Enfermedad de Blount: a propósito de un caso / Blount disease: a case report

La enfermedad de Blount o tibia vara es una alteración del desarrollo que afecta al cartílago de crecimiento proximal de la tibia. Es una entidad poco frecuente y de probable origen multifactorial, cuya etiología no está aclarada. Provoca una deformidad progresiva con un arqueamiento de las extremidades inferiores en forma de genu varo. En la variante precoz es más frecuente la afectación bilateral por lo que en los casos leves puede ser difícil diferenciar del genu varo fisiológico. Presentamos el caso de una niña de 15 meses de origen africano que presenta un genu varo bilateral progresivo. Tras un seguimiento clínico y radiológico precisó finalmente corrección quirúrgica de la deformidad (AU)

Blount disease is a developmental disorder that affects the proximal growth cartilage of the tibia. It is a rare entity of probable multifactorial origin whose etiology is not clear. It causes a progressive deformity with a bowing of the lower limbs in the form of a genu varum. In the early variant, bilateral involvement is more frequent, so in mild cases it may be difficult to differentiate between the physiological variant. We present the case of a 15-month-old girl of African origin, who has a progressive bilateral genu varum. After a clinical and radiological follow-up, he finally needed surgical correction of the deformity (AU)

Gestión de segundas víctimas en Galicia / Second victim management in Galicia

No disponible

Human and ecotoxicological impacts assessment from the Mexican oil industry in the Coatzacoalcos region, as revealed by the USEtox model.

Human and ecotoxicological impacts were analyzed in the lower basin of the Coatzacoalcos River (Veracruz, State in Mexico). High pollution levels of contaminants from the oil industry have been reported in natural streams and the Coatzacoalcos River and in their sediments. USEtox model was employed to evaluate environmental fate, exposure, and effect of nine organic compounds (polycyclic aromatic hydrocarbons and one of which was in the group of polychlorinated biphenyls), a heavy metal (lead), and the effect of the industrial wastewater emitted into the river, on the Coatzacoalcos region. Most of these compounds are highly toxic; they bioaccumulate in human and animal tissue, mainly in the fatty tissues and can damage different organs and systemic targets such as the liver, kidney, hormonal system, nervous system, etc., of both humans and wildlife. The model estimates that 96% (3,247 kg/day) of organic compounds is transferred from the water into air, whereas only 4% (151 kg/day) remains in the water. In addition, it predicts that humans are mainly exposed to polychlorinated biphenyls (PCBs) congeners (28 and 153) by eating contaminated fish, due to PCBs accumulating in the fish fat tissue. The number of cases of cancer and noncancer (1 in 862 habitants per additional kilogram) is expected to have an increment due to the higher PCBs exposure of human population. Genetic damages in fishes, earthworms, and toads have been observed and related to higher exposure to organic compounds. The relationship between the field reported data and those one predicted by the USEtox model have been confirmed empirically by using the nonparametric correlation analysis (Spearman's rho). Based on the USEtox model, the environmental stress in the Coatzacoalcos industrial zone is between 2 and 6 orders of magnitude over geometric mean of acute aquatic EC50s. We think that USEtox model can be used to expand the number of substances that have the current water quality guidelines to improve the water management in Mexico.

Síndrome suprarrenogenital congénito virilizante con mutación de novo I172N: estudio de un nuevo caso / Virilizing congenital adrenogenital syndrome with a de novo I172N mutation: study of a new case

La forma clásica de hiperplasia suprarrenal congénita por déficit de 21-hidroxilasa (21-OHD) se debe a mutaciones del gen CYP21A2. La gran mayoría de los alelos deficientes muestran mutaciones que preexisten en un seudogen homólogo y localizado en tandem: CYP21A1. Los alelos se heredan de los padres portadores, y las mutaciones de novo en el transcurso de la gametogénesis o en el desarrollo fetal son excepcionales. Este artículo describe a una paciente afectada de 21-OHD clásico que presentó en su alelo materno la mutación de novo I172N en heterocigosis compuesta con la mutación grave R356W heredada del padre. La madre de la paciente resultó negativa en el estudio de mutaciones del gen CYP21A2. El estudio complementario de marcadores indirectos tipo microsatélite confirmó una segregación correcta de los alelos parentales. La mutación I172N (en heterocigosis compuesta con mutación nula) da lugar a un fenotipo muy característico neonatal virilizante que no asocia crisis de pérdida salina (AU)

The classical form of congenital adrenal hyperplasia is the result of mutations in the 21-hydroxylase gene (CYP21A2). Most deficient alleles carry pre-existing mutations in the CYP21PA homologue pseudogene, located in tandem. Mutant alleles are inherited from carrier parents, and de novo mutations during gametogenesis or foetal development are exceptional. The present paper describes a de novo mutation occurring at the maternal allele (I172N) of a patient with a classical form of 21-hydroxylase deficiency, whose father was heterozygous for R356W. The mother did not carry the mutation. Microsatellite analyses confirmed a correct allelic segregation. The I172N mutation (in compound heterozygosity with a null mutation) gives rise to a virilizing phenotype not associated with salt-wasting (AU)

[Virilizing congenital adrenogenital syndrome with a de novo I172N mutation: study of a new case]. / Síndrome suprarrenogenital congénito virilizante con mutación de novo I172N: estudio de un nuevo caso.

