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S Domizio

Publications and source records attributed to S Domizio.

31 records · Page 2Linked to original sources

[West syndrome. Clinical, diagnostic and therapeutic aspect].

The authors review the main clinical-electro-encephalographical and therapeutic aspects of the West syndrome (infantile spasms), underlying the problems related to long-term prognosis. The authors describe its clinical variants which, sometimes, can create some difficulties for differential diagnosis. Moreover, the difference between idiopathic and secondary (to pre- and peri-natal) problems syndrome is discussed.

Adrenocorticotropic Hormone↗

Anti-epileptic therapy and behaviour disturbances in children.

In order to evaluate the effects on behaviour of some anti-epileptic drugs, we studied 300 children treated with phenobarbital and other drugs; their age ranged from 3.1 months to 15.9 years. The children were divided into two groups: group A: 197 (116 male and 81 female) children, mean age +/- SD 5.3 +/- 2.8 years, treated with phenobarbital; group B: 103 (66 male and 37 female) children, mean age 6.4 +/- 3.1 years, treated with anti-epileptic drugs other than phenobarbital. In all patients hyperactivity, irritability, disturbances of sleep, and drowsiness were investigated. The parents of patients completed a questionnaire with seven items. In group A, 150 (76.1%) children showed one or more behaviour disturbances, while in Group B a smaller number of patients 32 (31%) had such disorders. There was a significant difference between the two groups (P < 0.0001). The most frequent disorder was hyperactivity. The results of this study suggest that anti-epileptic drugs, in particular phenobarbital, can cause behaviour disturbances.

Anticonvulsants↗

Enamel defects in a case of Menkes' syndrome.

A patient affected by Menkes' syndrome presents some dental abnormalities, such as enamel defects, delayed eruption and a biconically shaped incisor. The deficient action of a cuproenzyme in this syndrome leads us to hypothesize an explanation of defective enamel formation.

Brain Diseases, Metabolic↗

Excessively high magnetic resonance signal in preterm infants and neuropsychobehavioural follow-up at 2 years.

The diffuse excessive high-signal intensity (DEHSI) findings in the T2 weighted scans of white matter (WM), besides the corresponding low signal in the T1 weighted images, are usually more evident around the periventricular regions. It is not clear whether the DEHSI should be considered as a diffuse WM injury rather than a sign of delayed maturation of the WM. Eighty nine preterm infants at the full-term equivalent age (FEA) were studied using conventional Magnetic Resonance (MR) imaging of the brain. Based on the MR findings, the infants studied were divided into three groups: the control group presenting normal WM, the DEHSI group and the group with other WM lesions. Ten newborns were not included in the statistical analysis because they presented evidence of precedent germinal matrix hemorrhage (GMH-IVH) which cannot be considered as WM lesions. Seventy nine infants were enrolled in a program of neuropsychobehavioural study follow-up until 24 months of age. Each infant was evaluated for those variables which mostly affect the occurrence of neuropsychomotor disability. In the DEHSI infant group, significantly lower mean pH and mean base excess (BE) values were found in comparison to controls, while the mean birth weight (BW) was significantly higher. No significant difference was observed between the mean 1st minute Apgar Score, mean birth gestational age (GA) and assisted ventilation mean duration of controls and DEHSI groups. Finally, no significant difference between the parameters studied was found by comparing the WM lesion infants group to the DEHSI infants one. Our observations, together with follow-up studies, even up to school age, confirm that DEHSI has a clinical significance and cannot be considered as a simple indicator of delayed WM maturation.

Brain↗

Glutaric aciduria type II: a case report.

We report a case of a newborn with Glutaric aciduria type II. Pregnancy was complicated by polyhidramnios and fetal bradycardia. Cardiomegaly was detected by fetal echocardiography. The baby was admitted to the Neonatal Intensive Care Unit of Chieti with respiratory distress syndrome immediately after delivery. He showed head and neck edema, micrognathia, paucity of movement, pronounced hypotonia, bilateral cryptorchidism, micropenis, small hands, skin hyperelasticity and joint hypermobility. Serum and urine analysis showed a fatty acid beta-oxidation disorder. He died at 7 days of age for cardiac arrest and autopsy showed marked hepatic and cardiac vacuolisation, lipid storage myopathy and glial cells vacuolisation. Based upon these findings, we speculate that this infant may be suffering from inborn metabolic disease.

