Epilepsy in inherited metabolic disorders: a pediatric series.

AIM: Our study aims at further defining the characteristics of epilepsy in Inherited Metabolic Disorders (IMDs). METHODS: We reviewed the medical records of 345 patients with IMDs followed at the Metabolic Diseases Unit of our Department of Pediatrics and found the presence of an epileptic syndrome in 45 cases. An overview is given based on various criteria such as pathogenetic background, seizure type, age of onset, EEG, neuroimaging data, treatability. Seizure types were: focal (24 patients), generalized (13 patients), febrile (3 patients), and hypoglycemic (8 patients with glycogenoses). Some patients presented with more than one type of seizures. Age of onset was mainly during the first year of life (N.=19), between 2 and 6 years in 13 patients, and after the 6th year in 9 patients. RESULTS: Available EEGs showed either focal (N.=21) or generalized epileptiform abnormalities (N.=11); multifocal paroxysms were evident in 3 patients while the remaining 3 patients had normal findings. Available neuroimages (CT/MRI) showed either normal findings (N.=6) or white matter abnormalities (N.=6), cerebral and/or cerebellar cortical atrophy (N.=11), hydrocephalus (N.=1), corpus callosum hypoplasia (N.=2), pontocerebellar hypoplasia (N.=1), gliosis in trigone area (N.=4). Most patients showed a favorable response to antiepileptic treatment (AEDs) with either complete control or reduced seizure frequency. CONCLUSION: IMDs are a relatively rare cause of epilepsy in children but their diagnosis is very important with respect to treatment, prognosis and genetic counselling.

[Propranolol and 5-isosorbide mononitrate in patients with cirrhosis: systemic and portal hemodynamic events]. / Propranolol y 5-mononitrato de isosorbide en pacientes con cirrosis: episodios hemodinámicos sistémicos y portales.

AIM: To study the acute variations in portal and systemic hemodynamics after propranolol and 5-isosorbide mononitrate (IMN) administration in cirrhotic patients. PATIENTS AND METHODS: Seventeen cirrhotic patients with portal hypertension were studied with catheterization and Doppler duplex Ultrasound Systemic hemodynamics. Hepatic venous pressure gradient (HVPG), portal blood flow and resistance were evaluated in baseline, after intravenous propranolol (0.15 mg/kg), and after 20 mg p.o. of IMN. Patients who showed a decrease > or = 20% and/or < 12 mm/hg in HVPG were considered responders. RESULTS: There were no significant differences in clinical or portal hemodynamic baseline data between responders and non-responders to the drugs. After propranolol administration cardiac index decreased (p < 0.05) and pulmonary capillary pressure increased (p < 0.0001). Six patients (35%) were responders; lack of response was associated with an insufficient decrease in portal blood flow or with an increase in portal resistance. After IMN administration cardiac index decreased (p < 0.05) with normalization of pulmonary capillary pressure (p < 0.05). Seven patients were responders to the addition of IMN (5 non-responders to propranolol) and showed a decrease in HVPG associated with a reduction in portal blood flow and resistance; in the remaining 10 patients HVPG did not decrease despite a reduction in portal blood flow, with an increase in portal resistance. CONCLUSIONS: Addition of IMN increased the number of responders and reduced portal blood flow with a variable effect in portal resistance.

[Evaluation of propranolol response by catheterization and Doppler ultrasonography in patients with cirrhosis]. / Evaluación de la respuesta al propranolol por cateterismo y ecografía Doppler en pacientes con cirrosis.

AIMS: To analyze the changes in portal pressure, blood flow and resistance after propranolol administration, and to assess the predictive value of the variations of Doppler Duplex Ultrasonography (DDU) measurements according to the response of the hepatic venous pressure gradient (HVPG). PATIENTS & METHODS: 30 cirrhotic patients were studied. Assessment of systemic hemodynamics and HVPG were performed in baseline and after intravenous propranolol administration (0.15 mg/kg). Patients who showed a decrease > or = 20% &/or < 12 mm/Hg in HVPG were considered responders. The DDU study was performed in blind conditions, in baseline and after propranolol. Measurement of blood flow of the portal vein, splenic vein and femoral artery were performed. Portal resistance was calculated as HVPG/portal blood flow. RESULTS: All patients were beta blocked and 14 (47%) were responders. There were no significant differences in systemic or splachnic hemodynamic baseline data between responders and non responders. Femoral blood flow decreased in both groups. Splenic and portal blood flow decreased significantly only in responders. No significant difference was found in the variation of portal resistance between responders and non responders; when these changes were considered individually, a great variability was found in both groups. A decrease > or = 15% in splenic blood flow showed a positive predictive value of 88%, a lack of a similar decrease in portal blood flow showed a negative predictive value of 86%. CONCLUSIONS: The decrease in portal blood flow was the main factor in determining the response to propranolol.

