bluuebunny/crossref_metadata_2025_split huggingface dataset:
Socioeconomic Disparities in Language Input Are Associated With Children's Language‐Related Brain Structure and Reading Skills
Authors: Merz Emily C. , Maskus Elaine A. , Melvin Samantha A. , He Xiaofu , Noble Kimberly G. 
Published: March 2019

The mechanisms underlying socioeconomic disparities in children's reading skills are not well understood. This study examined associations among socioeconomic background, home linguistic input, brain structure, and reading skills in 5‐to‐9‐year‐old children (N = 94). Naturalistic home audio recordings and high‐resolution, T1‐weighted MRI scans were acquired. Children who experienced more adult–child conversational turns or adult words had greater left perisylvian cortical surface area. Language input mediated the association between parental education and left perisylvian cortical surface area. Language input was indirectly associated with children's reading skills via left perisylvian surface area. Left perisylvian surface area mediated the association between parental education and children's reading skills. Language experience may thus partially explain socioeconomic disparities in language‐supporting brain structure and in turn reading skills.
Early activating somatic PIK3CA mutations promote ectopic muscle development and upper limb overgrowth
Authors: Frisk Sofia , Taylan Fulya , Blaszczyk Izabela , Nennesmo Inger , Annerén Göran , Herm Bettina , Stattin Eva‐Lena , Zachariadis Vasilios , Lindstrand Anna , Tesi Bianca , Laurell Tobias , Nordgren Ann 
Published: March 2019

Abstract
PIK3CA‐related overgrowth spectrum is a group of rare genetic disorders with asymmetric overgrowth caused by somatic mosaic PIK3CA mutations. Here, we report clinical data and molecular findings from two patients with congenital muscular upper limb overgrowth and aberrant anatomy. During debulking surgery, numerous ectopic muscles were found in the upper limbs of the patients. DNA sequencing, followed by digital polymerase chain reaction, was performed on DNA extracted from biopsies from hypertrophic ectopic muscles and identified the somatic mosaic PIK3CA hotspot mutations c.3140A > G, p.(His1047Arg) and c.1624G > A, p.(Glu542Lys) in a male (patient 1) and a female (patient 2) patient, respectively. Patient 1 had four ectopic muscles and unilateral isolated muscular overgrowth while patient 2 had 13 ectopic muscles and bilateral isolated muscular overgrowth of both upper limbs, indicating that her mutation occurred at early pre‐somitic mesoderm state. The finding of PIK3CA mutations in ectopic muscles highlights the importance of PIK3CA in cell fate in early human embryonic development. Moreover, our findings provide evidence that the disease phenotype depends on the timing of PIK3CA mutagenesis during embryogenesis and confirm the diagnostic entity PIK3CA‐related muscular overgrowth with ectopic accessory muscles.
Heterogeneity and overlaps in nucleotide excision repair disorders
Authors: Ferri Debora , Orioli Donata , Botta Elena 
Published: March 2019

AbstractNucleotide excision repair (NER) is an essential DNA repair pathway devoted to the removal of bulky lesions such as photoproducts induced by the ultraviolet (UV) component of solar radiation. Deficiencies in NER typically result in a group of heterogeneous distinct disorders ranging from the mild UV sensitive syndrome to the cancer‐prone xeroderma pigmentosum and the neurodevelopmental/progeroid conditions trichothiodystrophy, Cockayne syndrome and cerebro‐oculo‐facio‐skeletal‐syndrome. A complicated genetic scenario underlines these disorders with the same gene linked to different clinical entities as well as different genes associated with the same disease. Overlap syndromes with combined hallmark features of different NER disorders can occur and sporadic presentations showing extra features of the hematological disorder Fanconi Anemia or neurological manifestations mimicking Hungtinton disease‐like syndromes have been described. Here, we discuss the multiple functions of the five major pleiotropic NER genes (ERCC3/XPB, ERCC2/XPD, ERCC5/XPG, ERCC1 and ERCC4/XPF) and their relevance in phenotypic complexity. We provide an update of mutational spectra and examine genotype‐phenotype relationships. Finally, the molecular defects that could explain the puzzling overlap syndromes are discussed.
Impaired glucose tolerance, body mass index and respiratory function in patients with cystic fibrosis: A systematic review
Authors: Iwanicki Courtney , Logomarsino John V. 
Published: March 2019

