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The authors investigated the behaviour of some markers of the haemostatic balance in a group of patients with acute focal cerebral vasculopathy. The series consists of 70 female patients (mean age: 61 +/- 5), 25 of whom suffering from TIA and 45 from thrombotic stroke; 40 normal controls (mean age 43 +/- 5) were also considered. For each patient after an overnight fasting a withdrawal of venous blood was done within 24-36 hours after the admission. For each sample the determination of seven prothrombotic markers [(fibrinogen (F), factor VII (F VII), antithrombin III (AT III), protein C (PC), protein S (PS) (coagulometric method IL), tissue plasminogen activator (t-PA), plasminogen activator inhibitor (PAI-1) (ELISA method Boehringer)] and of three prethrombotic markers [(fibrinopeptide A (FPA), beta-thromboglobulin (BTG) and D-dimer (D-D) (ELISA method, Boehringer)] was performed. The results obtained in the group of the cerebrovasculopathic patients compared to the controls showed a significant increase of F (p < 0.001), F VII (p < 0.005), BTG (p < 0.05) and D-D (p < 0.01), whereas significant differences regarding AT III, PC, PS, t-PA, PAI and FPA were not observed. The authors hypothesized that the increased levels of fibrinogen and factor VII in the cerebrovascular subjects, globally considered, may depend on a marked prothrombotic state, linked in a pathogenetic sense to the vascular disease; the existence of a prethrombotic state is also documented by the increase of betathromboglobulin and D-dimer.(ABSTRACT TRUNCATED AT 250 WORDS)

The authors carried out an investigation on the "short" and "middle-term" effect of the prostanoid derivate iloprost on some molecular haemostatic markers in a group of peripheral vasculopathic patients with critical limb ischemia. The series consists of 10 patients (6 males, 4 females, age 52 +/- 5) suffering from peripheral obstructive vasculopathy at the III-IV stage by Fontaine. After overnight fasting, each patient was given an intravenous infusion of iloprost lasting six hours at the rate of 2 ng/kg/min and reaching approximately the global dosage of 50 gamma; before and after the infusion a venous blood sample was withdrawn; the experiment was repeated under the same conditions after a four week treatment with the drug administered daily at the same dosage. For each sample the plasma levels of betathromboglobulin (BTG) fibrinopeptide A (FPA), tissue plasminogen activator (tPA), plasminogen activator inhibitor (PAI-I) and D-dimer (D-D) (ELISA, methods, kits Boehringer) were measured. The basal values of BTG, FPA, tPA, PAI-I and D-D were significantly increased compared to those of a control group; after the iloprost infusion (acute effect) significant changes of the BTG, FPA, tPA and PAI-I were not found; D-D only showed a marked reduction (p < 0.05); after the four week treatment with infusion the basal values of BTG, FPA, tPA and PAI-I resulted almost unchanged; D-D only showed a marked reduction (p < 0.05) both as regards the basal value and those after the infusion.(ABSTRACT TRUNCATED AT 250 WORDS)

431 newborns of diabetic mothers (NDM) were studied between the years 1980 and 1990. They were divided into two groups: a first group of 227 patients born from mother with gestational diabetes mellitus; a second group of 204 patients born from mother with pregestational diabetes mellitus. The first and the second group were subdivided into two subgroups: the A, referring to the period 1980-85, and the B, referring to the period 1986-90. Subgroups B were characterized by a better metabolic control of pregnancies. Our protocol consisted of anamnestic study, clinical, metabolic, instrumental examinations and clinical follow-up for a period ranging from 1 to 10 years. The study of our data suggests that embryo-feto-neonatal mortality doesn't show significantly difference between the first and the second group and between subgroups A and B. The percentage of preterm infants was significantly more elevated in the second group, the percentage of full-term newborns was significantly higher in the first group. The incidence of cesarean sections was significantly higher in subgroups B. Mean birthweight was more elevated in the first group and the incidence of macrosomia was higher in subgroups A. The incidence of asphyxia, hypotonia, seizures, transient cardiomegaly, transient hypoglycaemia and hypocalcemia, was higher in subgroups A, without significant difference between the first and the second group. Congenital anomalies were heterogeneous and there were no significant difference between the first and the second group. Only the incidence of congenital cardiopathies was significantly more elevated in the second group. At follow-up neurologic sequelae were mainly characterized by behavioural anomalies.

