bluuebunny/crossref_metadata_2025_split huggingface dataset:
Biallelic inherited SCN8A variants, a rare cause of SCN8A‐related developmental and epileptic encephalopathy
Authors: Wengert Eric R. , Tronhjem Cathrine E. , Wagnon Jacy L. , Johannesen Katrine M. , Petit Hayley , Krey Ilona , Saga Anusha U. , Panchal Payal S. , Strohm Samantha M. , Lange Jörn , Kamphausen Susanne B. , Rubboli Guido , Lemke Johannes R. , Gardella Elena , Patel Manoj K. , Meisler Miriam H. , Møller Rikke S. 
Published: October 2019

AbstractObjectiveMonoallelic de novo gain‐of‐function variants in the voltage‐gated sodium channel SCN8A are one of the recurrent causes of severe developmental and epileptic encephalopathy (DEE). In addition, a small number of de novo or inherited monoallelic loss‐of‐function variants have been found in patients with intellectual disability, autism spectrum disorder, or movement disorders. Inherited monoallelic variants causing either gain or loss‐of‐function are also associated with less severe conditions such as benign familial infantile seizures and isolated movement disorders. In all three categories, the affected individuals are heterozygous for a SCN8A variant in combination with a wild‐type allele. In the present study, we describe two unusual families with severely affected individuals who inherited biallelic variants of SCN8A.MethodsWe identified two families with biallelic SCN8A variants by diagnostic gene panel sequencing. Functional analysis of the variants was performed using voltage clamp recordings from transfected ND7/23 cells.ResultsWe identified three probands from two unrelated families with DEE due to biallelic SCN8A variants. Each parent of an affected individual carried a single heterozygous SCN8A variant and exhibited mild cognitive impairment without seizures. In both families, functional analysis demonstrated segregation of one allele with complete loss‐of‐function, and one allele with altered biophysical properties consistent with partial loss‐of‐function.SignificanceThese studies demonstrate that SCN8A DEE may, in rare cases, result from inheritance of two variants, both of which exhibit reduced channel activity. In these families, heterozygosity for the dominant variants results in less severe disease than biallelic inheritance of two variant alleles. The clinical consequences of variants with partial and complete loss of SCN8A function are variable and likely to be influenced by genetic background.
The Relationship Between Social Support and Family Relationships Among Low‐Income Couples Attending Relationship Education
Authors: Carlson Ryan G. , Wheeler Naomi J. , Liu Xun , Hipp Christopher , Daire Andrew P. 
Published: October 2019

Results are mixed for relationship education (RE) interventions with low‐income couples. For couples who experienced positive changes, it is not clear what aspects of program models contributed to change. Many low‐income couples attend government‐funded RE with limited access to social and community resources. Program models often provide related resources complimentary to RE skill‐building. We examined the relationship between income, social support, and family functioning for low‐income, ethnically diverse couples (N = 856) who attended RE, as well as the mediating effects of social support on family functioning outcomes. Analyses included three separate dyadic models that examined associations among constructs at baseline and immediately following the RE intervention. Results demonstrated relationships between participants’ reported social support and family functioning such that (a) social support was associated with baseline family functioning for both men and women; (b) men’s baseline social support was influenced by women’s baseline family functioning; and (c) men’s and women’s social support change score had a positive influence on their own family functioning change score. However, social support was not a significant mediator of change in family functioning. Implications for RE practice and research are also discussed.
Enhancing Outpatient Dihydroergotamine Infusion With Interdisciplinary Care to Treat Refractory Pediatric Migraine: Preliminary Outcomes From the Comprehensive Aggressive Migraine Protocol (“CAMP”)
Authors: Connelly Mark , Sekhon Subhjit , Stephens Dane , Boorigie Madeline , Bickel Jennifer 
Published: October 2019

