bluuebunny/crossref_metadata_2025_split huggingface dataset:
Normal feline reproduction: The tom
Authors: Johnson Aime K 
Published: February 2022

Practical relevance: Understanding the normal reproductive anatomy and physiology of the male cat is important for successful breeding. Veterinarians may be called in to troubleshoot when fertility and pregnancy rates decrease in a cattery. By understanding the normal physical parameters, as well as breeding behavior, the veterinarian is better equipped to assess the infertility issue. Also, clients are increasingly requesting breeding soundness examinations prior to mating or purchase. Semen collection is more difficult in the cat than in the dog but can still be accomplished in a clinical setting and provides important information when confronted with breeding males. Aim: The aim of this review is to provide a practical overview of the breeding male. The reader will receive information on time of puberty, normal reproductive anatomy (both external and internal), and breeding management practices to optimize fertility. The most up-to-date semen collection techniques are discussed, as are sedation/anesthesia options. Also, historical literature on the basic anatomy of the male reproductive system is reviewed, such as how the penile spines work and when they appear; this information is specific to the cat. Evidence base: The information in this article is based on the author’s experience, as well as drawing on historical and current literature, and provides the most up-to-date review as possible.
Comparison of peak expiratory Flow(PEF) and COPD assessment test (CAT) to assess COPD exacerbation requiring hospitalization: A prospective observational study
Authors: Cen Jie , Weng Lei 
Published: February 2022

Background: Acute exacerbation of chronic obstructive pulmonary disease (COPD) resulting in hospitalization is significantly associated with the increased morbidity and mortality, but there is a lack of an effective method to assess it. This study aimed to compare the ability of peak expiratory flow (PEF) and COPD assessment test (CAT) to assess COPD exacerbations requiring hospitalization. Methods : A cohort of 110 patients with moderate to severe COPD was studied over a period of 12 months, and their daily morning PEFs and CAT scores were recorded throughout the study. Results : After 12 months of follow-up, 72 patients experienced 156 COPD exacerbations, 74 (47%) that resulted in hospitalization and 82 (53%) that did not result in hospitalization. Change in CAT score from baseline to exacerbation was significantly related to change in PEF and Spearman’s rho =0.375 (95% CI, 0.227 to 0.506; p < .001). Change in PEF and CAT score from baseline to hospitalized exacerbation was significantly larger than that from baseline to non-hospitalized exacerbation (p < .05). Multivariable analysis indicated that ΔPEF (OR 1.11, 95% CI 1.06–1.16, p < .001) and ΔCAT (OR 1.64 95% CI 1.18–2.27, p = .003) were independently associated with risk of hospitalized exacerbation. ROC analysis indicated that the optimal cutoff value of ΔPEF for identifying hospitalized exacerbation was 49 L/min (27% from baseline), with a sensitivity and specificity of 82.7% and 76.7% (area under the curve [AUC] = 0.872 (95% CI 0.80–0.944, p < .05). The optimal cutoff value of ΔCAT score for identifying hospitalized exacerbation was 10.5 (63% from baseline), with a sensitivity and specificity of 67.3% and 77.4% [AUC]=0.763 (95% CI 0.67–0.857, p < .05). The AUC of ΔPEF and ΔCAT combined for the identification of hospitalized exacerbation was 0.900 (95% CI 0.841–0.959, p < .05), which was larger than that of ΔCAT or ΔPEF. Conclusions: ΔPEF and ΔCAT were independently associated with risk of hospitalized exacerbation. Compared with CAT, PEF was superior to identify hospitalized exacerbation. Identification via PEF and CAT combined is more effective than using PEF or CAT alone. These results help to assess the severity of COPD exacerbation and provide valuable information for clinical decision-making.
An investigation into the measurement properties of the King-Devick Eye Tracking system
Authors: Hecimovich M. , King D. , Murphy M. , Koyama K. 
Published: February 2022

