Broadening the phenotypic spectrum of POP1-skeletal dysplasias: identification of POP1 mutations in a mild and severe skeletal dysplasia.

Processing of Precursor 1 (POP1) is a large protein common to the ribonuclease-mitochondrial RNA processing (RNase-MRP) and RNase-P (RMRP) endoribonucleoprotein complexes. Although its precise function is unknown, it appears to participate in the assembly or stability of both complexes. Numerous RMRP mutations have been reported in individuals with cartilage-hair hypoplasia (CHH) but, to date, only three POP1 mutations have been described in two families with features similar to anauxetic dysplasia (AD). We present two further individuals, one with severe short stature and a relatively mild skeletal dysplasia and another in whom AD was suspected. Biallelic POP1 mutations were identified in both. A missense mutation and a novel single base deletion were detected in proband 1, p.[Pro582Ser]:[Glu870fs*5]. Markedly reduced abundance of RMRP and elevated levels of pre5.8s rRNA was observed. In proband 2, a homozygous novel POP1 mutation was identified, p.[(Asp511Tyr)];[(Asp511Tyr)]. These two individuals show the phenotypic extremes in the clinical presentation of POP1-dysplasias. Although CHH and other skeletal dysplasias caused by mutations in RMRP or POP1 are commonly cited as ribosomal biogenesis disorders, recent studies question this assumption. We discuss the past and present knowledge about the function of the RMRP complex in skeletal development.

Enfermedad de Kawasaki / Kawasaki disease

La enfermedad de Kawasaki es una vasculitis multisistémica de pequeños y medianos vasos, propia de lactantes y niños pequeños. Es muy frecuente en Japón. Su etiología es desconocida, pero la mayoría de las evidencias epidemiológicas e inmunológicas indican que el agente causal es probablemente infeccioso. El diagnóstico se basa en una serie de criterios clínicos. El exantema polimorfo puede ser confundido con otras entidades clínicas. El tratamiento debe ser lo más precoz posible con el fin de prevenir las complicaciones cardiacas (AU)

Kawasaki disease is a multisystemic vasculitis syndrome of small and medium vessel typical in breast fed babies and early childhood. It is very common in Japan. The aetiology is unknown however most epidemiologic and immunologic evidences indicate that the causal agent is probably infectious. The diagnosis is based on clinical criteria. Polymorphous exanthema can be mistaken with other clinical forms. The treatment must be done as soon as possible with the aim of preventing any cardiac complications (AU)

Lactante con hepatoesplenomegalia y alteraciones óseas / Infant with hepatosplenomegaly and bone alterations

La sífilis congénita es una enfermedad rara pero importante que, aunque es prevenible, continúa siendo en muchas partes del mundo un problema de salud pública. Presentamos un caso de sífilis congénita en una lactante de 5 meses, que debutó con hepatoesplenomegalia y alteraciones óseas, para recordar que la sífilis congénita todavía sigue existiendo en los países desarrollados y destacar la importancia de unos adecuados programas de cribado prenatal (AU)

Congenital syphilis is a rare and serious disease that although preventable continues to be a major health care problem. We report a case of congenital syphilis in an infant with hepatosplenomegaly and bone alterations, to emphasize that congenital syphilis still exists in developed countries. It is very important the implementation of prenatal care delivery systems (AU)

[Scrotal hair in infants]. / Vello escrotal en lactantes.

The presence of pubic hair is exceptional in healthy infants of both sexes. In most of the cases described in the literature, the process was self-limited and no etiology was found. Nevertheless, in some patients, this finding has been associated with other manifestations of hyperandrogenism related to potentially serious diseases such as congenital adrenal hyperplasia or virilizing tumors. In the present article, we describe seven infants followed-up in the Pediatric Endocrine Clinic because of scrotal hair. In all patients, the process was self-limited and resolved spontaneously and no hormonal or developmental alterations were observed. Key words: Scrotal hair, infants, virilization.

Vello escrotal en lactantes / Scrotal hair in infants

La aparición de vello sexual es excepcional en los lactantes de ambos sexos. La mayoría de los casos descritos en la bibliografía constituyen procesos autolimitados, en los que su etiología no ha sido definida. Sin embargo, en algunos casos se ha asociado con otras manifestaciones de hiperandrogenismo relacionadas con procesos potencialmente graves como son la hiperplasia suprarrenal congénita y tumores productores de andrógenos. En el presente artículo se describe los casos de 7 lactantes varones que fueron vistos en la consulta de endocrinología pediátrica por vello escrotal. En todos ellos el proceso fue autolimitado, sin que se observaran alteraciones hormonales o en el desarrollo (AU)

The presence of pubic hair is exceptional in healthy infants of both sexes. In most of the cases described in the literature, the process was self-limited and no etiology was found. Nevertheless, in some patients, this finding has been associated with other manifestations of hyperandrogenism related to potentially serious diseases such as congenital adrenal hyperplasia or virilizing tumors. In the present article, we describe seven infants followed-up in the Pediatric Endocrine Clinic because of scrotal hair. In all patients, the process was self-limited and resolved spontaneously and no hormonal or developmental alterations were observed (AU)

[Group therapy for the treatment of obesity in children and adolescents]. / Terapia de grupo para el tratamiento de la obesidad infantil.

