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Biomedical subjects

A M Nurchi

Publications and source records attributed to A M Nurchi.

26 records · Page 2Linked to original sources
PubMedDate not supplied

[Cytogenetic and clinical aspects of Prader-Willi syndrome].

Two male nonconsanguineous cases (aged 4 years) of Prader-Willi syndrome are clinically and cytologically studied. Both had obesity, marked hypogonadism, reduced head circumference, psychomotor impairment, hypotonia, tooth decay, small hands and feet, immature EEG. Case 1 showed a "de novo" translocation 7;15 and case 2 showed a normal karyotype. According to various authors, many cases of Prader-Willi syndrome show the presence of a translocation of chromosome 15 onto an autosome or X chromosome. This is the first observation of chromosome 7 involvement in this translocation.

Child↗
PubMedDate not supplied

[Opsoclonic encephalopathy in childhood (Kinsbourne syndrome)].

Kinsbourne's syndrome (ataxia--opsoclonus--myoclonus) is described. The characteristics of this syndrome are: infections of the upper respiratory tract and enteric system and behavioural disturbances leading to the typical symptomatological triad. Various tests were carried out to determine the presence of neuroblastoma which is often associated (46%) to this syndrome. These tests resulted negative. Differential diagnosis was considered in relation to other conditions which present a characteristic symptomatology similar to Kinsbourne's syndrome. Synthetic ACTH (Synacthen) treatment produced a regression of the clinical symptoms. Based on the examinations carried out, which always resulted negative even after 36 months, and on the drug dependence, the present case was diagnosed as primitive opsoclonus.

Ataxia↗
PubMedDate not supplied

[Aspects and behavior of x-ray computed tomographic studies in subacute sclerosing panencephalitis].

The authors reports cerebral Computerized Axial Tomography findings examined, in association with other diagnostic tests, in 5 cases of Subacute Sclerosing Panencephalitis in the acute phase and repeated in 2 of these patients later, during the state and terminal phases of the disease. Hypodensity of the white matter was the main sign of initial cerebral parenchymal involvement and an atrophic aspect was most indicative of the terminal phase. Moreover, it has been shown that associated with clinical symptomatology, immunologic data and EEG signs, cerebral Computerized Axial Tomography may offer the possibility for evaluating the nature and the evolutive stage of the disease and facilitate differential diagnosis from other degenerative encephalopathies.

Child↗
PubMedDate not supplied

[Cutaneous, radiologic and endocrinologic aspects of adrenoleukodystrophy].

A case of adrenoleucodistrophy in a 9 year old boy is reported. At onset, strabismo, skin hyperpigmentation, difficulty in deambulation and retarded writing and language capability were seen. The child's condition rapidly worsened. Normal hemochrome, urine tests, azotemia, blood calcium levels, alkaline phosphate, aminoaciduria and lipidogram values were found. EEG showed diffused slow activity mainly bilaterally at the anterior deviations. TAC revealed hypodense grey matter, especially in the parietal zone, a typical finding in leucodystrophy (Cattarossi e coll., 1981). Cellular biopsy showed modifications of the fibrocells, considered indicative of this condition. The study of the hypothalamic hypophyseal - adrenal - gonadal axis showed a significant increase of LH and RH after stimulation, increased testosterone and androstenedione and reduced basal plasma cortisol, and after stimulation, levels. These findings suggest that hyposurrenalism may be secondary to 21 - hydroxylase deficiency.

Biopsy↗
PubMedDate not supplied

[Psychological aspects of the epileptic child and his relationship to his family environment].

Intellectual development and psychic problems were examined in thirty children, suffering from center - encephalic and focal epilepsy. Two parameters were taken into consideration: social insertion and family adaptation. Intellectual development was evaluated with the Terman-Merril test. At the same time, correlations between the epileptic form, the age of the onset of the seizures and their frequency, the precocity of therapeutic treatment were considered. The intellectual development and the personality were good in 23,7%, when the subjects were enclosed in valid familiar environment and when clinic disappearance of seizures was rapid; these aspects were compromised in 76,3%, when emotively valid family substractum was deficient and therapy was tardily started and barely efficient. On the basis of these data Authors affirm the importance of the precocity of therapy and the emotively valid substratum for preventing the behaviour disturbances in epileptic patients.

Adolescent↗
PubMedDate not supplied

[Children and illness].

The authors examined the psychologic reaction on the behavior of 60 children, of 5 to 14 years, affected by acute or chronic illnesses, talking to them personally, and examining 80 free subject drawings made by the ill children. On the basis of the obtained data it is possible to state that every aspect of the disease acquires for the child a different meaning in connection with their own experience, and the psychic development stage and the emotional atmosphere, surrounding them.

Adolescent↗
PubMedDate not supplied

Congenital hepatic dysplasia from cytomegalovirus.

The Authors report on a case of liver dysplasia in a four-month-old infant affected by prenatal cytomegalovirus infection. Immunologic, histologic and ultrastructural studies suggest an embryopathic origin of the lesions.

Cholestasis, Intrahepatic↗