AbstractObjectivesThis systematic review aims to evaluate body mass index (BMI) and forced expiratory volume in one second (FEV1) in patients with cystic fibrosis (CF) diagnosed with impaired glucose tolerance (IGT) compared to those with normal glucose tolerance (NGT). The significance of this topic stems from concern that individuals with CF and IGT may have an overall worse clinical status as indicated by BMI and FEV1.Data SourceAn exhaustive literature search was completed between July 2017 and September 2017 using PubMed, CINAHL, Web of Science, Dissertations & Theses, PsycINFO, and Open Grey. Studies were limited to human subjects with CF. There were no restrictions on publication date, study design or language.Study SelectionIncluded studies examined BMI and FEV1 as outcome measures in individuals with CF and IGT compared to those with NGT. After screening for inclusion criteria, 12 observational studies met the specified conditions.ResultsTwo studies showed a significantly worse BMI and FEV1 in subjects with CF and IGT compared to those with NGT. The remaining 10 studies found no significant associations with BMI and FEV1 in subjects with CF and IGT compared to NGT.ConclusionAlthough this review does not prove cause and effect, BMI and FEV1 are important outcome measures in patients with CF. Considering the inconclusive findings, practitioners should individualize care for this patient population. Additional research should focus on clinical status and interventions/treatment for individuals with CF and IGT.
Bacterial sexually transmitted infections
Authors: Buder Susanne , Schöfer Helmut , Meyer Thomas , Bremer Viviane , Kohl Peter K. , Skaletz‐Rorowski Adriane , Brockmeyer Norbert 
Published: March 2019

SummaryWorldwide, the incidence of bacterial sexually transmitted infections (STIs) has shown a significant increase in recent years. In Germany, this circumstance is reflected by a rise in the number of reported syphilis cases. There has also been an uptick in the incidence of non‐notifiable STIs such as gonorrhea and infections caused by Chlamydia trachomatis and Mycoplasma genitalium. A key factor in the spread of these infections is their varied clinical presentation, which includes urogenital, pharyngeal and rectal involvement as well as a large number of asymptomatic cases. New real‐time multiplex PCR methods allow for rapid and targeted detection of STI pathogens. The most common bacterial STI is urogenital chlamydial infection caused by serovars D–K, which affects young adults in particular. Lymphogranuloma venereum (LGV) caused by L serovars often presents as chlamydial proctitis. In recent years, Neisseria (N.) gonorrhoeae has shown a significant development of resistance, with high‐level monoresistance and multiresistance to antibiotics commonly used for treatment. It is therefore imperative that sensitivity testing of N. gonorrhoeae be performed in addition to nucleic acid amplification tests (NAATs). Increased drug resistance has also been observed for Mycoplasma genitalium, a fact that complicates treatment.
Cheiroarthropathy and tendinopathy in diabetes
Authors: Hill N. E. , Roscoe D. , Stacey M. J. , Chew S. 
Published: March 2019

AbstractJoint problems commonly occur in people with diabetes. Cheiroarthropathy affects the hands and results in painless limited finger joint extension, appearing to be associated with longer diabetes duration and the presence of microvascular complications. The prevalence of cheiroarthropathy seems to be falling, perhaps as a result of improvements in glycaemic management. Non‐enzymatic glycation of collagen results in abnormally crosslinked protein resistant to degradation with subsequent increased build‐up of collagen in joints. The management of cheiroarthropathy is predominantly conservative, with occupational and hand therapy at the forefront. Tendinopathy is more common in people with diabetes than those without, and is associated with obesity and insulin resistance. As with cheiroarthropathy, the exact causative mechanism of tendinopathy in diabetes is not known, but may be linked to inflammation, apoptosis and increased vascularity of affected tendons, driven by hyperinsulinaemia. Local fat pads have also been suggested to play a role in the pathogenesis of tendinopathy.
Resolving the invasion paradox: pervasive scale and study dependence in the native‐alien species richness relationship
Authors: Tomasetto Federico , Duncan Richard P. , Hulme Philip E. 
Published: March 2019

