bluuebunny/crossref_metadata_2025 huggingface dataset:
Diagnostic and economic evaluation of a point-of-care test for respiratory syncytial virus
Authors: Allen A. Joy , Gonzalez-Ciscar Andrea , Lendrem Clare , Suklan Jana , Allen Karen , Bell Ashley , Baxter Frances , Crulley Stephen , Fairlie Louise , Hardy Danielle , Johnston Louise , McKenna Joanne , Richards Nicole , Shovlin Gavin , Simmister Clare , Waugh Sheila , Woodsford Philip , Graziadio Sara , Power Michael , Simpson A. John , Kumar Prashant , Eastham Katherine , Brodlie Malcolm
Published: August 2020

Respiratory syncytial virus is a common cause of bronchiolitis. Historically, point-of-care tests have involved antigen detection technology with limited sensitivity. The aim of this study was to prospectively evaluate the diagnostic accuracy and model the economic impact of the Roche cobas® Liat® point-of-care influenza A/B and respiratory syncytial virus test.

The “DEC-RSV” study was a multi-centre, prospective, observational study in children under 2 years presenting with viral respiratory symptoms. A nasopharyngeal aspirate sample was tested using the point-of-care test and standard laboratory-based procedures. The primary outcome was accuracy of respiratory syncytial virus detection. The cost implications of adopting a point-of-care test were modelled using study data.

A total of 186 participants were recruited, with both tests performed on 177 samples. The point-of-care test was invalid for 16 samples (diagnostic yield 91%) leaving 161 available for primary analysis. After resolving discrepancies, the cobas® Liat® respiratory syncytial virus test had 100.00% (95% CI 96.07%–100.00%) sensitivity and 98.53% (95% CI 92.08%–99.96%) specificity. Median time to result was 0.6 h (interquartile range (IQR) 0.5–1) for point-of-care testing and 28.9 h (IQR 26.3–48.1) for standard laboratory testing. Estimated non-diagnostic cost savings for 1000 patients, based on isolation decision-making on point-of-care test result, were £57 010, which would increase to £94 847 when cohort nursing is used.

In young children the cobas® Liat® point-of-care respiratory syncytial virus test has high diagnostic accuracy using nasopharyngeal aspirates (currently an off-licence sample type). Time to result is clinically important and was favourable compared to laboratory-based testing. The potential exists for cost savings when adopting the point-of-care test.
The prognostic value of cardiopulmonary exercise testing in interstitial lung disease: a systematic review
Authors: Barratt Shaney L. , Davis Richard , Sharp Charles , Pauling John D.
Published: August 2020

The heterogeneity of interstitial lung disease (ILD) results in prognostic uncertainty concerning end-of-life discussions and optimal timing for transplantation. Effective prognostic markers and prediction models are needed. Cardiopulmonary exercise testing (CPET) provides a comprehensive assessment of the physiological changes in the respiratory, cardiovascular and musculoskeletal systems in a controlled laboratory environment. It has shown promise as a prognostic factor for other chronic respiratory conditions. We sought to evaluate the prognostic value of CPET in predicting outcomes in longitudinal studies of ILD.

MEDLINE, Embase and the Cochrane Database of Systematic Reviews were used to identify studies reporting the prognostic value of CPET in predicting outcomes in longitudinal studies of ILD. Study quality was assessed using the Quality in Prognosis Study risk of bias tool.

Thirteen studies were included that reported the prognostic value of CPET in ILD. All studies reported at least one CPET parameter predicting clinical outcomes in ILD, with survival being the principal outcome assessed. Maximum oxygen consumption, reduced ventilatory efficiency and exercise-induced hypoxaemia were all reported to have prognostic value in ILD. Issues with study design (primarily due to inherent problems of retrospective studies, patient selection and presentation of numerous CPET parameters), insufficient adjustment for important confounders and inadequate statistical analyses limit the strength of the conclusions that can be drawn at this stage.

There is insufficient evidence to confirm the value of CPET in facilitating “real-world” clinical decisions in ILD. Additional prospective studies are required to validate the putative prognostic associations reported in previous studies in carefully phenotyped patient populations.
Physiological signature of late-onset nonallergic asthma of obesity
Authors: Dixon Anne E. , Peters Ubong , Walsh Ryan , Daphtary Nirav , MacLean Erick S. , Hodgdon Kevin , Kaminsky David A. , Bates Jason H.T.
Published: August 2020

Introduction

Obesity can lead to a late-onset nonallergic (LONA) form of asthma for reasons that are not understood. We sought to determine whether this form of asthma is characterised by any unique physiological features.

Methods

Spirometry, body plethysmography, multiple breath nitrogen washout (MBNW) and methacholine challenge were performed in four subject groups: Lean Control (n=11), Lean Asthma (n=11), Obese Control (n=11) and LONA Obese Asthma (n=10). The MBNW data were fitted with a novel computational model that estimates functional residual capacity (FRC), dead space volume (VD), the coefficient of variation of regional specific ventilation (CV,V′E) and a measure of structural asymmetry at the level of the acinus (sacin).

Results

Body mass index and waist circumference values were similar in both obese groups, and significantly greater than in lean asthmatic individuals and controls. Forced vital capacity was significantly lower in the LONA Asthma group compared with the other groups (p<0.001). Both asthma groups exhibited similar hyperresponsiveness to methacholine. FRC was reduced in the Obese LONA Asthma group as measured by MBNW, but not in obese controls, whereas FRC was reduced in both obese groups as measured by plethysmography. VD, CV,V′Eand sacinwere not different between groups.

