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1.
Environ Sci Technol ; 2024 Sep 19.
Article in English | MEDLINE | ID: mdl-39297340

ABSTRACT

The machine-learning tool MS2Tox can prioritize hazardous nontargeted molecular features in environmental waters, by predicting acute fish lethality of unknown molecules based on their MS2 spectra, prior to structural annotation. It has yet to be investigated how the extent of molecular coverage, MS2 spectra quality, and toxicity prediction confidence depend on sample complexity and MS2 data acquisition strategies. We compared two common nontargeted MS2 acquisition strategies with liquid chromatography high-resolution mass spectrometry for structural annotation accuracy by SIRIUS+CSI:FingerID and MS2Tox toxicity prediction of 191 reference chemicals spiked to LC-MS water, groundwater, surface water, and wastewater. Data-dependent acquisition (DDA) resulted in higher rates (19-62%) of correct structural annotations among reference chemicals in all matrices except wastewaters, compared to data-independent acquisition (DIA, 19-50%). However, DIA resulted in higher MS2 detection rates (59-84% DIA, 37-82% DDA), leading to higher true positive rates for spectral library matching, 40-73% compared to 34-72%. DDA resulted in higher MS2Tox toxicity prediction accuracy than DIA, with root-mean-square errors of 0.62 and 0.71 log-mM, respectively. Given the importance of MS2 spectral quality, we introduce a "CombinedConfidence" score to convey relative confidence in MS2Tox predictions and apply this approach to prioritize potentially ecotoxic nontargeted features in environmental waters.

2.
Environ Sci Technol ; 58(37): 16302-16315, 2024 Sep 17.
Article in English | MEDLINE | ID: mdl-39236221

ABSTRACT

Chemical exposomes can now be comprehensively measured in human blood, but knowledge of their variability and longitudinal stability is required for robust application in cohort studies. Here, we applied high-resolution chemical exposomics to plasma of 46 adults, each sampled 6 times over 2 years in a multiomic cohort, resulting in 276 individual exposomes. In addition to quantitative analysis of 83 priority target analytes, we discovered and semiquantified substances that have rarely or never been reported in humans, including personal care products, pesticide transformation products, and polymer additives. Hierarchical cluster analysis for 519 confidently annotated substances revealed unique and distinctive coexposures, including clustered pesticides, poly(ethylene glycols), chlorinated phenols, or natural substances from tea and coffee; interactive heatmaps were publicly deposited to support open exploration of the complex (meta)data. Intraclass correlation coefficients (ICC) for all annotated substances demonstrated the relatively low stability of the exposome compared to that of proteome, microbiome, and endogenous small molecules. Implications are that the chemical exposome must be measured more frequently than other omics in longitudinal studies and four longitudinal exposure types are defined that can be considered in study design. In this small cohort, mixed-effect models nevertheless revealed significant associations between testosterone and perfluoroalkyl substances, demonstrating great potential for longitudinal exposomics in precision health research.


Subject(s)
Exposome , Humans , Cohort Studies , Longitudinal Studies , Environmental Exposure , Male , Adult , Female
3.
Environ Int ; 192: 108991, 2024 Aug 30.
Article in English | MEDLINE | ID: mdl-39299052

ABSTRACT

Chemical risk assessments typically focus on single substances, often overlooking real-world co-exposures to chemical mixtures. Mixture toxicology studies using representative mixtures can reveal potential chemical interactions, but these do not account for the unique chemical profiles that occur in the blood of diverse individuals. Here we used the H295R steroidogenesis assay to screen personalized mixtures of 24 persistent organic pollutants (POPs) for cytotoxicity and endocrine disruption. Each mixture was reconstructed at a human exposure relevant concentration (1×), as well as at 10- and 100-fold higher concentration (10×, 100×) by acoustic liquid handling based on measured blood concentrations in a Swedish cohort. Among the twelve mixtures tested, nine mixtures decreased the cell viability by 4-18%, primarily at the highest concentration. While the median and maximum mixtures based on the whole study population induced no measurable effects on steroidogenesis at any concentration, the personalized mixture from an individual with the lowest total POPs concentration was the only mixture that affected estradiol synthesis (35% increase at the 100× concentration). Mixtures reconstructed from blood levels of three different individuals stimulated testosterone synthesis at the 1× (11-15%) and 10× concentrations (12-16%), but not at the 100× concentration. This proof-of-principle personalized toxicity study illustrates that population-based representative chemical mixtures may not adequately account for the toxicological risks posed to individuals. It highlights the importance of testing a range of real-world mixtures at relevant concentrations to explore potential interactions and non-monotonic effects. Further toxicological studies of personalized contaminant mixtures could improve chemical risk assessment and advance the understanding of human health, as chemical exposome data become increasingly available.

