bluuebunny/crossref_metadata_2025 huggingface dataset:
Drugs activating hypoxia-inducible factors correct erythropoiesis and hepcidin levels via renal EPO induction in mice
Authors: Nakai Taku , Iwamura Yuma , Kato Koichiro , Hirano Ikuo , Matsumoto Yotaro , Tomioka Yoshihisa , Yamamoto Masayuki , Suzuki Norio
Published: May 2023

The erythroid growth factor erythropoietin (EPO) is mainly produced by the kidneys in adult mammals and induces expansion of erythroid cells and iron use for hemoglobin synthesis. The liver also produces EPO at a lower level than the kidneys. Renal and hepatic EPO production is fundamentally regulated by hypoxia-inducible transcription factors (HIFs) in a hypoxia/anemia-inducible manner. Recently, small compounds that activate HIFs and EPO production in the kidneys by inhibiting HIF-prolyl hydroxylases (HIF-PHIs) have been launched to treat EPO-deficiency anemia in patients with kidney disease. However, the roles of the liver in the HIF-PHI–mediated induction of erythropoiesis and iron mobilization remain controversial. Here, to elucidate the liver contributions to the therapeutic effects of HIF-PHIs, genetically modified mouse lines lacking renal EPO-production ability were analyzed. In the mutant mice, HIF-PHI administration marginally increased plasma EPO concentrations and peripheral erythrocytes by inducing hepatic EPO production. The effects of HIF-PHIs on the mobilization of stored iron and on the suppression of hepatic hepcidin, an inhibitory molecule for iron release from iron-storage cells, were not observed in the mutant mice. These findings demonstrate that adequate induction of EPO mainly in the kidney is essential for achieving the full therapeutic effects of HIF-PHIs, which include hepcidin suppression. The data also show that HIF-PHIs directly induce the expression of duodenal genes related to dietary iron intake. Furthermore, hepatic EPO induction is considered to partially contribute to the erythropoietic effects of HIF-PHIs but to be insufficient to compensate for the abundant EPO induction by the kidneys.
An Adaptive Hand Exoskeleton for Teleoperation System
Authors: Wei Wei , Zhou Bangda , Fan Bingfei , Du Mingyu , Bao Guanjun , Cai Shibo
Published: May 2023

Teleoperation can assist people to complete various complex tasks in inaccessible or high-risk environments, in which a wearable hand exoskeleton is one of the key devices. Adequate adaptability would be available to enable the master hand exoskeleton to capture the motion of human fingers and reproduce the contact force between the slave hand and its object. This paper presents a novel finger exoskeleton based on the cascading four-link closed-loop kinematic chain. Each finger has an independent closed-loop kinematic chain, and the angle sensors are used to obtain the finger motion including the flexion/extension and the adduction/abduction. The cable tension is changed by the servo motor to transmit the contact force to the fingers in real time. Based on the finger exoskeleton, an adaptive hand exoskeleton is consequently developed. In addition, the hand exoskeleton is tested in a master–slave system. The experiment results show that the adaptive hand exoskeleton can be worn without any mechanical constraints, and the slave hand can follow the motions of each human finger. The accuracy and the real-time capability of the force reproduction are validated. The proposed adaptive hand exoskeleton can be employed as the master hand to remotely control the humanoid five-fingered dexterous slave hand, thus, enabling the teleoperation system to complete complex dexterous manipulation tasks.
Correction: Transcriptome analysis and identification of chemosensory genes in the larvae of Plagiodera versicolora
Authors: Wu Zhe-Ran , Fan Jian-Ting , Tong Na , Guo Jin-Meng , Li Yang , Lu Min , Liu Xiao-Long
Published: May 2023

An amendment to this paper has been published and can be accessed via the original article.
Gene expression of male pathway genes sox9 and amh during early sex differentiation in a reptile departs from the classical amniote model
Authors: Wagner Susan , Whiteley Sarah L. , Castelli Meghan , Patel Hardip R. , Deveson Ira W. , Blackburn James , Holleley Clare E. , Marshall Graves Jennifer A. , Georges Arthur
Published: May 2023

Background

Sex determination is the process whereby the bipotential embryonic gonads become committed to differentiate into testes or ovaries. In genetic sex determination (GSD), the sex determining trigger is encoded by a gene on the sex chromosomes, which activates a network of downstream genes; in mammals these include SOX9, AMH and DMRT1 in the male pathway, and FOXL2 in the female pathway. Although mammalian and avian GSD systems have been well studied, few data are available for reptilian GSD systems.

Results

We conducted an unbiased transcriptome-wide analysis of gonad development throughout differentiation in central bearded dragon (Pogona vitticeps) embryos with GSD. We found that sex differentiation of transcriptomic profiles occurs at a very early stage, before the gonad consolidates as a body distinct from the gonad-kidney complex. The male pathway genes dmrt1 and amh and the female pathway gene foxl2 play a key role in early sex differentiation in P. vitticeps, but the central player of the mammalian male trajectory, sox9, is not differentially expressed in P. vitticeps at the bipotential stage. The most striking difference from GSD systems of other amniotes is the high expression of the male pathway genes amh and sox9 in female gonads during development. We propose that a default male trajectory progresses if not repressed by a W-linked dominant gene that tips the balance of gene expression towards the female trajectory.

