[Update on the current role of plasma cholinesterase]. / Papel de las colinesterasas plasmáticas. Actualización.

The antagonism of steroidal nondepolarizing neuromuscular blockers (NDMBs) moved forward recently with the introduction of sugammadex, the only drug able to immediately reverse the effects of curarization produced by NDMBs. This advance has necessitated reflection on the future role of pseudocholinesterase. In spite of the side effects of succinylcholine and published opinions on its use, this NDMB continues to be used in clinical anesthesia. Pseudocholinesterase is mainly found in the liver, plasma, and nervous system. The enzyme is synthesized in the liver in greater amounts than required although certain conditions lead to deficiency, which is usually asymptomatic. The only clinical expression is the apnea which develops after administration of succinycholine because this NDMB cannot be metabolized. In some patients, slight reductions in the antagonism of succinylcholine lead to rising neuromuscular concentrations of the drug in accordance with the degree and duration of the blockade. We review the various forms of pseudocholinesterase deficiency, including a discussion of genetic variants, clinical manifestations, and management. In addition to discussing the diagnosis of this condition and the clinical implications, we highlight the importance of practice protocols and access to a referral laboratory if one is not available within the immediate hospital.

[Salmon patch: a descriptive study]. / Mancha salmón: estudio descriptivo.

BACKGROUND AND OBJECTIVES: salmon patch is a congenital venous malformation that usually affects the midline. Although it is very common, few studies have analyzed its prevalence or predisposing factors. The aim of this study was to determine the prevalence and clinical characteristics of salmon patch in a group of newborn infants from a health care area in northwest Spain and to assess its association with neonatal and maternal variables. PATIENTS AND METHODS: a descriptive study was undertaken of live newborn children seen in the neonatal unit of the Department of Pediatrics at Hospital Arquitecto Marcide, Ferrol, Spain between May 1, 2008 and January 31, 2009. The study protocol included collection of data on neonatal variables (including gestational age, sex, ethnic origin, weight, and presence and anatomical site of salmon patch) and maternal variables (including age and number of previous pregnancies). RESULTS: of the 600 newborn infants included in the study, 59% had salmon patches. The most commonly affected sites were the nape of the neck (226 infants, 37.6%) and eyelids (211 infants, 35.1%). In a number of cases, more than one part of the body was affected. There was a higher prevalence of salmon patch in full-term or post-term births, in girls, white children, heavier children, and infants born to mothers aged between 30 and 34 years or who had not been pregnant previously. CONCLUSIONS: salmon patch occurred most frequently on the nape of the neck, the eyelids, and the glabella. Its prevalence was associated with certain neonatal and maternal factors.

[Influence of neonatal and maternal factors on the prevalence of vernix caseosa]. / Influencia de los factores neonatales y maternos en la prevalencia de vérnix caseosa.

At birth, vernix caseosa can cover the whole body surface or accumulate only on the back and in the skin folds. Interest in its composition and function and its possible applications in adults has increased in recent years. The objective of this study was to determine the prevalence of vernix caseosa in newborn infants in the health care area of Ferrol, Spain, and to assess its relationship with neonatal and maternal factors. We performed a prospective study of 1000 newborns seen within the first 3 days of life in our hospital. Vernix caseosa was observed in 42.9% of cases. The clinical profile associated with the presence of vernix caseosa was the following: healthy newborn girl with a high birth weight, born at term by normal vaginal delivery to a multiparous mother who had received medication and dietary supplements during pregnancy. The absence of vernix caseosa was associated with the presence of physiological scaling of the newborn and erythema toxicum neonatorum.

[3-hydroxy-3-methylglutaric aciduria and recurrent Reye-like syndrome]. / Aciduria 3-hidroxi-3-metilglutárica y síndrome Reye-like recurrente.

INTRODUCTION: 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency (HMG-CoA lyase) is an inborn error of ketogenesis and Leucine catabolism. HMG-CoA lyase catalyses the final step in leucine degradation, converting HMG-CoA to acetyl-CoA and acetoacetic acid. Clinical manifestations include hepatomegaly, lethargy or coma and apnoea. Biochemically there is a characteristic absence of ketosis with hypoglycemia, acidosis, hipertransaminasemia and variable hyperammoniemia. The urinary organic acid profile includes elevated concentrations of 3-hydroxy-3-isovaleric, 3-hydroxy-3-methylglutaric, 3-methylglutaconic and 3-methylglutaric acids. CLINICAL CASE: Here, we report the case of a 17-year-old girl who presented in both ten months and five years of age a clinical picture characterized by lethargy leading to apnea and coma, hepatomegaly, hypoglycemia, metabolic acidosis, hyperammoniemia, elevated serum transaminases and absence of ketonuria. Diagnostic of Reye syndrome was suggested by hystopathologic finding of hepatic steatosis and clinical and biochemical data. As of 11 years old, laboratory investigations revealed carnitine deficiency and characteristic aciduria. Confirmatory enzyme diagnosis revealing deficiency of HMG-CoA lyase was made in cultured fibroblasts. CONCLUSION: Our report constitutes an example of the presentation of HMG-CoA lyase deficiency as recurrent Reye-like syndrome.

