Trastornos relacionados con el gen IRF6: a propósito de un caso de síndrome de pterigium poplíteo / Disorders related to the IRF6 gene: A case of popliteal pterygium syndrome

Los trastornos relacionados con mutaciones del gen IRF6, comprenden desde una afectación casi asintomática con la única presencia de hoyuelos labiales que son la manifestación más sutil del síndrome de van der Woude, hasta manifestaciones congénitas graves que incluyen anomalías faciales, musculoesqueléticas y genitourinarias que corresponden al síndrome de pterigium poplíteo. Pese a que existe cierta relación fenotipo-genotipo entre las mutaciones del gen IRF6, estas tienen una penetrancia incompleta y una expresión variable, inter e intrafamiliar

The disorders related to IRF6 encompass a spectrum from an almost asymptomatic affectation, with the only presence of isolated lip pits, which are a mild presentation of van der Woude syndrome, to the presence in the other extreme, of congenital manifestations that include facial anomalies, musculoskeletal and genitourinary malformations, corresponding to popliteal pterygium syndrome. Although there is a certain phenotype-genotype relationship between mutations of the IRF6 gene, such mutations have incomplete penetrance and variable inter-and intra-familial expression

Implante de válvula de Ahmed para el manejo del glaucoma uveítico refractario: seguimiento a largo plazo / Ahmed glaucoma drainage implant surgery in the management of refractory uveitic glaucoma: Long-term follow up

OBJETIVO: Evaluar la eficacia, seguridad y complicaciones a largo plazo del implante de válvula de Ahmed en pacientes con glaucoma uveítico refractario. MÉTODOS: Revisión retrospectiva de casos consecutivos de pacientes con glaucoma uveítico refractario intervenidos mediante un implante de válvula de Ahmed entre los años 2004-2014. Las características demográficas, la agudeza visual, la presión intraocular (PIO), el número de medicamentos antiglaucomatosos y las complicaciones operatorias y postoperatorias fueron registradas. El éxito completo se definió como una PIO ≥ 5 y ≤ 18 mmHg sin medicamentos, y el éxito calificado, como una PIO ≤ 18 mmHg con uno o más medicamentos. Aquellos pacientes con un seguimiento inferior a 12 meses fueron excluidos. RESULTADOS: Veintiún pacientes (26 ojos) fueron incluidos. El seguimiento promedio postoperatorio fue de 53,5 ± 31 meses. Ocho ojos (30%) tuvieron al menos una cirugía de glaucoma fallida previamente. La PIO se redujo de una media de 30 a 14mmHg en la última visita (p < 0,001). El número de medicamentos antiglaucomatosos se redujo de una mediana de 2,9 a 1,1 en la última visita (p < 0,001). Siete ojos (27%) se calificaron como éxito completo, 13 ojos (50%) como éxito calificado y 6 ojos (23%) cumplieron el criterio de falla. La complicación postoperatoria más frecuente fue la fase hipertensiva en 12 ojos (46%). El análisis de supervivencia de Kaplan-Meier mostró una probabilidad acumulada de éxito del 65% a los 84 meses. CONCLUSIONES: La cirugía de implante de drenaje de glaucoma de Ahmed se puede considerar una opción quirúrgica eficaz y segura a largo plazo para los pacientes con glaucoma uveítico refractario