Conclusions

Chronic lung compression characterises all obese subjects, as reflected by reduced plethysmographic FRC. Obese LONA asthma is characterised by a reduced ability to recruit closed lung units, as seen by reduced MBNW FRC, and an increased tendency for airway closure as seen by a reduced forced vital capacity.
Gender differences in COPD management in a Sicilian general practice setting: a cohort study evaluating the impact of educational interventions
Authors: Isgrò Valentina , Sultana Janet , Fontana Andrea , Ientile Valentina , Alecci Umberto , Scoglio Riccardo , Magliozzo Francesco , Scondotto Salvatore , Caramori Gaetano , Cazzola Mario , Trifirò Gianluca
Published: August 2020

Aim

The aim of this study was to measure gender differences among COPD patients' quality of care (QOC) before and after two educational interventions in Southern Italy.

Methods

In this prospective cohort study, COPD patients were identified from primary care electronic medical records (EMRs). Twelve process indicators concerning diagnosis, preventative measures and therapeutic processes were developed as a measure of QOC. Educational interventions consisted of clinical seminars and audits on COPD QOC at baseline, and at 12 and 24 months. QOC indicators were stratified by gender: odds ratios (ORs) (males as reference group) of having a good QOC indicator were calculated at baseline, 12 and 24 months, with 95% confidence intervals (CIs) using hierarchical generalised linear models.

Results

Of 46 326 people registered in the EMRs, 1463 COPD patients (3.1%) were identified, of which 37% were women. QOC indicators reflecting best practice 24 months after the educational programme were generally not different to baseline, often favouring men. On the other hand, the composite global QOC indicator suggested that while a good overall QOC at baseline was significantly higher in men than women (OR: 0.74; 95% CI: 0.57–0.96), it became nonsignificant at 24 months (OR: 0.96; 95% CI: 0.72–1.29).

Conclusions

Specific QOC indicators among COPD patients often favoured men. However, several gender disparities seen at baseline disappeared at 24 months, suggesting that even general educational interventions which do not target gender can improve the gender disparity in QOC.
Comparison of methods for the detection of outliers and associated biomarkers in mislabeled omics data
Authors: Sun Hongwei , Cui Yuehua , Wang Hui , Liu Haixia , Wang Tong
Published: August 2020

Background

Previous studies have reported that labeling errors are not uncommon in omics data. Potential outliers may severely undermine the correct classification of patients and the identification of reliable biomarkers for a particular disease. Three methods have been proposed to address the problem: sparse label-noise-robust logistic regression (Rlogreg), robust elastic net based on the least trimmed square (enetLTS), and Ensemble. Ensemble is an ensembled classification based on distinct feature selection and modeling strategies. The accuracy of biomarker selection and outlier detection of these methods needs to be evaluated and compared so that the appropriate method can be chosen.

Results

The accuracy of variable selection, outlier identification, and prediction of three methods (Ensemble, enetLTS, Rlogreg) were compared for simulated and an RNA-seq dataset. On simulated datasets, Ensemble had the highest variable selection accuracy, as measured by a comprehensive index, and lowest false discovery rate among the three methods. When the sample size was large and the proportion of outliers was ≤5%, the positive selection rate of Ensemble was similar to that of enetLTS. However, when the proportion of outliers was 10% or 15%, Ensemble missed some variables that affected the response variables.

Overall, enetLTS had the best outlier detection accuracy with false positive rates< 0.05 and high sensitivity, and enetLTS still performed well when the proportion of outliers was relatively large. With 1% or 2% outliers, Ensemble showed high outlier detection accuracy, but with higher proportions of outliers Ensemble missed many mislabeled samples. Rlogreg and Ensemble were less accurate in identifying outliers than enetLTS. The prediction accuracy of enetLTS was better than that of Rlogreg. Running Ensemble on a subset of data after removing the outliers identified by enetLTS improved the variable selection accuracy of Ensemble.

Conclusions

When the proportion of outliers is ≤5%, Ensemble can be used for variable selection. When the proportion of outliers is > 5%, Ensemble can be used for variable selection on a subset after removing outliers identified by enetLTS. For outlier identification, enetLTS is the recommended method. In practice, the proportion of outliers can be estimated according to the inaccuracy of the diagnostic methods used.
Genetic diversity analysis of a flax (Linum usitatissimum L.) global collection
Authors: Hoque Ahasanul , Fiedler Jason D. , Rahman Mukhlesur
Published: August 2020

Background

A sustainable breeding program requires a minimum level of germplasm diversity to provide varied options for the selection of new breeding lines. To maximize genetic gain of the North Dakota State University (NDSU) flax breeding program, we aimed to increase the genetic diversity of its parental stocks by incorporating diverse genotypes. For this purpose, we analyzed the genetic diversity, linkage disequilibrium, and population sub-structure of 350 globally-distributed flax genotypes with 6200 SNP markers.

Results

All the genotypes tested clustered into seven sub-populations (P1 to P7) based on the admixture model and the output of neighbor-joining (NJ) tree analysis and principal coordinate analysis were in line with that of structure analysis. The largest sub-population separation arose from a cluster of NDSU/American genotypes with Turkish and Asian genotypes. All sub-populations showed moderate genetic diversity (averageH = 0.22 andI = 0.34). The pairwiseFstcomparison revealed a great degree of divergence (Fst > 0.25) between most of the combinations. A whole collection mantel test showed significant positive correlation (r = 0.30 andp < 0.01) between genetic and geographic distances, whereas it was non-significant for all sub-populations except P4 and P5 (r = 0.251, 0.349 respectively andp < 0.05). In the entire collection, the mean linkage disequilibrium was 0.03 and it decayed to its half maximum within < 21 kb distance.

