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Medical genetics at a glance
Medical Genetics at a Glance covers the core scientific principles necessary for an understanding of medical genetics and its clinical applications, while also considering the social implications of genetic disorders.
This third edition has been fully updated to include the latest developments in the field, covering the most common genetic anomalies, their diagnosis and management, in clear, concise and revision-friendly sections to complement any health science course.
Medical Genetics at a Glance now has a completely revised structure, to make its content even more accessible. Other features include:
* Three new chapters on Gene Identification, The Biology of Cancer, and Genomic Approaches to Cancer
* A much extended treatment of Biochemical Genetics
* A completely revised chapter on The Cell Cycle, explaining principles of biochemistry and genetics which are fundamental to understanding cancer causation
* Two new chapters on Cardiac Developmental Pathology
* An extended Case Studies section
Providing a broad understanding of one of the most rapidly progressing topics in medicine, Medical Genetics at a Glance is perfect for students of medicine, molecular biology, genetics and genetic counselling, and is a previous winner of a BMA Award.
eBook
Modeling Disability in Long-Term Care Insurance
Long-term care (LTC) costs and, in particular, those arising under an LTC insurance contract, are difficult to estimate. This is because of the complex effects of the processes of aging-disability and cognitive impairment. As disability is a gradual, as opposed to a discrete, process, and as the effects are sometimes reversible, a fairly complex model is necessary to capture its nature. This paper concentrates on modeling the disability process of aging only and, in particular, fully incorporates the recovery process as dictated by the data. With the recovery process modeled, the effect on the estimated model costs of disability of the common simplifying assumption that recoveries can be ignored is easily assessed.
This paper has twin objectives: (1) to present novel methodology, the penalized likelihood, for using interval-censored longitudinal data, such as the National Long-Term Care Study, to parameterize Markov models; and (2) to estimate the costs arising under an LTC insurance contract in respect of disability. The model is also used to show that ignoring recovery from disability can lead to significant overestimation of LTC insurance costs-suggesting that claims underwriting in LTC insurance may be an important factor in managing claims costs.
Journal Article
Addition of Ifosfamide and Etoposide to Standard Chemotherapy for Ewing's Sarcoma and Primitive Neuroectodermal Tumor of Bone
Ewing's sarcoma, a highly malignant tumor of children, adolescents, and young adults, often responds to local excision plus a now-standard four-drug regimen of chemotherapy. This study shows that standard chemotherapy alternating with courses of ifosfamide plus etoposide significantly improves survival in patients with nonmetastatic disease at the time of diagnosis, but not in those with metastatic disease.
Ewing's sarcoma is a highly malignant tumor of bone that occurs in children, adolescents, and young adults. When treated with local control measures only (surgery or radiation therapy), the disease has an extremely high fatality rate.
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The use of adjuvant chemotherapy, which began in the early 1970s, resulted in a marked improvement in the outcome. Since the first Intergroup Ewing's Sarcoma Study demonstrated improved outcomes with the inclusion of doxorubicin, nearly every chemotherapy protocol for Ewing's sarcoma has been based on four drugs: doxorubicin, cyclophosphamide, vincristine, and dactinomycin.
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In the early 1980s, treatment with ifosfamide, with or without etoposide, . . .
Journal Article
A randomised, open-label, cross-over clinical study to evaluate the pharmacokinetic profiles of cigarettes and e-cigarettes with nicotine salt formulations in US adult smokers
E-cigarettes containing ‘nicotine salts’ aim to increase smoker’s satisfaction by improving blood nicotine delivery and other sensory properties. Here, we evaluated the pharmacokinetic profiles and subjective effects of nicotine from two e-cigarette device platforms with varying concentrations of nicotine lactate (nicotine salt) e-liquid relative to conventional cigarettes. A randomised, open-label, cross-over clinical study was conducted in 15 healthy US adult smokers. Five different e-cigarette products were evaluated consecutively on different days after use of own brand conventional cigarette. Plasma nicotine pharmacokinetics, subjective effects, and tolerability were assessed following controlled use of the products. The rate of nicotine absorption into the bloodstream was comparable from all e-cigarettes tested and was as rapid as that for conventional cigarette. However, in all cases, nicotine delivery did not exceed that of the conventional cigarette. The pharmacokinetic profiles of nicotine salt emissions were also dependent upon the properties of the e-cigarette device. Subjective scores were numerically highest after smoking a conventional cigarette followed by the myblu 40-mg nicotine salt formulation. The rise in nicotine blood levels following use of all the tested e-cigarettes was quantified as ‘a little’ to ‘modestly’ satisfying at relieving the desire to smoke. All products were well tolerated with no notable adverse events reported. These results demonstrate that, while delivering less nicotine than a conventional cigarette, the use of nicotine salts in e-cigarettes enables cigarette-like pulmonary delivery of nicotine that reduces desire to smoke.