Further, weighted gene expression correlation network analysis revealed novel candidates for male and female sex differentiation.

Conclusion

Our data reveal that interpretation of putative mechanisms of GSD in reptiles cannot solely depend on lessons drawn from mammals.
Investigating the genetic components of tuber bruising in a breeding population of tetraploid potatoes
Authors: Angelin-Bonnet Olivia , Thomson Susan , Vignes Matthieu , Biggs Patrick J. , Monaghan Katrina , Bloomer Rebecca , Wright Kathryn , Baldwin Samantha
Published: May 2023

Background

Tuber bruising in tetraploid potatoes (Solanum tuberosum) is a trait of economic importance, as it affects tubers’ fitness for sale. Understanding the genetic components affecting tuber bruising is a key step in developing potato lines with increased resistance to bruising. As the tetraploid setting renders genetic analyses more complex, there is still much to learn about this complex phenotype. Here, we used capture sequencing data on a panel of half-sibling populations from a breeding programme to perform a genome-wide association analysis (GWAS) for tuber bruising. In addition, we collected transcriptomic data to enrich the GWAS results. However, there is currently no satisfactory method to represent both GWAS and transcriptomics analysis results in a single visualisation and to compare them with existing knowledge about the biological system under study.

Results

When investigating population structure, we found that the STRUCTURE algorithm yielded greater insights than discriminant analysis of principal components (DAPC). Importantly, we found that markers with the highest (though non-significant) association scores were consistent with previous findings on tuber bruising. In addition, new genomic regions were found to be associated with tuber bruising. The GWAS results were backed by the transcriptomics differential expression analysis. The differential expression notably highlighted for the first time the role of two genes involved in cellular strength and mechanical force sensing in tuber resistance to bruising. We proposed a new visualisation, the HIDECAN plot, to integrate the results from the genomics and transcriptomics analyses, along with previous knowledge about genomic regions and candidate genes associated with the trait.

Conclusion

This study offers a unique genome-wide exploration of the genetic components of tuber bruising. The role of genetic components affecting cellular strength and resistance to physical force, as well as mechanosensing mechanisms, was highlighted for the first time in the context of tuber bruising. We showcase the usefulness of genomic data from breeding programmes in identifying genomic regions whose association with the trait of interest merit further investigation. We demonstrate how confidence in these discoveries and their biological relevance can be increased by integrating results from transcriptomics analyses. The newly proposed visualisation provides a clear framework to summarise of both genomics and transcriptomics analyses, and places them in the context of previous knowledge on the trait of interest.
First case report of splenomegaly with splenic infarction due to aortic graft infection
Authors: Kim Yuntae , Ishikawa Kazuhiro , Kawai Fujimi , Mori Nobuyoshi
Published: May 2023

Background

Diagnosis of aortic graft infections (AGI) is challenging. Here, we report a case of AGI with splenomegaly and splenic infarction.

Case presentation

A 46-year-old man who underwent total arch replacement for Stanford type A acute aortic dissection one year prior presented to our department with fever, night sweat, and a 20-kg weight loss over several months. Contrast-enhanced computed tomography (CT) revealed splenic infarction with splenomegaly, fluid collection, and thrombus around the stent graft. Positron emission tomography-CT (PET-CT) revealed abnormal 18F-fluorodeoxyglucose uptake in the stent graft and spleen. Transesophageal echocardiography revealed no vegetations. The patient was diagnosed with an AGI and underwent graft replacement. Blood and tissue cultures in the stent graft yielded Enterococcus faecalis. After the surgery, the patient was successfully treated with antibiotics.

Conclusions

Splenic infarction and splenomegaly are the clinical findings of endocarditis but are rare in graft infection. These findings could be helpful to diagnose graft infections, which is often challenging.
A rapid review of evaluated interventions to inform the development of a resource to support the resilience of care home nurses
Authors: Mallon Anita , Mitchell Gary , Carter Gillian , McLaughlin Derek , Wilson Christine Brown
Published: May 2023

Backgound

Nurses working in care homes face significant challenges that are unique to that context. The importance of effective resilience building interventions as a strategy to enable recovery and growth in these times of uncertainty have been advocated. The aim of this rapid review was to inform the development of a resource to support the resilience of care home nurses. We explored existing empirical evidence as to the efficacy of resilience building interventions. undertaken with nurses.

Methods

We undertook a rapid review using quantitative studies published in peer reviewed journals that reported resilience scores using a valid and reliable scale before and after an intervention aimed at supporting nurse resilience. The databases; Cumulative Index to Nursing and Allied Health Literature, Medline and PsychInfo. and the Cochrane Library were searched. The searches were restricted to studies published between January 2011 and October 2021 in the English language. Only studies that reported using a validated tool to measure resilience before and after the interventions were included.

Results

Fifteen studies were included in this rapid review with over half of the studies taking place in the USA. No studies reported on an intervention to support resilience with care home nurses. The interventions focused primarily on hospital-based nurses in general and specialist contexts. The interventions varied in duration content and mode of delivery, with interventions incorporating mindfulness techniques, cognitive reframing and holistic approaches to building and sustaining resilience. Thirteen of the fifteen studies selected demonstrated an increase in resilience scores as measured by validated and reliable scales. Those studies incorporating ‘on the job,’ easily accessible practices that promote self-awareness and increase sense of control reported significant differences in pre and post intervention resilience scores.

