Correlated Phases of Population Imbalanced Fermi-Fermi Mixtures on an Optical Lattice

We study a two species fermion mixture with different populations on a square lattice modeled by a Hubbard Hamiltonian with on-site inter-species repulsive interaction. Such a model can be realized in a cold atom system with fermionic atoms in two different hyperfine states loaded on an optical lattice and with tunable inter-species interaction strength via external fields. For a two-dimensional square lattice, when at least one of the fermion species is close to half-filling, the system is highly affected by lattice effects. With the majority species near half-filling and varying densities for the minority species, we find that several correlated phases emerge as the ground state, including a spin density wave state, a charge density wave state with stripe structure, and various p-wave BCS pairing states for both species. We study this system using a functional renormalization group method, determine its phase diagram at weak coupling, discuss the origin and characteristics of each phase, and provide estimates for the critical temperatures.Comment: 5 pages, 4 figures, figures update

OR15-5 Human Sex Determination at the Edge of Ambiguity: Impaired SRY Phosphorylation Attenuates Expression of the Male Program

A paradox is posed by metazoan gene-regulatory networks (GRNs) that are robust yet evolvable. Insight may be obtained through studies of bistable genetic circuits mediating developmental decisions. A model in organogenesis is provided by the sex-specific differentiation of the embryonic gonadal ridge to form a testis or ovary. Here, we investigated a Swyer mutation in human testis-determining factor SRY that impairs its phosphorylation in association with variable developmental outcomes: fertile male, intersex, or infertile female (46, XY pure gonadal dysgenesis). The mutation (R30I) abrogates serine phosphorylation within a putative target site for protein kinase A (PKA) N-terminal to the HMG box. Diverse processes can be regulated by protein phosphorylation, including DNA recognition by transcription factors (TFs). Phosphorylation of this site in human SRY (LRRSSSFLCT; italics) in vitro was previously shown to enhance specific DNA affinity. Biological consequences of the mutation were evaluated in SRY-responsive mammalian cell lines following transient transfection. The mutation attenuated in concert occupancy of a target enhancer (TESCO) and SOX9 transcriptional activation. These perturbations were mitigated by acidic substitution (LRIDDDFL) whereas Ala substitutions (RRAAAFL or RIAAAFL) attenuated activity to an extent similar to R30I alone. No differences were observed in nuclear localization. Mutagenesis suggested that the central Ser is most efficiently phosphorylated in accord with PKA targeting rules. Replacement of the native site by an optimized “Kemptide” PKA site (LRRASLGCT) enhanced both SRY phosphorylation and SOX9 transcriptional activation whereas a “swapped” protein-kinase C determinant (LRRSSFRRCT) blocked phosphorylation. Among SRY variants, extent of cellular phosphorylation mirrored relative in vitro efficiencies of synthetic SRY-derived peptides as PKA-specific substrates. Although several kinases are predicted in silico to target this tri-serine motif, cell-based studies implicate PKA as the relevant kinase in vivo. Our results provide evidence that primate Sry requires its phosphorylation for full gene-regulatory activity. A PKA site N-terminal to the SRY HMG box, unique to primates, exemplifies network “tinkering” through recruitment of a new regulatory linkage. Molecular characterization of the R30I inherited Swyer mutation in SRY thus demonstrates that impaired TF phosphorylation can attenuate a human developmental switch at the edge of ambiguity

d_{xy}-Density wave in fermion-fermion cold atom mixtures

We study density wave instabilities in a doubly-degenerate Fermi-Fermi mixture with $SU(2)\times SU(2)$ symmetry on a square lattice. For sufficiently large on-site inter-species repulsion, when the two species of fermions are both at half-filling, two conventional ($s$-wave) number density waves are formed with a $\pi$-phase difference between them to minimize the inter-species repulsion. Upon moving one species away from half-filling, an unconventional density wave with $d_{xy}$-wave symmetry emerges. When both species are away from the vicinity of half-filling, superconducting instabilities dominate. We present results of a functional renormalization-group calculation that maps out the phase diagram at weak couplings. Also, we provide a simple explanation for the emergence of the $d_{xy}$-density wave phase based on a four-patch model. We find a robust and general mechanism for $d_{xy}$-density-wave formation that is related to the shape and size of the Fermi surfaces. The density imbalance between the two species of fermions in the vicinity of half-filling leads to phase-space discrepancy for different inter-species Umklapp couplings. Using a phase space argument for leading corrections in the one-loop renormalization group approach to fermions, we show that the phase-space discrepancy in our system causes opposite flows for the two leading intra-species Umklapp couplings and that this triggers the $d_{xy}$-density-wave instability.Comment: revised long version; 8 pages, 7 figure

The Effects of Survival Predictors Before Hemodialysis Initiation is Different in Adults and the Elderly

