Thyroid hormone resistance from newborns to adults: a Spanish experience.

OBJECTIVE: Thyroid hormone resistance (RTH ß) is a rare genetic disorder characterized by an altered response of target tissue to the action of thyroid hormone. Few studies on RTH ß have been carried out in southern European populations. We aimed to describe the clinical and genetic characteristics at the time of diagnosis in a Spanish cohort of patients with genetically confirmed RTH ß, with ages ranging from newborns to adults. METHODS: Retrospective multicenter study of 28 patients who were genetically confirmed as RTH ß. Clinical and biochemical data were collected from the reference centers, and the studied variables included age, sex, anthropometric data, clinical characteristics and biochemical results. In the Basque country, a simultaneous analysis of TSH and T4 is carried out in the program for the screening of inborn errors of metabolism. A molecular analysis of the thyroid hormone beta (THRB) gene was performed. RESULTS: The total cohort included 20 adults and eight pediatric patients (six newborns). Of the total, 5 (17.8%) were diagnosed by clinical characteristics (goiter, hypertension or tachycardia), 13 (46.4%) were analyzed in the context of a family study and 10 (35.7%) were diagnosed after obtaining an altered fT4 and/or TSH level in a biochemical analysis performed due to clinical symptoms unrelated to RTH ß. Four of the newborns included in the series were diagnosed by the result of neonatal screening, which allows us to estimate a minimum local incidence of RTH ß of 1/18,750 live newborns. The genetic analysis showed the presence of 12 different heterozygous mutations in the THRB gene. CONCLUSIONS: We report the clinical and genetic characteristics of a Spanish RTH ß cohort, from neonates to adults. We also describe one novel mutation in the THRB gene as the cause of the disease. The simultaneous analysis of TSH and T4 carried out in the program for the screening of inborn errors of metabolism facilitates the early diagnosis of RTH ß in newborns and has allowed us to estimate a minimum local incidence of RTH of 1/18,750 live newborns.

Derrame pleural como forma de presentación del mieloma múltiple

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Entrainment of circus movement tachycardia utilizing an accessory pathway with long retrograde conduction times during ventricular and atrial stimulation.

An unusual case is presented in which a circus movement tachycardia incorporating an accessory pathway with long retrograde conduction time was transiently entrained. Overdrive high right atrial stimulation produced entrainment without atrial fusion since collision of anterograde and retrograde impulses took place within the accessory pathway. Tachycardia termination occurred when, at a faster pacing rate, an atrial impulse that collided in the accessory pathway was blocked at the atrioventricular (AV) node. In contrast, the entrainment seen during right ventricular apical stimulation was characterized by the occurrence of both fusion and collision within the ventricles. The tachycardia was terminated when a pure paced impulse that collided in the normal pathway was blocked in a retrograde direction in the accessory pathway. These data indicate that: 1) transient entrainment of this arrhythmia (circus movement tachycardia) can be identified by the classical criteria used to diagnose it, provided that fusion and collision occur within the ventricles; and 2) the accessory pathway is the weak link for tachycardia termination only during ventricular pacing since the AV node is the weak link during atrial stimulation.

Right atrial-ventricular dissociation and entrainment while pacing from high right atrium and coronary sinus during circus movement tachycardias.

Thirteen patients with circus movement tachycardias (CMT) were studied. Twelve had left-sided, and one, right-sided, accessory pathways. Entrainment was possible during overdrive high right atrial stimulation in 13/13 patients, and during coronary sinus pacing in 10/12 patients. The minimal pacing rates required for this to occur were 10 to 31 beats/min faster than those of the tachycardias. Short episodes of right atrial-ventricular dissociation occurred while pacing from the high right atrium (6/13 patients), but not from the coronary sinus (0/13 patients). It is possible to explain this phenomenon by postulating the existence of two distinct atrioventricular (AV) nodal inputs (one for right-sided and the other for left-sided impulses); it could also have been an expression of the close distance existing between the AV node and the coronary sinus. Entrainment, by defining a range of pacing rates followed by resumption of the tachycardia upon the cessation of stimulation, indicated that faster rates were needed for the CMT to be interrupted. However, regardless of the pacing rate and pacing site, tachycardia termination occurred when an anterograde impulse was blocked at the AV node. The information obtained from this study suggests that some patients with drug-resistant CMT may benefit from pacing modes capable of terminating the arrhythmia "through entrainment" at the slowest atrial rate at which this is possible.

Entrainment of atrioventricular nodal reentrant tachycardias during overdrive pacing from high right atrium and coronary sinus. With special reference to atrioventricular dissociation and 2:1 retrograde block during tachycardias.

