Tarjeta de emergencias médicas para la enfermedad de Steinert: una necesidad desatendida / Medical emergency card for Steinert’s disease: an unmet need

Introducción: La distrofia miotónica de tipo 1 (DM1), o enfermedad de Steinert (ORPHA 273; OMIM #160900), es un trastorno de origen genético poco frecuente con manifestaciones musculares (debilidad muscular y miotonía), cataratas de inicio temprano (antes de los 50 años) y manifestaciones sistémicas (cerebral, endocrina, cardíaca, del tubo digestivo, del útero, de la piel y del sistema inmunitario). Su expresividad clínica es muy variable y se extiende desde formas letales en la lactancia hasta una enfermedad leve de aparición tardía. Su baja frecuencia impide que los profesionales de urgencias médicas se familiaricen con las precauciones imprescindibles para su tratamiento. Con el propósito de paliar esta falta de información, los afectados por DM1 disponen, en los países de nuestro entorno, de una tarjeta de emergencia médica (TEM) que el paciente siempre debe llevar consigo y entregar al facultativo antes de recibir asistencia urgente. Objetivos: Definir la TEM, describir las TEM para la DM1 ya implantadas y enumerar las ventajas para pacientes y profesionales que supone su utilización. Material y métodos. Se describen algunas de las TEM para la DM1 actualmente en uso en Francia y el Reino Unido. Resultados: Se exponen pormenorizadamente los argumentos que justifican su implantación en nuestro medio.Conclusiones: La TEM para la DM1 gestionada por un facultativo puede mejorar la asistencia en emergencias médicas de los pacientes afectados por la enfermedad de Steinert.

Introduction: Myotonic dystrophy type 1 (DM1) or Steinert’s disease (ORPHA 273; OMIM #160900) is a rare disorder of genetic origin with muscular manifestations (muscle weakness and myotonia), early-onset cataracts (before 50 years of age) and systemic manifestations (cerebral, endocrine, cardiac, gastrointestinal tract, uterus, skin and immune system). Its clinical expressivity is highly variable and ranges from lethal forms in infancy to mild late-onset disease. Its low frequency prevents emergency medical professionals from becoming familiar with the essential precautions for its treatment. In order to alleviate this lack of information, those affected by DM1 have, in the countries of our environment, a medical emergency card (Tarjeta de Emergencias Médicas, TEM) that the patient should always carry with him/her and give to the physician before receiving emergency care. Objectives: To define the TEM. To describe the TEM for DM1 already implemented. To list the advantages for patients and professionals of their use. Material and methods: Some of the TEM for DM1 currently in use in France and the United Kingdom are described. Results: The arguments justifying their implantation in our setting are presented in detail. Conclusions: The TEM for DM1 managed by a physician can improve the emergency medical care of patients affected by Steinert’s disease.(AU)

[Medical emergency card for Steinert's disease: an unmet need]. / Tarjeta de emergencias médicas para la enfermedad de Steinert: una necesidad desatendida.

INTRODUCTION: Myotonic dystrophy type 1 (DM1) or Steinert's disease (ORPHA 273; OMIM #160900) is a rare disorder of genetic origin with muscular manifestations (muscle weakness and myotonia), early-onset cataracts (before 50 years of age) and systemic manifestations (cerebral, endocrine, cardiac, gastrointestinal tract, uterus, skin and immune system). Its clinical expressivity is highly variable and ranges from lethal forms in infancy to mild late-onset disease. Its low frequency prevents emergency medical professionals from becoming familiar with the essential precautions for its treatment. In order to alleviate this lack of information, those affected by DM1 have, in the countries of our environment, a medical emergency card (Tarjeta de Emergencias Medicas, TEM) that the patient should always carry with him/her and give to the physician before receiving emergency care. OBJECTIVES: To define the TEM. To describe the TEM for DM1 already implemented. To list the advantages for patients and professionals of their use. MATERIAL AND METHODS: Some of the TEM for DM1 currently in use in France and the United Kingdom are described. RESULTS: The arguments justifying their implantation in our setting are presented in detail. CONCLUSIONS: The TEM for DM1 managed by a physician can improve the emergency medical care of patients affected by Steinert's disease.

