Controlling many-body states by the electric-field effect in a two-dimensional material.

To understand the complex physics of a system with strong electron-electron interactions, the ideal is to control and monitor its properties while tuning an external electric field applied to the system (the electric-field effect). Indeed, complete electric-field control of many-body states in strongly correlated electron systems is fundamental to the next generation of condensed matter research and devices. However, the material must be thin enough to avoid shielding of the electric field in the bulk material. Two-dimensional materials do not experience electrical screening, and their charge-carrier density can be controlled by gating. Octahedral titanium diselenide (1T-TiSe2) is a prototypical two-dimensional material that reveals a charge-density wave (CDW) and superconductivity in its phase diagram, presenting several similarities with other layered systems such as copper oxides, iron pnictides, and crystals of rare-earth elements and actinide atoms. By studying 1T-TiSe2 single crystals with thicknesses of 10 nanometres or less, encapsulated in two-dimensional layers of hexagonal boron nitride, we achieve unprecedented control over the CDW transition temperature (tuned from 170 kelvin to 40 kelvin), and over the superconductivity transition temperature (tuned from a quantum critical point at 0 kelvin up to 3 kelvin). Electrically driving TiSe2 over different ordered electronic phases allows us to study the details of the phase transitions between many-body states. Observations of periodic oscillations of magnetoresistance induced by the Little-Parks effect show that the appearance of superconductivity is directly correlated with the spatial texturing of the amplitude and phase of the superconductivity order parameter, corresponding to a two-dimensional matrix of superconductivity. We infer that this superconductivity matrix is supported by a matrix of incommensurate CDW states embedded in the commensurate CDW states. Our results show that spatially modulated electronic states are fundamental to the appearance of two-dimensional superconductivity.

Macronutrient composition of milk from two captive African elephant (Loxodonta africana) cows.

We assayed 31 milk samples collected from two African elephant cows housed at the Indianapolis Zoo across lactation (birth to calf age 973 days) for macronutrient composition (water, fat, protein, sugar, gross energy [GE], ash, calcium, and phosphorus). All assays were performed at the Smithsonian National Zoological Park Nutrition Laboratory, Washington, DC (SNZP) using standard methods developed at SNZP. Milk constituents are expressed on a weight-per-weight basis (%) and as a proportion each constituent contributes to milk energy. Calf weights were recorded, and growth rate calculated. The macronutrient composition of the African elephant milk samples was compared to previously published results for Asian elephants using analysis of covariance. African elephant milk is similar to Asian elephant milk, being moderately high in fat and energy and low in sugar. The mean values across lactation (excluding colostrum; n = 28) are 5.6 ± 0.3% crude protein, 3.1 ± 0.3% sugar, 13.0 ± 1.0% fat, and GE of 1.63 ± 0.10 kcal/g. Milk composition did not differ between cows. Milk composition significantly changed over lactation; fat and protein increased, and sugar decreased with calf age, comparable to previously reported data for African and Asian elephant milk. The proportion of milk energy from fat increased and that from sugar decreased over lactation, but the energy from protein was relatively constant. Protein contributed a higher proportion of energy to African elephant milk compared to Asian elephant milk (20.6% vs. 17.0%, p = .001). Despite this, calf growth rate was similar between the species, with the calves in this study gaining about 0.8 kg/day for the first 6 months.

Homozygous indel mutation in CDH11 as the probable cause of Elsahy-Waters syndrome.

