bluuebunny/crossref_metadata_2025_split huggingface dataset:
Genetic Architecture Associated With Familial Short Stature
Authors: Lin Ying-Ju , Cheng Chi-Fung , Wang Chung-Hsing , Liang Wen-Miin , Tang Chih-Hsin , Tsai Li-Ping , Chen Chien-Hsiun , Wu Jer-Yuarn , Hsieh Ai-Ru , Lee Ming Ta Michael , Lin Ting-Hsu , Liao Chiu-Chu , Huang Shao-Mei , Zhang Yanfei , Tsai Chang-Hai , Tsai Fuu-Jen 
Published: March 2020

Abstract

Context
Human height is an inheritable, polygenic trait under complex and multilocus genetic regulation. Familial short stature (FSS; also called genetic short stature) is the most common type of short stature and is insufficiently known.

Objective
To investigate the FSS genetic profile and develop a polygenic risk predisposition score for FSS risk prediction.

Design and Setting
The FSS participant group of Han Chinese ancestry was diagnosed by pediatric endocrinologists in Taiwan.

Patients and Interventions
The genetic profiles of 1163 participants with FSS were identified by using a bootstrapping subsampling and genome-wide association studies (GWAS) method.

Main Outcome Measures
Genetic profile, polygenic risk predisposition score for risk prediction.

Results
Ten novel genetic single nucleotide polymorphisms (SNPs) and 9 reported GWAS human height-related SNPs were identified for FSS risk. These 10 novel SNPs served as a polygenic risk predisposition score for FSS risk prediction (area under the curve: 0.940 in the testing group). This FSS polygenic risk predisposition score was also associated with the height reduction regression tendency in the general population.

Conclusion
A polygenic risk predisposition score composed of 10 genetic SNPs is useful for FSS risk prediction and the height reduction tendency. Thus, it might contribute to FSS risk in the Han Chinese population from Taiwan.
Clinical and Genetic Characterization of 153 Patients with Persistent or Transient Congenital Hyperinsulinism
Authors: Männistö Jonna M E , Maria Maleeha , Raivo Joose , Kuulasmaa Teemu , Otonkoski Timo , Huopio Hanna , Laakso Markku 
Published: March 2020

Abstract

Context
Major advances have been made in the genetics and classification of congenital hyperinsulinism (CHI).

Objective
To examine the genetics and clinical characteristics of patients with persistent and transient CHI.

Design
A cross-sectional study with the register data and targeted sequencing of 104 genes affecting glucose metabolism.

Patients
Genetic and phenotypic data were collected from 153 patients with persistent (n = 95) and transient (n = 58) CHI diagnosed between 1972 and 2015. Of these, 86 patients with persistent and 58 with transient CHI participated in the analysis of the selected 104 genes affecting glucose metabolism, including 10 CHI-associated genes, and 9 patients with persistent CHI were included because of their previously confirmed genetic diagnosis.

Main outcome measures
Targeted next-generation sequencing results and genotype–phenotype associations.

Results
Five novel and 21 previously reported pathogenic or likely pathogenic variants in ABCC8, KCNJ11, GLUD1, GCK, HNF4A, and SLC16A1 genes were found in 68% (n = 65) and 0% of the patients with persistent and transient CHI, respectively. KATP channel mutations explained 82% of the mutation positive cases.

Conclusions
The genetic variants found in this nationwide CHI cohort are in agreement with previous studies, mutations in the KATP channel genes being the major causes of the disease. Pathogenic CHI-associated variants were not identified in patients who were both diazoxide responsive and able to discontinue medication within the first 4 months. Therefore, our results support the notion that genetic testing should be focused on patients with inadequate response or prolonged need for medication.
Toward a Treatment Normalizing Ovulation Rate in Adolescent Girls With Polycystic Ovary Syndrome
Authors: Ibáñez Lourdes , Díaz Marta , García-Beltrán Cristina , Malpique Rita , Garde Edurne , López-Bermejo Abel , de Zegher Francis 
Published: March 2020