Objectives Eye tracking has been gaining increasing attention as a possible assessment and monitoring tool for concussion. The King-Devick test (K-DT) was expanded to include an infrared video-oculography-based eye tracker (K-D ET). Therefore, the aim was to provide evidence on the reliability of the K-D ET system under an exercise condition. Methods Participants (N = 61; 26 male, 35 female; age range 19-25) were allocated to an exercise or sedentary group. Both groups completed a baseline K-D ET measurement and then either two 10-min exercise or sedentary interventions with repeated K-D ET measurements between interventions. Results The test-retest reliability of the K-D ET ranged from good to excellent for the different variables measured. The mean ± SD of the differences for the total number of saccades was 1.04 ± 4.01 and there was an observable difference (p = 0.005) in the trial number. There were no observable differences for the intervention (p = 0.768), gender (p = 0.121) and trial (p = 0.777) for average saccade’s velocity. The mean ± SD of the difference of the total fixations before and after intervention across both trials was 1.04 ± 3.63 and there was an observable difference in the trial number (p = 0.025). The mean ± SD of the differences for the Inter-Saccadic Interval and the fixation polyarea before and after intervention across both trials were 1.86 ± 22.99 msec and 0.51 ± 59.11 mm2 and no observable differences for the intervention, gender and trial. Conclusion The results provide evidence on the reliability of the K-D ET, and the eye-tracking components and demonstrate the relationship between completion time and other variables of the K-D ET system. This is vital as the use of the K-DT may be increasing and the combination of the K-DT and eye tracking as one single package highlights the need to specifically measure the reliability of this combined unit.
Anemia in the pediatric patient
Authors: Gallagher Patrick G. 
Published: February 2022

AbstractThe World Health Organization estimates that approximately a quarter of the world’s population suffers from anemia, including almost half of preschool-age children. Globally, iron deficiency anemia is the most common cause of anemia. Other important causes of anemia in children are hemoglobinopathies, infection, and other chronic diseases. Anemia is associated with increased morbidity, including neurologic complications, increased risk of low birth weight, infection, and heart failure, as well as increased mortality. When approaching a child with anemia, detailed historical information, particularly diet, environmental exposures, and family history, often yield important clues to the diagnosis. Dysmorphic features on physical examination may indicate syndromic causes of anemia. Diagnostic testing involves a stepwise approach utilizing various laboratory techniques. The increasing availability of genetic testing is providing new mechanistic insights into inherited anemias and allowing diagnosis in many previously undiagnosed cases. Population-based approaches are being taken to address nutritional anemias. Novel pharmacologic agents and advances in gene therapy-based therapeutics have the potential to ameliorate anemia-associated disease and provide treatment strategies even in the most difficult and complex cases.
HEATR3 variants impair nuclear import of uL18 (RPL5) and drive Diamond-Blackfan anemia
Authors: O’Donohue Marie-Françoise , Da Costa Lydie , Lezzerini Marco , Unal Sule , Joret Clément , Bartels Marije , Brilstra Eva , Scheijde-Vermeulen Marijn , Wacheul Ludivine , De Keersmaecker Kim , Vereecke Stijn , Labarque Veerle , Saby Manon , Lefevre Sophie D. , Platon Jessica , Montel-Lehry Nathalie , Laugero Nathalie , Lacazette Eric , van Gassen Koen , Houtkooper Riekelt H. , Simsek-Kiper Pelin Ozlem , Leblanc Thierry , Yarali Nese , Cetinkaya Arda , Akarsu Nurten A. , Gleizes Pierre-Emmanuel , Lafontaine Denis L. J. , MacInnes Alyson W. 
Published: February 2022

Abstract
The congenital bone marrow failure syndrome Diamond-Blackfan anemia (DBA) is typically associated with variants in ribosomal protein (RP) genes impairing erythroid cell development. Here we report multiple individuals with biallelic HEATR3 variants exhibiting bone marrow failure, short stature, facial and acromelic dysmorphic features, and intellectual disability. These variants destabilize a protein whose yeast homolog is known to synchronize the nuclear import of RPs uL5 (RPL11) and uL18 (RPL5), which are both critical for producing ribosomal subunits and for stabilizing the p53 tumor suppressor when ribosome biogenesis is compromised. Expression of HEATR3 variants or repression of HEATR3 expression in primary cells, cell lines of various origins, and yeast models impairs growth, differentiation, pre–ribosomal RNA processing, and ribosomal subunit formation reminiscent of DBA models of large subunit RP gene variants. Consistent with a role of HEATR3 in RP import, HEATR3-depleted cells or patient-derived fibroblasts display reduced nuclear accumulation of uL18. Hematopoietic progenitor cells expressing HEATR3 variants or small-hairpin RNAs knocking down HEATR3 synthesis reveal abnormal acceleration of erythrocyte maturation coupled to severe proliferation defects that are independent of p53 activation. Our study uncovers a new pathophysiological mechanism leading to DBA driven by biallelic HEATR3 variants and the destabilization of a nuclear import protein important for ribosome biogenesis.
The transcriptomic responses of blunt snout bream (Megalobrama amblycephala) to acute hypoxia stress alone, and in combination with bortezomib
Authors: Zhao Shan-Shan , Su Xiao-Lei , Pan Rong-Jia , Lu Li-Qun , Zheng Guo-Dong , Zou Shu-Ming 
Published: February 2022