OBJECTIVE: To examine the long-term efficacy, safety and complications of Ahmed glaucoma drainage implant surgery in patients with refractory uveitic glaucoma. METHODS: Retrospective review of consecutive cases of patients with refractory uveitic glaucoma who underwent Ahmed glaucoma drainage implant surgery between 2004-2014. Demographic characteristics of the study population, visual acuity, intraocular pressure (IOP), number of antiglaucoma medications and operative and postoperative complications were recorded. Complete success was defined as IOP ≥ 5 and ≤ 18 mmHg without any medication, as qualified success if IOP ≤ 18 mmHg with one or more medications. Patients with less than 12 months of follow-up were excluded. RESULTS: 21 patients (26 eyes) were included. The mean postoperative follow-up was 53.5 ± 31 months. Eight eyes (30%) had at least one previously failed glaucoma surgery. IOP was reduced from a mean of 30.0mmHg to 14.0mmHg at the last follow-up visit (P < .001). The number of IOP-lowering medications was reduced from a median of 2.9 preoperatively to 1.1 at the last follow-up (P < .001). Overall, 7 eyes (27%) were classified as complete success, 13 eyes (50%) were considered as qualified success, and 6 eyes (23%) met the criteria for failure. The most common postoperative complication was hypertensive phase in 12 eyes (46%). Kaplan-Meier life-table analysis showed a cumulative probability of success after Ahmed glaucoma valve implantation of 65% at 84 months. CONCLUSIONS: Ahmed glaucoma drainage implant surgery may be considered a long-term effective and safety surgical option for patients with refractory uveitic glaucoma

Ahmed glaucoma drainage implant surgery in the management of refractory uveitic glaucoma: Long-term follow up. / Implante de válvula de Ahmed para el manejo del glaucoma uveítico refractario: seguimiento a largo plazo.

OBJECTIVE: To examine the long-term efficacy, safety and complications of Ahmed glaucoma drainage implant surgery in patients with refractory uveitic glaucoma. METHODS: Retrospective review of consecutive cases of patients with refractory uveitic glaucoma who underwent Ahmed glaucoma drainage implant surgery between 2004-2014. Demographic characteristics of the study population, visual acuity, intraocular pressure (IOP), number of antiglaucoma medications and operative and postoperative complications were recorded. Complete success was defined as IOP≥5 and ≤18mmHg without any medication, as qualified success if IOP≤18mmHg with one or more medications. Patients with less than 12 months of follow-up were excluded. RESULTS: 21 patients (26 eyes) were included. The mean postoperative follow-up was 53.5±31 months. Eight eyes (30%) had at least one previously failed glaucoma surgery. IOP was reduced from a mean of 30.0mmHg to 14.0mmHg at the last follow-up visit (P<.001). The number of IOP-lowering medications was reduced from a median of 2.9 preoperatively to 1.1 at the last follow-up (P<.001). Overall, 7 eyes (27%) were classified as complete success, 13 eyes (50%) were considered as qualified success, and 6 eyes (23%) met the criteria for failure. The most common postoperative complication was hypertensive phase in 12 eyes (46%). Kaplan-Meier life-table analysis showed a cumulative probability of success after Ahmed glaucoma valve implantation of 65% at 84 months. CONCLUSIONS: Ahmed glaucoma drainage implant surgery may be considered a long-term effective and safety surgical option for patients with refractory uveitic glaucoma.

[Integral incident management system in primary care: Beyond patient safety]. / Sistema integral de gestión de incidencias en atención primaria: más allá de la seguridad del paciente.

OBJECTIVE: To describe an integral system of notification and management of incidents, created by the Primary Care Team of Guineueta, as well as the main results after 18 months of implementation. MATERIAL AND METHOD: Using a simple online form, health professionals notified any type of, already categorised, incident. Each of them were distributed to an improvement team that assessed and performed the necessary actions. In addition, the Quality Committee immediately assessed the ones that affected patient safety, as well as the most relevant or repetitive ones every 6 months. RESULTS: During the first 18 months of operation of the system, the health professionals reported 1,267 incidents, most notably informatics, maintenance/technical assistance, and errors in scheduling, in internal circuits and protocols. Eight of them were considered to significantly affect patient safety. CONCLUSIONS: The implementation of the described system has been consolidated into our team, facilitating the detection of problems, the accomplishment of improvement actions and involving the professionals in the improvement of the quality.

