Unique mosaicism in Prader-Labhart-Willi syndrome—a contiguous gene or aneuploidy syndrome?

A 16-year-old boy with Prader-Labhart-Wi11i syndrome (PLWS) had hypotonia, feeding difficulties, failure to thrive, strabismus and bilateral inguinal hernias with cryptorchidism during infancy followed by hyperphagia, marked early-onset obesity with insulin-dependent diabetes mellitus and necrobiosis lipoidica diabeticorum, short stature, hypogonadotropic hypogonadism and some of the facial characteristics of the individuals with the PLWS. IQ is estimated around 90. Cytogenetic studies showed mosaicism: 45,X, t(Y;15) with partial deletion 15 (15pter → 15ql2); 46,X, t(Y;15), dic(15)(15pter → 15ql2::15ql2 → 15pter) and 47,X,t(Y;15), dic(15), dic(15). The dic(15) was bisatel1ited, NOR-positive on both arms and represented inv dup(15). Thus, the 2 lines with the dic(15) showed partial trisomy 15 (15pter → 15q 12) and partial pentasomy 15 (15pter → 15ql2), respectively. The cell line ratios were different in lymphocyte and fibroblast cultures. The unique cytogenetic findings in this patient, the reports of a variety of chromosome 15 aberrations in PLWS; as well as aberrations of other chromosomes, suggest that the condition is a contiguous gene syndrome rather than an aneuploidy syndrome.     

Perception of breast cancer risk and psychological distress in women attending a surveillance program

Women at high risk of developing breast cancer who attend surveillance programs (SP) overestimate their risk and are highly anxious; those who are anxious are less likely to perform breast self-examination (BSE). We attempted to determine if counseling by a breast surgeon could increase women's accuracy of risk perception and hence decrease their anxiety and increase their likelihood of performing BSE. We also tested the efficacy of a series of four informative newsletters in reducing anxiety. All 145 women who scheduled an initial appointment during one year for our SP were asked to participate; 94 women completed a self-report questionnaire containing validated instruments before their first SP visit. Of these, 41 women were randomly selected to receive the newsletter. Women were mailed follow-up questionnaires at 2 and 4 months after their initial visit. Of the sample, 76% overestimated their risk of developing breast cancer by at least doubling their actual risk as measured with empiric risk tables. Their psychological distress was between 0.5 to 1 standard deviation above normative scores. Being older and having greater confidence in the ability to perform BSE were the only variables that predicted performance of BSE. A follow-up assessment performed 4 months after the initial visit showed a significant improvement in the accuracy of perception of risk (p < 0.01) and a reduction of cancer anxiety (p < 0.05), but no significant change in performance of BSE. The newsletters produced no significant effect. Women attending a breast surveillance program showed a significant improvement in their ability to estimate the risk of developing breast cancer and a reduction in their anxiety after counseling, but no significant change in performance of BSE. The possibility that improvement in risk perception and reduction of cancer anxiety can lead to greater adherence to screening behaviors needs to be tested with a larger number of women and over a longer time period.     

Randomized trial of umbilical arterial catheter position: clinical outcome

In order to determine if umbilical arterial Catheter position affects the incidence of necrotizing enterocolitis, clinical outcome was analysed in 308 infants whose umbilical arterial catheter had been randomly allocated to a high ( n =162) or a low ( n =146) position. Necrotizing enterocolitis was classified as suspected or confirmed; all renal, lower limb and local catheter complications were also recorded. High umbilical arterial catheters were in place for longer than low catheters, provided more samples and were removed as an emergency less often. Lower limb blanching and cyanosis were more common with low catheters. Eleven cases of confirmed necrotizing enterocolitis occurred in the "high" group and nine in the "low" group. One case of fatal aortic thrombosis was encountered in the high group. Positioning umbilical arterial catheters in a high position allowed longer functional use and did not increase the incidence of necrotizing cnterocolitis.     

MRI of occult breast carcinoma in a high-risk population

OBJECTIVE: The purpose of this study was to determine the frequency of cancer and the positive predictive value of biopsy in the first screening round of breast MRI in women at high risk of developing breast cancer. MATERIALS AND METHODS: Retrospective review was performed of the records of 367 consecutive women at high risk of developing breast cancer who had normal findings on mammography and their first breast MRI screening examination during a 2-year period. The frequency of recommending biopsy at the first screening MRI study and the biopsy results were reviewed. RESULTS: Biopsy was recommended in 64 women (17%). Biopsy revealed cancer that was occult on mammography and physical examination in 14 (24%) of 59 women who had biopsy and in 14 (4%) of 367 women who underwent breast MRI screening. Histologic findings in 14 women with cancer were ductal carcinoma in situ in eight (57%) and infiltrating carcinoma in six (43%). The median size of infiltrating carcinoma was 0.4 cm (range, 0.1-1.2 cm). Two patients had nodes that were positive for cancer. Biopsy revealed high-risk lesions (atypical ductal hyperplasia, atypical lobular hyperplasia, lobular carcinoma in situ, or radial scar) in 13 (4%) of 367 women and other benign findings in 32 (9%) of 367 women who had MRI screening. CONCLUSION: Among women at high risk of developing breast cancer, breast MRI led to a recommendation of biopsy in 17%. Cancer was found in 24% of women who underwent biopsy and in 4% of women who had breast MRI screening. More than half the MRI-detected cancers were ductal carcinoma in situ.     

Magnetic Resonance Imaging Detects Unsuspected Disease in Patients With Invasive Lobular Cancer

Background: Predicting the extent of disease in the breasts of patients with invasive lobular cancer (ILC) can be difficult because of the limits of physical examination and standard imaging. We determined the utility of magnetic resonance imaging (MRI) in finding otherwise unsuspected cancer in the ipsilateral or contralateral breast of patients with ILC.Methods: Through database review of all breast MRIs performed between January 1, 1999, and December 30, 2002, we identified patients with newly diagnosed ILC who underwent an MRI for extent-of-disease evaluation or contralateral screening. MRI findings separate from the primary tumor were biopsied and correlated with pathology by using MRI-guided biopsy.Results: Sixty-two patients were identified. In all, 59 ipsilateral and 57 contralateral studies were performed. Suspicious lesions separate from the primary tumor were found by MRI in 38 (61%) of 62 patients. Eight patients were excluded from further analysis (seven elected mastectomy without biopsy; one had an unguided excision). Nineteen of 51 patients with an ipsilateral finding underwent MRI-guided biopsy, which revealed cancer in 11, or 22% of those imaged. Twenty of 53 patients with a contralateral finding underwent MRI-guided biopsy, which revealed cancer in 5, or 9% of those imaged.Conclusions: MRI of the breast identifies unsuspected multicentric or contralateral cancer in patients with ILC. These findings support the use of MRI in selected patients with ILC, particularly in the ipsilateral breast.