The classical form of congenital adrenal hyperplasia is the result of mutations in the 21-hydroxylase gene (CYP21A2). Most deficient alleles carry pre-existing mutations in the CYP21PA homologue pseudogene, located in tandem. Mutant alleles are inherited from carrier parents, and de novo mutations during gametogenesis or foetal development are exceptional. The present paper describes a de novo mutation occurring at the maternal allele (I172N) of a patient with a classical form of 21-hydroxylase deficiency, whose father was heterozygous for R356W. The mother did not carry the mutation. Microsatellite analyses confirmed a correct allelic segregation. The I172N mutation (in compound heterozygosity with a null mutation) gives rise to a virilizing phenotype not associated with salt-wasting.

La salud de los niños adoptados en el extranjero por familias del País Vasco y Navarra (1997-2004) / No disponible

Objetivo: estudiar el estado físico, el desarrollo psicomotor y la adaptación de niñosadoptados internacionalmente entre 1997 y 2004 en el País Vasco y Navarra al llegar y un añodespués.Material y métodos: doble encuesta médica y psicológica bilingüe anónima a todas las familiasadoptantes.Resultados: se enviaron 1.647 encuestas y se recibieron 420 (25,5%). Los niños proveníande China, Latinoamérica y Europa del Este. Media y mediana de edad: 2 años.Malnutrición: 9% índice de masa corporal (IMC) < 2 DE (desviaciones estándar); los valoresdel Z score para el peso, la talla y el IMC evolucionaron de –1 DE al llegar a casi 0 DE un añodespués.Parasitosis intestinal: 18,5%; infección tuberculosa latente: 5,5%; serología de hepatitis Balterada: 4%; una lúes tratada; anemia: 12,2%; alteraciones visuales: 11,4%; y déficit auditivo:1%.Trastorno psicomotor global: 2,5%, retraso área motora: 8%, comportamiento retraído18,2%, conducta hiperactiva 18,6%. Un año después 1,6%, 5%, 7,1% y 13,2% respectivamente.Ninguna alteración espectro autista. Control esfínteres, sueño y alimentación similares anuestra población.Conclusiones: en general, alteraciones físicas poco graves con satisfactoria evolución. Desarrollopsicomotor adecuado para la mayoría. Al año buena evolución excepto los 7 casos graves (4 con información preadoptiva al respecto). Se debe investigar sobre el excesivo númerode niños con comportamiento hiperactivo y sobre el posible retraso del lenguaje.Con respecto a otras publicaciones, encontramos iguales patologías pero con incidenciamenor tanto en datos objetivos (auxología, vacunaciones y estudios complementarios) comoen el lenguaje, la adaptación social o el desarrollo psicomotor. El grado de satisfacción de lospadres es altísimo.Los gobiernos deberían exigir informes preadoptivos fidedignos y completos ya que la patologíaes, sin duda, mayor en estos niños.Los pediatras de Atención Primaria son los indicados para el diagnóstico y el seguimientocoordinado siempre que se mejore la difusión de los protocolos de adopción internacional

Objective: to study physical status, psychomotor development, and social adaptation atarrival and a year after of 420 children (25.5%) adopted internationally in the Basque Countryand Navarra. Most children come from China, Latin America and East Europe. Median and mode:2 years of age.Method: medical and psychological survey administered to each of the adopting familiesto complete with their pediatrician.Results: 9% malnourished (BMI< 2 SD). Z score for weight, height and BMI increased from–1SD to almost 0 SD after one year.Psychomotor retardation from mild to serious 8%. Introspective behaviour 18.6%. Hyperactivebehaviour 18.2. After one year, 7% and 13% respectively.No autistic spectrum disorders. Sphincter control, sleep quality and nutrition behaviour similarto that of the local population.Conclusions: mild physical diseases, the majority of which disappeared or were improvedafter one year. Psychomotor development is good in general, especially after one year, exceptfor the seven severe cases, four of which had bad preadopting reports. There is a substantialpercentage of hyperactive behaviour and also a possible language delay.In respect to other publications, vaccinations, nutrition, height, weight, examinations, socialadaptation and psychomotor development showed better results.Preadopting reports present serious deficits but are not always false. Our governmentsshould struggle to obtain good preadopting reports.First line pediatricians are the appropriate ones to coordinate monitoring as long as the diffusionof the adoption protocols improves