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Biomedical subjects

F Belfiore

Publications and source records attributed to F Belfiore.

At least 37 records · Page 2Linked to original sources
PubMed1998

Genetic deficiency of factor VII and hemorrhagic diathesis. A case report and literature review.

FVII deficiency is a rather rare inherited hemocoagulation disorder that predisposes to hemorrhagic events, especially from mucous membranes, that are not predictable and severe as in hemophilia A. This defect produces prolonged prothrombin time (PT), reduced activity of FVII and normal activated partial thromboplastin time (aPTT). We report the case of a 43-year-old obese woman with severe deficiency of factor VII (FVII), probably genetic in nature, and meno-metrorrhagia associated with multiple fibromas of uterus. Our patient had no history of bleeding in infancy and young age, and in the past, before the disease was diagnosed, underwent major surgery operations (thyroidectomy and caesarian section) without hemorrhage. Patient's relatives with mild heterozygous deficiency of FVII (the father, a brother, a sister, a sister's daughter and the patient's son) did not show any bleeding tendency. This case report is discussed in the light of literature data ((source: Medline from 1964 to 1996). The different forms of congenital (isolated or combined with other clotting disorders) and acquired FVII deficiency, with the appropriate therapies, are reviewed. The clinician must consider FVII deficiency in cases of recurrent bleeding, and this disease, even if rather rare, should not be underestimated in clinical practice because it is potentially fatal.

Adult↗
PubMed1997

[A rare case of juvenile diabetes mellitus associated with APECED (autoimmune poly-endocrinopathy, candidiasis and ectodermal dystrophy) with strong X-linked familial inheritance].

The polyglandular autoimmune syndromes (PGA) are well known and are distinguished into type I, type II and type III. PGAI, also called APECED (autoimmune polyendocrinopathy, candidiasis and ectodermal dystrophy), is an autosomal recessive disorder, appearing in childhood and typically characterized by hypoparathyroidism (unusual in PGAII and PGAIII) and adrenal insufficiency. In APECED, autoimmune destruction of the pancreatic beta cells with development of insulin-dependent type 1 diabetes is possible, but less frequent than in the other PGAs, especially PGAII. The pathogenesis of this unique autoimmune disease is unknown. No HLA association seems to exist and genetic studies have assigned the autosomal APECED locus to chromosome 21. The case of a 28-years-old female suggesting the diagnosis of APECED, is presented, characterized by psycho-somatic abnormal development, teeth alterations, post-puberal gonadal failure with dystrophic hypoplasia of external genitalia, previous vaginal candidiasis, a slowly developing juvenile brittle diabetes. Intestinal malabsorption induced by Giardia lamblia occurred (probably resulting, like candidiasis, from immunological anergy). A strong familiarity linked to female sex was noticed (the mother, a sister, the little nice and some maternal female cousins being affected) while the father and a brother were healthy. Diabetes seems to be characterized by early onset and severe complications. In this patient no organo-specific antibodies were detected and the only immunologic disorder was a small decrease of CD3 and CD4/CD8 ratio, both CD4 and CD8 being at the lower normal range. This patient (and her female maternal relatives) needs a long-term follow-up in order to evaluate the function of endocrine glands and to initiate early treatment for hormonal deficits, as well as to detect the non-endocrine components of disease.

Adult↗
PubMed1997

[Urticarial vasculitis syndrome. A case report and review of the literature].

Urticarial vasculitis (UV) is a primary syndrome or a cutaneous vasculitic lesion occurring in the course of a collagen disease, as the systemic lupus erythematosus (LE). UV is a recently recognized disorder which affects most exclusively the female sex and may be differentiated from common (nonvasculitic) urticaria because it is characterized by inflammation and necrosis of blood vessels (vasculitis). UV and common urticaria may be induced by a variety of factors and pathogenetic mechanisms. It seems that a continuum exists, ranging from benign cutaneous lesions of urticaria to vasculitis with strong immunological involvement. On the basis of the clinical evaluation, two major groups of UV have been classified, the normocomplementemic, with a less severe clinical course, and the hypocomplementemic UV, a rare immune complex-mediated disorder related to LE as for as the similar pathogenesis and systemic involvement are concerned. A case of a young female patient with a unique syndrome characterized by crises of urticarial recurrent painful lesions of unknown origin, associated with angioedema of the tongue and soft palate, severe malaise, arthralgias and abdominal pain is reported. Dyspnea and cough were sometimes present, but fever was absent. Symptoms were caused by physical stress, heat or pressure and were little responsive to corticosteroids. Although skin biopsy did not prove with certainty the occurrence of vasculitis, clinical data and laboratory findings (normal levels of complement fractions, raised erythrocyte sedimentation rate, presence of cryoglobulins and ASMA, nDNA and AMA autoantibodies and absence of ANA autoantibodies and LE cells) suggest a normocomplementemic UV, excluding a classic LE. The family doctors and the internist must become familiar with the "lupus-like" syndromes, which include UV. In fact, a correct diagnosis of this syndrome is important because, although prognosis of UV may not be severe, the possibility exists of a systemic involvement (mainly renal) with progression to LE.

