Discussing options between patients and health care professionals in genetic diagnosis: ethical and legal criteria

The specific characteristics of genetic data lead to ethical-legal conflicts in the framework of genetic diagnosis. Several international organisations, including UNESCO and the Council of Europe, have enacted rules referring to the use of genetic information. This paper discusses possible legal and ethical criteria that could be used in genetic testing.     

Augmentation technique with semitendinosus and gracilis tendons in chronic partial lesions of the ACL: clinical and arthrometric analysis

Most of the techniques described in the literature for the repair of chronic partial ACL tears, don’t spare the intact portion of the ligament. The aim of this study was to perform a prospective analysis of the results of augmentation surgery using gracilis and semitendinosus tendons to treat partial sub-acute lesions of the ACL. This technique involves an “over the top” femoral passage, which enables salvage and strengthening of the intact portion of the ACL. The study included 47 patients treated consecutively at our institute from 1993 to 1998, with a mean injury-surgery interval of 18 weeks (range 12–36). The patients were followed up by clinical and instrumental assessment criteria at 3 months, 1 and 5 years after surgery. Clinical assessment was performed using the IKDC form. Subjective and functional parameters were assessed by the Tegner activity scale. Instrumental evaluation was done using the KT-2000 instrument: the 30-pound passive test and the manual maximum displacement test were performed. We obtained good or excellent results in 95.7% of cases. No recurrences in ligamentous laxity were observed. We believe that the described technique has the advantage of being compatible with ACL anatomy, and enables very rapid functional recovery.     

A Spanish version of the Family Assessment Device

Introduction  

This paper presents the results of a study on the psychometric properties of an authorized Spanish version of the McMaster Family Assessment Device, a self-report measure of family functioning.     

Benign infantile seizures with mild gastroenteritis: Study of 22 patients

PurposeTo analyze the electroclinical features, aetiology and outcome in patients with normal neurological examination and psychomotor development who presented seizures during a mild gastroenteritis (MG).Patients and methodsEvaluation of the clinical charts of 22 patients who were assessed in the Neurology Department, Hospital Nacional de Pediatría Prof. Dr. JP Garrahan between 1999 and 2007.ResultsTwelve patients were boys and 10 were girls, the age of onset ranged from 5 to 26 months, and the median age was 10 months. Rotavirus antigen test in stool was positive in 9 of 18 studied patients. The seizures were brief, focal with secondary generalization in 15 patients (68.5%), apparently generalized in 5 (22.5%) and focal in two (9%). Seven of the patients (35%) had more than one seizure in 24 h. The interictal EEG was normal in all patients. Neuroradiological studies were performed in 19 patients with a normal result. No patient was put on long-term treatment with antiepileptic drugs. Four patients had subsequent mild gastroenteritis and two of them presented convulsions during the disease. After between 12 and 67 months of follow-up, all patients had normal psychomotor development and neurological examination.ConclusionsIn this study we confirmed the association of benign infantile seizures (BIS) and MG with or without rotavirus. The identification of this entity allows avoiding unnecessary complementary studies and treatment with antiepileptic drugs.     

The genetic and epigenetic basis of ependymoma

Introduction  

Although ependymoma is the third most common pediatric brain tumor, we know little about the genetic/epigenetic basis of its initiation, maintenance, or progression. This is due in part to the heterogeneity of the disease, as well as the small sample size of the cohorts analyzed in most studies.