Combined imaging approach to diagnose a meningioma in a patient with prostate and lung cancers / Uso combinado de técnicas de imagen para el diagnóstico de meningioma en un paciente con cáncer de próstata y de pulmón

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A two-locus model for non-syndromic congenital dysplasia of the hip (CDH).

Complex segregation analysis was conducted in a sample of 171 pedigrees collected through probands affected by non-syndromic dysplasia of the hip (CDH) treated in Ferrara's CDH Centre in the period 1991-6. The analysis favoured a two-locus model, in which the accepted segregation model at the major locus was compatible with recessive transmission, with a gene frequency of the deleterious allele of around 0.20. For the other locus, among the Mendelian hypotheses tested, the recessive model turned out to be the most parsimonious. When ultrasonographic level was examined as an indication of severity, a significant improvement in the fit of the model was observed, giving clear evidence that information on the severity of CDH is important for a better definition of the hereditary transmission model.

Screening for developmental dysplasia of the hip: from theory to practice. Collaborative Group DDH Project.

OBJECTIVE: To evaluate an organizational model for neonatal population screening for developmental dysplasia of the hip. METHODS: In 4648 neonates born in six hospitals of the Lombardy region, screening for developmental dysplasia of the hip was done using the Ortolani-Barlow maneuver and ultrasonography. RESULTS: The frequency of positive results of clinical and ultrasound examinations carried out in the hospitals varied considerably as a result of difficulties in the Ortolani-Barlow test reproducibility and in the low sensitivity of the clinical examination when compared to ultrasonography. Neonatal screening results implied a large number of subjects with a IIa hip, according to Graf's system; as these subjects require follow-up, the cost of this type of screening is high. Ultrasound findings were normal at 69 days of life in 88% and 75% of subjects, respectively, with unilateral and bilateral type IIa hip. CONCLUSION: This study evaluated various organizational models for screening (for different time periods and for selected populations) in relation to the cost-benefit ratio and demonstrated the different problems that still impede identification of a correct screening model.

Growth and development in thalassaemia major patients with severe bone lesions due to desferrioxamine.

UNLABELLED: Nine transfusion-dependent beta-thalassaemia major patients (seven males and two females), aged 4-15 years, with growth retardation and severe rickets-like radiological lesions due to continuous subcutaneous chelation therapy with desferrioxamine (45-75 mg/kg body weight, 6-7 time/week), were seen in our centre during the last 8 years. Serum ferritin levels ranged from 976 to 4115 micrograms/l. There was a progressive decline in growth velocity in these patients 2-3 years before the appearance of rickets-like radiological lesions. All patients underwent surgery to correct genu valgum and/or slipped capital epiphyses. The final height was below the 3rd percentile in six patients (SDS: from -2.9 to -5.2). The short stature was mainly due to a disproportion between upper and lower segments. Six of the patients had an associated sensorineural hearing loss. CONCLUSION: Our data emphasize the importance of an accurate surveillance of the toxic effects of desferrioxamine treatment and warn of the risk of overtreating patients with low iron overload and also suggest a possible individual idiosyncrasy to the adverse effects of chelation therapy.

Pattern of iron excretion in relation to haemoglobin level and iron load in 8 haematological patients following the administration of subcutaneous deferrioxamine.

Iron excretion following subcutaneous administration of deferrioxamine (DFO) was measured between two transfusions of packed red cells in 6 patients with beta-thalassaemia major on the high level Hb transfusion regime; and in a single 3-day period in 2 other patients, 1 with transfused beta-thalassaemia major and the other with haemolytic anaemia due to PK deficiency. The pattern of iron excretion did not change significantly during the period between the two transfusions and was found to be related to serum ferritin levels. The proportion of iron excreted in the stools was inversely related to the serum ferritin level. These observations on iron excretion are of practical importance in relation to DFO administration, especially when evaluated in thalassaemics with normal haemoglobin levels and low iron stores.

[The "lamellar cranium": a particular radiologic feature of Cooley's disease]. / Il "cranio lamellare": un particolare aspetto radiologico del morbo di Cooley.

The skull in homozygous beta-thalassemia (Cooley's anemia) may present with several abnormalities, such as osteopenia, widening of the diploic space, and a "hair on end" appearance. In some cases it presents also a particular stratified aspect owing to a variable number of osseous lamellae, arranged so as to be parallel to the inner table. This "lamellated skull" was observed in 16 patients, selected from 150 patients with Cooley's anemia (10.6%). The possible mechanisms are discussed. The pluristratified lamellar osseous production could be brought about by repeated periosteal osteoblastic reaction to the sinusoidal neovascularization associated with marrow hyperplasia in poorly or not at all transfused patients.