4.
Eur J Pediatr Surg ; 2024 Sep 09.
Article in English | MEDLINE | ID: mdl-39251202

ABSTRACT

INTRODUCTION: Management of testicular torsion varies between specialties resulting in lack of standardization. The aim of this survey was to assess pre-, peri-, and postoperative differences. METHODS: An online questionnaire was distributed in 2023 to general and pediatric surgeons, pediatric urologists, and urologists by the Trainees of European Pediatric Surgery. MAIN RESULTS: Among 88 respondents (92% tertiary referral hospital), 38% always or usually perform sonography in case of suspected torsion respectively. In addition, 15% always attempt manual detorsion and 44% depending on the clinical presentation. Most surgeons (93%) favor a scrotal approach. Interestingly, pediatric surgeons choose a transscrotal while other specialties opt for a midline incision (p = 0.002). The majority (57%) employ a three-point fixation, while 42% opt for a two-point fixation. In case of necrotic testis, 61% puncture the testis with 52% opting for surgical removal, while 33% perform orchiectomy and 6% leave it in situ. Regarding necrotic or borderline-appearing testis, 54% take a biopsy. Furthermore, 82% perform prophylactic orchidopexy of the contralateral side during the same session. Postoperative antibiotics are always administered by 12%, while 52% do so sometimes. Most perform sonographic (58%) or clinical (57%) follow-up 3 months postoperatively. Notably, pediatric surgeons and urologists perform follow-up more frequently themselves, while general surgeons/urologists recommend follow-up by pediatricians (p = 0.002). In addition, 76% of responders affirm adhering to European Association of Urology guidelines. Unawareness of guidelines and institutional practices are reasons most commonly cited for nonadherence. CONCLUSION: Our study reveals significant disparities in the pre-, peri-, and postoperative management of testicular torsion underscoring the need for establishing standardized practices.

5.
Neurosurg Focus ; 57(2): E10, 2024 08 01.
Article in English | MEDLINE | ID: mdl-39088865

ABSTRACT

OBJECTIVE: The pediatric neurosurgical community has increasingly recognized the importance of healthcare transition, the process of moving a patient from a pediatric to an adult model of care. However, surveys of pediatric neurosurgeons have revealed that few institutions have formal transition programs. Here, the authors share their preliminary experience with the development of a formal transition pilot program for patients with spina bifida and/or hydrocephalus. METHODS: Patients 18 years of age or older with a diagnosis of spina bifida and/or hydrocephalus who were followed by a pediatric neurosurgeon at Connecticut Children's from January 2017 to December 2023 and were recommended to transition to an adult neurosurgeon were retrospectively reviewed. Patients in the informal transition program (ITP) cohort (i.e., the recommendation to transition was made before the formal transition program [FTP] was developed in early 2020) were compared with those in the FTP cohort. RESULTS: Twenty-two patients met inclusion criteria with 7 (31.8%) in the ITP cohort and 15 (68.2%) in the FTP cohort. The median age at the time of the recommendation to transition was similar in both ITP and FTP cohorts (24 [IQR 20-35] years vs 25 [IQR 24-27] years, respectively). Four (57.1%) patients in the ITP cohort had a confirmed visit with an adult neurosurgeon, compared with 13 (86.7%) patients in the FTP cohort (p = 0.274). One patient in the ITP cohort with a failed transition returned to pediatric neurosurgical care, and 1 patient in the FTP cohort required a shunt revision by an adult neurosurgeon within 1 year of the recommendation to transition. CONCLUSIONS: Healthcare transition is recognized as a priority within pediatric neurosurgery, but structured, formal transition programs remain underdeveloped. The authors' preliminary experience with a pilot transition program demonstrated that patients who underwent a formal transition were more likely to successfully establish care with an adult neurosurgeon and trended toward less resource utilization.