Conclusions

To maximize genetic gain, hybridization between NDSU stock (P5) and Asian individuals (P6) are potentially the best option as genetic differentiation between them is highest (Fst > 0.50). In contrast, low genetic differentiation between P5 and P2 may enhance the accumulation of favorable alleles for oil and fiber upon crossing to develop dual purpose varieties. As each sub-population consists of many genotypes, a Neighbor-Joining tree and kinship matrix assist to identify distantly related genotypes. These results also inform genotyping decisions for future association mapping studies to ensure the identification of a sufficient number of molecular markers to tag all linkage blocks.
Genetic architecture and genomic selection of female reproduction traits in rainbow trout
Authors: D’Ambrosio J. , Morvezen R. , Brard-Fudulea S. , Bestin A. , Acin Perez A. , Guéméné D. , Poncet C. , Haffray P. , Dupont-Nivet M. , Phocas F.
Published: August 2020

Background

Rainbow trout is a significant fish farming species under temperate climates. Female reproduction traits play an important role in the economy of breeding companies with the sale of fertilized eggs. The objectives of this study are threefold: to estimate the genetic parameters of female reproduction traits, to determine the genetic architecture of these traits by the identification of quantitative trait loci (QTL), and to assess the expected efficiency of a pedigree-based selection (BLUP) or genomic selection for these traits.

Results

A pedigreed population of 1343 trout were genotyped for 57,000 SNP markers and phenotyped for seven traits at 2 years of age: spawning date, female body weight before and after spawning, the spawn weight and the egg number of the spawn, the egg average weight and average diameter. Genetic parameters were estimated in multi-trait linear animal models. Heritability estimates were moderate, varying from 0.27 to 0.44. The female body weight was not genetically correlated to any of the reproduction traits. Spawn weight showed strong and favourable genetic correlation with the number of eggs in the spawn and individual egg size traits, but the egg number was uncorrelated to the egg size traits. The genome-wide association studies showed that all traits were very polygenic since less than 10% of the genetic variance was explained by the cumulative effects of the QTLs: for any trait, only 2 to 4 QTLs were detected that explained in-between 1 and 3% of the genetic variance. Genomic selection based on a reference population of only one thousand individuals related to candidates would improve the efficiency of BLUP selection from 16 to 37% depending on traits.

Conclusions

Our genetic parameter estimates made unlikely the hypothesis that selection for growth could induce any indirect improvement for female reproduction traits. It is thus important to consider direct selection for spawn weight for improving egg production traits in rainbow trout breeding programs. Due to the low proportion of genetic variance explained by the few QTLs detected for each reproduction traits, marker assisted selection cannot be effective. However genomic selection would allow significant gains of accuracy compared to pedigree-based selection.
Cytosine methylations in the promoter regions of genes involved in the cellular oxidation equilibrium pathways affect rice heat tolerance
Authors: He Chao , Zhang Hong-Yu , Zhang Yong-Xin , Fu Pei , You Li-Li , Xiao Wen-Bo , Wang Zhao-Hai , Song Hai-Yan , Huang Ying-Jin , Liao Jiang-Lin
Published: August 2020

Background

High temperatures, particularly at night, decrease rice yield and quality. As high nighttime temperatures (HNTs) become increasingly frequent due to climate change, it is imperative to develop rice crops that tolerate HNTs. DNA methylation may represent a potential avenue for HNT-tolerant rice strain development, as this mechanism regulates gene activity and cellular phenotype in response to adverse environmental conditions without changing the nucleotide sequence.

Results

After HNT exposure, the methylation patterns of cytosines in the CHH context differed noticeably between two coisogenic rice strains with significantly different levels in heat tolerance. Methylation differences between strains were primarily observed on successive cytosines in the promoter or downstream regions of transcription factors and transposon elements. In contrast to the heat-sensitive rice strain, the regions 358–359 bp and 2–60 bp downstream of two basal transcriptional factors (TFIID subunit 11andmediator of RNA polymerase II transcription subunit 31, respectively) were fully demethylated in the heat-tolerant strain after HNT exposure. In the heat-tolerant strain, HNTs reversed the methylation patterns of successive cytosines in the promoter regions of various genes involved in abscisic acid (ABA)-related reactive oxygen species (ROS) equilibrium pathways, including the pentatricopeptide repeat domain genePPR(LOC_Os07g28900) and the homeobox domain genehomeobox(LOC_Os01g19694). Indeed,PRRexpression was inhibited in heat-sensitive rice strains, and the methylation rates of the cytosines in the promoter region ofPRRwere greater in heat-sensitive strains as compared to heat-tolerant strains.

Conclusions

After HNT exposure, cytosines in the CHH context were more likely than cytosines in other contexts to be methylated differently between the heat-sensitive and heat-tolerant rice strains. Methylation in the promoter regions of the genes associated with ABA-related oxidation and ROS scavenging improved heat tolerance in rice. Our results help to clarify the molecular mechanisms underlying rice heat tolerance.
Implications of AB0 blood group in hypertensive patients with covid-19
Authors: Sardu Celestino , Marfella Raffaele , Maggi Paolo , Messina Vincenzo , Cirillo Paolo , Codella Vinicio , Gambardella Jessica , Sardu Antonio , Gatta Gianluca , Santulli Gaetano , Paolisso Giuseppe
Published: August 2020

Background

Hypertension is the most frequent co-morbidity in patients with covid-19 infection, and we might speculate that a specific blood group could play a key role in the clinical outcome of hypertensive patients with covid-19.