Two sisters from a consanguineous couple were seen in genetics department for facial dysmorphic features and glaucoma. They both had broad foreheads, hypertelorism, megalocorneas, thick eyebrows with synophrys, flat malar regions, broad and bulbous noses, and mild prognathism. Both had glaucoma, younger one also had cataracts and phthisis bulbi. Other findings included bilateral partial cutaneous syndactyly of 2nd and 3rd fingers, history of impacted teeth with dentigerous cyst in the elder one, and intellectual disability (mild and borderline). The sisters were considered to have Elsahy-Waters syndrome. In order to elucidate the underlying molecular cause, sisters and their healthy parents were genotyped by SNP arrays, followed by homozygosity mapping. Homozygous regions were further analyzed by exome sequencing in one affected individual. A homozygous indel variant segregating with the condition was detected in CDH11 (c.1116_1117delinsGATCATCAG, p.(Ile372MetfsTer9)), which was then validated by using Sanger sequencing. CDH11 encodes cadherin 11 (osteo-cadherin) that regulates cell-cell adhesion, cell polarization and migration, as well as osteogenic differentiation. Further experiments revealed that CDH11 expression was decreased in patient-derived fibroblasts as compared to the heterozygous parent and another healthy donor. Immunostaining showed absence of the protein expression in patient fibroblasts. In addition, cell proliferation rate was slow and osteogenic differentiation potential was delayed. We consider that this study reveals loss-of-function mutations in CDH11 as a probable cause of this phenotype. Next generation sequencing in further patients would both prove this gene as causative, and finely delineate this clinical spectrum further contributing in identification of other possibly involved gene(s).

Quantum Transport and Observation of Dyakonov-Perel Spin-Orbit Scattering in Monolayer MoS_{2}.

Monolayers of group 6 transition metal dichalcogenides are promising candidates for future spin-, valley-, and charge-based applications. Quantum transport in these materials reflects a complex interplay between real spin and pseudospin (valley) relaxation processes, which leads to either positive or negative quantum correction to the classical conductivity. Here we report experimental observation of a crossover from weak localization to weak antilocalization in highly n-doped monolayer MoS_{2}. We show that the crossover can be explained by a single parameter associated with electron spin lifetime of the system. At low temperatures and high carrier densities, the spin lifetime is inversely proportional to momentum relaxation time; this indicates that spin relaxation occurs via a Dyakonov-Perel mechanism.

Quantum Transport Detected by Strong Proximity Interaction at a Graphene-WS2 van der Waals Interface.

Magnetotransport measurements demonstrate that graphene in a van der Waals heterostructure is a sensitive probe of quantum transport in an adjacent WS2 layer via strong Coulomb interactions. We observe a large low-field magnetoresistance (≫ e(2)/h) and a -ln T temperature dependence of the resistance. In-plane magnetic field resistance indicates the origin is orbital and nonclassical. We demonstrate a strong electron-hole asymmetry in the mobility and coherence length of graphene demonstrating the presence of localized Coulomb interactions with ionized donors in the WS2 substrate, which ultimately leads to screening as the Fermi level of graphene is tuned toward the conduction band of WS2. This leads us to conclude that graphene couples to quantum localization processes in WS2 via the Coulomb interaction and results in the observed signatures of quantum transport. Our results show that theoretical descriptions of the van der Waals interface should not ignore localized strong correlations.

Electronic properties of graphene encapsulated with different two-dimensional atomic crystals.

Hexagonal boron nitride is the only substrate that has so far allowed graphene devices exhibiting micrometer-scale ballistic transport. Can other atomically flat crystals be used as substrates for making quality graphene heterostructures? Here we report on our search for alternative substrates. The devices fabricated by encapsulating graphene with molybdenum or tungsten disulfides and hBN are found to exhibit consistently high carrier mobilities of about 60 000 cm(2) V(-1) s(-1). In contrast, encapsulation with atomically flat layered oxides such as mica, bismuth strontium calcium copper oxide, and vanadium pentoxide results in exceptionally low quality of graphene devices with mobilities of ∼1000 cm(2) V(-1) s(-1). We attribute the difference mainly to self-cleansing that takes place at interfaces between graphene, hBN, and transition metal dichalcogenides. Surface contamination assembles into large pockets allowing the rest of the interface to become atomically clean. The cleansing process does not occur for graphene on atomically flat oxide substrates.

Sex differences in perceived discrimination among patients with obesity.

