Isospin-projected nuclear level densities by the shell model Monte Carlo method

We have developed an efficient isospin projection method in the shell model Monte Carlo approach for isospin-conserving Hamiltonians. For isoscalar observables this projection method has the advantage of being exact sample by sample. The isospin projection method allows us to take into account the proper isospin dependence of the nuclear interaction, thus avoiding a sign problem that such an interaction introduces in unprojected calculations. We apply our method in the calculation of the isospin dependence of level densities in the complete $pf+g_{9/2}$ shell. We find that isospin-dependent corrections to the total level density are particularly important for $N \sim Z$ nuclei.Comment: 5 pages including 4 figure

Identification of a novel TSC2 c.3610G > A, p.G1204R mutation contribute to aberrant splicing in a patient with classical tuberous sclerosis complex: a case report

Background: Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by hamartomas in any organ systems. Mutations in the TSC1 or TSC2 gene lead to the dysfunction of hamartin or tuberin proteins, which cause tuberous sclerosis complex. Case presentation: We describe the clinical characteristics of patients from a Chinese family with tuberous sclerosis complex and analyze the functional consequences of their causal genetic mutations. A novel heterozygous mutation (c.3610G > A) at the last nucleotide of exon 29 in TSC2 was identified. On the protein level, this variant was presumed to be a missense mutation (p.Gly1204Arg). However, the splicing assay revealed that this mutation also leads to the whole TSC2 exon 29 skipping, besides the wild-type transcript. The mutated transcript results in an in-frame deletion of 71 amino acids (p.Gly1133_Thr1203del) and its ratio with the normal splice product is of about 44:56. Conclusions: The novel c.3610G > A TSC2 mutation was identified in association with tuberous sclerosis complex. And it was proven to code both for a missense-carrying transcript (56%), and for an isoform lacking exon 29 (44%)

Familial hypomagnesaemia, Hypercalciuria and Nephrocalcinosis associated with a novel mutation of the highly conserved leucine residue 116 of Claudin 16 in a Chinese patient with a delayed diagnosis: A case report

Background: Sixty mutations of claudin 16 coding gene have been reported in familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) patients. Recent investigations revealed that a highly conserved glycine-leucine-tryptophan (115G-L-W117) motif in the first extracellular segment (ESC1) of claudin 16 might be essential for stabilization of the appropriately folded ECS1 structure and conservation of normal claudin 16 function. However, neither missense nor nonsense mutation has ever been described in this motif. Our study aimed at identifying mutations in a Chinese patient with FHHNC and exploring the association between genotype and phenotype. Case presentation: A 33-year-old female presented with 4 years history of recurrent acute pyelonephritis without other notable past medical history. Her healthy parents, who aged 56 and 53 respectively, were second cousins, and her only sibling died from renal failure without definite cause at age 25. Renal ultrasound imaging demonstrated atrophic kidneys and bilateral nephrocalcinosis. The laboratory workup revealed impaired renal function (Stage CKD IV), hypocalcemia and mild hypomagnesemia, accompanied with marked renal loss of magnesium and hypercalciuria. During the follow-up, treatment with calcitriol and calcium but not with magnesium was difficult to achieve normal serum calcium levels, whereas her serum magnesium concentration fluctuated within normal ranges. In the end, the patient unavoidably reached ESRD at 36 years old. The clinical features and family history suggested the diagnosis of FHHNC. To make a definite diagnosis, we use whole-exome sequencing to identify the disease-causing mutations and Sanger sequencing to confirm the mutation co-segregation in the family. As a result, a novel homozygous mutation (c.346C > G, p.Leu116Val) in115G-L-W117motif of claudin 16 was identified. Her parents, grandmother and one of her cousins carried heterozygous p.Leu116Val, whereas 200 unrelated controls did not carry this mutation. Conclusions: We described a delayed diagnosis patient with FHHNC in the Chinese population and identified a novel missense mutation in the highly conserved115G-L-W117motif of claudin 16 for the first time. According to the reported data and the information deduced from 3D modeling, we speculate that this mutation probably reserve partial residual function which might be related to the slight phenotype of the patient

SEPIA: Search for Proofs Using Inferred Automata

This paper describes SEPIA, a tool for automated proof generation in Coq. SEPIA combines model inference with interactive theorem proving. Existing proof corpora are modelled using state-based models inferred from tactic sequences. These can then be traversed automatically to identify proofs. The SEPIA system is described and its performance evaluated on three Coq datasets. Our results show that SEPIA provides a useful complement to existing automated tactics in Coq.Comment: To appear at 25th International Conference on Automated Deductio

Persistent X-Ray Photoconductivity and Percolation of Metallic Clusters in Charge-Ordered Manganites

Charge-ordered manganites of composition $\rm Pr_{1-x}(Ca_{1-y}Sr_{y})_{x}MnO_3$ exhibit persistent photoconductivity upon exposure to x-rays. This is not always accompanied by a significant increase in the {\it number} of conduction electrons as predicted by conventional models of persistent photoconductivity. An analysis of the x-ray diffraction patterns and current-voltage characteristics shows that x-ray illumination results in a microscopically phase separated state in which charge-ordered insulating regions provide barriers against charge transport between metallic clusters. The dominant effect of x-ray illumination is to enhance the electron {\it mobility} by lowering or removing these barriers. A mechanism based on magnetic degrees of freedom is proposed.Comment: 8 pages, 4 figure

On the optimality of gluing over scales

We show that for every $\alpha > 0$, there exist $n$-point metric spaces (X,d) where every "scale" admits a Euclidean embedding with distortion at most $\alpha$, but the whole space requires distortion at least $\Omega(\sqrt{\alpha \log n})$. This shows that the scale-gluing lemma [Lee, SODA 2005] is tight, and disproves a conjecture stated there. This matching upper bound was known to be tight at both endpoints, i.e. when $\alpha = \Theta(1)$ and $\alpha = \Theta(\log n)$, but nowhere in between. More specifically, we exhibit $n$-point spaces with doubling constant $\lambda$ requiring Euclidean distortion $\Omega(\sqrt{\log \lambda \log n})$, which also shows that the technique of "measured descent" [Krauthgamer, et. al., Geometric and Functional Analysis] is optimal. We extend this to obtain a similar tight result for $L_p$ spaces with $p > 1$.Comment: minor revision

The Expression and Roles of Nde1 and Ndel1 in the Adult Mammalian Central Nervous System

Open Access funded by Wellcome Trust Under a Creative Commons license Acknowledgments We thank Prof Angelo Sementilli, Department of Pathology, Universidade Metropolitana de Santos, SP, Brazil, for the human sample collection. This study is funded by Scottish Universities Life Sciences Alliance (HR07019 to S. Shen and C.D. McCaig), Medical Research Scotland (384 FRG to B. Lang, United Kingdom), Tenovus Scotland (G12/25 to B. Lang), Sino-UK Higher Education Research Partnership for PhD Studies (C.D. McCaig and Y.Q. Ding) and Wellcome Trust (WT081633MA-NCE to P.J.A. McCaffery, United Kingdom).Peer reviewedPublisher PD