Methods

In this prospective study, we compared 0 vs. non-0 blood group in hypertensive patients with covid-19 infection. In these patients, we evaluated inflammatory and thrombotic status, cardiac injury, and death events.

Results

Patients in non-0 (n = 92) vs. 0 blood group (n = 72) had significantly different values of activated pro-thrombin time, D-dimer, and thrombotic indexes as Von Willebrand factor and Factor VIII (p < 0.05). Furthermore, patients in non-0 vs. 0 blood group had higher rate of cardiac injury (10 (13.9%) vs. 27 (29.3%)) and death, (6 (8.3%) vs. 18 (19.6%)), (p < 0.05). At the multivariate analysis, Interleukin-6 (1.118, CI 95% 1.067–1.171) and non-0 blood group (2.574, CI 95% 1.207–5.490) were independent predictors of cardiac injury in hypertensive patients with covid-19. D-dimer (1.082, CI 95% 1.027–1.140), Interleukin-6 (1.216, CI 95% 1.082–1.367) and non-0 blood group (3.706, CI 95% 1.223–11.235) were independent predictors of deaths events in hypertensive patients with covid-19.

Conclusions

Taken together, our data indicate that non-0 covid-19 hypertensive patients have significantly higher values of pro-thrombotic indexes, as well as higher rate of cardiac injury and deaths compared to 0 patients. Moreover, AB0 blood type influences worse prognosis in hypertensive patients with covid-19 infection.
BK virus-associated nephropathy in a lung transplant patient: case report and literature review
Authors: Crowhurst Thomas , Nolan James , Faull Randall , Holmes Mark , Holmes-Liew Chien-Li
Published: August 2020

Background

BK virus-associated nephropathy (BKVAN) is a relatively common cause of renal dysfunction in the first six months after renal transplantation. It arises from reactivation of the latent and usually harmless BK virus (BK virus) due to immunosuppression and other factors including some that are unique to renal transplantation such as allograft injury. BKVAN is much rarer in non-renal solid organ transplantation, where data regarding diagnosis and management are extremely limited.

Case presentation

We report a case of a 58-year-old man found to have worsening renal dysfunction nine months after bilateral sequential lung transplantation for chronic obstructive pulmonary disease (COPD). He had required methylprednisolone for acute allograft rejection but achieved good graft function. Urine microscopy and culture and renal ultrasound were normal. BK virus PCR was positive at high levels in urine and blood. Renal biopsy subsequently confirmed BKVAN. The patient progressed to end-stage renal failure requiring haemodialysis despite reduction in immunosuppression, including switching mycophenolate for everolimus, and the administration of intravenous immunoglobulin (IVIG).

Conclusions

This very rare case highlights the challenges presented by BK virus in the non-renal solid organ transplant population. Diagnosis can be difficult, especially given the heterogeneity with which BKV disease has been reported to present in such patients, and the optimal approach to management is unknown. Balancing reduction in immunosuppression against prevention of allograft rejection is delicate. Improved therapeutic options are clearly required.
Nasal carriage of Staphylococcus aureus in farm animals and breeders in north of Morocco
Authors: Mourabit Nadira , Arakrak Abdelhay , Bakkali Mohammed , Zian Zeineb , Bakkach Joaira , Laglaoui Amin
Published: August 2020

Background

The objectives of this study were to determine for the first time, in Morocco, the nasal carriage rate, antimicrobial susceptibility profiles and virulence genes of Staphylococcus. aureus isolated from animals and breeders in close contact.

Methods

From 2015 to 2016, 421 nasal swab samples were collected from 26 different livestock areas in Tangier. Antimicrobial susceptibility phenotypes were determined by disk diffusion according to EUCAST 2015. The presence of nuc, mecA, mecC, lukS/F-PV, and tst genes were determined by Polymerase Chain Reaction (PCR) for all isolates.

Results

The overall S. aureus nasal carriage rate was low in animals (9.97%) and high in breeders (60%) with a statistically significant difference, (OR = 13.536; 95% CI = 7.070–25.912; p < 0.001). In general, S. aureus strains were susceptible to the majority of antibiotics and the highest resistance rates were found against tetracycline (16.7% in animals and 10% in breeders). No Methicillin-Resistant S. aureus (MRSA) was detected in animals and breeders. A high rate of tst and lukS/F-PV genes has been recovered only from animals (11.9 and 16.7%, respectively).

Conclusion

Despite the lower rate of nasal carriage of S. aureus and the absence of MRSA strains in our study, S. aureus strains harbored a higher frequency of tst and lukS/F-PV virulence genes, which is associated to an increased risk of infection dissemination in humans. This highlights the need for further larger and multi-center studies to better define the transmission of the pathogenic S. aureus between livestock, environment, and humans.
Radiation exposure of a mobile 3D C-arm with large flat-panel detector for intraoperative imaging and navigation - an experimental study using an anthropomorphic Alderson phantom
Authors: Naseri Yashar , Hubbe Ulrich , Scholz Christoph , Brönner Johannes , Krüger Marie T. , Klingler Jan-Helge
Published: August 2020

Background

Intraoperative 3-dimensional (3D) navigation is increasingly being used for pedicle screw placement. For this purpose, dedicated mobile 3D C-arms are capable of providing intraoperative fluoroscopy-based 3D image data sets. Modern 3D C-arms have a large field of view, which suggests a higher radiation exposure. In this experimental study we therefore investigate the radiation exposure of a new mobile 3D C-arm with large flat-panel detector to a previously reported device with regular flat-panel detector on an Alderson phantom.

