Biomedical subjects
Publications and source records attributed to A Luciani.
We report the occurrence of sino-atrial and a-v node dysfunction in a case of tizanidine overdose. Possible pathphysiological mechanism of arrhythmias and its clinical significance are presented.
Walker-Warburg syndrome is a congenital malformation syndrome of unknown etiology which is characterized by fatal neurological lesions. It was first described by Walker in 1942 as involving agyria, hydrocephalus and eye malformations. Its etiology has been discussed in all of the articles on the subject in the literature, but the majority of the authors describe it as an autosomal recessive syndrome. Ultrasonography plays a key role in detecting a cephalic anomaly by prenatal diagnosis as in our 2 cases. The aim of this article is to report 3 new cases of Walker-Warburg syndrome in two families. Knowledge of this syndrome emphasizes both the need for ultrasonographic observation and genetic counselling for families at risk.
The name Fryns syndrome was given to a new variable multiple congenital anomaly syndrome, almost always lethal, described in 1978, and now known to be autosomal recessive. Since that date, 20 patients have been reported in the literature. We describe 8 new cases, 6 of which were diagnosed in a series of 112,276 consecutive births (livebirths and perinatal deaths). The prevalence of this syndrome can be estimated to be around 0.7 per 10,000 births. These new cases confirm that the most frequent anomalies are diaphragmatic defects, lung hypoplasia, cleft lip and palate (often bilateral), cardiac defects (septal defects and aortic arch anomalies), renal cysts (type II, III or IV), urinary tract malformations, and distal limb hypoplasia. Most patients also have hypoplastic external genitalia and anomalies of internal genitalia (bifid or hypoplastic uterus, immature testes). The digestive tract is also often abnormal: duodenal atresia, pyloric hyperplasia, malrotation and common mesentery are present in half of the patients. When the brain was examined, more than half were abnormal (Dandy-Walker anomaly and agenesis of corpus callosum). A few patients demonstrated cloudy cornea. We examined the eyes of three patients histologically: two of them showed retinal dysplasia with rosettes and gliosis of the retina, thickness of posterior capsula of lens and irregularities of the Bowman membrane. Four of our cases were diagnosed prenatally between 24 and 27 weeks. It is to be expected that prenatal diagnosis will be made often and earlier in the future, as the spectrum of anomalies of the Fryns syndrome can easily be evidenced by sonography.
1. The aim of the study was to examine the responses of plasma glucose, C-peptide immunoreactivity (CPR) and total immunoreactive insulin (IRI) to a standard meal in heroin addicts, since the presence of immunoreactive beta-endorphin has been demonstrated in human endocrine pancreas. 2. Ten heroin addicts and 10 control subjects participated in the study. The addicts had been taking heroin (from 0.5 to 2 g/day) for at least 2 months and they had no detectable diseases. 3. After a 12 h fast, each subject received a standard meal; blood samples were taken at -15, 0, 15, 30, 60 and 120 min to determine glucose, CPR and IRI. Calculation of the CPR/IRI molar ratio was used as a semiquantitative estimation of the hepatic extraction of insulin. 4. No difference in plasma glucose was observed between the groups. Addicts had lower CPR than normals at 15, 30 and 120 min (P less than 0.01). On the contrary, IRI was higher in addicts than in normals (P less than 0.05 at -15 and 0 min, P less than 0.01 at 15, 30 and 60 min), except at 120 min. The CPR/IRI molar ratio was lower in addicts (P less than 0.01). 5. Heroin addiction seems to produce a beta-cell failure and contemporaneously a state of hyperinsulinaemia; blood glucose remains in the normal range. 6. We conclude that chronic heroin addiction may produce a change in the rate of hepatic extraction of insulin.
