bluuebunny/crossref_metadata_2025_split huggingface dataset:
Lessons From Prospective Longitudinal Follow-up of a French APECED Cohort
Authors: Humbert Linda , Proust-Lemoine Emmanuelle , Dubucquoi Sylvain , Kemp Elisabeth Helen , Saugier-Veber Pascale , Fabien Nicole , Raymond-Top Isabelle , Cardot-Bauters Catherine , Carel Jean-Claude , Cartigny Maryse , Chabre Olivier , Chanson Philippe , Delemer Brigitte , Do Cao Christine , Guignat Laurence , Kahn Jean Emmanuel , Kerlan Veronique , Lefebvre Herve , Linglart Agnès , Mallone Roberto , Reynaud Rachel , Sendid Boualem , Souchon Pierre-François , Touraine Philippe , Wémeau Jean-Louis , Vantyghem Marie-Christine 
Published: April 2024

Abstract

Background
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome is a rare disease caused by biallelic mutations of the AIRE gene, usually presenting with the triad hypoparathyroidism-adrenal failure-chronic mucocutaneous candidiasis (CMC) and nonendocrine manifestations. The aim of this study was to determine the molecular profile of the AIRE gene, the prevalence of rare manifestations, and to characterize immunological disturbances in a French cohort.

Patients and Methods
A national, multicenter prospective observational study to collect genetic, clinical, biological, and immunological data (NCT03751683).

Results
Twenty-five patients (23 families) were enrolled. Eleven distinct AIRE variants were identified, 2 of which were not previously reported: an intronic variant, c.653-70G &gt; A, and a c.1066del (p.Arg356GlyfsX22) variant (exon 9). The most common was the Finnish variant c.769C &gt; T (16 alleles), followed by the variant c.967_979del13 (15 alleles), which seemed associated with a less severe phenotype. Seventeen out of 25 patients were homozygote. The median number of clinical manifestations was 7; 19/25 patients presented with the hypoparathyroidism-adrenal failure-CMC triad, 8/13 showed pulmonary involvement, 20/25 had ectodermal dystrophy, 8/25 had malabsorption, and 6/23 had asplenia. Fifteen out of 19 patients had natural killer cell lymphopenia with an increase in CD4+ and CD8+ T lymphocytes and an age-dependent alteration of B lymphocyte homeostasis compared with matched controls (P &lt; .001), related to the severity of the disease. All tested sera (n = 18) were positive for anti-interferon-α, 15/18 for anti-IL-22 antibodies, and 13/18 for anti-IL-17F antibodies, without clear phenotypic correlation other than with CMC.

Conclusion
This first prospective cohort showed a high AIRE genotype variability, with 2 new gene variants. The prevalence of potentially life-threatening nonendocrine manifestations was higher with systematic screening. These manifestations could, along with age-dependent B-cell lymphopenia, contribute to disease severity. Systematic screening for all the manifestations of the syndrome would allow earlier diagnosis, supporting vaccination and targeted therapeutic approaches.
Bisphosphonates Maintain BMD After Sequential Teriparatide and Denosumab in Premenopausal Women with Idiopathic Osteoporosis
Authors: Kamanda-Kosseh Mafo , Shiau Stephanie , Agarwal Sanchita , Kondapalli Ananya , Colon Ivelisse , Kil Nayoung , Bucovsky Mariana , Lappe Joan M , Stubby Julie , Shane Elizabeth , Cohen Adi 
Published: April 2024

Abstract

Context
We previously reported that sequential teriparatide followed by denosumab substantially increases bone mineral density (BMD) in premenopausal idiopathic osteoporosis (PremenIOP).

Objective
To determine whether administration of bisphosphonates after denosumab cessation is associated with stable BMD in PremenIOP

Design
Open-label extension study.

Participants
Twenty-four PremenIOP Teriparatide-Denosumab Study participants.

Interventions
Oral alendronate (ALN), 70 mg weekly, or intravenous zoledronic acid (ZOL), 5 mg once (patient choice), was administered 7 months (M) after final denosumab dose.

Outcomes
BMD by dual-energy x-ray absorptiometry and serum C-telopeptide (CTX) q6M; Vertebral Fracture Assessment (VFA), and high-resolution peripheral quantitative computed tomography (HR-pQCT) q12 M.