Thyroid function was evaluated in patients affected by Fisher-Evans syndrome (FES) and compared to that of patients affected only by autoimmune hemolytic anemia (AIHA) and to that of patients affected only by idiopathic thrombocytopenic purpura (ITP). The study population consisted of 20 patients with FES, 44 with AIHA and 20 with ITP. All patients were examined for thyroid function abnormalities and thyroid autoantibodies. Abnormal thyroid function test results were observed in 40, 25 and 10% of the patients, respectively. The prevalence of antithyroid antibodies (ATA) in FES was 25%; this is higher than the sum of the prevalences of ATA in patients affected only by AIHA (11.4%) or only by ITP (none). Subclinical primary hypothyroidism and hyperthyroxinemia with or without hypertriiodothyroninemia, with TSH serum levels below normal, were present in 20% and 10% of patients affected by FES, respectively. Of the former, 75% were positive for ATA. These results: i) confirm the high prevalence of abnormal thyroid test results in patients affected by AIHA, ITP and FES; ii) demonstrate the higher prevalence of autoimmune hypothyroidism in FES; iii) lead to the possibility of including FES as one of the multiple autoimmune syndromes.

In order to assess the interrelationships between the lipemic and the haemostatic balance the Authors studied the behaviour of some thrombotic markers in hyperlipemic subjects. The series consists of 35 subjects (15 m, 20 f, mean age 56 +/- 9 years) suffering from primary polygenic hyperlipoproteinemia of type IIA (23 cases) and type IV (12 cases) (cholesterol and triglyceride values exceeding respectively 250 and 180 mg%); 38 control subjects matched for sex, age and body weight were also examined; all the subjects were without hepato-renal and endocrine-metabolic disorders as well as without clinical signs of arteriosclerotic vasculopathy. For each subject the Authors performed the assay of the fasting plasma levels of total cholesterol (TC), triglycerides (TG) (enzymatic methods), fibrinogen (F) (coagulometric method), factor VII (coagulometric method) (F VII), antithrombin III (AT III) (chromogenic method), tissue activator of plasminogen (tPA), beta-thromboglobulin (BTG) and D-dimer (D-D) (ELISA method). The type IIA hypercholesterolemic subjects showed a not significant trend in a thrombophilic sense of the markers (increase of F, F VII, BTG and D-D, decrease of AT III); the type IV hypertriglyceridemic subjects exhibited a significant (0.05) increase of factor VII, BTG and D-D compared to the control subjects.(ABSTRACT TRUNCATED AT 250 WORDS)

Hemostatic disorders in coronary heart disease and cerebrovascular disease patients were examined by studying two groups of prothrombotic and prethrombotic markers. Sixty subjects (28 male, 32 female aged 64 +/- 6 years) were included in the study of which 30 suffered from coronary heart disease and 30 from cerebral vascular disease; the first group was subdivided into those subjects with quiescent preinfarction angina (21 cases) and those with acute myocardial infarction (9 cases), whereas the second group was subdivided into subjects with cerebral stroke (20 cases) and those with TIA (10 cases). Each subject underwent an assay to assess fasting blood levels of fibrinogen, factor VII, antithrombin III (using a chromogenic method), plasminogen tissue activator, beta-thromboglobulin and dimer-D (ELISA method) 24 hours after being admitted to hospital. From an analysis of results it was observed that of the four prothrombotic markers used, fibrinogen and factor VII showed a generic increase in comparison to coronary heart disease and cerebrovascular disease patients; this was paralleled by significant reduction of antithrombin III; differences were even more marked and significant in acute thrombo-occlusive (infarction, stroke) compared to functional forms (angina, TIA). In line with other studies, the Authors favour an irritative type endothelial response leading to a marked and surprising increase of tPA. The two prothrombotic markers (BTG, D-D) also showed a thrombotic development in the two groups of patients examined with more significant findings in the occlusive forms (infarction, stroke) in comparison to transitory forms. On the basis of these and other published results the Authors confirm the usefulness of monitoring prothrombotic markers (fibrinogen, factor VII, AT III) in apparently normal subjects with or without risk factors or with slight initial signs of arteriosclerotic disease; these call for longitudinal or cross-sectional studies of an epidemiology type, in addition to isolated assay for a generic assessment of the patient's biological status, even if it is not yet possible to elaborate a protocol for the certain and specific diagnosis of a thrombophilic condition. The value of prethrombotic markers is apparent in the acute occlusive stage of the disease as a form of prognostic and therapeutic monitoring, and in preinfarction and above all silent transitory forms where, together with the use of other techniques (Holter), it provides interesting openings for confirming the diagnosis of an in vivo microthrombotic genesis and the consequent introduction of antithrombotic drug therapy.

