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Biomedical subjects

D Mazzone

Publications and source records attributed to D Mazzone.

At least 19 recordsLinked to original sources
PubMed2006

Behavioural and temperamental characteristics of children and adolescents suffering from primary headache.

To examine indices of behavioural and emotional problems and temperamental traits in clinically referred children and adolescents suffering from tension headache or migraine. Headache in childhood and adolescence (<18 years) has been associated with the presence of behavioural and emotional difficulties, but limited data are available on the relationship between these problems and different types of headache. Clinically referred children and adolescents (N=114), 6-16 years of age, suffering from primary headache according to the diagnostic criteria of the International Headache Society, 47 with tension-type headache (TH) and 67 with migraine (M), and 36 normal controls without headache (NC) were assessed using the Parent Child Behaviour Checklist (CBCL), Children's Depression Inventory (CDI), Multidimensional Anxiety Scale for Children (MASC), Conner's Parent Rating Scale (CPRS), and Emotionality-Activity-Sociability-Shyness Scale (EAS). Psychological and personality self-rating assessments were obtained also on the children's parents and siblings. Although most headache patients had scores within the normative non-pathological range, both TH and M patients had higher CBCL total, internalizing, and externalizing scores than NC (P<0.001), and TH patients had higher scores than M patients. TH and M had higher CDI and MASC scores than NC (P<0.05), with no difference between the headache groups. TH patients had higher Emotionality and Shyness scores, and lower Sociability scores than M patients. Clinically referred children and adolescents with TH and M had higher scores of behavioural and emotional symptoms, both of internalizing and externalizing type, than normal peers. The TH group had greater psychological and temperamental difficulties than the M group.

Adolescent↗
PubMed2003

[Psychological findings in children with short stature].

AIM: The aim of this study is to evaluate the psychological findings in patients with short stature. METHODS: We studied 19 subjects, 13 males and 6 females, with age range 7-14 years. We evaluated heigth, growth velocity, bone age, target height and growth hormone secretion after provocative stimuli. Psychological evaluation included: Kovacs Scale, Children's Depression Inventory (CDI), Anxiety Scale (Busnelli-Dall'Aglio-Farina); drawing of the human figure (Goodenough Test); Raven Test for neuropsychological performances (P.M. 38 and 47). Statistical analysis was performed using Mann-Whitney U-test. RESULTS: We diagnosed familial short stature (FSS) in 7 patients and growth hormone deficit (GHD) in 12. No statistical difference was found in the anxiety and depression tests, although the score was higher in GHD patients. The human figure drawing and the interview revealed low self-esteem, sense of inadequacy, dependence from parents, social inhibition in all patients. These characteristics were more evident in patients with GHD. Neuropsycho-logical evaluation by Raven test showed normal score in all patients, however subjects with FSS exhibited a higher score than with GHD (p<0.05). CONCLUSIONS: Our data suggest a negative influence of short stature on the affective field of children with short stature; GHD patients exhibited lower neuropsychological performances and more psychological problems than patients with FSS.

Adolescent↗
PubMed1997

Autism and celiac disease: failure to validate the hypothesis that a link might exist.

Autism is a heterogeneous condition and the possible pathogenic role of several different factors has been postulated. Association between celiac disease and neurological manifestations such as drug resistant epilepsy and cerebral calcifications is well known. Some authors in the past also reported the existence of a linkage with autism. On the basis of these observations, we have evaluated 120 patients with celiac disease diagnosed at the Pediatric Clinic of the University of Catania, Italy, in order to identify behavioral problems and autistic features: there were 20 controls for this part of the study. At the same time, AGA and AEMAb were assayed in 11 patients with infantile autism and 11 age- and sex-matched controls. No celiac case was detected among the group of autistic patients and, although two of them had slightly increased levels of AGA IgG and AEMAb, subsequent antibodies determinations and jejunal biopsies gave normal results. Moreover none of the celiac patients had a positive DSM-III-R test for infantile autism.

Autistic Disorder↗
PubMed1997

Double partial trisomy 9q34.1-->qter and 21pter-->q22.11: FISH and clinical findings.

We describe a patient with double trisomy 9q34.1-->qter and 21pter-->q22.1 resulting from 3:1 segregation of a maternal balanced translocation. The patient shows a clinical syndrome similar to that observed in patients with duplication of the chromosome 9q distal region, while no signs of trisomy 21 were observed. The use of high resolution banding and FISH were of fundamental importance for the cytogenetic diagnosis and for definition of the breakpoints on both chromosomes 9 and 21.