Estudio prospectivo de la hiperpigmentación del área genital en recién nacidos españoles: frecuencia y factores predisponentes / Prospective study of hyperpigmentation of the genital area in Spanish newborns: frequency and predisposing factors

Realizamos un estudio prospectivo de 1.000 recién nacidos vistos en las primeras 72 horas de vida en el Área Sanitaria de Ferrol (noroeste de España)con el objetivo de conocer la prevalencia de la hiperpigmentación del área genital y ver como influyen, en su aparición, los factores neonatales y maternos, el momento de exploración y la modalidad de parto. La frecuencia de la hiperpigmentación genital fue del 15,3%. Encontramos una prevalencia superior en los neonatos no caucásicos (p = 0,000) de sexo masculino (p = 0,000), con mancha mongólica (p = 0,000), nacidos por vía vaginal (p =0,030) y con madre menor de 30 años (p = 0,006) y con al menos 2 gestaciones previas (p = 0,015) (AU)

We performed a prospective study of 1,000 neonates investigated in the first 72 hours of life in the Health Area of Ferrol (northwest of Spain), in order to assess the prevalence of hyperpigmentation of the genital area, the influence of different maternal and neonatal parameters, day of neonatalexploration and type of delivery. Overall frequency of hyperpigmentation was 15.3%. We found a higher prevalence of this dermatosis in non-Caucasian infants (p = 0.000) of male sex (p = 0.000), with Mongolian spot (p = 0.000), vaginal delivery (p = 0.030), maternal age below 30 years (p =0.006) and at least two previous pregnancies (p = 0.015) (AU)

Mancha salmón: estudio descriptivo / Salmon Patch: a Descriptive Study

Introducción: la mancha salmón es una malformación venular congénita que tiene predilección por la línea media. Aunque es muy frecuente, hay pocos estudios que analicen su frecuencia y los factores que predisponen su aparición. Nuestro objetivo es conocer su prevalencia y características clínicas en los recién nacidos de nuestra Área Sanitaria, y ver cómo influyen los parámetros neonatales y maternos. Pacientes y métodos: estudio descriptivo donde fueron reclutados, entre el 1 de mayo de 2008 y el 31 de enero de 2009, los recién nacidos vivos vistos en una consulta de Perinatología del Servicio de Pediatría del Hospital Arquitecto Marcide, (Ferrol, España). En cada caso se recogieron de forma protocolizada: a) datos del neonato, edad gestacional, sexo, raza, peso, presencia y localización anatómica de la mancha salmón; y b) datos de la madre, edad y número de gestaciones previas. Resultados: presentaba mancha salmón el 59% de los 600 neonatos revisados. La nuca y los párpados fueron las localizaciones más comunes, con 226 (37,6%) y 211 pacientes (35,1%) respectivamente. Muchas veces había más de un área corporal afecta. Se observó una prevalencia mayor en los recién nacidos a término o postérmino, de sexo femenino, caucasiano, con mayor peso, con madre con una edad comprendida entre 30 y 34 años y sin gestaciones previas. Conclusiones: la mancha salmón se localiza sobre todo en la nuca, los párpados y la glabela. Determinados factores neonatales y maternos influyen en su prevalencia (AU)

Background and objectives: salmon patch is a congenital venous malformation that usually affects the midline. Although it is very common, few studies have analyzed its prevalence or predisposing factors. The aim of this study was to determine the prevalence and clinical characteristics of salmon patch in a group of newborn infants from a health care area in northwest Spain and to assess its association with neonatal and maternal variables. Patients and methods: a descriptive study was undertaken of live newborn children seen in the neonatal unit of the Department of Pediatrics at Hospital Arquitecto Marcide, Ferrol, Spain between May 1, 2008 and January 31, 2009. The study protocol included collection of data on neonatal variables (including gestational age, sex, ethnic origin, weight, and presence and anatomical site of salmon patch) and maternal variables (including age and number of previous pregnancies). Results: of the 600 newborn infants included in the study, 59% had salmon patches. The most commonly affected sites were the nape of the neck (226 infants, 37.6%) and eyelids (211 infants, 35.1%). In a number of cases, more than one part of the body was affected. There was a higher prevalence of salmon patch in full-term or post-term births, in girls, white children, heavier children, and infants born to mothers aged between 30 and 34 years or who had not been pregnant previously. Conclusions: salmon patch occurred most frequently on the nape of the neck, the eyelids, and the glabella. Its prevalence was associated with certain neonatal and maternal factors (AU)

