bluuebunny/crossref_metadata_2025_split huggingface dataset:
Serum Resistin Levels and Related Genetic Variants Are Associated With Bone Mineral Density in Postmenopausal Women
Authors: Tariq Sundus , Tariq Saba , Khaliq Saba , Lone Khalid Parvez 
Published: August 2022

BackgroundOsteoporosis is a multifactorial disorder and a number of genetic variants or loci responsible for bone mineral density (BMD) have been identified. Resistin, a novel adipokine has diverse role in human body including its function in bone remodeling. The objective of this study was to see the association of serum resistin levels and related genetic variants (rs3931020, rs13144478) with BMD in postmenopausal females.MethodsThis comparative analytical study was conducted on postmenopausal osteoporotic (n=101), osteopenic (n=77) and non-osteoporotic (n=74) females. For comparison and correlational analysis, Kruskal-Wallis test and Spearman’s rho correlation were used respectively. Hardy-Weinberg equilibrium (HWE) was calculated by using Chi-square test (χ2).ResultsThere was significant difference in the serum levels of resistin (p &lt;0.001), among the three groups. Significant negative correlation of resistin was observed with BMD at various sites. Serum resistin levels were significantly low in the rs3931020 AA homozygous genotype (p = 0.010), and significantly high in the rs13144478 AT heterozygous genotype (p = 0.020), BMD at all sites except left femoral neck was significantly high in rs3931020 AA genotype, while BMD at lumbar spine, left hip and total BMD were significantly low in the rs13144478 TT homozygotes.ConclusionHigh serum resistin levels are associated with low BMD and single nucleotide variation in rs3931020 and rs13144478 may lead to high serum resistin levels and low bone mineral density. Resistin can serve as a new genetic marker, potential therapeutic target and predictor of osteoporosis.
Adrenal bleeding due to pheochromocytoma - A call for algorithm
Authors: Rzepka Ewelina , Kokoszka Joanna , Grochowska Anna , Ulatowska-Białas Magdalena , Lech Martyna , Opalińska Marta , Przybylik-Mazurek Elwira , Gilis-Januszewska Aleksandra , Hubalewska-Dydejczyk Alicja 
Published: August 2022

BackgroundAdrenal hemorrhage is a rare, usually life-threating complication. The most common neoplasm resulting in spontaneous adrenal bleeding is pheochromocytoma and it accounts for nearly 50% of cases. Currently, the recommendations for the diagnosis and management of patients with adrenal bleeding due to pheochromocytoma are unavailable.Materials and methodsWe performed a database search for all pheochromocytoma patients, diagnosed and treated from 2005 to 2021 in tertiary endocrinology center. 206 patients were identified, 183 with complete data were included in the analysis. We investigated clinicopathological characteristics, treatment and outcomes of hemorrhagic pheochromocytoma cases and characterize our approach to perioperative diagnosis and medical management. Finally our experiences and data from previously published articles concerning adrenal hemorrhage were analyzed to propose a diagnostic and therapeutic algorithm for hemorrhagic pheochromocytomas.ResultsIn the whole group, seven patients (4 men and 3 women) with adrenal bleeding were found, (3.8%). Median patient’s age was 49 years (range: 36-78 years). The most common manifestation of adrenal bleeding was acute abdominal pain (5/7). Two patients developed shock. Hormonal assessment was performed in five patients, based on 24-hour urinary fractionated metanephrines with urinary 3-methoxytyramine. Normetanephrine was elevated in all patients, metanephrine and 3-methoxytyramine - in four cases (4/5). Most patients (6/7) had symptoms suggesting pheochromocytoma before hemorrhage – most commonly paroxysmal hypertension (4/7). One patient died, before the diagnosis of adrenal bleeding was made. Diagnostic imaging performed in six out of seven patients revealed adrenal tumor, with median largest diameter equal to 7.4 cm (range: 5-11 cm). Five patients had elective surgery, in one case an urgent surgery was performed. In all cases the diagnosis of pheochromocytoma was confirmed in postoperative histopathology or in autopsy. The perioperative survival rate was 85.7%.ConclusionsDiagnosis of pheochromocytoma should be always considered in patients with adrenal bleeding, especially with accompanying abdominal pain, hemodynamic shock and previous history of pheochromocytoma-associated symptoms. Lack of proper diagnosis of pheochromocytoma before surgery is associated with an additional perioperative risk. To improve the decision making in this life-threatening clinical situation, based on our results and literature data, we proposed a diagnostic and treatment algorithm.
Case Report: A case of HNF1B mutation patient with first presentation of diabetic ketosis
Authors: Ge Shenghui , Yang Mengge , Gong Wenfeng , Chen Wenzhe , Dong Jianjun , Liao Lin 
Published: August 2022

