[Malama project in the Region of Murcia (Spain): environment and breastfeeding]. / Proyecto Malama en la Región de Murcia (España): medio ambiente y lactancia materna.

OBJECTIVES: To identify protective factors and risk factors for the initiation and length of breastfeeding and full breastfeeding, in the Region of Murcia (Spain). PATIENTS AND METHODS: The Malama study (Medio Ambiente y Lactancia Materna) is a follow up study from birth up to years of 1,000 mother-child pairs. A description of breastfeeding practices are presented here, the survival curve of breastfeeding and a Cox regression model of the pilot study that includes 101 mother-child pairs and 6 months of follow-up. RESULTS: After six months the prevalence of breastfeeding was 35 %. The mean duration of full breastfeeding was 63 days (median 45 days) with six months prevalence of 8 %. Hazard ratios (HR) for full breastfeeding were, to be a smoker (1.89; 95 % CI: 1.18-3.02), older than 35 years of age (2.04; 95 % CI: 1.22-3.42), caesarean birth (1.63; 95 % CI: 1.00-2.66). As well as those previously mentioned risks for breastfeeding, there were also hazard ratios for primary school education or less (1.63; 95 % CI: 0.98-2.82); to have breastfed an earlier child for at least 16 weeks (0.33; 95 % CI: 0.13-0.79), and to be the first birth (0.50; 95 % CI: 0.27-0.95). The length of both breastfeeding and full breastfeeding increased with the length of the maternal leave (0.96; 95 % CI: 0.94-0.99). Pregestational occupational exposure to endocrine disruptors did not seem to interfere with the duration of breastfeeding. CONCLUSIONS: In order to improve quality and duration of breastfeeding programmes, paediatric research and training on breastfeeding practice should be encouraged, to reduce unnecessary caesarean sections, promote tobacco cessation, focus human and economic resources to women with less education, and include legal mechanisms to ensure longer maternal leave.

Proyecto Malama en la Región de Murcia (España): medio ambiente y lactancia materna / Malama project in the Region of Murcia (Spain): environment and breastfeeding

Objetivo: Estudiar los factores protectores y de riesgo de la calidad y duración de la lactancia materna completa (LMC) y total (LMT) en la Región de Murcia. Pacientes y métodos: El estudio Malama (medio ambiente y lactancia materna) realiza un seguimiento de 1.000 parejas madre-hijo desde el nacimiento hasta los 2 años. Aquí presentamos la descripción, supervivencia de la lactancia y regresión de Cox del estudio piloto con 101 parejas y 6 meses de seguimiento. Resultados: La duración media de la LMC fue de 63 días (mediana de 45) y prevalencia a los 6 meses del 8 %. La prevalencia de LMT fue del 35 %. Riesgo relativo (RR) para LMC eran ser madre fumadora (1,89; intervalo de confianza del 95 % [IC 95 %]: 1,18-3,02), mayor de 35 años (2,04; IC 95 %: 1,22-3,42), con parto por cesárea (1,63; IC 95 %: 1,00-2,66); y para LMT, además de las anteriores el tener sólo estudios primarios (1,63; IC 95 %: 0,98-2,82); haber lactado antes al menos 16 semanas (0,33; IC 95 %: 0,13-0,79); primer hijo/a (0,50; IC 95 %: 0,27-0,95). La duración de LMC y LMT crecían con la mayor duración de la baja maternal (0,96; IC 95 %: 0,94-0,99). La exposición laboral pregestacional a disruptores endocrinos no parece interferir con la duración de la lactancia. Conclusiones: Los programas de protección-promoción de la LM deberían aumentar la investigación y formación pediátrica en LM, disminuir las cesáreas innecesarias, fomentar la deshabituación tabáquica, dedicar más recursos a las mujeres con menos estudios e incluir mecanismos legales que prolonguen la baja por maternidad para conseguir una lactancia más duradera y de mejor calidad (AU)