Subject(s)
Hydrocephalus , Spinal Dysraphism , Humans , Spinal Dysraphism/surgery , Spinal Dysraphism/complications , Hydrocephalus/surgery , Pilot Projects , Male , Female , Retrospective Studies , Young Adult , Adolescent , Adult , Transition to Adult Care/trends , Neurosurgery/methods , Neurosurgical Procedures/methods , Child , Neurosurgeons
6.
Epigenomes ; 8(3)2024 Aug 10.
Article in English | MEDLINE | ID: mdl-39189257

ABSTRACT

We examined whether prenatal exposure to two classes of endocrine-disrupting chemicals (EDCs) was associated with infant epigenetic age acceleration (EAA), a DNA methylation biomarker of aging. Participants included 224 maternal-infant pairs from a Canadian pregnancy cohort study. Two bisphenols and 12 phthalate metabolites were measured in maternal second trimester urines. Buccal epithelial cell cheek swabs were collected from 3 month old infants and DNA methylation was profiled using the Infinium MethylationEPIC BeadChip. The Pediatric-Buccal-Epigenetic tool was used to estimate EAA. Sex-stratified robust regressions examined individual chemical associations with EAA, and Bayesian kernel machine regression (BKMR) examined chemical mixture effects. Adjusted robust models showed that in female infants, prenatal exposure to total bisphenol A (BPA) was positively associated with EAA (B = 0.72, 95% CI: 0.21, 1.24), and multiple phthalate metabolites were inversely associated with EAA (Bs from -0.36 to -0.66, 95% CIs from -1.28 to -0.02). BKMR showed that prenatal BPA was the most important chemical in the mixture and was positively associated with EAA in both sexes. No overall chemical mixture effects or male-specific associations were noted. These findings indicate that prenatal EDC exposures are associated with sex-specific deviations in biological aging, which may have lasting implications for child health and development.

7.
Cell Biol Toxicol ; 40(1): 69, 2024 Aug 13.
Article in English | MEDLINE | ID: mdl-39136868

ABSTRACT

Many persistent organic pollutants (POPs) are suspected endocrine disruptors and it is important to investigate their effects at low concentrations relevant to human exposure. Here, the OECD test guideline #456 steroidogenesis assay was downscaled to a 96-well microplate format to screen 24 POPs for their effects on viability, and testosterone and estradiol synthesis using the human adrenocortical cell line H295R. The compounds (six polyfluoroalkyl substances, five organochlorine pesticides, ten polychlorinated biphenyls and three polybrominated diphenyl ethers) were tested at human-relevant levels (1 nM to 10 µM). Increased estradiol synthesis, above the OECD guideline threshold of 1.5-fold solvent control, was shown after exposure to 10 µM PCB-156 (153%) and PCB-180 (196%). Interestingly, the base hormone synthesis varied depending on the cell batch. An alternative data analysis using a linear mixed-effects model that include multiple independent experiments and considers batch-dependent variation was therefore applied. This approach revealed small but statistically significant effects on estradiol or testosterone synthesis for 17 compounds. Increased testosterone levels were demonstrated even at 1 nM for PCB-74 (18%), PCB-99 (29%), PCB-118 (16%), PCB-138 (19%), PCB-180 (22%), and PBDE-153 (21%). The MTT assay revealed significant effects on cell viability after exposure to 1 nM of perfluoroundecanoic acid (12%), 3 nM PBDE-153 (9%), and 10 µM of PCB-156 (6%). This shows that some POPs can interfere with endocrine signaling at concentrations found in human blood, highlighting the need for further investigation into the toxicological mechanisms of POPs and their mixtures at low concentrations relevant to human exposure.


Subject(s)
Cell Survival , Endocrine Disruptors , Persistent Organic Pollutants , Polychlorinated Biphenyls , Testosterone , Humans , Testosterone/biosynthesis , Testosterone/metabolism , Persistent Organic Pollutants/metabolism , Endocrine Disruptors/toxicity , Endocrine Disruptors/pharmacology , Cell Survival/drug effects , Polychlorinated Biphenyls/toxicity , Halogenated Diphenyl Ethers/toxicity , Estradiol/metabolism , Estrogens , Cell Line , Pesticides/toxicity , Hydrocarbons, Chlorinated/toxicity
8.
J Craniofac Surg ; 2024 Aug 26.
Article in English | MEDLINE | ID: mdl-39186061

ABSTRACT

Osteomas are benign bony lesions that can occur throughout the craniofacial skeleton. Surgical excision can be an effective treatment, as recurrence is relatively uncommon. Outside of incomplete resection, causes of recurrence are poorly documented, especially in the pediatric population. Exchange cranioplasty is an autologous reconstructive surgical option for patients of all ages, and it can be effective in the treatment of large calvarial osteomas. Recurrent lesions of the cranioplasty site have not been well described in the literature, with only 3 documented reports. In this study, we present a unique case of a recurrent osteoma at the site of a prior exchange cranioplasty. The authors also provide a systematic review of the literature for recurrent osteomas and highlight causes and conclusions for these lesions. Utilizing the PRISMA guidelines, a systematic review of articles published across databases was performed to identify accounts of recurrent osteomas at prior cranioplasty sites. Our systematic review illustrates that recurrent osteomas overlying different cranioplasty biomaterials is a rare entity and is due to incomplete resection of the galea and periosteum during the index procedure. Biomaterial selection for the pediatric population requires careful consideration before reconstruction. Though limited by 3 articles previously published and without a direct link to recurrence, long-term studies are needed to further guide biomaterial selection in the pediatric population to evaluate potential recurrences.