Evaluacion de la respuesta al propranolol por cateterismo y ecografia Doppler en pacientes con cirrosis / Evaluation of the propranolol response by catheterization and Doppler ultrasonography in patients with cirrhosis

Objectivo: analizar los cambios en la presión, flujo y resistencia portal luego de la administración de propranolol, y determinar el valor predictivo de las variaciones de flujo de las venas porta y esplénica de acuerdo a la respuesta en el gradiente de presión de venas suprahepáticas (GPVH). Pacientes y método: en 30 pacientes cirróticos se realizó catetrismo con mediciones hemodinámicas sistémicas y portales en condiciones basales y luego de la administración de propranolol I.V. (0,15mg/kg); quienes mostraron una disminución del GPVH>20 por ciento y/ó <12 mm/hg fueron considerados respondedores. El estudio de ecografía Doopler fue realizado en condiciones basales y post propranolol, con mediciones de flujo en vena porta, vena esplénica y arteria femoral. La resistencia portal se calculó como GPVH / flujo portal. Resultados: todos los pacientes presentaron beta-bloqueo, 14 (47 por ciento) fueron respondedores. No hubo diferencias significativas en la hemo dinámica sistémica o portal basal entre respondedores y no respondedores. Luego del propranolol, el flujo femoral disminuyó en ambos grupos; el flujo en venas porta y esplénica disminuyó significativamente sólo en los respondedores. No hubo diferencias entre respondedores y no respondedores en los cambios de la resistencia portal, aunque se observó gran variabilidad en ambos grupos. Un desceno > 15 por ciento en el flujo de la vena esplénica mostró un valor predictivo positivo de 88 por cento, la falta de disminución del flujo portal > 15 por ciento presentó un valor predictivo negativo del 86 por ciento. Conclusión: la disminución en el flujo portal fue el factor más importante en determinar la respuesta al propranolol.

Evaluacion de la respuesta al propranolol por cateterismo y ecografia Doppler en pacientes con cirrosis / Evaluation of the propranolol response by catheterization and Doppler ultrasonography in patients with cirrhosis

Objectivo: analizar los cambios en la presión, flujo y resistencia portal luego de la administración de propranolol, y determinar el valor predictivo de las variaciones de flujo de las venas porta y esplénica de acuerdo a la respuesta en el gradiente de presión de venas suprahepáticas (GPVH). Pacientes y método: en 30 pacientes cirróticos se realizó catetrismo con mediciones hemodinámicas sistémicas y portales en condiciones basales y luego de la administración de propranolol I.V. (0,15mg/kg); quienes mostraron una disminución del GPVH>20 por ciento y/ó <12 mm/hg fueron considerados respondedores. El estudio de ecografía Doopler fue realizado en condiciones basales y post propranolol, con mediciones de flujo en vena porta, vena esplénica y arteria femoral. La resistencia portal se calculó como GPVH / flujo portal. Resultados: todos los pacientes presentaron beta-bloqueo, 14 (47 por ciento) fueron respondedores. No hubo diferencias significativas en la hemo dinámica sistémica o portal basal entre respondedores y no respondedores. Luego del propranolol, el flujo femoral disminuyó en ambos grupos; el flujo en venas porta y esplénica disminuyó significativamente sólo en los respondedores. No hubo diferencias entre respondedores y no respondedores en los cambios de la resistencia portal, aunque se observó gran variabilidad en ambos grupos. Un desceno > 15 por ciento en el flujo de la vena esplénica mostró un valor predictivo positivo de 88 por cento, la falta de disminución del flujo portal > 15 por ciento presentó un valor predictivo negativo del 86 por ciento. Conclusión: la disminución en el flujo portal fue el factor más importante en determinar la respuesta al propranolol. (AU)

The clinical presentation of acute myocardial infarction predicts the severity of the lesion in the infarct-related artery.