Conclusion

Nurses continue to face significant challenges, their capacity to face these challenges can be nurtured through interventions focused on strengthening individual resources. The content, duration, and mode of delivery of interventions to support resilience should be tailored through co-design processes to ensure they are both meaningful and responsive to differing contexts and populations.
The bidirectional relationship between chronic joint pain and frailty: data from the Investigating Musculoskeletal Health and Wellbeing cohort
Authors: Chaplin Wendy J. , McWilliams Daniel F. , Millar Bonnie S. , Gladman John R. F. , Walsh David A.
Published: May 2023

Background

Pain and frailty are associated, but this relationship is insufficiently understood. We aimed to test whether there is a unidirectional or bidirectional relationship between joint pain and frailty.

Methods

Data were from Investigating Musculoskeletal Health and Wellbeing, a UK-based cohort. Average joint pain severity over the previous month was assessed using an 11-point numerical rating scale (NRS). Frailty was classified as present/absent using the FRAIL questionnaire. Multivariable regression assessed the association between joint pain and frailty, adjusted for age, sex, and BMI class. Two-wave cross-lagged path modelling permitted simultaneous exploration of plausible causal pathways between pain intensity and frailty at baseline and 1-year. Transitions were assessed using t-tests.

Results

One thousand one hundred seventy-nine participants were studied, 53% female, with a median age of 73 (range 60 to 95) years. FRAIL classified 176 (15%) participants as frail at baseline. Mean (SD) baseline pain score was 5.2 (2.5). Pain NRS ≥ 4 was observed in 172 (99%) of frail participants.

Pain severity was associated with frailty at baseline (aOR 1.72 (95%CI 1.56 to 1.92)). In cross-lagged path analysis, higher baseline pain predicted 1-year frailty [β = 0.25, (95%CI 0.14 to 0.36), p < 0.001] and baseline frailty predicted higher 1-year pain [β = 0.06, (95%CI 0.003 to 0.11), p = 0.040]. Participants transitioning to frailty over one year had higher mean pain scores (6.4 (95%CI 5.8 to 7.1)) at baseline than those who remained non-frail (4.7 (95%CI 4.5 to 4.8)), p < 0.001.

Conclusions

The bidirectional relationship between pain and frailty could lead to a vicious cycle in which each accelerates the other’s progression. This justifies attempts to prevent frailty by addressing pain and to include pain measures as an outcome in frailty studies.
Serological testing for syphilis in the differential diagnosis of cognitive decline and polyneuropathy in geriatric patients
Authors: Djukic Marija , Eiffert Helmut , Lange Peter , Giotaki Ioanna , Seele Jana , Nau Roland
Published: May 2023

Background

In the 19th century, neurosyphilis was the most frequent cause of dementia in Western Europe. Now dementia caused by syphilis has become rare in Germany. We studied whether routine testing of patients with cognitive abnormalities or neuropathy for antibodies against Treponema pallidum has therapeutic consequences in geriatric patients.

Methods

A Treponema pallidum electrochemiluminescence immunoassay (TP-ECLIA) is routinely performed in all in-patients treated at our institution with cognitve decline or neuropathy and no or insufficient previous diagnostic workup. Patients with a positive TP-ECLIA treated from October 2015 to January 2022 (76 months) were retrospectively evaluated. In cases of positive TP-ECLIA, further specific laboratory investigations were performed to assess whether antibiotic therapy was indicated.

Results

In 42 of 4116 patients (1.0%), TP-ECLIA detected antibodies directed against Treponema in serum. Specifity of these antibodies was ensured by immunoblot in 22 patients (11 × positiv, 11 × borderline values). Treponema-specific IgM was detectable in the serum of one patient, in 3 patients the Rapid Plasma Reagin (RPR) test, a modified Venereal Disease Research Laboratory test (VDRL), in serum was positiv. CSF analysis was performed in 10 patients. One patient had CSF pleocytosis. In 2 other patients, the Treponema-specific IgG antibody index was elevated. 5 patients received antibiotic therapy (4 × ceftriaxone 2 g/d i.v., 1 × doxycycline 300 mg/d p.o.).

Conclusion

In approx. 1‰ of patients with previously undiagnosed or not sufficiently diagnosed cognitive decline or neuropathy, the diagnostic workup for active syphilis resulted in a course of antibiotic treatment.
Are dietary intake and nutritional status of specific polyunsaturated fatty acids correlated with sarcopenia outcomes in community-dwelling older adults with sarcopenia? – Exploratory results from ENHANce
Authors: Dupont Jolan , Wauters Eva , Dedeyne Lenore , Vercauteren Laura , Amini Nadjia , Lapauw Laurence , Matthys Christophe , Verschueren Sabine , Tournoy Jos , Koppo Katrien , Gielen Evelien
Published: May 2023

Aims

To explore the relationship between dietary polyunsaturated fatty acids (PUFAs) intake, nutritional PUFAs status and sarcopenia outcomes in sarcopenic older adults.