Mejora de la gestión de la demanda en un equipo de Atención Primaria / Improvement in the management of demand in a primary care team

Introducción La gestión de la demanda y en particular de la demanda sin cita constituye un reto que preocupa a gestores y profesionales. Aunque los motivos han sido ampliamente estudiados, la solución al problema no es sencilla. Introducción Dado que la excesiva demanda percibida era el principal motivo de insatisfacción de los profesionales de nuestro equipo, planificamos e implantamos un cambio organizativo con intervenciones sobre profesionales, organización y estructura con el objetivo de mejorar la gestión global de la demanda (en especial la generada sin citación previa), disminuir la hiperfrecuentación e incrementar además la calidad de la atención a todos los pacientes del equipo de Atención Primaria. Material y métodos Detección de los procesos a mejorar. Material y métodos Planificación multidisciplinar. Material y métodos Creación de dos sistemas independientes de atención a la visita programada y a la visita sin cita. Material y métodos Eliminación de los aspectos burocráticos de las consultas. Material y métodos laboración de pautas y unificación de critEerios de actuación sobre las visitas con y sin cita. Material y métodos Potenciación del rol de los profesionales de enfermería y administrativos en la atención a la población, tanto en la visita programada como en la visita sin cita. Material y métodos Cambios de ubicación para mejorar la colaboración médico-enfermera. Material y métodos Análisis estadístico y evaluación de resultados. Resultados Se ha conseguido una disminución significativa del número de visitas totales con o sin cita previa del centro así como las de los pacientes hiperfrecuentadores (ambas con p<0,001). Los roles de los profesionales no facultativos se han reforzado. Las encuestas de satisfacción de usuarios y profesionales con el nuevo sistema son positivas...(AU)

Introduction Demand management and particularly demand with no previous appointment is a challenge that concerns managers and professionals. Although the reasons have been extensively studied, the solution is not simple. Introduction Since perception of excessive demand was the main reason of dissatisfaction of our professional team, we planned and implemented an organizational change with interventions on professional organization and structure to improve overall management of demand and particularly that generated with no previous appointment, to reduce excessive use and also increase the quality of the care to all the patients of the Primary Care Team (PCT). Material and methods Detection of the processes to improve. Some of the most important interventions are summarized: multidisciplinary planning; creation of two separate care systems for the scheduled visit and the visit without an appointment; elimination of the bureaucratic aspects of the consultations; development of standards and standardization of performance criteria on visits with and without appointment; enhancing the role of nurses and administrative attention to the population in both the scheduled visit and in the spontaneous visit; changes of location to enhance the doctor-nurse collaboration. Material and methods A statistical analysis and evaluation of results were performed. Results A significant reduction was achieved in the total number of visits to the center of those with or without an appointment and in those patients with a high number of visits (both p<0.001). The roles of nurse and administrative were strengthened. The satisfaction surveys of the users and professionals regarding the new system have been positive. Conclusion A multidisciplinary strategy, developed and agreed on by the whole team, has a positive influence on demand and improves quality of care (AU)

Mejora de la gestión de la demanda en un equipo de Atención Primaria / Improvement in the management of demand in a primary care team

Introducción: La gestión de la demanda y en particular de la demanda sin cita constituye un reto que preocupa a gestores y profesionales. Aunque los motivos han sido ampliamente estudiados, la solución al problema no es sencilla. Introducción: Dado que la excesiva demanda percibida era el principal motivo de insatisfacción de los profesionales de nuestro equipo, planificamos e implantamos un cambio organizativo con intervenciones sobre profesionales, organización y estructura con el objetivo de mejorar la gestión global de la demanda (en especial la generada sin citación previa), disminuir la hiperfrecuentación e incrementar además la calidad de la atención a todos los pacientes del equipo de Atención Primaria. Material y métodos: Detección de los procesos a mejorar. Material y métodos: Planificación multidisciplinar. Material y métodos: Creación de dos sistemas independientes de atención a la visita programada y a la visita sin cita. Eliminación de los aspectos burocráticos de las consultas. Elaboración de pautas y unificación de criterios de actuación sobre las visitas con y sin cita. Potenciación del rol de los profesionales de enfermería y administrativos en la atención a la población, tanto en la visita programada como en la visita sin cita. Cambios de ubicación para mejorar la colaboración médico-enfermera. Análisis estadístico y evaluación de resultados. Se ha conseguido una disminución significativa del número de visitas totales con o sin cita previa del centro así como las de los pacientes hiperfrecuentadores (ambas con p<0,001). Los roles de los profesionales no facultativos se han reforzado. Las encuestas de satisfacción de usuarios y profesionales con el nuevo sistema son positivas. Conclusión: Una estrategia multidisciplinar, trabajada y consensuada por todo el equipo, consigue incidir de manera positiva sobre la demanda y mejorar la calidad asistencial (AU)