The negative impacts of perceived discrimination on health have been documented, but how perceptions of discrimination vary by sex among people with obesity (PWO) is not well understood. This study assessed sex differences in perceived discrimination among PWO. This cross-sectional study analysed self-reported data from racially/ethnically diverse PWO attending an academic obesity program. The primary outcome was perceived discrimination, assessed by the Major Experiences of Discrimination (MED) and Everyday Discrimination Scale (EDS). Sex differences were evaluated by univariate and multivariable regression analysis adjusted for key descriptive variables. The final analytical sample included 60 PWO (62% female, 61% non-Hispanic white (NHW), 12% Hispanic, 39% non-Hispanic black (NHB), mean age 53 years, mean BMI 34 kg/m2). Women experienced everyday discrimination 59% less than men but this was not significant (OR 0.41; 95% CI 0.08-2.16; p = .29). Participant highest BMI was correlated with acute discrimination (total MED score) (r = 0.39; p = .0024) and chronic discrimination (total EDS score) (r = 0.28; p = .03). Most participants reported more chronic discrimination compared to acute discrimination (85% vs. 48%). Mean MED (ß -0.18; 95% CI -0.93 to +0.56; p = .62) and EDS scores (ß -0.25; 95% CI -3.37 to +2.87; p = .87) were not significantly different between women and men. Perceived discrimination was common and experienced equally between men and women with obesity. Incorporating discrimination experiences into obesity care models may be an important step to improving quality of care and outcomes.

Factors that shape pregnant women's perceptions regarding the safety of cannabis use during pregnancy.

BACKGROUND: Cannabis use among pregnant women has increased. We surveyed pregnant women in rural Pennsylvania to examine cannabis use and opinions regarding its safety during pregnancy. We examined associations between challenges of pregnancy (e.g., exhaustion, pain, nausea) and cannabis use. METHODS: A cross-sectional survey was administered to a convenience sample of English-speaking pregnant women receiving prenatal care at Geisinger, May-June 2019. Principal component analysis (PCA) was used to construct three scores (overwhelmed/exhausted, happy/optimistic, and health worries) based on 10 questions regarding common experiences during pregnancy (e.g., nausea/vomiting, pain, exhaustion, mood). A score based on four questions regarding cannabis safety during pregnancy was also constructed. RESULTS: From a maximum of 300 surveys distributed, 284 were completed (95%). Most participants were white (87%), married (49%) or living with a partner (38%), and had private health insurance (62%). Most women indicated it was unsafe to use alcohol and tobacco products during pregnancy (> 90%), but that proportion dropped to 82% and 63% regarding recreational cannabis and medical cannabis, respectively. Only women with prior cannabis use (23% of sample) continued to do so during pregnancy: 57% of women reporting daily cannabis use prior to pregnancy continued to use cannabis during pregnancy with 33% reporting daily use. Two thirds of users during pregnancy indicated they were self-medicating for: nausea (90%), anxiety (70%), insomnia (30%), and pain management (30%). Many (56%) of the women who used cannabis during pregnancy believed it is safe. Younger women and women who were overwhelmed/exhausted or less happy/optimistic were more likely to believe cannabis use is safe. Women valued healthcare provider advice more than advice from family and friends. Study strengths include a high response rate. Weaknesses include self-report and that is was a convenience sample; however, the demographics of the sample were similar to past studies. CONCLUSION: Women with a history of cannabis use, especially daily use, are at risk of continuing during pregnancy and should receive counseling. Younger women and women with greater stressors during pregnancy also are at greater risk. Screening for prior use and for stressors may identify patients that would benefit from enhanced counseling.

WAGR syndrome with tetralogy of Fallot and hydrocephalus.

Wilms tumor, aniridia, genitourinary abnormalities, and mental retardation (WAGR) syndrome occurs sporadically due to deletion of chromosome 11p13. A variety of other abnormalities involving different systems have been reported in patients with WAGR syndrome. We report on a patient with WAGR syndrome with accompanying tetralogy of Fallot and hydrocephalus.

OBGYN practice patterns regarding combination therapy for prevention of preterm birth: A national survey.

