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Biomedical subjects

S Di Blasi

Publications and source records attributed to S Di Blasi.

At least 19 recordsLinked to original sources

Seckel's syndrome: a case report.

The authors describe a case similar to the complex syndrome described by Seckel (1960), "dwarf-headed dwarfism." This case differs from others previously reported because of slight hypophyseal hypoplasia with a slight reduction of human chorionic gonadotrophin (HCG) serum levels, and because of the parent's consanguinity (first cousins). A comparative critical examination was carried out on the 44 cases of Seckel's syndrome described in the literature. Only 19 of these cases appear to be comparable with Seckel's description, while the others are dubious, due to incomplete data. Some can be identified as ordinary cases of dwarfism with microcephaly or mental deficit. Until more precise and objective parameters are established, it would be advisable to refer to this particular form of dwarfism as "Virchow-Seckel type dwarf-headed dwarfism," in order to avoid using the more binding term "syndrome" and the misleading term "bird-headed."

Abnormalities, Multiple↗

[Influence of high environmental temperature on various parameters of blood coagulation in healthy subjects and in thrombosis risk patients].

The effects of environmental hyperthermia (exposure to a hot, dry microclimate) on the human body were investigated with particular reference to certain clotting parameters in healthy subjects and patients at risk of thrombosis. The study covered 70 volunteers, 10 of them clinically healthy (6 males and 4 females) aged 37.7 +/- 9.7 and 60 patients at risk of thrombosis aged 18-60 and divided according to pathology as follows: 26 with ischaemic cardiopathy, 22 with metabolic disorders (12 diabetics, 8 with dyslipidaemia, 2 with hyperuricaemia) and 12 with obliterating arteriopathies of the lower extremities (Fontaine stage 2 and 3). The following standardised protocol was adopted: 2 hours exposure in a controlled climate chamber (40 degrees C, 40-50% humidity, standard air speed 4 m/min, barometric pressure 760 mmHg) for a total of 8 exposures (2 per week for 1 month). This approach was adopted in order to assess not only the effect of each single exposure but also the role of any adaptation to heat. Three blood samples were taken from each subject for each session: the first in basal conditions in a comfortable environment, the second at the end of the 2 hour exposure; the third 30 minutes after the end of the session. Simultaneously samples of arterial blood were taken for pH assays and a spleen echography was performed in basal conditions and at the end of the session for each subject. Each blood sample was tested for several parameters essentially attributable to blood concentration for a broader view of the biological effects of exposure to heart (Ht, blood protein, Nat, K+). The clotting factors under specific study were also assessed (platelet count and volume, beta-thromboglobulin, PF4, von Willebrand Factor VIII, thromboxane B2, fibronectin). Body weight, blood pressure and oral temperature were also measured in all subjects before and after each session. In all subjects both healthy and at risk of thrombosis oral temperature increased (1 +/- 0.4 degrees); on average blood pressure was already higher in basal conditions in the patient group; body weight fell by 900 +/- 120 G in both groups. Ht and blood protein increased significantly in both groups while electrolyte changes were insignificant and blood pH showed a tendency towards acidosis. Clotting parameters revealed a tendency towards thrombophilia in all subjects: platelet count and volume were already higher in the patient group in basal conditions and increased after exposure to hyperthermia. Beta-thromboglobulin, FP4, Factor VIII, thromboxane B2 and fibronectin all increased.(ABSTRACT TRUNCATED AT 400 WORDS)

Adolescent↗

[The polycystic kidney and serum alpha-1-antitrypsin deficiency. Observations on 2 family groups].

The purpose of this study was to analyze the relation between association of alpha 1-antitrypsin (AAT) deficiency (an inborn error of metabolism) and familial polycystic disease of the kidney. Emphasis is laid on coexistence of two the pathological fitness in some members of two family tree. Based on the presented findings it seems reasonable to conclude that AAT-deficiency may be correlated to the pathogenesis of polycystic kidney.

Female↗

Prostacyclin does not affect insulin secretion in humans.

The effects of Prostacyclin (PGI2) infusion on insulin secretion and glucose tolerance were investigated in 7 healthy subjects. PGI2 infusion caused no statistically significant changes of either glucose or insulin concentration, over the range 2.5-20 ng/Kg/min. A constant PGI2 infusion (10 ng/Kg/min) did not inhibit acute insulin responses to a glucose (20 g i.v.) pulse (response before PGI2 = 612 +/- 307%; during PGI2 = 515 +/- 468%, mean +/- SD, mean change 3-5 min insulin, % basal; P=NS). Glucose disappearance rates were similar after the first and second glucose pulse. Thus, in contrast to PGE2, PGI2 does not affect insulin secretion nor glucose disposal at doses producing platelet and vascular changes. It is hypothesized that an altered PGI2/PGE2 balance in diabetes may represent a link between vascular, platelet and metabolic changes.

6-Ketoprostaglandin F1 alpha↗

[Alkaline phosphatase isoenzymes and alpha-1-fetoprotein in hepatic neoplasms].

A study was made of possible relations between the placental alkaline phosphatase-isoenzyme (PAP), alpha 1-fetoprotein and liver neoplasia. Ninety-six with various liver diseases were examined, including 10 with primary and 16 with metastatic carcinoma. It was found that both PAP and AFP may be present in a certain percentage of subjects in this pathology. PAP (observed in 30% of cases of primary carcinoma and 43.6% of metastatic forms, as opposed to only 5.6% in cirrhotics) proved much more specific than AFP, which was present in both types of cancer (albeit at much lower concentrations) and also in acute, active chronic and persistent hepatitis, and in cirrhosis of the liver. The theories presented in the relevant literature are discussed in an attempt to explain the "reawakening" of both PAP and AFP, especially in liver neoplasias.

Alkaline Phosphatase↗

[Complete atrioventricular block in a youth with mitral prolapse].

A case of total A-V block observed in a 16 year old who had been suffering for two years from episodes of MAS and in whom further investigation revealed a prolapse of the rear flap of the mitral valve is reported. In the light of literature data, possible relations between the two conditions, A-V block and mitral valve prolapse are reviewed. In view of the youth of the patient, it is considered that the pathogenic agent underlying mitral valve prolapse (probable rheumatic aetiology) was also responsible for the conduction disturbance.

Adolescent↗