[Pentasomy X: a clinical case report]. / Pentasomia X: descrizione di un caso clinico.

Cytogenetic investigations gave evidence of pentasomy X in a 3-year-old female with typical facies and psychomotor retardation. The parents and the grandparents showed a normal karyotype. The clinical symptoms of our case were compared with the other authors, we found a low birth weight, short stature, delayed expressive language, multiple abnormalities of craniofacial skeleton and some minor deformities of the arts. The parental origin of the extra set of X chromosome were determined by the restriction fragment length analysis (RFLPs) using the very polymorphic probes M27beta, L1.28 and St14. These data support the hypothesis of a maternal meiotic double non-disjunction.

[Ultrasonic neonatal screening of congenital hip dislocation]. / Lo screening ecografico neonatale della displasia congenita dell'anca.

Routine echographical neonatal diagnosis of congenital dislocation of the hip is today a good method of treatment of this pathology: early diagnosis, infarct, allows treatment in early years with complete healing as shown by long term follow-up. 596 newborns have met with echographic hip screening: the method has shown good result and the study has led us to realize an anamnestical schema pointed on the familiarity which is one of the pathognomic matters of this pathology.

[Arterial pressure in childhood. I: Relation to age. (collection of data relative to 3,737 pupils of elementary and high school between the ages of 6 to 14 years)]. / La pressione arteriosa in età pediatrica. Parte I: Rapporto con l'età. (elaborazione di dati relativi a 3.737 alunni della Scuola elementare e media in età da 6 a 14 anni).

Research relating blood pressure levels of 6-14 years-old age schoolchildren has been carried into the whele school-population of Chivasso (Turin) town. Three kinds of armbands of different widths and lengths were used according to age. In conformity with Long's suggestions, the correction factors were used for the age-groups from 6 to 7 years and 8 to 11. On the grounds of the levels taken the quantiles were calculated. The graphs show the shape of the 5th, 25th, 50th, 75th, and 95th percentiles, related to the systolis and diastolic pressures and to the age of the child. The results showed a continous increase in the shape of the levels, which did not depend on the sex variant. A spike in the 9th year can be related to the fact that the correction factor can be less than it should be. The decrease in the 11th year can be put down to the fact that the correction for the armband has not been carried out from the 12th year onwards. 6.52% of schoolchildren have systolic and/or diastolic blood pressure greater than 95 degrees C.

[Endoscopic examinations in the primary tuberculosis complex in childhood]. / L'indagine endoscopica nel complesso primario dell'infanzia.

The authors draw attention here to a series of cases of primary tuberculosis in early infancy (in children aged between 4 months and 4 years), and they stress that it is indispensable to perform endoscopy in those forms where the lymphoglandular element constitutes the starting point of symptoms of local complications. The authors point to the high incidence of bronchoglandular fistulae mentioned in publications, which can be discovered exclusively by endoscopy and which can also be made easy by cortisone therapy. This therapy moreover remains a fundamental weapon against respiratory defect which follow when the lymphoglandular element of the primary tuberculous infection affects the bronchi. The authors also wish to stress that the cortisone therapy can also avoid serious loss of of pulmonary function as demonstrated in a patient whom the authors were only able to observe at a late stage.

[Obstructive cardiomyopathy with idiopathic hypertrophic subaortic stenosis in the pediatric age]. / La cardiomiopatia ostruttiva con stenosi subaortica ipertrofica idiopatica in età pediatrica.

The clinical and haemodynamic features of obstructive cardiomyopathy with hypertrophic subaortic stenosis in a 12-yr-old boy are examined. A cardiac souffle had been present for 10 yr and precordial pain, cardiopalmus and effort dyspnoea for 5-6 yr. Familial association, ischaemic and pseudonecrotic ECG changes, and signs of left ventricle hypertrophy were noted. Left catheterisation and ventriculography showed obstructive hypertrophy of the muscle, two chambers with filling at 160/10 and ejection at 120/10, and slight regurgitation into the left trium. Treatment with 0.2-0.5 mg/kg/day propranolol.