Journal Article
Demonstration of a Quantum Gate using Electromagnetically Induced Transparency
We demonstrate a native \\(CNOT\\) gate between two individually addressed neutral atoms based on electromagnetically induced transparency (EIT). This protocol utilizes the strong long-range interactions of Rydberg states to enable conditional state transfer on the target qubit when operated in the blockade regime. An advantage of this scheme is it enables implementation of multi-qubit CNOT\\(^k\\) gates using a pulse sequence independent of qubit number, providing a simple gate for efficient implementation of digital quantum algorithms and stabiliser measurements for quantum error correction. We achieve a loss corrected gate fidelity of \\(F_CNOT^cor = 0.82(6)\\), and prepare an entangled Bell state with \\(F_Bell^cor = 0.66(5)\\), limited at present by laser power. We present a number of technical improvements to advance this to a level required for fault-tolerant scaling.
Paper
Malignant Melanoma: Mayo Clinic Experience
To present the Mayo Clinic experience with treatment of melanoma of the trunk and extremities, we reviewed previous Mayo Clinic studies on the management of malignant melanoma and summarized the survival data and treatment-related outcome. A prospective trial involving elective lymph node dissection in 171 patients with malignant melanoma showed no advantage in overall survival and disease-free survival in the group whose nodes were removed. In an assessment of the treatment variables, a Cox stepwise multiple regression analysis showed a strong correlation of lesion thickness and level of invasion with survival. Another study of 535 patients with melanomas that involved the trunk and extremities, who were treated at the Mayo Clinic between 1971 and 1980, showed an overall survival of 83%. Patients with thin lesions (less than 0.76 mm thick) had a 98% 5 - year survival, whereas patients with lesions 4 mm thick or thicker had only a 45% 5-year survival. Because the Mayo Clinic prospective randomized study showed no benefit for patients with melanoma who undergo immediate or delayed lymphadenectomy in the trunk and extremities, we do not perform elective lymph node dissection; however, close follow-up of patients is instituted, and lymph node dissection is performed when nodal involvement is first suspected.
Journal Article
Demonstration of weighted graph optimization on a Rydberg atom array using local light-shifts
Neutral atom arrays have emerged as a versatile platform towards scalable quantum computation and optimization. In this paper we present demonstrations of solving maximum weighted independent set problems on a Rydberg atom array using annealing with local light-shifts. We verify the ability to prepare weighted graphs in 1D and 2D arrays, including embedding a five vertex non-unit disk graph using nine physical qubits and demonstration of a simple crossing gadget. We find common annealing ramps leading to preparation of the target ground state robustly over a substantial range of different graph weightings. This work provides a route to exploring large-scale optimization of non-planar weighted graphs relevant for solving relevant real-world problems.
Paper
Randomized Benchmarking using Non-Destructive Readout in a 2D Atom Array
Neutral atoms are a promising platform for scalable quantum computing, however prior demonstration of high fidelity gates or low-loss readout methods have employed restricted numbers of qubits. Using randomized benchmarking of microwave-driven single-qubit gates, we demonstrate average gate errors of \\(7(2)10^-5\\) on a 225 site atom array using conventional, destructive readout. We further demonstrate a factor of 1.7 suppression of the primary measurement errors via low-loss, non-destructive and state-selective readout on 49 sites whilst achieving gate errors of \\(2(9)10^-4\\).
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