Results
Twenty-four women with PremenIOP (aged 43 ± 8 years), severely affected with low trauma adult fractures (range 0-12; 9 with vertebral fractures) and/or very low BMD, had large BMD increases on sequential teriparatide-denosumab (spine: 25 ± 9%; total hip: 11 ± 6%). During the Bisphosphonate Extension, mean BMD and CTX changes in the entire group were small and not statistically significant at 6 or 12 M.
Women choosing ZOL (n = 6) vs ALN (n = 18) did not differ by baseline age, body mass index, fractures, BMD, or CTX. On ZOL, there were small lumbar spine BMD declines and CTX increases, particularly between 6 M and 12 M, while greater stability was observed on ALN.
Changes in BMD and CTX did not differ by duration of denosumab (36 M vs &lt;36 M) or between 20 women who remained premenopausal and 4 who transitioned into menopause. Higher pre-teriparatide CTX, likely reflecting baseline remodeling status, predicted more spine and hip bone loss. No new vertebral (clinical or vertebral fraction assessment screening) or nonvertebral fractures occurred.

Conclusion
BMD remained stable in women with PremenIOP who received bisphosphonates after sequential teriparatide-denosumab therapy.
Metabolic Effects of Testosterone Added to Intensive Lifestyle Intervention in Older Men With Obesity and Hypogonadism
Authors: Gonzalez-Gil Adrian M , Barnouin Yoann , Celli Alessandra , Viola Viola , Villarreal Marcos D , Duremdes Nava Maria Liza , Sciuk Adam , Qualls Clifford , Armamento-Villareal Reina , Villareal Dennis T 
Published: April 2024

Abstract

Background
Whether testosterone replacement therapy (TRT) conveys additional cardiometabolic benefit to an intensive lifestyle therapy (LT) in older men with obesity and hypogonadism remains unclear.

Objective
To determine whether TRT augments the effect of LT on metabolic outcomes in older men with obesity and hypogonadism.

Design
Secondary analysis of a randomized, double-blind, placebo-controlled trial.

Setting
Veterans Affairs Medical Center.

Participants
Eighty-three older (age ≥ 65 years) men with obesity (body mass index ≥ 30 kg/m2) and persistently low Am testosterone (&lt; 10.4 nmol/L) associated with frailty.

Interventions
LT (weight management and exercise training) plus either testosterone (LT + TRT) or placebo (LT + Pbo) for 6 months.

Outcome Measures
The primary outcome was change in glycated hemoglobin (HbA1c). Secondary outcomes included changes in other glucometabolic and lipid profile components, liver enzymes, inflammatory markers, and adipokines; subcutaneous, visceral, intramuscular, and hepatic fat; blood pressure; and metabolic syndrome score.

Results
HbA1c decreased similarly in LT + TRT and LT + Pbo groups (−0.5 ± 0.1 vs −0.6 ± 0.1%, respectively; P = 0.35). While TRT showed no synergistic effect with LT on ameliorating secondary outcomes, it eliminated the augmentative effect of LT on high-density lipoprotein cholesterol concentration (5.4 ± 1.0 mg/dL in the LT + Pbo group vs 0.2 ± 1.1 mg/dL in the LT + TRT group, P = .01) and adiponectin levels (−408 ± 489 ng/mL in LT + TRT group vs 1832 ± 468 ng/mL in LT + Pbo group, P = .02).

Conclusion
In older men with obesity and hypogonadism, adding TRT for 6 months to LT does not result in further improved cardiometabolic profiles and could potentially blunt some of the metabolic benefits induced by LT.
Clomiphene Citrate Administered in Periconception Phase Causes Fetal Loss and Developmental Impairment in Mice
Authors: Chin Peck Y , Chan Hon Yeung , Kieffer Tom E C , Prins Jelmer R , Russell Darryl L , Davies Michael J , Robertson Sarah A 
Published: April 2024

