Tag: pubmed

Genet Med. 2024 Nov 15:101330. doi: 10.1016/j.gim.2024.101330. Online ahead of print.

ABSTRACT

PURPOSE: Exome and genome sequencing (ES, GS) are useful tests to diagnose rare disease in pediatric patients in critical care settings. Genomic test stewardship can increase appropriate use of these tests leading to improved diagnostics and cost savings.

METHODS: Mandatory review of ES and GS orders for admitted patients was implemented in March 2023. Outcomes of the reviews, cost analysis, and subsequent test results through February 2024 were analyzed with descriptive statistics.

RESULTS: There were 444 Genetic Test Request (GTR) orders placed for 412 unique patients. Of these, 81 (18.2%) were redirected and 57 (12.8%) required modification after approval leading to an overall cost savings of $345,821.00 USD or $778 USD per order. The combined diagnostic rate was 28.2% in this patient population.

CONCLUSION: Stewardship of ES/GS orders for pediatric inpatients is an effective tool to improve appropriate usage of these genomic tests. Additional collaboration with stakeholders and expansion of genomic stewardship initiatives may shorten the diagnostic odyssey for critically ill pediatric patients and result in cost savings.

PMID:39559977 | DOI:10.1016/j.gim.2024.101330

East Mediterr Health J. 2024 Sep 1;30(8):561-569. doi: 10.26719/2024.30.8.561.

ABSTRACT

BACKGROUND: Pediculus humanus capitis (head lice) infestation is a global health concern, yet no study has examined its occurrence among primary school children in Tunisia.

AIM: To assess the prevalence of Pediculus capitis and its epidemiological characteristics among primary school children living in rural and urban areas of Monastir, Tunisia.

METHODS: We used 2-step stratified cluster sampling to randomly select 2396 children from 14 primary schools in Monastir during the 2022/2023 academic year. Head lice infestation was assessed through visual inspection of the hair, and data on the socio-demographic characteristics, lifestyle and pediculosis history of the children were collected. We used SPSS version 20 to analyse the data and used descriptive statistics to rate the frequencies. Multivariate logistic regression was used to examine the association between pediculosis and the predictor variables.

RESULTS: Overall infestation rate was 17.5% (95% CI 16.0-19.1%); infestation was 5 times higher among girls (29.1%) than boys (6.3%). Schoolchildren living in crowded family households, those in the third and fourth grades and whose parents had low education level were more exposed to infestation. Combing frequency, comb sharing and history of previous infestation had significant impact (P < 0.05) on the prevalence of pediculosis. Multivariate logistic regression showed gender and treatment outcome as the main potentiating factors.

CONCLUSION: These findings highlight the need for pediculosis prevention and integrated health promotion programmes among primary school children and their parents, teachers and nurses in Monastir and other parts of Tunisia.

PMID:39559973 | DOI:10.26719/2024.30.8.561

Pediatr Transplant. 2024 Dec;28(8):e14894. doi: 10.1111/petr.14894.

ABSTRACT

BACKGROUND: Rejection remains an important cause of morbidity and mortality after pediatric heart transplantation (HT). Endomyocardial biopsy (EMB) is the gold standard for rejection diagnosis, but it comes with procedural risk. The frequency of EMB varies significantly across centers. Since April 2018, our center’s surveillance EMB schedule is based on a rejection risk prediction score employing age, pre-HT diagnosis, and panel reactive antibodies (PRA). We aimed to evaluate outcomes in the 1st year post-HT before and after risk score implementation.

METHODS: Patients who underwent HT at our center at ≤ 18 years of age from January 2015 to December 2020 were reviewed. The primary endpoint was rejection-free survival at 1 year-post- HT. Clinical characteristics were compared for patients transplanted in Era 1 (January 2015-April 2018) and Era 2 (April 2018-December 2020). Cumulative 1-year survival free from rejection and from rejection with hemodynamic compromise (RHC) was compared between eras using Kaplan-Meier survival analysis.

RESULTS: 115 patients underwent HT during our study period (52 in Era 1 and 63 in Era 2). There was an increase in VAD utilization between eras (19% in Era 1 vs. 40% in Era 2, p = 0.025), but otherwise no significant difference in demographic or clinical variables between the two eras. No statistically significant difference in freedom from rejection or freedom from RHC was identified between the two eras. There was a 60% reduction in the median number of EMB per patient in the first year post-HT after employing the score (5 in Era 1 vs. 2 in Era 2, p < 0.001).