BackgroundMaturity-onset diabetes of the young 5 (MODY5), a rare diabetes syndrome of young adults, is associated with variants in hepatocyte nuclear factor 1B (HNF1B) gene.Case PresentationWe reported a case of MODY5, which presented with diabetic ketosis, multiple renal cysts, and hypokalemia. In this case, the HNF1B score was estimated as 13 and a heterozygous variant of HNF1B in exon 4 (c.826C&gt;T, p.Arg276*) was identified through Sanger sequencing.ConclusionsMultiple renal cysts and youth-onset diabetes are common manifestations in patients with HNF1B mutations, and insufficient insulin secretion may be a potential cause of diabetic ketosis in MODY5.
Timing of puberty and school performance: A population-based study
Authors: Suutela Maria , Miettinen Päivi J. , Kosola Silja , Rahkonen Ossi , Varimo Tero , Tarkkanen Annika , Hero Matti , Raivio Taneli 
Published: August 2022

ObjectiveTo determine whether the timing of puberty associates with school performance.MethodsGrowth data on 13,183 children born between 1997 and 2002, were collected from child health clinics and school healthcare and school performance data from school records. Age at peak height velocity (PHV) marked pubertal timing. The relationships between age at PHV and average grades in mathematics, native language, English, and physical education from school years 6 (end of elementary school; age 11-12 years), 7 (start of middle school; 12-13 years), and 9 (end of middle school; 14-15 years) were modeled using generalized estimating equations and linear mixed models, adjusted for the month of birth and annual income and education levels in school catchment areas.ResultsThe mean (SD) age at PHV was 13.54 (1.17) years in boys and 11.43 (1.18) years in girls. In girls, age at PHV was associated with grades in mathematics (β=0.041–0.062, p&lt;0.005) and physical education (β=0.077–0.107, p&lt;0.001) across the study years, and in school year 9, also with grades in English (β=-0.047, 95%CI -0.072 to -0.021, p&lt;0.001). Among boys, only the grades in physical education were related to age at PHV across the study years (β=0.026–0.073, p&lt;0.01) and in middle school the grades in mathematics decreased dramatically.ConclusionsIn both sexes, the timing of puberty was associated with the grades in physical education, and in girls, with academic achievement. The decrease in boys’ mathematics grades and sex difference in academic achievement were unexplained by the timing of puberty.
FSH and bone: Comparison between males with central versus primary hypogonadism
Authors: Giovanelli Luca , Quinton Richard , Cangiano Biagio , Colombo Stefano , Persani Luca , Bonomi Marco , Chiodini Iacopo 
Published: August 2022

ObjectiveExperimental studies proposed a direct effect of follicle-stimulating hormone (FSH) on the skeletal metabolism, but results of human studies mainly conducted in females are controversial. The present study aims to investigate the possible role of FSH excess in male bone health, by comparing for the first time primary and central hypogonadism.Design and Methods119 men were enrolled in this cross-sectional observational study at the time of the first diagnosis of hypogonadism. All participants had spontaneous pubertal development. Regarding patients with hypergonadotropic hypogonadism (Hyper-H), Klinefelter syndrome (KS) patients were distinguished from the other forms (non-KS-Hyper-H) based on the onset of FSH elevation. Bone mineral density (BMD) at both lumbar spine (LS) and femoral neck (FN), as well as the prevalence of morphometric vertebral fractures (VFx), were assessed.ResultsAcross the whole cohort, higher LS and FN BMD were associated with older age at diagnosis and higher body mass index (BMI), respectively. After adjusting for potential confounders (age at diagnosis, BMI, smoking habits, degree of hypogonadism defined by calculated free testosterone, and 25OH vitamin D levels), non-KS-Hyper-H patients showed significantly lower LS BMD and tended to show lower FN BMD values, as compared to those with hypogonadotropic hypogonadism (Hypo-H). In KS men, LS BMD was significantly lower than in those with non-KS-Hyper-H. No significant differences in the prevalence of VFx were found between the groups.ConclusionsThese findings suggest a potential negative effect of FSH excess on the male bone mass, especially at spine. The duration of high FSH levels may also contribute to these findings.
The effect of magnesium alone or its combination with other supplements on the markers of inflammation, OS and metabolism in women with polycystic ovarian syndrome (PCOS): A systematic review
Authors: Li Ruiyun , Li Zhiyuan , Huang Yi , Hu Kaiyan , Ma Bin , Yang Yuan 
Published: August 2022

