Serum neuron-specific enolase and S100 calcium binding protein B biomarker levels do not improve diagnosis of acute stroke.

BACKGROUND: The high sensitivities and specificities reported for blood biomarkers as a supportive test in the diagnosis of acute stroke do not correspond with their performance for decision-making in emergency situations. METHODS: Seventy-two patients with suspected stroke were recruited: 44 with ischaemic stroke, 17 with haemorrhagic stroke and 11 stroke mimics, as well as a high-risk control group of 79 individuals. Serum neuron-specific enolase (NSE) and S100 calcium binding protein B (S100B) biomarker levels were determined on admission, using immunoassay kits. The sensitivities and specificities of NSE and S100B for distinguishing acute stroke from stroke mimics and high-risk controls were calculated. RESULTS: For cut-off values (NSE ≤ 14 micrograms per litre and S100B ≤130 nanograms per litre) the sensitivity was 53% and 55% respectively. Specificity was 64 for both versus the stroke mimic group. Specificity was higher (79% and 86% respectively) when calculated on the basis of the control group. CONCLUSIONS: This study supports the evidence indicating that serum levels of NSE and S100B do not improve the diagnosis of acute stroke.

High proportion of mannosidosis and fucosidosis among lysosomal storage diseases in Cuba.

Although lysosomal storage disorders (LSDs) are considered individually rare, as a group they present a non-negligible frequency. Few studies have been made of populational occurrence of LSDs; they have been conducted predominantly on Caucasian populations. We studied the occurrence of LSDs in Cuba. Data from individuals who had been referred to the Institute of Neurology and Neurosurgery in Havana from hospitals all over the country between January 1990 and December 2005 were analyzed. This institute was the only laboratory to provide enzyme-based diagnostic testing for 19 LSDs in Cuba during this period. Occurrence rates were calculated by dividing the number of postnatal diagnoses by the number of births during the study period. The combined occurrence of LSDs in Cuba was 5.6 per 100,000, lower than that reported in other studies conducted on Caucasian populations. The most frequent individual LSDs were: mucopolysaccharidosis type I (1.01 per 100,000) and, surprisingly, alpha-mannosidosis (0.72 per 100,000) and fucosidosis (0.62 per 100,000). These findings may be related to specific genetic characteristics and admixture of the Cuban population. This is the first comprehensive study of the occurrence of LSDs in Cuba. We conclude that the epidemiology of these diseases can vary regionally, and we stress the need for similar surveys in other Latin American countries.

Mucopolisacaridosis: diagnóstico enzimático de 20 años en Cuba / Mucopolysaccharidosis: 20-year enzymatic diagnosis in Cuba

Introduction. Mucopolysaccharidoses (MPS), which belong to the family of inborn errors of metabolism, are characterised by their severe clinical manifestations (skeletal, neurological and visceral) and a chronic, progressive course leading to death at early stages of life. Aim. To accomplish an enzymatic diagnosis and characterise MPS within the Cuban population. Subjects and methods. A total of 664 patients with a clinical suspicion of some type of MPS were referred to theInstitute of Neurology and Neurosurgery in Havana in order to determine a possible enzymatic deficiency and to classify the type of MPS involved in each case. Enzymatic determinations of alpha-L-iduronidasa, alpha-N- cetylglucosaminidase, betagalactosidase,arylsulphatase B and beta-glucuronidase were performed in leukocyte homogenate for MPS I, IIIB, IVB, VI andVII, respectively, in patients, parents and controls. Results. In all, 42 cases of MPS were diagnosed: MPS I (62%, n = 26), MPS VI (29%, n = 12), MPS IIIB (7%, n = 3) and MPS IVB (2%, n = 1). No patients with MPS VII were identified. The patients diagnosed with MPS were of both sexes and ages ranged between 4 months and 10 years. The specific activity of the enzymesthat were studied was deficient in patients with respect to parents and controls. The percentage of activity was lower in patients compared to parents. Conclusions. These studies made it possible to evaluate the enzymatic deficiencies and to establish thediagnosis of MPS I, MPS IIIB, MPS IVB, MPS VI and MPS VII in the Cuban population (AU)

