Von Hippel-Lindau syndrome with unusual presentations in two brothers

Two cases are reported of von Hippel-Lindau syndrome in two brothers. One had an asymptomatic adrenal pheochromocytoma (probably bilateral) and a synchronous metastatic hypernephroma which presented as a rather "innocent" renal colic. The second asymptomatic brother underwent urologic investigation which revealed multifocal tumors of the kidney. High clinical suspicion based on family history only is mandatory. The literature related to von Hippel-Lindau syndrome is reviewed.     

Cancer of the colon in an egg donor: policy repercussions for donor recruitment

This paper describes the tragic case of a young woman who died of cancer of the colon after successfully donating eggs to her younger sister. Although there is no direct link between her operation and the subsequent development of bowel carcinoma, this case imparts a feeling of unease when seen in conjunction with other cases reported during the last few years. It is a reminder that little is known of the long-term consequences of some aspects of assisted conception. Women undergoing ovarian stimulation for themselves or a matched recipient have the right to be advised, in an agreed format, that there is some concern about unproven potential risks from the stimulatory drugs. The safety of egg donors must assume priority over all other considerations, including lack of donors or any moral position. The recent decision by the Human Fertilisation and Embryology Authority (HFEA) to withdraw any form of payment or recompense to egg donors does not seem to us to be based on a balance of scientific advances, patient needs and the ethics of gamete supply. They state that the intention to withdraw payments was implicit in the 1990 Human Fertilisation and Embryology (HFE) Act. However the Act was based on the Warnock report made 6 years earlier. Even in 1990 ovum donation was uncommon and fertility drugs had not yet caused any unease. The Act provided the HFEA with discretionary powers to issue directions so that the future policies would be consistent with any emerging new medical evidence. It is imperative that the HFEA provide convincing evidence on how the current policy of payment to donors harms society, donors or recipients, and how in the UK the new policy will improve medical practice in assisted conception. Successful pilot studies must precede the implementation of any new policy. Failure to do this could cause irreversible harm to the practice of assisted conception using donor gametes, which will ultimately be against the basic aims of the 1990 HFE Act.      

Rigiscan versus snap gauge band measurements: is the extra cost justifiable?

Both RigiScan and the Snap Gauge band devices are used to objectively measure penile rigidity. The Snap Gauge band is the more simple and inexpensive of the two techniques. We investigated the correlation between the results obtained by both devices in order to evaluate whether the Snap Gauge band could be employed as the sole method of rigidity evaluation while not affecting the quality of diagnosis. Forty eight patients who were presented to our erectile dysfunction clinic used the two devices simultaneously, each according to the accepted protocols. Breakage of two and three strings of the Snap Gauge (good rigidity) correlated well with good tip and average rigidity as evaluated by the RigiScan. Snap gauge results also correlated with duration of erection, number of erections, the number of adequate erections, and the longest duration of erection measured by the RigiScan. Therefore, good rigidity according to the Snap Gauge test correlated well with the results of functional erections (number, rigidity, duration) as obtained by the RigiScan. The Snap Gauge band can be used to adequately evaluate penile rigidity. RigiScan measurements, which are more complicated and more expensive, should be reserved for selected patients in whom the results of the Snap Gauge band are inconclusive or when more detailed information is required.     

Investigation of three new mouse mammary tumor cell lines as models for transforming growth factor (TGF)-β and Neu pathway signaling studies: identification of a novel model for TGF-β-induced epithelial-to-mesenchymal transition

Introduction  

This report describes the isolation and characterization of three new murine mammary epithelial cell lines derived from mammary tumors from MMTV (mouse mammary tumor virus)/activated Neu + TβRII-AS (transforming growth factor [TGF]-β type II receptor antisense RNA) bigenic mice (BRI-JM01 and BRI-JM05 cell lines) and MMTV/activated Neu transgenic mice (BRI-JM04 cell line).     

"Early-peak" carbon monoxide production in certain erythropoietic disorders

The "early-labeled" peak (ELP) of 14CO excretion following injection of glycine-2-14C was used to study erythropoiesis in a patient with sideroblastic anemia and in four subjects with myeloproliferative disorders. The ELP was greatly enlarged in all patients, as compared with a normal volunteer. The contour of the peaks from the hematologically abnormal subjects suggested the presence of increased erythroid heme degradation. In the patient with sideroblastic anemia, all hours of the early peak were significantly reduced after transfusion. This was interpreted to mean that even the earliest or "nonerythroid" phase of the peak is influenced by erythropoietic activity, at least under conditions of erythropoietic stress.     