Objectives: To identify protective factors and risk factors for the initiation and length of breastfeeding and full breastfeeding, in the Region of Murcia (Spain). Patients and methods: The Malama study (Medio Ambiente y Lactancia Materna) is a follow up study from birth up to years of 1,000 mother-child pairs. A description of breastfeeding practices are presented here, the survival curve of breastfeeding and a Cox regression model of the pilot study that includes 101 mother-child pairs and 6 months of follow-up. Results: After six months the prevalence of breastfeeding was 35 %. The mean duration of full breastfeeding was 63 days (median 45 days) with six months prevalence of 8 %. Hazard ratios (HR) for full breastfeeding were, to be a smoker (1.89; 95 % CI: 1.18-3.02), older than 35 years of age (2.04; 95 % CI: 1.22-3.42), caesarean birth (1.63; 95 % CI: 1.00-2.66). As well as those previously mentioned risks for breastfeeding, there were also hazard ratios for primary school education or less (1.63; 95 % CI: 0.98-2.82); to have breastfed an earlier child for at least 16 weeks (0.33; 95 % CI: 0.13-0.79), and to be the first birth (0.50; 95 % CI: 0.27-0.95). The length of both breastfeeding and full breastfeeding increased with the length of the maternal leave (0.96; 95 % CI: 0.94-0.99). Pregestational occupational exposure to endocrine disruptors did not seem to interfere with the duration of breastfeeding. Conclusions: In order to improve quality and duration of breastfeeding programmes, paediatric research and training on breastfeeding practice should be encouraged, to reduce unnecessary caesarean sections, promote tobacco cessation, focus human and economic resources to women with less education, and include legal mechanisms to ensure longer maternal leave (AU)

Importancia diagnóstica de los signos de hipocinesia fetal en la atrofia muscular espinal de presentación neonatal / Role of signs of fetal hypokinesia in the diagnosis of spinal muscular atrophy of neonatal onset

Introducción: La atrofia muscular espinal (AME) se caracteriza por la degeneración precoz de las neuronas motoras del asta anterior, cuya forma de presentación neonatal más frecuente y grave es la enfermedad de Werdnig-Hoffmann. Las características neurológicas y genéticas de la AME son bien conocidas, siendo el objetivo de este estudio analizar sus características dismorfológicas. Pacientes y métodos: En este trabajo se presenta el análisis de los 10 casos de AME identificados entre 27.864 recién nacidos consecutivos con defectos congénitos registrados en el Estudio Colaborativo Español de Malformaciones Congénitas (ECEMC) desde abril de 1976 a diciembre de 1998. Así mismo, se expone un caso clínico de AME neonatal en el que se asociaban los signos clásicos de la secuencia deformativa de hipocinesia fetal. Resultados: La estimación mínima de la prevalencia de AME con defectos congénitos en nuestro medio es de 0,32 por 100.000 recién nacidos vivos. Encontramos una relación niños:niñas de 3,5. Los defectos congénitos asociados con mayor frecuencia en nuestra población de AME neonatal se encuentran localizados en extremidades (principalmente artrogriposis), cara y tórax, y que pueden ser explicados por la hipomovilidad fetal intrínseca secundaria a la enfermedad neuromuscular. Las características de la secuencia deformativa de hipocinesia fetal se describen en el caso clínico presentado: parto distócico, cordón umbilical corto, polihidramnios, retraso del crecimiento intrauterino, malformaciones craneofaciales, anomalías esqueléticas con contracturas articulares múltiples, hipoplasia pulmonar, etc. Conclusiones: Es importante reconocer los defectos congénitos asociados a las enfermedades neuromusculares, debido a que en ocasiones los signos dismorfológicos pueden ser más llamativos que los neurológicos en el período neonatal. Y, en concreto, la AME neonatal que, en su mayor espectro, se manifiesta con las características de una secuencia deformativa de hipocinesia fetal (AU)

[Role of signs of fetal hypokinesia in the diagnosis of spinal muscular atrophy of neonatal onset]. / Importancia diagnóstica de los signos de hipocinesia fetal en la atrofia muscular espinal de presentación neonatal.

INTRODUCTION: Spinal muscular atrophy (SMA) is characterized by early degeneration of anterior horn cells. The most frequent and severe type of neonatal onset is Werdnig-Hoffmann disease. The neurologic and genetic characteristics of SMA are well-known. The aim of this study was to analyze the dysmorphologic features of this disease. PATIENTS AND METHODS: We present an analysis of 10 cases of SMA identified among 27,864 infants with congenital defects registered by the Spanish Collaborative Study of Congenital Malformations (ECEMC) between April 1976 and December 1998. We also report a clinical case of neonatal SMA presenting the classical signs of fetal hypokinesia deformation sequence. RESULTS: The minimum estimation of the prevalence of SMA with congenital defects in our population is 0.32 per 100,000 live births. We found a male-to-female ratio of 3.5. The most frequently associated congenital defects in our population of neonatal SMA were located in the extremities (mainly arthrogryposis), face and thorax and could be explained by intrinsic fetal hypomobility secondary to the neuromuscular disorder. The characteristics of fetal hypokinesia deformation sequence are discussed in the case report presented herein: dystocic delivery, short umbilical cord, polyhydramnios, intrauterine growth retardation, craniofacial malformations, skeletal abnormalities with multiple articular contractures, pulmonary hypoplasia, etc. CONCLUSIONS: It is important to recognize the congenital defects associated with neuromuscular disorders, because dysmorphologic features are sometimes more marked than neurologic features in the neonatal period and because of the wide spectrum of congenital defects in neonatal SMA that result in a fetal hypokinesia deformation sequence.