Abstract
Adolescent polycystic ovary syndrome (PCOS) is characterized by androgen excess and oligomenorrhea, and commonly driven by hepato-visceral fat excess (“central obesity”) ensuing from a mismatch between prenatal and postnatal nutrition, on a background of genetic susceptibility. There is no approved treatment for adolescent PCOS.
We report the pooled results of 2 pilot studies in nonobese girls with PCOS (N = 62, age 15.8 years) that compared the effects of randomized treatment for 1 year, either with an oral estro-progestogen contraceptive (OC), or with a low-dose combination of spironolactone-pioglitazone-metformin (SPIOMET, targeting the excess of ectopic fat).
Auxological and endocrine-metabolic variables (including fasting insulin, androgens, high-molecular-weight adiponectin [HMW-adiponectin], and microRNA [miR]-451a), body composition (dual x-ray absorptiometry) and hepato-visceral fat (magnetic resonance imaging) were assessed on- and posttreatment. Data from menstrual diaries were combined with weekly salivary progesterone measurements to infer ovulation rates during the second and fourth quarter of the posttreatment year.
OC and SPIOMET treatment reduced the androgen excess comparably, and had no differential effects on total-body lean or fat mass. However, SPIOMET was accompanied by more broadly normalizing effects, including on hepato-visceral fat and on circulating insulin, HMW-adiponectin, and miR-451a. On average, there were 3-fold more ovulations post-SPIOMET than post-OC; normovulation was only observed after SPIOMET; anovulation was &gt;10-fold more prevalent post-OC.
Pooled results of randomized studies in nonobese adolescent girls with PCOS indicate that SPIOMET treatment leads to an overall healthier, more insulin-sensitive condition—with less ectopic fat—than OC treatment, and to a more normal posttreatment ovulation rate.
Clinical Significance of the Maximum Body Mass Index Before Onset of Type 2 Diabetes for Predicting Beta-Cell Function
Authors: Ozawa Harutoshi , Fukui Kenji , Komukai Sho , Hosokawa Yoshiya , Fujita Yukari , Kimura Takekazu , Tokunaga Ayumi , Kozawa Junji , Iwahashi Hiromi , Shimomura Iichiro 
Published: March 2020

Abstract

Objective
This study aimed to clarify the clinical significance of the maximum body mass index (BMI) before the onset of type 2 diabetes (MBBO) for predicting pancreatic beta-cell function.

Methods
This was a cross-sectional observational study. Of 1304 consecutively admitted patients with type 2 diabetes, we enrolled 410 patients satisfying the criteria in this study. The correlations between the C-peptide index (CPI), which is one of the parameters that reflects beta-cell function, and various clinical parameters, including MBBO and duration of diabetes, were analyzed in multiple linear regression analyses.

Results
The analyses revealed that MBBO was correlated with CPI independently after adjustment for age, sex, HbA1c, and duration of diabetes. When we divided the subjects into three subgroups by MBBO (MBBO &lt; 25 kg/m2; 25 kg/m2 ≤ MBBO &lt; 30 kg/m2; MBBO ≥ 30 kg/m2), CPI was negatively correlated with duration of diabetes in each subgroup, while the rates of CPI based on the duration of diabetes were not different among the three MBBO subgroups. In contrast, the declining rates of CPI were higher in the BMI ≥ 25 kg/m2 group on admission than in the BMI &lt; 25 kg/m2 group on admission.

Conclusions
MBBO may be an independent factor correlating with beta-cell function and may predict insulin secretion capacity at diagnosis, but it does not seem to affect the rate of decline in insulin secretion capacity after diagnosis. It is important to preserve beta-cell function by decreasing a patient’s BMI during treatment after diagnosis regardless of MBBO.
Effects of Semaglutide Versus Dulaglutide on Epicardial Fat Thickness in Subjects with Type 2 Diabetes and Obesity
Authors: Iacobellis Gianluca , Villasante Fricke Alexandra C 
Published: March 2020

Abstract

Background and Aims
Epicardial adipose tissue (EAT), the visceral fat depot of the heart, is a modifiable cardio-metbolic risk factor and therapeutic target. Semaglutide and dulaglutide, glucagon-like peptide-1 (GLP-1) receptor agonists, are indicated for the treatment of type 2 diabetes mellitus (T2DM). GLP-1 receptor agonists have recently shown to reduce cardiovascular risk. Epicardial adipose tissue expresses GLP-1 receptors (GLP-1Rs). GLP-1 receptor agonist liraglutide is known to significantly decrease EAT thickness. However, the effects of GLP-1 receptor agonists semaglutide and dulaglutide on EAT thickness are unknown.

Materials and Methods
We performed a 12-week, controlled, parallel study in 80 subjects with T2DM and obesity. Patients received either semaglutide, up to 1 mg subcutaneous (sc) weekly, or dulaglutide, up to 1.5 mg sc weekly, as the standard of care in addition to their usual medication regimen. Twenty subjects with T2DM and obesity were started on metformin and a diet and served as the control group. Ultrasound-measured EAT thickness was measured at baseline and at the 12-week follow-up.