The Authors studied the behaviour of some prothrombotic (fibrinogen, factor VII, antithrombin III and tissue plasminogen activator) and prethrombotic (beta thromboglobulin, D-dimer) markers in a group of obese subjects in relation to various physiopathological parameters. The series consist of 93 obese subjects (29 m, 64 f, mean age 55 +/- 6 yrs, BMI 33 +/- 1), of whom 62 suffering from type 2 diabetes in good metabolic control obtained by oral hypoglycemic (42 cases) or insulin (20 cases) treatment. For each subject the Authors determined the plasmatic levels of glucose, total cholesterol, triglycerides (enzymatic method, Boehringer kits), fibrinogen (coagulometric method, Organon kit), factor VII (chromogenic method, IL kit), antithrombin III (chromogenic method, IL kit), tissue plasminogen, beta thromboglobulin and D-dimer (ELISA method, Boehringer kits). The results were examined in relation to sex, age, overweight degree, waist/thigh ratio, total cholesterol, triglycerides and, for diabetics, to the therapeutical treatment. The fibrinogen plasma levels proved statistically (0.05) increased proportionally to the overweight degree (BMI over 35), cholesterol levels (over 250 mg%) and age (51-65 yrs); factor VII showed a significant increase (0.05) related to the cholesterol levels, the overweight degree and, surprisingly, to female sex; as regards antithrombin III, its sharp reduction was related with ageing and with the "gynoid type" waist/thigh ratio; tissue plasminogen activator showed a statistically significant reduction (0.05) in the group with older age (over 65 yrs); the beta thromboglobulin levels were obviously increased (0.05) in the hypercholesterolemic and hypertriglyceridemic subjects (over 250 mg%), the D-dimer values increased proportionally with age (0.05).(ABSTRACT TRUNCATED AT 250 WORDS)

The study aimed to evaluate the behaviour of two pre-thrombotic markers (hyperfibrinogenemia and hypoanti-thrombinemia) in obesity which is considered a factor of atherogenous risk. Ninety-three obese subjects were included in the study (29 M, 64 F, mean age 55 +/- 6, BMI 33 +/- 1), including 62 Type 2 diabetics. The following were assayed in each subject: glucose, total cholesterol, triglycerides (enzymatic method), fibrinogen (coagulometric method) and anti-thrombin III (chromogenic method). Results were assessed in relation to sex, age (0-50, 51-65, over 65), BMI (upto 30, 31-35, over 35), waist/hip ratio (upto 0.95, 0.96-1.02, over 1.02), cholesterolemia (upto 200, 201-250, over 250 mg%) and triglyceridemia (upto 150, 151-200, over 200 mg%). A significant increase (0.05) in fibrinogenemia was observed in the subjects aged between 51-65, with BMI above 35, with an intermediate waist/hip ratio (0.96-1.02) and with cholesterolemia over 250 mg%; reduced values of anti-thrombin III were found in subjects over 65 years old and with the lowest waist-hip ratio (upto 0.95); no significant data were obtained for the other parameters and for the correlation between fibrinogen and anti-thrombin III. The pro-thrombotic importance of hyperfibrinogenemia is underlined in obese subjects; this is proportional to age, to the degree of overweight and levels of cholesterolemia, even if equivocal results emerge with regard to the "android" variety. The reduction of anti-thrombin III is correlated to senility and, surprisingly, to the gynoid-type waist/hip ratio.(ABSTRACT TRUNCATED AT 250 WORDS)