[Thalassemia today. The radiologic evolution of lesions of the skull and hand with reference to transfusion therapy]. / Talassemia oggi. Evoluzione radiologica delle lesioni al cranio ed alla mano, in rapporto alla terapia trasfusionale.

The main abnormalities of the hand and skull in a group of patients who underwent hypertransfusion regimen were reviewed and compared to the lesions observed in a control group of low-transfused patients. The results are reported, and a possible correlation with transfusion regimen is discussed: since bone lesions are explained on the basis of relationship between proliferating bone marrow and bone cortex, hypertransfusion regimen will prevent the development of abnormalities, only if established early in life. For this reason, skeletal lesions in Cooley's anaemia have changed their "classical" radiographic patterns. In the skull, the diploic space may become normal, and the overgrowth of facial bones moderate; the pneumatization of paranasal sinuses may not be completely impeded by the swelling of the jaws, the "hair-brush" pattern may disappear completely. The normalized picture of the hand is and remains a typical differential sign of prepuberal and adult patients.

Alpha and beta cell evaluation in patients with thalassaemia intermedia and iron overload.

Insulin and glucagon secretion were studied during an oral glucose tolerance test and arginine infusion in 11 patients with thalassaemia intermedia, who showed laboratory evidence of iron overload. Mean blood glucose concentrations in patients with thalassaemia intermedia were significantly higher than normal and 3 of 11 patients had impaired glucose tolerance. The principal abnormality appears to be a deficiency in insulin and glucagon from the pancreas in response to oral glucose tolerance and arginine stimulation tests. Several factors, such as iron overload, chronic hypoxia, zinc deficiency and increased catecholamine production secondary to anaemia, might play a part in the pathogenesis of these abnormalities. Each of these factors affect individual cases to a varied degree. Our data emphasize the mildness of carbohydrate defect as compared to the degree of insulinopenia and indicate the necessity for prescribing measures which prevent excessive iron deposition and improve iron excretion in thalassaemic patients with iron overload.

Beta-cell function assessed by plasma C-peptide evaluation in diabetic thalassaemic patients.

In order to investigate the pancreatic function in patients with thalassaemia major, plasma glucose and immunoreactive C-peptide levels were determined in 9 diabetic thalassaemic patients and in 7 controls after arginine infusion. Mean basal and peak values and C-peptide areas in thalassaemic patients did not differ significantly from those of the controls. However, in the thalassaemic group there was a greater variation in values, since pancreatic beta-cell function was found either normal, reduced or increased. These findings could suggest that different factors may lead to diabetes which complicates thalassaemia, i.e. insulin-resistance, probably due to liver damage subsequent to iron deposition and infectious hepatitis, and insulinopenia, probably due to beta-cell lesion following iron storage in the pancreas.

Comparison of prolactin response to suckling and breast pump aspiration in lactating mothers.

Prolactin release following breast pump aspiration is less than that following suckling. The long-term effects of this decreased prolactin response are not yet known and therefore the use of the breast pump should be limited to selected cases and for the shortest possible time.

[Tuberculin survey and its meaning for a correct prevention in a high risk population. Epidemiological data relative to students of the faculty of medicine and soldiers residing in Ferrara (author's transl)]. / Indagine tubercolinica e suo significato ai fini di una correta prevenzione in popolazione ad alto rischio. Dati epidemiologici in studenti della Facoltà di Medicina ed in militari di Ferrara.

The Authors list the results obtained from a tuberculin survey carried out on students of the Faculty of Medicine of the University of Ferrara (school year 1977/1978) and on enlisting soldiers. A different skin positivity is here confirmed: a higher percentage in males (27.41%) than in females (17.91%). A higher frequency of positive responses is noted in students originating from the centre-south of Italy. Such tendency is principally due to the greater differences in skin positivity found in females. Students over 26 years of age show a skin positivity of more than 40%, whilst for 17 to 20 years old skin positivity ranges between 22% to 25%. The frequency of skin positivity in soldiers confirms the data found in male students of the same age group. Post vaccine control, although limited to a smaller group of students, shows a definite turn towards positivity with an average figure in both sexes of 63%. The Authors, although admit having carried out their survey on a small population, believe to have contributed with useful information on the epidemiological situation of tuberculosis in age groups with scarce statistical data.