9.
NMR Biomed ; : e5245, 2024 Aug 26.
Article in English | MEDLINE | ID: mdl-39187938

ABSTRACT

Conventional B 0 $$ {B}_0 $$ gradient systems have several weaknesses including high cost and bulk. As a step towards addressing these while providing new degrees of freedom for spatial encoding and system design in Magnetic Resonance Imaging (MRI), a radio frequency (RF) gradient encoding system and pulse sequence for phase encoding using the Bloch-Siegert (BS) shift were developed. Optimized BS spatial encoding coils with bucking windings (counter-wound loops) were designed and constructed, along with compatible homogeneous imaging coils for excitation and signal reception. Two coil systems were developed: one for phantom imaging and a second for human wrist imaging. BS phase-encoded imaging and BS RF pulse simulations were performed. Pulse sequences were designed for linear stepping in k-space and implemented on a 47.5-mT scanner to image resolution phantoms in both coil setups. Reconstructions were performed using both the full B 1 + $$ {B}_1^{+} $$ -based encoding fields for each BS pulse amplitude and using inverse discrete Fourier transforms. A B 0 $$ {B}_0 $$ gradient was used for frequency encoding during signal readout, and the third axis was projected. Specific absorption ratio (SAR) calculations were performed for the wrist coil to determine the safety of BS-based RF encoding for B 0 $$ {B}_0 $$ fields in the low field MRI regime. The optimized RF spatial encoding coils resulted in higher linearity ( R 2 = 0.9981 $$ {R}^2=0.9981 $$ and 0.9921 in the phantom and wrist coils, respectively) than coils used in previous work. The phantom and wrist imaging coils were validated in simulations and experimentally to produce a peak B 1 + = 1.35 $$ {B}_1^{+}=1.35 $$ G and 0.8 G with 12-W input power, respectively, in the field-of-view (length = 11 cm) used for imaging. Nominal imaging resolutions of 5.22 and 7.21 mm were, respectively, achieved by the two-coil systems in the RF phase-encoded dimension. Coil systems, pulse sequences, and image reconstructions were developed for linear RF phase encoding using the BS shift and validated using a 47.5-mT open low field scanner, establishing a key component required for B 0 $$ {B}_0 $$  gradient-free imaging at low B 0 $$ {B}_0 $$  field strengths.

10.
J Adv Nurs ; 2024 Aug 11.
Article in English | MEDLINE | ID: mdl-39129238

ABSTRACT

AIM: To explore the perceptions and experiences of midwives caring for couples who experience a stillbirth. DESIGN: Qualitative study based on Gadamer's hermeneutic phenomenology. METHODS: This study was conducted with midwives (n = 18) at the birth unit of a third-level public hospital in Jaén (Spain) in 2023. Personal semi-structured interviews were recorded in audio for later transcription by two researchers following steps described by Fleming. RESULTS: Two themes were identified as important aspects of the practise of midwives in a situation of the birth of a stillborn child: (1) the importance of each action of the midwife, and (2) the availability of resources determines the care provided. CONCLUSIONS: Having a stillbirth is a very complex experience, in which the psychological support and human and material resources involved are the basic tool for the care of these families. Acknowledging limitations of the available resources, the assistance and care provided by midwives are in line with the clinical practice guidelines, which can have an emotional impact on them. IMPLICATIONS FOR THE PROFESSION AND/OR PATIENT CARE: The care to be provided in stillbirth requires appropriate human and material resources for these families. Midwifery and nursing professionals are in a unique position for acting in cases of families with a stillbirth, updated protocols and, in general, the coordination of the different agents involved within the healthcare system. WHAT PROBLEM DID THE STUDY ADDRESS?: The midwives´ experiences in cases which end with the delivery of a stillborn. WHAT WERE THE MAIN FINDINGS?: Each action of the midwife is as important as the availability of resources to offer the most appropriate care. WHERE AND ON WHOM WILL THE RESEARCH HAVE AN IMPACT?: In each woman who receives the care of a midwife who attends the birth of a stillborn. REPORTING METHOD: COREQ checklist. PATIENT OR PUBLIC CONTRIBUTION: No patient or public contribution occurred for this study as this research focused on exploring staffs' perspectives from the specific viewpoint of their personal experience.

