinical data; ii) results from detailed neuropsychological assessments; and iii) a more extensive collection of biomaterials for future molecular biological studies. RESULTS: The ABiF Study will thus generate a valuable resource for future investigations into the aetiology of bipolar affective disorder; in particular the causes of high disease loading within multiply affected families. DISCUSSION: We discuss the value of this approach in terms of new technologies for the identification of high-penetrance genetic factors. These new technologies include exome and whole genome sequencing, and the use of induced pluripotent stem cells or model organisms to determine functional consequences.

El estudio Andalusian Bipolar Family (ABiF): protocolo y descripción de la muestra / The Andalusian Bipolar Family (ABiF) Study: Protocol and sample description

Introducción: Se presenta la primera descripción del estudio denominado Andalusian Bipolar Family (ABiF). Se trata de una investigación longitudinal con familias procedentes de Andalucía (España), que comenzó en 1997, con el objetivo de dilucidar las causas geneticomoleculares del trastorno afectivo bipolar. Desde entonces, esta cohorte ha contribuido a una serie de hallazgos clave, que han sido publicados en revistas internacionales. Sin embargo, el conocimiento sobre las bases genéticas del trastorno en estas familias sigue siendo limitado. Método: El estudio consta de dos fases: en la fase inicial se reclutaron 100 familias con múltiples afectados de trastorno bipolar y otros trastornos del ánimo. La segunda fase del proyecto, actualmente en curso, comenzó en 2013 con el objetivo de realizar un seguimiento de la cohorte de familias reclutadas originalmente. Los objetivos del estudio de seguimiento son: I) recoger nuevos datos clínicos longitudinales; II) realizar una evaluación neuropsicológica detallada, y III) obtener una extensa colección de biomateriales para futuros estudios moleculares. Resultados: El estudio ABiF, por tanto, generará unos recursos valiosos para futuras investigaciones sobre la etiología del trastorno afectivo bipolar; particularmente con respecto a las causas de la alta carga genética del trastorno en las familias con múltiples afectados. Discusión: Se discute el valor de este enfoque en relación con las nuevas tecnologías para la identificación de factores genéticos de alta penetrancia. Estas nuevas tecnologías incluyen la secuenciación del exoma y del genoma completo, y el uso de células madre pluripotentes inducidas u organismos modelo para la determinación de consecuencias funcionales

Introduction: Here, we present the first description of the Andalusian Bipolar Family (ABiF) Study. This longitudinal investigation of families from Andalusia, Spain commenced in 1997 with the aim of elucidating the molecular genetic causes of bipolar affective disorder. The cohort has since contributed to a number of key genetic findings, as reported in international journals. However, insight into the genetic underpinnings of the disorder in these families remains limited. Method: In the initial 1997-2003 study phase, 100 multiplex bipolar disorder and other mood disorder families were recruited. The ongoing second phase of the project commenced in 2013, and involves follow-up of a subgroup of the originally recruited families. The aim of the follow-up investigation is to generate: I) longitudinal clinical data; II) results from detailed neuropsychological assessments; and III) a more extensive collection of biomaterials for future molecular biological studies. Results: The ABiF Study will thus generate a valuable resource for future investigations into the aetiology of bipolar affective disorder; in particular the causes of high disease loading within multiply affected families. Discussion: We discuss the value of this approach in terms of new technologies for the identification of high-penetrance genetic factors. These new technologies include exome and whole genome sequencing, and the use of induced pluripotent stem cells or model organisms to determine functional consequences

A propósito de un caso de psicosis temprana: un nuevo paradigma en salud mental / About a case of early psychosis: a new paradigm in mental health

La intervención precoz en las fases tempranas de las psicosis ha adquirido una creciente relevancia en los últimos años debido a sus potenciales implicaciones sobre la clínica y la evolución de la enfermedad. Es conocido que tras un primer episodio psicótico hay un "periodo crítico" que se extiende a los cinco años siguientes, siendo esta una fase de alta vulnerabilidad. El abordaje integral e intensivo durante este periodo tiene como finalidad optimizar el proceso de recuperación ayudando al paciente y a su familia a reconstruir sus vidas y evitar recadas. A continuación exponemos la gestión de un caso en un reciente programa de "intervención precoz en psicosis" implementado en nuestra unidad de rehabilitación(AU)

Early intervention in the early phases of psychosis has become increasingly relevant in recent years because of their potential clinical implications for the evolution of the disease. It is known that after a first psychotic episode is a "critical period" that extends to five years, this being a period of high vulnerability. Comprehensive and intensive approach during this period aims at optimizing the recovery process by helping the patient and his family rebuild their lives and prevent relapse. Below are the management of a case in a recent program of "early intervention in psychosis" implemented in our rehabilitation unit(AU)

The first genomewide interaction and locus-heterogeneity linkage scan in bipolar affective disorder: strong evidence of epistatic effects between loci on chromosomes 2q and 6q.