Methods

The Exercise and Nutrition for Healthy AgeiNg (ENHANce) is an ongoing 5-armed triple blinded randomized controlled trial, in sarcopenic older adults (> 65y) aiming to assess the effect of combined anabolic interventions (protein, omega-3 supplement and exercise) on physical performance in these adults, compared to single/placebo interventions. Baseline data were used for a secondary, exploratory, cross-sectional analysis. Dietary PUFAs intake was assessed with 4-day food records, status with RBC membrane fatty acids profiles. Spearman’s rho(ρ) correlation coefficients were calculated to explore associations of PUFAs intake and status with sarcopenia-defining parameters (muscle strength, mass and physical performance), physical activity (step count) and quality of life (SF-36, SarQoL).

Results

In total, 29 subjects (9♂/20♀, mean age 76.3 ± 5.4y) were included. Total omega-3 intake of participants (1.99 ± 0.99 g/d) was below the recommended intake (♂:2.8–5.6 g/d; ♀:2.2–4.4 g/d). Intake and status of PUFAs were not correlated. Regarding correlations with outcomes, α-linolenic acid status was inversely associated with appendicular lean mass (aLM) (ρ:-0.439; p = 0.017), whereas docosahexaenoic acid status was positively associated with aLM (ρ:0.388; p = 0.038). Some omega-3 PUFAs intake and status markers were positively associated with step count, SF-36 and SarQoL scores, whereas gamma-linolenic acid status was inversely associated with SF-36 physical component summary score (ρ = -0.426; p = 0.024).

Conclusions

Although intake of omega-3 and omega-6 was low, the present exploratory study generated new hypotheses for potential correlations of PUFAs intake and status with sarcopenia outcomes in older adults with sarcopenia.
Genetic characterization of dengue virus serotype 1 circulating in Reunion Island, 2019–2021, and the Seychelles, 2015–2016
Authors: Hafsia Sarah , Barbar Tatiana , Wilkinson David A , Atyame Célestine , Biscornet Leon , Bibi Jastin , Louange Meggy , Gedeon Jude , De Santis Olga , Flahault Antoine , Cabie André , Bertolotti Antoine , Mavingui Patrick
Published: May 2023

Background

An unprecedent increase in the number of cases and deaths reported from dengue virus (DENV) infection has occurred in the southwestern Indian ocean in recent years. From 2017 to mid-2021 more than 70,000 confirmed dengue cases were reported in Reunion Island, and 1967 cases were recorded in the Seychelles from 2015 to 2016. Both these outbreaks displayed similar trends, with the initial circulation of DENV-2 which was replaced by DENV-1. Here, we aim to determine the origin of the DENV-1 epidemic strains and to explore their genetic characteristics along the uninterrupted circulation, particularly in Reunion.

Methods

Nucleic acids were extracted from blood samples collected from dengue positive patients; DENV-1 was identified by RT-qPCR. Positive samples were used to infect VERO cells. Genome sequences were obtained from either blood samples or infected-cell supernatants through a combination of both Illumina or MinION technologies.

Results

Phylogenetic analyses of partial or whole genome sequences revealed that all DENV-1 sequences from Reunion formed a monophyletic cluster that belonged to genotype I and were closely related to one isolate from Sri Lanka (OL752439.1, 2020). Sequences from the Seychelles belonged to the same major phylogenetic branch of genotype V, but fell into two paraphyletic clusters, with greatest similarity for one cluster to 2016–2017 isolate from Bangladesh, Singapore and China, and for the other cluster to ancestral isolates from Singapore, dating back to 2012. Compared to publicly available DENV-1 genotype I sequences, fifteen non-synonymous mutations were identified in the Reunion strains, including one in the capsid and the others in nonstructural proteins (NS) (three in NS1, two in NS2B, one in NS3, one in NS4B, and seven in NS5).

Conclusion

In contrast to what was seen in previous outbreaks, recent DENV-1 outbreaks in Reunion and the Seychelles were caused by distinct genotypes, all likely originating from Asia where dengue is (hyper)endemic in many countries. Epidemic DENV-1 strains from Reunion harbored specific non-synonymous mutations whose biological significance needs to be further investigated.
Clinical utility of methicillin-resistant Staphylococcus aureus nasal PCR to streamline antimicrobial use in treatment of diabetic foot infection with or without osteomyelitis
Authors: Harb Gaielle , Hopkins Teri , Yang Linda , Morneau Kathleen , Cadena-Zuluaga Jose , Walter Elizabeth , Frei Christopher
Published: May 2023

Background

Diabetic Foot Infection (DFI) guidelines recommend empiric methicillin-resistant Staphylococcus aureus (MRSA)-targeted therapy in settings where there is high prevalence of MRSA infections or in cases of severe infection; however, they do not provide recommendations for de-escalation. This approach has the potential to increase unnecessary use of broad-spectrum antibiotics; therefore, additional strategies are needed to optimize appropriate antibiotic use. This study evaluates the effect of MRSA nasal PCR testing on MRSA-targeted antibiotic use and clinical outcomes in patients with DFI.

Methods

This was a retrospective quasi-experimental study of patients admitted to South Texas Veterans Health Care System for DFI, with or without osteomyelitis (OM), who had an MRSA nasal PCR and culture data. Eligible patients were identified from the Corporate Data Warehouse and reviewed via electronic health record. Patients were allocated into two groups: PRE (5/1/2019-4/30/2020) and POST (12/1/2020-11/30/2021) protocol implementation for de-escalation or avoidance of MRSA-targeted antibiotics. The primary outcome was median (interquartile range [IQR]) hours of empiric inpatient MRSA-targeted antibiotic therapy. A Wilcoxon Rank Sum test was used to assess the difference between the groups for the primary outcome. Secondary outcomes included the proportion of patients needing MRSA coverage added back for MRSA after de-escalation, hospital readmission, length of hospital stay (LOS), patient mortality, and acute kidney injury.

