Jumping translocation with partial duplications and triplications of chromosomes 7 and 15.

We report a 2-year-old female with seizures, mild dysmorphic features and a jumping translocation involving chromosome 15 that results in multiple cell lines with partial duplications and triplications of chromosomes 7 and 15. Fluorescent in situ hybridization (FISH) and chromosome microdissection were used to identify the complex nature of the jumping translocation. Interstitial telomeres were observed at the jumping translocation sites.

Oral health behaviors in medical patients with diabetes mellitus.

Purpose: Periodontal disease is common among patients with noninsulin dependent diabetes mellitus (NIDDM) and insulin dependent diabetes mellitus (IDDM) and interferes with diabetic control. However, no study has examined predictors of oral health behavior among patients with diabetes in a medical setting. This study describes self-reported oral hygiene among primary care patients with IDDM and NIDDM, evaluating age, race, gender, psychosocial stress, family dysfunction, and other health predictors of preventive oral behaviors.

Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) associated with interstitial deletion of band 3q22: review and gene assignment to the interface of band 3q22.3 and 3q23.

We report on a child with blepharophimosis, ptosis, and epicanthus inversus (BPES), developmental delay and an interstitial deletion of band q22 of chromosome 3. A review of chromosome 3q anomalies associated with eye abnormalities, specifically blepharophimosis and ptosis, strongly suggests that a locus for eyelid development is present at the interface of bands 3q22.3 and 3q23.

Rupture of the liver and right hemidiaphragm presenting as right hemothorax.

A young man hit by a car while riding his motorcycle presented with reversible hypotension, a compression fracture of C6, fractures of the left femur and of ribs 9-12 on the right, and right hemothorax. A falsely negative peritoneal lavage delayed laparotomy, which, when done, demonstrated two right diaphragmatic rents with bleeding into the right chest from a severe liver injury. Presentation of this case demonstrates that while peritoneal lavage is an excellent way to exclude intraperitoneal hemorrhage following blunt abdominal trauma, false-negative results may occur in the setting of hemorrhage with diaphragmatic rupture.