Influencia de los factores neonatales y maternos en la prevalencia de vérnix caseosa / Influence of Neonatal and Maternal Factors on the Prevalence of Vernix Caseosa

Al nacimiento la vérnix caseosa puede cubrir toda la superficie corporal o acumularse sólo en la espalda y los pliegues. En los últimos años ha aumentado el interés por su composición, funciones y aplicaciones en la edad adulta. Nuestro objetivo fue conocer la prevalencia de la vérnix caseosa en los recién nacidos del Área Sanitaria de Ferrol, y ver cómo repercutían los parámetros neonatales y maternos en su desarrollo. Realizamos un estudio prospectivo de 1.000 recién nacidos vistos en los primeros tres días de vida en nuestro hospital. Encontramos vérnix caseosa en el 49,2% de los neonatos. El perfil clínico de presencia de vérnix caseosa sería: recién nacido de sexo femenino, sano, a término, con peso elevado producto de una gestante no primigesta, con ingesta de fármacos y suplementos dietéticos durante el embarazo sometida a un parto eutócico. Existe relación entre ausencia de vérnix caseosa y la presencia de descamación fisiológica y de eritema tóxico neonatal (AU)

At birth, vernix caseosa can cover the whole body surface or accumulate only on the back and in the skin folds. Interest in its composition and function and its possible applications in adults has increased in recent years. The objective of this study was to determine the prevalence of vernix caseosa in newborn infants in the health care area of Ferrol, Spain, and to assess its relationship with neonatal and maternal factors. We performed a prospective study of 1000 newborns seen within the first 3days of life in our hospital. Vernix caseosa was observed in 42.9% of cases. The clinical profile associated with the presence of vernix caseosa was the following: healthy newborn girl with a high birth weight, born at term by normal vaginal delivery to a multiparous mother who had received medication and dietary supplements during pregnancy. The absence of vernix caseosa was associated with the presence of physiological scaling of the newborn and erythema toxicum neonatorum (AU)

Papel de las colinesterasas plasmáticas. Actualización / Update on the current role of plasma cholinesterase

Las novedades recientemente manifestadas en el campo de la antagonizacion de los relajantes neuromusculares no despolarizantes (BNMND) esteroideos, nos ha hecho revisar cual es o seguirá siendo en el futuro el rol que realizaran las enzimas plasmáticas seudocolinesterasas (CP SC) Con la introducción del sugamadex única molécula capaz de antagonizar de forma inmediata los efectos de la curarizacion producida por este tipo de bloqueantes neuromusculares (BNM) A pesar de sus efectos colaterales y la opinion encontrada de numerosos autores, la succinilcolina (SCH) sigue siendo un bloqueante neuromuscular despolarizante (BNMD) utilizado en el mundo de la anestesia clínica. La colinesterasa plasmática (CP), se encuentra presente principalmente en el hígado, plasma y sistema nervioso. Es sintetizada en el hígado en cantidades supriores a las necesarias. Asimismo puede presentarse en cantidades menores en diferentes situaciones patológicas. Los pacientes con déficit de CP son generalmente asintomáticos, y sólo tiene expresión clínica, mediante la aparición de apnea succinilcolínica, tras la administración de succinilcolina, por imposibilidad de metabolizar este fármaco. En algunos sujetos pequeñas disminuciones de la inactivación de la succinilcolina, producen un gran incremento del fármaco en la placa neuromuscular, del grado y duración del bloqueo. En esta revisión hacemos un repaso de los déficit de CP sus diferentes alteraciones por variantes genéticas, su clínica y su tratamiento. Además de sus implicaciones clínicas y método de diagnostico sin olvidar la importancia de tener elaborados protocolos de actuación y posibilidad de tener un laboratorio de referencia si no se determinan en nuestro medio hospitalario(AU)

The antagonism of steroidal nondepolarizing neuromuscular blockers (NDMBs) moved forward recently with the introduction of sugammadex, the only drug able to immediately reverse the effects of curarization produced by NDMBs. This advance has necessitated reflection on the future role of pseudocholinesterase. In spite of the side effects of succinylcholine and published opinions on its use, this NDMB continues to be used in clinical anesthesia. Pseudocholinesterase is mainly found in the liver, plasma, and nervous system. The enzyme is synthesized in the liver in greater amounts than required although certain conditions lead to deficiency, which is usually asymptomatic. The only clinical expression is the apnea which develops after administration of succinycholine because this NDMB cannot be metabolized. In some patients, slight reductions in the antagonism of succinylcholine lead to rising neuromuscular concentrations of the drug in accordance with the degree and duration of the blockade. We review the various forms of pseudocholinesterase deficiency, including a discussion of genetic variants, clinical manifestations, and management. In addition to discussing the diagnosis of this condition and the clinical implications, we highlight the importance of practice protocols and access to a referral laboratory if one is not available within the immediate hospital(AU)