bluuebunny/crossref_metadata_2025_split huggingface dataset:
Methylmalonic aciduria as a biochemical marker for mitochondrial DNA depletion syndrome in patients with developmental delay and movement disorders: a case series
Authors: Almudhry Montaha , Saini Arushi Gahlot , Al-Omari Mohammed A. , Sharma Yashu , Nouri Maryam Nabavi , Rupar C. Anthony , Prasad Chitra , Yu Andrea C. , Attri Savita Verma , Prasad Asuri Narayan 
Published: November 2023

BackgroundMitochondrial DNA (mtDNA) depletion syndromes (MDDS) are genetically and clinically variable disorders resulting from a reduction in mtDNA content in the cells, tissues, and organ systems, leading to symptoms related to energy deficits. Deficiency of the mitochondrial succinyl-CoA ligase/synthetase enzyme secondary to pathogenic variations in the SUCLG1 and SUCLA2 genes is a subtype of MDDS that presents with neurological manifestations and a specific biochemical profile.MethodsThis cross-sectional series describes five patients with MDDS secondary to pathogenic variations in the SUCLG1 and SUCLA2 genes from two tertiary care centers in Canada and India. Clinical data concerning the course, investigations, and outcome were gathered through chart reviews.ResultsAll subjects presented in early infancy with neurological manifestations, including movement disorder, psychomotor regression, developmental delay, hearing loss, behavioral issues, or a combination thereof. Elevated methylmalonic acid metabolites, an abnormal acylcarnitine profile, and lactic acidemia were noted in the biochemical profile of each patient (n = 5/5, 100%). Molecular genetic testing disclosed the presence of pathogenic homozygous mutations in four subjects and compound heterozygosity in one subject.ConclusionMDDS associated with SUCLG1 and SUCLA2 genes can be detected biochemically by the presence of methylmalonic aciduria besides the elevation of lactate, C3, C4DC, and C5-OH acylcarnitine. Conducting metabolic workups including MMA and acylcarnitine profiles in patients with heterogeneity of clinical symptoms associated with the presence of this biochemical marker may potentially reduce the time to diagnosis and management.
Nutritional counseling in athletes: a systematic review
Authors: Fiorini Simona , Neri Lenycia De Cassya Lopes , Guglielmetti Monica , Pedrolini Elisa , Tagliabue Anna , Quatromoni Paula A. , Ferraris Cinzia 
Published: November 2023

Many studies report poor adherence to sports nutrition guidelines, but there is a lack of research on the effectiveness of nutrition education and behavior change interventions in athletes. Some studies among athletes demonstrate that nutrition education (NE), often wrongly confused with nutritional counseling (NC), alone is insufficient to result in behavior change. For this reason, a clear distinction between NC and NE is of paramount importance, both in terms of definition and application. NE is considered a formal process to improve a client’s knowledge about food and physical activity. NC is a supportive process delivered by a qualified professional who guides the client(s) to set priorities, establish goals, and create individualized action plans to facilitate behavior change. NC and NE can be delivered both to individuals and groups. To our knowledge, the efficacy of NC provided to athletes has not been comprehensively reviewed. The aim of this study was to investigate the current evidence on the use and efficacy of nutritional counseling within athletes. A systematic literature review was performed based on the Preferred Reporting Items for Systematic Reviews and Meta-Analyses method. The search was carried out in: PubMed, Scopus, Web of Science, Science Direct, Cochrane Library between November 2022 and February 2023. Inclusion criteria: recreational and elite athletes; all ages; all genders; NC strategies. The risk of bias was assessed using the RoB 2.0 Cochrane tool. The quality of evidence checking was tested with the Mixed Methods Appraisal Tool system. From 2,438 records identified, 10 studies were included in this review, with athletes representing different levels of competition and type of sports. The most commonly applied behavior change theory was Cognitive Behavioral Theory. NC was delivered mainly by nutrition experts. The duration of the intervention ranged from 3 weeks to 5 years. Regarding the quality of the studies, the majority of articles reached more than 3 stars and lack of adequate randomization was the domain contributing to high risk of bias. NC interventions induced positive changes in nutrition knowledge and dietary intake consequently supporting individual performance. There is evidence of a positive behavioral impact when applying NC to athletes, with positive effects of NC also in athletes with eating disorders. Additional studies of sufficient rigor (i.e., randomized controlled trials) are needed to demonstrate the benefits of NC in athletes.Systematic review registrationhttps://www.crd.york.ac.uk/prospero/, identifier CRD42022374502.
Case Report: Bilateral syringocele in an adolescent—area of focus
Authors: Osipov I. B. , Lebedev D. A. , Uzintseva A. A. , Sidorova N. A. 
Published: November 2023