SummaryBackgroundThe aim of this study is to investigate the effects of the risk markers of sex, education, marital status, nephrology referral, and progression of comorbid conditions before hemodialysis (HD) on the survival of incident HD patients in different age groups.MethodsA total of 7729 incident HD patients were recruited in this retrospective cohort study in 2006 and followed up to the end of 2007. Patients were divided according to their age, being classified as Adult (18–64 years), Young Elderly (65–74 years), or Old Elderly ≥ 75 years. The progressive Romano-Charlson Comorbidity Index (CCIp) was used to predict survival outcomes, CCIp = CCI−1–CCI−3, where CCI−1 and CCI−3 are the CCI scores in the 1st year and 3rd year before HD initiation, respectively. The Cox regression model was used to analyze the associated factors of survival.ResultsMale patients were found to have a higher risk of mortality than females in each age group. Education ≤ 6 years was an independent risk marker for mortality in the Adult group. The effect of marital status and early nephrology referral on survival was more significant in the elderly groups. The CCIp and CCI-3 ≥ 3 were independent risk markers for mortality in each group. The CCIp was a more valuable predictor of survival in adults than in elderly HD patients.ConclusionThe effects of sex, education, marital status, early nephrology referral, and severity of CCI-3 and CCIp before HD initiation on patient survival vary in different age groups

A Cloud Information Platform for 3D Printing Rehabilitation Devices

Due to the problems of current population aging, occupational injuries and traffic accidents have led to an increasing number of elder people who are physically disabled in Taiwan. These persons, mostly seek medical treatment from medical institutions to help restore them to their premorbid level. Therefore the number of patients who go to medical institutions is gradually increasing and the splinting is largely applied in the medical cares. 3D printing technology has been widely used in the medical industry in recent years, especially in the development of rehabilitation devices. Up until now, to produce the customized splint requires either face to face communication or messaging software by relevant parties. Due to the complexity of the medical process, it is often time-consuming for occupational therapists to discuss the medical records with the splint design engineers via the above mentioned means. The other difficulty is that data management becomes a real problem. Medical communication and information management are thus the most urgent issues that need to be investigated. In this study, we applied the information technology and cloud-based technology to design a simple and user-friendly web-based interface for making 3D printing splint. This web-based interface utilizes cloud-based technology to provide an information platform for communication and co-management between the relevant stakeholders. The aim of this study is to make system management, retrieving patients’ information and browsing 3D graphics be more convenient for users, and thus to improve the efficiency and effectiveness of producing splints based on the proposed system

Tenuous Transcriptional Threshold of Human Sex Determination. I. SRY and Swyer Syndrome at the Edge of Ambiguity

Male sex determination in mammals is initiated by SRY, a Y-encoded transcription factor. The protein contains a high-mobility-group (HMG) box mediating sequence-specific DNA bending. Mutations causing XY gonadal dysgenesis (Swyer syndrome) cluster in the box and ordinarily arise de novo. Rare inherited variants lead to male development in one genetic background (the father) but not another (his sterile XY daughter). De novo and inherited mutations occur at an invariant Tyr adjoining the motif’s basic tail (box position 72; Y127 in SRY). In SRY-responsive cell lines CH34 and LNCaP, de novo mutations Y127H and Y127C reduced SRY activity (as assessed by transcriptional activation of principal target gene Sox9) by 5- and 8-fold, respectively. Whereas Y127H impaired testis-specific enhancer assembly, Y127C caused accelerated proteasomal proteolysis; activity was in part rescued by proteasome inhibition. Inherited variant Y127F was better tolerated: its expression was unperturbed, and activity was reduced by only twofold, a threshold similar to other inherited variants. Biochemical studies of wild-type (WT) and variant HMG boxes demonstrated similar specific DNA affinities (within a twofold range), with only subtle differences in sharp DNA bending as probed by permutation gel electrophoresis and fluorescence resonance-energy transfer (FRET); thermodynamic stabilities of the free boxes were essentially identical. Such modest perturbations are within the range of species variation. Whereas our cell-based findings rationalize the de novo genotype-phenotype relationships, a molecular understanding of inherited mutation Y127F remains elusive. Our companion study uncovers cryptic biophysical perturbations suggesting that the para-OH group of Y127 anchors a novel water-mediated DNA clamp

Prenatal diagnosis and molecular cytogenetic characterization of de novo partial monosomy 3p (3p26.3→pter) and partial trisomy 16q (16q23.1→qter)

AbstractObjectiveTo present the prenatal diagnosis and molecular cytogenetic characterization of a de novo unbalanced reciprocal translocation.Case ReportA 37-year-old woman, G3P1, underwent amniocentesis at 17 weeks of gestation because of her advanced maternal age. Her husband was 38 years old. Amniocentesis revealed a derivative chromosome 3 with the deletion of terminal 3p and the addendum of an unknown extra chromosomal segment on the distal 3p. The parental karyotypes were normal. Prenatal ultrasound findings were unremarkable. Array comparative genomic hybridization (aCGH) analysis using cultured amniocytes revealed a 2.38-Mb deletion in 3p26.3 [arr 3p26.3 (1-2,380,760)×1] encompassing 15 genes, which included 3 OMIM genes CHL1, CNTN6, and CNTN4, and a 13.17-Mb duplication in 16q23.1-q24.3 [arr 16q23.1q24.3 (76,999,082-90,170,596)×3] encompassing 207 genes, which included 81 OMIM genes. The pregnancy was subsequently terminated, and a malformed fetus was delivered with facial dysmorphism. Postnatal cord blood analysis revealed a karyotype of 46,XY,der(3)t(3;16)(p26.3;q23.1)dn. Polymorphic DNA marker analysis by quantitative fluorescent polymerase chain reaction (QF-PCR) on the DNAs extracted from the placenta and parental blood showed a paternal origin of the aberrant chromosome.ConclusionThe aCGH and QF-PCR analyses helped in delineating the genomic imbalance and parental origin of prenatally detected de novo unbalanced reciprocal translocation