Adult↗
PubMed1997

[Precordial discomfort and ECG changes of repolarization associated with hypomagnesemia in a young women following colectomy for diffuse colonic lipomatosis].

Aim of this paper is to describe and discuss, on the basis of the available literature, the case of a young woman, previously colectomized for diffuse lipomatosis of the colon, showing hypomagnesemia and symptomatic (precordial discomfort) changes of repolarization phase, detected by ECG, probably due to coronary spasm. This hypomagnesemia (1.4 mEq/1) was probably due to altered intestinal absorption of magnesium, linked to a short bowel syndrome. The ECG changes and the precordial symptom were completely reversed by a relative short treatment with magnesium per os, which increased the magnesium level to low borderline value (1.6 mEq/1). The observation of ECG changes with precordial discomfort, probably linked to hypomagnesemia, suggests the need for routinary magnesium determinations to detect deficiency of this electrolyte, with the scope of improving the diagnosis and the treatment of several symptoms, otherwise difficult to interpret.

Adult↗
PubMed1996

[Familial Marfan's syndrome. A critical review and presentation of a clinical case].

Aim of this paper is to describe and discuss, on the basis of an exhaustive review of literature, the case of a 14-year-old girl with familiar Marfan's syndrome. This disease is a generalized inherited disorder with involvement of connective tissue and symptoms affecting ocular, skeletal and cardio-vascular systems, usually diagnosed in young age and associated with a poor prognosis because of late severe aortic complications (dissection, dilation or aneurysms, regurgitation, etc.). The young patient sought to our medical attention because of severe leanness, delayed menarca and irregular menstruations; physical examination disclosed the typical "morphotype of Marfan" with long limbs, slenderness of hands and feet, severe kyphoscoliosis, narrow chest with "pectus excavatum", marked hyperextensible joints, and high arched palate with malocclusion. Echocardiography demonstrated a mild mitral valve prolapse. The 43-year-old patient's mother presented an undiagnosed Marfan's syndrome, despite typical morphotype, muscle-skeletal alterations and moderate dilation of ascending aorta. The maternal grand-mother deceased prematurely for cardiopathy of unknown origin. It is stressed that the disease should not be underestimated, because the early diagnosis is important for the patient's prognosis, allowing the early preventive surgical intervention for correcting aortic or valvular alterations. The echocardiography represents a sensitive and noninvasive mean, useful to manage the patients with proven or suspected aortic dilation. The subjects with Marfan's syndrome who exhibit rapid progression of aortic dilation, or an aortic diameter in excess of 50 mm, should be considered for an elective surgical intervention (at low mortality and suitable to increase remarkably the lifetime expectation). Women with syndrome of Marfan should be advised on the high cardio-vascular risk during pregnancy.

Adolescent↗
PubMed1995

Fatty acid synthesis from glutamate in the adipose tissue of normal subjects and obese patients: an enzyme study.

In the adipose tissue, besides fatty acid synthesis (FA-S) from glucose, which includes several mitochondrial steps, FA-S from glutamate has been demonstrated. FA-S from glutamate takes place in the cytosol through the backward pathway of Krebs cycle (BPKC) and is due to the sequential action of (1) alanine aminotransferase (ALT, EC 2.6.1.2), which is presence of pyruvate converts glutamate to oxoglutarate; (2) isocitrate dehydrogenase (NADP) (ICDH, EC 1.1.1.42), which converts oxoglutarate to isocitrate; (3) aconitate hydratase (ACO, EC 4.2.1.3), which transforms isocitrate to citrate: and (4) ATP citrate-lyase (ATP-CL, EC 4.1.3.8), which splits citrate to yield the acetyl-CoA needed for FA-S. We studied the enzymes involved in BPKC in homogenates of human adipose tissue. In normal subjects, the cytosolic activity (mumol/min/g protein) was: ALT = 10.3 +/- 1.1, ICDH = 29.5 +/- 2.8, ACO = 2.05 +/- 0.23, and ATP-CL = 1.2 +/- 0.2. Mitochondria contained less or no activity, values being 20, 9, 11, and 0% of total for ATL, ICDH, ACO, and ATP-CL, respectively. BPKC enzymes are more active than the enzymes limiting FA-S from glucose, i.e., phosphofructokinase (EC 2.7.1.11), pyruvate carboxylase (EC 6.4.1.1), and pyruvate dehydrogenase (EC 1.2.4.1). In the obese patients, cytosolic ALT and ATP-CL were increased (12.9 +/- 0.7, P < 0.05, and 2.28 +/- 0.27, P < 0.01, respectively) compared to normal, while ICDH was not changed (ACO could not be studied). Similar changes were obtained by expressing enzyme activity per fat cell number.(ABSTRACT TRUNCATED AT 250 WORDS)

