bluuebunny/crossref_metadata_2025_split huggingface dataset:
GLUT12 and adipose tissue: Expression, regulation and its relation with obesity in mice
Authors: Gil‐Iturbe Eva , Arbones‐Mainar José Miguel , Moreno‐Aliaga María J. , Lostao María Pilar 
Published: April 2019

AbstractAimThe facilitative glucose transporter GLUT12 was isolated from the breast cancer cell line MCF‐7 by its homology with GLUT4. GLUT12 is expressed in insulin‐sensitive tissues such as adipose tissue. The aim of this work was to investigate GLUT12 expression and hormonal regulation in 3T3‐L1 adipocytes and in adipose tissue of lean and diet‐induced obese mice.MethodsUptake studies were performed using radio‐labelled sugars; α‐methyl‐d‐glucose (αMG) was used as specific substrate of GLUT12. Expression and localization of GLUT12 in adipocytes were investigated by western blot and immunohistochemical methods.ResultsGLUT12 is expressed in the peri‐nuclear region of mouse adipocytes. Insulin, by AKT activation, and TNF‐α, by AMPK activation, increase αMG uptake by inducing GLUT12 translocation to the membrane. In contrast, leptin and adiponectin decrease GLUT12 activity through its internalization. Under hypoxia conditions GLUT12 expression is upregulated. The response of GLUT12 to TNF‐α, leptin, adiponectin and hypoxia is the opposite to that of GLUT4. In diet‐induced obese mice and obese subjects, GLUT12 protein is decreased. Intraperitoneal injection of insulin increases AKT phosphorylation and GLUT12 expression, but this effect is lost in obese animals.ConclusionWe hypothesize that GLUT12 would contribute to modulate sugar absorption in physiological and pathophysiological situations such as obesity.
Cyclicity in ridge patterns on the prograding coasts of Estonia
Authors: Suursaar Ülo , Kall Tarmo , Steffen Holger , Tõnisson Hannes 
Published: April 2019

Recent LiDAR surveys have revealed that on postglacially uplifting coasts of Estonia rhythmic coastal landforms (beach ridge sequences and foredune plains) occur to a considerable extent. We studied four of them to reveal age and periodicity in these multiple ridge systems and discussed their genesis in the Subatlantic (semi‐continental) conditions of the Baltic Sea area. Using recent models of Fennoscandian uplift due to glacial isostatic adjustment (GIA), we constructed Holocene apparent sea level curves for the study sites at Õngu, Mänspe, Haldi and Keibu; converted distance–height shore profiles into time series (including corrections on shore profile non‐linearity and variations in GIA‐eustasy balance); and analysed the patterns using spectral analysis. It was suggested that due to non‐tidal conditions, relatively low‐energy hydrodynamic forcing and small aeolian contribution, the ridges mark ancient shorelines. They are relatively modest in height (mostly 0.2–1 m), form regular and extensive (up to 150 ridges) patterns, and date back to ~9000 years before present. We studied <5‐ka‐old sections. The mean ridge spacing varied, depending also on coastal slope, between 21 and 39 m. Both simple counting and spectral analysis involved some specific limitations, yet the estimates for typical spacing were alike, at 32 (±5) years. The regular nature of the low‐ridge patterns originated from relative sea level lowering and gradual sediment accretion/erosion. However, the progradation was rather uplift‐ than accretion‐driven and the stepwise process in ridge formation was probably not autocyclic. It was governed or modulated by quasi‐periodic 25–40 year cyclicity in local wave forcing, relative sea level variations and wind conditions. Being most likely connected to the North Atlantic Oscillation, the quasi‐regular, decadal‐scale, similarly phased variations may magnify each other's effect on the westerly exposed coasts of Estonia. Additionally, some other (e.g. event‐driven) mechanisms may also be present.
Adrenal morphology and associated comorbidities in congenital adrenal hyperplasia
Authors: El‐Maouche Diala , Hannah‐Shmouni Fady , Mallappa Ashwini , Hargreaves Courtney J. , Avila Nilo A. , Merke Deborah P. 
Published: April 2019