TITLE: Tarjeta de emergencias médicas para la enfermedad de Steinert: una necesidad desatendida.Introducción. La distrofia miotónica de tipo 1 (DM1), o enfermedad de Steinert (ORPHA 273; OMIM #160900), es un trastorno de origen genético poco frecuente con manifestaciones musculares (debilidad muscular y miotonía), cataratas de inicio temprano (antes de los 50 años) y manifestaciones sistémicas (cerebral, endocrina, cardíaca, del tubo digestivo, del útero, de la piel y del sistema inmunitario). Su expresividad clínica es muy variable y se extiende desde formas letales en la lactancia hasta una enfermedad leve de aparición tardía. Su baja frecuencia impide que los profesionales de urgencias médicas se familiaricen con las precauciones imprescindibles para su tratamiento. Con el propósito de paliar esta falta de información, los afectados por DM1 disponen, en los países de nuestro entorno, de una tarjeta de emergencia médica (TEM) que el paciente siempre debe llevar consigo y entregar al facultativo antes de recibir asistencia urgente. Objetivos. Definir la TEM, describir las TEM para la DM1 ya implantadas y enumerar las ventajas para pacientes y profesionales que supone su utilización. Material y métodos. Se describen algunas de las TEM para la DM1 actualmente en uso en Francia y el Reino Unido. Resultados. Se exponen pormenorizadamente los argumentos que justifican su implantación en nuestro medio. Conclusiones. La TEM para la DM1 gestionada por un facultativo puede mejorar la asistencia en emergencias médicas de los pacientes afectados por la enfermedad de Steinert.

Asistencia biventricular en el manejo de la disfunción ventricular izquierda secundaria a ECMO-VA periférica: a propósito de 2 casos / Peripheral VA-ECMO left ventricular dysfunction: A combined biventricular assistance two case-report

Presentamos a 2pacientes con shock cardiogénico que desarrollaron disfunción ventricular izquierda severa debido a una válvula aórtica disfuncionante mientras estaban en extra-corporeal membrane oxygenation (ECMO)-VA periférica. Los pacientes fueron tratados combinando un dispositivo de asistencia mecánica para el ventrículo izquierdo (VI) y ECMO-VA central para apoyar el ventrículo derecho, proporcionando así una asistencia respiratoria y circulatoria adecuada que les permitió optar a una recuperación completa, o bien llegar a ser candidatos a trasplante cardiaco. Por lo tanto, recomendamos dicha combinación en aquellos pacientes que desarrollan disfunción grave del VI mientras reciben apoyo de ECMO-VA periférica.(AU)

We report 2patients with cardiogenic shock that developed severe left ventricular dysfunction due to a non-opening aortic valve while on peripheral VA-ECMO (Veno-Arterial Extracorporeal Membrane Oxygenator). Patients were managed combining a LV (Left Ventricle) mechanical assist device, and central VA – ECMO to support the right ventricle, thus providing full circulatory and respiratory assistance. Patients were able to bridge to cardiac transplantation. We therefore recommend such combination in patients with severe LV dysfunction while on p-ECMO (peripheral ECMO) support.(AU)

Peripheral VA-ECMO left ventricular dysfunction: A combined biventricular assistance two case-report.

We report 2 patients with cardiogenic shock that developed severe left ventricular dysfunction due to a non-opening aortic valve while on peripheral VA-ECMO (Veno-Arterial Extracorporeal Membrane Oxygenator). Patients were managed combining a LV (Left Ventricle) mechanical assist device, and central VA - ECMO to support the right ventricle, thus providing full circulatory and respiratory assistance. Patients were able to bridge to cardiac transplantation. We therefore recommend such combination in patients with severe LV dysfunction while on p-ECMO (peripheral ECMO) support.