CONCLUSIONS: After employing a rejection risk prediction score, our center decreased the frequency of EMB without worsening early post-HT outcomes, thus establishing the clinical applicability of this tool.

PMID:39559942 | DOI:10.1111/petr.14894

Int J Oral Implantol (Berl). 2024 Nov 19;17(4):401-408.

ABSTRACT

PURPOSE: Zygomatic implants are considered one of the last options for the rehabilitation of severe maxillary atrophy when standard implants cannot be placed. They offer several advantages but can also present complications. This study aimed to investigate the long-term clinical and radiographic outcomes of zygomatic implant placement.

MATERIALS AND METHODS: A retrospective chart review was conducted, and the inclusion criteria consisted of patients previously treated with zygomatic implants who had Class V or VI maxillary bone atrophy according to Cawood and Howell, and with a minimum follow-up period of 2 years after prosthetic loading. Outcome measures included implant and prosthesis survival rate, biological and biomechanical complications, and Lund-Mackay staging score before and after implant placement.

RESULTS: The study included 78 patients who received a total of 274 zygomatic implants. The mean follow-up period was 90.4 ± 26.0 months. Seventeen implant failures occurred, resulting in a survival rate of 93.8%, with a statistically significant negative correlation with smoking habits (P = 0.049), anchorage to the two zygomatic bone cortices (bicorticality) (P 0.001) and soft tissue complications (P 0.001). The prosthetic success rate was 92.3%. A statistically significant increase in maxillary sinus radiopacity was recorded when comparing the situation before and after surgery (P 0.001), and the intrasinus pathway had a statistically significant influence on that increase (P = 0.003).

CONCLUSIONS: Zygomatic implants utilised for rehabilitating patients with severe maxillary atrophy have shown favourable outcomes. Nonetheless, owing to potential complications, strict case selection is necessary, combined with regular recall visits and proper oral hygiene maintenance. Furthermore, this type of surgery necessitates specialised training and expertise on the part of the practitioner.

PMID:39559940

J Prev Alzheimers Dis. 2024;11(6):1818-1825. doi: 10.14283/jpad.2024.133.

ABSTRACT

OBJECTIVE: This study aimed to investigate the relationship between childhood adversity and cognitive impairment in older adults.

METHODS: We analysed data from 1568 participants aged 72-79 (M = 75.1, SD = 1.5, % male = 52.6%) from Wave 4 of the Personality and Total Health (PATH) Through Life Project. The outcome variable was the presence of mild cognitive impairment (MCI) or dementia, determined through a clinically validated algorithmic diagnostic criteria. Childhood adversity was assessed using a 17-item scale covering various domestic adversities such as poverty, neglect, physical abuse, and verbal abuse. Adversity was operationalised using cumulative analysis, dichotomisation (<3 adversities; 3+ adversities), and latent class analysis. Multiple logistic regressions were employed to estimate the association between childhood adversity and cognitive impairment, while controlling for covariates including education, gender, ethnicity, and APOE ε4 status.

RESULTS: Our analyses revealed no significant association between childhood adversity and the presence of MCI or dementia across all tested models. Sensitivity analyses, exploring alternative scenarios, consistently failed to yield statistically significant findings.

CONCLUSION: In contrast to prevailing research findings, this study does not support a link between childhood domestic adversity and late-life cognitive outcomes. These results underscore the mixed results on adversity and cognition, highlighting the need for further research. Future investigations should consider the roles of potential mediating and protective factors within this complex relationship.

PMID:39559893 | DOI:10.14283/jpad.2024.133

J Prev Alzheimers Dis. 2024;11(6):1789-1797. doi: 10.14283/jpad.2024.132.

ABSTRACT

BACKGROUND: The potential of biomarkers in the detection of Alzheimer’s disease (AD) is prominent. Acoustics may be useful in this context but the evaluation and weighting for specific acoustic parameters on continuous speech is missing. This meta-analysis aimed to explore the significance of acoustic parameters from acoustic speech analysis on continuous speech, as a diagnostic tool for clinical AD.