Results

A total of 151 patients were included (83 PRE; 68 POST). Most patients were male (98% PRE; 97% POST) with a median age of 64 (IQR, 56–72) years. Incidence of MRSA in DFI in the cohort was 14.7% overall (12% PRE and 17.6% POST). MRSA was detected via nasal PCR in 12% of patients 15.7% PRE and 7.4% POST). After protocol implementation, there was a significant decrease in empiric MRSA-targeted antibiotic therapy use, from a median of 72 (IQR, 27–120) hours in the PRE group, to 24 (IQR, 12–72) hours in the POST group (p < 0.01). No significant differences were found for other secondary outcomes.

Conclusion

This study of patients presenting to a Veterans Affairs (VA) hospital with DFI identified a statistically significant decrease in median duration of MRSA-targeted antibiotic use post-protocol implementation. This suggests a favorable effect of MRSA nasal PCR for de-escalation or avoidance of MRSA-targeted antibiotics in DFI.
Prognosis and incidence of infections in chronic kidney disease patients with membranous nephropathy enrolled in a large Japanese clinical claims database
Authors: Matsuzaki Takuro , Watanabe Yu , Tanaka Akihito , Furuhashi Kazuhiro , Saito Shoji , Maruyama Shoichi
Published: May 2023

Background

The treatment of membranous nephropathy involves a combination of conservative approaches, steroids, and immunosuppressive agents. Infection is an adverse effect of these treatments and its incidence is a critical issue for patients with membranous nephropathy, as many of them are older adults. However, the incidence of infections remains unclear; hence, this study investigated this issue using data from a large Japanese clinical claims database.

Methods

From a database of patients with chronic kidney disease (n = 924,238), those diagnosed with membranous nephropathy from April 2008 to August 2021 with a history of one or more prescriptions and undergoing medical care were included. Patients who had undergone kidney replacement therapy were excluded. Patients were divided into three groups based on their prescriptions after diagnosis: prednisolone(PSL), who received steroids; PSL + IS, who were prescribed steroids and immunosuppressive agents; and C, who were treated without steroid or immunosuppressive agent use. The primary outcome was death or the initiation of kidney replacement therapy. The secondary outcome was death or hospitalization due to infection. Infectious diseases such as sepsis, pneumonia, urinary tract infections, cellulitis, cytomegalovirus infection, colitis, or hepatitis were defined as infections. Hazard ratios were expressed using group C as a reference.

Results

Of 1,642 patients, the incidence of the primary outcome occurred in 62/460 individuals in the PSL group, 81/635 individuals in the PSL + IS group, and 47/547 individuals in the C group. The Kaplan–Meier survival curve showed no significant differences (P = 0.088). The incidence of secondary outcomes occurred in 80/460 individuals, 102/635 individuals, and 37/547 individuals in the PSL, PSL + IS, and C groups, respectively. The incidence of secondary outcomes was significantly higher in the PSL group (hazard ratio [HR] 2.43 [95% confidence interval [CI] 1.64–3.62, P < 0.01]) and PSL + IS group (HR 2.23 [95% CI 1.51–3.30, P < 0.01]).

Conclusions

The outcome of membranous nephropathy was not completely satisfactory. Patients who use steroids and immunosuppressive agents have a high incidence of infection and may require close monitoring during the course of treatment.High-efficacy treatment with a low incidence of infections is desirable. The significance of this study lies in the fact that the impressions of membranous nephropathy, which have been recognized as tacit knowledge, were quantified using a clinical database.
A novel variant in the tropomyosin 3 gene presenting as an adult-onset distal myopathy - a case report
Authors: Chen Zhiyong , Saini Monica , Koh Jasmine Shimin , Lim Gareth Zigui , Dang Nancy Jiaojiao , Prasad Kalpana , Koh Swee Hoon , Tay Karine Su Shan , Lee Ming , Ong Helen Lisa , Zhao Yi , Tandon Ankit , Chai Josiah Yui Huei
Published: May 2023

Background

We report a patient with a novel c.737 C > T variant (p.Ser246Leu) of the TPM3 gene presenting with adult-onset distal myopathy.

Case presentation

A 35-year-old Chinese male patient presented
with a history of progressive finger weakness. Physical examination revealed
differential finger extension weakness, together with predominant finger
abduction, elbow flexion, ankle dorsiflexion and toe extension weakness. Muscle
MRI showed disproportionate fatty infiltration of the glutei, sartorius and
extensor digitorum longus muscles without significant wasting. Muscle biopsy and
ultrastructural examination showed a non-specific myopathic pattern without
nemaline or cap inclusions. Genetic sequencing revealed a novel heterozygous
p.Ser246Leu variant (c.737C>T) of the TPM3 gene which is predicted to
be pathogenic. This variant is located in the area of the TPM3 gene
where the protein product interacts with actin at position Asp25 of actin.
Mutations of TPM3 in these loci have been shown to alter the sensitivity
of thin filaments to the influx of calcium ions.