RationaleCystic dilatation of the bulbourethral gland duct (Cowper's syringocele, CS) is a rare urethral pathology. No more than 150 cases of CS have been reported in the literature, of which the vast majority are children with a unilateral location. Bilateral CS has been reported in eight cases; however, detailed anatomy and clinical manifestations have not been reported. In this study, we report a case of bilateral CS with cavity junctions through the medial septum and its successful minimally invasive treatment in an adolescent.Case presentationA 16-year-old adolescent patient complained of painful urination and post-micturition urinary dribbling. Magnetic resonance imaging (MRI), urethrography, and ureteroscopy data enabled the establishment of the diagnosis and determination of the type of CS. The surgical treatment that was performed was endoscopic marsupialization of both CS chambers. At follow-up examination after 7 months, the complaints had ceased, and there was complete normalization of urination. The maximum flow rate during uroflowmetry was 35 ml per second, on voiding cystourethrography, the residual cavities were not contrasted, and there was no residual urine or bacteriuria.ConclusionMRI and retrograde urethrography made it possible to visualize changes in the bulbous part of the urethra, and ureteroscopy was the leading imaging modality. These studies was applied precisely because of the suspicion of the presence of a cavity communicating with the urethra. Minimally invasive surgical treatment for double-chamber CS was successful with no resulting complications.
Comparison of clinical outcomes following delivery of budesonide by both vibrating mesh nebulizer and jet nebulizer in premature infants with bronchopulmonary dysplasia
Authors: Zhou Jian-Fu , Zhang Yi-Bing , Zhang Zhi-Wei 
Published: November 2023

BackgroundThis study aimed to compare the efficacy of budesonide inhalation suspension administered via a vibrating mesh nebulizer vs. a jet nebulizer in the treatment of premature infants with bronchopulmonary dysplasia (BPD) undergoing high-frequency oscillatory ventilation (HFOV).MethodsBetween July 2020 and July 2022, we retrospectively analyzed the medical records of 36 preterm infants diagnosed with BPD who underwent HFOV. Based on the nebulizer type used, infants were categorized into the vibrating mesh nebulizer group (VMN group) or the jet nebulizer group (JN group). Post-nebulization outcomes, such as the duration of mechanical ventilation, length of stay in the neonatal intensive care unit (NICU), ventilator-associated parameters, and arterial blood gas metrics, were compared between the two groups. Treatment-associated complications were also documented.ResultsNo significant differences were noted between the VMN and JN groups in terms of mechanical ventilation duration (p = 0.519), NICU length of stay (p = 0.112), ventilator-associated parameters, or complications (p = 0.700). However, after 2 weeks of treatment, the oxygenation index (p = 0.012) and arterial partial pressure of carbon dioxide (p = 0.006) were more favorable in the VMN group compared to the JN group.ConclusionAmong premature infants with BPD on HFOV, for administration of budesonide inhalation suspension resulted in an improved oxygenation index and reduced arterial partial pressure of carbon dioxide when compared to a jet nebulizer, indicating superior therapeutic efficacy.
Effects of high-intensity interval training program on pituartry function in basketball players: a randomized controlled trial
Authors: Soslu Recep , Uysal Abdullah , Devrilmez Meltem , Can Çuvalcıoğlu İsmail , Doğan Ali Ahmet , Karaburgu Sülbiye , Taş Murat 
Published: November 2023