ObjectiveTo determine preliminary outcomes of a treatment for refractory pediatric migraine that integrates outpatient dihydroergotamine (DHE) infusion with interdisciplinary adjunctive care.BackgroundLimited data are available to inform treatment of refractory migraine in children. Intravenous DHE therapy has shown promise but has been implemented in costly inpatient settings and in isolation of nonpharmacological strategies shown to enhance analgesia and functional improvement.MethodsWe conducted a retrospective chart review of 36 patients ages 11‐18 with refractory migraine who underwent a pilot treatment program in an outpatient neurology clinic. The treatment integrated up to 5 days of outpatient DHE infusion with adjunctive nonpharmacological care (pain coping skills training, massage, aromatherapy, and school reintegration support). Changes in headache, healthcare utilization, and functional limitations were assessed as indicators of treatment response through 3‐month follow‐up.ResultsOn average, headache intensity declined (M = 5.8 ± 2.5 to M = 2.4 ± 2.7; P < .0001) during the treatment period and remained statistically significantly improved through 3‐month follow‐up. Headache frequency decreased by a mean of 1.5 days per week (M = 6.7 ± 1.0 vs M = 5.2 ± 2.7, P = .012) through 3‐month follow‐up, with a 27% reduction (from 0.91 to 0.66) in the proportion of patients reporting a continuous headache (P = .009). Over this same follow‐up period, there was a reduction in school days missed per month (median [25th, 75th percentile]: 4.5 [0, 21.0] vs 0 [0.0, 0.5]). There also were reductions in headache‐related visits per month to the emergency department and medical providers. Adverse effects were common but typically minor and transient.ConclusionsCombining outpatient DHE infusion with interdisciplinary adjunctive care has promise as an effective treatment option for adolescents with refractory migraine.
Influence of sprouting on phenolic composition and starch characteristics of lentil and horse gram
Authors: Ghumman Atinder , Singh Narpinder , Kaur Amritpal 
Published: October 2019

SummaryEffect of sprouting on the content of different phenolic compounds and starch characteristics of horse gram was compared to that of lentil. Increase in gallic acid, p‐coumaric acid and ferulic chlorogenic acid content was observed in horse gram and lentil, respectively, with sprouting. Luteolin content in basic‐bound fraction increased in lentil and decreased in horse gram with sprouting. Lentil starches showed higher retrogradation tendency than horse gram starches. Storage modulus and retrogradation tendency of starch gels decreased initially followed by an increase after 96 h of sprouting. Horse gram starches showed higher crystallinity than lentil starches, and crystallinity increased with increase in sprouting period. Horse gram starches showed higher onset, peak and conclusion temperature than lentil starches. Transition temperatures decreased with increase in sprouting duration in both the pulses. Sprouting changed the crystalline structure of starch significantly as well as phenolic composition of both the pulses.
Ethnic and National Sense of Belonging in Canadian Society
Authors: Wu Zheng , So Vivien W. Y. 
Published: October 2019

AbstractThere has been long‐standing debate among Western nations regarding the best approaches for the integration of immigrants into host societies. The core of this debate is between the proponents of assimilation and multiculturalism. Using a large sample of Canadians, we investigated the link between their sense of belonging to their ethno‐racial heritage (ethnic belonging) and to Canada (national belonging) in order to seek answers to the question of whether multiculturalism policies work to strengthen or weaken residents’ loyalty to the nation. Our analyses showed that increases in ethnic belonging significantly predicted increases in national belonging, both for ethno‐racial minorities and Whites, after controlling for demographic variables. These findings extend our understanding of acculturation and integration, provide empirical support for multiculturalism, and suggest that active support of immigrant and non‐immigrant individuals in maintaining connections to their ethno‐racial heritage increases individuals’ loyalty to the nation.
Parents' perceptions regarding couple relationships of their adult children with intellectual disabilities
Authors: Neuman Ran 
Published: October 2019

