Familial ring (19) chromosome mosaicism: case report and review

Ring (19) chromosomal mosaicism has been identified in a 14-month-old girl referred for cytogenetic evaluation due to microcephaly and developmental delay with autistic-like mannerisms. An analysis of her peripheral blood lymphocytes showed a 46,XX,r(19) cell line in 119/121 of cells examined. Of the two remaining cells, one had a normal female chromosome complement and the other showed loss of one of the chromosome 19 homologs. Further analysis by fluorescence in situ hybridization using an all human telomere probe showed the presence of a single hybridization signal on the r(19) chromosome. Subsequent cytogenetic characterization of cells derived from the patient's phenotypically normal mother also demonstrated the presence of a ring 19 chromosome in 4/100 cells. The remaining cells had a normal female chromosome complement. These findings represent the first reported case of familial ring 19 mosaicism. The cytogenetic and clinical findings in these two individuals are discussed in relation to six previously reported cases of de novo ring chromosome 19 mosaicism.     

Electro-optical characteristics of indium tin oxide (ITO) films: effect of thermal annealing

The effect of thermal annealing on the electrical and optical characteristics of ITO films prepared by reactive sputtering and thermal evaporation have been studied. The effect of the thermal annealing is to improve the conductivity and the optical transmission in the shorter wavelength region. The conductivity of the films increases with annealing temperature, this behaviour is associated with grain growth in the film.     

Eigenmode analysis of dielectric loaded top-hat monopole antennas

Eigenmode expansions are used for computing the currents on a dielectric loaded top-hat monopole radiating above an infinite conducting ground plane. The approach is facilitated by adding a parallel ground plane above the antenna, thus allowing use of cylindrical harmonic field expansions in each of three regions. Expansion coefficients are found by enforcing boundary and continuity conditions at conducting surfaces and regional interfaces. Convergence and accuracy are assessed using comparisons with three other methodologies, namely an integral equation solution, a quasi-static analysis, and multi-octave experimental measurements     

200°C, 96-nm wavelength range, continuous-wave lasing fromunbonded GaAs MOVPE-grown vertical cavity surface-emitting lasers

We report record temperature and wavelength range attained using MOVPE-grown AlGaAs vertical cavity surface-emitting lasers (VCSEL's). Unbonded continuous-wave lasing is achieved at temperatures up to 200°C from these top-emitting VCSEL's and operation over a 96-nm wavelength regime near 850 nm is also achieved from the same nominal design. Temperature and wavelength insensitive operation is also demonstrated; threshold current is controlled to within a factor of 2 (2.5-5 mA) for a wavelength range exceeding 50 nm and to within ±30% (5-10 mA) for a temperature range of 190°C at 870 nm     

Validation of an inhibition ELISA using a monoclonal antibody for foot-and-mouth disease (FMD) primary diagnosis

An inhibition ELISA (IH-ELISA) test for foot-and-mouth disease virus (FMDV) was validated using 106 epithelial samples from suspected cases of FMD in Argentina submitted to the Argentine National Diagnostics Laboratory (GELAB) over a period of 12 months and examined in parallel with the complement fixation test (CFT). IH-ELISA was found to be more sensitive, detecting 25% (26 samples) more FMDV positives than the CFT in original suspensions of field samples. The effect of storage conditions on 12S stability was examined. Plates stored at 4 degrees C blocked with 1% ovalbumin and plates stored at -20 degrees C with or without blocking buffer could be used for at least 90 days. When various brands of polystyrene plates were compared for 12ps adsorption it was found that those microplates of higher binding capacity were more efficient.     

Potent and selective bicyclic lactam inhibitors of thrombin: Part 2: P1 modifications

The synthesis and antithrombotic activity of a series of nonpeptide bicyclic thrombin inhibitors is described. We have explored the SAR with modifications to the P1 site. The introduction of arginine mimetics at the P1 site led to potent and selective thrombin inhibitors.     

Adaptive functioning following traumatic brain injury and orthopedic injury: a controlled study

BACKGROUND: In an effort to intensify osteosarcoma therapy, systemic ifosfamide was added pre- and postoperatively to an already aggressive three-drug regimen. In a subgroup of patients, loco-regional treatment intensification was attempted by using the intraarterial route to give cisplatin. PATIENTS AND METHODS: Patients < or = 40 years at diagnosis of a localised, de novo high-grade central extremity osteosarcoma were eligible for inclusion into study COSS-86 if registered within three weeks from biopsy. Doxorubicin, high-dose methotrexate, and cisplatin were given to all patients. Patients who fulfilled one or more of three defined high-risk criteria received early systemic treatment intensification by adding ifosfamide as the fourth agent. Preoperatively, these high-risk patients received cisplatin either intraarterially or intravenously. RESULTS: 171 eligible patients were entered, of which 128 were stratified into the high-risk group. When all 171 were analysed by intention-to-treat, actuarial overall and event-free survival rates at ten years were 72% and 66%, respectively. No benefit of intraarterial cisplatin application was detected. Cumulative treatment toxicity was considerable. CONCLUSIONS: In a multicenter setting, intensive treatment of osteosarcoma according to protocol COSS-86 led to long-term disease-free survival for two thirds of patients. We saw no benefit of using the intraarterial route to administer cisplatin.     

Allelotype analysis of uterine leiomyoma: localization of a potential tumor suppressor gene to a 4-cM region of chromosome 7q

The degree and nature of patient involvement in consultations with health professionals influences problem and needs recognition and management, and public accountability. This paper suggests a framework for understanding the scope for patient involvement in such consultations. Patients are defined as co-producers of formal health services, whose potential for involvement in consultations depends on their personal rights, responsibilities and preferences. Patients' rights in consultations are poorly defined and, in the National Health Service (NHS), not legally enforceable. The responsibilities of patients are also undefined. I suggest that these are not to deny, of their own volition, the rights of others, which in consultations necessitate mutuality of involvement through information-exchange and shared decision-making. Preferences should be met insofar as they do not militate against responsibilities and rights.