Your browser doesn't support javascript.
loading
Show: 20 | 50 | 100
Results 1 - 20 de 54.471
Filter
1.
Rev. Flum. Odontol. (Online) ; 1(66): 1-11, jan-abr.2025. tab, ilus
Article in English | LILACS, BBO - Dentistry | ID: biblio-1570439

ABSTRACT

Introduction: This case report presents the intentional periodontal maintenance of two periodontal hopeless lower central incisors with a multidisciplinary approach and 20-year follow-up. Case presentation: A 36-year-old male, in 2001, was diagnosed with aggressive periodontitis, gingival swelling, bleeding, and mandibular central incisors with mobility and poor prognosis. Following periodontal therapy (phase I), root canal treatment, and occlusal adjustment, #31 and #41 were gently extracted to remove the granulation tissues, calculus, and infected cementum from the root surface. Then, tetracycline-HCl was applied for 5 minutes on the root surfaces. The teeth were repositioned into the sockets and splinted with a lingual bar. At 3 months, the bar was removed, and a free gingival autogenous graft was done to improve the local keratinized tissue width. Mobility scores, pocket depths, and clinical attachment levels were recorded, and radiographs were taken at 1, 5, and 20 years. The 5-year follow-up showed that the teeth were clinically and radiographically in function. There was a reduction in probing depth and a gain in clinical attachment and radiographic alveolar bone levels. After 20 years, #41 was stable, but #31 had external root resorption, leading to a new treatment plan (dental implants) and extraction. Conclusion: The clinical result of this case was satisfactory for 20 years. Intentional periodontal maintenance of the teeth may be an alternative treatment, even considering the high level of complexity.


Subject(s)
Humans , Male , Adult , Patient Care Planning , Periodontics , Surgical Procedures, Operative , Time , Periodontal Attachment Loss
2.
J Environ Sci (China) ; 149: 465-475, 2025 Mar.
Article in English | MEDLINE | ID: mdl-39181659

ABSTRACT

VOCs (Volatile organic compounds) exert a vital role in ozone and secondary organic aerosol production, necessitating investigations into their concentration, chemical characteristics, and source apportionment for the effective implementation of measures aimed at preventing and controlling atmospheric pollution. From July to October 2020, online monitoring was conducted in the main urban area of Shijiazhuang to collect data on VOCs and analyze their concentrations and reactivity. Additionally, the PMF (positive matrix factorization) method was utilized to identify the VOCs sources. Results indicated that the TVOCs (total VOCs) concentration was (96.7 ± 63.4 µg/m3), with alkanes exhibiting the highest concentration of (36.1 ± 26.4 µg/m3), followed by OVOCs (16.4 ± 14.4 µg/m3). The key active components were alkenes and aromatics, among which xylene, propylene, toluene, propionaldehyde, acetaldehyde, ethylene, and styrene played crucial roles as reactive species. The sources derived from PMF analysis encompassed vehicle emissions, solvent and coating sources, combustion sources, industrial emissions sources, as well as plant sources, the contribution of which were 37.80%, 27.93%, 16.57%, 15.24%, and 2.46%, respectively. Hence, reducing vehicular exhaust emissions and encouraging neighboring industries to adopt low-volatile organic solvents and coatings should be prioritized to mitigate VOCs levels.


Subject(s)
Air Pollutants , Environmental Monitoring , Volatile Organic Compounds , Volatile Organic Compounds/analysis , Air Pollutants/analysis , China , Vehicle Emissions/analysis , Cities , Air Pollution/statistics & numerical data , Air Pollution/prevention & control , Air Pollution/analysis
3.
Food Chem ; 462: 140987, 2025 Jan 01.
Article in English | MEDLINE | ID: mdl-39217748

ABSTRACT

This study aimed to investigate the textural changes of cooked germinated brown rice (GBR) during freeze-thaw treatment and propose a strategy for enhancing its texture using magnetic field (MF). Seven freeze-thaw cycles exhibited more pronounced effects compared to 7 days of freezing, resulting in increases in GBR hardness by 85.59 %-164.36 % and decreases in stickiness by 10.34 %-43.55 %. Water loss, structural damage of GBR flour, and starch retrogradation contributed to the deterioration of texture. MF mitigated these effects by inhibiting the transformation of bound water into free water, reducing water loss by 0.39 %-0.57 %, and shortening the phase transition period by 2.0-21.5 min, thereby diminishing structural damage to GBR flour and hindering starch retrogradation. Following MF treatment (5 mT), GBR hardness decreased by 21.00 %, while stickiness increased by 45.71 %. This study elucidates the mechanisms through which MF enhances the texture, offering theoretical insights for the industrial production of high-quality frozen rice products.