METHODS: Applying PRISMA protocol, a comprehensive search was done in MEDLINE, Scopus, Web of Science, and CENTRAL, from 1960 to January 2024. Cross-sectional studies comparing the acoustic speech analysis between AD patients and healthy controls (HC), were taken into account. The bias risk of the included studies were examined via JBI checklist. Using Review Manager v.5.4.1, the mean differences of acoustic speech parameters among AD and HC were weighted, and the pooled analysis and the heterogeneity statistics were conducted.

RESULTS: In total, 1112 records (without duplicates) were obtained, and 11 papers with 7 acoustic parameters were included for this study, and 8 from 11 studies were identified with a low level of bias. Five from 7 acoustic parameters revealed significant differences among the two groups (p-values ≤ 0.01), in which for all rate-related and interruption-related acoustic parameters were the most prominent and less in temporal-related acoustic parameters.

CONCLUSIONS: Although a small number of acoustic parameters on continuous speech could be evaluated in the detection of clinical AD, the greatest potential of acoustic biomarkers for AD appeared to exist in two of three categories. Further contributions of high-quality studies are needed to support evidence for acoustics as biomarkers for AD.

PMID:39559890 | DOI:10.14283/jpad.2024.132

J Prev Alzheimers Dis. 2024;11(6):1734-1740. doi: 10.14283/jpad.2024.162.

ABSTRACT

BACKGROUND: Past research suggests that subjective cognitive decline serves as an early and potentially important indicator that individuals may be at risk for future cognitive decline or neurodegenerative conditions. However, there is a dearth of studies on factors influencing the experience of subjective cognitive decline in Black Americans, especially in Black American men.

OBJECTIVE: The current study explored correlates of subjective cognitive decline in Black American men.

PARTICIPANTS: A total of 117 Black American men, with a mean age of 38.5 (SD = 7.14) years, participated in the study.

MEASUREMENT: Participants completed a survey that assessed their demographic characteristics, self-rated health, neighborhood problems, length of residency in neighborhood, bodily symptoms, sleep comorbidities, sleep difficulties, and subjective cognitive decline. Linear regression analyses was performed and standardized beta coefficients were reported to describe the estimated independent effect of the predictor variables.

RESULTS: We found that socioecomic status (β = -.222, p=.003), bodily symptoms (β = .246, p=.005), length of residency in neighborhood (β = .157, p=.029), and sleep difficulties (β = .305, p<.001) were significant correlates of subjective cognitive decline among Black American men.

CONCLUSION: These findings underscore the intricate roles of socioeconomic status, bodily symptoms, neighborhood factors, and sleep health in shaping subjective cognitive experiences in this population. Research on subjective cognitive decline can contribute to the early identification of individuals at risk for cognitive decline, allowing for timely interventions, lifestyle modifications, and potential preventive measures.

PMID:39559884 | DOI:10.14283/jpad.2024.162

Rev Esp Enferm Dig. 2024 Nov 19. doi: 10.17235/reed.2024.10719/2024. Online ahead of print.

ABSTRACT

INTRODUCTION: Diagnosing perihilar cholangiocarcinoma can be challenging. Previous studies suggest that the sensitivity of taking three cholangioscopy-guided biopsies is approximately 70%. We hypothesized that obtaining four or more biopsies might improve the sensitivity for diagnosing perihilar cholangiocarcinoma.

OBJECTIVE: To determine the acceptable number of cholangioscopy-guided biopsies to improve sensitivity for diagnosing perihilar cholangiocarcinoma.

METHODS: This retrospective study analyzed clinical records of adults with perihilar stenosis who underwent cholangioscopy-guided biopsies. Patients with gallbladder cancer or metastatic bile duct obstruction were excluded. Data were grouped based on the number of biopsies taken: Group A (1 to 3 biopsies), Group B (4 to 6 biopsies), and Group C (7 to 10 biopsies). Results from each group were compared against a composite standard, including clinical follow-up and/or biopsies performed by alternative methods.

RESULTS: The group that underwent 4 to 6 biopsies had a sensitivity of 77.4%, while the group with 7 to 10 had a sensitivity of 70.8%. The group with 1 to 3 biopsies had a sensitivity of 34.5%. Statistically significant differences were observed between the groups, with comparisons showing improved sensitivity in the 4 to 6 biopsy group versus the 1 to 3 biopsy group (χ² = 14.42, P = 0.0001), and the 7 to 10 biopsy group versus the 1 to 3 biopsy group (χ² = 6.56, P = 0.010).

