PubMed Health⌕ Search

Biomedical subjects

J M Pont

Publications and source records attributed to J M Pont.

6 recordsLinked to original sources
PubMed1996

X-linked hydrocephalus masquerading as spina bifida and destructive porencephaly in successive generations in one family.

The authors report a case of X-linked hydrocephalus which presented as a destructive porencephaly. There was asymmetric dilatation of the ventricles of prenatal onset, and neuro-imagining studies were suggestive of infection or haemorrhage. The child was profoundly handicapped but did not have adducted thumbs. Two of his mother's brothers had been stillborn, and postmortem reports revealed that the diagnosis had been isolated hydrocephalus and not spina bifida as reported by the family. Despite serial ultrasound scans, recurrence of X-linked hydrocephalus in the mother's subsequent pregnancy was not detected until 26 weeks gestation, when the ventricles became grossly dilated. The diagnosis was confirmed in this family by identification of mutation within the L1CAM gene.

Diagnosis, Differential↗
PubMed1996

X-linked hydrocephalus masquerading as spina bifida and destructive porencephaly in successive generations in one family.

The authors report a case of X-linked hydrocephalus which presented as a destructive porencephaly. There was asymmetric dilatation of the ventricles of prenatal onset, and neuro-imagining studies were suggestive of infection or haemorrhage. The child was profoundly handicapped but did not have adducted thumbs. Two of his mother's brothers had been stillborn, and postmortem reports revealed that the diagnosis had been isolated hydrocephalus and not spina bifida as reported by the family. Despite serial ultrasound scans, recurrence of X-linked hydrocephalus in the mother's subsequent pregnancy was not detected until 26 weeks gestation, when the ventricles became grossly dilated. The diagnosis was confirmed in this family by identification of a mutation within the LICAM gene.

Brain↗
PubMed1996

Episode treatment groups: an illness classification and episode building system--Part II.

The episode treatment group (ETG) methodology is a case-mix adjustment and episode-building system that uses routinely collected claims data. The resulting 558 clinically homogeneous groups adjust for severity by the presence of complicating conditions, comorbidities, and other characteristics of a patient's condition that affect resource utilization. The groups identify both complete and incomplete episodes in addition to those episodes which, from a cost perspective, are either low or high outliers. As a grouping ¿engine,¿ the user controls the amount and format of the claims data as input, providing essentially unlimited provider profiling, demand analysis, disease management, and capitation and predictive modeling possibilities.

Bronchitis↗