bluuebunny/crossref_metadata_2025_split huggingface dataset:
A rapidly growing cutaneous malignant glomus tumor with a CCND3 mutation
Authors: Kitz Robert , Leung Olivia , Royer Michael 
Published: September 2022

AbstractGlomus tumors are rare mesenchymal neoplasms composed of cells resembling the glomus body. They are most frequently seen in subungual regions but have been reported to arise in almost every anatomic location. Malignant glomus tumors, also called glomangiosarcomas, of cutaneous origin are exceedingly rare with only 47 reported cases. The genetic alterations that lead to the development of cutaneous malignant glomus tumors are not well understood. Small studies report glomus tumors with mutations in glomulin (GLMN), NF1, BRAF, NOTCH, PDGFRB, KRAS, and SMARCB1. These mutations have mostly been studied in deep or visceral glomus tumors. We report a case of a cutaneous malignant glomus tumor with a CCND3 point mutation identified on next generation sequencing, without any of the previously described genetic mutations. CCND3 mutations that cause cyclin D3 amplification may prove to be targets for CDK4/6 inhibitors in the treatment of malignant glomus tumors.
Cell block‐based RNA next generation sequencing for detection of gene fusions in lung adenocarcinoma: An institutional experience
Authors: Wei Shuanzeng , Talarchek Jacqueline N. , Huang Min , Gong Yulan , Du Fang , Ehya Hormoz , Flieder Douglas B. , Patchefsky Arthur S. , Wasik Mariusz A. , Pei Jianming 
Published: September 2022

AbstractObjectiveTargeted therapy is an important part of the treatment of lung adenocarcinoma. Tests for EGFR mutation, ALK, ROS1, RET and NTRK gene fusions are needed to make a treatment decision. These gene fusions are traditionally detected by fluorescence in situ hybridisation (FISH) or immunohistochemistry. In this study, we investigated whether gene fusions in pulmonary adenocarcinoma could be accurately detected by RNA next‐generation sequencing (RNA‐NGS) and whether cytology cell blocks could be used effectively for this test.MethodsArchived cytological specimens of lung adenocarcinoma submitted for RNA sequencing between 2019 and 2022 at Fox Chase Cancer Center were retrospectively retrieved. Hybrid capture‐based targeted RNA next generation sequencing was used, which covers 507 fusion genes, including ALK, ROS1, RET and NTRKs, irrespective of their partner genes. DNA NGS, FISH and chromosomal microarray analysis were used to confirm the results of the RNA‐NGS.ResultsA total of 129 lung adenocarcinoma cytology specimens were submitted for molecular testing. Eight of 129 (6.2%) cases were excluded from RNA sequencing as their cell blocks contained inadequate numbers of tumour cells. One case (0.8%) failed to yield adequate RNA. The overall success rate was 93% (120/129). Ten of 120 (8.3%) cytology cases were positive for gene fusions, including 7 ALK, 2 ROS1 fusion genes, and 1 RET fusion gene. Twenty‐two cell block cases were also tested for ALK fusion genes using FISH. However, 11 of 22 (50%) failed the testing due to inadequate material.ConclusionsCytology cell blocks can be used as the main source of material for molecular testing for lung cancer. Detection of gene fusions by RNA‐based NGS on cell blocks is convenient and reliable in daily practice.
Chronic pain, psychological distress, and quality of life in males with Duchenne muscular dystrophy
Authors: Huang Meihuan , Chen Turong , Wang Yujuan , Zhou Chunming , Cao Jianguo , Lu Xinguo , Zeng Hongwu 
Published: September 2022

AbstractAimTo describe chronic pain in Duchenne muscular dystrophy (DMD) from children's/adolescents' perspectives, explore patient variables associated with self‐reported pain, and examine the relationship between chronic pain, psychological functioning, and health‐related quality of life (HRQoL).MethodThis observational study included a paediatric cohort (aged 8–18 years; median age 9 years 4 months) with DMD under multidisciplinary care (n = 45). Clinical data of the latest visit were extracted from the electronic health record and assessment of pain, psychological distress, and HRQoL were performed during the same visit.ResultsThirty‐two patients reported pain during the previous 4 weeks, and 18 reported persistent or recurrent chronic pain. Average pain intensity of chronic pain was mild, with regions of the legs (n = 12), lower back (n = 6), hips (n = 6), and shoulder (n = 6) most frequently affected. Older age, higher body mass index, being non‐ambulatory, wheelchair dependency, and spinal deformities were contextual variables related to the presence of chronic pain. Furthermore, chronic pain was significantly associated with psychological distress and reduced HRQoL in paediatric patients with DMD.InterpretationChronic pain in paediatric DMD is frequent and widespread, highlighting the need for pain to be addressed in the routine care of affected young people. Chronic pain may make a significant contribution to psychological distress and impaired HRQoL in paediatric patients with DMD.What this paper adds

Chronic pain differs in aetiology, scope, and nature compared with acute pain in paediatric Duchenne muscular dystrophy (DMD).

