Indicadores de salud perinatal. Diferencias de la información registrada por el INE y la de los hospitales que atienden los nacimientos

La búsqueda de medidas objetivas del estado de salud de la población es una tradición en salud pública que se realiza desde hace dos siglos. Inicialmente, la descripción y análisis del estado de salud se basaba en medidas de mortalidad y supervivencia. Con el paso del tiempo se reconoció la necesidad de considerar también otras dimensiones del estado de salud, en parte para el control de enfermedades y en parte por tener una visión más amplia del concepto de salud y de sus determinantes poblacionales..

Early assessment of cardiomyopathy in Duchenne patients by means of longitudinal strain echocardiography

Introduction: The diagnosis of Duchenne-linked cardiomyopathy may be challenging. Conventional echocardiographic measurements typically show deterioration beyond the second decade. Global longitudinal strain has been proposed as an earlier marker than left ventricular ejection fraction. Material and methods: A prospective, observational, cross-sectional, case-control study was carried out. Both Duchenne patients and control subjects underwent transthoracic echocardiogram in order to assess left ventricle function. Bayesian linear regression was the main tool for inference. Age effects were parameterised by means of a spline function because of its simplicity to characterise continuous variables and smooth contributions. The posterior distribution of the marginal age effects was used to assess the earliest age of deterioration of each marker. Results: Sixteen Duchenne patients and twenty-two healthy male subjects were enrolled. On overage, cardiac function measures were found for ejection fraction and longitudinal strain among different groups. Age effects on global longitudinal strain are more reliably found at ages of 6 and above, while ejection fraction starts to deteriorate at an older age. Progressive left ventricular dysfunction in Duchenne patients is one of the key issues and starts at an early age with subtle symptoms. Conclusion: This cross-sectional study provides supporting evidence that global longitudinal strain is an earlier marker of disease progression than ejection fraction in Duchenne patients

Targeted gene sequencing, bone health, and body composition in Cornelia de Lange Syndrome

The aim of this study was to evaluate bone health and body composition by dual-energy X-ray absorptiometry (DXA) in individuals with Cornelia de Lange Syndrome (CdLS). Overall, nine individuals with CdLS (five females, all Caucasian, aged 5-38 years) were assessed. Total body less head (TBLH) and lumbar spine (LS) scans were performed, and bone serum biomarkers were determined. Molecular analyses were carried out and clinical scores and skeletal features were assessed. Based on deep sequencing of a custom target gene panel, it was discovered that eight of the nine CdLS patients had potentially causative genetic variants in NIPBL. Fat and lean mass indices (FMI and LMI) were 3.4-11.1 and 8.4-17.0 kgm2, respectively. For TBLH areal bone mineral density (aBMD), after adjusting for height for age Z-score of children and adolescents, two individuals (an adolescent and an adult) had low BMD (aBMD Z-scores less than -2.0 SD). Calcium, phosphorus, 25-OH-vitamin D, parathyroid hormone, and alkaline phosphatase levels were 2.08-2.49 nmolL, 2.10-3.75 nmolL, 39.94-78.37 nmolL, 23.4-80.3 pgmL, and 43-203 IUL, respectively. Individuals with CdLS might have normal adiposity and low levels of lean mass measured with DXA. Bone health in this population seems to be less of a concern during childhood and adolescence. However, they might be at risk for impaired bone health due to low aBMD in adulthood

Modificaciones en variables antropométricas, analíticas de riesgo metabólico y composición corporal en pequeños para la edad gestacional en tratamiento con hormona de crecimiento