THERAPY: Although obesity is one of the leading health problems in developed countries, effective treatment is lacking. The aim of the present study was to determine whether group therapy is more efficient in inducing weigh loss than individual therapy in the pediatric age group. EXPERIMENTAL DESIGN: Fifty obese patients, 15 preadolescents and 33 adolescents (12 boys and 23 girls) were studied. In all patients, dietary intake was modified to reduce calorie intake. Initially all patients were followed-up individually every 3 months (individual therapy) until the beginning of group therapy when the patients were seen monthly in groups of 10-15 patients with their parents (preadolescents) or alone (adolescents). In the group sessions, talks were given about diet and exercise. In each session, the patient who had shown the greatest improvement in habits and weight loss received a prize. The patients were followed-up for 2 years, with individual therapy in the first year and group therapy in the second. Differences in body mass index (BMI) z-score before the beginning of therapy and during therapy were analyzed using Student's paired T test. RESULTS: With individual therapy, no changes in BMI z-score were observed throughout the study. In contrast, with group therapy, BMI z-score decreased in all the groups studied. During the 1-year follow-up with individual therapy, 60 % of the patients gained more than 5 kg. With group therapy, only 10 % of patients gained more than 5 kg. CONCLUSIONS: In obese children and adolescents, group therapy was more efficient than individual therapy in inducing weight loss.

Terapia de grupo para el tratamiento de la obesidad infantil / Group therapy for the treatment of obesity in children and adolescents

Objetivos. No existen formas eficaces de tratamiento de la obesidad a pesar de constituir uno de los principales problemas sanitarios de los países desarrollados. En el presente trabajo estudiamos si la terapia de grupo es más eficaz para perder peso que la terapia individual en la edad pediátrica. Métodos. Se seleccionó un grupo de 50 pacientes obesos; 15 niños preadolescentes y 35 adolescentes (12 niños y 23 niñas). En todos ellos, tras la revisión de la dieta se introdujeron modificaciones para disminuir la ingesta calórica. Los niños fueron seguidos trimestralmente (terapia individual) hasta que se inició la terapia de grupo, realizándose a partir de entonces visitas mensuales en grupos de 10-15 niños, junto con sus padres (los preadolescentes) o solos (adolescentes). En las sesiones se comentaron temas nutricionales y formas de incrementar la actividad física. Además se dio un premio al niño que conseguía mejorar sus hábitos y perdía peso. Los pacientes fueron controlados durante 2 años, el primero con terapia individual y el segundo con terapia de grupo. Utilizando el test de la T-pareada se comparó la diferencia entre la z-score del índice de masa corporal (IMC) al inicio del tratamiento y durante el mismo. Resultados. Con la terapia individual no se observaron cambios en la z-score del IMC a lo largo del tiempo de seguimiento, mientras que con la terapia de grupo se observó una disminución significativa en todos los grupos. Durante el año de seguimiento con terapia individual un 60 % de los niños ganaron más de 5 kg, comparado con el 10 % observado durante la terapia de grupo. Conclusiones. En niños y adolescentes obesos, la terapia de grupo resultó más eficaz para perder peso que la terapia individual

Therapy. Although obesity is one of the leading health problems in developed countries, effective treatment is lacking. The aim of the present study was to determine whether group therapy is more efficient in inducing weigh loss than individual therapy in the pediatric age group. Experimental design. Fifty obese patients, 15 preadolescents and 33 adolescents (12 boys and 23 girls) were studied. In all patients, dietary intake was modified to reduce calorie intake. Initially all patients were followed-up individually every 3 months (individual therapy) until the beginning of group therapy when the patients were seen monthly in groups of 10-15 patients with their parents (preadolescents) or alone (adolescents). In the group sessions, talks were given about diet and exercise. In each session, the patient who had shown the greatest improvement in habits and weight loss received a prize. The patients were followed-up for 2 years, with individual therapy in the first year and group therapy in the second. Differences in body mass index (BMI) z-score before the beginning of therapy and during therapy were analyzed using Student's paired T test. Results. With individual therapy, no changes in BMI z-score were observed throughout the study. In contrast, with group therapy, BMI z-score decreased in all the groups studied. During the 1-year follow-up with individual therapy, 60 % of the patients gained more than 5 kg. With group therapy, only 10 % of patients gained more than 5 kg. Conclusions. In obese children and adolescents, group therapy was more efficient than individual therapy in inducing weight loss