Subject(s)
Cooking , Freezing , Germination , Magnetic Fields , Oryza , Oryza/chemistry , Oryza/growth & development , Oryza/metabolism , Flour/analysis , Starch/chemistry , Starch/metabolism , Water/chemistry , Hardness , Food Handling , Seeds/chemistry , Seeds/growth & development
4.
Article in English | MEDLINE | ID: mdl-39306077

ABSTRACT

Syphilis has significantly increased its incidence in Europe and North America in the past 20 years. Although rare, sudden hearing loss might be a complication of syphilis infection. We present two cases of otosyphilis seen in our hospitals and review of the English and Spanish literature already published since 2000.

5.
Neurohospitalist ; 14(4): 454-456, 2024 Oct.
Article in English | MEDLINE | ID: mdl-39308459

ABSTRACT

Superficial siderosis (SS) is an infrequent condition characterized by hemosiderin deposition in the central nervous system, resulting from chronic subarachnoid hemorrhage, often linked to dural mater diseases. Through a case report of a 50-year-old male with severe sensorineural hearing loss and newly diagnosed epilepsy, we explore SS triggered by a spinal ependymoma, diagnosed via resonance magnetic imaging (MRI). This case highlights the necessity of comprehensive neuroaxis imaging to identify treatable etiologies. The complexity of SS, with its varied clinical presentations, necessitates early detection and a multidisciplinary treatment approach. Despite limited treatment options and the uncertain efficacy of therapies like deferiprone, early intervention is crucial for mitigating irreversible neurological damage and enhancing patient prognosis.

6.
Article in English | MEDLINE | ID: mdl-39311938

ABSTRACT

BACKGROUND: Reliability and validity of the Paprosky classification for acetabular bone loss have been debated. Additionally, the relationship between surgeon training level and Paprosky classification accuracy/treatment selection is poorly defined. This study aimed to: (1) evaluate the validity of preoperative Paprosky classification/treatment selection compared to intraoperative classification/treatment selection and (2) evaluate the relationship between training level and intra-rater and inter-rater reliability of preoperative classification and treatment choice. METHODS: Seventy-four patients with intraoperative Paprosky types [I (N = 24), II (N = 27), III (N = 23)] were selected. Six raters (Residents (N = 2), Fellows (N = 2), Attendings (N = 2)) independently provided Paprosky classification and treatment using preoperative radiographs. Graders reviewed images twice, 14 days apart. Cohen's Kappa was calculated for (1) inter-rater agreement of Paprosky classification/treatment by training level (2), intra-rater reliability, (3) preoperative and intraoperative classification agreement, and (4) preoperative treatment selection and actual treatment performed. RESULTS: Inter-rater agreement between raters of the same training level was moderate (K range = 0.42-0.50), and mostly poor for treatment selection (K range = 0.02-0.44). Intra-rater agreement ranged from fair to good (K range = 0.40-0.73). Agreement between preoperative and intraoperative classifications was fair (K range = 0.25-0.36). Agreement between preoperative treatment selections and actual treatments was fair (K range = 0.21-0.39). CONCLUSION: Inter-rater reliability of Paprosky classification was poor to moderate for all training levels. Preoperative Paprosky classification showed fair agreement with intraoperative Paprosky grading. Treatment selections based on preoperative radiographs had fair agreement with actual treatments. Further research should investigate the role of advanced imaging and alternative classifications in evaluation of acetabular bone loss.

