bluuebunny/crossref_metadata_2025_split huggingface dataset:
The levels of TGFβ1, VEGF, PDGF-BB, and PF4 in platelet-rich plasma of professional soccer players: a cross-sectional pilot study
Authors: Mochizuki Tomoharu , Ushiki Takashi , Watanabe Satoshi , Omori Go , Kawase Tomoyuki 
Published: October 2022

Abstract
Background
Regenerative therapy using platelet-rich plasma (PRP), a rich source of growth factors, has become popular in orthopedic sports medicine. Elite athletes prefer PRP therapy for their injured muscles and tendons primarily to avoid the possible risks of surgical treatment. However, the clinical effectiveness of PRP therapy in elite athletes compared to that in non-athletes remains unknown. Therefore, to investigate the effectiveness of PRP therapy in professional athletes (pro-athletes), we focused on the quality of PRP preparations and compared the levels of bioactive molecules between pro-athletes and non-athletes.

Methods
PRP was prepared from healthy, non-smoking male professional soccer players (pro-athletes) (n = 22) and non-athletes (VEGF: n = 34, others: n = 38). The levels of TGFβ1, PDGF-BB, VEGF, and PF4 were determined using ELISA kits. Polyphosphate was probed with 4’,6-diamidino-2-phenylindole and monitored using a fluorometer. The body composition of the donors was determined using a bathroom weighing scale.

Results
The levels of TGFβ1 and VEGF were significantly lower in pro-athletes than in non-athletes, whereas PF4 levels were significantly higher in pro-athletes. No significant difference was found in PDGF-BB levels between these groups. Biomolecule levels were not correlated with polyphosphate levels.

Conclusion
TGFβ1, VEGF, and PDGF-BB levels in pro-athletes were not higher than those in non-athletes. These findings suggest that growth factor levels in PRP may not be a predominant determinant of the clinical effectiveness of PRP therapy in pro-athletes. Increased PF4 levels in pro-athletes suggest an immunological function of PRP that may positively influence tissue regeneration.
Clinical features and outcomes of congenital chylothorax: a single tertiary medical center experience in China
Authors: Wang Beibei , Feng Yun , Guo Yan , Kan Qing , Zou Yunsu , Wu Yue , Zheng Mingming , Cheng Rui 
Published: October 2022

Abstract
Objective
Congenital chylothorax (CC) is an uncommon congenital disease. The objective of this study was to analyze the clinical features, treatment, and outcome of infants with CC in a Chinese tertiary medical center.

Methods
CC was defined as a non-traumatic pleural effusion with ≥ 80% lymphocytes detected before birth or within 28 days after birth. Clinical data were collected in CC infants discharged from June 2017 to March 2021.

Results
A total of 24 CC infants were discharged during the study period, accounting for 67% of congenital pleural effusions. The median gestational age at birth was 36+4 weeks (range 29+5–41 weeks) and the birth weight was 3025 g (range 1850–4250 g). Twenty-one infants were diagnosed antenatally. The median gestational age at the time of diagnosis was 30+3 weeks (range 24–36+6 weeks). Nine infants presented with hydrops fetalis; 18 were bilateral. Prenatal interventions were performed in 13 fetuses. Nine infants (38%) had birth asphyxia. Compared with the infants without hydrops fetalis, the infants with CC and hydrops fetalis had lower Apgar scores at 1 and 5 min (P < 0.05) and a lower gestational age at birth (P < 0.05). Postnatally, 17 infants required continuous pleural drainage for 10 days (range 2–30 days). Analysis of the pleural effusion showed a higher cell count, lymphocyte fraction, and protein content after enteral feeding (P < 0.05). Fifteen infants required mechanical ventilation; 9 did not require any respiratory support. Ten infants received a delayed feeding strategy and 17 received a medium-chain triglyceride (MCT) formula. Only 1 infant received octreotide therapy. Twenty-one infants survived and 3 died. The main cause of death was pulmonary dysplasia. The duration of hospital stay in survivors was 21.5 days (range 10–43) days. For infants with CC and hydrops fetalis, prenatal therapy shortened the duration of pleural drainage and the length of hospital stay (P < 0.05).