AbstractObjectiveAdrenonodular hyperplasia and tumour formation are potential long‐term complications of congenital adrenal hyperplasia (CAH) with little known regarding the clinical implications. Our aim was to describe volumetric adrenal morphology and determine the association between radiological findings and comorbidities in adults with classic CAH.DesignThis was a cross‐sectional study of 88 patients (mean age 29.2 ± 13 years, 47 females) with classic CAH seen in a tertiary referral centre.MethodsCT imaging, performed at study entry or when reaching adulthood, was used to create 3‐dimensional volumetric models. Clinical, genetic and hormonal evaluations were collected and correlated with adrenal morphology and tumour formation.ResultsOver one‐third of the cohort was obese. 53% had elevated 17‐OH‐progesterone or androstenedione; and 60% had adrenal hyperplasia. Tumours included 11 myelolipomas, 8 benign adrenocortical adenomas, 1 pheochromocytoma and 50% of men had testicular adrenal rest tissue. CAH patients with adrenal hyperplasia had significantly higher number of comorbidities than those with morphologically normal adrenals (P = 0.03). Variables that positively correlated with adrenal volume included hypogonadal/oligomenorrhoeic status, hypertension, androstenedione, aldosterone, and triglyceride levels, and in women, low HDL and insulin resistance. Elevated aldosterone was observed in a subset of patients with simple virilizing CAH.ConclusionsAdrenocortical hyperplasia is associated with a number of comorbidities, especially hypogonadism. Aldosterone production associated with adrenal enlargement may play a role in the development of metabolic risk factors. Further studies are needed to assess the long‐term impact of the excess adrenal steroid milieu associated with adrenal enlargement to develop improved management strategies for CAH.
The clinical presentation caused by truncating CHD8 variants
Authors: Douzgou Sofia , Liang Hui Wen , Metcalfe Kay , Somarathi Suresh , Tischkowitz Marc , Mohamed Wafik , Kini Usha , McKee Shane , Yates Laura , Bertoli Marta , Lynch Sally Ann , Holder Susan ,   the Deciphering Developmental Disorders Study, Banka Siddharth 
Published: April 2019

AbstractVariants in the chromodomain helicase DNA‐binding protein 8 (CHD8) have been associated with intellectual disability (ID), autism spectrum disorders (ASDs) and overgrowth and CHD8 is one of the causative genes for OGID (overgrowth and ID). We investigated 25 individuals with CHD8 protein truncating variants (PTVs), including 10 previously unreported patients and found a male to female ratio of 2.7:1 (19:7) and a pattern of common features: macrocephaly (62.5%), tall stature (47%), developmental delay and/or intellectual disability (81%), ASDs (84%), sleep difficulties (50%), gastrointestinal problems (40%), and distinct facial features. Most of the individuals in this cohort had moderate‐to‐severe ID, some had regression of speech (37%), seizures (27%) and hypotonia (27%) and two individuals were non‐ambulant. Our study shows that haploinsufficiency of CHD8 is associated with a distinctive OGID syndrome with pronounced autistic traits and supports a sex‐dependent penetrance of CHD8 PTVs in humans.
An overview of the genetic basis of epidermolysis bullosa in Brazil: discovery of novel and recurrent disease‐causing variants
Authors: Mariath Luiza M. , Santin Juliana T. , Frantz Jeanine A. , Doriqui Maria J.R. , Kiszewski Ana E. , Schuler‐Faccini Lavínia 
Published: April 2019

AbstractEpidermolysis bullosa (EB) is a genodermatosis that encompasses a group of clinically and genetically heterogeneous disorders classified in four major types: EB simplex (EBS), junctional EB (JEB), dystrophic EB (DEB) and Kindler syndrome. Our aim was to characterize recurrent and novel mutations associated to EB in a sample of Brazilian patients. Eighty‐seven patients (25 EBS, 4 JEB and 58 DEB) were studied. We performed a next‐generation sequencing‐based multigene panel through ion torrent technology including 11 genes: KRT5, KRT14, PLEC, TGM5, LAMA3, LAMB3, LAMC2, COL17A1, ITGB4, COL7A1, and FERMT1. A total of 72 different pathogenic or likely pathogenic variants were identified, 32 of them are novel. The causal variant was detected in 82 patients (efficiency of 94.3%). Pathogenic variants in the residue 125 of KRT14 were identified in 32% of all EBS patients. In DEB patients, four COL7A1 variants were quite frequent, some of them clustered in specific Brazilian regions. Our study extends the spectrum of known mutations in EB and describes, for the first time, the genetic profile of EB patients from Brazil.
Caucasian Mediterranean patients seeking rhinoplasty—Anthropometric measurements and prevalence of major deformities
Authors: Santos Mariline , Monteiro Daniel , Coutinho Miguel , e Sousa Cecília Almeida , Ferreira Miguel Gonçalves 
Published: April 2019