Introduction: Demand management and particularly demand with no previous appointment is a challenge that concerns managers and professionals. Although the reasons have been extensively studied, the solution is not simple. Introduction: Since perception of excessive demand was the main reason of dissatisfaction of our professional team, we planned and implemented an organizational change with interventions on professional organization and structure to improve overall management of demand and particularly that generated with no previous appointment, to reduce excessive use and also increase the quality of the care to all the patients of the Primary Care Team (PCT). Material and methods: Detection of the processes to improve. Some of the most important interventions are summarized: multidisciplinary planning; creation of two separate care systems for the scheduled visit and the visit without an appointment; elimination of the bureaucratic aspects of the consultations; development of standards and standardization of performance criteria on visits with and without appointment; enhancing the role of nurses and administrative attention to the population in both the scheduled visit and in the spontaneous visit; changes of location to enhance the doctor-nurse collaboration. Material and methods: A statistical analysis and evaluation of results were performed. Results: A significant reduction was achieved in the total number of visits to the center of those with or without an appointment and in those patients with a high number of visits (both p<0.001). The roles of nurse and administrative were strengthened. The satisfaction surveys of the users and professionals regarding the new system have been positive. Conclusion: A multidisciplinary strategy, developed and agreed on by the whole team, has a positive influence on demand and improves quality of care (AU)

Diagnóstico ecográfico de pies zambos / Ultrasonographic diagnosis of clubfeet

Introducción. Estudiar la sensibilidad, el valor predictivopositivo y la tasa de falsos negativos de la ecografía de segundotrimestre para el diagnóstico de pies zambos, ademásde conocer las alteraciones asociadas a esta anomalía.Métodos. Estudio retrospectivo de 52 recién nacidoscon pies zambos en el Hospital Parc Taulí de Sabadell entre2000-2007. Se seleccionaron los casos de la base de datos dela Unidad de Diagnóstico Prenatal. Se revisaron las historiasclínicas y los informes de exploraciones complementarias.Resultados. La sensibilidad, el valor predictivo positivo yla tasa de falsos negativos de la ecografía fueron 76,9, 93 y23,1 %, respectivamente. Se observaron malformacionesasociadas en el 32,7 % de los casos.Discusión. Junto con la ecografía, las exploracionescomplementarias (resonancia magnética y ecocardiografíafetales) nos han permitido el diagnóstico prenatal de malformacionesasociadas a los pies zambos. Consideramos convenientela práctica del cariotipo fetal en casos de piezambo, ya sea unilateral o bilateral(AU)

Introduction. To study sensitivity, the positive predictivevalue and false negative rate from the second trimesterultrasound scan to diagnose club feet, besides toknow alterations associated to this anomaly.Methods. Retrospective study of 52 newborn withclub feet in Parc Taulí Hospital between 2000-2007. Thecases were selected of the database of the Unit PrenatalDiagnosis. Results. The sensitivity, the positive predictive valueand the false negative rate were 76.9%, 93% and 23.1%respectively. Malformations associated were observed in32.7% of the cases.Discussion. Along with the ultrasound scan, thecomplementary tests (fetal magnetic resonance and heartultrasound) have allowed the prenatal diagnosis of malformationsassociated to clubfeet. We recommend thepractice of karyotype fetal in both cases, unilateral andbilateral clubfoot(AU)

Control y seguimiento de la nutrición artificial domiciliaria en Atención Primaria. Una experiencia de coordinación Hospital-Primaria / No disponible