The objective of this systematic review is to synthesize the available evidence on the effectiveness of magnesium supplements on the markers of inflammation, oxidative stress (OS), and metabolism in PCOS patients and to provide a basis for its clinical treatment. Electronic databases (PubMed, Cochrane Library databases, Embase, Web of science, CMB, CNKI, VIP, Wan Fang and ClinicalTrials.gov) were searched from their inception until January 2022. Randomized controlled trials (RCTs) for PCOS undergoing therapy with magnesium supplementation alone or in combination with other agents. The primary outcomes were the markers of blood glucose and OS.363 patients from nine RCTs were included in the current systematic review. Four of the nine studies reported the effects of magnesium supplementation alone on OS or metabolic markers in women with PCOS. Whilemagnesium supplementation alone did not show any significant improvement in the markers of inflammation, OS or metabolism in PCOS, seven of the nine articles reported the effect of magnesium co-supplementation on OS or metabolic markers in PCOS patients. Magnesium combined with vitamin E or zinc-calcium-vitamin D significantly improved glucose and lipid metabolism in PCOS patients. Magnesium intake alone did not lead to a significant improvement in the markers of OS, blood glucose, or serum lipids in PCOS. However, magnesium combined with other supplements (vitamin E, zinc, zinc-calcium-vitamin D) significantly improved serum hs-CRP, insulin, HOMA-IR, TG, TC levels, and the improvement in OS markers was inconclusive. The effect of magnesium and melatonin supplementation on the markers of metabolism needs to be further verified.System Review RegistrationPROSPERO https://www.crd.york.ac.uk/PROSPERO/#myprospero, CRD42022303410.
Genome–Environment Associations, an Innovative Tool for Studying Heritable Evolutionary Adaptation in Orphan Crops and Wild Relatives
Authors: Cortés Andrés J. , López-Hernández Felipe , Blair Matthew W. 
Published: August 2022

Leveraging innovative tools to speed up prebreeding and discovery of genotypic sources of adaptation from landraces, crop wild relatives, and orphan crops is a key prerequisite to accelerate genetic gain of abiotic stress tolerance in annual crops such as legumes and cereals, many of which are still orphan species despite advances in major row crops. Here, we review a novel, interdisciplinary approach to combine ecological climate data with evolutionary genomics under the paradigm of a new field of study: genome–environment associations (GEAs). We first exemplify how GEA utilizes in situ georeferencing from genotypically characterized, gene bank accessions to pinpoint genomic signatures of natural selection. We later discuss the necessity to update the current GEA models to predict both regional- and local- or micro-habitat–based adaptation with mechanistic ecophysiological climate indices and cutting-edge GWAS-type genetic association models. Furthermore, to account for polygenic evolutionary adaptation, we encourage the community to start gathering genomic estimated adaptive values (GEAVs) for genomic prediction (GP) and multi-dimensional machine learning (ML) models. The latter two should ideally be weighted by de novo GWAS-based GEA estimates and optimized for a scalable marker subset. We end the review by envisioning avenues to make adaptation inferences more robust through the merging of high-resolution data sources, such as environmental remote sensing and summary statistics of the genomic site frequency spectrum, with the epigenetic molecular functionality responsible for plastic inheritance in the wild. Ultimately, we believe that coupling evolutionary adaptive predictions with innovations in ecological genomics such as GEA will help capture hidden genetic adaptations to abiotic stresses based on crop germplasm resources to assist responses to climate change.“I shall endeavor to find out how nature’s forces act upon one another, and in what manner the geographic environment exerts its influence on animals and plants. In short, I must find out about the harmony in nature” Alexander von Humboldt—Letter to Karl Freiesleben, June 1799.
Case report: FOXP1 syndrome caused by a de novo splicing variant (c.1652+5 G>A) of the FOXP1 gene
Authors: Chen Min , Sun Yixi , Qian Yeqing , Chen Na , Li Hongge , Wang Liya , Dong Minyue 
Published: August 2022