The aim of the study was to determine how the short high-interval training program affects cortisol levels in basketball players. A total of 27 male basketball players volunteered for the study and were randomly assigned to one of two groups: Control Group (CG) (n = 13, mean age; 20,56 ± 1,45 years, mean height; 184,53 ± 6,65 cm) and Experimental Group (EG) (n = 14, mean age; 20,71 ± 2,12 years, mean height; 86,51 ± 8,21 cm). The experimental group received a 7-week interval training program. Blood samples were taken at the beginning and end of the study. Cortisol, Adrenocorticotropic Hormone, Triiodothyronine, Tetraiodothyronine, Parathyroid Hormone, Thyroid Stimulating Hormone, Insulin, and Glucose levels were measured of the EG and CG. To test the differences between groups and compare the effects of pre and post-intervention, a two-way ANOVA for repeated measures was used. Consequently, the post-test levels of TSH, PTH, and ACTH in the exercise group showed a significant difference when compared to the pre-test values (p = 0.000). Moreover, the post-test levels of Glucose, Cholesterol, Triglyceride, HDL, and Mg in the exercise group showed statistical significance when compared to the pre-test values (p = 0.000). Significant differences were seen in the post-test PTH and ACTH levels of the control group when compared to the pre-test values (p = 0.000). Furthermore, the exercise group showed significant differences in post-test values for HDL and Cholesterol compared to the pre-test (p = 0.000). In addition, when comparing the post-test values and pre-test values of both the exercise group and the control group, it was found that all parameters, with the exception of Ca, exhibited substantial differences in favor of the exercise group. It may be claimed that the implementation of interval training has favorable outcomes on pituitary function parameters. Additionally, the regulation of energy consumption during exercise is favourably influenced, along with the reduction of physiological stress resulting from prolonged exercise.
Geographical and life-history traits associated with low and high species richness across angiosperm families
Authors: Ferrer Miriam Monserrat , Vásquez-Cruz Marilyn , Hernández-Hernández Tania , Good Sara V. 
Published: November 2023

IntroductionThe phenomenal expansion of angiosperms has prompted many investigations into the factors driving their diversification, but there remain significant gaps in our understanding of flowering plant species diversity.MethodsUsing the crown age of families from five studies, we used a maximum likelihood approach to classify families as having poor, predicted or high species richness (SR) using strict consensus criteria. Using these categories, we looked for associations between family SR and i) the presence of an inferred familial ancestral polyploidization event, ii) 23 life history and floral traits compiled from previously published datasets and papers, and iii) sexual system (dioecy) or genetically determined self-incompatibility (SI) mating system using an updated version of our own database and iv) geographic distribution using a new database describing the global distribution of plant species/families across realms and biomes and inferred range.ResultsWe find that more than a third of angiosperm families (65%) had predicted SR, a large proportion (30.2%) were species poor, while few (4.8%) had high SR. Families with poor SR were less likely to have undergone an ancestral polyploidization event, exhibited deficits in diverse traits, and were more likely to have unknown breeding systems and to be found in only one or few biomes and realms, especially the Afrotropics or Australasia. On the other hand, families with high SR were more likely to have animal mediated pollination or dispersal, are enriched for epiphytes and taxa with an annual life history, and were more likely to harbour sporophytic SI systems. Mapping the global distribution of georeferenced taxa by their family DR, we find evidence of regions dominated by taxa from lineages with high vs low SR.DiscussionThese results are discussed within the context of the literature describing “depauperons” and the factors contributing to low and high biodiversity in angiosperm clades.
Anxiety and depression in geriatric hemodialysis patients: factors that influence the border of diseases
Authors: Elezi Brunilda , Abazaj Erjona , Zappacosta Bruno , Hoxha Malvina 
Published: November 2023