La nutrición artificial es un tratamiento de indicación hospitalaria que puede administrarse de manera puntual o permanente. Cada vez más, existen situaciones clínicas que permiten que los pacientes a los que se les administra este tratamiento puedan ser atendidos en su domicilio, suponiendo una mayor eficiencia y satisfacción del propio paciente y su familia.No obstante, la atención sanitaria, cuando se realiza en el domicilio del paciente, supone una dificultad para el nivel hospitalario, mientras que ya se realiza con normalidad desde la Atención Primaria.El diálogo y la coordinación entre ambos niveles asistenciales nos han llevado a la realización y puesta en práctica de un protocolo de atención conjunta para los pacientes en tratamiento con nutrición artificial domiciliaria, mediante el cual estamos convencidos de que estamos incrementando la calidad de la atención prestada. Los puntos más destacados del proceso de implementación se exponen en este artículo

Artificial nutrition is a hospital level treatment that can be administered short or long term. There are an increasing number of clinical situations that allow patients to receive this treatment in the home, meaning greater efficiency and satisfaction for the patient and family.However, while health care performed in the patient’s home is already a normal part of primary health care, hospital treatment at home supposes greater difficulty.Dialogue and coordination between both care levels haveled to the formulation and application of a protocol for combined care for patients receiving Artificial Nutrition treatment in the home. We are convinced that this is increasing the care quality given. The most outstanding points in the implementation process are presented in this article

Magnetic resonance imaging of the intrauterine fetal genitourinary tract: normal anatomy and pathology.

Although ultrasonography (US) remains the most widely used diagnostic imaging modality for routine evaluation of the fetus, magnetic resonance (MR) imaging has become an invaluable complement to US in all cases in which additional information is desirable. While the ability of US to detect fetal abnormalities is limited in cases such as maternal obesity, oligohydramnios, and in certain fetal positions, MR using fast and ultrafast pulse sequences enables high-quality fetal images to be acquired regardless of the mother's physical condition or fetal position. Fetal genitourinary disorders are the most common intrauterine abnormalities detected by US, accounting for approximately 30% of all antenatally detected anomalies. Although they usually occur in isolation, these defects can form part of more complex syndromes or chromosomopathies, and MR is indicated to rule out associated abnormalities. In some severe genitourinary disorders, there is a severe deficit of amniotic fluid; these cases are associated with other fetal anomalies such as pulmonary hypoplasia and very poor prognosis. In other cases, the amniotic fluid is not compromised, yet the further detection, localization, and characterization of prenatal disorders will have an impact on postnatal follow-up. This article reviews the role of fetal MR in urogenital tract disorders.

Fetal and placenta chromosome constitution in 237 pregnancy losses.

The aim of the study was to carry out cytogenetic analyses in pregnancy losses. Samples of cartilage and placenta tissue were obtained prospectively from 237 pregnancy losses of more than 16 weeks of gestation (130 stillbirths, 97 induced abortions and 10 early neonatal deaths). Cartilage culture was performed in 222 samples and placental culture was initiated in 224. The overall culture success rate was 83.5%, 72.3% in stillbirths, 97% in induced abortions and 100% in early neonatal death. An abnormal karyotype was detected in 52 cases: 6.9% in stillbirths, 43.6% in induced abortions and 20% in early neonatal deaths. The rate of discrepancy between the prenatal cytogenetic results in amniotic fluid and the post-termination karyotype was 3%. The tissue of choice for cytogenetic analysis was cartilage in induced abortions and early neonatal death, and placenta in stillbirth. The majority of cases had a chromosome abnormality: multiple congenital anomalies in 74.6%, and a single major anomaly in 9.7%.

Indicaciones de la resonanciamagnética / Fetal intracranial ultrasonography: magnetic resonance indications

No disponible

Ruptura espontánea de las venas útero-ováricas durante la gestación / Spontaneous rupture of uterine-ovarian veins during gestation

No disponible

[Analysis of the Doppler signal (color and pulsed) in hepatocarcinoma]. / Análisis de la señal Doppler (color y pulsado) en el hepatocarcinoma.

Real time echocardiography associated with pulsed Doppler (duplex) and color (triplex) provide a non invasive technique to determine the vascular morphology of a lesion. The duplex and triplex signal of 35 liver tumors, 23 hepatocarcinomas and 12 angiomas found in the first high frequency signals greater than 1.81 kHz and traced with pulsatile or mixed morphology (pulsed and continuous) were analyzed. The second signals were of low frequency, less than 1 kHz and continuous tracing. It may be concluded than echo-Doppler is a complementary technique to conventional echography and is useful in the diagnosis of hepatocellular carcinoma.

