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Biomedical subjects

M Di Rocco

Publications and source records attributed to M Di Rocco.

88 records · Page 5Linked to original sources
PubMed1990

Arthrogryposis, cholestatic pigmentary liver disease and renal dysfunction: report of a second family.

We report on a boy, born to consanguineous parents, who had arthrogryposis, cholestatic liver disease, and renal dysfunction. The child died at age 2 months, and autopsy showed pigmentary storage disease in liver cells, nephrocalcinosis, and rarefaction of motor neuron cells in the anterior horns of spinal cord. This association, reported in 1979 by Nezelof et al., is a distinctive syndrome. The possibility of an autosomal recessive or an X-linked inheritance is discussed.

Arthrogryposis↗
PubMed1984

Neutropenia and impaired neutrophil function in glycogenosis type Ib.

The impairment of different neutrophil functions has recently been reported in some patients with glycogenosis Ib and neutropenia. However, no satisfactory explanation for these findings has so far been supplied. In order to investigate this problem, we have studied neutrophil functions (random locomotion and chemotaxis, O-2 release, [1-14C]glucose oxidation and cellular cytotoxicity) in two further patients with glycogenosis Ib and neutropenia. The results show that neutrophil dysfunctions related to the involvement of both hexose monophosphate shunt and anaerobic glycolysis were variable. The heterogeneity of neutrophil functional impairment in glycogenosis Ib and their possible relationship with the basic metabolic defect of the disease are discussed.

Agranulocytosis↗
PubMedDate not supplied

[Use of computer programs in the education and self-management of patients with insulin-dependent diabetes mellitus].

A computerized program for children and adolescents with insulin dependent diabetes mellitus (IDDM) and their parents has been developed. Our program consists of computed assisted education, of aid to routine insulin dosage self adjustment and of records of home and hospital controls. Technically it has been implemented in DBIII plus: it runs on IBM PC computers (and compatible computers) and MS DOS (version 3.0 and later). Computed assisted education consists of 80 multiples choice questions divided in 2 parts: the first concerns basic informations about diabetes while the second one behavioral attitudes of patient in particular situations. Explanations are displayed after every question, apart from correct of incorrect choice. Help for self-adjustment of routine insulin dosage is offered in the third part. Finally daily home urine and/or blood controls and results of hospital admissions are stored in a database.

Adolescent↗
PubMedDate not supplied

Leigh disease: value of CT in presymptomatic patients and variability of the lesions with time.

Three cases of Leigh disease (subacute necrotizing encephalomyelopathy) have been investigated recently in our institute by CT. Bilateral, low attenuation areas were observed in the basal ganglia in all cases. These areas corresponded to the typical necrosis areas seen pathologically in this disease. In our study there were further interesting CT appearances: the peripheral enhancement of low-density zones and the discovery of the lesions before the clear onset of clinical symptoms.

Brain Diseases, Metabolic↗
PubMedDate not supplied

[Fucosidosis: review of personal experience].

Fucosidosis is a rare inherited metabolic disease characterized by severe psycho-motor degeneration. The basic defect is a deficiency of alpha-L-fucosidase which results in neuro-visceral of fucosyl compounds. We observed 7 cases of fucosidosis and an eighth case was diagnosed before birth. This review summarizes the clinical findings, radiological abnormalities and laboratory data which are indispensable for diagnosis. Clinical heterogeneity, incidence in Italian people, and difficulties in detection of carriers and in prenatal diagnosis are also discussed.

Angiokeratoma↗
PubMedDate not supplied

[Clinical heterogeneity in fructose intolerance].

We observed eight infants with hereditary fructose intolerance which had been diagnosed by the fructose tolerance test and an aldolase assay on biopsied liver. None of these had been diagnosed before their admission to our department. The most frequent symptoms were vomiting and failure to thrive. All the patients had hepatomegaly. Laboratory findings were indicative of disturbed hepatic function. Hypoglycemia was found in only 3 out of 8 patients. The course was lethal in 2 patients; the 6 survivors are doing well following a fructose-free diet. The importance of practising paediatricians having the detailed nutritional history of the patient and precise knowledge of infant food formulae is stressed. The danger of using fructose continuing solutions for infusion therapy is pointed out. We also report a case of F-1,6-diphosphatase deficiency.

Carbohydrate Metabolism, Inborn Errors↗
PubMedDate not supplied

[Gaucher's disease. Longitudinal-study in 17 patients in a 10-year period (1970-1980) (author's transl)].

We report follow-up studies of 17 patients with Gaucher disease observed over nearly 10 years. According to the classical subdivision in three clinical forms our cases are: 10 patients with the type 1, chronic, non neuronopathic form; 3 with type 2, acute, neuronopathic form; 4 with type three, subacute, neuronopathic form. Varying degrees of clinical severity and involvement of visceral organs and bones were observed. Possible molecular bases for the heterogeneity of pathology observed are discussed. Two prenatal diagnoses monitored in the same at risk family are reported. Observations of Brady suggesting that enzyme replacement may be useful for treatment of type 1 patients are discussed.

Adolescent↗