11.
Environ Sci Technol ; 58(29): 12784-12822, 2024 Jul 23.
Article in English | MEDLINE | ID: mdl-38984754

ABSTRACT

In the modern "omics" era, measurement of the human exposome is a critical missing link between genetic drivers and disease outcomes. High-resolution mass spectrometry (HRMS), routinely used in proteomics and metabolomics, has emerged as a leading technology to broadly profile chemical exposure agents and related biomolecules for accurate mass measurement, high sensitivity, rapid data acquisition, and increased resolution of chemical space. Non-targeted approaches are increasingly accessible, supporting a shift from conventional hypothesis-driven, quantitation-centric targeted analyses toward data-driven, hypothesis-generating chemical exposome-wide profiling. However, HRMS-based exposomics encounters unique challenges. New analytical and computational infrastructures are needed to expand the analysis coverage through streamlined, scalable, and harmonized workflows and data pipelines that permit longitudinal chemical exposome tracking, retrospective validation, and multi-omics integration for meaningful health-oriented inferences. In this article, we survey the literature on state-of-the-art HRMS-based technologies, review current analytical workflows and informatic pipelines, and provide an up-to-date reference on exposomic approaches for chemists, toxicologists, epidemiologists, care providers, and stakeholders in health sciences and medicine. We propose efforts to benchmark fit-for-purpose platforms for expanding coverage of chemical space, including gas/liquid chromatography-HRMS (GC-HRMS and LC-HRMS), and discuss opportunities, challenges, and strategies to advance the burgeoning field of the exposome.


Subject(s)
Mass Spectrometry , Humans , Mass Spectrometry/methods , Exposome , Metabolomics , Proteomics/methods , Environmental Exposure
12.
Environ Sci Technol ; 58(31): 13737-13747, 2024 Aug 06.
Article in English | MEDLINE | ID: mdl-39047178

ABSTRACT

A model was developed to conduct techno-economic analysis (TEA) and life cycle assessment (LCA) for reactive carbon capture (RCC) and conversion of carbon dioxide (CO2) to methanol. This RCC process is compared to a baseline commercialized flue gas CO2 hydrogenation process. An ASPEN model was combined with existing TEA and LCA models into a larger TEA/LCA framework in Python. From preliminary experimental data, the model found a levelized cost of $0.79/kg methanol for the baseline process and $0.99/kg for the RCC process. The cradle-to-gate carbon intensity of the baseline process was 0.50 kg-CO2e/kg-methanol, compared to 0.55 kg-CO2e/kg-methanol for the RCC process. However, water consumption for RCC (10.21 kg-H2O/kg-methanol) is greatly reduced compared to the baseline (12.89 kg-H2O/kg-methanol). Future improvements in hydrogen electrolysis costs will benefit the RCC. A target H2/methanol mass ratio of 0.26 was developed for RCC laboratory experiments to reduce methanol cost below the baseline. If a ratio of 0.24 can be achieved, a levelized cost of $0.76/kg methanol is projected, with a carbon intensity of 0.42 kg-CO2e/kg-methanol.


Subject(s)
Carbon Dioxide , Carbon , Methanol , Temperature , Pressure
13.
J Vasc Interv Radiol ; 35(10): 1481-1490, 2024 Oct.
Article in English | MEDLINE | ID: mdl-38942284

ABSTRACT

PURPOSE: To determine the degree of renal function deterioration after renal cryoablation in patients with a solitary functioning kidney on the basis of ablation volume. MATERIALS AND METHODS: Over a 15-year period, 81 percutaneous cryoablations were performed in solitary functioning kidneys. After exclusion of patients with baseline end-stage renal disease (ESRD) and insufficient follow-up, analysis was performed on 65 procedures in 52 patients (40 men; mean age, 63.5 years). The postcryoablation renal function was based on the lowest serum creatinine within 6 months after procedure. Renal function change was defined as percentage glomerular filtration rate (GFR) change. Volumetric analysis was performed on the target lesion, renal parenchyma, and ablation zone. RESULTS: The median tumor diameter was 2.0 cm (range, 0.8-4.7 cm). The median baseline GFR decreased from 56.4 mL/min/1.73 m2 (range, 17.5-89.7 mL/min/1.73 m2) to 46.9 mL/min/1.73 m2 (range, 16.5-89.7 mL/min/1.73 m2) at median of 95 days (P < .001), equating to a -7.9% median renal function change (range, -45.0% to +30.7%). All patients had Stage 2 or worse chronic kidney disease, and baseline function did not correlate with renal function change. The median volume of ablated parenchyma was 19.7 mL (range, 2.4-87.3 mL), equating to 8.1% (range, 0.7%-37.2%) of total parenchyma. The volume of parenchymal volume ablated correlated significantly with renal function loss, whereas age, hypertension, and diabetes mellitus did not. No patient developed ESRD within 1 year after cryoablation. CONCLUSIONS: Cryoablation in solitary functioning kidneys resulted in a modest reduction in renal function, even in patients with chronic kidney disease and ablations of up to 20% of renal parenchymal volume.