Results
Epicardial adipose tissue thickness significantly decreased in both semaglutide and dulaglutide groups (P &lt; 0.001) after 12 weeks, accounting for a 20% reduction. There was no EAT reduction in the metformin group. Body mass index (BMI) and HbA1c improved in all groups without reaching statistical significance. Epicardial adipose tissue thickness reduction was significantly greater (P &lt; 0.01) with the higher doses of semaglutide (1 mg) and dulaglutide (1.5 mg), respectively.

Conclusion
Weekly administration of either GLP-1 receptor agonists semaglutide or dulaglutide causes a rapid, substantial, and dose-dependent reduction in EAT thickness.
Factors That Influence Conversion to Resectability and Survival After Resection of Metastases in RAS WT Metastatic Colorectal Cancer (mCRC): Analysis of FIRE-3- AIOKRK0306
Authors: Modest Dominik Paul , Heinemann Volker , Folprecht Gunnar , Denecke Timm , Pratschke Johann , Lang Hauke , Bemelmans Marc , Becker Thomas , Rentsch Markus , Seehofer Daniel , Bruns Christiane J. , Gebauer Bernhard , Held Swantje , Stahler Arndt , Heinrich Kathrin , von Einem Jobst C. , Stintzing Sebastian , Neumann Ulf P. , Ricard Ingrid 
Published: March 2020

Abstract
Background
Tumor assessments after first-line therapy of RAS wild-type mCRC with cetuximab (cet) versus bevacizumab (bev) in combination with FOLFIRI were evaluated for factors influencing resectability, conversion to resectability, and survival after best response.

Methods
Conversion to resectability was defined as conversion of initially unresectable to resectable disease at best response as determined by retrospective assessment. Univariate and multivariate logistic models were fitted with resectability at best response as response variable. A Cox model comparing the survival from best response was used to measure the influence of treatment, resectability at best response, and resection. Interaction of resection and treatment arm on survival was tested by likelihood ratio test.

Results
Overall, 270 patients were evaluable (127 cet-arm, 143 bev-arm). Lung metastases (odds ratio [OR] 0.35, 95% confidence response [CI] 0.19–0.63), BRAF mutation (OR 0.33, 95% CI 0.12–0.82), and elevated alkaline phosphatase (OR 0.42, 95% CI 0.18–0.9) before randomization were associated with less chance of successful conversion and were integrated into a nomogram. Early tumor shrinkage (OR 1.86, 95% CI 1.06–3.3; p 0.034) and depth of response (OR 1.02, 95% CI 1.01–1.03; p < 0.001) were associated with successful conversion therapy. Resection of metastases improved post-best-response survival (hazard ratio 0.53, 95% CI 0.29–0.97; p = 0.039), predominantely in cet-treated patients (interaction test, p = 0.02).

Conclusions
Conversion to resectability is significantly associated with baseline characteristics that can be used in a nomogram to predict conversion. Moreover, early efficacy parameters (ETS and DpR) are associated with successful conversion therapy. In FIRE-3, resection of metastases was associated with improved post-best response survival, this effect originated predominantly from the cetuximab-based study arm.
The system of personnel training in the internal Affairs bodies of the Russian Federation
Authors: Serdyuk Natal'ya , Semchenko Aleksandr 
Published: March 2020

The article discusses the system of organization of training in the internal affairs bodies of Russia, substantiates the principles of its functioning. Object of study - continuing education of employees of the internal affairs bodies of the Russian Federation.
The subject of the study is the training system in the internal affairs bodies of the Russian Federation and methods for its optimization.
Research hypothesis: the construction and implementation of individual educational paths will help optimize the training system in the internal affairs bodies of the Russian Federation.
Methodology and research methods: general scientific theory of dialectic and historical materialism, acmeological, hermeneutic and situational-environmental methodological approaches; methods of content analysis of scientific literature and regulatory legal acts in the field of education, included observation, informal interviews, conversation, pedagogical experiment.
The theoretical significance lies in the analysis and assessment of the state of departmental training system for the internal affairs bodies of the Russian Federation and in determining ways to optimize it.
The practical significance lies in the analysis and interpretation of statistical data in the field of departmental education of the Ministry of Internal Affairs of Russia, and in this connection the justification of priority tasks in the near future.
The Staff Attitude to Coercion Scale (SACS) – Polish adaptation
Authors: Kiejna Andrzej , Jakubczyk Marta , Gondek Tomasz , Rajba Beata 
Published: March 2020