AbstractThe degree to which plant communities are vulnerable to invasion by alien species has often been assessed using the relationship between native and alien plant species richness (NAR). Variation in the direction and strength of the NAR tends to be negative for small plot sizes and study extents, but positive for large plots and extents. This invasion paradox has been attributed to different processes driving species richness at different spatial scales. However, the focus on plot size has drawn attention away from other factors influencing the NAR, in part because the influence of other factors may be obscured by or interact with plot size. Here, we test whether variation in the NAR can be explained by covariates linked to community susceptibility to invasion and whether these interact with plot size using a quantitative meta‐analysis drawn from 87 field studies that examined 161 NARs. While plot size explained most variation, the NAR was less positive in grassland habitats and in the Australasian region. Other covariates did not show strong relationships with the NAR even after accounting for interactions with plot size. Instead, much of the unexplained variation is associated with article or author specific differences, suggesting the NAR depends strongly on how different authors choose their study system or study design.
“It Tastes Like Order”: Psychotic Evidence for Antipsychotic Efficacy and Medicated Subjectivity
Authors: D'Arcy Michael 
Published: March 2019

AbstractWhat counts as evidence in contemporary debates about antipsychotic efficacy? Current research in the fields of psychiatry, public health, and the social sciences continues to cast doubt upon the efficacy of antipsychotic medications, but patient testimonies illuminating the intersection of psychotic experience and the psychiatric injunction to adhere are largely missing from research about psychotropic medications’ intended and actually reported effects. Drawing on ethnographic fieldwork in an inpatient psychiatric ward and the community mental health network of Dublin, Ireland, this article explores the ways in which mental health patients are actively engaged in an ongoing process of experimenting with their psychopharmaceuticals, often in the pursuit of an idiosyncratically medicated subjectivity. Joining larger debates about the epistemologically plural nature of evidentiary claims regarding psychopharmaceutical efficacy, this article seeks to foreground the dialogue between clinicians and patients, the latter of whom offer invaluable insights regarding the experience of living with psychosis.
Hair growth control by innate immunocytes: Perifollicular macrophages revisited
Authors: Muneeb Ferhan , Hardman Jonathan A. , Paus Ralf 
Published: March 2019

AbstractThe role of innate immunocytes such as mast cells, γδ T cells, NK cells and macrophages (MACs) in hair growth control under physiological and pathological conditions has recently begun to be re‐explored. Here, we revisit the role of resident perifollicular macrophages (pfMACs) located in the hair follicle (HF) mesenchyme (CTS). Substantial, stringently timed fluctuations in the number and localization of pfMACs were first observed long ago during murine HF morphogenesis and cycling. This already suggested some involvement of these innate immunocytes, with a recognized role in tissue remodelling and in hair growth control. The relatively recent demonstration of a Wnt signalling‐driven crosstalk between these immunocytes and HF epithelial stem cells in telogen HFs, which promotes anagen induction, has reinvigorated interest in the role that pfMAC plays in hair biology. Besides the apoptosis‐associated secretion of stem cell–activating Wnts and the differential secretion of HF‐targeting growth factors such as FGF‐5 and FGF5s from pfMACs, we also explore how MAC polarization, and thus function, may be influenced by the local metabolic and immune environment. Moreover, we examine how pfMACs may contribute to hair cycle–associated angiogenesis, vascular remodelling, HF immune privilege and immunopathology. On this basis, we discuss why targeting pfMACs may be relevant in the management of hair growth disorders. Finally, we argue that studying pfMACs offers an excellent, clinically relevant model system for characterizing and experimentally manipulating MAC interactions with an easily accessible mammalian, continuously remodelled (mini‐)organ under both physiological and pathological conditions.
Human stratum corneum proteomics reveals cross‐linking of a broad spectrum of proteins in cornified envelopes
Authors: Karim Noreen , Phinney Brett S. , Salemi Michelle , Wu Pei‐Wen , Naeem Muhammad , Rice Robert H. 
Published: March 2019

