Procedure for the systematic orientation of digitised cranial models. Design and validation.

Comparison of bony pieces requires that they are oriented systematically to ensure that homologous regions are compared. Few orientation methods are highly accurate; this is particularly true for methods applied to three-dimensional models obtained by surface scanning, a technique whose special features make it a powerful tool in forensic contexts. The aim of this study was to develop and evaluate a systematic, assisted orientation method for aligning three-dimensional cranial models relative to the Frankfurt Plane, which would be produce accurate orientations independent of operator and anthropological expertise. The study sample comprised four crania of known age and sex. All the crania were scanned and reconstructed using an Eva Artec™ portable 3D surface scanner and subsequently, the position of certain characteristic landmarks were determined by three different operators using the Rhinoceros 3D surface modelling software. Intra-observer analysis showed a tendency for orientation to be more accurate when using the assisted method than when using conventional manual orientation. Inter-observer analysis showed that experienced evaluators achieve results at least as accurate if not more accurate using the assisted method than those obtained using manual orientation; while inexperienced evaluators achieved more accurate orientation using the assisted method. The method tested is a an innovative system capable of providing very precise, systematic and automatised spatial orientations of virtual cranial models relative to standardised anatomical planes independent of the operator and operator experience.

Cystic fibrosis patients with mutation 1949del84 in exon 13 of the CFTR gene have a similar clinical severity as delta F508 homozygotes.

The majority of the identified cystic fibrosis (CF) mutations are very uncommon in the total patient population, making the correlation between the clinical presentation and the molecular alterations difficult. The largest deletion that has been described so far in CF is of 84 bp in exon 13, which corresponds to the regulatory (R) domain of the CF transmembrane conductance regulator (CFTR) protein. We have analysed 340 Spanish CF patients for this deletion, named 1949del84, and found three further compound heterozygous patients for mutations 1949del84 and delta F508, and one for 1949del84 and an unknown mutation. Evaluation of the clinical data in these patients suggests that this in-frame deletion, when associated with delta F508, has a similar disease severity to that of delta F508 homozygous patients.

[Pulmonary blastoma at the site of a congenital pulmonary cyst]. / Blastome pulmonaire sur kyste pulmonaire congénital.

Lung blastoma is a rare primary tumor of the lung. There are only 18 cases reported in medical bibliography under 15 years old. A girl 4 years old is reported. A pulmonary congenital cyst in right middle lobe was excised in other hospital at 15 months old. A pneumoblastoma developed at 4 years old in the same location. It was excised by bilobectomy and treated after words with radium and polychemotherapy. Evolution after 29 months of intervention is quite good. She is in good health without recidives or metastases. Lung blastoma is a mixed tumor composed by embryonic mesenchyma and endothelial cores of embryology origin. A review has been done about published cases and it's commented the relation between blastoma and peripheral pulmonary cysts. Three of the 4 cases in pediatric bibliography presented that association and in another the disorders merge with 3 years of influence. In our case the lapse was 31 months after cyst exeresis.

[Fahr disease and idiopathic pulmonary hemosiderosis in a 10 year old patient (author's transl)]. / Enfermedad de Fahr y hemosiderosis pulmonar idiopática en un paciente de diez años.

A 10 year old patient with acute respiratory insufficiency, dispnea, cough, temperature, cyanosis and hemoptisis is presented. Cranial X-rays and scanning revealed basal ganglia calcifications. Intense hypocalcemia and hyperphosphoremia were found as well as response to parathyroid hormone administration. A diagnosis of primary hypoparathyroidism and idiopathic pulmonary hemosiderosis was made. These two diseases are associated and related because of the autoimmune nature of both of them.

Mycoplasma pneumoniae infections.

A review of infections with Mycoplasma pneumoniae in children, emphasizing their frequency, association with viral infections, nonspecific clinical aspects, diagnostic data, and extrapulmonary possible manifestations is presented. This work was based on 320 analyses made in a period of 3 years. 15 of those analyses were serologically positive for M. pneumoniae, and 10 of them were also serologically positive for virus.