FOXP1 syndrome is a rare neurodevelopmental disorder characterized by global developmental delay, intellectual disability, and language delay, with or without autistic features. Several splicing variants have been reported for this condition, but most of them lack functional evidence, and the actual effects of the sequence changes are still unknown. In this study, a de novo splicing variant (c.1652 + 5 G&gt;A) of the FOXP1 gene was identified in a patient with global developmental delay, mild intellectual disability, speech delay, and autistic features. Assessed by TA-cloning, the variant promoted the skipping of exon 18 and a premature stop codon (p.Asn511*), resulting in a predicted truncated protein. This variant, that is lacking the forkhead-box DNA-binding domain and nuclear localization signal 2, may disrupt the protein function and thus cause FOXP1 syndrome-related symptoms. Our study extends the phenotypic and allelic spectra of the FOXP1 syndrome.
DNA methylation patterns and gene expression from amygdala tissue of mature Brahman cows exposed to prenatal stress
Authors: Baker Emilie C. , Earnhardt Audrey L. , Cilkiz Kubra Z. , Collins Haley C. , Littlejohn Brittni P. , Cardoso Rodolfo C. , Ghaffari Noushin , Long Charles R. , Riggs Penny K. , Randel Ronald D. , Welsh Thomas H. , Riley David G. 
Published: August 2022

Prenatal stress can alter postnatal performance and temperament of cattle. These phenotypic effects may result from changes in gene expression caused by stress-induced epigenetic alterations. Specifically, shifts in gene expression caused by DNA methylation within the brain’s amygdala can result in altered behavior because it regulates fear, stress response and aggression in mammals Thus, the objective of this experiment was to identify DNA methylation and gene expression differences in the amygdala tissue of 5-year-old prenatally stressed (PNS) Brahman cows compared to control cows. Pregnant Brahman cows (n = 48) were transported for 2-h periods at 60 ± 5, 80 ± 5, 100 ± 5, 120 ± 5, and 140 ± 5 days of gestation. A non-transported group (n = 48) were controls (Control). Amygdala tissue was harvested from 6 PNS and 8 Control cows at 5 years of age. Overall methylation of gene body regions, promoter regions, and cytosine-phosphate-guanine (CpG) islands were compared between the two groups. In total, 202 genes, 134 promoter regions, and 133 CpG islands exhibited differential methylation (FDR ≤ 0.15). Following comparison of gene expression in the amygdala between the PNS and Control cows, 2 differentially expressed genes were identified (FDR ≤ 0.15). The minimal differences observed could be the result of natural changes of DNA methylation and gene expression as an animal ages, or because this degree of transportation stress was not severe enough to cause lasting effects on the offspring. A younger age may be a more appropriate time to assess methylation and gene expression differences produced by prenatal stress.
Safety of inactivated SARS-CoV-2 vaccines in myasthenia gravis: A survey-based study
Authors: Li Hong-Yan , Shao Li-Yuan , Song Min , Hu Shi-Min , Yue Yao-Xian , Li Hai-Feng 
Published: August 2022

BackgroundVaccination remains the most effective measure to prevent SARS-CoV-2 infection and worse outcomes. However, many myasthenia gravis (MG) patients are hesitant to receive vaccine due to fear of worsening.MethodsMG patients were consecutively enrolled in two MG centers in North China. The “worsening” after vaccination was self-reported by MG patients, and severity was measured with a single simple question. The general characteristics and disease status immediately prior to the first dose were compared between the worsening and non-worsening groups. Independent factors associated with worsening were explored with multivariate regression analysis.ResultsOne hundred and seven patients were included. Eleven patients (10.3%) reported worsening after vaccination, including eight patients with mild or moderate worsening and three patients with severe worsening. Only one of them (0.9%) needed an escalation of immunosuppressive treatments. There were significant differences between the worsening and non-worsening groups in terms of Myasthenia Gravis Foundation of America classes immediately before the first dose and intervals since the last aggravation. Precipitating factors might contribute to the worsening in some patients. Logistic regression revealed that only interval since the last aggravation ≤6 months was associated with worsening after SARS-CoV-2 vaccination (P = 0.01, OR = 8.62, 95% CI: 1.93–38.46).ConclusionSARS-CoV-2 vaccines (an overwhelming majority were inactivated vaccines) were found safe in milder Chinese MG patients who finished two doses. Worsening after vaccination was more frequently seen in patients who were presumed as potentially unstable (intervals since last aggravation ≤6 months). However, mild worsening did occur in patients who were presumed to be stable. Precipitating factors should still be sought and treated for better outcome.
Interferon α-2b spray shortened viral shedding time of SARS-CoV-2 Omicron variant: An open prospective cohort study
Authors: Xu Nan , Pan Jinjin , Sun Li , Zhou Cuimei , Huang Siran , Chen Mingwei , Zhang Junfei , Zhu Tiantian , Li Jiabin , Zhang Hong , Gao Yufeng 
Published: August 2022