Conclusion
CC is the most common cause of congenital pleural effusions. The poor prognosis is mainly associated with prematurity, hydrops fetalis, and pulmonary dysplasia. Prenatal intervention may improve the outcome of infants with hydrops fetalis.
Sanfilippo syndrome: consensus guidelines for clinical care
Authors: Muschol Nicole , Giugliani Roberto , Jones Simon A. , Muenzer Joseph , Smith Nicholas J. C. , Whitley Chester B. , Donnell Megan , Drake Elise , Elvidge Kristina , Melton Lisa , O’Neill Cara ,   MPS III Guideline Development Group
Published: October 2022

AbstractSanfilippo syndrome is a group of rare, complex, and progressive neurodegenerative lysosomal storage disorders that is characterized by childhood dementia. The clinical management of patients with progressive neurological decline and multisystem involvement requires a multidisciplinary team with experience in the management of neurodegenerative disorders. Best practice guidelines for the clinical management of patients with these types of rare disorders are critical to ensure prompt diagnosis and initiation of appropriate care. However, there are no published standard global clinical care guidelines for patients with Sanfilippo syndrome. To address this, a literature review was conducted to evaluate the current evidence base and to identify evidence gaps. The findings were reviewed by an international steering committee composed of clinical experts with extensive experience in managing patients with Sanfilippo syndrome. The goal was to create a consensus set of basic clinical guidelines that will be accessible to and informed by clinicians globally, as well as providing a practical resource for families to share with their local care team who may not have experience with this rare disease. This review distills 178 guideline statements into an easily digestible document that provides evidence-based, expert-led recommendations for how to approach common management challenges and appropriate monitoring schedules in the care of patients with Sanfilippo syndrome.
Whole exome sequencing in Brugada and long QT syndromes revealed novel rare and potential pathogenic mutations related to the dysfunction of the cardiac sodium channel
Authors: Chen Jia , Li Hong , Guo Sicheng , Yang Zhe , Sun Shaoping , Zeng JunJie , Gou Hongjuan , Chen Yechang , Wang Feng , Lin Yanping , Huang Kun , Yue Hong , Ma Yuting , Lin Yubi 
Published: October 2022

Abstract
Background
Brugada syndrome (Brs) and long QT syndrome (LQTs) are the most observed “inherited primary arrhythmia syndromes” and “channelopathies”, which lead to sudden cardiac death.

Methods
Detailed clinical information of Brs and LQTs patients was collected. Genomic DNA samples of peripheral blood were conducted for whole-exome sequencing on the Illumina HiSeq 2000 platform. Then, we performed bioinformatics analysis for 200 genes susceptible to arrhythmias and cardiomyopathies. Protein interaction and transcriptomic co-expression were analyzed using the online website and GTEx database.

Results
All sixteen cases of Brs and six cases of LQTs were enrolled in the current study. Four Brs carried known pathogenic or likely pathogenic of single-point mutations, including SCN5A p.R661W, SCN5A p.R965C, and KCNH2 p.R692Q. One Brs carried the heterozygous compound mutations of DSG2 p.F531C and SCN5A p.A1374S. Two Brs carried the novel heterozygous truncated mutations (MAF < 0.001) of NEBL (p.R882X) and NPPA (p.R107X), respectively. Except for the indirect interaction between NEBL and SCN5A, NPPA directly interacts with SCN5A. These gene expressions had a specific and significant positive correlation in myocardial tissue, with high degrees of co-expression and synergy. Two Brs carried MYH7 p.E1902Q and MYH6 p.R1820Q, which were predicted as "damaging/possibly damaging" and "damaging/damaging" by Polyphen and SIFT algorithm. Two LQTs elicited the pathogenic single splicing mutation of KCNQ1 (c.922-1G > C). Three LQTs carried a single pathogenic mutation of SCN5A p.R1880H, KCNH2 p.D161N, and KCNQ1 p.R243S, respectively. One patient of LQTs carried a frameshift mutation of KCNH2 p. A188Gfs*143.