Cel pracyCelem badania było przygotowanie polskiej adaptacji kwestionariusza SACS. Skala ta jest narzędziem samooceny przeznaczonym do mierzenia stosunku pracowników do bezpośredniego przymusu wobec pacjentów oddziałów psychiatrycznych.MetodaPróba składała się z 120 pracowników 7 oddziałów psychiatrycznych. Kwestionariusz SACS to narzędzie stworzone w Norwegii przez Tonje Husum, składające się z 15 pozycji opisujących podejście pracowników psychiatrycznej służby zdrowia do bezpośredniego przymusu. Procedura walidacji obejmowała trzy podstawowe metody, które należy zastosować w analizie niezawodności - porównanie podwójnych testów za pomocą tej samej metody, statystyczną analizę właściwości pozycji testowych oraz analizę relacji pozycji i podskal z ogólnym wynikiem testu.WynikiPo badaniu pilotażowym typu "Think aloud" i adaptacji językowej oceniono rzetelność. Alfa Cronbacha w podskalach mieściła się w przedziale od 0,57 do 0,81, a dla ogólnego wyniku wynosiła 0,82. Najlepszym rozwiązaniem uzyskanym w eksploracyjnej analizie czynnikowej był model trójczynnikowy, prawie identyczny z oryginalnym, potwierdzający podział na trzy podskale: przymus jako urąganie pacjentowi (postawa krytyczna), opieka i bezpieczeństwo (postawa pragmatyczna) oraz forma leczenia (postawa pozytywna).WnioskiWłaściwości psychometryczne polskiej adaptacji kwestionariusza SACS są podobne do tych opisanych w wersji oryginalnej. Wyniki pozwalają uznać metodę za odpowiednią do potrzeb badań naukowych. Jednak dalsze analizy są konieczne, aby ocenić trafność i moc dyskryminacyjną w większych grupach badanych.
Polish version of the White Bear Suppression Inventory (WBSI) by Wegner and Zanakos: factor analysis and reliability
Authors: Cichoń Ewelina , Szczepanowski Remigiusz , Niemiec Tomasz 
Published: March 2020

Cel pracyCelem niniejszego badania była adaptacja polskiej wersji kwestionariusza White Bear Suppression Inventory (WBSI), stworzonego przez Wegnera i Zanakos [1] do pomiaru chronicznego tłumienia.MetodaPolska wersja skali WBSI została opracowana za pomocą procedury tłumaczenia zwrotnego. Dwieście czterdzieści sześć osób z populacji ogólnej wypełniło opracowany kwestionariusz. Następnie przeprowadzono analizę struktury czynnikowej skali WBSI. W końcowym etapie wykonano analizę rzetelności polskiej wersji WBSI oraz dwóch podskal, wchodzących w jej skład.WynikiPolska wersja narzędzia cechuje się zadowalającymi właściwościami psychometrycznymi. Wyniki eksploracyjnej analizy czynnikowej wykazały dwuczynnikową strukturę testu w postaci czynników takich jak tłumienie i intruzje. Zarówno wyniki obu czynników, jak również pomiar dokonywany za pomocą pełnej skali WBSI, wykazują bardzo wysoką rzetelność.WnioskiRzetelność polskiej wersji kwestionariusza WBSI jest porównywalna z wersją oryginalną. Analiza pozwoliła wyodrębnić nową podskalę, która może odnosić się do zjawiska doświadczania intruzji. Polska wersja skali WBSI charakteryzuje się bardzo dobrymi właściwościami psychometrycznymi i może być stosowana jako skala do oceny intruzji oraz tłumienia.
Polish adaptation of the Daily Heterosexist Experiences Questionnaire
Authors: Mijas Magdalena , Koziara Karolina 
Published: March 2020