OBJECTIVE: Our objective was to examine if US obstetrician-gynecologists (OBGYNs) practice outside of evidenced-based guidelines and use a combination of interventions to prevent spontaneous preterm birth (sPTB). STUDY DESIGN: An electronic survey was distributed to members of the Pregnancy-Related Care Research Network (PRCRN), and also to members of the Society of Maternal-Fetal Medicine (SMFM). The survey consisted of questions regarding physician demographics, and the use of interventions to prevent sPTB in women with 1) a prior sPTB, 2) an incidental short cervix (no prior sPTB), and 3) a history of cervical insufficiency. RESULTS: The PRCRN response rate was 58.6% (283/483) with an additional 143 responses from SMFM members. Among PRCRN responders, 82.7% were general OBGYNs and 17.3% were Maternal-Fetal Medicine subspecialists. Respondents were from all geographic regions of the country; most practiced in a group private practice (42.6%) or academic institution (31.4%). In women with prior sPTB, 45.2% of respondents would consider combination therapy, most commonly weekly intramuscular progesterone (IM-P) and serial cervical length (CL) measurements. If the patient then develops a short cervix, 33.7% would consider adding an ultrasound-indicated cerclage. In women with an incidental short cervix, 66.8% of respondents were likely to recommend single therapy with daily vaginal progesterone (VP). If a patient developed an incidentally dilated cervix, 40.8% of PRCRN respondents would recommend dual therapy, most commonly cerclage + VP, whereas 64.3% of SMFM respondents were likely to continue with VP only. In women with a history of cervical insufficiency, 47% of PRCRN respondents indicated they would consider a combination of IM-P, history-indicated cerclage and serial CL measurements. CONCLUSION: Although not currently supported by evidence-based medicine, combination therapy is commonly being used by U.S. OBGYNs to prevent sPTB in women with risk factors such as prior sPTB, short or dilated cervix or more than one of these risks.

Epigenetic marks in suicide: a review.

Suicide is a complex phenomenon and a global public health problem that involves several biological factors that could contribute to the pathophysiology of suicide. There is evidence that epigenetic factors influence some psychiatric disorders, suggesting a predisposition to suicide or suicidal behavior. Here, we review studies of molecular mechanisms of suicide in an epigenetic perspective in the postmortem brain of suicide completers and peripheral blood cells of suicide attempters. Besides, we include studies of gene-specific DNA methylation, epigenome-wide association, histone modification, and interfering RNAs as epigenetic factors. This review provides an overview of the epigenetic mechanisms described in different biological systems related to suicide, contributing to an understanding of the genetic regulation in suicide. We conclude that epigenetic marks are potential biomarkers in suicide, and they could become attractive therapeutic targets due to their reversibility and importance in regulating gene expression.

Integrating evolution into medical education for women's health care practitioners.

Evolution is a fundamental principle in biology; however, it has been neglected in medical education. We argue that an evolutionary perspective is especially important for women's health care providers, as selection will act strongly on reproductive parameters, and the biological costs of female reproduction are generally more resource expensive than for men (e.g. due to gestation and lactation) with greater effects on health and wellbeing. An evolutionary perspective is needed to understand antibiotic resistance, disease and health risks associated with mismatches between our evolved adaptations and current conditions, the importance of the microbiome and the maternal role in how infants acquire and develop their early-life microbiome (vaginal birth, lactation), and the importance of breastmilk as a biochemical signal from mothers to their babies. We present data that obstetrician-gynecologists' views regarding the inclusion of evolution within their training is generally positive, but many barriers are perceived. Requiring coursework in evolutionary biology with an emphasis on evolutionary medicine prior to enrollment in medical school may be a solution.

A Quest for New Cancer Diagnosis, Prognosis and Prediction Biomarkers and Their Use in Biosensors Development.

Traditional techniques for cancer diagnosis, such as nuclear magnetic resonance, ultrasound and tissue analysis, require sophisticated devices and highly trained personnel, which are characterized by elevated operation costs. The use of biomarkers has emerged as an alternative for cancer diagnosis, prognosis and prediction because their measurement in tissues or fluids, such as blood, urine or saliva, is characterized by shorter processing times. However, the biomarkers used currently, and the techniques used for their measurement, including ELISA, western-blot, polymerase chain reaction (PCR) or immunohistochemistry, possess low sensitivity and specificity. Therefore, the search for new proteomic, genomic or immunological biomarkers and the development of new noninvasive, easier and cheaper techniques that meet the sensitivity and specificity criteria for the diagnosis, prognosis and prediction of this disease has become a relevant topic. The purpose of this review is to provide an overview about the search for new cancer biomarkers, including the strategies that must be followed to identify them, as well as presenting the latest advances in the development of biosensors that possess a high potential for cancer diagnosis, prognosis and prediction, mainly focusing on their relevance in lung, prostate and breast cancers.