Echocardiography↗

A case of Smith-Lemli-Opitz Syndrome, defect of cholesterol biosynthesis.

We report the case of a child with Smith-Lemli-Opitz Syndrome. The pregnancy was complicated by prenatal growth retardation. The baby was admitted to the Neonatal Intensive Care Unit of Chieti when she was five months old. She showed postnatal growth retardation, trouble sucking and swallowing, microcephaly and multiple major and minor malformations, including characteristic facial features and 2-3 syndactyly of the toes. We found correlations between multiple congenital malformations, failure to thrive and low plasmatic cholesterol measurement.

Adult↗

Neonatal eating epilepsy: pathophysiological and pharmacologic aspects.

We report a case of neonatal Eating Epilepsy. The baby was admitted to the Neonatal Intensive Care Unit of Chieti after delivery, with respiratory distress syndrome. In the first day of life the baby had an episode of arterial desaturation and cyanosis with EEG alterations. After laboratory and instrumental investigations we found a correlation between EEG abnormalities and GER. So we administered a combination of anticonvulsive and antacid therapy and, considering the total improvement of EEG, we diagnosed a neonatal form of "eating epilepsy".

Antacids↗

Prevalence of silent prostatic adenocarcinoma in 165 patients undergone cystoprostatectomy: a retrospective study.

The reported prevalence of prostatic adenocarcinoma (PCa) in adults represents only the . The present retrospective study was carried out to estimate the prevalence of the silent PCa in 165 subjects (median age: 69 years; range: 40-82) undergone radical cystoprostatectomy for bladder cancer. To this aim, 38 subjects had routinely prostatic sampling by histology (group A), whereas 127 had systematic pathological sampling of the gland (group B). Silent PCa was diagnosed in 17 subjects (9.7%): 1 subject was in the group A (0.7%) and 16 were in the group B (9%). The data suggest that systematic examination of the prostatic specimens should be performed in order to approach the real prevalence of silent PCa in adult population.

Adenocarcinoma↗

[Electrolytic changes in febrile convulsions].

The authors valued some metabolic parameters (sodium, potassium, calcium, blood levels of glucose, proteins, nitrogen, creatinine) in 159 children with febrile convulsions and compared the results with those of a group of children with fever (50 subjects) and of a group of health, fever free children (50 subjects). In the patients with febrile convulsions serum levels of sodium, calcium and osmolarity resulted significantly lower than those obtained in both control groups. The electrolytic modification (overall hyponatremia, probably due to a SIADH) may have a role in short-term relapses of febrile convulsions. Hyponatremia is present also in some children with high fever, without seizures; it may be that hyponatremia, in predisposed subjects, lower the threshold of neuromuscular excitability.

Calcium↗

[Physical exercise-induced bronchospasm in asthmatic children. Clinical usefulness of the specific free-running bronchial provocation test].

Exercise-induced bronchospasm (E.I.B.) is frequently observed in children. Here are reported the correlation between E.I.B. and some clinical-anamnestical parameters found in a group of thirty-eight asthmatic children examined by exercise. The aspecific bronchial provocation test was performed with six minutes free-running. The exercise-induced bronchospasm was estimated by bronchial obstruction index (b.o.i.). All the children were tested at 4 p.m., out of attacks, without clinical signs of airway obstruction, with basal pick-flow rate (PEFR) at least 80% of predicted. We have looked for the possible correlations between E.I.B. and the following parameters: sex, exercise-induced asthma, house heating, season, period of clinical remission, length of the disease and number of attacks per year. These results indicate that bronchial provocation test with free-running is useful in asthmatic children to objectify the bronchial hyperreactivity and to follow-up the course of the disease.

Adolescent↗

[Bronchiolitis: new pathogenetic aspects and personal cases].

The etiological, epidemiological and pathogenetical features of bronchiolitis and some clinical and biochemical data concerning seventy nine cases were discussed. It has been underlined the possible pathogenetical role of immunoallergic mechanism (immunoreactions type II, III, IV and VI), and of alterations of humoral immunocompetence (rise of IgM and deficit of IgA). Moreover it has been pointed out that hereditary, socioeconomical and environmental factors could play an important role in determining the seriousness of the clinical picture. The relationship between bronchiolitis and the respiratory diseases of the following years have been examinated.

Bronchiolitis, Viral↗