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Biomedical subjects

H Sugie

Publications and source records attributed to H Sugie.

At least 19 recordsLinked to original sources
PubMed2001

A case of MERRF associated with chronic pancreatitis.

We report the first case to our knowledge of chronic pancreatitis associated with mitochondrial encephalopathy with the A8344G mitochondrial DNA (mtDNA) mutation. This 10-year-old-girl had suffered from recurrent abdominal pain with elevated serum amylase and lipase since the age of 6, and easy fatigability, tremor and astatic seizures since the age of 8. A biopsy of quadriceps muscle revealed ragged-red-fibers and cytochrome c oxidase deficiency. Analysis of mtDNA in peripheral blood identified an A8344G mutation in the mitochondrial tRNA(Lys) gene. Taken together with physical signs of myoclonic seizures and cerebellar dysfunction, we diagnosed her as myoclonic epilepsy with ragged-red fibers associated with chronic pancreatitis. Although no association between mitochondrial disease and pancreatitis has yet been established, this case suggests it is necessary to consider the participation of mitochondrial abnormality in the pathogenesis of recurrent pancreatitis.

Brain↗
PubMed2001

[Clinical evaluation of treatment with fluvoxamine, a selective serotonin reuptake inhibitor in children with autistic disorder].

The serotonin system has been implicated in the pathoetiology of autistic disorder. To examine the clinical effects of fluvoxamine, a selective serotonin reuptake inhibitor (SSRI) in children with autistic disorder, eighteen patients underwent a cross-over, double-blind trial of fluvoxamine treatment after a written informed consent was obtained from patients' parents. Fluvoxamine treatment resulted in significant improvements in some clinical findings such as eye contact and language use, as tested by behavioral assessment scores consisting of twenty items (p < 0.05). The improvement in language use was also confirmed by parental assessments. Clinical Global Impression Scale was improved in approximately half of the patients. No severe adverse effect was observed during the trial. Thus SSRI treatment in autistic children may be of value.

Autistic Disorder↗
PubMed2001

[Rett syndrome].

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Female↗
PubMed2000

Phosphoglycerate kinase deficiency: an adult myopathic form with a novel mutation.

The authors report a 36-year-old man with exertional myoglobinuria and muscle cramp without hemolytic anemia or CNS symptoms. They found a deficiency of phosphoglycerate kinase (PGK) activity in muscle and erythrocytes and a 4-base pair deletion in exon 6 of the PGK gene. This mutation may cause a frameshift, yielding an abnormal stop codon in exon 6 by which a truncated PGK protein was produced. This phenotype is caused by a novel mutation of the PGK gene.

Adult↗