AbstractObjectiveTo describe the average values of the nasal anthropometric measurements of Caucasian Mediterranean patients seeking rhinoplasty and evaluate the major nasal deformities.DesignProspective, observational and cross‐sectional study.SettingCentro Hospitalar do Porto.ParticipantsA 100 Caucasian Mediterranean patients seeking rhinoplasty.OutcomesStandardized photography was used to obtain nasal anthropometric measurements and to evaluate the major nasal defects. Data regarding age, gender, skin type and Fitzpatrick scale were also collected.ResultsThere was a statistically significant difference in the means values of palpebral fissure, intercanthal width, upper lip height, nasal root width, morphological nose width, nose height, nasal tip projection and nasofrontal–hump and nasofrontal–supratip angles between females and males. The major nasal deformity was dorsal hump (78.0%), followed by rinomegalia (53.0%) and boxy bulbous tip (47.0%).ConclusionThe present study shows statistically significant gender differences between anthropometric nasal measurements and the mean values are greater than standard values obtained on general population. This might be one of the reasons why Caucasian Mediterranean patients seek aesthetical rhinoplasty. On both genders, dorsal hump, rinomegalia and boxy bulbous tip were the major nasal defects. This emphasize the importance of rhinoplasty techniques designed to reconstruct nasal dorsum and nasal tip on Caucasian Mediterranean patients. To the best of our knowledge, our study is the first study of digital anthropometric nasal analysis and evaluation of major nasal defects specifically in Caucasian Mediterranean patients who applied for rhinoplasty. With this results, we provide a reference material for the evaluation of the Caucasian and Mediterranean patient when planning a cosmetic nasal surgery.
Perceptions of a curriculum vitae clinic for conservation science students
Authors: Januchowski‐Hartley Stephanie R. , Mantel Sukhmani K. , Barber‐James Helen M. , Celi Jorge , Olden Julian D. , Piccolo John J. , Hermoso Virgilio 
Published: April 2019

AbstractWe led a curriculum vitae (CV) clinic aimed at student participants attending the 28th International Congress for Conservation Biology (ICCB 2017) in Cartagena, Colombia. The CV Clinic was a pilot program consisting of resources to assist with developing an effective CV and involving preconference and at‐conference reviews of student attendees' CVs. Here, we explore our experiences in organizing the CV Clinic as well as nonparticipant and participant perceptions of the clinic. We used an online standardized interview form to gather qualitative data on nonparticipant and participant perceptions of the CV Clinic, and to explore how such a CV Clinic program could best align with student needs. Most respondents who submitted their CV for review ahead of ICCB 2017 (n = 9) found the template and guidance useful. Half of the respondents who did not participate in the CV Clinic perceived the clinic as duplicating services provided by their academic institutions. Both participant and nonparticipant respondents perceived value in such a CV Clinic, but also believed that adjustments could be made to make the CV review part of a broader professional development program lead by Society for Conservation Biology (SCB). Key lessons learned from the CV Clinic include the need to: (a) document and evaluate professional development initiatives within SCB; (b) better understand and account for the diversity of student needs before program creation; and (c) pilot and evaluate appropriateness of different locations, frequency, and duration of professional development programs.
Vaccination of solid organ transplant candidates and recipients: Guidelines from the American society of transplantation infectious diseases community of practice
Authors: Danziger‐Isakov Lara , Kumar Deepali ,   The AST ID Community of Practice
Published: April 2019