ATP Citrate (pro-S)-Lyase↗
PubMed1994

Rabbit optic nerve phosphorylates glucose through a glucokinase-like enzyme: studies in normal and spontaneously hyperglycemic animals.

We investigated glucose phosphorylation at various concentrations of glucose (1, 5, 10, 25, 50, 100 mmol/liter) in rabbit optic nerve. In the 3000 g supernatant of whole rabbit optic nerve homogenates from female albino rabbits (n = 10, 1.8-2.0 kg body weight, mean +/- SEM morning glycemia: 8.25 +/- 0.29 mmol/liter), the glucose phosphorylating activity (NADP reduction measured as change in optical density at 366 nm at pH 7.5) increased progressively with the increase in glucose concentration (r = 0.89; P < 0.05) and approached the maximum at a very high glucose level (100 mmol/liter), with values (mean +/- SEM) of 8.75 +/- 0.97 nanomol/min/mg protein and 11.57 +/- 1.15 at 1 and 100 mmol/liter glucose, respectively (+32.23%; P < 0.01). At a more alkaline pH (8.2; n = 5, mean +/- SEM morning glycemia: 8.83 +/- 0.07 mmol/liter) glucose phosphorylation was higher than at pH 7.5 and retained the glucose concentration dependence (r = 0.95, P < 0.01). These kinetic characteristics are reminiscent of those of the low-affinity enzyme glucokinase, which is typically present in the liver. By subtracting the activity at 1 mmol/liter glucose from that at higher glucose concentrations, we calculated the "glucokinase component," forms the "total" glucose phosphorylating activity. In five rabbits (of similar age and weight) with spontaneous hyperglycemia (mean +/- SEM: 11.71 +/- 0.60 mmol/liter), the optic nerve glucose phosphorylating activity was lower (value at 1 mmol/liter glucose: 5.42 +/- 1.31, -38.06%, P < 0.05).(ABSTRACT TRUNCATED AT 250 WORDS)

Animals↗
PubMed1993

A glucokinase-like enzyme carries out glucose phosphorylation in capillaries of normal and spontaneously hyperglycemic rabbits.

We have studied glucose phosphorylation at increasing glucose concentrations (1, 5, 10, 25, 50, and 100 mmol/liter) in capillaries of the choroidocapillary lamina from the eye of normal female albino rabbits (n = 10; body wt 1800-2000 g; mean +/- SEM morning glycemia: 147.77 +/- 4.02 mg/dl) and from the eye of spontaneously hyperglycemic rabbits (n = 5, body wt 1800-2000 g, mean +/- SEM morning glycemia; 211.00 +/- 10.76 mg/dl). In the 3000g supernatant of capillary homogenates, the glucose phosphorylating activity (NADP reduction measured as optical density change at 366 nm at pH 7.5) increased progressively with the rise of glucose concentration (r = 0.36; P < 0.05), approaching the peak at high glucose level (25 mmol/liter), with values ranging from 5.32 +/- 0.46 (SEM) nmol/min/mg protein to 7.14 +/- 0.74 (+34.21%, P < 0.01). When measured at a more alkaline pH (8.2) the glucose phosphorylation was higher than at pH 7.5 and retained the responsiveness to increasing glucose concentrations. These kinetic characteristics differ from those seen in most tissues and are somewhat reminiscent of those shown by hepatic glucokinase. Indeed, by subtracting the activity at 1 mmol/liter glucose from that at higher glucose concentrations, we calculated the "glucokinase component" which together with the "hexokinase component" form the total glucose phosphorylating activity. Glucose phosphorylation in capillaries from spontaneously hyperglycemic rabbits was lower than normal (values: 3.66 +/- 0.31 vs 5.32 +/- 0.46 of the normal rabbits; -31.20%; P < 0.05). This could contribute to the hyperglycemia by reducing glucose utilization. However, in these animals the enzyme activity retained the responsivity to increasing glucose concentrations (r = 0.41, P < 0.05). Therefore, the actual capillary glucose phosphorylation in these animals would depend upon both the enzyme level (which is reduced) and the glucose concentration (which is increased). Due to the in vivo inhibition of the hexokinase component, the glucokinase component may be predominant in vivo, making the stimulating effects of hyperglycemia much more pronounced than it would appear from our data in vitro. This may lead to glucose overutilization. These kinetic characteristics of glucose phosphorylation in capillaries might be relevant to the mechanisms leading to diabetic microangiopathy.