Get Up, Get Out, Get Moving: An Interactive Tool for Education at Your Local School

Background

Childhood obesity is a growing problem in America. Orthopaedic surgeons have an opportunity to interact with communities to educate children about healthy eating and physical activity. The American Academy of Orthopedic Surgeons (AAOS) Leadership Fellows Program [1] Class of 2012 created a presentation for AAOS members to bring to local schools. The goal was to teach the children about the potential complications of childhood obesity and the benefits of healthy living.

Questions/purposes

We describe a program in which orthopaedic surgeons gave presentations to elementary school students about healthy eating and activity and the effects that extra weight can have on their bones.

Methods

Each of the five members of the Leadership Fellows Program [1] 2012 class (JW, EM, MP, MR, MF) presented to a school in his or her hometown. The program was presented to 210 fifth grade children throughout the country. Before and after the presentation, students took a six-question multiple-choice quiz and answers compared to assess improvement in knowledge.

Results

The average number of answers correct before the presentation was 4.5 out of six, and the average after the presentation was six of six. The presentations were well received, and the students and their teachers invited each presenter back the next year.

Conclusions

The improvement in quiz scores demonstrated interest among the students in that they paid attention and understood the content. The children appeared enthusiastic to learn about this subject, and the schools were enthusiastic to include the curriculum.     

A Novel Monthly Dosing Regimen of Risedronate for the Treatment of Postmenopausal Osteoporosis: 2-Year Data

This 2-year trial evaluated the efficacy and tolerability of a monthly oral regimen of risedronate. Postmenopausal women with osteoporosis were randomly assigned to double-blind treatment with risedronate 75 mg on 2 consecutive days each month (2CDM) or 5 mg daily. The primary end point was the percentage change from baseline in lumbar spine bone mineral density (BMD) at 12 months. Secondary end points included the change in BMD of the lumbar spine and proximal femur and in bone turnover markers as well as the number of subjects with at least one new vertebral fracture over 24 months. Among 1,229 patients who were randomized and received at least one dose of risedronate, lumbar spine BMD was increased in both treatment groups: mean percentage change from baseline was 4.2 ± 0.19 and 4.3 ± 0.19 % in the 75 mg 2CDM and 5 mg daily groups, respectively, at month 24. The treatment difference was 0.17 (95 % confidence interval ?0.35 to 0.68). There were no statistically significant differences between treatment groups on any secondary efficacy parameters. Both treatment regimens were well tolerated. Risedronate 75 mg 2CDM was noninferior in BMD efficacy and did not show a difference in tolerability compared to 5 mg daily after 24 months of treatment in women with postmenopausal osteoporosis. This monthly regimen may provide a more convenient dosing schedule to some patients with postmenopausal osteoporosis.     

Relationship of Height to Site‐Specific Fracture Risk in Postmenopausal Women

Height has been associated with increased risk of fracture of the neck of femur. However, information on the association of height with fractures at other sites is limited and conflicting. A total of 796,081 postmenopausal women, who reported on health and lifestyle factors including a history of previous fractures and osteoporosis, were followed for 8 years for incident fracture at various sites by record linkage to National Health Service hospital admission data. Adjusted relative risks of fracture at different sites per 10‐cm increase in height were estimated using Cox regression. Numbers with site‐specific fractures were: humerus (3036 cases), radius and/or ulna (1775), wrist (9684), neck of femur (5734), femur (not neck) (713), patella (649), tibia and/or fibula (1811), ankle (5523), and clavicle/spine/rib (2174). The risk of fracture of the neck of femur increased with increasing height (relative risk [RR] = 1.48 per 10‐cm increase, 99% confidence interval [CI] 1.39–1.57) and the proportional increase in risk was significantly greater than for all other fracture sites (p_{heterogeneity} < 0.001). For the other sites, fracture risk also increased with height (RR = 1.15 per 10 cm, CI 1.12–1.18), but there was only very weak evidence of a possible difference in risk between the sites (p_{heterogeneity} = 0.03). In conclusion, taller women are at increased risk of fracture, especially of the neck of femur. © 2015 The Authors. Journal of Bone and Mineral Research published by Wiley Periodicals, Inc. on behalf of American Society for Bone and Mineral Research (ASBMR).