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Biomedical subjects

M Bianca

Publications and source records attributed to M Bianca.

8 recordsLinked to original sources
PubMed2005

A new deletion in autosomal dominant guanosine triphosphate cyclohydrolase I deficiency gene--Segawa disease.

Hereditary Progressive Dystonia with marked diurnal fluctuation (HPD) is an autosomally dominantly inherited dystonia which is characterized by marked diurnal fluctuation of symptoms and by marked and sustained response to levodopa associated with mutations in guanosine triphosphate cyclohydrolase (GCH-1) deficiency gene. We report an italian patient with a new 18 bp deletion at 267 in exon 1 in the GCH-1 gene. The peculiarity of our patient is the new mutations never reported and mnemonic disturbances that are also not reported in the classical HPD.A genotype-phenotype relationship may be suggested between different gene mutations and non classical clinical manifestations.

Adult↗
PubMed2002

The role of maternal reproductive history in the aetiology of neural tube defects.

The contribution of environmental factors to the aetiology of neural tube defects (NTD) has been stressed over recent years and many different risk factors have been proposed. We evaluated the reproductive history of 113 NTD cases to investigate the possible role of maternal age, gestational age, sex, parity and previous pregnancy. Our results show that parity and previous spontaneous abortion can be considered as risk factors for NTD and that an accurate evaluation of reproductive history can be useful for genetic counselling. The known benefits of periconceptional intervention in reducing the incidence of NTD in high risk populations, together with our results, means that mothers with a positive reproductive history for spontaneous abortion and for multiparity are ideal subjects for folic acid periconceptional management.

Abortion, Spontaneous↗
PubMedDate not supplied

Down syndrome.

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Down Syndrome↗
PubMedDate not supplied

[Gilles de la Tourette's syndrome: a systematic review].

Gilles de la Tourette's syndrome is more frequent than once believed. This syndrome is a chronic disorder whose long term outcome is generally favourable, characterized by a fluctuating course. The etiopathogenesis of Gilles de la Tourette's syndrome has not been ascertained, although the frontal-subcortical neural pathways seem to be involved. This extrapyramidal syndrome is frequently associated with attention-deficit/hyperactivity disorder, obsessive-compulsive disorder, and behaviour problems. A correct diagnosis is the first step for a proper management of this disorder, which makes use of behavioural and pharmacological interventions.

Humans↗