Conclusions
The truncated mutations of NEBL (p.R882X) and NPPA (p.R107X) may induce Brugada syndrome by abnormally affecting cardiac sodium channel. SCN5A (p.R661W, p.R965C and p.A1374S) and KCNH2 (p.R692Q) may cause Brugada syndrome, while SCN5A (p.R1880H), KCNQ1 (c.922-1G > C and p.R243S) and KCNH2 (p.D161N and p.A188Gfs*143) may lead to long QT syndrome.
Expert Group Consensus on early diagnosis and management of infantile-onset pompe disease in the Gulf Region
Authors: Al-Hassnan Zuhair , Hashmi Nadia Al , Makhseed Nawal , Omran Tawfeg Ben , Al Jasmi Fatma , Teneiji Amal Al 
Published: October 2022

Abstract
Background:
Infantile-onset Pompe disease (IOPD) is a rare and devastating, autosomal recessive lysosomal storage disorder that manifests immediately after birth. In severe IOPD cases, complete/almost-complete acid alpha-glucosidase enzyme deficiency is observed. Considering the rapid progression of the disease, timely diagnosis and treatment are important; even slight delays can remarkably alter the course of the disease. Enzyme replacement therapy (ERT) with recombinant human acid alpha-glucosidase is safe and beneficial for IOPD patients. However, there is heterogeneity in the patient response to ERT. The factors influencing treatment effectiveness include the patient’s age at the time of treatment initiation, pre-existing muscle damage, and cross-reactive immunologic material (CRIM) status at baseline. Immunomodulation along with ERT is the recently developed therapeutic approach that has been included in the therapeutic armamentarium of IOPD for optimizing clinical benefits, particularly in CRIM-negative IOPD patients. However, there is a dearth of published data on the early diagnosis and clinical position of the immunomodulation protocol along with ERT in the treatment of IOPD in the Gulf region.

Methods and results:
Expert panel meetings, involving six experts from the Kingdom of Saudi Arabia, Kuwait, Oman, Qatar, and the United Arab Emirates, were convened to develop consensus-based recommendations addressing current diagnostic and management challenges for patients with IOPD in the Gulf region. Furthermore, this consensus guideline may be implemented in clinical practice for the timely diagnosis and management of patients with IOPD.

Conclusion:
The expert consensus will help clinicians to make appropriate and timely decisions regarding immunomodulation initiation and ERT treatment in IOPD patients in the Gulf region.
Parental coping with uncertainties along the severe combined immunodeficiency journey
Authors: Kutsa Oksana , Andrews Sara M. , Mallonee Erin , Gwaltney Angela , Creamer Alissa , Han Paul K. J. , Raspa Melissa , Biesecker Barbara B. 
Published: October 2022

AbstractBackgroundSevere combined immunodeficiency (SCID) is a group of rare genetic disorders that cause disruption in immune system functioning. Parents of children with SCID experience many uncertainties related to their child’s diagnosis, treatment, recovery, and quality of life. To fully understand parents’ experiences throughout their SCID journey, it is important to explore the stressors generated by such uncertainties and how parents cope with these stressors.MethodsWe conducted 26 in-depth interviews with parents whose child was diagnosed with SCID or a SCID-like condition through newborn screening. The interviews explored uncertainties related to their child’s diagnosis and how parents coped with these uncertainties. Transcripts were generated from the interviews and analyzed using an inductive content analysis approach which included data immersion, generation and assignment of codes, and interpretation.ResultsParents used a variety of behavioral, cognitive, and affective coping strategies which evolved throughout their SCID journeys. Some parents reported coping by playing an active role in their child’s treatment, which included reaching out to other SCID parents or seeking second medical opinions. Other types of coping included establishing house hygiene rules, thinking positively about the child’s treatment progress, and relying on family members for help. These coping strategies were both deliberate and intuitive. Participants also described their struggles in coping with stressors related to their child’s health and survival. They reported difficulty in processing their emotions and experiencing denial and guilt related to their child’s diagnosis. Some parents adapted to ongoing uncertainties through such strategies as positive thinking, self-reflection, and relying on family and community. With successful adaptation, parents emphasized that they continue to use these strategies today.ConclusionOur assessment revealed that parents of children diagnosed with SCID use a variety of behavioral, cognitive, and affective approaches to cope with SCID uncertainties. Although parents reported challenges in coping with SCID uncertainties, they also reported finding ways to overcome these stressors and establish patterns of effective coping. Findings from our study can serve as a guide for parents whose child was newly diagnosed with SCID and for providers such as social workers, genetic counselors, and psychologists.
Transitioning of protein substitutes in patients with phenylketonuria: evaluation of current practice
Authors: Yilmaz Ozlem , Pinto Alex , Daly Anne , Ashmore Catherine , Evans Sharon , Yabanci Ayhan Nurcan , MacDonald Anita 
Published: October 2022

