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Biomedical subjects

P Balestri

Publications and source records attributed to P Balestri.

At least 55 records · Page 3Linked to original sources
PubMed1993

Relationship between café-au-lait spots as the only symptom and peripheral neurofibromatosis (NF1): a follow-up study.

We re-examined 21 children with the possible diagnosis of peripheral neurofibromatosis (NF1) based on the presence of café-au-lait (CAL) spots as the single clinical finding. We evaluated whether "typical" or "atypical" appearance of the spots was important for the final diagnosis and whether the co-existence of other non-specific signs (e.g. pectus excavatum) were of any significance for the final diagnosis. In 8/14 (57.1%) cases with "typical" CAL spots, the diagnosis of NF1 was finally established on the basis of other criteria. For the other 6 patients the diagnosis is not yet definitive but highly probable on the basis of the presence of macrocephaly, pectus excavatum and/or MRI findings. Only one patient among five with "atypical" CAL spots possibly has NF1.

Brain Neoplasms↗
PubMed1993

A new case of severe congenital nemaline myopathy.

The case of a neonate with a rapidly fatal course of nemaline myopathy is reported. Neonatal history and clinical findings suggested a postasphyxia syndrome, but dependence on mechanical ventilation in the absence of severe brain damage or evidence of heart and lung involvement prompted us to perform a muscle biopsy. The typical rod-shaped bodies of nemaline myopathy were observed in skeletal and heart muscle which is unusual in infantile forms. Neonatal bone fractures, which have not been reported previously, were detected. Due to the rapid evolution of the neonatal form, many of these patients may die undiagnosed in the perinatal period, the families remaining unaware of the existence of the genetic disorder. Therefore, if severe hypotonia persists in a neonate, together with dependence on assisted breathing, specific examinations, such as muscle enzyme determination, NCV, EMG and if indicated, muscle biopsy should be performed to rule out neuromuscular disease.

Female↗
PubMed1992

Biochemical diagnosis of Canavan disease.

Canavan disease (CD) is a rare autosomal recessive disorder characterized by macrocephaly and progressive leukodystrophy. Up to now biopsy or necropsy were required to define the diagnosis. Recently the disease has been related to N-acetylaspartic aciduria and deficiency of aspartoacylase, an enzyme possibly involved in the myelin synthesis. These biochemical findings have provided a diagnostic marker for the disease. We report a new case of infantile CD in which the demonstration of N-acetylaspartic aciduria and a marked deficiency of aspartoacylase activity confirmed the diagnosis.

Amidohydrolases↗
PubMed1991

Molecular study in von Recklinghausen neurofibromatosis (NF1).

The von Recklinghausen neurofibromatosis (NF1) gene has been mapped to the pericentromeric region of chromosome 17 and various DNA markers have been identified in this region. We have performed a genetic analysis using an anonymous DNA marker, HHH202 (D17S33), tightly linked to the NF1 gene in seven NF1 Italian families. Only one family was fully informative for the HHH202/RsaI polymorphism. In this family this marker can be used for presymptomatic and prenatal diagnosis. However, it is necessary to use additional flanking markers in order to increase informativeness and to obtain better diagnostic accuracy.

Female↗
PubMed1988

Trichothiodystrophy without photosensitivity. Biochemical, ultrastructural and DNA repair studies.

A case of trichothiodystrophy (TTD) without photosensitivity is reported in an 8-year-old girl. Electron microscopic (EM) examination of the keratinocytes showed fibrillary bundles in the cytoplasm thinner and less electron dense than those of the normal cells and large membrane-bound vacuoles filled with granular-filamentous material. These findings could indicate a disturbance in the protein metabolism in tissues of ectodermal origin, explaining also the functional abnormalities of the central nervous system in TTD patients. The results of cellular DNA repair studies after UV irradiation in cultured fibroblasts showed normal levels of unscheduled DNA synthesis. This finding indicates that UV hypersensitivity is not constantly present in TTD.

Amino Acids↗
PubMed1988

Intractable epilepsy: etiology, risk factors and treatment.

The data emerging from our study are the following: the presence of an identifiable cause is important: complications like tuberous sclerosis or signs of marked cerebral damage represent an adverse risk factor for IE. The presence of epilepsy among relatives, evidence of pre- or perinatal cerebral damage, mental retardation, and early onset, long periods of uncontrolled seizures before starting an adequate therapy and frequency of seizures appear to be indicative of an adverse prognosis, since differences between the two groups of responsive or unresponsive patients are statistically significant. On the contrary, the occurrence of febrile convulsions in the past history does not seem to have an adverse prognosis. Temporal lobe epilepsy and IS bear the worst prognosis. ME, CPS, GTCS, SPS, LGS and PM have a progressively better outcome in responsiveness to AEDs. Concerning therapy in patients with IE, studies indicate the results of high dose monotherapy appear to be equal or better than with polypharmacy. Because of the gravity of the situation, trials with unconventional drugs have been performed, but it is too early to draw definite conclusions about the long-term usefulness of most of them. In conclusion, our data indicate that the appearance of an IE can be predicted utilizing the above mentioned criteria, considered either alone or in combination. The issue of IE remains undoubtedly an important one among the group of convulsive disorders. Further studies considering a greater number of patients and new therpeutic strategies are to be recommended.