Subject(s)
Cryosurgery , Glomerular Filtration Rate , Kidney Neoplasms , Solitary Kidney , Tumor Burden , Humans , Cryosurgery/adverse effects , Male , Female , Middle Aged , Aged , Treatment Outcome , Kidney Neoplasms/surgery , Kidney Neoplasms/pathology , Kidney Neoplasms/physiopathology , Solitary Kidney/physiopathology , Time Factors , Retrospective Studies , Kidney/physiopathology , Risk Factors , Adult , Aged, 80 and over , Creatinine/blood , Biomarkers/blood
14.
J Clin Med ; 13(11)2024 May 31.
Article in English | MEDLINE | ID: mdl-38892969

ABSTRACT

Background: the benefits of water are significant during the birth process. Improved maternal experience of labor, less use of epidurals, better pain management, shorter labor, and a greater sense of control are observed during the birth process. Objective: This report aims to determine the benefits of hydrotherapy in clinical childbirth approaches and its applicability in pain control. Methods: A meta-analysis of randomized clinical trials selected from various databases with no publication date limits was conducted, comparing groups that did not use hydrotherapy with groups that did during labor. Results: Seven articles met the inclusion criteria, with five articles using hot water immersion and two using hot water shower as hydrotherapy treatments. This study identified 840 participants, with the intervention groups including 417 term pregnant women and the control groups including 423 pregnant women. The effect size of hydrotherapy on pain was calculated using the visual analog scale in five articles and analgesic use in the other two articles. Hydrotherapy significantly reduced pain during labor with a mean difference of -0.97 (95% CI: -1.91 to -0.03; I2 = 97.32%, p < 0.001). The duration of the first stage of labor was not significantly affected, with a mean difference of -0.17 h (95% CI: -0.55 to 0.21; I2 = 56.75%, p = 0.059). Additionally, hydrotherapy did not significantly impact the newborns' Apgar scores at 5 min, with a mean difference of 0.18 (95% CI: -0.48 to 0.85; I2 = 2.15%, p = 0.939). Conclusions: Hydrotherapy is beneficial for pain control in the first stage of labor and does not increase its duration or negatively affect the Apgar score of newborns.

15.
J Pers Med ; 14(6)2024 May 26.
Article in English | MEDLINE | ID: mdl-38929791

ABSTRACT

INTRODUCTION: Pain perception, far from being a pathological mechanism, is a crucial protective stimulus to prevent additional injuries. Any disturbance in this complex system poses significant risks to individuals, affecting their quality of life and even their survival. OBJECTIVE: This review aims to explore congenital insensitivity to pain, an extremely rare genetic disorder with an autosomal recessive pattern that results in the inability to perceive pain. We will focus on the well-known subtype, congenital insensitivity to pain with anhidrosis (CIPA). Our research seeks to update existing knowledge through a comprehensive literature review. METHODOLOGY: The review employs a systematic literature review, analyzing various sources and scientific documents, primarily emphasizing CIPA. The review follows the PROSPERO protocol, registered under CRD42023394489. The literature search was performed on the Scopus, PubMed, and Cinahl databases. RESULTS: Our review reveals secondary complications associated with CIPA, such as recurrent bone fractures, temperature insensitivity, self-mutilation, and, occasionally, intellectual disabilities. The limited available information underscores the need for expanding our knowledge. CONCLUSIONS: In summary, CIPA, particularly, presents a significant medical challenge with adverse impacts on quality of life. Early diagnosis, education for families and healthcare professionals, and appropriate nursing care are essential for effective management. This review highlights the necessity of further research and awareness to enhance support for those affected.