Animals↗
PubMed1991

Italian Consensus Conference--overweight, obesity and health.

On 5 and 6 April 1991, at the National Research Council (CNR) in Rome, a Consensus Conference on the relationship between overweight, obesity and health was held. The conference was sponsored by FATMA (Applied Project on Disease Factors of the CNR) and UICO (Italian Society for the Study of Obesity) with the purpose of establishing guidelines for health employees. The development of the conference followed the methodology set down by OMAR to obtain a rational and significant consensus on the answers to six basic questions prepared by the planning committee. The questions were the pivotal point of the conference and were brought to the attention of all the attendees and widely diffused among the medical community; they were proposed with the aim of giving an exhaustive definition of obesity, to investigate its relationship with mortality and morbidity, to highlight its social characterization, to indicate methods of evaluation and recommendations for weight loss, to select groups at risk, and to focus general guidelines for research. After the presentation of the state of the art on 18 topics by experts in the field, the 22 members of the consensus panel, impartial experts from a vast area of the scientific community, discussed a draft document representing the answers to the questions, which was subsequently submitted to the 307 attendees, discussed and then approved. This paper is the definitive document of the Consensus Conference. The introduction explains the reasons which led to the decision to promote the conference six years after the one held in the United States. The methodology is then set out. The questions are answered in the form of recommendations and backed up by data and scientific evidence from the literature.

Body Weight↗
PubMed1990

Capillaries phosphorylate glucose in a concentration-dependent manner through a glucokinase-like enzyme: a study in the eel.

Glucose phosphorylation was studied in a pure capillary preparation obtained from the rete mirabile of the eel swimbladder. In the 3000g supernatant of capillary homogenates, the glucose phosphorylating activity did not reach the maximum at low glucose concentration (1 mmole/liter), as it occurs in most tissues, but increased with the increase in glucose concentration and approached the maximum at very high (300 mmole/liter) glucose levels, with values (mean +/- SEM, n = 10) of 5.85 +/- 0.94 nmole.min-1.mg-1 protein and 19.97 +/- 1.89 at 1 and 300 mmole/liter glucose, respectively. The apparent Km value for glucose was about 50 mmole/liter, i.e., at supraphysiological glucose concentration, like the enzyme glucokinase, typically present in the liver but absent from most other tissues. This new enzyme did not phosphorylate fructose (similar to glucokinase from liver, which is rather specific for glucose) but was not inhibited by N-acetyl-glucosamine (in contrast to hepatic glucokinase). Thus, capillaries phosphorylate glucose in a concentration-dependent manner, which suggests that they are equipped with a glucokinase-like enzyme. This may explain the reported increase in glucose uptake during capillary exposure to high glucose concentrations and would suggest that the hyperglycemia of the diabetic state may be associated with increased glucose utilization, which may play a role in the development of microangiopathy.

Air Sacs↗
PubMed1989

The glucose-6-phosphatase/glucokinase ratio in the liver of obese-diabetic subjects.

The study of G6Pase and GK activities in human liver (needle biopsies) in overnight fasted obese NIDDM patients has shown that, while G6Pase was unchanged, GK was higher (+ 55%, P less than 0.05) than in control subjects. Consequently, the G6Pase/GK ratio (which roughly reflects hepatic glucose production) was significantly reduced (-36%) in the obese diabetic group, due to more GK activity (glucose uptake). This contrasts with the activity in IDDM and nonobese NIDDM patients (where the G6Pase/GK ratio is elevated and normal, respectively) and would suggest that in the obese diabetic subjects, hepatic glucose production is not a major factor contributing to the maintenance of hyperglycemia in the overnight fasting state (leaving peripheral insulin resistance as the major cause of hyperglycemia).

Adult↗
PubMed1989

Extra-pancreatic action of glibenclamide in man: reduction in vitro of the inhibitory effect of glucagon and epinephrine on the hepatic key glycolytic enzymes phosphofructokinase (PFK) and pyruvate kinase (PK).

