Chromosome 2q terminal deletion: report of 6 new patients and review of phenotype-breakpoint correlations in 66 individuals.

We report a new patient with terminal deletion of chromosome 2 with breakpoint at 2q36 and five additional new patients with 2q terminal deletion with breakpoint at 2q37. Hemidiaphragmatic hernia is a novel finding in one patient with a breakpoint at 2q37.1. In comparing these patients to 60 previously reported individuals with 2q terminal deletions, certain physical abnormalities are loosely associated with positions of breakpoint. For example, facial features (e.g., prominent forehead, depressed nasal bridge, and dysmorphic ears and nose), short stature, and short hands and feet were frequent in patients with breakpoints at or proximal to 2q37.3. Reports of horseshoe kidney and Wilms tumor were limited to patients with a breakpoint at 2q37.1, and structural brain anomalies and tracheal anomalies were reported only in patients with breakpoints at or proximal to 2q37.1. Cleft palate was reported only in patients with the most proximal breakpoints (2q36 or 2q35). Neurological effects including developmental delay, mental retardation, autistic-like behavior, and hypotonia were typical in this patient population but did not stratify in severity according to breakpoint. Terminal deletion of the long arm of chromosome 2 should be considered in the infant with marked hypotonia, poor feeding, gastroesophageal reflux, and growth delay, and the older child with developmental delay, autistic behavior, and the characteristic facial and integumentary features described herein. Assignment of clinical features to specific breakpoints and refinement of predictive value may be useful in counseling.

Increasing physician awareness of the common uses and contraindications of herbal medicines: utility of a case-based tutorial for residents.

OBJECTIVES: To determine the need for incorporating herbal medicine into residency curricula and to assess efficacy of a case-based tutorial. DESIGN: Pilot survey of residents' knowledge, practice, and desire to learn about herbal remedies indicated need for instruction. A case-based tutorial was given as a required conference for residents. Participants were pretested, post-tested within 2 weeks, and their satisfaction evaluated. The pretest, tutorial text, and post-test were distributed at clinic to residents who had missed conference. The tutorial was also placed online. SETTINGS/LOCATION: Stony Brook University Hospital and Northport VA Medical Center, affiliates of the State University of New York at Stony Brook, School of Medicine, Stony Brook, NY. They serve a suburban/rural population. SUBJECTS: Eight-two (82) residents were pretested (49 medicine, 7 preventive medicine, 12 family medicine, 10 obstetrics-gynecology, and 4 anesthesia). Sixty-six (66) participated in the tutorial. Residents in the pilot group (n = 12) graduated before the tutorial was given. It was not offered to anesthesia residents (n = 4). Because of scheduling, only 37 tutorial participants were available for post-testing. INTERVENTION: Tutorial on uses, contraindications, and drug interactions of popular herbal medicines was presented as a live session, text-only exercise, and online. RESULTS: Pretest scores revealed a knowledge deficit, room for improvement in doctor-patient dialogue, and demand for instruction on herbal medicine. The mean knowledge score of all post-tested participants (n = 37) rose from 34% to 61% (p < 0.0001). The live lecture group (n = 29) increased from 32% to 63% (p < 0.0001). The text-only group (n = 8) increased from 40% to 55% (p = 0.004). Satisfaction was high. Residents did not access the online tutorial, so it was not evaluated. CONCLUSIONS: Residents request instruction on uses, contraindications, and drug interactions of herbal medicines and should ask patients about use more routinely. A live, case-based tutorial appears effective for introducing herbal medicine into residency curricula.