16.
J Clin Med ; 13(12)2024 Jun 15.
Article in English | MEDLINE | ID: mdl-38930046

ABSTRACT

Hydrotherapy, including the use of therapeutic showers and bathtubs, has been studied for its potential benefits in labor pain management. Previous research has indicated that hydrotherapy can alleviate pain, but comparative studies between therapeutic showers and bathtubs are scarce. Objective: This study aims to compare the effects of therapeutic showers and bathtubs on pain perception, labor duration, use of epidural analgesia, and maternal and neonatal outcomes during labor. Methods: A total of 124 pregnant women were included in this study. Participants were divided into two groups: those who used a therapeutic shower and those who used a bathtub during labor. Pain levels were measured using a visual analog scale (VAS). Labor duration, use of epidural analgesia, types of delivery, maternal outcomes (postpartum hemorrhage, perineal status, maternal hypotension, fever, and breastfeeding), and neonatal outcomes (APGAR scores, fetal heart rate, complications, and neonatal unit admissions) were recorded and analyzed. Results: Both the therapeutic shower and the bathtub effectively reduced pain perception, with the bathtub showing a greater reduction in VAS scores. The therapeutic shower group experienced a significantly shorter labor duration compared to the bathtub group. The majority of participants in both groups did not require epidural analgesia, with no significant differences between the groups. There were no significant differences in the types of delivery. Maternal outcomes indicated a lower incidence of perineal tears and episiotomies in the therapeutic shower group. Neonatal outcomes, including APGAR scores and fetal heart rate, were similar between the groups, with no significant differences in complications or neonatal unit admissions. Conclusions: Both therapeutic showers and bathtubs are effective for pain relief during labor, with the bathtub showing a higher reduction in pain intensity. The therapeutic shower is associated with a shorter labor duration and a lower incidence of perineal tears and episiotomies. Both methods are safe for neonatal well-being, making hydrotherapy a viable non-pharmacological option for pain management in labor. However, the therapeutic shower may offer additional benefits in terms of labor duration and maternal outcomes.

17.
Bioengineering (Basel) ; 11(6)2024 Jun 18.
Article in English | MEDLINE | ID: mdl-38927858

ABSTRACT

Physical inactivity represents a significant public health challenge globally. Mobile applications, particularly those utilizing augmented reality (AR), have emerged as innovative tools for promoting physical activity. However, a systematic evaluation of their efficacy is essential. This systematic review aims to evaluate and synthesize the evidence regarding the effectiveness and benefits of mobile applications with augmented reality in enhancing physical activity and improving health outcomes. A comprehensive search was conducted in Scopus, PubMed, WOS, and the Cochrane Library databases following PRISMA guidelines. Observational and interventional studies evaluating AR mobile applications for physical exercise were included, without restrictions on publication date or language. The search terms included "Mobile Applications", "Augmented Reality", "Physical Fitness", "Exercise Therapy", and "Health Behavior". The methodological quality was assessed using the ROBINS tool. The review identified twelve eligible studies encompassing 5,534,661 participants. The findings indicated significant increases in physical activity and improvements in mental health associated with the use of AR applications, such as Pokémon GO. However, potential risk behaviors were also noted. The evidence suggests that AR interventions can effectively promote physical activity and enhance health. Nonetheless, further research is needed to address limitations and optimize their efficacy. Future interventions should be tailored to diverse cultural contexts to maximize benefits and mitigate risks. AR mobile applications hold promise for promoting physical activity and improving health outcomes. Strategies to optimize their effectiveness and address identified risks should be explored to fully realize their potential.

18.
Environ Res ; 257: 119276, 2024 Sep 15.
Article in English | MEDLINE | ID: mdl-38830392

ABSTRACT

BACKGROUND: Bisphenols and phthalates are two classes of endocrine-disrupting chemicals (EDCs) thought to influence weight and adiposity. Limited research has investigated their influence on maternal weight changes, and no prior work has examined maternal fat mass. We examined the associations between exposure to these chemicals during pregnancy and multiple maternal weight and fat mass outcomes. METHODS: This study included a sample of 318 women enrolled in a Canadian prospective pregnancy cohort. Second trimester urinary concentrations of 2 bisphenols and 12 phthalate metabolites were quantified. Self-reported and measured maternal weights and measured skinfold thicknesses were used to calculate gestational weight gain, 3-months and 3- to 5-years postpartum weight retention, late pregnancy fat mass gain, total postpartum fat mass loss, and late postpartum fat mass retention. Adjusted robust regressions examined associations between chemicals and outcomes in the entire study population and sub-groups stratified by pre-pregnancy body mass index (BMI). Bayesian kernel machine regression examined chemical mixture effects. RESULTS: Among women with underweight or normal pre-pregnancy BMIs, MBzP was negatively associated with weight retention at 3- to 5-years postpartum (B = -0.04, 95%CI: -0.07, -0.01). Among women with overweight or obese pre-pregnancy BMIs, MEHP and MMP were positively associated with weight retention at 3-months and 3- to 5-years postpartum, respectively (B's = 0.12 to 0.63, 95%CIs: 0.02, 1.07). DEHP metabolites and MCNP were positively associated with late pregnancy fat mass gain and late postpartum fat mass retention (B's = 0.04 to 0.18, 95%CIs: 0.001, 0.32). Further, the mixture of EDCs was positively associated with late pregnancy fat mass gain. CONCLUSION: In this cohort, pre-pregnancy BMI was a key determinant of the associations between second trimester exposure to bisphenols and phthalates and maternal weight changes and fat accumulation. Investigations of underlying physiological mechanisms, windows of susceptibility, and impacts on maternal and infant health are needed.