Abnormalities, Multiple↗
PubMed1996

Involvement of the white matter in hypomelanosis of Ito (incontinentia pigmenti achromiens).

We report our clinical and neuroradiologic findings in 13 patients affected by hypomelanosis of Ito. Seven patients were boys and six were girls; their ages ranged from 11 months to 16 years. Neurologic signs were present in all but two cases, and they consisted of language disabilities, seizures, hypotonia, mental retardation, and autistic behavior. MRI was performed in all patients. We observed anomalies of the white matter in seven of the 13 patients; all but one of these seven had neurologic signs that included seizures, hypotonia, language disabilities, and mental retardation. The abnormal signals in the white matter were mostly located in the parietal periventricular and subcortical regions of both hemispheres. Moreover, we found asymmetry of the cerebral hemispheres in one of our 13 patients and atrophy of the cerebellar vermis in another patient, with no involvement of the white matter in either. In the remaining four of the 13 patients results of MRI appeared normal. There was a relationship between the anomalies in the central nervous system at MRI, as a whole, and the neurologic manifestations, even though two patients with apparently normal images on MRI had partial and generalized tonic clonic seizures, respectively. A correlation was also found between white matter anomalies and neurologic signs; extended and deep changes in white matter images were associated with more severe neurologic abnormalities and delayed language milestones appeared to be a constant finding in this group of patients. These anomalies of the white matter, which did not progress over time, resembled those seen in other neurocutaneous syndromes. The hypothesis is presented that underlying disarray of cortical lamination or neuronal loss with subsequent wallerian degeneration and altered or delayed myelination could be the cause of the abnormal findings on MRI.

Adolescent↗
PubMed1996

[Modification of some prothrombotic indices after treatment with iloprost in arterial disease patients].

The authors analyse the short-term and medium-term effects of iloprost prostanoid derivate on hemostatic status in a group of patients with obliterating vascular disease of the lower limbs. The study included 10 patients (6 males, 4 females; aged 52 + 5 years old) suffering from Fontaine's stage 3 obstructive arterial disease. After a 10-hour fast each patient received a 6-hour iv infusion of iloprost at a dose of 2 ng/kg/min (approx 50 gamma) a venous blood sample was collected before and after infusion. The test was repeated using the same method after 4 weeks of treatment with the same dose of the drug. The following parameters were analysed in serum: fibrinogen (F) (IL coagulometric method), Factor VII (F VII) (IL coagulometric method), antithrombin II (AT III) (IL chromogenic method), protein C (PC) II coagulometric method) and protein S (PS) (IL coagulometric method). After the first infusion a significant increase was observed in AT III (p > 0.05), whereas other indices showed no significant variations. After treatment for 4 weeks AT III was again enhanced after infusion (p > 0.05); with regard to the basal values of other parameters, a significant reduction (p > 0.05) was found in F VII, whereas no other significant changes were observed. In the light of these results the authors suggest an antithrombotic effect of the drug documented by the short-term increase in AT III probably due to lower consumption, and a medium-term reduction in F VII due to trophic effect of the drug at a vasculoparietal level resulting in the depression of FVII tissue activation factors.

Arterial Occlusive Diseases↗
PubMed1996

[Hemostatic status in subjects with deep venous thrombosis].

The authors report a study on the hemostatic status of a group of patients with deep venous thrombosis in order to highlight the possible pathogenetic responsibility of blood coagulative disorders in the genesis of thrombosis. The group consisted of 27 patients (14 males, 13 females, mean age 48 +/- 4 years) with deep venous thrombosis of the lower limbs (clinical symptoms were primary in 21 cases, secondary in 6 cases) diagnosed on the basis of clinical data and ultrasonographic instrumental findings. Fourteen normal subjects were also examined as a control group (12 males, 2 females, mean age 28 +/- 5 years). Venous blood was collected on fasting from patients and controls to examine the following parameters: fibrinogen (F), factor VII (F VII), antithrombin III (AT III), protein C (PC), protein S (PS) using coagulometric methods (IL), and tissue plasminogen activator (tPA), plasminogen activator inhibitor (PAI-1), fibrinopeptide A (FPA), betathromboglobulin (BTG) and dimer-D (D-D) using ELISA methods (Boehringer). Patients with deep venous thrombosis showed a significant increase in F, FVII, tPA and D-D levels compared to controls, whereas a significant reduction was observed in PAI-1. Nonsignificant variations were found for AT III, PC, PS and BTG. In the light of these results the authors affirm that: high fibrinogen and factor VII levels are highly prognostic for thrombosis in patients with deep venous thrombosis; the importance of the lack of inhibitory factors (AT III, PC, PS) is confined to individual genetically predisposed cases; there is an efficacious hyperfibrinolytic reactive response to the presence of thrombus (increase in tPA and D-D, reduction of PAI-1).