Human liver slices (surgery biopsies) were preincubated with glucagon or epinephrine for 10 min at 37 degrees C in Krebs-Henseleit solution at pH 7.4, in the absence or presence of glibenclamide, and then homogenized and assayed for phosphofructokinase (PFK) and pyruvate kinase (PK) activity at subsaturating, near physiological, substrate concentrations (suitable for detecting regulatory effects). Preincubation with 10 microM glucagon (n = 7) or 10 microM epinephrine (n = 7) resulted in a reduction of PFK activity of 25% (P less than 0.02) and 29% (P less than 0.05), respectively. Addition of 2 microM glibenclamide in the preincubation mixture reduced the inhibitory effect of glucagon by 99% (P less than 0.05) and that of epinephrine by 70% (P less than 0.01). Likewise, 10 microM glucagon (n = 6) or 10 microM epinephrine (n = 4) reduced PK activity by 40% (P less than 0.01) and 46% (P less than 0.01), respectively. Addition of 2 microM glibenclamide significantly reduced the inhibitory effect of glucagon by 77% (P less than 0.05) and that of epinephrine by 33% (P less than 0.05). In the absence of the hormones, glibenclamide was without effect. Thus, glibenclamide opposes the inhibitory effect of glucagon and epinephrine on two key hepatic glycolytic enzymes. Since the inhibition of key glycolytic enzymes favours gluconeogenesis, the observed action of glibenclamide, if it occurs also in vivo, might reduce the glucagon- and epinephrine-stimulated gluconeogenesis, and could be regarded as an insulin-like action.

Adult↗
PubMed1989

Increased hexokinase/glucose-6-phosphatase ratio in the diabetic kidney as index of glucose overutilization.

In mice with streptozotocin-induced diabetes of 3 days' duration, the hexokinase/glucose-6-phosphatase (HK/G6Pase) ratio in the kidney was enhanced by 52% (mean +/- SEM: 0.40 +/- 0.04 vs. 0.26 +/- 0.03; p less than 0.02) compared to control mice as a result of a 25% increase of HK (16.68 +/- 0.93 vs. 13.31 +/- 1.04 nmol/min/mg protein; p = 0.05) and a 17% decrease of G6Pase (42.51 +/- 2.75 vs. 51.25 +/- 1.89; p less than 0.05). In contrast, as expected, the corresponding ratio (HK + glucokinase/G6Pase) was strikingly reduced in the liver. In 9-day diabetic mice, the kidney enzyme changes were much smaller; however, in a chronic disease such as diabetes, even minimal deviations from the normal may lead to significant metabolic changes with time. The enhanced HK/G6Pase ratio in the diabetic kidney suggests an increase in glucose utilization. This may contribute to the increased synthesis of glycogen, glycoproteins (including basement membrane) and RNA (via provision of ribose-phosphate) occurring in the diabetic kidney and supports the view that the kidney (as opposed to other tissues) shows an 'anabolic response' to diabetes.

Animals↗
PubMed1989

Metabolic effects of high glucose concentrations: inhibition of hepatic pyruvate kinase.

We tested the in vitro effects of various glucose concentrations on the activity of hepatic pyruvate kinase, assayed at subsaturating, near physiological concentration (0.20 mmol/l) of the substrate phosphoenolpyruvate, to detect the "active" form of the enzyme. A 10-min incubation of mouse liver slices (n = 18) with increasing glucose concentrations (5, 10 and 20 mmol/l) resulted in a significant (p less than 0.01), progressive pyruvate kinase inhibition of 15, 28 and 41%, respectively. Similar data were obtained by incubating mouse liver homogenates (n = 7) with glucose, although with this material (which was supplemented with the pyruvate kinase activator fructose-1,6-diphosphate) the inhibition at the highest glucose concentration used was lower (24%, p less than 0.02). Addition of 10 nmol/l insulin during slice incubation (n = 8) prevented by 98% and 69% the inhibition exerted by 10 and 20 mmol/l glucose, respectively. Insulin alone was without effect on the enzyme activity. Glucose might inhibit pyruvate kinase by competing with the activator fructose-1,6-diphosphate. Insulin might overcome the glucose effect by activating pyruvate kinase through the known mechanism of enzyme dephosphorylation. Thus, in decompensated diabetes the high level of blood glucose may contribute, together with the counterregulatory hormones, to inhibit hepatic pyruvate kinase and therefore to stimulate gluconeogenesis.

Animals↗
PubMed1988

Propofol infusion and auditory evoked potentials.

The effects of propofol on auditory evoked potentials (brainstem and middle latency responses) were recorded in six patients. Two different infusion rates were used, 54 and 108 micrograms/kg/minute. Effects on brainstem responses were not found. Regression of amplitude and latency of middle latency auditory potentials were dose related (p less than 0.01).

Adult↗