Characterization of melanocyte stimulating hormone receptor variant alleles in twins with red hair

The association between MSHR coding region variation and hair colour in humans has been examined by genotyping 25 red haired and 62 non-red Caucasians, all of whom were 12 years of age and members of a twin pair study. Twelve amino acid substitutions were seen at 11 different sites, nine of these being newly described MSHR variants. The previously reported Val92Met allele shows no association with hair colour, but the three alleles Arg151Cys, Arg160Trp and Asp294His were associated with red hair and one Val60Leu variant was most frequent in fair/blonde and light brown hair colours. Variant MSHR genotypes are associated with lighter skin types and red hair (P < 0.001). However, comparison of the MSHR genotypes in dizygotic twin pairs discordant for red hair colour indicates that the MSHR gene cannot be solely responsible for the red hair phenotype, since five of 13 pairs tested had both haplotypes identical by state (with three of the five having both identical by descent). Rather, it is likely that additional modifier genes exist, making variance in the MSHR gene necessary but not always sufficient, for red hair production.      

Novel translocation of the BCL10 gene in a case of mucosa associated lymphoid tissue lymphoma

Interest has focused on a recently identified gene, BCL10, thought to play an important role in the genesis of extranodal, marginal zone (MALT) lymphomas. This gene belongs to a family containing caspase recruitment domains (CARD), that are involved in the apoptotic pathway. Translocations of the BCL10 gene to the immunoglobulin heavy chain locus at 14q32 have been described. We report herein a case of MALT lymphoma showing t(1; 2)(p22; p12). The translocation was shown to involve the BCL10 gene and the immunoglobulin kappa light chain locus by fluorescence in situ hybridization.     

Quantitative determination of anti-dsDNA antibodies and antibody/dsDNA stoichiometries in prepared,soluble complement-fixing antibody/dsDNA immune complexes

We have investigated quantitatively the complement-mediated binding of prepared, soluble ¹²⁵I-7S IgG antibody/³H-dsDNA immune complexes to human red blood cells (RBCs). We have performed these studies by using a detailed modification of the RBC-CF assay [Pedersen et al., J. Immun. Meth. 38, 2692–2280 (1980)] which now allows for the simultaneous measurement of both ³H-DNA and ¹²⁵I-binding to the cells. Our results indicate that, in the case of three SLE patients, their anti-dsDNA antibody titers are sufficiently high that a small fraction of their ¹²⁵I-7S IgG antibodies (ca 0.1–0.2%) can be identified as specifically anti-dsDNA. We have also used an indirect method (with ¹²⁵I-labelled rabbit anti-human IgG) for the determination of IgG anti-dsDNA antibodies in complement-fixing antibody/dsDNA immune complexes that bind to RBCs, and the results of these measurements are in reasonable agreement with the direct binding experiments. These studies have also allowed us to estimate the antibody/DNA stoichiometries in complement-fixing immune complexes. The results of these experiments may provide a useful standard for the analysis of monoclonal anti-dsDNA antibodies.     

Ascertaining women's preferred mode of address and preferred choice of title during pregnancy and childbirth

To determine how women in pregnancy would like to be addressed and to ascertain their preferred choice of title during pregnancy. A questionnaire was administered to 925 antenatal women. Midwifery and medical staff (183) were invited to respond to a similar questionnaire. The response rate was 71.2% from the survey of pregnant women. The vast majority (82.1%) preferred to be addressed by their first name. Women were in favour of being called 'patient' (32.8%) as their first choice. The staff survey yielded a response rate of 77%. The majority (81.8%) of health professionals preferred to address women by their first name. 'Mother' (28.7%) was the most popular first choice. We conclude that women in pregnancy do have a preference on how they would like to be addressed and this is predominantly by first name. Health professionals also prefer to call pregnant women by their first name. The term 'patient' was the most popular first choice of title of women in pregnancy but the term 'mother' was the preferred choice of the health professionals. Medical staff were more likely to choose 'patient' than midwives.     