AbstractThese updated guidelines of the AST IDCOP review vaccination of solid organ transplant candidates and recipients. General principles of vaccination as well as the use of specific vaccines in this population are discussed. Vaccination should be reviewed in the pre‐transplant setting and appropriate vaccines updated. Both inactivated and live vaccines can be given pre‐transplant. The timing of vaccination post‐transplant should be taken into account. In the post‐transplant setting, inactivated vaccines can be administered starting at 3 months post‐transplant with the exception of influenza which can be given as early as one month. Inactivated vaccines can be safely administered post‐transplant. There is accumulating data that live‐attenuated vaccines can also be given to select post‐transplant patients. Close contacts of transplant patients can receive most routine live vaccines. Specific vaccines including pneumococcal, influenza, hepatitis B, HPV, and meningococcal vaccines are discussed. Newer vaccines for seasonal influenza vaccine and herpes zoster are highlighted. Live‐attenuated vaccines such as measles, mumps, rubella, and varicella are also discussed. Emerging data on live‐attenuated vaccines post‐transplant are highlighted.
Obstructive sleep apnoea in Type 2 diabetes mellitus: increased risk for overweight as well as obese people included in a national primary care database analysis
Authors: Feher M. , Hinton W. , Munro N. , de Lusignan S. 
Published: April 2019

AbstractAimsTo determine obstructive sleep apnoea prevalence in people with Type 2 or Type 1 diabetes in a national primary care setting, stratified by BMI category, and to explore the relationship between patient characteristics and obstructive sleep apnoea.MethodsUsing the Royal College of General Practitioners Research and Surveillance Centre database, a cross‐sectional analysis was conducted. Diabetes type was identified using a seven‐step algorithm and was grouped by Type 2 diabetes, Type 1 diabetes and no diabetes. The clinical characteristics of these groups were analysed, BMI‐stratified obstructive sleep apnoea prevalence rates were calculated, and a multilevel logistic regression analysis was completed on the Type 2 diabetes group.ResultsAnalysis of 1 275 461 adult records in the Royal College of General Practitioners Research and Surveillance Centre network showed that obstructive sleep apnoea was prevalent in 0.7%. In people with Type 2 diabetes, obstructive sleep apnoea prevalence increased with each increasing BMI category, from 0.5% in those of normal weight to 9.6% in those in the highest obesity class. By comparison, obstructive sleep apnoea prevalence rates for these BMI categories in Type 1 diabetes were 0.3% and 4.3%, and in those without diabetes 1.2% and 3.9%, respectively. Obstructive sleep apnoea was more prevalent in men than women in both diabetes types. When known risk factors were adjusted for, there were increased odds ratios for obstructive sleep apnoea in people with Type 2 diabetes in the overweight and higher BMI categories.ConclusionsObstructive sleep apnoea was reported in people with both types of diabetes across the range of overweight categories and not simply in the highest obesity class.
Preferences of people with Type 2 diabetes for diabetes care: a discrete choice experiment
Authors: Hertroijs D. F. L. , Elissen A. M. J. , Brouwers M. C. G. J. , Hiligsmann M. , Schaper N. C. , Ruwaard D. 
Published: April 2019

AbstractAimsLimited knowledge exists on the preferences of people with Type 2 diabetes towards diabetes care. Consequently, these care preferences cannot yet be considered in the development of tailored diabetes care approaches. Therefore, this study aimed to assess care preferences and their determinants in people with Type 2 diabetes.MethodsA discrete choice experiment was conducted to elicit people's preferences. People with Type 2 diabetes, treated in 30 Dutch primary care practices, were asked to choose repeatedly between two hypothetical diabetes care packages, which differed in six attributes: role division in daily diabetes care planning, lifestyle education method, type of medication management support, consultation frequency, emotional support and time spend on self‐management. A mixed‐logit model was used to estimate the relative importance of the included attributes. Preference heterogeneity among people with different person‐ and disease‐related characteristics was investigated.ResultsIn total, 288 participants completed the experiment. They preferred to plan their daily diabetes care together with a healthcare provider, to receive individual lifestyle education, medication and emotional support from a healthcare provider, one consultation visit every 3 months and to spend less time on self‐management. Participants did not prefer to receive emotional support from a psychologist. Heterogeneity in preferences could partly be explained by differences in sex, education level and glucose‐lowering drug use.ConclusionPeople with Type 2 diabetes show a preference for traditional care models. Emotional support was identified by participants as the most important attribute. It is therefore important to adequately guide them when changes in diabetes care organization are implemented.
A heterozygous protein‐truncating RFX6 variant in a family with childhood‐onset, pregnancy‐associated and adult‐onset diabetes
Authors: Akiba K. , Ushijima K. , Fukami M. , Hasegawa Y. 
Published: April 2019