Older age, higher body mass index, being non‐ambulatory, wheelchair dependency, and spinal deformities are important patient variables.

Chronic pain is significantly associated with psychological distress and reduced health‐related quality of life in paediatric DMD.
Patterns of volatile organic compounds in excrements of preterm neonates
Authors: Bous Michelle , Tutdibi Erol , Nourkami‐Tutdibi Nasenien , Kaiser Elisabeth , Stutz Regine , Meyer Sascha , Baumbach Jörg Ingo , Zemlin Michael , Goedicke‐Fritz Sybelle 
Published: September 2022

AbstractBackgroundAs neonates are susceptible for many diseases, establishing noninvasive diagnostic methods is desirable. We hypothesized that volatile organic compounds (VOCs) could be successfully measured in diaper samples.MethodsWe performed a feasibility study to investigate whether ambient air‐independent headspace measurements of the VOC profiles of diapers from premature infants can be conducted using ion mobility spectrometer coupled with multi‐capillary columns (B & S Analytik GmbH).ResultsWe analysed 39 diapers filled with stool (n = 10) or urine (n = 20) respectively, using empty diapers as a control (n = 9). A total of 158 different VOCs were identified, and we classified the content of the diapers (urine or stool) according to their VOC profiles with a significance level of p < 0.05.ConclusionsWe have developed a novel method to study headspace VOC profiles of biosamples using ion mobility spectrometry coupled with multi‐capillary columns. Using this method, we have characterized the VOC profiles of stool and urine of preterm neonates. Future studies are warranted to characterize specific VOC profiles in infections and other diseases of the preterm neonate, thus establishing quick and noninvasive diagnostics in the routine care of the highly vulnerable preterm and term neonates.
Clinical features of patients with chronic liver disease in Japan related to alcohol use: Nationwide examination using alcohol use disorders identification test
Authors: Hiraoka Atsushi , Nakai Masato , Hara Nagisa , Hanai Tatsunori , Namisaki Tadashi , Miyaaki Hisamitsu , Nakahara Takashi , Hiramatsu Akira , Ohama Hideko , Tada Fujimasa , Takahashi Hirokazu , Aikata Hiroshi , Eguchi Yuichiro , Hiasa Yoichi , Yoshiji Hitoshi 
Published: September 2022

AbstractAimPatients often do not respond truthfully to physicians' interviews concerning alcohol. Few reports regarding the level of alcohol dependence in patients with chronic liver disease (CLD) have been presented. This study aimed to elucidate severity distribution in patients with CLD using the alcohol use disorders identification test (AUDIT).MethodsFrom March to June 2022, 2034 Japanese outpatients with CLD, including 415 cases associated with hepatitis C virus, 436 with hepatitis B virus, 173 with alcohol‐related liver disease (ARLD), and 1010 with other factors, were interviewed using AUDIT. Clinical features related to alcohol use in these patients were then retrospectively evaluated.ResultsIn all patients, an AUDIT score 8–14 (harmful use) was noted in 5.8% of hepatitis C virus, 8.9% of hepatitis B virus, 24.3% of ARLD, and 4.4% of other groups, respectively (P < 0.001), while a score ≥15 (dependency) was noted in 3.4%, 3.0%, 27.7%, and 1.9%, respectively (P < 0.001). When the country was divided into regions, the percentages remained similar. Comparisons between patients with and without an AUDIT score ≥8 (n = 1412), performed after exclusion of those without related data (n = 622), showed no significant differences for hepatic reserve function, while those with harmful alcohol use were significantly younger (66 vs. 70 years, P = 0.006) and had a larger percentage of men (80.4% vs. 45.1%, P < 0.001).ConclusionHarmful alcohol and alcohol dependency were observed in approximately 10% of patients with viral or non‐viral CLD, after excluding patients with ARLD. Assessment of alcohol intake by use of the AUDIT questionnaire as well as adequate intervention should be considered necessary.
Structural characterisation of two polysaccharides from white common bean (Phaseolus vulgaris L.) and the application in microencapsulation of probiotics
Authors: Zhu Yingying , Li Jiayao , Feng Xuewei , Shi Zhenxing , Yao Yang , Shen Ruiling 
Published: September 2022

