Whole exome sequencing in an Indian family links Coats plus syndrome and dextrocardia with a homozygous novel CTC1 and a rare HES7 variation

Background: Coats plus syndrome is an autosomal recessive, pleiotropic, multisystem disorder characterized by retinal telangiectasia and exudates, intracranial calcification with leukoencephalopathy and brain cysts, osteopenia with predisposition to fractures, bone marrow suppression, gastrointestinal bleeding and portal hypertension. It is caused by compound heterozygous mutations in the CTC1 gene. Case presentation: We encountered a case of an eight-year old boy from an Indian family with manifestations of Coats plus syndrome along with an unusual occurrence of dextrocardia and situs inversus. Targeted resequencing of the CTC1 gene as well as whole exome sequencing (WES) were conducted in this family to identify the causal variations. The identified candidate variations were screened in ethnicity matched healthy controls. The effect of CTC1 variation on telomere length was assessed using Southern blot. A novel homozygous missense mutation c.1451A > C (p.H484P) in exon 9 of the CTC1 gene and a rare 3'UTR known dbSNP variation (c.*556 T > C) in HES7 were identified as the plausible candidates associated with this complex phenotype of Coats plus and dextrocardia. This CTC1 variation was absent in the controls and we also observed a reduced telomere length in the affected individual's DNA, suggesting its likely pathogenic nature. The reported p.H484P mutation is located in the N-terminal 700 amino acid regionthat is important for the binding of CTC1 to ssDNA through its two OB domains. WES data also showed a rare homozygous missense variation in the TEK gene in the affected individual. Both HES7 and TEK are targets of the Notch signaling pathway. Conclusions: This is the first report of a genetically confirmed case of Coats plus syndrome from India. By means of WES, the genetic variations in this family with unique and rare complex phenotype could be traced effectively. We speculate the important role of Notch signaling in this complex phenotypic presentation of Coats plus syndrome and dextrocardia. The present finding will be useful for genetic diagnosis and carrier detection in the family and for other patients with similar disease manifestations.

Lower bounds on Ricci flow invariant curvatures and geometric applications

We consider Ricci flow invariant cones C in the space of curvature operators lying between the cones ``nonnegative Ricci curvature'' and ``nonnegative curvature operator''. Assuming some mild control on the scalar curvature of the Ricci flow, we show that if a solution to the Ricci flow has its curvature operator which satisfies R + epsilon I is an element of C at the initial time, then it satisfies R + epsilon I is an element of C on some time interval depending only on the scalar curvature control. This allows us to link Gromov-Hausdorff convergence and Ricci flow convergence when the limit is smooth and R + I is an element of C along the sequence of initial conditions. Another application is a stability result for manifolds whose curvature operator is almost in C. Finally, we study the case where C is contained in the cone of operators whose sectional curvature is nonnegative. This allows us to weaken the assumptions of the previously mentioned applications. In particular, we construct a Ricci flow for a class of (not too) singular Alexandrov spaces.

NON-COERCIVE RICCI FLOW INVARIANT CURVATURE CONES

This note is a study of nonnegativity conditions on curvature preserved by the Ricci flow. We focus on a specific class of curvature conditions which we call non-coercive: These are the conditions for which nonnegative curvature and vanishing scalar curvature does not imply flatness. We show, in dimensions greater than 4, that if a Ricci flow invariant nonnegativity condition is satisfied by all Einstein curvature operators with nonnegative scalar curvature, then this condition is just the nonnegativity of scalar curvature. As a corollary, we obtain that a Ricci flow invariant curvature condition, which is stronger than a nonnegative scalar curvature, cannot be strictly satisfied by curvature operators (other than multiples of the identity) of compact Einstein symmetric spaces. We also investigate conditions which are satisfied by all conformally flat manifolds with nonnegative scalar curvature.

Asymptotic Bounds on the Power-Delay Tradeoff for Fading Point-to-Point Links From Geometric Bounds on the Stationary Distribution of the Queue Length

The optimal power-delay tradeoff is studied for a time-slotted independently and identically distributed fading point-to-point link, with perfect channel state information at both transmitter and receiver, and with random packet arrivals to the transmitter queue. It is assumed that the transmitter can control the number of packets served by controlling the transmit power in the slot. The optimal tradeoff between average power and average delay is analyzed for stationary and monotone transmitter policies. For such policies, an asymptotic lower bound on the minimum average delay of the packets is obtained, when average transmitter power approaches the minimum average power required for transmitter queue stability. The asymptotic lower bound on the minimum average delay is obtained from geometric upper bounds on the stationary distribution of the queue length. This approach, which uses geometric upper bounds, also leads to an intuitive explanation of the asymptotic behavior of average delay. The asymptotic lower bounds, along with previously known asymptotic upper bounds, are used to identify three new cases where the order of the asymptotic behavior differs from that obtained from a previously considered approximate model, in which the transmit power is a strictly convex function of real valued service batch size for every fade state.