Cryptic trisomy 5q35.2qter and deletion 1p36.3 characterised using FISH and array-based CGH.

A 10(6/12)-year-old boy was referred to the genetics department because of mental retardation and dysmorphic findings including microcephaly, flat face, down-slanting palpebral fissures, strabismus, prominent ears, bulbous nasal tip, down-turned corners of the mouth, narrow palate, clinodactyly of the fifth fingers and generalised eczema. Cytogenetic analysis revealed a karyotype of 47,XY,+mar of paternal origin. Multicolour FISH showed the marker chromosome to be derived from chromosome 15. For further elucidation of the phenotype, array-based comparative genomic hybridisation (aCGH) was performed, which revealed dup(5)(q35.2qter) and del(1)(p36.3). Parental FISH analysis revealed that the translocation occurred de novo. Despite the presence of a clinical phenotype along with a microscopically visible chromosomal aberration, a complex cryptic cytogenetic abnormality was causative for the phenotype of the patient. Elucidation of this complex aberration required combination of the whole cytogenetic toolbox.

Spin-orbit proximity effect in graphene.

The development of spintronics devices relies on efficient generation of spin-polarized currents and their electric-field-controlled manipulation. While observation of exceptionally long spin relaxation lengths makes graphene an intriguing material for spintronics studies, electric field modulation of spin currents is almost impossible due to negligible intrinsic spin-orbit coupling of graphene. In this work, we create an artificial interface between monolayer graphene and few-layer semiconducting tungsten disulphide. In these devices, we observe that graphene acquires spin-orbit coupling up to 17 meV, three orders of magnitude higher than its intrinsic value, without modifying the structure of the graphene. The proximity spin-orbit coupling leads to the spin Hall effect even at room temperature, and opens the door to spin field effect transistors. We show that intrinsic defects in tungsten disulphide play an important role in this proximity effect and that graphene can act as a probe to detect defects in semiconducting surfaces.

Bilateral anterior segment dysgenesis in an infant with partial trisomy 16q and partial monosomy 3p.

Anterior segment dysgenesis comprises a spectrum of malformations arising from faulty neural crest cell migration. We report a newborn boy with partial trisomy 16q and partial monosomy 3p who presented with anterior segment dysgenesis with iris hypoplasia on the right and glaucoma on the left in association with systemic anomalies. The anterior segment dysgenesis features observed in this case have not been previously associated with partial trisomy 16q or partial monosomy 3p. Our findings support the hypothesis that an additional anterior segment dysgenesis gene may reside on chromosome 3p or 16q.

Derivative chromosome 1 and GLUT1 deficiency syndrome in a sibling pair.

BACKGROUND: Genomic imbalances constitute a major cause of congenital and developmental abnormalities. GLUT1 deficiency syndrome is caused by various de novo mutations in the facilitated human glucose transporter 1 gene (1p34.2) and patients with this syndrome have been diagnosed with hypoglycorrhachia, mental and developmental delay, microcephaly and seizures. Furthermore, 1q terminal deletions have been submitted in the recent reports and the absence of corpus callosum has been related to the deletion between C1orf100 and C1orf121 in 1q44. RESULTS: This study reports on a sibling pair with developmental delay, mental retardation, microcephaly, hypotonia, epilepsy, facial dysmorphism, ataxia and impaired speech. Chromosome analysis revealed a derivative chromosome 1 in both patients. FISH and MCB analysis showed two interstitial deletions at 1p34.2 and 1q44. SNP array and array-CGH analysis also determined the sizes of deletions detailed. The deleted region on 1p34.2 encompasses 33 genes, among which is GLUT1 gene (SLC2A1). However, the deleted region on 1q44 includes 59 genes and distal-proximal breakpoints were located in the ZNF672 gene and SMYD3 gene, respectively. CONCLUSION: Haploinsufficiency of GLUT1 leads to GLUT1 deficiency syndrome, consistent with the phenotype in patients of this study. Conversely, in the deleted region on 1q44, none of the genes are related to findings in these patients. Additionally, the results confirm previous reports on that corpus callosal development may depend on the critical gene(s) lying in 1q44 proximal to the SMYD3 gene.