Conclusion

This report further expands the phenotypic
spectrum of myopathies associated with TPM3 mutations, as mutations in TPM3
had not previously been reported with adult-onset distal myopathy. We also discuss the interpretation of variants
of unknown significance in patients with TPM3 mutations and summarise
the typical muscle MRI findings of patients with TPM3 mutations.
Fetal death as an outcome of acute respiratory distress in pregnancy, during the COVID-19 pandemic: a population-based cohort study in Bahia, Brazil
Authors: Carvalho-Sauer Rita , Flores-Ortiz Renzo , Costa Maria da Conceição N. , Teixeira Maria Gloria , Saavedra Ramon , Niag Marla , Paixao Enny S.
Published: May 2023

Background

Fetal loss is one of the most serious adverse outcomes of pregnancy. Since the onset of the COVID-19 pandemic, Brazil has recorded an unprecedented number of hospitalizations of pregnant women due to acute respiratory distress (ARD), thereby, we aimed to assess the risk of fetal deaths associated to ARD during pregnancy in Bahia state, Brazil, in the context of the COVID-19 pandemic.

Methods

This is an observational population-based retrospective cohort study, developed with women at or after 20 weeks of pregnancy, residents in Bahia, Brazil. Women who had acute respiratory distress (ARD) in pregnancy during the COVID-19 pandemic (Jan 2020 to Jun 2021) were considered 'exposed'. Women who did not have ARD in pregnancy, and whose pregnancy occurred before the onset of the COVID-19 pandemic (Jan 2019 to Dec 2019) were considered 'non-exposed'. The main outcome was fetal death. We linked administrative data (under mandatory registration) on live births, fetal deaths, and acute respiratory syndrome, using a probabilistic linkage method, and analyzed them with multivariable logistic regression models.

Results

200,979 pregnant women participated in this study, 765 exposed and 200,214 unexposed. We found four times higher chance of fetal death in women with ARD during pregnancy, of all etiologies (adjusted odds ratio [aOR] 4.06 confidence interval [CI] 95% 2.66; 6.21), and due to SARS-CoV-2 (aOR 4.45 CI 95% 2.41; 8.20). The risk of fetal death increased more when ARD in pregnancy was accompanied by vaginal delivery (aOR 7.06 CI 95% 4.21; 11.83), or admission to Intensive Care Unit (aOR 8.79 CI 95% 4.96; 15.58), or use of invasive mechanical ventilation (aOR 21.22 CI 95% 9.93; 45.36).

Conclusion

Our findings can contribute to expanding the understanding of health professionals and managers about the harmful effects of SARS-CoV-2 on maternal–fetal health and alerts the need to prioritize pregnant women in preventive actions against SARS-CoV-2 and other respiratory viruses. It also suggests that pregnant women, infected with SARS-CoV-2, need to be monitored to prevent complications of ARD, including a careful assessment of the risks and benefits of early delivery to prevent fetal death.
Baseline characteristics and analysis of predictors of the Outcome of septic pulmonary embolism in children: a retrospective observational study
Authors: Elmeazawy Rehab , El Amrousy Doaa
Published: May 2023

Background

Septic pulmonary embolism is a rare disease in children. We aimed to assess the clinical, microbiological, and radiological characteristics and outcomes of pediatric septic pulmonary embolism (SPE) and to identify any predictive factors for in-hospital mortality in patients with this unusual disease to enhance prognosis and treatment.

Methods

A retrospective study to search the electronic medical records of children admitted to the pediatric pulmonology unit, Tanta University hospital with the diagnosis of SPE between January 2015 and June 2022.

Results

Seventeen pediatric patients were identified; ten males and seven females with a mean age of 9.4 ± 5.2 years. The most common presenting complaints were fever and shortness of breath (n = 17) followed by chest pain (n = 9), pallor (n = 5), limb swelling (n = 4), and back pain (n = 1). Methicillin-resistant Staphylococcus aureus (MRSA) was the most common causative pathogen in nine patients. The most common extra-pulmonary septic foci were septic arthritis in five patients (29.4%), septic thrombophlebitis in four patients (23.5%), and infective endocarditis in two patients (11.8%). All patients exhibited wedge-shaped peripheral lesions and feeding vessel sign in CT chest, whereas bilateral diffuse lesions, nodular lesions, and cavitation were present in 94.1% of patients, pleural effusion was identified in 58.8% of patients, and pneumothorax was detected in 41.2% of patients. Fifteen patients improved and survived (88.2%), while two patients died (11.8%).

Conclusion

Early diagnosis of SPE with vigorous early therapy is critical for a better outcome, including appropriate antibiotics and timely surgical interference to eradicate extra-pulmonary septic foci.
Perceptions, beliefs, and current practices regarding neonatal skin care and emollient use in eastern Uganda: a qualitative study
Authors: Wenani Daniel , Burgoine Kathy , Williams Sarah LA , Musaba Milton , Gebremichael Tewodros , Clarke Andrew , Blanks Keona JH , Nantale Ritah , Nawanga Jascenti , Kiguli Sarah , English Mike , Waiswa Peter , Darmstadt Gary L , Matovu Joseph KB , Mukunya David
Published: May 2023

Background

The skin is a major route of infection in the neonatal period, especially in low birthweight (LBW) infants. Appropriate and safe neonatal skin care practices are required to reduce this risk. The perceptions and beliefs of mothers and other caregivers towards various neonatal skin care practices in our setting have been documented. Data from Asia suggests that the application of emollient to the skin of LBW infants can promote growth, reduce serious neonatal infections, and potentially reduce mortality. This is the first study to explore the acceptability of emollients and massage as part of neonatal skin care in a low-resource setting in sub-Saharan Africa (SSA) that is representative of the majority of government health facilities in Uganda and many in SSA.