Abstract
Clomiphene citrate is a common treatment for ovulation induction in subfertile women, but its use is associated with elevated risk of adverse perinatal outcomes and birth defects. To investigate the biological plausibility of a causal relationship, this study investigated the consequences in mice for fetal development and pregnancy outcome of periconception clomiphene citrate administration at doses approximating human exposures. A dose-dependent adverse effect of clomiphene citrate given twice in the 36 hours after mating was seen, with a moderate dose of 0.75 mg/kg sufficient to cause altered reproductive outcomes in 3 independent cohorts. Viable pregnancy was reduced by 30%, late gestation fetal weight was reduced by 16%, and ∼30% of fetuses exhibited delayed development and/or congenital abnormalities not seen in control dams, including defects of the lung, kidney, liver, eye, skin, limbs, and umbilicus. Clomiphene citrate also caused a 30-hour average delay in time of birth, and elevated rate of pup death in the early postnatal phase. In surviving offspring, growth trajectory tracking and body morphometry analysis at 20 weeks of age showed postweaning growth and development similar to controls. A dysregulated inflammatory response in the endometrium was observed and may contribute to the underlying pathophysiological mechanism. These results demonstrate that in utero exposure to clomiphene citrate during early pregnancy can compromise implantation and impact fetal growth and development, causing adverse perinatal outcomes. The findings raise the prospect of similar iatrogenic effects in women where clomiphene citrate may be present in the periconception phase unless its use is well-supervised.
What Is This “Tranquility”? A Reply to Nelson
Authors: Cristiano Carlo 
Published: April 2024

Abstract
In a note appearing in the August 2024 issue of History of Political Economy (HOPE), Edward Nelson argues that a passage commenting on James Forder's Macroeconomics and the Phillips Curve Myth (2014) in a 2023 HOPE article by Carlo Cristiano titled “The Early Reception of the Phillips Curve in the United Kingdom” would provide a false characterization of the economic literature and claims priority in affirming that UK policymakers did not use the Phillips curve as a menu for policy. It is shown in this reply that Nelson's reading of Cristiano's 2023 article, and more specifically of the passage commenting on Forder's 2014 book, is based on a misunderstanding. The purpose of the 2023 article was not to show that UK policymakers did not use the Phillips trade-off as a menu for policy. In that article, consensus on this point is taken for granted. It is also argued in this reply that there is no need to mention Nelson's works to affirm that UK policymakers did not use the Phillips trade-off as a policy menu and that Nelson's works are indeed very relevant, but for other reasons.
The Making of Informational Efficiency: Information Policy and Theory in Interwar Agricultural Economics
Authors: Delcey Thomas , Noblet Guillaume 
Published: April 2024

Abstract
This article offers a historical analysis of American interwar agricultural economists and their interest in information. Believing that the main problem facing farmers was a lack of information, agricultural economists designed an information policy aiming to produce, format, and disseminate information. Using administrative archives, the article analyzes the motivations of these economists and the implementation of this policy. As the article shows, the policy was a prerequisite for theoretical discussions about information, and it established institutional tools that are still used today, such as the USDA market news service.
γ-TuRCs and the augmin complex are required for the development of highly branched dendritic arbors in Drosophila
Authors: Mukherjee Amrita , Andrés Jeske Yaiza , Becam Isabelle , Taïeb Anaelle , Brooks Paul , Aouad Joanna , Monguillon Clementine , Conduit Paul T. 
Published: April 2024

ABSTRACT
Microtubules are nucleated by γ-tubulin ring complexes (γ-TuRCs) and are essential for neuronal development. Nevertheless, γ-TuRC depletion has been reported to perturb only higher-order branching in elaborated Drosophila larval class IV dendritic arborization (da) neurons. This relatively mild phenotype has been attributed to defects in microtubule nucleation from Golgi outposts, yet most Golgi outposts lack associated γ-TuRCs. By analyzing dendritic arbor regrowth in pupae, we show that γ-TuRCs are also required for the growth and branching of primary and secondary dendrites, as well as for higher-order branching. Moreover, we identify the augmin complex (hereafter augmin), which recruits γ-TuRCs to the sides of pre-existing microtubules, as being required predominantly for higher-order branching. Augmin strongly promotes the anterograde growth of microtubules in terminal dendrites and thus terminal dendrite stability. Consistent with a specific role in higher-order branching, we find that augmin is expressed less strongly and is largely dispensable in larval class I da neurons, which exhibit few higher-order dendrites. Thus, γ-TuRCs are essential for various aspects of complex dendritic arbor development, and they appear to function in higher-order branching via the augmin pathway, which promotes the elaboration of dendritic arbors to help define neuronal morphology.
A working model for the formation of Robertsonian chromosomes
Authors: Gerton Jennifer L. 
Published: April 2024

