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Terminal deletions of the long arm of chromosome X that include the FMR1 gene in female patients: a case series [Case Report]

Yachelevich, Naomi; Gittler, Julia Klein; Klugman, Susan; Feldman, Barbara; Martin, Joanna; Brooks, Susan Sklower; Dobkin, Carl; Nolin, Sarah L
Terminal deletions on the X chromosome in female patients may be detected as part of a work up for infertility, premature ovarian insufficiency (POI) or in screening for fragile X carrier status. We present the clinical, cytogenetic and molecular features of four patients with terminal deletions of chromosome X that include the FMR1 gene, and discuss biological and genetic implications of this deletion. Providers should be aware of possible identification of Xq27 deletions as a potential outcome of fragile X screening.
PMID: 21595002
ISSN: 1552-4825
CID: 170692

Wolf-Hirschhorn syndrome and ectrodactyly: New findings and a review of the literature [Case Report]

Shanske, Alan L; Yachelevich, Naomi; Ala-Kokko, Leena; Leonard, Jay; Levy, Brynn
PMID: 20034099
ISSN: 1552-4825
CID: 170693

No need to tax the sick: clinical guidelines for rofecoxib as an alternative effective method to the copayment policy in the advent of increasing pharmaceutical expenditures

Rosen, Yitzhak; Yachelevich, Naomi; Benedek, Paul; Grotto, Itamar; Goldberg, Avishy; Morad, Yair; Marom, Hadar; Ohana, Nissim; Bar-Dayan, Yaron
BACKGROUND: Over the last few years, major health care systems have been trying to control increasing pharmaceutical expenditures by a variety of methods, such as the controversial copayment policy, as essential health expenditures were being jeopardized. OBJECTIVE: To analyze the regulatory intervention of preauthorization on a rofecoxib model in the medical corps of the Israeli Defense Forces (IDF) in terms of indications for prescription, consumption, and cost. INTERVENTIONS: Guidelines established by the medical services branch based on current literature and communication with diverse specialists and hospitals were implemented by a general practitioner who checked each rofecoxib prescription that was written for IDF personnel by a specialist. The intervention was initiated in November 2000 and continued until August 2001 and after the study. DESIGN: The study was divided into two parts. The first part was a retrospective monthly, preintervention analysis of computerized medical records of IDF personnel (N = 247) for whom rofecoxib was prescribed. The second was a prospective monthly, postintervention analysis of filled-out guideline forms (N = 250) of approved rofecoxib prescriptions. PARTICIPANTS: Patients, were IDF personnel, age 18 to 45, treated in military and civilian outpatient clinics for whom rofecoxib was prescribed. SETTING: The study took place at the Medical Service Branch of the IDF between August 2000 and August 2001. RESULTS: We demonstrated a significant decrease in average monthly consumption (43.0%) and estimated monthly expenditures (40.84%) of rofecoxib, as well as significant shifts (p < 0.001) in indications for whom rofecoxib was approved. These shifts (from pre- to postintervention) include the following: others/nonspecified (80 to 12%), known peptic disorder (7 to 32%), peptic complaints (4 to 22%), and rheumatic (8 to 19%). CONCLUSION: This type of intervention can be cost-effective, can provide quality care, and may be a viable alternative to the controversial and problematic copayment policy.
PMID: 15605945
ISSN: 0026-4075
CID: 170694