Subject(s)
Benzhydryl Compounds , Body Mass Index , Phenols , Phthalic Acids , Humans , Female , Phenols/urine , Phenols/adverse effects , Phthalic Acids/urine , Pregnancy , Adult , Benzhydryl Compounds/urine , Benzhydryl Compounds/adverse effects , Prospective Studies , Maternal Exposure/adverse effects , Environmental Pollutants/urine , Endocrine Disruptors/urine , Young Adult , Adiposity/drug effects , Canada
19.
Proc Natl Acad Sci U S A ; 121(27): e2311807121, 2024 Jul 02.
Article in English | MEDLINE | ID: mdl-38913893

ABSTRACT

Machine learning has been proposed as an alternative to theoretical modeling when dealing with complex problems in biological physics. However, in this perspective, we argue that a more successful approach is a proper combination of these two methodologies. We discuss how ideas coming from physical modeling neuronal processing led to early formulations of computational neural networks, e.g., Hopfield networks. We then show how modern learning approaches like Potts models, Boltzmann machines, and the transformer architecture are related to each other, specifically, through a shared energy representation. We summarize recent efforts to establish these connections and provide examples on how each of these formulations integrating physical modeling and machine learning have been successful in tackling recent problems in biomolecular structure, dynamics, function, evolution, and design. Instances include protein structure prediction; improvement in computational complexity and accuracy of molecular dynamics simulations; better inference of the effects of mutations in proteins leading to improved evolutionary modeling and finally how machine learning is revolutionizing protein engineering and design. Going beyond naturally existing protein sequences, a connection to protein design is discussed where synthetic sequences are able to fold to naturally occurring motifs driven by a model rooted in physical principles. We show that this model is "learnable" and propose its future use in the generation of unique sequences that can fold into a target structure.


Subject(s)
Machine Learning , Neural Networks, Computer , Proteins , Proteins/chemistry , Proteins/metabolism , Protein Engineering/methods , Molecular Dynamics Simulation
20.
Acad Radiol ; 31(8): 3464-3470, 2024 Aug.
Article in English | MEDLINE | ID: mdl-38862348

ABSTRACT

RATIONALE AND OBJECTIVES: Near-peer paradigms have been demonstrated effective in supporting how students navigate novel clinical environments. In this study, we describe an innovative model of incorporating teaching assistants (TAs) into a core radiology clerkship and investigate both its perceived educational value by clinical-year learners and its perceived impact on professional growth by TAs. MATERIALS AND METHODS: At one U.S. medical school, the core clinical year includes a clerkship in radiology incorporating both reading room exposure and a didactic curriculum. Radiology faculty deliver a variety of traditional and interactive, "dynamic" lectures, while medical student TAs deliver additional dynamic sessions, including a final TA-created review session. The educational value of each didactic session by clerkship students was assessed using a five-point scale survey, and the professional value of the experience by TAs was assessed using a five-point Likert survey. RESULTS: Spanning from 2020 to 2023, 268 (74.4%) clinical-year students submitted the post-clerkship survey, with the didactic review sessions created and led by TAs receiving the highest ratings of any didactic session. Of 16 former TAs, 12 (75%) completed the post-service survey, with all respondents agreeing or strongly agreeing that they enjoyed and would recommend their experience, and that it enhanced their interest in radiology and in academic medicine. CONCLUSION: Near-peer education in a core radiology clerkship enhances the experience of the learner through peer guidance and the experience of the teacher through professional development. These findings may increase student interest in pursuing academic radiology as a career and invite opportunities for broadening medical school education in radiology.


Subject(s)
Clinical Clerkship , Curriculum , Peer Group , Radiology , Students, Medical , Radiology/education , Humans , Education, Medical, Undergraduate/methods , Surveys and Questionnaires , Schools, Medical , Teaching , United States
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