AbstractBackgroundRecently, heterozygous RFX6 mutations including p.Arg377Ter were identified in individuals with maturity‐onset diabetes of the young (MODY). Clinical analysis of 36 individuals suggested that RFX6 mutation‐induced MODY is characterized by low penetrance and relatively late onset. However, given the small number of previous reports and the limited clinical information of each case, further studies are necessary to clarify the phenotypic characteristics of RFX6 mutations.Case reportWe identified a previously reported p.Arg377Ter variant of RFX6 in a three‐generation family with diabetes. The variant was detected through mutation screening for 30 diabetes‐associated genes. The variant was not found in public databases and was predicted to encode a truncated protein or undergo nonsense‐mediated mRNA decay. The proband showed glycosuria from 8 years of age and was diagnosed with MODY at 10 years of age, before the onset of puberty. She received basal and bolus insulin injection as initial therapy. The proband's mother exhibited glycosuria at 26 years of age when she conceived the first child. The mother was treated with insulin, oral hypoglycaemic drugs and diet. The proband and her mother were negative for islet cell autoantibodies. The maternal grandmother showed glycosuria around 50 years of age and was treated with oral hypoglycaemic drugs alone.ConclusionThis study provides supporting evidence for the causal relationship between heterozygous RFX6 mutations and MODY. Furthermore, our results indicate that phenotypic consequences of RFX6 mutations are highly variable even within a single family, and possibly include childhood‐onset and pregnancy‐associated non‐autoimmune diabetes.
The extent to which statins have improved cardiovascular outcomes: Lessons from randomized trials and observational studies of “real world” practice in people with diabetes
Authors: Bengaluru Jayanna Manju , Robinson Jennifer G. 
Published: April 2019

Statins are the mainstay of therapy for cardiovascular risk reduction in patients with diabetes mellitus. It is estimated that there are more than half a billion patients with diabetes mellitus worldwide and the numbers of prevalent cases of diabetes are expected to increase in both developed and developing countries in the next decade. Statins reduce risk of mortality and morbidity mainly by reducing blood low density cholesterol. Statins, along with other medical treatments, are responsible for about half of the decrease in cardiovascular mortality over the past several decades.Multiple clinical trials have found evidence for statin use in patients with diabetes, for both primary prevention and secondary prevention. The benefit of statins in patients with coronary heart disease and diabetes in terms of absolute risk reduction is twice as much as compared to the risk in patients with coronary heart disease but no diabetes. The proportion of patients with diabetes treated with statins has increased steadily over the past few decades with concurrent decrease in cardiovascular deaths in this high‐risk population. However, there are significant unmet needs in cardiovascular risk reduction, due to underutilization of statins and due to residual cardiovascular risk despite maximal statin therapy. Future strategies in population risk reduction in diabetics should include maximal statin therapy, additional treatment with nonstatin therapy and new paradigms of prevention with early intervention with shorter, more intensive therapy to potentially “reverse” atherosclerosis with goals of reducing clinical cardiovascular disease later in life.
The Issue of Citizenship for the Bidun Minority in Kuwait after the Arab Spring
Authors: Cohen Ronen A. , Keinan‐Cohen Yael 
Published: April 2019

AbstractKuwait is a country in which there are many tribes but it is the al‐U'zam tribe which is very dominant and influential in local politics and the economy, in contrast to the other tribes in Kuwait who are recognized by the state as being equal, but have little influence in these things. The Bedouin tribes, such as the Bidun society in Kuwait, who have been excluded from nationality and citizenship and thus have no influence, are an exception. The Kuwaiti government claims that the Bidun themselves gave up these rights so as not to be part of the Kuwaiti state and this has resulted in the Kuwaiti government not granting them any formal economic, political, or social rights. Because of this, the Bidun have had to fight for their rights for decades since the formal establishment of an independent Kuwait in 1961. This article wishes to discuss whether the question of the Kuwaiti refusal to recognize the Bidun as citizens is because of geostrategic reasons, because of the fear of creating a precedent that might lead to the inclusion of other tribes into the Kuwaiti state, or because this is a traditional political strategy for dealing with politically weak tribes.