7.
Molecules ; 29(17)2024 Aug 30.
Article in English | MEDLINE | ID: mdl-39274966

ABSTRACT

In the present work, we report an update and extension of the previous ion-pair formation study of Hubers, M.M.; Los, J. Chem. Phys.1975, 10, 235-259, noting new fragment anions from time-of-flight mass spectrometry. The branching ratios obtained from the negative ions formed in K + SF6 collisions, in a wide energy range from 10.7 up to 213.1 eV in the centre-of-mass frame, show that the main anion is assigned to SF5- and contributing to more than 70% of the total ion yield, followed by the non-dissociated parent anion SF6- and F-. Other less intense anions amounting to <20% are assigned to SF3- and F2-, while a trace contribution at 32u is tentatively assigned to S- formation, although the rather complex intramolecular energy redistribution within the temporary negative ion is formed during the collision. An energy loss spectrum of potassium cation post-collision is recorded showing features that have been assigned with the help of theoretical calculations. Quantum chemical calculations for the lowest-lying unoccupied molecular orbitals in the presence of a potassium atom are performed to support the experimental findings. Apart from the role of the different resonances participating in the formation of different anions, the role of higher-lying electronic-excited states of Rydberg character are noted.

8.
J Int Soc Sports Nutr ; 21(1): 2405159, 2024 Dec.
Article in English | MEDLINE | ID: mdl-39287144

ABSTRACT

BACKGROUND: This study was conducted to investigate the nutritional knowledge of elite athletes undergoing weight loss and to identify differences in weight-loss strategies according to nutritional knowledge. METHODS: The participants included 22 coaches and 88 elite athletes registered under the same affiliation. The survey involved translating the General Nutrition Knowledge Questionnaire (GNKQ), and interviews were used to confirm the diet and weight loss patterns of the athletes. The coaches and athletes were divided into high-rank (12 coaches and 57 athletes) and low-rank (10 coaches and 31 athletes) groups based on GNKQ scores. Paired t-tests, correlation analysis, and logistic regression analysis were performed. RESULTS: GNKQ results showed significant differences between high-ranking and low-ranking coaches (p < 0.001). Furthermore, a significant difference in nutrition knowledge scores was also noticed between athletes with high-ranking and low-ranking coaches (p < 0.001). A strong correlation was observed between the GNKQ scores of coaches and athletes (r = 0.369; p < 0.001). The nutritional knowledge of coaches was also correlated with weight-loss strategies (weight loss attempt frequency; r = -0.235; p = 0.027; weight loss duration; r = -0.268; p = 0.012). Additionally, differences were observed in the intake of all nutrients (carbohydrates, proteins, and fat) in the diets of athletes (p < 0.001). CONCLUSION: Our study suggests that the nutritional knowledge of coaches indirectly affects athletes. Coaches have significant influence over athletes and possess experience with diet and weight-loss patterns. This insight should be effectively utilized to enhance the training and performance of athletes and coaches.


Subject(s)
Athletes , Health Knowledge, Attitudes, Practice , Weight Loss , Humans , Male , Adult , Female , Surveys and Questionnaires , Sports Nutritional Physiological Phenomena , Diet , Young Adult , Mentoring , Sports Nutritional Sciences/education , Sports/physiology
9.
Sci Total Environ ; 954: 176287, 2024 Sep 15.
Article in English | MEDLINE | ID: mdl-39288877

