Reference charts for the six-minute walk test in healthy school-aged children from the city of Zaragoza, Spain.

INTRODUCTION: The six-minute walk test is a stress test that provides information about exercise tolerance in chronic diseases. The aim of the study was to develop reference equations with normal values for the test in healthy children aged 6-12 years in our paediatric reference population. PATIENTS AND METHODS: The six-minute walk test was carried out in a sample of 236 healthy children, analyzing pre- and post-test variables, and we developed reference equations selecting variables that turned out to be significant (P < .05). RESULTS: The pre- and post-test values, respectively, were 97.82% (SD, 0.64) vs 97.82% (SD, 0.59) for oxygen saturation; 96.59 bpm (SD, 16.11) vs 131.89 bmp (SD, 22.64) for the heart rate; 0.52 (SD, 0.83) vs 3.01 (SD, 2.42) for the degree of dyspnea (Borg scale) and 0.68 (SD, 0.98) vs 2.95 (SD, 2.26) for the degree of lower extremities fatigue (Borg scale). The average distance walked was 668.03 m (SD, 87.36) (671.42 m in boys [SD, 92.2] vs 664.22 m in girls [SD, 81.81]). We fitted predictive equations that included the variables age, height and difference between baseline and final heart rate. We also generated percentile charts of the distance walked for height. CONCLUSIONS: Age, height, regular physical activity and obesity had an impact on test results. Obtaining reference values for the 6-min walk test in healthy children is necessary for its application in clinical practice.

Genetic Diagnosis of Rare Diseases: Past and Present.

Rare diseases are heterogeneous life-threatening or seriously debilitating conditions that affect < 1 in 2000 individuals, and most have a genetic component. The diagnostic process is usually based on classic clinical practices, such as physical examination, personal and family history (inheritance pattern), laboratory tests and image studies, but diagnosis can be delayed several years after the initiation of symptoms. The advances in molecular genetics that have taken place in recent years have led to an important shift in medical practice and in its approach to the diagnosis and treatment of many rare diseases. The objective of this review is to promote a better understanding of the mechanisms underlying genetic diseases in humans and the tools available for their diagnosis. A practical example of X-linked hypophosphataemic rickets is described.

Cornelia de Lange syndrome: Congenital heart disease in 149 patients. / Síndrome de Cornelia de Lange: incidencia de cardiopatía congénita en 149 pacientes.

INTRODUCTION: Cornelia de Lange syndrome (CdLS) is produced by mutations in genes that encode regulatory or structural proteins of the cohesin complex. Congenital heart disease (CHD) is not a major criterion of the disease, but it affects many individuals. The objective of this study was to study the incidence and type of CHD in patients with CdLS. MATERIAL AND METHOD: Cardiological findings were evaluated in 149 patients with CdLS and their possible relationship with clinical and genetic variables. RESULTS: A percentage of 34.9 had CHD (septal defects 50%, pulmonary stenosis 27%, aortic coarctation 9.6%). The presence of CHD was related with neonatal hospitalisation (P=.04), hearing loss (P=.002), mortality (P=.09) and lower hyperactivity (P=.02), it being more frequent in HDAC8+ patients (60%), followed by NIPBL+ (33%) and SMC1A+ (28.5%). While septal defects predominate in NIPBL+, pulmonary stenosis is more common in HDAC8+. CONCLUSIONS: Patients with CdLS have a high incidence of CHD, which varies according to the affected gene, the most frequent findings being septal defects and pulmonary stenosis. Perform a cardiologic study in all these patients is suggested.

Familial hypertrophic cardiomyopathy associated with a new mutation in gene MYBPC3.

We think that the main interests of this study are the report of a new mutation in gene MYBPC3 as a cause of Hypertrophic cardiomyopathy (HMC), and the verification of the fact that not always is the number of mutations related to the severity of the disease.