Introducción. Las mucopolisacaridosis (MPS), dentro de los errores innatos del metabolismo, se caracterizan por sus manifestaciones clínicas graves (esqueléticas, neurológicas y viscerales), con un curso crónico y progresivo, que conducena la muerte en etapas tempranas de la vida. Objetivo. Diagnosticar enzimáticamente y caracterizar las MPS en la población cubana. Sujetos y métodos. Se remitió un total de 664 pacientes con sospecha clínica de algún tipo de MPS al Instituto de Neurología y Neurocirugía de La Habana para determinar la posible deficiencia enzimática y clasificar el tipo de MPS.Las determinaciones enzimáticas de alfa-L-iduronidasa, N-alfa- etilglucosaminidasa, beta-galactosidasa, arilsulfatasa B y beta-glucuronidasa se realizaron en homogenado de leucocitos para MPS I, IIIB, IVB, VI y VII, respectivamente, en pacientes,padres y controles. Resultados. Se diagnosticaron 42 casos de MPS: MPS I (62%, n = 26), MPS VI (29%, n = 12), MPS IIIB (7%, n = 3) y MPS IVB (2%, n = 1). No se identificó ningún paciente con MPS VII. Los pacientes con MPS diagnosticados fueron de ambos sexos, y el rango de edad osciló de 4 meses a 10 años. La actividad específica de las enzimas estudiadas fue deficitaria en pacientes respecto a padres y controles. El porcentaje de actividad resultó inferior en pacientes respecto apadres. Conclusión. Estos estudios permitieron valorar las deficiencias enzimáticas y establecer el diagnóstico de las MPS I, IIIB, IVB, VI y VII en la población cubana (AU)

[Mucopolysaccharidosis: 20-year enzymatic diagnosis in Cuba]. / Mucopolisacaridosis: diagnostico enzimatico de 20 anos en Cuba.

INTRODUCTION: Mucopolysaccharidoses (MPS), which belong to the family of inborn errors of metabolism, are characterised by their severe clinical manifestations (skeletal, neurological and visceral) and a chronic, progressive course leading to death at early stages of life. AIM. To accomplish an enzymatic diagnosis and characterise MPS within the Cuban population. SUBJECTS AND METHODS: A total of 664 patients with a clinical suspicion of some type of MPS were referred to the Institute of Neurology and Neurosurgery in Havana in order to determine a possible enzymatic deficiency and to classify the type of MPS involved in each case. Enzymatic determinations of alpha-L-iduronidasa, alpha-N-acetylglucosaminidase, beta-galactosidase, arylsulphatase B and beta-glucuronidase were performed in leukocyte homogenate for MPS I, IIIB, IVB, VI and VII, respectively, in patients, parents and controls. RESULTS. In all, 42 cases of MPS were diagnosed: MPS I (62%, n = 26), MPS VI (29%, n = 12), MPS IIIB (7%, n = 3) and MPS IVB (2%, n = 1). No patients with MPS VII were identified. The patients diagnosed with MPS were of both sexes and ages ranged between 4 months and 10 years. The specific activity of the enzymes that were studied was deficient in patients with respect to parents and controls. The percentage of activity was lower in patients compared to parents. CONCLUSIONS: These studies made it possible to evaluate the enzymatic deficiencies and to establish the diagnosis of MPS I, MPS IIIB, MPS IVB, MPS VI and MPS VII in the Cuban population.

Mucopolisacaridosis: diagnóstico enzimático de 20 años en Cuba / Mucopolysaccharidosis: 20-year enzymatic diagnosis in Cuba

Las mucopolisacaridosis (MPS), dentro de los errores innatos del metabolismo, se caracterizan por sus manifestaciones clínicas graves (esqueléticas, neurológicas y viscerales), con un curso crónico y progresivo, que conducen a la muerte en etapas tempranas de la vida. Objetivo. Diagnosticar enzimáticamente y caracterizar las MPS en la población cubana. Sujetos y métodos. Se remitió un total de 664 pacientes con sospecha clínica de algún tipo de MPS al Instituto de Neurología y Neurocirugía de La Habana para determinar la posible deficiencia enzimática y clasificar el tipo de MPS. Las determinaciones enzimáticas de alfa-L-iduronidasa, N-alfa-acetilglucosaminidasa, beta-galactosidasa, arilsulfatasa B y beta-glucuronidasa se realizaron en homogenado de leucocitos para MPS I, IIIB, IVB, VI y VII, respectivamente, en pacientes, padres y controles...(AU)

[Mucopolysaccharidosis type I in the Cuban population]. / Mucopolisacaridosis tipo I en la población cubana.