Abstract
Background
In children with phenylketonuria (PKU), transitioning protein substitutes at the appropriate developmental age is essential to help with their long-term acceptance and ease of administration. We assessed the parental experiences in transitioning from a second stage to third stage liquid or powdered protein substitute in patients with PKU.

Results
Sixteen interviews (23 open-ended questions) were carried out with parents/caregivers of children with PKU (8 females, 50%) with a median age of 8 years (range 5–11 years), continuously treated with diet, and on a third stage protein substitute. Parents/caregivers identified common facilitators and barriers during the third stage protein substitute transition process. The main facilitators were: child and parent motivation, parent knowledge of the transition process, a role model with PKU, low volume and easy preparation of the third stage protein substitute (liquid/powder), anticipation of increasing child independence, lower parent workload, attractive packaging, better taste and smell, school and teacher support, dietetic plans and guidance, PKU social events, child educational materials and written resources. The main barriers were child aversion to new protein substitutes, poor child behaviour, child aged > 5 years, parental fear of change, the necessity for parental time and persistence, loss of parental control, high product volume, different taste, smell, and texture of new protein substitutes, and peer bullying.

Conclusion
A stepwise, supportive approach is necessary when transitioning from second to third stage protein substitutes in PKU. Future studies are needed to develop guidance to assist parents/caregivers, health professionals, and teachers during the transition process.
Remarkably low host specificity in the bat fly Penicillidia fulvida (Diptera: Nycteribiidae) as assessed by mitochondrial COI and nuclear 28S sequence data
Authors: Verrett Taylor B. , Webala Paul W. , Patterson Bruce D. , Dick Carl W. 
Published: October 2022

Abstract
Background
The recognition and delineation of morphologically indistinguishable cryptic species can have broad implications for wildlife conservation, disease ecology and accurate estimates of biodiversity. Parasites are intriguing in the study of cryptic speciation because unique evolutionary pressures and diversifying factors are generated by ecological characteristics of host-parasite relationships, including host specificity. Bat flies (Diptera: Nycteribiidae and Streblidae) are obligate, hematophagous ectoparasites of bats that generally exhibit high host specificity. One rare exception is Penicillidia fulvida (Diptera: Nycteribiidae), an African bat fly found in association with many phylogenetically distant hosts. One explanation for P. fulvida’s extreme polyxeny is that it may represent a complex of host-specific yet cryptic species, an increasingly common finding in molecular genetic studies of supposed generalist parasites.

Methods
A total of 65 P. fulvida specimens were collected at 14 localities across Kenya, from bat species representing six bat families. Mitochondrial cytochrome c oxidase subunit 1 (COI) and nuclear 28S ribosomal RNA (rRNA) sequences were obtained from 59 specimens and used to construct Bayesian and maximum likelihood phylogenies. Analysis of molecular variance was used to determine how genetic variation in P. fulvida was allocated among host taxa.

Results
The 28S rRNA sequences studied were invariant within P. fulvida. Some genetic structure was present in the COI sequence data, but this could be more parsimoniously explained by geography than host family.

Conclusions
Our results support the status of P. fulvida as a rare example of a single bat fly species with primary host associations spanning multiple bat families. Gene flow among P. fulvida utilizing different host species may be promoted by polyspecific roosting behavior in bats, and host preference may also be malleable based on bat assemblages occupying shared roosts. The proclivity of generalist parasites to switch hosts makes them more likely to vector or opportunistically transmit pathogens across host species boundaries. Consequently, the presence of polyxenous bat flies is an important consideration to disease ecology as bat flies become increasingly known to be associated with bat pathogens.