CONCLUSIONS: Performing 4 to 6 cholangioscopy-guided biopsies significantly improves sensitivity for diagnosing perihilar cholangiocarcinoma compared to 1 to 3 biopsies. Further studies are needed to validate these findings.

PMID:39559864 | DOI:10.17235/reed.2024.10719/2024

Sports Biomech. 2024 Nov 19:1-15. doi: 10.1080/14763141.2024.2423097. Online ahead of print.

ABSTRACT

This study aimed to clarify the disparities in trunk rotation and attack arm movement and their effect on hand kinematics adjustments between straight-line (SL) and diagonal-line (DL) volleyball jump serves. Thirteen male professional volleyball players (age 21.53 ± 5.39 years, height 1.95 ± 0.06 m, body mass 86.48 ± 11.63 kg, experience 8.61 ± 3.47 years) performed SL and DL jump serve, with three-dimensional coordinate data captured using a motion capture system (200 hz). Paired t-test and statistical parametric mapping examined kinematic differences between the two serving directions. At ball contact (BC), the speed of the attack arm hand was significantly faster in DL (16.99 ± 1.36 m/s) compared to SL (16.37 ± 1.53 m/s), whereas the face angle was significantly smaller in DL (1.98 ± 11.75°) than in SL (17.60 ± 17.98°). Forward rotation angles of the pelvic and upper torso at BC were significantly greater in DL (28.47 ± 10.89°; 21.30 ± 10.25°) than in SL (18.27 ± 12.46°; 9.09 ± 14.41°). During the arm swing phase, the pelvic’s forward rotation angles in DL were significantly greater than in SL at 42-72% spiking motion, and the upper torso’s angles were significantly greater at 49-58% spiking motion. These findings underscore the importance of adjusting pelvic and upper torso rotations to control the hand’s face angle when serving in the diagonal line.

PMID:39559849 | DOI:10.1080/14763141.2024.2423097

Int Angiol. 2024 Nov 19. doi: 10.23736/S0392-9590.24.05323-9. Online ahead of print.

ABSTRACT

INTRODUCTION: We investigated the safety and feasibility of the available interventions in the treatment of recurrent varicose vein disease.

EVIDENCE ACQUISITION: A systematic search on Medline, Scopus, and Web of Science for articles published by August 2024 was performed. Primary endpoints included duplex ultrasonography (DUS)-identified recurrence and clinical recurrence.

EVIDENCE SYNTHESIS: Twenty-eight studies, eleven describing endovenous thermal ablation (EVTA), four ultrasound-guided foam sclerotherapy (UGFS), and thirteen surgery (high ligation with or without stripping) encompassing 2228 limbs, were included. The overall DUS-detected recurrence estimate was 11.84% (95% CI: 7.15-17.40). EVTA displayed the lowest recurrence of 4.27% (95% CI: 0.37-10.75), followed by UGFS 11.19% (95% CI: 6.80-16.42) and surgery 23.27% (95% CI: 15.35-32.19). Statistically significant differences were observed between surgery and both EVTA (P<0.01) and UGFS (P=0.01). The overall clinical recurrence estimate was 24.91% (95% CI: 10.40-42.96) with EVTA portraying the lowest clinical recurrence of 2.37% (95% CI: 0.00-16.81), followed by surgery 31.08% (95% CI: 14.43-50.63). Subgroup analysis identified statistically significant differences between EVTA and surgery (P=0.01). Whereas non-statistically significant differences were identified between the included interventions regarding paresthesia and deep vein thrombosis (DVT), surgery exhibited higher wound infection estimates compared to EVTA of 0.00% (95% CI: 0.00-0.80) versus 4.34% (95% CI: 2.21-7.02, P<0.01). The pooled hematoma and lymphatic complication estimates for surgery were 5.04% (95% CI: 0.50-12.87) and 5.71% (95% CI: 2.91-9.22) respectively.

CONCLUSIONS: This review demonstrated the superior efficacy of EVTA over surgery in treating recurrent varicose vein disease corroborating its use as the preferred treatment, when feasible. Additionally, UGFS displayed comparable outcomes to EVTA. The notable recurrence estimates associated with surgery call into question its suitability within this context.

PMID:39559844 | DOI:10.23736/S0392-9590.24.05323-9