INTRODUCTION: Of all the innate errors of the metabolism, the mucopolysaccharidoses (MPS), a kind of lysosomal disease, are especially significant because of the serious clinical features they give rise to and the therapeutic difficulties they entail. Diagnosis of the index case is essential so that families can gain access to the preventive benefits of genetic counselling. To date, seven types of MPS and 11 enzyme deficiencies have been described. AIMS: Patients with a clinical diagnosis that leads the clinician to suspect they may be suffering from some type of MPS are referred to the Institute of Neurology and Neurosurgery to determine the possible enzyme deficiencies that will provide us with the key to a successful diagnosis. PATIENTS AND METHODS: A total of 588 patients who were clinically suspected of suffering from MPS, in whom 1,502 enzyme analyses were performed in order to classify the type of MPS they were suffering from. The MPS under examination are MPS I, MPS IIIB, MPS IVB, MPS VI and MPS VII. RESULTS: MPS I, or alpha-L-iduronidase deficiency, is the most commonly found with 23 cases (4.08% of the patients studied); 13 were females and the other 10 were males. Of the 23 cases, 10 presented the severe Hurler phenotype with mental retardation, five had the Scheie phenotype with preserved intelligence and eight displayed the intermediate Hurler-Scheie phenotype. Diagnosis was reached before the end of the first year in eight patients, between 1 and 5 years in nine of them and between 6 and 10 years in two cases. Enzyme activity in leucocytes was significantly lower in patients as compared to a control group and with respect to the parents (heterozygotes), and even comparing these to the control group, with a slight and expected overlap. CONCLUSION: The biochemical methodology used allows us, then, to reach a sure biochemical diagnosis and to offer the families the benefits of genetic counselling.

Mucopolisacaridosis tipo I en la población cubana / Mucopolysaccharidosis type I in the cuban population

Introducción. Entre los errores innatos del metabolismo, las enfermedades lisosomales, entre las cuales se encuentran las mucopolisacaridosis (MPS), destacan por la gravedad de sus cuadros clínicos y por las dificultades terapéuticas. El diagnóstico del caso índice es crucial para que las familias puedan acceder a los beneficios preventivos del consejo genético. Hasta el presente se han descrito siete tipos de MPS y 11 déficit enzimáticos. Objetivos. Los pacientes con diagnóstico clínico sospechoso de padecer algún tipo de MPS se remiten al Instituto de Neurología y Neurocirugía para determinar las posibles deficiencias enzimáticas que nos darán la clave del diagnóstico. Pacientes y métodos. Se estudiaron 588 pacientes con sospecha clínica de padecer MPS, a los cuales se les realizaron 1.502 análisis enzimáticos para clasificar el tipo de MPS que padecían; las MPS que se investigan son MPS I, MPS IIIB, MPS IVB, MPS VI y MPS VII. Resultados. La MPS I o deficiencia de alfa-L-iduronidasa, con 23 casos, es la más frecuentemente encontrada (4,08 por ciento de los pacientes estudiados); 13 pacientes eran de sexo femenino. y 10, masculino. De los 23 casos, 10 presentaban el fenotipo Hurler grave con retraso mental; cinco, el fenotipo Scheie con inteligencia conservada, y ocho, el fenotipo intermedio Hurler-Scheie. El diagnóstico se alcanzó antes del primer año en ocho pacientes, entre 1 y 5 años en nueve y en dos entre 6 y 10 años. La actividad enzimática en los leucocitos fue significativamente más baja en los pacientes con respecto al grupo control y con respecto a los padres (heterocigotos), e incluso de estos últimos respecto al grupo control, con un ligero y esperado solapamiento. Conclusión. La metodología bioquímica utilizada permite, por tanto, lograr un diagnóstico bioquímico de certeza y ofrecer a las familias los beneficios del consejo genético (AU)

Introduction. Of all the innate errors of the metabolism, the mucopolysaccharidoses (MPS), a kind of lysosomal disease, are especially significant because of the serious clinical features they give rise to and the therapeutic difficulties they entail. Diagnosis of the index case is essential so that families can gain access to the preventive benefits of genetic counselling. To date, seven types of MPS and 11 enzyme deficiencies have been described. Aims. Patients with a clinical diagnosis that leads the clinician to suspect they may be suffering from some type of MPS are referred to the Institute of Neurology and Neurosurgery to determine the possible enzyme deficiencies that will provide us with the key to a successful diagnosis. Patients and methods. A total of 588 patients who were clinically suspected of suffering from MPS, in whom 1,502 enzyme analyses were performed in order to classify the type of MPS they were suffering from. The MPS under examination are MPS I, MPS IIIB, MPS IVB, MPS VI and MPS VII. Results. MPS I, or a-L-iduronidase deficiency, is the most commonly found with 23 cases (4.08% of the patients studied); 13 were females and the other 10 were males. Of the 23 cases, 10 presented the severe Hurler phenotype with mental retardation, five had the Scheie phenotype with preserved intelligence and eight displayed the intermediate Hurler-Scheie phenotype. Diagnosis was reached before the end of the first year in eight patients, between 1 and 5 years in nine of them and between 6 and 10 years in two cases. Enzyme activity in leucocytes was significantly lower in patients as compared to a control group and with respect to the parents (heterozygotes), and even comparing these to the control group, with a slight and expected overlap. Conclusion. The biochemical methodology used allows us, then, to reach a sure biochemical diagnosis and to offer the families the benefits of genetic counselling (AU)