Anticonvulsants↗
PubMed1987

Free sialic acid storage disease. A new Italian case.

Increased amounts of free sialic acid were found in cultured fibroblasts and urine of a 4-year-7-month-old Italian boy with mental retardation, hypotonia, failure to thrive, coarse facial features, convergent strabismus, pale skin and fair hair. Ultramicroscopic examination of conjunctival and skin tissues showed a number of membrane-bound vacuoles containing low-density granular material in the cytoplasm of the fibroblasts. The clinical, biochemical and ultrastructural findings are similar to those described in Salla disease. Neuraminidase activity is normal. The molecular basis of the sialic acid storage disease is not known. Evidence for defective transport of sialic acid across the lysosomal membrane has been demonstrated in the patient's fibroblasts. It is possible that this might represent the metabolic abnormality.

Carbohydrate Metabolism, Inborn Errors↗
PubMed1985

Giant axonal neuropathy. Endocrinological and histological studies.

A case of giant axonal neuropathy (GAN) in a boy of 4 years and 6 months, is reported. Nerve conduction velocity (NCV), EEG and CT scan indicated both peripheral and central nervous system involvement. Intestinal absorption tests did not reveal vitamin B12 malabsorption; the endocrine situation was found to be substantially normal. The clinical picture was not modified by 18 months cyanocobalamine administration followed by 2 months therapy with prednisone. Electron microscopic (EM) examination revealed longitudinal and opposing grooves (pili canaliculi) in the hair and bundles of neuro-filaments in the myelinated and unmyelinated nerve fibre axons in sural nerve. EM of conjunctiva and skin revealed masses of intermediate-sized filaments within mast cells, fibroblasts, melanocytes, endothelial and Schwann cells. These findings confirm the hypothesis that GAN is a generalised abnormality of cytoplasmic microfilament formation, probably linked to an unknown disorder of protein metabolism.

Axons↗
PubMed1985

Human erythrocyte hexokinase deficiency: a new variant with abnormal kinetic properties.

A 14-month-old child who had a haemolytic episode when he was 5 years old, and with psychomotor retardation, was found to have decreased red cell hexokinase activity. The mutant enzyme was characterized by an increased affinity for glucose associated with an increased inhibition constant for glucose-1,6-diphosphate. Affinity for Mg ATP2-, heat stability and pH-optimum were normal. The isozymic pattern of the red cell enzyme was normal but all the molecular forms were present in reduced amounts. The kinetics of decay of hexokinase during cell ageing was also normal. Glucose consumption of the hexokinase deficient cells was 60-65% of the controls while the amount metabolized through the hexose monophosphate shunt was unchanged. Red cell 2,3-diphosphoglycerate and glucose-6-phosphate levels were normal in the proband but reduced in the erythrocytes of his parents, who were heterozygous for the defect but had normal haematological data. Comparison with the 13 previously reported cases of hexokinase deficiency confirms the broad phenotypic variability that characterizes this disorder.

Blood Glucose↗
PubMed1984

Infantile spasms--long term results of ACTH treatment.

From a series of 230 subjects with infantile spasms (I.S.) observed from 1955 to 1982, 191 cases with sufficient data on follow-up and evaluation were selected. The period of follow-up in 100 subjects ranged from 3 months to 3 years and was more than 3 years in the remaining 91 patients. Disappearance of spasms and normal psychomotor development was observed in 34 of the 61 idiopathic and post-infectious cases. In 130 subjects with secondary forms normal psychomotor development was observed in only two patients; disappearance of spasms was noted in 54 and normalisation of the EEG in 13 subjects. Satisfactory long term results can be obtained with a relatively low dose of corticotropin in a considerable number of patients having idiopathic and post-infectious forms of I.S. To obtain the best results treatment should be started as soon as possible.

Adrenocorticotropic Hormone↗
PubMedDate not supplied

Progressive cerebral calcifications, epilepsy, and celiac disease.

A case with progressive cerebral calcifications, white matter involvement, and drug-resistant epilepsy in a 9-year-old boy is described. The final diagnosis was celiac disease (CD). The relationship of CD with epileptogenic lesions is considered, and the possible significance of this association is discussed.

Brain Diseases↗