Abstract
Background
Blunt snout bream (Megalobrama amblycephala) is sensitive to hypoxia. A new blunt snout bream strain, “Pujiang No.2”, was developed to overcome this shortcoming. As a proteasome inhibitor, bortezomib (PS-341) has been shown to affect the adaptation of cells to a hypoxic environment. In the present study, bortezomib was used to explore the hypoxia adaptation mechanism of “Pujiang No.2”. We examined how acute hypoxia alone (hypoxia-treated, HN: 1.0 mg·L− 1), and in combination with bortezomib (hypoxia-bortezomib-treated, HB: Use 1 mg bortezomib for 1 kg fish), impacted the hepatic ultrastructure and transcriptome expression compared to control fish (normoxia-treated, NN).

Results
Hypoxia tolerance was significantly decreased in the bortezomib-treated group (LOEcrit, loss of equilibrium, 1.11 mg·L− 1 and 1.32 mg·L− 1) compared to the control group (LOEcrit, 0.73 mg·L− 1 and 0.85 mg·L− 1). The HB group had more severe liver injury than the HN group. Specifically, the activities of alanine aminotransferase (ALT) and aspartate aminotransferase (AST) in the HB group (52.16 U/gprot, 32 U/gprot) were significantly (p < 0.01) higher than those in the HN group (32.85 U/gprot, 21. 68 U/gprot). In addition, more severe liver damage such as vacuoles, nuclear atrophy, and nuclear lysis were observed in the HB group. RNA-seq was performed on livers from the HN, HB and NN groups. KEGG pathway analysis disclosed that many DEGs (differently expressed genes) were enriched in the HIF-1, FOXO, MAPK, PI3K-Akt and AMPK signaling pathway and their downstream.

Conclusion
We explored the adaptation mechanism of “Pujiang No.2” to hypoxia stress by using bortezomib, and combined with transcriptome analysis, accurately captured the genes related to hypoxia tolerance advantage.
Variants associated with Bedaquiline (BDQ) resistance identified in Rv0678 and efflux pump genes in Mycobacterium tuberculosis isolates from BDQ naïve TB patients in Pakistan
Authors: Saeed Dania Khalid , Shakoor Sadia , Razzak Safina Abdul , Hasan Zahra , Sabzwari Saba Faraz , Azizullah Zahida , Kanji Akbar , Nasir Asghar , Shafiq Samreen , Ghanchi Najia Karim , Hasan Rumina 
Published: February 2022

AbstractBackgroundMutations in theRv0678,pepQandatpEgenes ofMycobacterium tuberculosis(MTB) have been reported to be associated with reduced antimycobacterial susceptibility to bedaquiline (BDQ). Resistance conferring mutations in treatment naïve MTB strains is likely to have implications for BDQ based new drug regimen that aim to shorten treatment duration. We therefore investigated the genetic basis of resistance to BDQ in MTB clinical isolates from BDQ naïve TB patients from Pakistan. In addition, mutations in genes associated with efflux pumps were investigated as an alternate mechanism of resistance.MethodsBased on convenience sampling, we studied 48 MTB clinical isolates from BDQ naïve TB patients. These isolates (from our strain bank) included 38 MDR/pre-XDR/XDR (10 BDQ resistant, 8 BDQ intermediate and 20 BDQ susceptible) and 10 pan drug susceptible MTB isolates. All strains were subjected to whole genome sequencing and genomes were analysed to identify variants inRv0678, pepQ,atpE, Rv1979c, mmpLS and mmpL5and drug resistance associated efflux pump genes.ResultsOf the BDQ resistant and intermediate strains 44% (8/18) had variants inRv0678including; two reported mutations S63R/G, six previously unreported variants; L40F, R50Q and R107C and three frameshift mutations; G25fs, D64fs and D109fs.Variants in efflux pumps;Rv1273c(G462K),Rv0507c(R426H) andRv1634c(E198R) were found to be present in drug resistant isolates including BDQ resistant and intermediate isolates. E198R in efflux pump geneRv1634cwas the most frequently occurring variant in BDQ resistant and intermediate isolates (n = 10).ConclusionWe found RAVs inRv0678to be commonly associated with BDQ resistance. Further confirmation of the role of variants in efflux pump genes in resistance is required so that they may be incorporated in genome-based diagnostics for drug resistant MTB.
Complete sputum smear monitoring among adults with pulmonary tuberculosis in central Uganda: evidence from a retrospective cohort study
Authors: Nsubuga Ronald , Adrawa Norbert , Okoboi Stephen , Komuhangi Alimah , Izudi Jonathan 
Published: February 2022