Objective

To explore perceptions, beliefs, and current practices regarding neonatal skin care and emollient use in eastern Uganda.

Methods

We conducted a qualitative study consisting of three focus group discussions (30 participants), eight in-depth interviews with mothers/caregivers of preterm and term neonates and 12 key informant interviews with midwives, doctors and community health workers involved in neonatal care, to explore the perceptions and practices surrounding neonatal skin care and emollient use. Data collected were transcribed and analyzed using thematic content analysis.

Results

Mothers perceived that skin care began in utero. Skincare practices depended on the place of delivery; for deliveries in a health facility the skincare practices were mainly based on the health worker’s advice. Vernix caseosa was often washed off due to its perceived undesirability and was attributed to sexual intercourse in the last trimester. Despite their deleterious attributes found in previous studies, petrolatum-based oils, petrolatum-based jellies and talcum baby powders were the most commonly reported items used in neonatal skin care. In our population, there was high acceptability of emollient therapy use; however, neonatal massage was treated with scepticism as mothers feared damaging the vulnerable neonate. Mothers suggested massage and emollient application be undertaken by health workers, if it becomes an intervention.

Conclusions

In eastern Uganda, the perceptions and beliefs of mothers/caregivers toward neonatal skincare influenced their practices of which some could potentially be beneficial, and others harmful. Emollient use would be easily accepted if adequate sensitisation is conducted and using the gatekeepers such as health workers.
From court to the community: improving access to evidence-based treatment for underserved youth involved in the juvenile legal system at-risk for suicide
Authors: Wolff Jennifer , Modrowski Crosby A. , Janssen Tim , Frank Hannah E. , Velotta Sydney , Sheerin Kaitlin , Becker Sara , Weinstock Lauren M. , Spirito Anthony , Kemp Kathleen A.
Published: May 2023

Background

Juvenile legal involved youth (JLIY) experience disproportionately high rates of suicidal and self-injurious thoughts and behaviors (SSITB). Many JLIY lack access to evidence-based treatment specifically designed to treat SSITB, thereby increasing the overall risk of suicide. The overwhelming majority of JLIY are not placed in secure facilities and almost all incarcerated youth are eventually released to the community. Consequently, SSITB are a major concern of JLIY residing in the community and it is critical that this population has access to evidence-based treatment for SSITB. Unfortunately, most community mental health providers who treat JLIY have not been trained in evidence-based interventions that are specifically designed to SSITB, which often leads to youth experiencing prolonged periods of SSITB. Training community mental health providers who serve JLIY in the detection and treatment of SSITB shows promise for decreasing the overall suicide risk for JLIY.

Methods

The current proposal aims to reduce SSITB among JLIY, and thus reduce mental health disparities in this vulnerable and underserved youth population, by increasing access to evidence-based treatment strategies specifically designed to treat SSITB behaviors. We will implement an agency-wide training among at least 9 distinct community mental health agencies that serve JLIY referred to treatment by a statewide court system in the Northeast. Agencies will be trained in an adapted version of the COping, Problem Solving, Enhancing life, Safety, and Parenting (COPES+) intervention. Training will be implemented via a cluster-randomized stepped wedge trial that proceeds through multiple phases.

Discussion

This research engages multiple systems (i.e., juvenile legal and mental health systems) serving JLIY and has the potential to directly inform treatment practices in juvenile legal and mental health systems. The current protocol has significant public health implications as the primary goals are to reduce SSITB among adolescents involved in the juvenile legal system. By implementing a training protocol with community-based providers to help them learn an evidence-based intervention, this proposal aims to reduce mental health disparities in a marginalized and underserved population.

Trial registration

osf.io/sq9zt
National cervical cancer burden estimation through systematic review and analysis of publicly available data in Pakistan
Authors: Chughtai Novera , Perveen Kausar , Gillani Sehar Rahim , Abbas Aamir , Chunara Rumi , Manji Afshan Ali , Karani Salima , Noorali Ali Aahil , Zakaria Maheen , Shamsi Uzma , Chishti Uzma , Khan Adnan A. , Soofi Sajid , Pervez Shahid , Samad Zainab
Published: May 2023

Background

Cervical cancer is a major cause of cancer-related deaths among women worldwide. Paucity of data on cervical cancer burden in countries like Pakistan hamper requisite resource allocation.

Objective

To estimate the burden of cervical cancer in Pakistan using available data sources.

Methods

We performed a systematic review to identify relevant data on Pakistan between 1995 to 2022. Study data identified through the systematic review that provided enough information to allow age specific incidence rates and age standardized incidence rates (ASIR) calculations for cervical cancer were merged. Population at risk estimates were derived and adjusted for important variables in the care-seeking pathway. The calculated ASIRs were applied to 2020 population estimates to estimate the number of cervical cancer cases in Pakistan.