ABSTRACT
Robertsonian chromosomes form by fusion of two chromosomes that have centromeres located near their ends, known as acrocentric or telocentric chromosomes. This fusion creates a new metacentric chromosome and is a major mechanism of karyotype evolution and speciation. Robertsonian chromosomes are common in nature and were first described in grasshoppers by the zoologist W. R. B. Robertson more than 100 years ago. They have since been observed in many species, including catfish, sheep, butterflies, bats, bovids, rodents and humans, and are the most common chromosomal change in mammals. Robertsonian translocations are particularly rampant in the house mouse, Mus musculus domesticus, where they exhibit meiotic drive and create reproductive isolation. Recent progress has been made in understanding how Robertsonian chromosomes form in the human genome, highlighting some of the fundamental principles of how and why these types of fusion events occur so frequently. Consequences of these fusions include infertility and Down's syndrome. In this Hypothesis, I postulate that the conditions that allow these fusions to form are threefold: (1) sequence homology on non-homologous chromosomes, often in the form of repetitive DNA; (2) recombination initiation during meiosis; and (3) physical proximity of the homologous sequences in three-dimensional space. This Hypothesis highlights the latest progress in understanding human Robertsonian translocations within the context of the broader literature on Robertsonian chromosomes.
The Therapeutic Effects of Autologous Platelet-Rich Plasma Gel on Cutaneous Wound Healing in Rescued Horses
Authors: Sajjad MT , Akbar H , Khan MA , Mushtaq MH , Bokhari SG , Hayat MA , Mustafa G 
Published: April 2024

This study explored the effect of platelet-rich plasma gel on skin wound healing in rescued horses. A total of twenty horses were used and allocated into two groups: PRP-treated Group A (n=10) and ASD-treated Group B (n=10). Group A animals were treated with autologous PRP gel, while group B animals were treated with sterile saline. A full-thickness (1.5 mm2) skin wounds were selected in each horse. Histopathological examination of wound tissue in horses was performed on days 8, 40, and 60. Wound epithelialization was assessed by HE staining, and collagen re-establishment was assessed by Masson’s trichrome staining. The CAT activity and MDA concentration were assessed in blood samples on days 8, 40, and 60. All data were subjected to statistical analysis. We observed a highly significant increase (P<0.01) in re-epithelization at days 40 to 60 in the PRP wounds compared to the ASD wounds. Collagen was well organized (P<0.01) in the PRP wounds compared with the ASD wounds at day 40 to day 60. MDA concentration was significantly decreased from day 40 to day 60 (P<0.05) in the PRP wounds than the ASD wounds. CAT activity showed no difference (P>0.05) between PRP wounds and ASD wounds. In conclusion, compared to ASD wounds, PRP wounds promoted cutaneous wound healing in horses by suppressing oxidative stress levels, accelerating wound epithelialization, and generating organized tissue, interlocking collagen bundles of dermal collagen. However, ultrasonographical assessment level study is needed to further investigate the effect of PRP gel on skin wound healing in rescued horses.
Keywords: Horses, Oxidative stress, Platelet-Rich Plasma, Sterile saline, Skin Wound Healing.
The Effect of Different Feeding on Growth in Morkaraman Male Lambs
Authors: Şahinler Z , Demir Y , Gürsoy E 
Published: April 2024

The object of this study is to compare the concentrated feeding under intensive conditions with the traditional two feed types applied in the Morkaraman lambs feeding in Ağrı province. By forming 3 groups having 15 heads in each with random sampling after the male lambs weaned (75th day), each group was fed with different feeding. The 1st group was subjected to traditional day and night lactation beside grazing on pasture, 2nd group was subjected to ad-libitum concentrated feed and hay- clover under intensive conditions, the 3rd group was subjected to traditional pasture grazing. For the Morkaraman male lambs; 75th day (per feeding) and 135th day (end of feeding) average live weights are found for 1st, 2nd and 3rd groups and in general order as 21.27±0.819, 20.65±0.564, 20.57±0.824, 20.83±0.423kg and 33.43±0.727, 35.88±0.875, 26.95±1.084, 32.08±0.765 kg respectively. Regarding the 75th day live weights, the differences among three groups are similar and insignificant, regarding the 135th day live weights are similar in the 1st and 2nd groups, and the differences (p<0.01) with the 3rd group are important. Daily live weight gains on 75-90th days live weight gains are similar in the 1st and 2nd groups, the difference with the 3rd group is significant (p<0.01), regarding the 105-120th and 120-135th days the differences among three groups are found statistically significant (p<0.01). This study revealed not only the insufficiency of the lamb feeding on the low-quality pastures but also the inadequacy of the growth of the lambs sucking dams fed on the low-quality pastures and the lambs grazing on these pastures as well. As a result, it is concluded that the concentrated feed under intensive conditions is more efficient on lamb growth; however, the feeding of the lamb and dam grazing on pasture should be supported by a supplementary feeding.