AbstractBackgroundA particular challenge facing parents of children with intellectual disabilities occurs when their adult children with intellectual disabilities has an interest in pursuing couple relationships. This study explores parents' perceptions regarding the nature of couple relationships, the right of their adult children with intellectual disabilities to pursue such relationships, the difficulties their children encounter and their own role in providing support.MethodInterviews were conducted with 30 parents of adults with intellectual disabilities who had left home for independent and semi‐independent living arrangements. A thematic content analysis was conducted.ResultsWhereas parents used “mutual support” to characterize couple relationships in general, they viewed their children with intellectual disabilities as primarily focused on “physical intimacy” and the couple relationship as a “status symbol,” as well as expressed reservations about their becoming parents.ConclusionsParents should be helped to adopt a more consistent and positive attitude towards their intellectual disabilities children's pursuit of couple relationships.
The quest for physiological pacing—Does one size fit all?
Authors: Kaye Gerry 
Published: October 2019

AbstractPacing is an established and ubiquitous treatment of bradycardias and some types of heart failure. The optimal pacing lead position which maximizes cardiac function and minimizes deterioration of ventricular function remains controversial. The desire to achieve a physiological pacing system that mimics cardiac function has led to the investigation of several potential pacing sites. This editorial provides an overview of past and current pacing lead position and summaries the current and future direction of physiological pacing.
Exposure to Hospital Breastfeeding Support by Maternal Race and Ethnicity: A Pilot Study
Authors: Sipsma Heather L. , Rabinowitz Molly R. , Young Danielle , Phillipi Carrie , Larson Ilse A. , Kair Laura R. 
Published: October 2019

IntroductionThe Ten Steps to Successful Breastfeeding are evidence‐based practices used to improve breastfeeding outcomes, and most are to be implemented shortly after birth. Although breastfeeding is increasing in the United States, racial disparities persist. Available national samples used to examine trends in maternity care rely on maternal recall, which may be subject to error and bias. Thus, we conducted a pilot study to determine the feasibility of a large‐scale study conducted during the birth hospitalization to explore patterns in practices supporting breastfeeding across maternal racial and ethnic groups.MethodsA convenience sample of 37 women with healthy, term singletons who intended to breastfeed were recruited from 2 academic medical centers (one in the Midwest and the other in the Pacific Northeast) and surveyed during their birth hospitalizations between July and November 2016. Women were asked whether they received the 7 steps that are recommended to be implemented shortly after birth (eg, encourage breastfeeding on demand). We generated descriptive statistics and conducted independent chi‐square tests to determine associations between self‐reported exposure to these 7 practices and race and ethnicity.ResultsIn this sample, 23 women (62.2%) were non‐Hispanic white, 5 (13.5%) were non‐Hispanic black, and 6 (16.2%) were Hispanic. Approximately 26 (70.3%) reported experiencing at least 6 of the 7 practices. Non‐Hispanic white women were significantly more likely to room‐in with their newborns, were less likely to receive formula, and were less likely to receive pacifiers than women of other races and ethnicities (P < .05). Furthermore, differences in exposure to practices by maternal race/ethnicity appeared more pronounced at one center than the other.DiscussionPreliminary findings suggest that some practices used to improve breastfeeding may be provided inconsistently across maternal racial and ethnic groups. Additional investigation is needed to further explore these patterns and to identify reasons for any inconsistencies in order to reduce health disparities in the United States.
Quantitative Susceptibility Mapping: MRI at 7T versus 3T
Authors: Spincemaille Pascal , Anderson Julie , Wu Gaohong , Yang Baolian , Fung Maggie , Li Ke , Li Shaojun , Kovanlikaya Ilhami , Gupta Ajay , Kelley Douglas , Benhamo Nissim , Wang Yi 
Published: October 2019