Methods

We measured the radiation exposure of the Vision RFD 3D (large 30 × 30 cm detector) while creating 3D image sets as well as standard fluoroscopic images of the cervical and lumbar spine using an Alderson phantom. The dosemeter readings were then compared with the radiation exposure of the previous model Vision FD Vario 3D (smaller 20 × 20 cm detector), which had been examined identically in advance and published elsewhere.

Results

The larger 3D C-arm induced lower radiation exposures at all dosemeter sites in cervical 3D scans as well as at the sites of eye lenses and thyroid gland in lumbar 3D scans. At ​​male and especially female gonads in lumbar 3D scans, however, the larger 3D C-arm showed higher radiation exposures compared with the smaller 3D C-arm. In lumbar fluoroscopic images, the dosemeters near/in the radiation field measured a higher radiation exposure using the larger 3D C-arm.

Conclusions

The larger 3D C-arm offers the possibility to reduce radiation exposures for specific applications despite its larger flat-panel detector with a larger field of view. However, due to the considerably higher radiation exposure of the larger 3D C-arm during lumbar 3D scans, the smaller 3D C-arm is to be recommended for short-distance instrumentations (mono- and bilevel) from a radiation protection point of view. The larger 3D C-arm with its enlarged 3D image set might be used for long instrumentations of the lumbar spine. From a radiation protection perspective, the use of the respective 3D C-arm should be based on the presented data and the respective application.
Prevalence of chronic kidney disease and its associated factors in Malaysia; findings from a nationwide population-based cross-sectional study
Authors: Saminathan Thamil Arasu , Hooi Lai Seong , Mohd Yusoff Muhammad Fadhli , Ong Loke Meng , Bavanandan Sunita , Rodzlan Hasani Wan Shakira , Tan Esther Zhao Zhi , Wong Irene , Rifin Halizah Mat , Robert Tania Gayle , Ismail Hasimah , Wong Norazizah Ibrahim , Ahmad Ghazali , Ambak Rashidah , Othman Fatimah , Abd Hamid Hamizatul Akmal , Aris Tahir
Published: August 2020

Background

The prevalence of chronic kidney disease (CKD) in Malaysia was 9.07% in 2011. We aim to determine the current CKD prevalence in Malaysia and its associated risk factors.

Methods

A population-based study was conducted on a total of 890 respondents who were representative of the adult population in Malaysia, i.e., aged ≥18 years old. Respondents were randomly selected using a stratified cluster method. The estimated glomerular filtration rate (eGFR) was estimated from calibrated serum creatinine using the CKD-EPI equation. CKD was defined as eGFR < 60 ml/min/1.73m2 or the presence of persistent albuminuria if eGFR ≥60 ml/min/1.73m2.

Results

Our study shows that the prevalence of CKD in Malaysia was 15.48% (95% CI: 12.30, 19.31) in 2018, an increase compared to the year 2011 when the prevalence of CKD was 9.07%. An estimated 3.85% had stage 1 CKD, 4.82% had stage 2 CKD, and 6.48% had stage 3 CKD, while 0.33% had stage 4–5 CKD. Hypertension (aOR 3.72), diabetes mellitus (aOR 3.32), increasing BMI (aOR 1.06), and increasing age (aOR 1.06) were significantly associated with CKD.

Conclusion

Our study has shown that CKD has become one of the leading public health issues in Malaysia. Thus, there is an urgent need to screen for CKD and prevent its progression, associated morbidity, and mortality at the national level.
Clinical and genetic characteristics of autosomal recessive polycystic kidney disease in Oman
Authors: Al Alawi Intisar , Molinari Elisa , Al Salmi Issa , Al Rahbi Fatma , Al Mawali Adhra , Sayer John A.
Published: August 2020

Background

There is a high prevalence of rare genetic disorders in the Middle East, and their study provides unique clinical and genetic insights. Autosomal recessive polycystic kidney disease (ARPKD) is one of the leading causes of kidney and liver-associated morbidity and mortality in Oman. We describe the clinical and genetic profile of cohort of ARPKD patients.

Methods

We studied patients with a clinical diagnosis of ARPKD (n = 40) and their relatives (parents (n = 24) and unaffected siblings (n = 10)) from 32 apparently unrelated families, who were referred to the National Genetic Centre in Oman between January 2015 and December 2018. Genetic analysis of PKHD1 if not previously known was performed using targeted exon PCR of known disease alleles and Sanger sequencing.

Results

A clinical diagnosis of ARPKD was made prenatally in 8 patients, 21 were diagnosed during infancy (0–1 year), 9 during early childhood (2–8 years) and 2 at later ages (9–13 years). Clinical phenotypes included polycystic kidneys, hypertension, hepatic fibrosis and splenomegaly. Twenty-four patients had documented chronic kidney disease (median age 3 years). Twenty-four out of the 32 families had a family history suggesting an autosomal recessive pattern of inherited kidney disease, and there was known consanguinity in 21 families (66%). A molecular genetic diagnosis with biallelic PKHD1 mutations was known in 18 patients and newly identified in 20 other patients, totalling 38 patients from 30 different families. Two unrelated patients remained genetically unsolved. The different PKHD1 missense pathogenic variants were: c.107C > T, p.(Thr36Met); c.406A > G, p.(Thr136Ala); c.4870C > T, p.(Arg1624Trp) and c.9370C > T, p.(His3124Tyr) located in exons 3, 6, 32 and 58, respectively. The c.406A > G, p.(Thr136Ala) missense mutation was detected homozygously in one family and heterozygously with a c.107C > T, p.(Thr36Met) allele in 5 other families. Overall, the most commonly detected pathogenic allele was c.107C > T; (Thr36Met), which was seen in 24 families.