Blood Coagulation↗
PubMed1995

Severe case of Al Awadi/Raas-Rothschild syndrome or new, possibly autosomal recessive facio-skeleto-genital syndrome.

A Sicilian girl whose parents were first cousins had a severe tetramelic limb deficiency (amelia of lower limbs, peromelia of upper limbs) and other defects including cleft lip and palate, facial anomalies, athelia, low umbilicus, bladder exstrophy, no external genitalia, and anteriorly displaced anus. This probably represents a particularly severe case of Al Awadi/Raas-Rothschild syndrome (limb/pelvis-hypoplasia/aplasia syndrome, LPHAS), but the possibility of a new autosomal recessive facio-skeleto-genital syndrome cannot be excluded.

Abnormalities, Multiple↗
PubMed1995

Report of a case of congenital glioblastoma multiforme: an immunohistochemical study.

We report a rare case of congenital glioblastoma multiforme in a 13-day-old male neonate born at term who died from cardiocirculatory failure. The cerebral tumor was diagnosed in vivo by magnetic resonance imaging and confirmed histologically after autopsy. The histological and immunohistochemical features of this case were similar to those reported in the adult.

Brain↗
PubMed1995

[Special aspects of carnitine in the neonatal period].

In view of the importance of L-Carnitine in neonatal metabolism, a study of 100 newborns aged between 33 and 40 weeks of gestation was carried out to determine the normal levels of total carnitine (CT), free carnitine (CL) and carnitine bound to acyl groups (AC), and to investigate any possible relationship between the above fractions and gestational age, type of nutrition and neonatal asphyxia. Suitable diets enriched with L-Carnitine, at a concentration of 1.04 mg/100 ml, included the administration of increasing amounts of milk formulas every 3rd hour, for a total of 7 times/day during the first week of life. Parenteral nutrition was given through an infusion pump during the early 48 hours of life; thereafter, the newborns were fed milk formulas enriched with L-Carnitine. It was observed that CT, CL and AC levels were significantly higher in newborns aged between 33 and 36 weeks of gestation than in older newborns. Nutrition with milk formulas enriched with L-Carnitine induced higher CT, CL and AC levels during the first week of life than on the first day of life. This increase is greater in newborns of more than 36 weeks of gestational age, with a significant difference from newborns of lower gestational age. Asphyxiated newborns showed a significantly higher CL concentration than non-asphyxiated newborns, while their AC values were lower than those found in control groups. In the post-natal period, the administration of milk formulas enriched with L-Carnitine is certainly beneficial for those metabolic processes in which L-Carnitine is involved.

Asphyxia Neonatorum↗
PubMed1995

[Cryptorchidism: current views].

Cryptorchidism is a pathological condition which affects up to 6% of newborns. Main etiopathogenetic hypotheses are the hormonal and the dysgenetic one. Ultrasonography is useful in locating testis in the inguinal canal, while in the management of intraabdominal testis, laparoscopy is considered the best diagnostic technique and, in many cases, can be coupled with surgical management. Medical treatment with LH-RH or with hCG or, better, combined (LH-RH+hCG) is recommended before the second year. Impairment of fertility is a complication mainly in subjects with a history of bilateral cryptorchidism. Undescended testis has a risk of malignant degeneration ranging from 3% to 18% and for this reason some authors suggest a gonadal biopsy after puberty.

Cryptorchidism↗
PubMed1994

Plasma prothrombotic markers after a short- and middle term treatment with iloprost in arteriopathic patients with critical limb ischemia.

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)

Adult↗
PubMed1994

Haemostatic balance in patients with acute focal cerebral vasculopathy.

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)

Acute Disease↗
PubMed1993

Abnormal thyroid function test results in patients with Fisher-Evans syndrome.

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.

Adolescent↗
PubMed1992

[Hemostatic parameters in patients with type IIA and IV hyperlipoproteinemia].

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)

Antithrombin III↗