IntroductionThe two main psychological issues that people with end-stage renal disease (ESRD) experience are depression and anxiety. We conducted this study to determine both the prevalence of depression and anxiety, and the factors associated with them, among hemodialysis patients.MethodsPatients aged 18 years or older, who had received hemodialysis in a hemodialysis center in Elbasan, for at least 3 months were included in this study. Beck Anxiety Inventory and Beck Depression Inventory Instruments were used to assess hemodialysis patients levels of depression and anxiety.ResultsOverall, 107 hemodialysis patients (men 65.4%) with a mean age of 57 ± 8.9 years were enrolled in the study. The prevalence of anxiety and depression resulted to be 85.98, and 84.11%, respectively. We found a significant difference in depression and anxiety scores in patients age groups of 61–70 years old (OR = 1.8; 95% CI [0.7–3.7]; p = 0.041), in non-smoking patients (OR 3.4; 95% CI [1.09–8.2]; p = 0.04), in diabetic patients (OR 3.4; 95% CI [1.09–8.2]; p = 0.04), and in patients with a time in dialysis of 6–10 years and &gt;11 years, respectively, (OR 3.4; 95% [1.5–9.0]; p = 0.01), (OR1.3; 95% CI [0.4–3.6]; p = 0.04).ConclusionOur study shows that the prevalence of mental disorders (depression and anxiety) is high among patients with ESRD on maintenance hemodialysis. We recommend a routine screening and referral to psychological health specialists to evaluate the mental health disorders among hemodialysis patients with the primary aim of improving their quality of life.
Tailoring the continuum of care for substance use problems to persons with an Islamic migration background: a co-creative case study
Authors: Pouille Aline , Bouachiba Arafat , De Ruysscher Clara , Vander Laenen Freya , Vanderplasschen Wouter 
Published: November 2023

IntroductionStructural inequity and stigma impose barriers toward substance use prevention and recovery support for persons with an Islamic migration background in non-Islamic majority countries. Similar issues of differential power often keep them silenced in research. Therefore, we explore the continuum of care for substance use problems regarding persons with an Islamic migration background.MethodsWe draw from a co-creative case study with Arafat, whose lived and professional experiences as a Muslim with a history of problem substance working in the field, were blended with academic literature through the process of ‘plugging in’.ResultsWe discuss (1) culturally competent and selective substance use prevention, (2) facilitating access to adequate support services, (3) culturally competent substance use treatment and (4) supporting long-term recovery for persons with an Islamic background from a combined academic, professional and lived experiences perspective.DiscussionWe discuss the need for tailored interventions that are able to overcome structural inequities and address ethnocultural sensitivities, needs and strengths. Intermediary community organizations, cultural competence of treatment and recovery-oriented systems of care may bridge the gaps between what is needed and what is available. However, it is important to be conscious that hands-on solutions at the personal level do not absolve the responsibility of searching for systemic solutions. Furthermore, awareness of the fine line between cultural competence and culturalization, taking into account the danger of essentializing, othering and overlooking other intersectional traits of diversity, is needed.
Sex differences evident in elevated anxiety symptoms in multiple sclerosis, inflammatory bowel disease, and rheumatoid arthritis
Authors: Joyees Jerlin , Marrie Ruth Ann , Bernstein Charles N. , Bolton James M. , Fisk John D. , Graff Lesley A. , Hitchon Carol , Patten Scott B. , Kowalec Kaarina ,   for the CIHR team in defining the burden and managing the effects of psychiatric comorbidity in chronic immunoinflammatory disease
Published: November 2023