Introducción Los niños pequeños para la edad gestacional (PEG) sin crecimiento recuperador pueden beneficiarse del tratamiento con hormona de crecimiento (rhGH). Sin embargo, deben ser monitorizados de forma muy estrecha ya que son población de riesgo metabólico. Material y métodos Se han incluido 28 niños PEG, con una media de edad de 8, 79 años, sin crecimiento recuperador, tratados con rhGH. Hemos evaluado las modificaciones producidas en la antropometría, variables de riesgo metabólico y composición corporal durante 4 años de tratamiento. Resultados El tratamiento con rhGH se acompañó de un aumento de talla (–2, 76 ± 0, 11 DE hasta –1, 53 ± 0, 17 DE; p = 0, 000), peso (–1, 50 ± 0, 09 DE hasta –1, 21 ± 0, 13 DE; p = 0, 016) y velocidad de crecimiento (–1, 43 ± 0, 35 DE hasta 0, 41 ± 0, 41 DE; p = 0, 009), sin producir modificaciones en el índice de masa corporal (IMC). Se han visto aumentos significativos de la insulinemia (9, 33 ± 1, 93 mU/ml hasta 16, 55 ± 1, 72 mU/ml; p = 0, 044) y del índice HOMA (3, 63 ± 0, 76 hasta 6, 43 ± 0, 67; p = 0, 042), sin producirse modificaciones en el perfil lipídico. En el estudio de composición corporal se ha comprobado un aumento significativo de la masa magra (73, 19 ± 1, 26 hasta 78, 74 ± 1, 31; p = 0, 037) con una disminución de la masa grasa (26, 81 ± 1, 26 hasta 21, 26 ± 1, 31; p = 0, 021). Conclusión El tratamiento con rhGH se ha acompañado de una ganancia en la talla sin producir alteraciones en el IMC. Asimismo, se han observado cambios en la composición corporal, con un aumento de la proporción de masa magra a expensas de una disminución de la de masa grasa, que podrían conducir a un descenso del riesgo metabólico de estos pacientes. Sin embargo, se ha detectado cierta resistencia insulínica. Es importante continuar el seguimiento de estos niños para determinar las posibles repercusiones en la edad adulta. Introduction and objectives Small for gestational age (SGA) children without catch-up growth can benefit from treatment with growth hormone (rhGH). However, they should be monitored very closely because they are at increased risk of metabolic syndrome. Material and method A group of 28 SGA children with a mean age of 8.79 years and undergoing treatment with rhGH were selected for evaluation. Over the course of 4 years, an annual evaluation was performed on the anthropometric variables (weight, height, body mass index [BMI], growth rate, blood pressure and waist perimeter), metabolic risk variables (glycaemia, glycosylated haemoglobin, cholesterol ratio, insulinaemia, insulin-like growth factor 1[IGF1], IGF binding protein-3 [IGFBP-3], IGF1/IGFBP3 ratio, and HOMA index), and body composition variables. Results Treatment with rhGH was associated with a significant increase in height (–2.76 ± .11 SD to –1.53 ± .17 SD, P = .000), weight (–1.50 ± .09 SD to –1.21 ± .13 SD; P = .016), and growth rate (–1.43 ± .35 SD to .41 ± .41 SD; P = .009), without a corresponding change in the BMI. Insulinaemia (9.33 ± 1.93 mU/ml to 16.55 ± 1.72 mU/ml; P = .044) and the HOMA index (3.63 ± .76 to 6.43 ± .67; P = .042) increased, approaching insulin resistance levels. No changes were observed in the lipid profile. Body composition changes were observed, with a significant increase in lean mass (73.19 ± 1.26 to 78.74 ± 1.31; P = .037), and a reduction of fat mass (26.81 ± 1.26 to 21.26 ± 1.31; P = .021). Conclusion Treatment with rhGH is effective for improving anthropometric variables in SGA patients who have not experienced a catch-up growth. It also produces changes in body composition, which may lead to a reduction in risk of metabolic syndrome. However, some insulin resistance was observed. It is important to follow up this patient group in order to find out whether these changes persist into adulthood

Clinical relevance of postzygotic mosaicism in Cornelia de Lange syndrome and purifying selection of NIPBL variants in blood

Postzygotic mosaicism (PZM) in NIPBL is a strong source of causality for Cornelia de Lange syndrome (CdLS) that can have major clinical implications. Here, we further delineate the role of somatic mosaicism in CdLS by describing a series of 11 unreported patients with mosaic disease-causing variants in NIPBL and performing a retrospective cohort study from a Spanish CdLS diagnostic center. By reviewing the literature and combining our findings with previously published data, we demonstrate a negative selection against somatic deleterious NIPBL variants in blood. Furthermore, the analysis of all reported cases indicates an unusual high prevalence of mosaicism in CdLS, occurring in 13.1% of patients with a positive molecular diagnosis. It is worth noting that most of the affected individuals with mosaicism have a clinical phenotype at least as severe as those with constitutive pathogenic variants. However, the type of genetic change does not vary between germline and somatic events and, even in the presence of mosaicism, missense substitutions are located preferentially within the HEAT repeat domain of NIPBL. In conclusion, the high prevalence of mosaicism in CdLS as well as the disparity in tissue distribution provide a novel orientation for the clinical management and genetic counselling of families

Picadura por escolopendra

A centipede bite is very painful and can be accompanied by generalized symptoms.A case of a scolopendra sting,with typical signs and an uncomplicated course,is presented.La picadura de ciempiés es muy dolorosa y puede acompañarse de síntomas generales. Presentamos un caso de picadurapor escolopendra, con signos típicos y evolución favorable