[Steinert's myotonic dystrophy and thromboembolic disease]. / Distrofia miotónica de Steinert y enfermedad tromboembólica.

TITLE: Distrofia miotónica de Steinert y enfermedad tromboembólica.

Alteración cognitiva en la distrofia miotónica tipo 1 (enfermedad de Steinert) / Cognitive impairment in myotonic dystrophy type 1 (Steinert's disease)

Tradicionalmente se ha reconocido que los enfermos con distrofia miotónica tipo 1 (DM-1), o enfermedad de Steinert, presentan una conducta muy característica, dejando aparte aquellos casos en que existe patología mental o un retraso del neurodesarrollo. Se describe el sustrato neurológico de dicha conducta. El objetivo de este texto es doble. Por una parte, se pretende que los clínicos, ante un paciente con DM-1, consideren siempre los aspectos cognitivos de la enfermedad. Por otra, se busca desmontar ideas preconcebidas sobre el peculiar comportamiento de estos pacientes (AU)

raditionally, it has been recognized that patients with myotonic dystrophy type 1 (MD-1) – also known as Steinert disease –, they show a specific behaviour, not including those who suffer from mental or neurodevelopmental diseases. The neurological substrate of this behaviour is described. The aim of this text has two purposes. The first intention is that clinical staff, when faced with a patient with MD-1, always consider the cognitive aspects of the disease. On the other hand, it is intended to combat preconceived ideas about the particular behaviour of these patients (AU)

[Cognitive impairment in myotonic dystrophy type 1 (Steinert's disease)]. / Alteración cognitiva en la distrofia miotónica tipo 1 (enfermedad de Steinert).

Traditionally, it has been recognized that patients with myotonic dystrophy type 1 (MD-1) - also known as Steinert disease -, they show a specific behaviour, not including those who suffer from mental or neurodevelopmental diseases. The neurological substrate of this behaviour is described. The aim of this text has two purposes. The first intention is that clinical staff, when faced with a patient with MD-1, always consider the cognitive aspects of the disease. On the other hand, it is intended to combat preconceived ideas about the particular behaviour of these patients.

Management of lumbar disc herniation with radiculopathy: Results of an Iberian-Latin American survey.

BACKGROUND: Lumbar disc herniation (LDH)/radiculopathy is the most frequent cause of lost workdays in people under 50 years of age. Although there is consensus about how to assess these patients, the optimal management strategy is still debated. METHODS: An online survey was sent to spine surgeons who are members of the Iberian-Latin American Spine Society to assess how they treat LDH with radiculopathy. RESULTS: There were 718 surgeons who answered the survey; 66% reported that 76-100% of their monthly clinic work was due to spine issues. The most frequently used conservative treatment modalities included non-opioid analgesics and nonsteroidal anti-inflammatory drugs (NSAIDs) (90.5%), followed by physical therapy (55.2%) and pregabalin (41.4%). Notably, 40% of surgeons in the public sector believed that conservative treatment failed if symptoms persisted beyond 6-12 weeks, while 39% of private surgeons deemed conservative management insufficient if it had failed to provide symptomatic relief with 3-6 weeks. Of interest, 78% utilized epidural steroid injections (ESI); 51.7% preferred the transforaminal, 27.2% the interlaminar, and 7.5% the caudal approaches. The most frequent indications for surgery included: cauda equina syndrome, progressive neurological deficits, and intractable pain. Traditional microdiscectomy was the most common technique (68.5%) utilized, followed by 7.5% advocating endoscopic disc resection, and just 6.4% favoring the tubular discectomy. CONCLUSION: There is considerable heterogeneity among Iberian and Latin American spine surgeons in the treatment of LDH/radiculopathy. Although most begin with the utilization of NSAIDs and non-opioid analgesics, followed by ESI (88%), surgery was recommended for persistent symptoms/signs for those failing between 3 and 6 weeks (private sector) versus 6-12 weeks (public sector) of conservative therapy.