IntroductionImmune-mediated inflammatory diseases (IMID), such as multiple sclerosis (MS), inflammatory bowel disease (IBD) or rheumatoid arthritis (RA) have high rates of elevated anxiety symptoms. This can may worsen functioning and increase IMID disease burden. The rate of and factors associated with elevated anxiety symptoms may differ between males and females, which, in turn can affect diagnosis and disease management. We evaluated whether the frequency and factors associated with comorbid elevated anxiety symptoms in those with an IMID differed by sex.MethodsParticipants with an IMID (MS, IBD or RA) completed two anxiety measures (HADS, GAD-7). We used logistic regression to investigate whether sex differences exist in the presence of comorbid elevated anxiety symptoms or in the endorsement of individual anxiety items in those with an IMID.ResultsOf 656 participants, females with an IMID were more likely to have elevated anxiety symptoms compared to males (adjusted odds ratio [aOR] 2.05; 95%CI: 1.2, 3.6). Younger age, higher depressive symptoms and income were also associated with elevated anxiety symptoms in IMID. Lower income in males with an IMID, but not females, was associated with elevated anxiety symptoms (aOR: 4.8; 95%CI: 1.5, 15.6). No other factors demonstrated a sex difference. Males had nearly twice the odds of endorsing restlessness on the GAD-7 (OR = 1.8, 95%CI: 1.07, 3.15) compared to females.DiscussionWe found evidence for sex differences in the factors associated with experiencing elevated anxiety symptoms in those with an IMID. These findings could be helpful to sensitize clinicians to monitor for comorbid anxiety symptoms in males with an IMID.
The effect of the COVID-19 pandemic on the provision of outpatient clinic services in East Jerusalem hospitals: patients’ perspectives
Authors: Ahmead Muna , Daghlas Firas 
Published: November 2023

BackgroundDue to the decreased availability, accessibility, and quality of services, the COVID-19 pandemic has an impact on the healthcare system. In the wake of the COVID-19 pandemic, patients’ perceptions of healthcare have changed, and out-patient visits to clinics have decreased. As part of the COVID-19 outbreak in East Jerusalem, this study aims to assess how patients perceive the way that outpatient clinic services were delivered before and during COVID-19 outbreak.MethodologyConvenience sampling and self-reported questionnaires were used in a cross-sectional study. Three hundred people from three significant outpatient clinic hospitals in East Jerusalem-Al-Makassed Hospital, Augusta Victoria Hospital, and Sant-Joseph Hospital- made up the sample. Multivariate tests, frequencies, and percentages were used in the statistical analysis.ResultsThe results showed that the most of the participants (98.6%) had negative opinion when the current situation is compared with before the COVID-19 period in terms of accessibility, availability of resources, quality of care, attitudes and patient’s preference. Finally, multivariate analysis indicated a significant relationship between participant opinion and education level and participants with educational levels of 12 study years or less had more positive opinions of the delivery of the healthcare system during the COVID-19 outbreak period than the group with more than 12 study years. Also, the multivariate analysis revealed a significant `relationship between participant opinion and the duration of the illness as those with years of illness and less had more negative opinion toward the delivery of the healthcare system than those with more than 3 years of illness.ConclusionThis study found that when the current situation during the COVID-19 outbreak is compared to before the COVID-19 period in terms of accessibility, availability of resources, quality of care, attitudes, and patient preferences, the majority of the participants with chronic diseases or cancer had a negative opinion. Policymakers and health managers should enhance patient preferences and attitudes during the COVID-19 pandemic and other pandemics by increasing accessibility, availability of health resources, and the quality of healthcare.
Family Caregivers Employed by Home Care Agencies: Lessons Learned From Switzerland and the United States
Authors: Bischofberger Iren , Vetter Mary Jo 
Published: November 2023

Background: Increasing demands for home care staff has been triggered in the past decades by shorter hospital length of stay, and a shift of responsibility for complex care regimens to private households. Therefore, an innovative model to employ family caregivers in home care agencies is expanding in Switzerland and the United States. This policy brief aims to identify core characteristics of the model and analyze its potential benefits and challenges.Evidence: The model is expanding based on legal ground but without the requisite scientific evidence. After an initial patient assessment by a registered nurse, and assigned hands-on tasks to family caregivers, the salary is derived from payer reimbursement.Policy Options and Recommendations: Standards need to be in place to determine the family caregivers qualification that are specific to the client situation of all age groups. Supervision of quality of care, labor law, and blurred roles of biographical relationships remains at the responsibility of the home care agency.Conclusion: Further research for the data-driven exploration of the model is needed to inform the many stakeholders involved.