BackgroundThe Omicron SARS-CoV-2 variant has spread quickly worldwide due to its effects on virus transmission and vaccine effectiveness. Interferon(IFN) has been shown to have a protective effect against SARS-CoV because of its broad antiviral activity. This study aimed to analyze the treatment effects of IFN α-2b spray in virus clearance of the Omicron SARS-CoV-2 variant.MethodsWe examined the effectiveness and safety of IFN α-2b spray in Shanghai, China, with participants infected with the Omicron SARS-CoV-2 variant in an open, prospective cohort study from April 16th to May 5th, 2022.ResultsA total of 871 confirmed patients were enrolled in this study. Four hundred and thirteen patients were allocated to the IFN α-2b spray group, and 458 patients were allocated to the control group. The viral shedding time was significantly different between experimental group and control group (11.90 vs.12.58, P &lt;0.05). In the experimental group, the median administration time since the first positive test for SARS-CoV-2 was three days, ranging from 0 to 15 days. There was no obvious adverse effect associated with the spray of IFN α-2b. The univariate Cox regression analysis revealed that the administration time since the first positive test ≤3 days was a protective factor associated with viral shedding time (HR 0.81 95% CI 0.74-0.87, P &lt;0.05). Subgroup analysis showed that the viral shedding time was 10.41 (4.00-16.00) days in the ≤3 days group, which was significantly less than that in the control group (12.58, 95% CI: 7.00-19.15, P &lt;0.0001) and in the &gt;3 days group (13.56, 95%CI: 7.00-22.25, P &lt;0.0001).ConclusionsIFN α-2b spray shortened the viral shedding time of the Omicron SARS-CoV-2 variant when administrated within three days since the first positive test for SARS-CoV-2.
Diet composition of redfish (Sebastes sp.) during periods of population collapse and massive resurgence in the Gulf of St. Lawrence
Authors: Brown-Vuillemin Sarah , Chabot Denis , Nozères Claude , Tremblay Réjean , Sirois Pascal , Robert Dominique 
Published: August 2022

Redfish (Sebastes mentella and S. fasciatus) are back at spectacular record high levels in the Gulf of St. Lawrence (GSL) and the effects of this massive resurgence on other components of the food web remain largely unknown. To better understand the trophic implications of the surging redfish biomass within the GSL ecosystem, 3,690 stomachs containing food were collected during two periods: one characterised by low redfish abundance (1993–1999) and the other during a period of record abundance (2015–2019). Taxonomical analysis of stomach contents from individuals of different sizes from three subareas of the GSL was carried out to determine diet composition during both periods. Zooplankton represented the main prey category for small redfish (&lt; 20 cm), which was driven by a predation on amphipods, mostly Themisto sp. in North-East Gulf, in the 1990s and on copepods of the genus Calanus in the deep channels and euphausiids in North-West Gulf in the 2010s. Themisto sp. still dominated the diet of medium (20–30 cm) redfish in the 1990s while the copepods were predominant during the 2010s. Shrimp consumption increased with redfish size and two species were particularly important in large redfish diet (≥ 30 cm) during both periods: pink glass shrimp (Pasiphaea multidentata), mostly in the Laurentian Channel and northern shrimp (Pandalus borealis), especially in North-East Gulf. Redfish predation on shrimp represents a major concern for the dynamics of the northern shrimp which supports a valuable fishery in the GSL but has been declining in abundance since several years. Piscivory was observed in large redfish diet, with capelin (Mallotus villosus) being the major fish prey in the 1990s and redfish (cannibalism) in the 2010s, suggesting density-dependent control at high density of small redfish. By presenting a detailed overview into the redfish diet composition and its temporal variability, the present study offers a first look into the possible future trophic impacts of a resurging groundfish in the GSL ecosystem.