The oral neurokinin-1 antagonist aprepitant for the prevention of chemotherapy-induced nausea and vomiting: a multinational, randomized, double-blind, placebo-controlled trial in patients receiving high-dose cisplatin--the Aprepitant Protocol 052 Study Group.

PURPOSE: In early clinical trials with patients receiving highly emetogenic chemotherapy, the neurokinin antagonist aprepitant significantly enhanced the efficacy of a standard antiemetic regimen consisting of a type-three 5-hydroxytryptamine antagonist and a corticosteroid. This multicenter, randomized, double-blind, placebo-controlled phase III study was performed to establish definitively the superiority of the aprepitant regimen versus standard therapy in the prevention of chemotherapy-induced nausea and vomiting (CINV). PATIENTS AND METHODS: Patients receiving cisplatin > or = 70 mg/m2 for the first time were given either standard therapy (ondansetron and dexamethasone on day 1; dexamethasone on days 2 to 4) or an aprepitant regimen (aprepitant plus ondansetron and dexamethasone on day 1; aprepitant and dexamethasone on days 2 to 3; dexamethasone on day 4). Patients recorded nausea and vomiting episodes in a diary. The primary end point was complete response (no emesis and no rescue therapy) on days 1 to 5 postcisplatin, analyzed by a modified intent-to-treat approach. Treatment comparisons were made using logistic regression models. Tolerability was assessed by reported adverse events and physical and laboratory assessments. RESULTS: The percentage of patients with complete response on days 1 to 5 was significantly higher in the aprepitant group (72.7% [n = 260] v 52.3% in the standard therapy group [n = 260]), as were the percentages on day 1, and especially on days 2 to 5 (P <.001 for all three comparisons). CONCLUSION: Compared with standard dual therapy, addition of aprepitant was generally well tolerated and provided consistently superior protection against CINV in patients receiving highly emetogenic cisplatin-based chemotherapy.     

Quantitative description of the far-lateral transcondylar transtubercular approach to the foramen magnum and clivus

OBJECT: The purpose of this study was to evaluate the far-lateral transcondylar transtubercular approach (complete FLA) based on quantitative measurements of the exposure of the foramen magnum and petroclival area obtained after each successive step of this approach. METHODS: The complete FLA was reproduced in eight specially prepared cadaveric heads (a total of 15 sides). The approach was divided into six steps: 1) C-1 hemilaminectomy and suboccipital craniectomy with unroofing of the sigmoid sinus (basic FLA); 2) partial resection of the occipital condyle (up to the hypoglossal canal); 3) removal of the jugular tuberculum; 4) mastoidectomy (limited to the labyrinth and the fallopian canal) and retraction of the sigmoid sinus; 5) resection of the lateral mass of C-1 with mobilization of the vertebral artery; and 6) resection of the remaining portion of the occipital condyle. After each successive step, a standard set of measurements was obtained using a frameless stereotactic device. The measurements were used to estimate two parameters: the size of the exposed petroclival area and the size of a spatial cone directed toward the anterior rim of the foramen magnum, which depicts the amount of surgical freedom available for manipulation of instruments. The initial basic FLA provided exposure of only 21 +/- 6% of the petroclival area that was exposed with the full, six-step maximally aggressive (complete) FLA. Likewise, only 18 +/- 9% of the final surgical freedom was obtained after the basic FLA was performed. Each subsequent step of the approach increased both petroclival exposure and surgical freedom. The most dramatic increase in petroclival exposure was noted after removal of the jugular tuberculum (71 +/- 12% of final exposure), whereas the least improvement in exposure occurred after the final step, which consisted of total condyle resection. CONCLUSIONS: The complete FLA provides wide and sufficient exposure of the foramen magnum and lower to middle clivus. The complete FLA consists of several steps, each of which contributes to increasing petroclival exposure and surgical freedom. However, the FLA may be limited to the less aggressive steps, while still achieving significant exposure and surgical freedom. The choice of complete or basic FLA thus depends on the underlying pathological condition and the degree of exposure required for effective surgical treatment.