AbstractDefects in keratinocyte transglutaminase (TGM1), resulting in an improper protein scaffold for deposition of the lipid barrier, comprise a major source of autosomal recessive congenital ichthyosis. For that reason, the composition and formation of the cornified (cross‐linked) protein envelope of the epidermis have been of considerable interest. Since the isopeptide cross‐linked protein components are not individually isolable once incorporated, purified envelopes were analysed by mass spectrometry after trypsin digestion. Quantitative estimates of the identified components revealed some 170 proteins, each comprising at least 0.001% of the total, of which keratins were major constituents accounting for ≈74% of the total. Some prevalent non‐keratin constituents such as keratinocyte proline‐rich protein, loricrin and late envelope protein‐7 were preferentially incorporated into envelopes. The results suggest a model where, as previously observed in hair shaft and nail plate, a diversity of cellular proteins are incorporated. They also help rationalize the minimal effect on epidermis of ablating genes for specific single envelope structural components. The quantitative profile of constituent proteins provides a foundation for future exploration of envelope perturbations that may occur in pathological conditions.
Assessment of Couple Relationships Standards in Same‐Sex Attracted Adults
Authors: Baker Nicholas A. , Halford W. Kim 
Published: March 2019

Relationship standards are beliefs about what makes a good romantic relationship. To date, no research on relationship standards in same‐sex relationships has been conducted. This paper describes development of the Rainbow Couples Relationship Standards Scale (Rainbow CRSS). In common with measures of relationship standards developed with heterosexuals, the Rainbow CRSS assesses the importance people attach to Couple Bond standards (expression of love, caring, intimacy), Family Responsibility standards (extended family relations, maintenance of face and harmony), Religion, and Relationship Effort standards. The Rainbow CRSS also assesses three standards hypothesized to be of particular importance to same‐sex couples: Relationship Outness (public disclosure of the relationship), Sexual Openness (acceptance of open sexual relationship), and Dyadic Coping with Homophobic discrimination. Participants were 414 same‐sex attracted men and women who completed the Rainbow CRSS online, plus some validation scales. The Rainbow CRSS showed a coherent two‐level factor structure that was similar to that in heterosexual couples for the Couple Bond and Family Responsibility Scales. Same‐sex attracted people's standards were similar for men and women, and for singles versus those in a relationship. Same‐sex attracted people's standards were very similar in endorsement of Couple Bond, Family Responsibility, Religion, and Relationship Effort standards to those of heterosexuals. The Relationship Outness and Dyadic Coping with Homophobia scales assessed potentially important standards that reflect some distinctive challenges for same‐sex couple relationships.
Effect of tolvaptan on the prognosis of patients with hepatic ascites
Authors: Hiramine Yasunari , Uto Hirofumi , Mawatari Seiichi , Kanmura Shuji , Imamura Yasushi , Hiwaki Takuya , Saishoji Akiko , Yada Takazumi , Inada Yukiko , Sakamoto Hidemori , Higashi Hirofumi , Kubozono Osamu , Maenohara Shigeho , Ido Akio 
Published: March 2019

AimDespite accumulating evidence concerning the efficacy of tolvaptan in the treatment of body fluid retention or hyponatremia, the effect of tolvaptan on the prognosis of patients with hepatic ascites has not been fully investigated.MethodsA total of 628 patients with hepatic ascites who were treated with diuretics (furosemide, spironolactone, or tolvaptan) between 2007 and 2017 were enrolled and divided into two groups: those who received tolvaptan (original tolvaptan group, n = 278) and those who did not (original control group, n = 350). The cumulative survival rates between the groups were compared and the factors associated with survival in patients with hepatic ascites were identified using a Cox regression analysis. In addition, propensity score matching was applied in patients who started conventional diuretics for new‐onset hepatic ascites after September 2013 (pre‐matching tolvaptan group, n = 177; pre‐matching control group, n = 63), and the cumulative survival rates were compared between the post‐matching tolvaptan and control groups.ResultsThe survival rate was significantly higher in the tolvaptan group than the control group (P = 0.005), and tolvaptan therapy was identified as an independent factor associated with survival (hazard ratio 0.721 for death relative to control, P < 0.001). The propensity score‐matched comparison also showed a significantly higher survival rate in the tolvaptan group (n = 51) than in the control group (n = 51) (P = 0.009).ConclusionsThis study suggests that tolvaptan might improve the prognosis of patients with hepatic ascites.
Supply chain financing with advance selling under disruption
Authors: Gupta Varun , Chutani Anshuman 
Published: March 2019