Abstract
Background
People with bacteriologically confirmed pulmonary tuberculosis require sputum smear monitoring at 2, 5, and 6 months to establish treatment outcomes. However, there is limited information about sputum smear monitoring in Uganda, similar to other developing countries. We examined factors associated with complete sputum smear monitoring among persons with bacteriologically confirmed pulmonary TB aged ≥ 15 years in central Uganda.

Methods
We retrospectively reviewed and abstracted data for persons with bacteriologically confirmed pulmonary TB initiated on treatment between January 2017 and December 2019 across 11 large TB units in Masaka district in central Uganda. Complete sputum smear monitoring was measured as the receipt of three sputum smear microscopy tests at 2, 5, and 6 months of TB treatment. The data were summarized descriptively and the differences in the outcome with independent variables were examined using tests of statistical significance, namely the Chi-square or Fisher’s exact test and the student’s t-test. The factors independently associated with the outcome were established using the modified Poisson regression analysis with robust standard errors, reported as adjusted risk ratio (aRR) along with the 95% confidence interval (CI).

Results
A total of 416 participants were enrolled, with a mean age of 37.3 ± 12.9 years. Of the participants, 290 (69.7) were males, 269 (64.7) were rural residents, and 128 (30.8%) had complete sputum smear monitoring. Urban residence (aRR, 1.45; 95% CI 1.12–1.90) and treatment under the community-based directly observed therapy short-course strategy (DOTS) (aRR, 1.91; 95% CI 1.25–2.92) were associated with a higher likelihood of complete sputum smear monitoring while TB and human immunodeficiency virus (TB/HIV) comorbidity (aRR 0.45, 95% CI 0.30–0.68) was associated with a lower likelihood of complete sputum smear monitoring.

Conclusions
We found a low magnitude of complete sputum smear monitoring among persons with bacteriologically confirmed pulmonary TB aged ≥ 15 years in central Uganda. Strategies to enhance the performance of sputum smear monitoring should target rural health facilities, strengthen TB/HIV collaboration and the implementation of community-based DOTS.
Applying reflective multicriteria decision analysis to understand the value of therapeutic alternatives in the management of gestational and peripartum anaemia in Spain
Authors: Casellas Caro Manel , Hidalgo María Jesús Cancelo , García-Erce José Antonio , Baquero Úbeda José Luis , Torras Boatella Maria Glòria , Gredilla Díaz Elena , Ruano Encinar Margarita , Martín Bayón Israel , Nicolás Picó Jordi , Arjona Berral José Eduardo , Muñoz Solano Alberto , Jiménez Merino Silvia , Cerezales Mónica , Cuervo Jesús 
Published: February 2022

Abstract
Background
The objective of the FeminFER project was to assess the value of ferric carboxymaltose following a multicriteria decision analysis in obstetrics and gynaecology in Spain.

Methods
Ferric carboxymaltose (FCM) and ferrous sulphate were evaluated using the EVIDEM framework. Ten stakeholders participated to collect different perspectives. The framework was adapted considering evidence retrieved with a PICO-S search strategy and grey literature. Criteria/subcriteria were weighted by level of relevance and an evidence-based decision-making exercise was developed in each criterion; weights and scores were combined to obtain the value of intervention relative to each criterion/subcriterion, that were further combined into the Modulated Relative Benefit-Risk Balance (MRBRB).

Results
The most important criterion favouring FCM was Compared Efficacy/Effectiveness (0.183 ± 0.07), followed by Patient Preferences (0.059 ± 0.10). Only Direct medical costs criterion favoured FS (-0.003 ± 0.03). MRBRB favoured FCM; 0.45 ± 0.19; in a scale from -1 to + 1.

