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Biomedical subjects

J F Mantovani

Publications and source records attributed to J F Mantovani.

9 recordsLinked to original sources
PubMed2003

Congenital disorder of glycosylation Ic in patients of Indian origin.

Congenital disorder of glycosylation type Ic (CDG-Ic) is caused by mutations in ALG6, encoding an alpha 1,3-glucosyltransferase. The most frequent mutation found in this gene (C998T resulting in an A333V substitution) has until now been found only in patients of European origin. Here we describe the first occurrence of this CDG-Ic mutation in patients of Indian origin. Of three Indian patients described in this study, patient 1 was homozygous and patient 2 heterozygous for the A333V mutation. In patient 2 we also found a new mutation, IVS3+2_3insT, just 3bp away from the previously described IVS3+5G>A substitution; both mutations resulted in exon 3 skipping. We screened a panel of >350 genomic DNA samples from an ethnically diverse American population to determine the frequency of the A333V mutation. None of the samples carried this mutation, indicating the frequency of patients carrying this homozygous mutation should be <1 in 5x10(5). The discovery of the common CDG-Ic mutation A333V in an Indian population raises questions as to its ethnic origin.

Alleles↗
PubMed1985

Brain dysfunction in an adolescent with the neuromuscular form of hexosaminidase deficiency.

A 14-year-old girl of Ashkenazi Jewish background is described who has severe deficiency of hexosaminidase A. She presented with slowly progressive motor neuron degeneration and was found to have subtle deficiencies on neuropsychological testing, abnormal cortical evoked potentials and structural abnormalities of the cerebellum on CT scan. This patient extends the reported clinical findings for adolescents and suggests the possibility of similar abnormalities in others with neuromuscular deterioration.

Adolescent↗
PubMed1984

'Idiopathic' neonatal cerebral infarction.

Neonatal cerebral infarction is infrequently reported in the living newborn and is usually associated with perinatal risk factors, trauma, and asphyxia. This report describes two cases of full-term newborns with no predisposing problems who had unequivocal left cerebral infarctions associated with seizures in the first 24 hours of life. Radiological studies suggested an embolic cause in one case.

Adult↗
PubMed1980

Porencephaly from periventricular intracerebral hemorrhage in a premature infant.

In two thirds of the premature infants who survived large periventricular intracerebral hemorrhage, a porencephalic cyst developed at the site of parenchymal hemorrhage. The porencephaly seems to develop as a result of local parenchymal destruction by the hemorrhage itself. These cysts can occur in the absence of posthemorrhagic hydrocephalus or increased intracranial pressure. Three of four infants who were observed for at least five months had lateralized motor deficit that corresponded to the cyst.

Brain↗
PubMed1980

Failure of daily lumbar punctures to prevent the development of hydrocephalus following intraventricular hemorrhage.

A prospective study of 48 infants with periventricular-intraventricular hemorrhage was carried out to evaluate the role of daily lumbar punctures, instituted from the time of diagnosis of the hemorrhage, in prevention of posthemorrhagic hydrocephalus and improvement in immediate outcome. The data lead to the following conclusions: (1) minor hemorrhage (Grade I) is associated with minimal risk of death or hydrocephalus; (2) moderate hemorrhage (Grade II) is associated with low risk of death and intermediate risk of hydrocephalus, and serial lumbar punctures do not reduce these risks; and (3) severe hemorrhage (Grade III) is associated with high risks of death or hydrocephalus or both, and serial lumbar punctures also do not reduce these risks.

Brain↗
PubMed1980

Acquired aphasia with convulsive disorder: course and prognosis.

Acquired aphasia with convulsive disorder is an unusual condition in childhood, characterized by loss of language function associated with a paroxysmal electroencephalogram. To determine the course and outcome of this disorder, we evaluated nine patients 10 to 28 years after the onset of aphasia. Four patients had recovered fully, one had mild language dysfunction, and four had moderate language disability. Four of the five patients with the best outcome had decreased visuoperceptive function as measured by the Revised Benton Visual Retention Test (RBVRT), whereas the three tested patients with moderate language dysfunction had normal RBVRT scores.

Adolescent↗