SummaryIncreasing attention has been focused on the application of plant polysaccharides in the area of microencapsulation of probiotic bacteria. It remained to be clarified how the chemical structure of plant polysaccharides affects their feasibility as wall materials. In this study, two structurally different polysaccharides, namely NSP‐1 (2.91 × 106 Da) and NSP‐2 (4.57 × 105 Da), were isolated from white common bean seeds. NSP‐1 was predominantly composed of Glc and Gal, and mainly linked as →4)‐Glcp‐(1→, →3,6)‐Glcp‐(1→ and →4)‐Galp‐(1→. NSP‐2 was predominantly composed of Gal and Ara, with main glycosidic bonds of →4)‐Galp‐(1→, Galp‐(1→ and →5)‐Araf‐(1→. NSP‐1 and NSP‐2 were co‐used with calcium alginate as wall materials for microencapsulation of Lactobacillus plantarum. NSP‐1 increased the encapsulation efficiency more than NSP‐2 (P < 0.05), while NSP‐2 mainly improved the survival of the probiotic during simulated gastrointestinal tract digestion and storage at 4 °C (P < 0.05). These findings will give a valuable perspective on plant polysaccharides applied in microencapsulation technology.
Postmortem grass carp (Ctenopharyngodon idella) muscle towards the disruption of integrity: a likely cause of abnormal regulation of tight junction and decreased antioxidant capacity
Authors: Tie Huaimao , Yu Dawei , Yang Fang , Jiang Qixing , Xu Yanshun , Xia Wenshui 
Published: September 2022

SummaryThe disruption of structural integrity could affect flesh quality changes. This study investigated the disruption of muscle integrity and the affecting factors in postmortem fish at 4 °C for 5 days storage. Haematoxylin–eosin staining indicated that profound disruption of structural integrity was observed for the changes of dissolved nucleus, irregular shape of myofibrils and loose attachment. The increased activities of β‐N‐acetyl‐glucosaminidase (NAG) and α‐Glucosidase (AG) enzymes confirmed the profound disruption of integrity in postmortem muscle. The abnormal up‐regulated gene expressions of claudin‐11, claudin‐12, claudin‐15a, claudin‐15b and myosin light chain kinase (MLCK) implied the disrupted intercellular integrity. The impaired cellular integrity and the increased oxidative damage was due to the decreased antioxidant capacity, which was regulated by the decreased transcriptional levels of antioxidant enzymes. Collectively, this study provided a partial molecular mechanisms for the disruption of structural integrity and the changes of flesh quality in postmortem fish muscle.
Characterization of influenza seasonality in China, 2010–2018: Implications for seasonal influenza vaccination timing
Authors: Liao Yilan , Xue Shan , Xie Yiran , Zhang Yanping , Wang Dayan , Zhao Tong , Du Wei , Chen Tao , Miao Hui , Qin Ying , Zheng Jiandong , Yang Xiaokun , Peng Zhibin , Yu Jianxing 
Published: September 2022

AbstractBackgroundOptimizing the timing of influenza vaccination based on regional temporal seasonal influenza illness patterns may make seasonal influenza vaccination more effective in China.MethodsWe obtained provincial weekly influenza surveillance data for 30 of 31 provinces in mainland China from the Chinese Center for Disease Control and Prevention for the years 2010–2018. Influenza epidemiological regions were constructed by clustering analysis. For each region, we calculated onset date, end date, and duration of seasonal influenza epidemics by the modified mean threshold method. To help identify initial vaccination target populations, we acquired weekly influenza surveillance data for four age groups (0–4, 5–18, 19–59, and ≥60 years) in each region and in 171 cities of wide‐ranging size. We used linear regression analyses to explore the association of epidemic onset dates by age group, city, and epidemiological region and provide evidence for initial target populations for seasonal influenza vaccination.ResultsWe determined that northern, mid, southwestern, southeast regions of mainland China have distinct seasonal influenza epidemic patterns. We found significant regional, temporal, and spatial heterogeneity of seasonal influenza epidemics. There were significant differences by age group and city size in the interval between epidemic onset in the city or age group and regional spread (epidemic lead time), with longer epidemic lead times for 5‐ to 18‐year‐old children and larger cities.ConclusionsKnowledge of influenza epidemic characteristics may help optimize local influenza vaccination timing and identify initial target groups for seasonal influenza vaccination in mainland China. Similar analyses may help inform seasonal influenza vaccination strategies in other regions and countries.
What is reproductive isolation?
Authors: Westram Anja M. , Stankowski Sean , Surendranadh Parvathy , Barton Nick 
Published: September 2022