Keywords: Morkaraman; live weight gain; lamb growth; pasture
Comparative analysis of the development of highly qualified personnel: transition of the Federal State Educational Standard to the Federal State Educational Standard
Authors: Kuznetsov Maxim 
Published: April 2024

Strategic features of the formation and optimization of highly qualified personnel, in the context of a rapidly developing state program of adjunct/postgraduate studies, the transition from Federal state educational standards to Federal state requirements is of particular importance. The transition to federal state requirements is aimed at increasing the quality of the formation of research competencies of adjuncts/graduate students in educational institutions of higher education. The existing trends are aimed at improving the formation of professional skills of young professionals. At the same time, significant changes in the return to pre-existing federal state requirements cover aspects of regulating the scientific activities of scientific, pedagogical and scientific personnel and scientific supervisors fixed on the basis of internal regulations. To which the relevant requirements of the management of the associate/graduate student were also fixed. Optimization of the direction of training scientific, pedagogical and scientific personnel in accordance with federal state requirements fix certain guidelines for the independent functioning of an educational organization, which gives it a large list of freedom of action aimed at training adjuncts /graduate students.
The purpose of the article is to analyze and comparatively summarize normative legal acts aimed at improving the training of adjuncts/graduate students in the field of science and higher education.
PEDAGOGICAL ANALYSIS OF PREVENTION OF ASOCIAL BEHAVIOR IN MINORS IN HISTORICAL RETROSPECTIVE
Authors: Zyablova Anastasiya 
Published: April 2024

Antisocial behavior of minors is a problem that is projected into modern times, but its underlying causes are reflected in every historical period, starting from pre-revolutionary. The difficult living conditions of street and neglected children and teenagers force them to take extreme measures, beg, and commit crimes. It is historical experience that can explain the pedagogical aspects of the prevention
of antisocial behavior of minors, since in each era appropriate content and tools were proposed, based on pedagogical approaches that were relevant for a particular time, which are important grounds for the development of preventive measures in relation to the social and pedagogical phenomenon of “trouble.” Historical analysis helps to identify both ineffective methods of education and successful practices, which will subsequently allow you to use successful experience and not make the mistakes of the past. The article examines the key administrative decisions and pedagogical methods that were in Russia in different historical periods, with an emphasis on the pre-revolutionary and Soviet periods. An analysis of historical sources, pedagogical literature, and legal documents
is provided in order to study measures to combat and prevent antisocial behavior among children and adolescents. The hypothesis of this study is the possibility of using the practical experience of past historical periods in modern times.
Hereditary Hemorrhagic Telangiectasia - a literature review
Authors: Stodolak Marcel , Krużel Aleksandra , Kłos Kamil , Sajdak Piotr , Tomasik Justyna , Dębik Marika , Szydłowski Łukasz , Żurowska Klaudia , Ziajor Seweryn , Bednarski Artur , Turski Mikołaj 
Published: April 2024

Introduction and purpose: Hereditary hemorrhagic telangiectasia (HHT), also known as Osler-Weber-Rendu syndrome, is a rare and complex vascular disorder characterized by abnormal blood vessel formation. It can present significant challenges in diagnosis and management, as it is currently estimated up to 90% of those affected are never diagnosed. Despite its rarity, HHT can carry substantial implications for patients and their families, at times requiring comprehensive medical care and support. This paper aims to provide an in-depth exploration of HHT, encompassing its epidemiology, genetics, clinical manifestations, diagnostic approaches, and current management strategies. Moreover, we hope to point out possible areas in need of future research.
Description of the state knowledge: HHT is an autosomal dominant genetic disorder that affects 1 in 5-10,000 people. Its most prominent symptoms include telangiectasia of skin and mucous membranes, recurrent epistaxis, gastrointestinal bleeding and arteriovenous malformations in vital organs. In the vast majority of cases, it is caused by a mutation in one of the following genes: ENG, ACVRL1, SMAD4; however, mutations in other genes have been described to cause a similar or much the same constellation of symptoms. Treatment options are focused on managing symptoms and improving quality of life, but possible new treatment options are being researched that could change the landscape of HHT management.
Summary: HHT is a severely underdiagnosed disease that has seen a surge of researchers’ interest in recent years. We firmly believe that, combined with plummeting costs of genetic testing and possible new treatment options, means that HHT will become increasingly important in physicians’ everyday practice.