Conclusions

Molecular genetic screening of PKHD1 in clinically suspected ARPKD cases produced a high diagnostic rate. The limited number of PKHD1 missense variants identified in ARPKD cases suggests these may be common founder alleles in the Omani population. Cost effective targeted PCR analysis of these specific alleles can be a useful diagnostic tool for future cases of suspected ARPKD in Oman.
Rural-urban differences in the mental health of perinatal women: a UK-based cross-sectional study
Authors: Ginja Samuel , Jackson Katherine , Newham James J. , Henderson Emily J. , Smart Debbie , Lingam Raghu
Published: August 2020

Background

International data suggest that living in a rural area is associated with an increased risk of perinatal mental illness. This study tested the association between rurality and risk for two mental illnesses prevalent in perinatal women - depression and anxiety.

Methods

Using a cross-sectional design, antenatal and postnatal women were approached by healthcare professionals and through other networks in a county in Northern England (UK). After providing informed consent, women completed a questionnaire where they indicated their postcode (used to determine rural-urban status) and completed three outcome measures: the Edinburgh Postnatal Depression Scale (EPDS), the Whooley questions (depression measure), and the Generalised Anxiety Disorder 2-item (GAD-2). Logistic regression models were developed, both unadjusted and adjusted for potential confounders, including socioeconomic status, social support and perinatal stage.

Results

Two hundred ninety-five participants provided valid data. Women in rural areas (n = 130) were mostly comparable to their urban counterparts (n = 165). Risk for depression and/or anxiety was found to be higher in the rural group across all models: unadjusted OR 1.67 (0.42) 95% CI 1.03 to 2.72,p = .038. This difference though indicative did not reach statistical significance after adjusting for socioeconomic status and perinatal stage (OR 1.57 (0.40), 95% CI 0.95 to 2.58,p = .078), and for social support (OR 1.65 (0.46), 95% CI 0.96 to 2.84,p = .070).

Conclusions

Data suggested that women in rural areas were at higher risk of depression and anxiety than their urban counterparts. Further work should be undertaken to corroborate these findings and investigate the underlying factors. This will help inform future interventions and the allocation of perinatal services to where they are most needed.
Validation of the Italian version of the Revised Prenatal Coping Inventory (NuPCI) and its correlations with pregnancy-specific stress
Authors: Penengo Chiara , Colli Chiara , Garzitto Marco , Driul Lorenza , Cesco Maddalena , Balestrieri Matteo
Published: August 2020

Background

Pregnancy is a period of happiness but also of physical and psychological changes that can lead to distress. Functional coping strategies can reduce the pregnancy specific-stress. This study aimed to assess the psychometric properties of the Revised Prenatal Coping Inventory (NuPCI) in an Italian sample and to investigate how coping strategies were associated with pregnancy-specific stress.

Methods

In this cross-sectional study, low-risk pregnant women (N = 211) were assessed with NuPCI, NuPDQ (Revised-Prenatal Distress Questionnaire), Brief-COPE (Coping Orientation to the Problems Experienced), and STAI (State-Trait Anxiety Inventory). The reliability of NuPCI was evaluated by assessing its internal consistency and factor structure (with a Confirmatory Factor Analysis, CFA). The concurrent validity between NuPCI and Brief-COPE and NuPDQ and STAI was investigated. Lastly, the relationship between NuPCI and NuPDQ was analyzed, as well as the ability of these scales to predict Apgar score at birth.

Results

Internal consistency of NuPCI scales was good for Planning-Preparation (ɑC=0.84) and Spiritual-Positive Coping (ɑC=0.81) scales, acceptable for Avoidance (ɑC=0.76) scale. Moreover, the original three-factor structure was confirmed using a CFA with 29 of the 32 items (χ2374 = 618.06; RMSEA = 0.056, 95% confidence interval: [0.048, 0.063]); CFI = 0.920; and TLI = 0.913). Statistically significant correlations between NuPCI scales and Brief-COPE subscales ranged betweenr = + 0.217 andr = + 0.624; also, NuPDQ score was positively correlated with STAI scales (State scale:r = + 0.539; Trait scale:r = + 0.462). Concurrent validity was confirmed reporting that NuPDQ score was predicted by NuPCI scores (R2 = 0.423,p < 0.001), positively by Avoidance (β=+0.572) and Planning-Preparation (β=+0.215) and negatively by Spiritual-Positive Coping (β=-0.132). Finally, considering the stress, the effect of the Avoidance and Spiritual-Positive Coping scores respectively in decreasing (+ 155%) and increasing (+ 16%) the Apgar score became stronger.

Conclusions

Italian NuPCI has sound psychometric properties and it is a useful coping measure. NuPDQ showed also a good validity. Our results may suggest a significant role for coping strategies, particularly in modulating the condition of the newborn at birth.
Influence of genetic polymorphisms in homocysteine and lipid metabolism systems on antidepressant drug response
Authors: Yuan Baoyu , Sun Xiaoyan , Xu Zhi , Pu Mengjia , Yuan Yonggui , Zhang Zhijun
Published: August 2020

Background

Variation in genes implicated in homocysteine and lipid metabolism systems may influence antidepressant response for patients with major depressive disorder (MDD). This study aimed to investigate whether association of polymorphisms on theMTHFR,ApoEandApoA4genes with the treatment response in MDD subjects.