Results

A total of 13 studies reported ASIRs for cervical cancer for Pakistan. Among the studies selected, the Karachi Cancer Registry reported the highest disease burden estimates for all reported time periods: 1995–1997 ASIR = 6.81, 1998–2002 ASIR = 7.47, and 2017–2019 ASIR = 6.02 per 100,000 women. Using data from Karachi, Punjab and Pakistan Atomic Energy Cancer Registries from 2015–2019, we derived an unadjusted ASIR for cervical cancer of 4.16 per 100,000 women (95% UI 3.28, 5.28). Varying model assumptions produced adjusted ASIRs ranging from 5.2 to 8.4 per 100,000 women. We derived an adjusted ASIR of 7.60, (95% UI 5.98, 10.01) and estimated 6166 (95% UI 4833, 8305) new cases of cervical cancer per year.

Conclusion

The estimated cervical cancer burden in Pakistan is higher than the WHO target. Estimates are sensitive to health seeking behavior, and appropriate physician diagnostic intervention, factors that are relevant to the case of cervical cancer, a stigmatized disease in a low-lower middle income country setting. These estimates make the case for approaching cervical cancer elimination through a multi-pronged strategy.
Health-promoting lifestyle and its predictors among health-related and non-health-related university students in Taiwan: a cross-sectional quantitative study
Authors: Chao Dan-Ping
Published: May 2023

Background

University students majoring in different disciplines are believed to have different personality traits, courses exposure, and future roles, which may further affect their health behaviors and health status. The purpose of this study was to investigate the differences in health-promoting lifestyle (HPL) and its predictors among health-related and non-health-related students.

Methods

The research participants were university students in the main island of Taiwan, and a two-stage sampling approach was adopted to obtain the samples from November 2020 to March 2021. First, 37 universities were randomly selected based on the ratio of public and private universities in each region of Taiwan. Then, based on the ratio of health-related and non-health-related majors of selected university, 25–30 students were randomly drawn from each university according to the student ID number to complete self-administered questionnaires, which included items for personal factors, perceived health status (PHS), health conception (HC), and health-promoting lifestyle profile (HPLP). A total of 1062 valid questionnaires were recovered, including 458 from health-related students and 604 from non-health-related students. Chi-squared test, independent samples t-test, one-way ANOVA, Pearson product-moment correlation analysis, and multiple regression analysis were performed.

Results

The results showed that gender (p < 0.001), residential status (p = 0.023), body mass index (p = 0.016), and daily sleep duration (p = 0.034) of the students majoring in different disciplines were different. Health-related students having better HC (p = 0.002) and HPLP (p = 0.040) than non-health-related students. In addition, for both majors, females, low PHS scores, and low scores for functional/role, clinical, and eudaimonistic dimensions of HC were important indicators of a relatively negative HPLP, while health-related students who exercised 75 min or less per week and non-health-related students with a monthly disposable income of 15,000 TWD or less or who dined out 15 times or more per week also required attention in the promotion of HPL (health-related majors: adjusted R2 = 0.481,p < 0.001; non-health-related majors: adjusted R2 = 0.443,p < 0.001).

Conclusions

Students majoring in each discipline who had poor HPLP which is mentioned above should be prioritized in the provision of appropriate exercise or nutritional support programs on campus to promote their awareness and ability to pay attention to their health.
A single-center, open-label, randomized, parallel-group trial to pilot the effectiveness of a peer coach behavioral intervention versus an active control in reducing anxiety and depression in patients scheduled for total knee replacement
Authors: Jabri Assem , Domínguez Páez Yuliana , Brown Mackenzie , Lui Geyanne , Hui Wai-Kwong , Hernandez Noelia , Parks Michael L. , Gonzalez Della Valle Alejandro , Goodman Susan M. , Banerjee Samprit , Safford Monika M. , Navarro-Millán Iris
Published: May 2023

Background

Moving Well is a behavioral intervention for patients with knee osteoarthritis (KOA) scheduled for a total knee replacement (TKR). The objective of this intervention is to help patients with KOA mentally and physically prepare for and recover from TKR.

Methods

This is an open-label pilot randomized clinical trial that will test the feasibility and effectiveness of the Moving Well intervention compared to an attention control group, Staying Well, to reduce symptoms of anxiety and depression in patients with KOA undergoing TKR. The Moving Well intervention is guided by Social Cognitive Theory. During this 12-week intervention, participants will receive 7 weekly calls before surgery and 5 weekly calls after surgery from a peer coach. During these calls, participants will be coached to use principles of cognitive behavioral therapy (CBT), stress reduction techniques, and will be assigned an online exercise program, and self-monitoring activities to complete on their own time throughout the program. Staying Well participants will receive weekly calls of similar duration from research staff to discuss a variety of health topics unrelated to TKR, CBT, or exercise. The primary outcome is the difference in levels of anxiety and/or depression between participants in the Moving Well and Staying Well groups 6 months after TKR.

Discussion

This study will pilot test the feasibility and effectiveness of Moving Well, a peer coach intervention, alongside principles of CBT and home exercise, to help patients with KOA mentally and physically prepare for and recover from TKR.

Trial registration

Clinicaltrials.gov. NCT05217420; Registered: January 31, 2022.