ABSTRACTBACKGROUND AND PURPOSEUltrahigh‐field 7T promises more than doubling the signal‐to‐noise ratio (SNR) of 3T for magnetic resonance imaging (MRI), particularly for MRI of magnetic susceptibility effects induced by B0. Quantitative susceptibility mapping (QSM) is based on deconvolving the induced phase (or field) and would therefore benefit substantially from 7T. The purpose of this work was to compare QSM performance at 7T versus 3T in an intrascanner test‐retest experiment with varying echo numbers (5 and 10 echoes).METHODSA prospective study in N = 10 healthy subjects was carried out at both 3T and 7T field strengths. Gradient echo data using 5 and 10 echoes were acquired twice in each subject. Test‐retest reproducibility was assessed using Bland‐Altman and regression analysis of region of interest measurements. Image quality was scored by an experienced neuroradiologist.RESULTSIntrascanner bias was below 3.6 parts‐per‐billion (ppb) with correlation R2 > .85. Interscanner bias was below 10.9 ppb with correlation R2 > .8. The image quality score for the 3T 10 echo protocol was not different from the 7T 5 echo protocol (P = .65).CONCLUSIONExcellent image quality and good reproducibility was observed. 7T allows equivalent image quality of 3T in half of the scan time.
Polycystic ovary syndrome (PCOS) is associated with NASH severity and advanced fibrosis
Authors: Sarkar Monika , Terrault Norah , Chan Wesley , Cedars Marcelle I. , Huddleston Heather G. , Duwaerts Caroline C. , Balitzer Dana , Gill Ryan M. 
Published: October 2019

AbstractBackgroundPolycystic ovary syndrome (PCOS) affects 10% of reproductive‐aged women, and is marked by irregular menses and high androgens. PCOS is a known risk factor for imaging‐confirmed steatosis, and we now aim to evaluate whether PCOS influences histologic severity of non‐alcoholic fatty liver disease (NAFLD).MethodsRetrospective study of women ages 18‐45 years with biopsy‐confirmed NAFLD between 2008 and 2019. Metabolic comorbidities were captured within 6 months of biopsy. Histologic features of non‐alcoholic steatohepatitis (NASH) were independently evaluated by two pathologists blinded to PCOS status.ResultsAmong 102 women meeting study criteria, 36% (n = 37) had PCOS; median age was 35 years; 27% were white, 6% black, 19% Asian and 47% reported Hispanic ethnicity. Women with PCOS had higher LDL (122 vs 102 mg/dL, P = .05) and body mass index(BMI) (38 vs 33 kg/cm2, P < .01). NASH was present in 76% of women with PCOS vs 66% without PCOS (P = .3), and a higher proportion with PCOS had severe ballooning (32% vs 13%, P = .02), presence of any fibrosis (84% vs 66%, P = .06) and advanced fibrosis (16% vs 6%, P = .10). Adjusted for age and BMI, PCOS remained associated with severe hepatocyte ballooning (OR 3.4, 95% CI 1.1‐10.6, P = .03) and advanced fibrosis (OR 7.1, 95% CI 1.3‐39, P = .02). Among women with advanced fibrosis, median age was 5 years younger in those with as compared to those without PCOS (40 vs 45 years, P = .02).ConclusionPolycystic ovary syndrome is independently associated with more severe NASH, including advanced fibrosis. Hepatologists should routinely inquire about PCOS in reproductive‐aged women with NAFLD, and evaluate for more severe liver disease in this population.
Permanent immunosuppression in SLA/LP‐positive autoimmune hepatitis is required although overall response and survival are similar
Authors: Zachou Kalliopi , Weiler‐Normann Christina , Muratori Luigi , Muratori Paolo , Lohse Ansgar W. , Dalekos George N. 
Published: October 2019

AbstractBackground and aimsAntibodies against soluble liver antigen/liver pancreas (anti‐SLA/LP) are highly specific for autoimmune hepatitis (AIH) and have been linked with a more severe clinical course of the disease, frequent relapses after treatment withdrawal and worse outcome. To address definitely the clinical significance of anti‐SLA/LP, we investigated a large number of anti‐SLA/LP‐positive and ‐negative patients followed in three referral centres.MethodsProspectively collected data from 89 anti‐SLA/LP‐positive AIH patients (29 from Hamburg‐Germany, 20 from Bologna‐Italy and 40 from Larissa‐Greece) were analysed retrospectively. Age‐ and sex‐matched anti‐SLA/LP‐negative patients served as disease controls (n = 230; 1:2.5 ratio).ResultsIn respect to baseline characteristics, anti‐SLA/LP‐positive patients were more frequently asymptomatic compared to anti‐SLA/LP‐negative (P < .05). However, anti‐SLA/LP‐positive patients did not differ from anti‐SLA/LP‐negative in terms of the overall response to treatment, disease progression and survival even though, they were less likely to achieve corticosteroid withdrawal (P < .05), needed longer treatment duration to achieve first complete response (P < .001) and relapsed more frequently after treatment withdrawal compared to anti‐SLA/LP‐negative patients (P = <.001).ConclusionsWe showed that anti‐SLA/LP antibodies do not characterize a group of AIH patients with distinct features and cannot identify patients with a more severe form of the disease or worse survival. Most importantly, however, anti‐SLA/LP‐positive patients appear to require lifelong immunosuppression as they are less likely to achieve the cessation of corticosteroids and present higher relapse rates after treatment withdrawal. Therefore, close long‐term monitoring should be advised in all anti‐SLA/LP‐positive patients after withdrawal of immunosuppressive treatment.
Follicular occlusion disorders in Down syndrome patients
Authors: Firsowicz Maya , Boyd McKenna , Jacks Stephanie K. 
Published: October 2019

