A national register for surveillance of inherited disorders: beta thalassaemia in the United Kingdom

OBJECTIVE: To demonstrate the value of a national register for surveillance of services for an inherited disorder. METHODS: Data from the United Kingdom Thalassaemia Register and the United Kingdom Register of Prenatal Diagnosis for Haemoglobin Disorders were combined in a database; these registers include all fetuses known to have been diagnosed with beta thalassaemia major, beta thalassaemia intermedia, or haemoglobin E/beta thalassaemia in the United Kingdom. Data were extracted to show outcomes (selective abortion or live birth) of all fetuses and the status of those born with a disorder (alive, dead, successful bone marrow transplant, or lost to follow-up) by parents' region of residence and ethnicity. FINDINGS: At the end of 1999 the register included 1074 patients, 807 of whom were alive and residing in the United Kingdom. A successful bone marrow transplant has been performed for 117 out of 581 (20%) patients born since 1975. Residents of Pakistani origin are now the main group at risk in the United Kingdom, replacing residents of Cypriot origin. This has led to a marked shift in the need for services from the south-east of England to the Midlands and the north of England. Despite the acceptability of prenatal diagnosis, the proportion of affected births remains 50% higher than would be expected, reflecting a widespread failure to deliver timely screening and counselling to carriers. Even though effective treatment is available the annual number of deaths is rising, indicating that better tolerated treatments are needed. CONCLUSION: A national diagnosis register is a powerful instrument for monitoring the treatment and prevention of inherited disorders and for highlighting correctable shortcomings. In view of the increasing possibilities for genetic screening there is a strong case for central funding for such databases within modern health services

Fundamental aspects to localize self-catalyzed III-V nanowires on silicon

III-V semiconductor nanowires deterministically placed on top of silicon electronic platform would open many avenues in silicon-based photonics, quantum technologies and energy harvesting. For this to become a reality, gold-free site-selected growth is necessary. Here, we propose a mechanism which gives a clear route for maximizing the nanowire yield in the self-catalyzed growth fashion. It is widely accepted that growth of nanowires occurs on a layerby-layer basis, starting at the triple-phase line. Contrary to common understanding, we find that vertical growth of nanowires starts at the oxide-substrate line interface, forming a ring-like structure several layers thick. This is granted by optimizing the diameter/height aspect ratio and cylindrical symmetry of holes, which impacts the diffusion flux of the group V element through the well-positioned group III droplet. This work provides clear grounds for realistic integration of III-Vs on silicon and for the organized growth of nanowires in other material systems

Catalytically mediated epitaxy of 3D semiconductors on van der Waals substrates

The formation of well-controlled interfaces between materials of different structure and bonding is a key requirement when developing new devices and functionalities. Of particular importance are epitaxial or low defect density interfaces between two-dimensional materials and three-dimensional semiconductors or metals, where an interfacial structure influences electrical conductivity in field effect and optoelectronic devices, charge transfer for spintronics and catalysis, and proximity-induced superconductivity. Epitaxy and hence well-defined interfacial structure has been demonstrated for several metals on van der Waals-bonded substrates. Semiconductor epitaxy on such substrates has been harder to control, for example during chemical vapor deposition of Si and Ge on graphene. Here, we demonstrate a catalytically mediated heteroepitaxy approach to achieve epitaxial growth of three-dimensional semiconductors such as Ge and Si on van der Waals-bonded materials such as graphene and hexagonal boron nitride. Epitaxy is “transferred” from the substrate to semiconductor nanocrystals via solid metal nanocrystals that readily align on the substrate and catalyze the formation of aligned nuclei of the semiconductor. In situ transmission electron microscopy allows us to elucidate the reaction pathway for this process and to show that solid metal nanocrystals can catalyze semiconductor growth at a significantly lower temperature than direct chemical vapor deposition or deposition mediated by liquid catalyst droplets. We discuss Ge and Si growth as a model system to explore the details of such hetero-interfacing and its applicability to a broader range of materials.This work was supported by the EPSRC (EP/K016636/1 and EP/P005152/1) and ERC (Grant 279342: InSituNANO

An arithmetic regularity lemma, associated counting lemma, and applications

Szemeredi's regularity lemma can be viewed as a rough structure theorem for arbitrary dense graphs, decomposing such graphs into a structured piece (a partition into cells with edge densities), a small error (corresponding to irregular cells), and a uniform piece (the pseudorandom deviations from the edge densities). We establish an arithmetic regularity lemma that similarly decomposes bounded functions f : [N] -> C, into a (well-equidistributed, virtual) -step nilsequence, an error which is small in L^2 and a further error which is miniscule in the Gowers U^{s+1}-norm, where s is a positive integer. We then establish a complementary arithmetic counting lemma that counts arithmetic patterns in the nilsequence component of f. We provide a number of applications of these lemmas: a proof of Szemeredi's theorem on arithmetic progressions, a proof of a conjecture of Bergelson, Host and Kra, and a generalisation of certain results of Gowers and Wolf. Our result is dependent on the inverse conjecture for the Gowers U^{s+1} norm, recently established for general s by the authors and T. Ziegler