[The Townes-Brocks syndrome in Spain: the epidemiological aspects in a consecutive series of cases]. / Síndrome de Townes-Brocks en España: aspectos epidemiológicos en una serie consecutiva de casos.

INTRODUCTION: Townes-Brocks syndrome is constituted by a multi-systemic pattern of congenital anomalies with autosomal dominant inheritance. The most characteristic defects are those affecting hearing and the auricle, anal atresia and thumb anomalies. PATIENTS AND METHODS: We present the epidemiological characteristics of six cases of Townes-Brocks syndrome identified in the consecutive series of 25,967 malformed live born infants detected among 1,431,368 live births surveyed by the ECEMC (Spanish Collaborative Study of Congenital Malformations) between April 1976 and June 1997. RESULTS AND CONCLUSIONS: The minimal estimated frequency of Townes-Brocks syndrome in our data is 0.42 cases per 100,000 liveborn infants. These infants have low birth weights. Similar to other published studies, we have observed in our cases a wide variation in the clinical expression of the syndrome, showing great inter-family, as well as intrafamily variability.

[Fraser syndrome: frequency in our environment and clinical-epidemiological aspects of a consecutive series of cases]. / Síndrome de Fraser: frecuencia en nuestro medio y aspectos clínico-epidemiológicos de una serie consecutiva de casos.

OBJECTIVE: Four major characteristics (cryptophthalmos, syndactyly, genital anomalies and affected siblings) and eight minor characteristics (alterations of the nose, ears, larynx, oral clefts, umbilical hernia, renal agenesis, skeletal anomalies and mental retardation) have been defined for the diagnosis of Fraser syndrome. The generally accepted criterion for the diagnosis is at least the presence of 2 major and one minor characteristic, or one major and four minor characteristics. The etiology of the syndrome is autosomal recessive and siblings are frequently affected. PATIENTS AND METHODS: We show the characteristics of the 7 cases of Fraser syndrome identified in the consecutive series of 1,405,374 liveborn infants and 9,042 stillborn children surveyed by the Spanish Collaborative Study of Congenital Malformations (ECEMC) between April 1976 and March 1997. RESULTS AND CONCLUSIONS: The minimal estimated frequency of Fraser syndrome is 0.43 per 100,000 liveborn infants and 11.06 per 100,000 stillbirths. As has been shown in other case studies, we have observed a wide clinical expression of this syndrome. At present it is possible to prenatally detect some of the characteristics of Fraser syndrome through ultrasound examination of eyes, digits and kidneys. Four out of the 7 cases we present here were gypsies and the frequency of the syndrome among liveborn gypsy infants is 129.3 times higher than among the non-gypsy population. Therefore, given that the frequency of the gene is higher in the gypsy population than in other ethic groups, it is recommended that a special search among gypsies for the identification of this and other autosomal recessive syndromes be performed.

[Syndromes with neural tube defects: epidemiologic analysis in Spain]. / Síndromes con defectos del tubo neural: análisis epidemiológico en España.

OBJECTIVE: We present, from an epidemiological perspective, the analysis of syndromes which present neural tube defects (NTD). Although there are many epidemiological studies on NTD all over the world, most of them are on isolated NTD; that is, when the infant only has NTD as the only anomaly. PATIENTS AND METHODS: The methodology is based on the review of hospital records of infants with congenital anomalies. This permitted the analysis of the prevalence. RESULTS: The results show that the frequency of syndromes with NTD is 27.5 time higher among stillborn infants than among liveborn infants. Nevertheless, there are not many syndromes in which the NTD are present more or less frequently. In fact, only 1.93% of the total cases with syndromes presented NTD, with the majority (43.4%) with genetic etiology. We also analyze the specific types of syndromes with NTD.