Rubinstein-Taybi is a rare malformative syndrome characterized by dysmorphic features and mental retardation. Early diagnosis in neonatal age can be facilitated by the presence of characteristic broadening of the distal phalanges of thumbs and great toes. Most of the cases are sporadic. Associated malformations such as bone anomalies, heart malformations, cell immunity deficits and metabolic alterations have been observed. This paper reports the first case of Rubinstein-Taybi syndrome associated with Dandy-Walker type cerebral malformation diagnosed in the neonatal period.

The function of the thyroid pituitary axis was investigated in 8 anencephalic infants with no hypothalamus. Thyrotrophin (TSH), thyroxine (T4), 3,5,3'-triiodothyronine (T3) and 3,3',5'-triiodothyrone (reverse T3 and rT3) were measured in the cord blood in 5 cases and during the first 4 h of life in 3 cases. TSH response to synthetic thyrotrophin-releasing hormone (TRH) (200 microgram iv) was carried out in two cases and thyroid hormone response to bovine TSH (5 IU iv) was evaluated in 3 cases. The following results wre obtained: 1) The pituitary gland was found in all infants and the thyroid was normal both grossly and by microscopic sections. 2) TSH levels at birth were normal but there was no spontaneous post-delivery surge. 3) T4 and T3 values at delivery were within normal range, but no T3 increase was present after birth. rT3 levels at birth were higher than normal in 3 cases. 4) Administration of TRH caused a marked and rapid TSH release. 5) Thyroid hormone response to TSH was normal. The present findings suggest that in the anencephalic foetus both pituitary TSH-secreting cells and the thyroid gland do develop despite the absence of the hypothalamus and are able to function if adequately stimulated.

The authors report a newborn infant affected by terminal transverse hemimelia of the right lower limb, associated with symmetric malformations of the hands, simulating the "amniotic bands syndrome". The symmetric hand anomalies and the presence of slight malformations of the left lower limb lead us to think that the etiology of this case is genetic, probably related to a new mutation.

Anencephaly provides a unique model for studying endocrine functions in absence of hypothalamic influence. We previously reported that in anencephalic newborns both pituitary TSH-secreting cells and the thyroid were normal and were able to function if adequately stimulated. In order to verify if the normal development of the pituitary-thyroid axis in these infants depends on TRH of extrahypothalamic origin, we measured endogenous TRH levels in the clear fluid of a cyst of the cerebro-vasculosa in 4 anencephalic newborns. In these cysts were also injected 200 micrograms of synthetic TRH and evaluated TSH response in peripheral blood samples. Endogenous TRH was detectable in the cysts of the cerebro-vasculosa in 3 of the 4 infants. In all 4 cases serum TSH sharply increased after TRH administration. Our data suggest that the normal development of the pituitary-thyroid axis in anencephalic infants either requires no TRH or depends on extrahypothalamic TRH. In this latter case TRH produced by other areas of the central nervous system might be secreted into the cysts of the cerebro-vasculosa, actively transported to the hypophyseal vessels, and might thus reach the pituitary to stimulate TSH-cells growth and function.

The Authors reported 4 cases of Poland Syndrome. In one of these was possible to perform a skin and muscle biopsy. The clinical aspects of the patients, compared with those observed in the literature are reported. The disease is a malformative syndrome, and the histological features of skin and muscle appeared not structurally affected.

We described two sibs born to consanguineous Sicilian parents who died of severe congenital heart malformation. Both had dextrocardia; however, only the girl had situs viscerum inversus. At necropsy she was found to have a right spleen and right pulmonary isomerism (three lobes in each lung, as commonly found in the asplenia syndrome). This observation, together with other literature reports, suggest that isolated dextrocardia, situs viscerum inversus, and the asplenia-polysplenia complex may be different end results of a unique dysmorphogenetic process involving the embryonic midline.