Cel pracyCelem przeprowadzonego badania była adaptacja i weryfikacja psychometrycznych właściwości polskiej wersji Kwestionariusza Codziennych Doświadczeń Heteroseksizmu (Daily Heterosexist Experiences Questionnaire - DHEQ) stworzonego przez amerykański zespół pracujący pod kierunkiem Kimberly Balsam (2013). Zastosowany kwestionariusz w oryginalny sposób ujmuje przejawy uprzedzeń i dyskryminacji w codziennym funkcjonowaniu osób LGBT (lesbijek, gejów, osób biseksualnych i transpłciowych).MetodaW badaniu internetowym zgromadzono dane pochodzące od 197 osób LGBT. Średni wiek uczestników badania wyniósł 31 lat (M = 31,93; SD = 8,37). Blisko 17% (N = 33) osób określiło się jako transpłciowe, nieco ponad 19% (N = 38) jako nieheteroseksualne kobiety, podczas gdy pozostali uczestnicy (N = 127; 64%) opisali się jako homoseksualni, biseksualni lub panseksualni mężczyźni.WynikiNajwyższe średnie wyniki uzyskano w obrębie czynnika Zastępczej traumy, co sugeruje, że dowiadywanie się o przemocy i dyskryminacji dotykającej inne osoby LGBT jest ważnym stresorem w życiu osób LGBT. Innymi kluczowymi przejawami heteroseksizmu okazały się czynniki Wyobcowania oraz Czujności, które opisują uczucia samotności oraz wysiłek wkładany w ukrywanie tożsamości LGBT. Z wszystkich grup osoby transpłciowe okazały się w największym stopniu eksponowane na przejawy heteroseksizmu.WnioskiPolska adaptacja kwastionariusza DHEQ charakteryzuje się dobrymi właściwościami psychometrycznymi. Większość czynników kwestionariusza znajduje zastosowanie na gruncie polskim.
Occupational performance coaching: goal barriers and beneficial facilitators
Authors: Kahjoogh Mina Ahmadi , Kessler Dorothy , Khankeh Hamid Reza , Akbarfahimi Nazila , Hosseini Seyed Ali , Sanei Fatemeh , Havaei Naser 
Published: March 2020

Background/aimsOccupational performance coaching is a family-centred approach that helps mothers who have children with occupational performance challenges. This study sought to identify the barriers and facilitators to goal achievement and engagement with occupational performance coaching based on the experiences of mothers of children with cerebral palsy who were receiving occupational performance coaching.MethodsThis qualitative study was embedded within a randomised control trial. Twelve mothers of children with cerebral palsy who had received occupational performance coaching were interviewed using a semi-structured interview technique. Their responses were analysed using inductive content analysis.ResultsThe most important barriers to goal achievement and engagement with coaching were societal, family-related and mother-related factors. The facilitators were new resources, family cohesion, mother-related factors and child-related factors.ConclusionsDifferent factors can affect the outcomes of occupational performance coaching based on the viewpoint of mothers of children with cerebral palsy. Occupational therapists should consider societal, family and individual factors when using this intervention with clients.
Hyenas/hustlers: An Afrosur/realist reading of Touki Bouki (1973)
Authors: Moji Polo B. 
Published: March 2020

Abstract
Using Amir Baraka's conception of Afrosurrealism as a black aesthetic form that is imbricated with 'lived life', this article proposes an Afrosur/realist reading of Djibril Diop Mambéty's Touki Bouki ('The hyena's journey') (1973). I explore the trajectory of the iconic lovers Anta and Mory and their recourse to petty criminality as a means of escaping to Paris. I first consider how petty criminality or 'hustling' can be read in relation to Abdoumaliq Simone's notion of 'people as infrastructure' or a realistic reproduction of the African urban. I then turn my attention to Membéty's surrealist portrayal of Anta and Mory as 'hyenas' – or the archetypal figure of the stranger who poses a threat to the city's social order. Central to my analysis of the surreal as an expression of desire is the filmic reproduction of post-independence Dakar on-screen. I pay attention to place-identity, and the filmic depiction of nodes and modes of mobility as sites of potential disruption to the city as a form of social order. The article thus subverts and complicates the dichotomy between the real and the surreal as cinematic forms that reproduce the postcolonial African urban as both lived and imagined.
Melancholy freedom: Movement and stasis in Sibs Shongwe-La Mer's Necktie Youth (2015)
Authors: Wright Timothy 
Published: March 2020

Abstract
This article examines the 2015 art-film Necktie Youth (Sibs Shongwe-La Mer) with a view to understanding new affective, temporal and genre formations in post-transitional South Africa. A quasi-documentary portrait of ennui and depression among a circle of privileged 'born-free' youth in Johannesburg's wealthy suburbs, the film uses a coming-of-age narrative template to allegorize post-transitional South Africa. Yet this allegory is not a straightforward one of either disillusionment or progressivist maturation. Rather, it has something in common with David Scott's analysis of the 'ruined time' of post-revolution: an endless present haunted by the ghosts of futures past. I use Scott's lens to understand the floating, marooned temporalities of the film, whose deep melancholic undertow is at odds with its performance of youthful post-apartheid self-fashioning. Thus, despite its claims to inhabiting a 'new' historical phase, the film remains haunted by the ghosts of what Scott calls the 'allegory of emancipatory redemption'. I show how the film ultimately produces a sense of 'exile from history' – a mode in which key historical events have already happened and in effect overwhelm the present – and argue that this sensibility is key to understanding the contradictory temporalities of the present.