Methods

A total of 281 Han Chinese MDD patients received a single antidepressant drug (SSRI or SNRI) for at least 6 weeks, among whom 275 were followed up for 8 weeks. Their response to 6 weeks’ treatment and remission to 8 weeks’ treatment with antidepressant drugs was determined by changes in the 17-item Hamilton Depression Rating Scale (HARS-17) score. Single SNP and haplotype associations with treatment response were analyzed by UNPHASED 3.0.13. Logistic regression analysis was used to explore the interactions between genotypes and gender or drug type on treatment outcome, only those SNPs that had interactional association with gender or drug type were subjected to further stratified analysis.

Results

In total group, the haplotype (C-A) inMTHFR(rsl801133 and rs1801131) and theApoErs405509 AA genotype were significantly associated with better efficacy of antidepressants; In gender subgroups, only haplotype (C-A) inMTHFR(rsl801133 and rs1801131) was significantly associated with better efficacy of antidepressants in male subgroup; In drug type subgroup, the haplotype (C-A) inMTHFR(rsl801133 and rs1801131) and haplotype (G-C) inApoE(rs7412 and rs405509) were associated with better efficacy of antidepressants in SNRI treated subgroup; TheApoA4rs5092 G allele and GG genotype were associated with worse efficacy of antidepressants in SNRI treated subgroup.

Conclusions

Genetic polymorphisms in homocysteine and lipid metabolism systems are associated with antidepressant response, particularly for the interactions of the certain genetic with gender or drug type.
The needs and service preferences of caregivers of youth with mental health and/or addictions concerns
Authors: Markoulakis Roula , Chan Samantha , Levitt Anthony
Published: August 2020

Background

Caregivers experience significant strains as a result of navigating the complex mental health and/or addiction (MHA) system for their youth with MHA issues. We examined the characteristics of Ontario families with youth with MHA issues and their service needs.

Methods

A cross-sectional survey study investigated the characteristics and service needs of families with youth with MHA issues across the province of Ontario, Canada. A total of 840 caregivers were recruited.

Results

259 participants (Mage = 45.94, SD = 7.11) identified as caregiving for at least one youth with MHA issues. The majority of the participants were female (70.7%), married (73.4%), and completed at least some college/Bachelor degree (59.1%). The mean age of youth was 16.72 years (SD = 5.33) and the most frequently reported diagnoses were Depression (30.1%), ADHD (27.8%) and Generalized Anxiety Disorder (21.2%). Regression results demonstrated that presently accessing services, presently seeking services, and higher levels of barriers MHA services were significantly predictive of identifying navigation as helpful for finding appropriate MHA services (χ2(7) = 28.69,p < .001, Nagelkerke R2 = .16). Furthermore, presently accessing services was significantly predictive of identifying case management as helpful (χ2(7) = 29.59,p < .001, Nagelkerke R2 = .156), and of identifying a primary healthcare provider as helpful (χ2(7) = 38.75, p < .001, Nagelkerke R2 = .197) for finding appropriate MHA services.

Conclusion

Identifying the nature and extent of youth MHA issues, service needs, and family preferences can inform the development of services that address families’ needs and lend vital support for accessing services within a complex system.
Rationale and design of the PaTIO study: PhysiotherApeutic Treat-to-target Intervention after Orthopaedic surgery
Authors: Groot Lichelle , Gademan Maaike G.J. , Peter Wilfred F. , van den Hout Wilbert B. , Verburg Hennie , Vliet Vlieland Thea P.M. , Reijman Max ,   on behalf of the PaTIO study group, Baas D. C. , Bazuin R. , Boerma-Argelo K. , Boonen B. , Bos P. K. , Breedveld E. A. , de Bruijn M. , Dijkstra B. , Elings J. , de Gast A. , Gosens T. , Hofstee D. J. , Janssen R. P. A. , Jutten-Brouwer L. , van Kampen P. M. , Kaptijn H. , Koëter S. , de Hei C. A. L. C. Kremers-van , Liu W. Y. , Lenssen A. F. , Nieboer M. F. , Nieuwenhuys-Kroon L. , Nolte P. A. , Noorduyn J. C. A. , Oosting E. , Pasma J. H. , Poolman R. W. , Schager M. , Schotanus M. G. M. , Sonnega R. J. A. , Stevens M. , Verdegaal S. H. M. , Zijlstra W. P.
Published: August 2020

Background

Physiotherapy is a proven effective treatment strategy after total knee and hip arthroplasty (TKA/THA), however there is considerable practice variation regarding its timing, content and duration. This study aims to compare the (cost-) effectiveness of a standardized, treat-to-target postoperative physiotherapy strategy with usual postoperative care.

Methods

Using a cluster randomized study design, consecutive patients scheduled for a primary TKA/THA in 18 hospitals in the Netherlands will be assigned to the treat-to-target physio therapy strategy or usual postoperative care. With the treat-to-target strategy a standardized, individually tailored, exercise program is aimed at the attainment of specific functional milestones. Assessments are done at baseline, 6 weeks and 3, 6, 9 and 12 months follow up. The primary outcome will be the Knee injury / Hip disability and Osteoarthritis Outcome Score - Physical Function Short Form (KOOS-PS / HOOS-PS) at 3 months follow up. Secondary outcomes are the numeric rating scale for pain, the Oxford Knee and Hip Scores, performance-based test and the EuroQol 5D-5L for quality of life. Healthcare use, productivity and satisfaction with postoperative care are measured by means of questionnaires. In total, 624 patients will be needed of which 312 TKA and 312 THA patients.

