Search PubMed⌕ Search

Biomedical subjects

F Di Gregorio

Publications and source records attributed to F Di Gregorio.

At least 91 records · Page 5Linked to original sources

Unusual combination of genetic defects in a Sicilian family: beta-thalassaemia, haemoglobin Lepore Boston-Washington and heterocellular hereditary persistence of fetal haemoglobin.

This paper reports a Sicilian family in which beta-thalassaemia, haemoglobin Lepore Boston-Washington and heterotocellular hereditary persistence of fetal haemoglobin (HPFH) were present in various combinations. The most interesting combination was that of Hb Lepore and heterocellular HPFH, which has not been previously reported. This subject was clinically normal, with the haematological picture of Hb Lepore trait and an unusually high level of HbF due to an increased number of circulating F cells.

Adult↗

On the changes of the time course of the end-plate current during repetitive stimulation.

In a previous study it was observed that prolonged repetitive stimulation (10.s-1) markedly lengthened the time course of the end-plate current. In order to investigate whether this effect could be due to a more dispersed release of the mediator or to a decreased clearance of the mediator from the synaptic cleft, the rise time of the end-plate current and of the miniature end-plate current were analyzed. The results show that presynaptic factors may be involved.

Animals↗

The effect of colchicine on neuromuscular transmission in the frog during repetitive stimulation.

When colchicine 10(-4) mol . l-1 was applied at the beginning of repetitive stimulation of the nerve at 10 s-1, the facilitation was markedly inhibited. The quantal content showed a very slight increase and its maximum value was reached later. The maximum frequency of spontaneous release was also reached later in the presence of colchicine than in the absence of the drug. In addition, the synaptic delay was much more pronounced in the presence of colchicine than in the control experiment. The results suggest that a partial block by colchicine of the release process in the nerve terminal occurs. This effect may be due to the action of the drug on the nerve terminal membrane. The results cannot exclude the possibility that colchicine interferes with the transport of vesicles towards the sites of release located on the membrane.

Action Potentials↗

Clinical and biochemical reactivation of HBV infection in a thalassemic patient after bone marrow transplantation.

The case of a young man affected by homozygous beta-thalassemia is reported who had serologic findings of a prior HBV infection and who presented with clinical and biochemical acute HBV infection probably caused by HBV reactivation after allogeneic bone marrow transplantation. The patient's clinical history suggests that HBV can persist without serological findings of HBsAg and HBV-DNA in persons previously infected by HBV and that HBV reactivation can occur 2 years after allogeneic bone marrow transplantation, as a result of immunosuppressive therapy or an HCV activation.

Adult↗

Changes in regional cerebral blood flow after a cold hand test in systemic lupus erythematosus patients with Raynaud's syndrome.

The appearance of vasospastic features in the central nervous system (CNS) after a cold stressor test was Investigated through single photon emission computed tomography (SPECT) of regional cerebral blood flow in patients with systemic lupus erythematosus, with and without Raynaud's syndrome, and in scleroderma patients. We have shown that Raynaud's syndrome may occur in the CNS and that anticardiolipin or lupus anticoagulant positivity may favour perfusion defects.

Adult↗

[Bone metabolism markers in thalassemia].

The A.A. performed a screening on 113 patients affected by beta-thalassemia major ranging in age between 2 and 40 years, randomized among those which come to the Microcitemic Center of our Institute, and in a control group. In everybody, serum levels of calcium, phosphate, parathyroid hormone (PTH), calcitonin and 25-OH vitamin D were measured. Average serum levels of PTH were significantly (P < 0.001) lower in patients than controls and 12.4% of them were clearly under normal range, especially in the group above 16 years of age. Also serum levels of 25-OH vitamin D were lower in thalassemic subjects than in controls, because of the presence of 32 patients with values under normal limit. Our results are in agreement with current literature that underline the increasing incidence of endocrine complications in thalassemic patients which undergo to high transfusion regimens, owing to the increase of emosiderosis due to the low compliance to iron chelation therapy. Controversial is the pathogenesis of the absence of hypocalcemia in many patients with hypoparathyroidism and the determinism of the deficit of vitamin D.

Adolescent↗

[Headache as atypical presentation of celiac disease: report of a clinical case].

Coeliac disease (CD) is a gluten dependent enteropathy with genetic predisposition. The introduction of the gluten with the diet leads to a damage of the intestinal mucosa losing the ability of absorption. Together with the "classic forms", in wich the intestinal symptomatology is prevalent, there are atypical forms, with unusual clinical presentation and silent forms with no clinical symptoms. The neurologic symptoms are not frequent and regard seizures, headache, ataxia and psychiatric problems. We report on a patient with headache since 3 years of age in which the headache the only manifestation of CD. The diagnosis of CD was made at 11 years, when he came at our observation for episodes of headache. Also the older sister is found affected by CD. After three months of gluten free diet, it was obtained the complete resolution of the headache. Also if the pathogenesis of the headache in patient with CD is unknown we think that a autoimmune, vascular or blood flow mechanism could be ipotizeable.

Celiac Disease↗