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Biomedical subjects

E Sweeney

Publications and source records attributed to E Sweeney.

47 records · Page 3Linked to original sources
PubMed1979

A neutrophil disorder induced by capnocytophaga, a dental micro-organism.

We recovered capnocytophaga, a gram-negative anaerobe implicated in the pathogenesis of periodontal disease, from two patients with a history of dental infections. Neutrophils from both patients failed to acquire the asymmetric shape characteristic of normal neutrophils. Fluorescein staining of the patients' living neutrophils remained diffuse and patchy instead of showing the normal pattern in which the fluorescence is swept into the rear of the cell. The locomotion of one patient's neutrophils in vitro was less than 50 per cent of that of normal neutrophils, and migration of this patient's neutrophils into dermal abrasions was reduced, although phagocytosis and nitroblue tetrazolium reduction were normal. All abnormalities of neutrophil morphology and function disappeared after eradication of the capnocytophaga infections. Sonicates and culture medium of capnocytophaga contained a dialyzable substance that caused normal neutrophils to behave like neutrophils obtained from the infected patients.

Adolescent↗
PubMedDate not supplied

Xp22.3 microdeletion in a 19-year-old girl with clinical features of MLS syndrome.

We describe a 19-year-old girl who has clinical features of microphthalmia with linear skin defects (MLS) syndrome caused by a microdeletion of Xp22.3. In addition to the classical ocular abnormalities and linear skin defects she has other features not previously described. She was previously reported in this journal in 1990 as poikiloderma congenitale, but her true diagnosis of an Xp22.3 microdeletion was clarified when fluorescent in situ hybridization (FISH) analysis indicated that one of her X chromosomes had a microdeletion including the KAL gene. We describe this patient with an Xp22.3 microdeletion to heighten awareness among dermatologists of this syndrome and to underscore the difficulties in diagnosing MLS syndrome.

Abnormalities, Multiple↗
PubMedDate not supplied

Congenital cystic adenomatoid malformation of the lung coexisting with recombinant chromosome 18. A case report.

OBJECTIVE: Diagnosis of congenital cystic adenomatoid malformation of the lung (CCAM) in association with recombinant chromosome 18. METHOD: Ultrasound diagnosis of a CCAM and hydrops was made. The mother was known to have a pericentric inversion of chromosome 18 and had a previous pregnancy with a recombinant chromosome 18 (partial deletion of 18p and partial duplication of 18q). Cordocentesis for karyotype was therefore performed. RESULT: Fetal karyotype revealed a recombinant chromosome 18, this time with partial deletion of 18q and partial duplication of 18p. Postmortem confirmed a type III CCAM and a septum primum atrial defect. CONCLUSIONS: Although deletion/duplication of chromosome 18 is commonly associated with a wide variety of anomalies, the association with CCAM is an unusual one. Fetal and parental karyotyping should be considered in cases of CCAM, because fetal therapy is increasingly being considered in these pregnancies. Current management of parents with pericentric inversions must rely on invasive diagnostic testing in the second trimester because predicting the likelihood of an unbalanced karyotype and phenotype in a fetus is difficult.

Adult↗