Abstract
Reproductive isolation (RI) is a core concept in evolutionary biology. It has been the central focus of speciation research since the modern synthesis and is the basis by which biological species are defined. Despite this, the term is used in seemingly different ways, and attempts to quantify RI have used very different approaches. After showing that the field lacks a clear definition of the term, we attempt to clarify key issues, including what RI is, how it can be quantified in principle, and how it can be measured in practice. Following other definitions with a genetic focus, we propose that RI is a quantitative measure of the effect that genetic differences between populations have on gene flow. Specifically, RI compares the flow of neutral alleles in the presence of these genetic differences to the flow without any such differences. RI is thus greater than zero when genetic differences between populations reduce the flow of neutral alleles between populations. We show how RI can be quantified in a range of scenarios. A key conclusion is that RI depends strongly on circumstances—including the spatial, temporal and genomic context—making it difficult to compare across systems. After reviewing methods for estimating RI from data, we conclude that it is difficult to measure in practice. We discuss our findings in light of the goals of speciation research and encourage the use of methods for estimating RI that integrate organismal and genetic approaches.
Abstract
Reproductive isolation (RI) is a core concept in evolutionary biology and the basis by which biological species are defined. Despite this, the term is used in different ways and efforts to quantify RI from data have used vastly different approaches. In this paper, we attempt to clarify key issues about RI, including what it is, how it can be quantified in principle, and how it can be measured in practice.
Having a better home range does not reduce the cost of reproduction in Soay sheep
Authors: Regan Charlotte E. , Pemberton Josephine M. , Pilkington Jill G. , Smiseth Per T. 
Published: September 2022

AbstractA cost of reproduction may not be observable in the presence of environmental or individual heterogeneity because they affect the resources available to individuals. Individual space use is critical in determining both the resources available to individuals and the exposure to factors that mediate the value of these resources (e.g. competition and parasitism). Despite this, there has, to our knowledge, been little research to understand how between‐individual differences in resource acquisition, caused by variation in space use, interact with environmental variation occurring at the population scale to influence estimates of the cost of reproduction in natural populations. We used long‐term data from the St. Kilda Soay sheep population to understand how differences in age, relative home range quality, and average adult body mass, interacted with annual variation in population density and winter North Atlantic Oscillation index to influence over‐winter survival and reproduction in the subsequent year, for females that had invested into reproduction to varying degrees. Our results suggest that Soay sheep females experience costs both in terms of future survival and future reproduction. However, we found little evidence that estimated costs of reproduction vary depending on relative home range quality. There are several possible causes for the lack of a relationship between relative home range quality and our estimate of the costs experienced by females. These include the potential for a correlation between relative home range quality and reproductive allocation to mask a relationship between home range quality and reproductive costs, as well as the potential for the benefit of higher quality home ranges being offset by higher densities. Nevertheless, our results raise questions regarding the presence or context‐dependence of relationships between resource access and the estimated cost of reproduction.
Detection rates of colorectal neoplasia during colonoscopies and their associated factors in the SCREESCO study
Authors: Sekiguchi Masau , Westerberg Marcus , Ekbom Anders , Hultcrantz Rolf , Forsberg Anna 
Published: September 2022

AbstractBackground and AimColonoscopy quality, including lesion detectability, is variable, and factors influencing lesion detection are not fully understood. This study investigated lesion detection rates during colonoscopies and the associated factors in the SCREEning of Swedish COlons (SCREESCO) study.MethodsIn this cross‐sectional analysis of data from SCREESCO, a large‐scale randomized controlled trial of colorectal cancer screening in the Swedish population aged 60 years, we assessed data of first‐time colonoscopies performed in both colonoscopy and fecal immunochemical test (FIT) arms.ResultsThis study included 16 552 individuals. The adenoma detection rate was 23.9% and 37.8% in colonoscopy and FIT arms, respectively. Regarding colonoscopy procedures, a withdrawal time ≥ 6 min was associated with higher detection rates of advanced adenomas (adjusted odds ratio [AOR] 2.474, 95% confidence interval [CI] 1.295–4.723), adenomas (2.181, 1.515–3.140), and proximal serrated lesions (pSLs) (1.713, 1.007–2.915). Antispasmodic use was associated with higher detection rates of these lesions and sessile serrated lesions (SSLs) (AOR, 95% CI: 1.523, 1.295–1.791; 1.361, 1.217–1.522; 1.450, 1.247–1.687; and 1.810, 1.512–2.167, respectively). Insertion time > 20 min was related to lower detection rates of adenomas, pSLs, and SSLs (AOR, 95% CI: 0.753, 0.639–0.887; 0.640, 0.495–0.828; and 0.704, 0.518–0.955, respectively). The relationship between a recent period and higher detection rates of pSLs and SSLs was also demonstrated.ConclusionLesion detectability in SCREESCO was mostly acceptable with room for improvement. In addition to sufficient withdrawal time, antispasmodic use and acquiring skills enabling short insertion time may improve lesion detection.Trial registrationClinicalTrials.gov, ID: NCT02078804.
Acne and its post‐inflammatory hyperpigmentation treatment by applying anti‐acne dissolving microneedle patches
Authors: Tai Meiling , Zhang Chenggong , Ma Yonghao , Yang Jian , Mai Zhuoxian , Li Chengguo , Leng Gang 
Published: September 2022