We present the first genomewide interaction and locus-heterogeneity linkage scan in bipolar affective disorder (BPAD), using a large linkage data set (52 families of European descent; 448 participants and 259 affected individuals). Our results provide the strongest interaction evidence between BPAD genes on chromosomes 2q22-q24 and 6q23-q24, which was observed symmetrically in both directions (nonparametric LOD [NPL] scores of 7.55 on 2q and 7.63 on 6q; P<.0001 and P=.0001, respectively, after a genomewide permutation procedure). The second-best BPAD interaction evidence was observed between chromosomes 2q22-q24 and 15q26. Here, we also observed a symmetrical interaction (NPL scores of 6.26 on 2q and 4.59 on 15q; P=.0057 and .0022, respectively). We covered the implicated regions by genotyping additional marker sets and performed a detailed interaction linkage analysis, which narrowed the susceptibility intervals. Although the heterogeneity analysis produced less impressive results (highest NPL score of 3.32) and a less consistent picture, we achieved evidence of locus heterogeneity at chromosomes 2q, 6p, 11p, 13q, and 22q, which was supported by adjacent markers within each region and by previously reported BPAD linkage findings. Our results provide systematic insights in the framework of BPAD epistasis and locus heterogeneity, which should facilitate gene identification by the use of more-comprehensive cloning strategies.

Impacto de la "Ley de promoción de la autonomía personal y atención a las personas en situación de dependencia" en las personas con trastorno mental grave / Impact of the "Law on promotion of personal autonomy and care for people dependent" in population with severe mental disorder

La Ley 39/2006, conocida como Ley de Dependencia, ha generado, desde su aprobación, desconfianza por estar enfocada a la atención a la dependencia, siendo la promoción de la autonomía personal un elemento apenas desarrollado y secundario (AU)

Law 39/2006, known as Dependence Law, has generated skepticism since its approval, for being focused on dependancy and barely promoting personal autonomy, treating it as a secondary issue (AU)

[Cavernous haemangioma as the cause of ureteral pyelic junction obstruction]. / Hemangioma cavernoso como causa de obstrucción ureteropiélica.

OBJECTIVES: To report one case of cavernous haemangioma in the upper urinary tract. METHODS/RESULTS: 29-year-old female presenting with right renal colic whose IVP showed UPJ obstruction. Dismembered pyeloplasty was performed and pathology reported a cavernous haemangioma as the cause of stenosis. CONCLUSIONS: Cavernous haemangioma, a rare upper urinary tract pathology, should be considered in the differential diagnosis of causes of UPJ obstruction.

[Bladder leiomyoma. Report of one case]. / Leiomioma vesical. Presentación de un caso clínico.

OBJECTIVES: To report a new case of bladder leiomyoma. METHODS: We describe the case of a 56-year-old female patient presenting with renal colic who was diognosed of a bladder filling defect after work up with intravenous urography ultrasound and urine cytology. Complete transurethral resection of the lesion was performed. RESULTS: Pathology reported bladder leiomyoma. CONCLUSIONS: Every pathological possibility should be considered in the differential diagnosis and treatment of a filling defect. Bladder leiomyoma is usually an incidental diagnosis on the pathologic report after resection of a bladder tumor.

Genomewide scan and fine-mapping linkage studies in four European samples with bipolar affective disorder suggest a new susceptibility locus on chromosome 1p35-p36 and provides further evidence of loci on chromosome 4q31 and 6q24.