[Steinert's disease and refusal to treatment]. / Enfermedad de Steinert y rechazo de la actuación médica.

TITLE: Enfermedad de Steinert y rechazo de la actuación médica.

Peripheral VA-ECMO left ventricular dysfunction: A combined biventricular assistance two case-report. / Asistencia biventricular en el manejo de la disfunción ventricular izquierda secundaria a ECMO-VA periférica: a propósito de 2 casos.

We report 2patients with cardiogenic shock that developed severe left ventricular dysfunction due to a non-opening aortic valve while on peripheral VA-ECMO (Veno-Arterial Extracorporeal Membrane Oxygenator). Patients were managed combining a LV (Left Ventricle) mechanical assist device, and central VA - ECMO to support the right ventricle, thus providing full circulatory and respiratory assistance. Patients were able to bridge to cardiac transplantation. We therefore recommend such combination in patients with severe LV dysfunction while on p-ECMO (peripheral ECMO) support.

Actualización en distrofia miotónica tipo 1 del adulto / Adult myotonic dystrophy type 1: an update

La distrofia muscular miotónica tipo 1 (DM1) o enfermedad de Steinert (CIE-9-C: 359.21; CIE-10-ES: G71.11, ORPHA: 273) es una miopatía autosómica dominante de baja prevalencia (<5/10.000) con penetrancia casi completa y daño multiorgánico (neurológico, cardiológico, respiratorio, endocrinológico y digestivo). Es una de las enfermedades humanas con mayor variabilidad clínica. Los síntomas más incapacitantes o molestos para estos enfermos (limitación de la movilidad, cansancio crónico, somnolencia diurna o trastornos digestivos) y sus familias (apatía y falta de iniciativa) no son necesariamente los de peor pronóstico. Las complicaciones respiratorias y los trastornos cardíacos reducen la esperanza de vida de los afectados. No existe tratamiento que modifique su evolución. La función del médico de atención primaria es decisiva en el seguimiento de la DM1, ya sea coordinando a las diferentes especialidades implicadas en el mismo o detectando las complicaciones tratables, en las cuales se centra el presente trabajo

Myotonic dystrophy type 1 (DM1) or Steinert's disease (CIE-9-C: 359.21; CIE-10-ES: G71.11, ORPHA: 273) is a rare autosomal dominant inherited myopathy with almost complete penetrance and multisystemic consequences (neurological, cardiological, respiratory, endocrinological, and gastrointestinal). It is one of the clinical most variable diseases. The most bothersome symptoms for the patients (mobility problems, fatigue, hypersomnia, or gastrointestinal symptoms) and their families (apathy, lack of initiative) are not necessarily the most dangerous. Respiratory problems and cardiac arrhythmias shorten life expectancy. There is no specific treatment. The role of the Primary Care physician is crucial in the follow-up of DM1, either by coordinating the different professionals or detecting treatable complications. This work addresses the latter

[Adult myotonic dystrophy type 1: an update]. / Actualización en distrofia miotónica tipo 1 del adulto.

Myotonic dystrophy type 1 (DM1) or Steinert's disease (CIE-9-C: 359.21; CIE-10-ES: G71.11, ORPHA: 273) is a rare autosomal dominant inherited myopathy with almost complete penetrance and multisystemic consequences (neurological, cardiological, respiratory, endocrinological, and gastrointestinal). It is one of the clinical most variable diseases. The most bothersome symptoms for the patients (mobility problems, fatigue, hypersomnia, or gastrointestinal symptoms) and their families (apathy, lack of initiative) are not necessarily the most dangerous. Respiratory problems and cardiac arrhythmias shorten life expectancy. There is no specific treatment. The role of the Primary Care physician is crucial in the follow-up of DM1, either by coordinating the different professionals or detecting treatable complications. This work addresses the latter.