AbstractObjectiveAcne is a significant problem in young people. At present, most acne treatment products are topically applied cosmetics, whose efficacy is limited by the stratum corneum. The dissolving microneedle technique can effectively deliver drug molecules into the body. In this study, dissolving microneedles containing anti‐acne ingredients were tested for human efficacy and safety.MethodsWe conducted a 28‐day clinical efficacy and safety trial on 30 individuals with visible facial acne. During the trial, anti‐acne microneedle (AA‐DMN) patches were applied to designated skin areas once daily for 28 consecutive days. Skin pigmentation was measured using a Courage + Khazaka skin melanin and hemoglobin test probe Mexameter MX18. Acne volume was measured using a Canfieldsci skin rapid optical imaging system PRIMOS. In addition, skin irritation was evaluated via self‐report and dermatologist's examination.ResultsThe AA‐DMN patches showed good efficacy including improvement of skin pigmentation and reduced acne volume. Acne volume was reduced by 12.34% after 3 days of patch use and further reduced by 10.01% after 7 continuous days of use. After 28 days of treatment, skin melanin decreased by 5.88% and heme decreased by 7.83%. No adverse reactions were observed in any of the participants.ConclusionsAnti‐acne microneedle patches showed an excellent effect in reducing acne and post‐inflammatory hyperpigmentation (PIH), without adverse skin reactions. The novel AA‐DMN patch is a safe and effective anti‐acne treatment.
Targeting SDF‐1 as an efficient strategy to resolve skin hyperpigmentation issues with Himanthalia elongata extract
Authors: Meunier Marie , Bracq Marine , Chapuis Emilie , Lapierre Laura , Humeau Anne , Bernard Sylvie , Lambert Carole , Paulus Chantal , Auriol Pascale , Lemagnen Perrine , Sandré Jérôme , Auriol Daniel , Scandolera Amandine , Reynaud Romain 
Published: September 2022

AbstractBackgroundDuring aging, human skin is facing hyperpigmentation disorders: senile lentigo (chronobiologic aging) leads to loss of melanogenesis' control while solar lentigo (UV exposure) promotes an increase of oxidized proteins, melanogenesis, and lipofuscin.AimsStromal‐cell‐derived‐factor‐1 (SDF‐1) was identified as key regulator of hyperpigmentation and its expression is reduced in senescent fibroblasts, highlighting this protein as new target for skin hyperpigmentation.MaterialsWe developed two skin explant models mimicking of senile and solar lentigo, based on H2O2 systemic treatment and UV irradiation, respectively. We evaluated Himanthalia elongata extract (HEX) on these models after 5 days of treatment and analyzed SDF‐1 expression and skin pigmentation. For solar lentigo, we also analyzed oxidized proteins and lipofuscin accumulation. Finally, we evaluated HEX in vivo on nearly 100 multi ethnicities' volunteers.ResultsSDF‐1 expression decreased in senile lentigo model, associated with hyperpigmentation. HEX application restored SDF‐1 expression, leading to skin pigmentation decrease. For solar lentigo, we showed an impact of UVs on SDF‐1 expression linked to hyperpigmentation, while the application of HEX restored SDF‐1 expression and reduced skin pigmentation. On same model, HEX reduced oxidized proteins quantity and lipofuscin which increased after UV exposure. Clinically, HEX reduced dark spot pigmentation on Caucasian volunteers' hands and on Asian and African volunteers' face after 28 days.DiscussionWe have developed ex vivo models mimetic of senile and solar lentigo and showed for a very first time that SDF‐1 can be also a key regulator for UV‐induced hyperpigmentation.ConclusionOur ex vivo and clinical studies highlighted the power of HEX with strong reduction of dark spots regardless of volunteers' ethnicities.