AbstractDisorders involving follicular occlusion, such as hidradenitis suppurativa, folliculitis, acneiform eruptions, and pilonidal cysts, have shown an increased prevalence in the Down syndrome (DS) population, but there are limited published data examining this association. We conducted a retrospective chart review of 243 DS patients presenting to a pediatric dermatology clinic to further examine the prevalence of disorders of follicular occlusion in DS patients. Our study showed high rates of disorders of follicular occlusion in DS patients, with prevalent disorders including folliculitis (21.0%), keratosis pilaris (17.3%), acne vulgaris (11.1%), hidradenitis suppurativa (7.0%), and furunculosis (4.5%), and overall prevalence of 44.9%. These findings add to a limited but growing body of evidence that documents an increased rate of disorders of follicular occlusion in pediatric DS patients.
Trust, regulation, and redistribution why some governments overregulate and under‐redistribute
Authors: Charron Nicholas , Harring Niklas , Lapuente Victor 
Published: October 2019

AbstractFor many social scientists, government intervention is linked to low levels of social trust and corruption, while others associate it with high trust and low corruption. We aim to reconcile these contrasting views by distinguishing the opposing effects of trust on two alternative types of government intervention: regulation and redistribution. We argue that distrusting individuals demand more governmental regulation (H1) but less government redistribution (H2), and this could be one of the mechanisms explaining why countries with low levels of trust tend to both overregulate and under‐redistribute. And the effects of trust on policy preferences are conditional on the quality of institutions. The higher the level of quality of government in a particular region, the more high‐trusting individuals will like government redistribution and dislike government regulation that restricts the operations of free markets (H3). We test these hypotheses with data from the latest round of the European Quality of Government Index (EQI) survey, which covers 77,000 individuals from 185 regions of 21 EU member states.
Mothers' interoceptive knowledge predicts children's emotion regulation and social skills in middle childhood
Authors: MacCormack Jennifer K. , Castro Vanessa L. , Halberstadt Amy G. , Rogers Megan L. 
Published: October 2019

AbstractInteroception, often defined as the perception of internal physiological changes, is implicated in many adult social affective processes, but its effects remain understudied in the context of parental socialization of children's emotions. We hypothesized that what parents know about the interoceptive concomitants of emotions, or interoceptive knowledge (e.g., “my heart races when excited”), may be especially relevant in emotion socialization and in supporting children's working models of emotions and the social world. We developed a measure of mothers' interoceptive knowledge about their own emotions and examined its relation to children's social affective outcomes relative to other socialization factors, including self‐reported parental behaviors, emotion beliefs, and knowledge of emotion‐relevant situations and non‐verbal expressions. To assess these, mothers (N = 201) completed structured interviews and questionnaires. A few months later, third‐grade teachers rated children's social skills and emotion regulation observed in the classroom. Results indicated that mothers' interoceptive knowledge about their own emotions was associated with children's social affective skills (emotion regulation, social initiative, cooperation, self‐control), even after controlling for child gender and ethnicity, family income, maternal stress, and the above maternal socialization factors. Overall, findings suggest that mothers' interoceptive knowledge may provide an additional, unique pathway by which children acquire social affective competence.