In normal subjects, the early human pancreatic polypeptide (hPP) increase induced by food is mainly dependent on vagal activity. Parasympathetic function and plasma hPP response to a standard mixed meal were evaluated in 10 long term insulin-dependent (type I) diabetic patients (group A), 6 age-matched newly diagnosed type I diabetic patients (group B), and 8 normal subjects. The indices of vagal function (beat to beat heart rate variation during deep breathing and the Valsalva maneuver) were uniformly altered in group A, while they were in the normal range in group B, thus excluding in these latter patients the presence of vagal damage. Plasma hPP in response to standard mixed meal was measured at 5, 15, 30, 60, and 120 min. Fasting plasma hPP concentrations (determined by RIA) in groups A and B (mean +/- SEM, 113 +/- 21 and 83 +/- 21 pg/ml, respectively) did not significantly differ from normal (59 +/- 12 pg/ml). In group A, the initial meal-induced hPP increase was significantly lower than normal (5 min, 139 +/- 12; 15 min, 173 +/- 24; 30 min, 137 +/- 17 pg/ml; P less than 0.01 vs. 5 min, 412 +/- 76; 15 min, 446 +/- 57; 30 min, 325 +/- 56 pg/ml). All group B patients had a marked early increase in the peptide, similar to that in the normal subjects. These results suggest that diabetic autonomic neuropathy is associated with dysfunction of hPP secretion, and the evaluation of hPP in response to SMM may be considered a sensitive and nonstressful method for the assessment of parasympathetic impairment in diabetes.
The clinical value of measuring biliary acids in various chronic liver disease was investigated. The sample examined included 17 healthy subjects, 16 patients with active chronic hepatitis, 15 with cirrhosis of the liver and 14 with cholestatic cirrhosis. The following parameters were considered in each patient: blood bilirubin, gamma GT, alkaline phosphatase, cholinesterase, blood cholesterol, Quick time. The total pool of biliary acids was assayed by the enzymatic method on samples taken in the morning before breakfast and two hours after intake of 600 mg ursodeoxycholic acid. Total biliary increased with the progression of the pathological condition. Unlike all other indicators biliary acid assays after oral loading with ursodeoxycholic acid makes it possible to distinguish between subjects with active chronic hepatitis and those with cirrhosis of the liver.
Human pancreatic polypeptide is the only hormone so far reported which clearly suppresses somatostatin release, suggesting that this peptide may have a role in controlling somatostatin secretion from the gut and pancreas. In this study endogenous high circulating human pancreatic polypeptide concentrations in patients with chronic renal failure do not decrease somatostatin circulating levels. The reduced clearance rate of somatostatin in chronic renal failure may partially account for the normal circulating levels of somatostatin observed in our patients with respect to controls. Renal insufficiency may, itself, induce an increase in some gastrointestinal peptides capable of stimulating somatostatin secretion.
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In the female rabbit hypothalamus (HYP) the luteinizing hormone-releasing hormone (LHRH) and catecholamines (CAT) are mostly present in the granules and vesicles. A fraction of granules containing LHRH and vesicles containing CAT was obtained with 70% purity by ultracentrifugation in sucrose gradient. This fraction was devoid of synaptosomes.
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The relationships between exogenous and endogenous insulin and plasma human pancreatic polypeptide (hPP) were investigated. Three tests were performed in 8 healthy subjects: 1 degree--1 g tolbutamide was injected i.v. in 1 min., 2 degrees--50 ml 50% glucose solution and 7 U of Insulin were contemporaneously infused at constant rate for 60 min., 3 degrees--50 ml saline solution were infused as control. After the tolbutamide injection plasma glucose levels were unchanged between 0-10 min. At 5, 10, 15 min. an increase in C-Peptide (CPR) value and a significant decrease of hPP were observed. At 15, 30 and 45 min. plasma glucose was significantly lower than baseline and hPP levels strongly rose until the end of the test. The glucose-insulin infusion testing resulted in a rise in plasma glucose and CPR levels at 15 min. and a fall in plasma hPP at 30 min. The present findings suggest that in the first part of tolbutamide test, the endogenous insulin secretion, valued as CPR, seems to inhibit hPP release probably through a paracrine pathway.
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