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."

A temporary endoscopic solution that significantly improves the prognosis of Bouveret's syndrome.

We report the case of a 73-year-old woman who was hospitalized for mild abdominal pain after her referral following a diagnostic assessment of acute lithiasic cholecystitis. After the spontaneus regression of her painful symptoms and fever and several days of well-being, her clinically acute abdominal features suddenly showed an obstruction of the upper gastrointestinal tract. An emergency esophagogastroduodenoscopy (EGDS) confirmed that a large gallstone completely obstructed the pylorus as previously demonstrated by an ultrasound examination of the gallbladder. During the course of endoscopy, removal of the gallstone from the duodenum was achieved by pulling it into the stomach; the patient underwent an operation, the gallstone was removed, and the cholecystoduodenal fistula resolved. Postoperative procedures and recovery were rapid and favorable.

[Long-term effects of indobufen on several parameters of blood platelet function in subjects at thrombotic risk]. / Studio degli effetti a lungo termine dell'indobufene su alcuni parametri di funzione piastrinica in soggetti a rischio trombotico.

Indobufen (200 mg b.i.d., by os, for 21 days) was gave to 16 patients with atherothrombotic risk in which platelet function was valued. In this subjects, indobufen significatively reduced platelet aggregation, beta-thromboglobulin, platelet factor the 4th and alpha-platelet granules' intake. No side effects were found.

[Influence of high environmental temperature on various parameters of blood coagulation in healthy subjects and in thrombosis risk patients]. / Influenza dell'elevata temperatura ambientale su alcuni parametri della coagulazione in soggetti sani ed in pazienti a rischio trombotico.

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)

[The polycystic kidney and serum alpha-1-antitrypsin deficiency. Observations on 2 family groups]. / Rene policistico e deficit di alfa1-antitrypsina sierica. Osservazioni su due gruppi familiari.

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.

[Carcinoid syndrome due to bronchial adenoma. Observation of a case]. / Sindrome carcinoide da adenoma bronchiale. Osservazione di un caso.

A brief account of certain histopathological and clinical features of bronchial carcinoids is followed by the description of a case of bronchial adenoma marked by the absence of detectable histochemical argentaffinity, the presence of a carcinoid syndrome, and elevated blood 5-HT and urinary 5-HIIA. Attention is drawn to the existence of the syndrome, which is usually absent in biogenic-amine-secreting adenomas of the bronchi, and an explanation for the picture is sought. The conclusion is drawn that 5-HT and 5-HIIA determinations are advisable in all cases of bronchial adenoma, since it is obvious that early diagnosis of a carcinoid syndrome will have repercussions at the therapeutic level.