The purpose of this study was to correlate the clinical presentation of acute myocardial infarction with the patency rate and degree of residual stenosis of the infarct-related artery. One hundred and forty-five patients who underwent angiography after acute myocardial infarction were divided into two groups according to the time of onset of anginal pain prior to infarction. Group A comprised 119 patients, (109 men, 10 women, aged 53 +/- 9 years) who did not experience any symptoms before infarction or with anginal pain of less than 5 days preceding myocardial infarction, and group B 26 patients (all men, aged 54 +/- 12 years) with previous stable angina for greater than or equal to 1 year. Twenty-two days after acute myocardial infarction, 68 of the 145 patients (47%) had a patent infarct-related artery: 64 patients in group A (54%) and four patients in group B (15.4%) (P less than 0.006). Furthermore, 19 patients in group A (16%) and none in group B had less than 70% stenosis in the infarct-related artery (P less than 0.02). The mean residual stenosis in group A was 83.3 +/- 27% whereas in group B it was 98.1 +/- 4% (P less than 0.001). These results indicate that a long-standing history of angina before acute myocardial infarction is often related to a severe pre-existing atheromatous obstruction, which would account for the higher incidence of total coronary occlusion observed in group B. Thus angina of recent onset preceding acute myocardial infarction is associated with a higher patency rate of the infarct-related artery and frequent less than 70% residual lesions.

Acute myocardial infarction-related coronary artery residual narrowing after intravenous streptokinase: relationship with previous coronary symptoms.

In 72 patients who received streptokinase within 6 hours of the onset of an acute myocardial infarction (AMI), the relationship between the presence of a previous coronary event and the severity of the residual coronary artery stenosis was studied. Fifty-five patients were either asymptomatic or had recent onset angina (less than 5 days) before AMI (group A) and 17 patients had chronic angina (greater than 1 year) before AMI (group B). Coronary angiograms were performed at 20 days (range 15 to 25 days). Patency of the infarct-related artery was greater in group A: 43 of 55 patients (78%) versus 8 of 17 patients (47%) in group B (p less than 0.05). Residual stenosis was less than 70% in 21 patients of group A (49% of patent arteries), whereas it manifested in none of eight patients with patent arteries in group B (p less than 0.01). This suggests that thrombosis was a major component of the coronary artery narrowing in group A patients, while it is more likely that thrombus only completes a previously severe (greater than 70%) coronary artery stenosis in patients with long-standing angina before AMI.

Natural history of unstable angina with medical or surgical therapy.

In order to establish the natural evolution of unstable angina under medical treatment and to determine the possible benefits of revascularization surgery, 113 patients were studied; 51 received medical treatment (24 with intermediate syndrome and 27 with progressive angina), and 62 others received surgical treatment (28 with intermediate syndrome and 34 with progressive angina). After a mean follow-up of 32 months, the mortality in the medically treated groups was 46 percent (11/24) with intermediate syndrome and 7 percent (2/27) with progressive angina (P less than 0.005), and the incidence of myocardial infarction was 38 percent (9/24) and 7 percent (2/27), respectively (P less than 0.01). Moreover, in comparing cases treated medically or surgically, the mortality was as follows: intermediate syndrome treated medically, 46 percent (11/24) vs 11 percent (3/28) in those treated surgically (P less than 0.005); and progressive angina treated medically, 7 percent (2/27) vs 9 percent (3/34) in those treated surgically (P = 0.85). The incidence of myocardial infarction was as follows: intermediate syndrome treated medically, 38 percent (9/24) vs 14 percent (4/28) in those treated surgically (P less than or equal to 0.056); and progressive angina treated medically, 7 percent (2/27) vs 12 percent (4/34) in those treated surgically (P greater than 0.55).

Modern concepts in the management of emphysema in the aged and infirm.

The haphazard method of treating patients seriously ill with emphysema is gradually being replaced by modern, well organized cardiopulmonary therapeutic and rehabilitation programs. This evolution is the result of a further expansion in our knowledge of cardiopulmonary physiology and biochemistry; an additional factor is the recent public awareness of the seriousness of the problem, brought about by public educational programs. Emphysema is chiefly a disease of old age. It develops as a result of a degenerative process in which the alveolar walls become thinner and the lungs less elastic. Senile emphysema per se may not be disabling, but it is often associated with a severe chronic pulmonary disorder and thus can become the most distressing disease of old age, with shortness of breath even on such slight exertion as dressing or talking. Disturbances in cardiopulmonary physiology due to obstruction in the free flow of air and to superimposed infections require the use of all available procedures designed to obtain maximal pulmonary ventilation. The magnitude, the difficulty and the many controversial aspects of this problem are evident. The eventual solution will come gradually with continued interest and research.