Graphical Abstract
The lung microbiome, peripheral gene expression, and recurrence-free survival after resection of stage II non-small cell lung cancer
Authors: Peters Brandilyn A. , Pass Harvey I. , Burk Robert D. , Xue Xiaonan , Goparaju Chandra , Sollecito Christopher C. , Grassi Evan , Segal Leopoldo N. , Tsay Jun-Chieh J. , Hayes Richard B. , Ahn Jiyoung 
Published: October 2022

AbstractBackgroundCancer recurrence after tumor resection in early-stage non-small cell lung cancer (NSCLC) is common, yet difficult to predict. The lung microbiota and systemic immunity may be important modulators of risk for lung cancer recurrence, yet biomarkers from the lung microbiome and peripheral immune environment are understudied. Such markers may hold promise for prediction as well as improved etiologic understanding of lung cancer recurrence.MethodsIn tumor and distant normal lung samples from 46 stage II NSCLC patients with curative resection (39 tumor samples, 41 normal lung samples), we conducted 16S rRNA gene sequencing. We also measured peripheral blood immune gene expression with nanoString®. We examined associations of lung microbiota and peripheral gene expression with recurrence-free survival (RFS) and disease-free survival (DFS) using 500 × 10-fold cross-validated elastic-net penalized Cox regression, and examined predictive accuracy using time-dependent receiver operating characteristic (ROC) curves.ResultsOver a median of 4.8 years of follow-up (range 0.2–12.2 years), 43% of patients experienced a recurrence, and 50% died. In normal lung tissue, a higher abundance of classes Bacteroidia and Clostridia, and orders Bacteroidales and Clostridiales, were associated with worse RFS, while a higher abundance of classes Alphaproteobacteria and Betaproteobacteria, and orders Burkholderiales and Neisseriales, were associated with better RFS. In tumor tissue, a higher abundance of orders Actinomycetales and Pseudomonadales were associated with worse DFS. Among these taxa, normal lung Clostridiales and Bacteroidales were also related to worse survival in a previous small pilot study and an additional independent validation cohort. In peripheral blood, higher expression of genes TAP1, TAPBP, CSF2RB, and IFITM2 were associated with better DFS. Analysis of ROC curves revealed that lung microbiome and peripheral gene expression biomarkers provided significant additional recurrence risk discrimination over standard demographic and clinical covariates, with microbiome biomarkers contributing more to short-term (1-year) prediction and gene biomarkers contributing to longer-term (2–5-year) prediction.ConclusionsWe identified compelling biomarkers in under-explored data types, the lung microbiome, and peripheral blood gene expression, which may improve risk prediction of recurrence in early-stage NSCLC patients. These findings will require validation in a larger cohort.
First evidence of Proganochelys quenstedtii (Testudinata) from the Plateosaurus bonebeds (Norian, Late Triassic) of Frick, Canton Aargau, Switzerland
Authors: Scheyer Torsten M. , Klein Nicole , Evers Serjoscha W. , Mautner Anna-Katharina , Pabst Ben 
Published: October 2022

AbstractProganochelys quenstedtiirepresents the best-known stem turtle from the Late Triassic, with gross anatomical and internal descriptions of the shell, postcranial bones and skull based on several well-preserved specimens from Central European fossil locations. We here report on the first specimen ofP. quenstedtiifrom the Late Triassic (Klettgau Formation) Frickberg near the town of Frick, Canton Aargau, Switzerland. Similar to other Late Triassic ‘Plateosaurus-bearing bonebeds’,Proganochelysis considered to be a rare faunal element in the Swiss locality of Frick as well. The specimen, which is largely complete but was found only partially articulated and mixed with largePlateosaurusbones, overall resembles the morphology of the classical specimens from Germany. Despite being disarticulated, most skull bones could be identified and micro-computed tomography (CT) scanning of the posterior skull region reveals new insights into the braincase and neurovascular anatomy, as well as the inner ear region. These include the presence of a fenestra perilymphatica, potentially elongated cochlear ducts, and intense vascularization of small tubercles on the posterior end of the skull roof, which we interpret as horn cores. Other aspects of the skull in the braincase region, such as the presence or absence of a supratemporal remain ambiguous due to the fusion of individual bones and thus lack of visible sutures (externally and internally). Based on the size of the shell and fusion of individual elements, the specimen is interpreted as a skeletally mature animal.