Conclusions
In conclusion, considering the several criteria involved in the decision-making process, participants agreed with the use of FCM according to its MRBRB.
Patient-centred consent in women’s health: does it really work in antenatal and intra-partum care?
Authors: Nicholls Jacqueline , David Anna L , Iskaros Joseph , Lanceley Anne 
Published: February 2022

AbstractBackgroundLegal and social changes mean that information sharing and consent in antenatal and intrapartum settings is contentious, poorly understood and uncertain for healthcare professionals. This study aimed to investigate healthcare professionals’ views and experiences of the consent process in antenatal and intrapartum care.MethodsQualitative research performed in a large urban teaching hospital in London. Fifteen healthcare professionals (obstetricians and midwives) participated in semi-structured in-depth interviews. Data were collectively analysed to identify themes in the experiences of the consent process.ResultsThree themes were identified: (1) Shared decision-making and shared responsibility –engaging women in dialogue is often difficult and, even when achieved, women are not always able or do not wish to share responsibility for decisions (2) Second-guessing women – assessing what is important to a woman is inherently difficult so healthcare professionals sometimes feel forced to anticipate a woman’s views (3) Challenging professional contexts – healthcare professionals are disquieted by consent practice in the Labour ward setting which is often at odds with legal and professional guidance.ConclusionsResults suggest that there is a mismatch between what is required of healthcare professionals to effect an antenatal or intrapartum consent process concordant with current legal and professional guidance and what can be achieved in practice. If consent, as currently articulated, is to remain the barometer for current practice, healthcare professionals need more support in ways of enabling women to make decisions which healthcare professionals feel confident are autonomous whatever the circumstances of the consultation.
Prevalence of specific and recurrent/founder pathogenic variants in BRCA genes in breast and ovarian cancer in North Africa
Authors: ElBiad Oubaida , Laraqui Abdelilah , El Boukhrissi Fatima , Mounjid Chaimaa , Lamsisi Maryame , Bajjou Tahar , Elannaz Hicham , Lahlou Amine Idriss , Kouach Jaouad , Benchekroune Khadija , Oukabli Mohammed , Chahdi Hafsa , Ennaji Moulay Mustapha , Tanz Rachid , Sbitti Yassir , Ichou Mohammed , Ennibi Khalid , Badaoui Bouabid , Sekhsokh Yassine 
Published: February 2022

AbstractBackgroundElucidation of specific and recurrent/founder pathogenic variants (PVs) inBRCA(BRCA1andBRCA2) genes can make the genetic testing, for breast cancer (BC) and/or ovarian cancer (OC), affordable for developing nations.MethodsTo establish the knowledge aboutBRCAPVs and to determine the prevalence of the specific and recurrent/founder variants inBRCAgenes in BC and/or OC women in North Africa, a systematic review was conducted in Morocco, Algeria, and Tunisia.ResultsSearch of the databases yielded 25 relevant references, including eleven studies in Morocco, five in Algeria, and nine in Tunisia. Overall, 15 studies investigated bothBRCA1andBRCA2genes, four studies examined the entire coding region of theBRCA1gene, and six studies in which the analysis was limited to a fewBRCA1and/orBRCA2exons. Overall, 76 PVs (44 inBRCA1and32 inBRCA2) were identified in 196 BC and/or OC patients (129BRCA1and 67BRCA2carriers). Eighteen of the 76 (23.7%) PVs [10/44 (22.7%) inBRCA1and 8/32 (25%) inBRCA2] were reported for the first time and considered to be novel PVs. Among those identified as unlikely to be of North African origin, theBRCA1c.68_69del andBRCA1c.5266dupC Jewish founder alleles and PVs that have been reported as recurrent/founder variants in European populations (ex:BRCA1c.181T>G,BRCA1c1016dupA). The most well characterized PVs are four inBRCA1gene [c.211dupA (14.7%), c.798_799detTT (14%), c.5266dup (8.5%), c.5309G>T (7.8%), c.3279delC (4.7%)] and one inBRCA2[c.1310_1313detAAGA (38.9%)]. The c.211dupA and c.5309G>T PVs were identified as specific founder variants in Tunisia and Morocco, accounting for 35.2% (19/54) and 20.4% (10/49) of total establishedBRCA1PVs, respectively. c.798_799delTT variant was identified in 14% (18/129) of allBRCA1North African carriers, suggesting a founder allele. A broad spectrum of recurrent variants includingBRCA13279delC,BRCA1c.5266dup andBRCA2c.1310_1313detAAGA was detected in 42 patients.BRCA1founder variants explain around 36.4% (47/129) of BC and outnumberBRCA2founder variants by a ratio of ≈3:1.ConclusionsTesting BC and/or OC patients for the panel of specific and recurrent/founder PVs might be the most cost-effective molecular diagnosis strategy.