Entrainment was attempted during electrophysiologic evaluation of 8 patients with atrioventricular (AV) nodal reentrant tachycardia. Entrainment could be performed while pacing from the high right atrium in 35 of 35 episodes, from proximal coronary sinus in 9 of 21 episodes and from distal coronary sinus in 10 of 20 episodes. The minimal rates required were 8 to 40 beats/min faster than those of the tachycardias. That the atria (as defined in electrophysiologic studies) were not a necessary component of the reentry circuit was suggested by the occurrence, during tachycardia, of short episodes of AV dissociation and of 1 episode of 2:1 retrograde block. For the tachycardia to be interrupted, the pacing rate usually had to be slightly faster than that required to entrain, as well as sufficiently rapid to produce anterograde block of an atrial impulse in the slow AV nodal pathway. Moreover, termination of tachycardia apparently was a function of the pacing site. In some episodes, either because of a proximity effect or because of a preferential input into the upper common pathway, coronary sinus pacing terminated the tachycardia at slower rates or with fewer stimuli than high right atrial pacing. Thus, patients with drug-resistant AV nodal reentrant tachycardias may benefit from recently introduced pacing techniques for termination of tachycardia through entrainment.

Primeras observaciones sobre la aplicacion de la prolamina en la pancreatitis aguda necrohemorragica en el hombre. / First observations about the use of prolamine in acute necrohemorrhagic pancreatitis in the man

Continuando una serie de estudios experimentales se presentan las 2 primeras observaciones en el ser humano, de pancreatitis aguda grave tratadas mediante bloqueo intraductal pancreatico con prolamina; existian lesiones hemorragicas severas. Se efectuo ademas colecistectomia, drenaje del coledoco, duodenotomia y papiloesfinterectomia. Ambas enfermas evolucionaron bien, aunque una de ellas con una fistula pancreatica y un absceso subhepatico que curaron espontaneamente. Se evalua la posibilidad de emplear esta droga indicando la intervencion precoz. Se sugiere la posibilidad de combinar el tratamiento quirurgico con el endoscopico para la aplicacion de la droga sin necesidad de hacerlo por via transduodenopapilar

Primeras observaciones sobre la aplicacion de la prolamina en la pancreatitis aguda necrohemorragica en el hombre. / First observations about the use of prolamine in acute necrohemorrhagic pancreatitis in the man

Continuando una serie de estudios experimentales se presentan las 2 primeras observaciones en el ser humano, de pancreatitis aguda grave tratadas mediante bloqueo intraductal pancreatico con prolamina; existian lesiones hemorragicas severas. Se efectuo ademas colecistectomia, drenaje del coledoco, duodenotomia y papiloesfinterectomia. Ambas enfermas evolucionaron bien, aunque una de ellas con una fistula pancreatica y un absceso subhepatico que curaron espontaneamente. Se evalua la posibilidad de emplear esta droga indicando la intervencion precoz. Se sugiere la posibilidad de combinar el tratamiento quirurgico con el endoscopico para la aplicacion de la droga sin necesidad de hacerlo por via transduodenopapilar

Pancreatitis aguda necrohemorragica experimental. Nuevo enfoque terapeutico mediante la oclusion ductal con Ethibloc. / Experiental acute necrohemorrhagic pancreatits.New therapeutic approach by means of the ductal occlusion wiht ethibloc

Se presentan los resultados obtenidos a traves de la accion oclusica del gel Ethibloc, en la evolucion de una pancreatitis aguda necrohemorragica experimental procudida con cloruro de calcio en el perro. La experiencia fue hecha en dos etapas. Primero las lesiones fueron verificadas por microscopia optica y electronica.Luego de producida da pancreatitis aguda necrohemorragica, en 12 perros y en el mismo acto quirurgico, se efectuo la oclusion ductal pancreatica con el agente mencionado. Los resultados (periodo de observacion de 23 dias) fueron favorables pues se obtuvo una sobrevida del 83,3%, contra el 100% de mortalidad del grupo no tratano Se hacen consideraciones sobre los probables mecanismos de accion del Ethibloc, y se plantea la hipotesis de si futura aplicacion terapeutica en el hombre

Pancreatitis aguda necrohemorragica experimental. Nuevo enfoque terapeutico mediante la oclusion ductal con Ethibloc. / Experiental acute necrohemorrhagic pancreatits.New therapeutic approach by means of the ductal occlusion wiht ethibloc

Se presentan los resultados obtenidos a traves de la accion oclusica del gel Ethibloc, en la evolucion de una pancreatitis aguda necrohemorragica experimental procudida con cloruro de calcio en el perro. La experiencia fue hecha en dos etapas. Primero las lesiones fueron verificadas por microscopia optica y electronica.Luego de producida da pancreatitis aguda necrohemorragica, en 12 perros y en el mismo acto quirurgico, se efectuo la oclusion ductal pancreatica con el agente mencionado. Los resultados (periodo de observacion de 23 dias) fueron favorables pues se obtuvo una sobrevida del 83,3%, contra el 100% de mortalidad del grupo no tratano Se hacen consideraciones sobre los probables mecanismos de accion del Ethibloc, y se plantea la hipotesis de si futura aplicacion terapeutica en el hombre