Discussion

The study will provide evidence concerning the (cost-) effectiveness of the treat-to-target postoperative physiotherapy treatment compared to usual postoperative care. The results of this study will address an important evidence gap and will have a significant impact in daily practice of the physio therapist.

Trial registration

Registered in the Dutch Trial Registry on April 15, 2018. Registration number: NTR7129.
Developing and validating a questionnaire for mortality follow-back studies on end-of-life care and decision-making in a resource-poor Caribbean country
Authors: Jennings Nicholas , Chambaere Kenneth , Cox Macpherson Cheryl , Cox Karen L. , Deliens Luc , Cohen Joachim
Published: August 2020

Background

Palliative and end-of-life care development is hindered by a lack of information about the circumstances surrounding dying in developing and resource-poor countries. Our aims were to develop and obtain face and content validity for a self-administered questionnaire on end-of-life care provision and medical decision-making for use in population-based surveys.

Methods

Modelled on validated questionnaires from research in developed countries, our questionnaire was adapted to the cultural sensitivity and medico-legal context of Trinidad and Tobago. Two sets of semi-structured face-to-face cognitive interviews were done with a sample of physicians, sampling was purposive. Phase 1 assessed interpretation of the questions, terminology and content of the questionnaire. Phase 2 was tested on a heterogeneous group of physicians to identify and fix problematic questions or recurring issues. Adjustments were made incrementally and re-tested in successive interviews.

Results

Eighteen physicians were interviewed nationwide. Adaptations to questionnaires used in developed countries included: addition of a definition of palliative care, change of sensitive words like expedited to influenced, adjustments to question formulations, follow-up questions and answer options on medications used were added, the sequence, title and layout were changed and instructions for completion were included at the beginning of the questionnaire.

Conclusion

A new instrument for assessing and documenting end-of-life care and circumstances of dying in a small, resource-poor Caribbean country was developed and validated, and can be readily used as a mortality follow-back instrument. Our methods and procedures of development can be applied as a guide for similar studies in other small developing countries.
Changes in six domains of cognitive function with reproductive and chronological ageing and sex hormones: a longitudinal study in 2411 UK mid-life women
Authors: Kilpi Fanny , Soares Ana Luiza G. , Fraser Abigail , Nelson Scott M. , Sattar Naveed , Fallon Sean James , Tilling Kate , Lawlor Deborah A.
Published: August 2020

Background

There may be changes in cognitive function in women going through the menopause. The current evidence remains unclear, however, whether these changes occur over and above those of general ageing. We aimed to evaluate the potential impact of the menopause (assessed by reproductive age and hormone levels) on cognitive function in women in mid-life accounting for the underlying effects of ageing.

Methods

The study was based on the follow up of women originally enrolled in pregnancy in a birth cohort when resident in the South West of England, UK between 1991 and 1992. Using up to three repeated measurements in 2411 women (mean age 51 at first assessment), we modelled changes in six cognitive function domains: immediate and delayed verbal episodic memory, working memory, processing speed, verbal intelligence and verbal fluency. The exposures of interest were reproductive age measured as years relative to the final menstrual period (FMP), chronological age and reproductive hormones (follicle-stimulating hormone (FSH), luteinizing hormone (LH) and anti-Müllerian hormone (AMH)).

Results

Processing speed (− 0.21 (95% CI − 0.36 to − 0.06) standard deviation (SD) difference per 10 years since FMP), immediate verbal episodic memory (− 0.15 (95% CI − 0.35 to 0.06)) and delayed verbal episodic memory (− 0.17 (95% CI − 0.37 to 0.03)) declined with reproductive age. Reproductive hormones were not robustly associated with processing speed, but FSH and LH were both negatively associated with immediate (− 0.08 (95% CI − 0.13 to − 0.02) SD difference per SD difference in hormone level) and delayed verbal episodic memory (− 0.08 (95% CI − 0.13 to − 0.03)). There was little consistent evidence of cognitive function declining with menopause in other cognitive domains.

Conclusions

Of the cognitive domains tested only verbal episodic memory declined both in relation to age since the menopause and in conjunction with the reproductive hormones that reflect the menopause. This decline was independent of normal ageing and suggests that the menopause is associated with a mild impact on this specific domain of cognitive function.
Endometriosis of the vesico-vaginal septum: a rare and unusual localization (case report)
Authors: Ait Benkaddour Yassir , El Farji Affaf , Soummani Abderraouf
Published: August 2020

Background

We report a rare and unusual case of endometriosis in the vesico-vaginal septum. The location of this disease at this site is so uncommon that the literature about is very rare.

Case presentation

A 41-year-old female was presented with urinary symptoms. There was history of caesarean section. Physical examination revealed an anterior vaginal wall mass. Pelvic MRI showed an inter vesico-vaginal mass, suggesting a leiomyoma. Surgical excision was performed by the vaginal route. There were no postoperative complications. Histopathology examination showed focal endometriosis.

Conclusion

Endometriosis of the anterior compartment remains relatively rare; its localization to the vesico-vaginal septum (VVS) is very rare. With the occurrence of nonspecific cyclic urinary signs in women during periods of genital activity, endometriosis should be mentioned, especially in the presence of an antecedent of pelvic surgery.