Prediction of Indian rainfall during the summer monsoon season on the basis of links with equatorial Pacific and Indian Ocean climate indices

Interannual variation of Indian summer monsoon rainfall (ISMR) is linked to El Nino-Southern oscillation (ENSO) as well as the Equatorial Indian Ocean oscillation (EQUINOO) with the link with the seasonal value of the ENSO index being stronger than that with the EQUINOO index. We show that the variation of a composite index determined through bivariate analysis, explains 54% of ISMR variance, suggesting a strong dependence of the skill of monsoon prediction on the skill of prediction of ENSO and EQUINOO. We explored the possibility of prediction of the Indian rainfall during the summer monsoon season on the basis of prior values of the indices. We find that such predictions are possible for July-September rainfall on the basis of June indices and for August-September rainfall based on the July indices. This will be a useful input for second and later stage forecasts made after the commencement of the monsoon season.

Exact Phase Retrieval in Principal Shift-Invariant Spaces

We address the problem of phase retrieval from Fourier transform magnitude spectrum for continuous-time signals that lie in a shift-invariant space spanned by integer shifts of a generator kernel. The phase retrieval problem for such signals is formulated as one of reconstructing the combining coefficients in the shift-invariant basis expansion. We develop sufficient conditions on the coefficients and the bases to guarantee exact phase retrieval, by which we mean reconstruction up to a global phase factor. We present a new class of discrete-domain signals that are not necessarily minimum-phase, but allow for exact phase retrieval from their Fourier magnitude spectra. We also establish Hilbert transform relations between log-magnitude and phase spectra for this class of discrete signals. It turns out that the corresponding continuous-domain counterparts need not satisfy a Hilbert transform relation; notwithstanding, the continuous-domain signals can be reconstructed from their Fourier magnitude spectra. We validate the reconstruction guarantees through simulations for some important classes of signals such as bandlimited signals and piecewise-smooth signals. We also present an application of the proposed phase retrieval technique for artifact-free signal reconstruction in frequency-domain optical-coherence tomography (FDOCT).

Coarse-to-fine vision-based localization by indexing scale-invariant features

This paper presents a novel coarse-to-fine global localization approach inspired by object recognition and text retrieval techniques. Harris-Laplace interest points characterized by scale-invariant transformation feature descriptors are used as natural landmarks. They are indexed into two databases: a location vector space model (LVSM) and a location database. The localization process consists of two stages: coarse localization and fine localization. Coarse localization from the LVSM is fast, but not accurate enough, whereas localization from the location database using a voting algorithm is relatively slow, but more accurate. The integration of coarse and fine stages makes fast and reliable localization possible. If necessary, the localization result can be verified by epipolar geometry between the representative view in the database and the view to be localized. In addition, the localization system recovers the position of the camera by essential matrix decomposition. The localization system has been tested in indoor and outdoor environments. The results show that our approach is efficient and reliable. © 2006 IEEE.

Image-based localization and pose recovery using scale invariant features

In this paper, we propose a vision based mobile robot localization strategy. Local scale-invariant features are used as natural landmarks in unstructured and unmodified environment. The local characteristics of the features we use prove to be robust to occlusion and outliers. In addition, the invariance of the features to viewpoint change makes them suitable landmarks for mobile robot localization. Scale-invariant features detected in the first exploration are indexed into a location database. Indexing and voting allow efficient recognition of global localization. The localization result is verified by epipolar geometry between the representative view in database and the view to be localized, thus the probability of false localization will be decreased. The localization system can recover the pose of the camera mounted on the robot by essential matrix decomposition. Then the position of the robot can be computed easily. Both calibrated and un-calibrated cases are discussed and relative position estimation based on calibrated camera turns out to be the better choice. Experimental results show that our approach is effective and reliable in the case of illumination changes, similarity transformations and extraneous features. © 2004 IEEE.

Efficient line launch for bandwidth improvement of 10 Gbit/s multimode fibre links using elliptical Gaussian beam

A novel elliptical Gaussian beam line launch is shown to allow improved system capacity for high speed multimode fibre links. This launch maintains higher bandwidth than dual launch even with misalignment of ±6 μm despite not requiring testing at installation. ©2010 IEEE.

Symmetrical 2-D Hermite-Gaussian square launch for high bit rate transmission in multimode fiber links

A 2-D Hermite-Gaussian square launch is demonstrated to show improved systems capacity over multimode fiber links. It shows a bandwidth improvement over both center and offset launches and exhibits ±5 μm misalignment tolerance. © 2011 Optical Society of America.