AbstractWe study a financing problem in a supply chain (SC) consisting of one supplier and one buyer under supply disruption. The supplier could face a disruption at its end which could effectively reduce its yield in case of disruption, thereby resulting in supply yield uncertainty. The retailer can finance the supplier using advance selling that can help mitigate the impact of disruption. We model this problem as a Stackelberg game, where the supplier as the leader announces the wholesale price and the retailer responds by deciding its optimal order quantity given stochastic demand and an exogenous fixed retail price. The supplier then commences production and a disruption can happen with a known probability. We assume that under disruption the quantity delivered is a fraction of the initial quantity ordered by the retailer. The retailer loses any unmet demand. We analyze three different scenarios of the Stackelberg game, namely no advance selling with disruption, advance selling without disruption, and advance selling with disruption. Our results indicate that advance selling can be used to mitigate the impact of supply disruption and at the same time could lead to an increase in the overall SC profit.
Vascular progenitor cell senescence in patients with Marfan syndrome
Authors: He Haiwei , Yu Baoqi , Liu Zipeng , Ye Gen , You Wei , Hong Yimei , Lian Qizhou , Zhang Yuelin , Li Xin 
Published: March 2019

AbstractVascular progenitor cells (VPCs) present in the adventitia of the vessel wall play a critical role in the regulation of vascular repair following injury. This study aimed to assess the function of VPCs isolated from patients with Marfan syndrome (MFS). VPCs were isolated from control and MFS donors and characterized. Compared with control‐VPCs, MFS‐VPCs exhibited cellular senescence as demonstrated by increased cell size, higher SA‐β‐gal activity and elevated levels of p53 and p21. RNA sequencing showed that several cellular process‐related pathways including cell cycle and cellular senescence were significantly enriched in MFP‐VPCs. Notably, the expression level of TGF‐β1 was much higher in MFS‐VPCs than control‐VPCs. Treatment of control‐VPCs with TGF‐β1 significantly enhanced mitochondrial reactive oxidative species (ROS) and induced cellular senescence whereas inhibition of ROS reversed these effects. MFS‐VPCs displayed increased mitochondrial fusion and decreased mitochondrial fission. Treatment of control‐VPCs with TGF‐β1 increased mitochondrial fusion and reduced mitochondrial fission. Nonetheless, treatment of mitofusin2 (Mfn2)‐siRNA inhibited TGF‐β1‐induced mitochondrial fusion and cellular senescence. Furthermore, TGF‐β1‐induced mitochondrial fusion was mediated by the AMPK signalling pathway. Our study shows that TGF‐β1 induces VPC senescence in patients with MFS by mediating mitochondrial dynamics via the AMPK signalling pathway.
Commentary: Studies of prenatal antidepressant exposures: what can you recommend? A reflection on Sujan et al. (2019)
Authors: Talati Ardesheer , Weissman Myrna M. 
Published: March 2019

The review by Sujan et al. asks a question of clinical and public health importance: are antidepressant medications safe to use during pregnancy from the perspective of their potential effects on the infant and growing child? They provide a thorough review of the animal and human literature to date, focusing primarily on offspring neurodevelopmental outcomes (autism spectrum disorder, ASD, and attention deficit hyperactivity disorder, ADHD). They conclude, based on their review, that antidepressant exposure in pregnancy does not substantially increase the risk of these outcomes, and that women should therefore be reassured about the safety of these medications when used in pregnancy. While their review should be of interest to clinicians and researchers, we would advocate a more conservative approach. Even if associations with ASD and ADHD are equivocal, there is still evidence that SSRI exposure may be associated with outcomes occurring at other developmental timepoints. Clinical recommendations should be based on a fuller picture of potential risks and benefits to both the mother and the fetus, in the context of the mother's underlying depression. In this commentary, we also suggest some approaches that future observational studies may adopt to help strengthen the interpretability of findings.