We present the findings of a large linkage study of bipolar affective disorder (BPAD) that involved genomewide analysis of 52 families (448 genotyped individuals) of Spanish, Romany, and Bulgarian descent and further fine mapping of the 1p34-p36, 4q28-q31, and 6q15-q24 regions. An additional sample of 56 German families (280 individuals) was included for this fine-mapping step. The highest nonparametric linkage scores obtained in the fine mapping were 5.49 for 4q31 and 4.87 for 6q24 in the Romany families and 3.97 for 1p35-p36 in the Spanish sample. MOD-score (LOD scores maximized over genetic model parameters) analysis provided significant evidence of linkage to 4q31 and at least borderline significance for the 1p and 6q regions. On the basis of these results and previous positive research findings, 4q31 and 6q24 should now be considered confirmed BPAD susceptibility loci, and 1p35-p36 is proposed as a new putative locus that requires confirmation in replication studies.

Hemangioma cavernoso como causa de obstrucción ureteropiélica / Cavernous haemangioma as the cause of urethral pyelic junction obstruction

OBJETIVO: Presentación de un caso dehemangioma cavernoso situado en el tracto urinario superior.MÉTODO/RESULTADOS: Mujer de 29 años con clínicade crisis renoureteral derecha que tras estudio con UIV seobjetiva estenosis de la unión pieloureteral derecha. Serealiza una pieloplastia desmembrada y se observa queera un hemangioma cavernoso el causante de dicha estenosis.CONCLUSIONES: El hemangioma cavernoso, patologíarara en el tracto urinario superior, tiene que ser consideraradocomo uno de las posibles causas de estenosis de launión pieloureteral

OBJECTIVES: To report one case of cavernous ;;haemangioma in the upper urinary tract. ;;METHODS/RESULTS: 29-year-old female presenting ;;with right renal colic whose IVP showed UPJ obstruction. ;;Dismembered pyeloplasty was performed and pathology ;;reported a cavernous haemangioma as the cause of ;;stenosis. ;;CONCLUSIONS: Cavernous haemangioma, a rare ;;upper urinary tract pathology, should be considered in ;;the differential diagnosis of causes of UPJ obstruction

Leiomioma vesical. Presentación de un caso clínico / Bladder leiomyoma. Report of one case

OBJETIVO: Presentación de un nuevo caso de leiomioma vesical.MÉTODO: Describimos un caso de una paciente de 56 años de edad que tras estudio por crisis renoureteral es diagnosticada de un defecto de repleción vesical tras urografíaintravenosa, ecografía y citología urinaria de micciónespontánea. Sometida a resección biópsica completa de la lesión.RESULTADOS: El estudio anatomopatológico de los fragmentosde la intervención resulta ser el de un leiomioma vesical.CONCLUSIONES: Hemos de considerar todas la posibilidadesanatomopatológicas ante el descubrimiento, estudio y tratamiento de todo defecto de repleción. El leiomioma vesical suele ser de diagnóstico casual tras la resección de tumoración vesical y su estudio anatomopatológico

OBJECTIVES: To report a new case of bladder leiomyoma. ;;METHODS: We describe the case of a 56-year-old female patient presenting with renal colic who was diagnosed of a bladder filling defect after work up with intravenous urography, ultrasound and urine cytology. Complete transurethral ;;resection of the lesion was performed. ;;RESULTS: Pathology reported bladder leiomyoma. ;;CONCLUSIONS: Every pathological possibility should be considered in the differential diagnosis and treatment of a filling defect. Bladder leiomyoma is usually an incidental ;;diagnosis on the pathologic report after resection of a bladder tumor

Carcinoma vesical de células pequeñas (oat cell). Aportación de un caso / Small cell (oat cell) carcinoma of the bladder : A case report

OBJETIVOS: El objetivo de este trabajo es presentar un nuevo caso de carcinoma de células pequeñas (oat cell) primario de vejiga. MÉTODO Y RESULTADOS: Presentamos un paciente de 78 años con cuadro de hematuria monosintomática, RTU biópsica posterior con diagnóstico histopatológico de cáncer de células pequeñas indiferenciado. Quimioterapia neoadyuvante y cirugía ulterior. El paciente falleció a los 6 meses de haber sido intervenido. CONCLUSIONES: Queremos resaltar su comportamiento agresivo independientemente de la terapia aplicada y su asociación con otros componentes carcinomatosos (carcinoma transicional papilar y carcinoma in situ). A pesar de la agresividad del tumor y tras ser tratado con poliquimioterapia CDDP+ VP-16 asociada a cistectomía parcial ulterior, el paciente permaneció asintomático durante un período de 5 meses (AU)

No disponible