Complications of Operative Hysteroscopy

We conducted a retrospective study of 324 operative hysteroscopies performed from January 1993 to December 1995 to evaluate and analyze possible complications. Our complication rate was 5.2%, with uterine perforation being the most common at 1.8%. We had no cases of water intoxication.

[Experimental bladder augmentation with Gore-tex amine: biomechanical, biochemical and biostructural aspects]. / Estudio experimental de la ampliación vesical con lámina de Gore-tex: aspectos biomecánicos, bioquímicos y bioestructurales.

We conducted an experimental study on 20 dogs that were subdivided into two groups: the control group comprised 5 dogs that were submitted to resection of 50% of the bladder; the other group comprised 15 dogs submitted to resection of 50% of the bladder and replacement with Gore-tex patch, which was removed 3 months thereafter in 10 dogs. CPK, creatinine, ions, and urinary pH values were determined and urine cultures were performed. The biomechanical parameters of the bladder wall were determined by cystometry. A histological study with hematoxylin-eosin of bladder dome specimens was done. The results showed no increased bladder capacity in the animals that received the Gore-tex implant versus the control animals, chiefly due to the necrosis produced by stiffness of the Gore-tex implant. This necrosis was associated with diminished elasticity (due to collagen) and substitution of the muscle fibers by other viscoelastic fibers with a higher elastic constant. Three months following removal of the Gore-tex implant, we observed fibrotic reaction, secondary calcification of the necrotic bladder wall and inflammatory phenomena that impeded muscle regeneration. The urinary pH increased significantly in the dogs that received the Gore-tex implant. The foregoing results show that although the Gore-tex patch is impermeable and resistant to infection, it does not have the appropriate biomechanical properties.

Importance of the active component of the detrusor muscle in bladder compliance.

An appropriate experimental study was designed and carried out in mongrel dogs, in order to evaluate the active muscle and cholinergic participation on bladder compliance. The filling bladder pressure was measured at 100 ml of bladder volume, in 50 dogs distributed into five groups of 10 dogs each: (1) control group, (2) group which received atropine (cholinergic antagonist), (3) group which received verapamil (extracellular Ca2+ blocker), (4) group which received nitroprusside (intracellular Ca2+ antagonist), and (5) group which received EGTA (Ca(2+)-chelating agent). Furthermore, the following was demonstrated. (1) The greatest decrease of the bladder filling pressure was observed in the group which was treated with EGTA. (2) A significant decrease of the bladder filling pressure was also seen in the group which was given nitroprusside. (3) The decrease of bladder filling pressure in the verapamil group tended towards statistical significance. (4) There was no decrease in the atropine group. Thus, it was concluded that the active muscle component has an important role in the bladder compliance (through the intracellular calcium fraction), and the cholinergic component does not participate in the bladder compliance.

A study on the viscoelastic properties of the urinary bladder in dogs.

This experimental study was designed and carried out in order to investigate the participation of the collagen and muscular tissues on the viscoelastic properties of the bladder wall. Sixty-five adult male mongrel dogs were utilized. These animals were divided into 5 groups: control group (n = 10); dogs (n = 10) receiving 2.5 mg/kg atropine (cholinergic antagonist); dogs (n = 10) receiving 0.7 mg/kg verapamil (calcium extracellular inflow blocker); dogs (n = 10) receiving 0.1 mg/kg/min nitroprusside (intracellular calcium blocker), and dogs (n = 25) receiving EGTA (a calcium-chelating agent) at increasing doses from 90 to 450 mg/kg. Based on a mathematical model, we have demonstrated that: (1) the collagen component is responsible for the elastic properties; (2) the muscle component is responsible for the viscoelastic properties; (3) the viscoelastic properties have an active element which is affected by calcium total depletion, and (4) such viscoelastic properties are not dependent on cholinergic stimulation.