ABSTRACT

Denitrification plays a pivotal role in nitrogen (N) cycling in rice paddies, significantly impacting N loss and greenhouse gas emissions. Accurate quantification of net N2 emissions from paddy fields is therefore essential for improving fertilizer N use efficiency. However, challenges in directly measuring gaseous N2 hinder our understanding of microbially-mediated N loss in paddy soils at large scales. In this study, we investigated net N2 loss and its influencing factors in 45 paddy soils across China using membrane inlet mass spectrometry and N2/Ar technique, complemented by microbial community analysis via metagenomics. Potential N2 loss rates varied from 0.41 to 3.58 nmol N g-1 h-1, with no significant regional differences. However, soils from rice-upland rotation (1.72 ± 0.64 nmol N g-1 h-1) and mono-rice cropping systems (1.41 ± 0.53 nmol N g-1 h-1) exhibited higher N2 loss rates compared to double-rice cropping soils (1.13 ± 0.62 nmol N g-1 h-1). Our results revealed a unimodal relationship between soil N2 loss rates and soil pH, with N2O reducers and soil properties primarily regulating regional variations in N2 loss. Significant ecological differentiation was observed within both nosZ Clade I and Clade II, with soil pH emerging as the key factor shaping their community composition. Specifically, in rice-upland rotations, soil moisture and pH significantly influenced nosZ Clade I, while in double-rice cropping systems, soil texture and pH were the main factors affecting nosZ Clade II, thereby driving N2 loss. These findings enhance our understanding of N2 loss dynamics in paddy soil ecosystems, underscoring the critical role of N2O reducers on microbial-derived N2 loss and highlighting the importance of developing strategies to mitigate N2O emissions by balancing N2 loss through the manipulation of N2O-reducing and N2O-producing microbes.

10.
Cell Biol Toxicol ; 40(1): 79, 2024 Sep 18.
Article in English | MEDLINE | ID: mdl-39289208

ABSTRACT

Noise-induced hidden hearing loss (HHL) is a newly uncovered form of hearing impairment that causes hidden damage to the cochlea. Patients with HHL do not have significant abnormalities in their hearing thresholds, but they experience impaired speech recognition in noisy environments. However, the mechanisms underlying HHL remain unclear. In this study, we developed single-cell transcriptome profiles of the cochlea of mice with HHL, detailing changes in individual cell types. Our study revealed a transient threshold shift, reduced auditory brainstem response wave I amplitude, and decreased number of ribbon synapses in HHL mice. Our findings suggest elevated oxidative stress and GDF15 expression in cochlear hair cells of HHL mice. Notably, the upregulation of GDF15 attenuated oxidative stress and auditory impairment in the cochlea of HHL mice. This suggests that a therapeutic strategy targeting GDF15 may be efficacious against HHL.


Subject(s)
Growth Differentiation Factor 15 , Hearing Loss, Noise-Induced , Oxidative Stress , Growth Differentiation Factor 15/metabolism , Growth Differentiation Factor 15/genetics , Animals , Hearing Loss, Noise-Induced/metabolism , Mice , Cochlea/metabolism , Cochlea/pathology , Hair Cells, Auditory/metabolism , Hair Cells, Auditory/pathology , Male , Mice, Inbred C57BL , Evoked Potentials, Auditory, Brain Stem , Noise/adverse effects , Transcriptome/genetics , Disease Models, Animal , Hearing Loss, Hidden
11.
Front Pharmacol ; 15: 1467298, 2024.
Article in English | MEDLINE | ID: mdl-39295926

ABSTRACT

Objective: Although guidelines support the efficacy of Modified Qing' E Formula (MQEF) in treating postmenopausal osteoporosis (PMOP), its underlying mechanisms remain incompletely understood. This retrospective investigation aims to elucidate MQEF's impact on serum exosomal miRNA expression in postmenopausal osteoporosis patients and to explore potential therapeutic mechanisms. Methods: Following ethical approval and registration, postmenopausal osteoporosis patients aged 50-85 years, meeting the diagnostic criteria were randomly selected and received MQEF decoction supplementary therapy. Serum samples were collected pre- and post-treatment, followed by isolation and sequencing of exosomal miRNAs. Differential miRNAs in serum exosomes were identified, and bioinformatics analysis was conducted to discern the principal exosomal miRNAs involved in MQEF's effects on PMOP and the associated signaling pathways. Results: Eighteen clinical blood samples were collected. A total of 282,185 target genes were detected across the three groups. 306 miRNAs exhibited altered expression in serum exosomes of PMOP patients, while MQEF intervention resulted in changes in 328 miRNAs. GO enrichment analysis revealed the immune and endocrine systems was pertained. KEGG enrichment analysis indicated associations between PMOP occurrence and MQEF treatment with cytokine interactions, oxidative phosphorylation, and the renin-angiotensin system. Intersectional analysis identified 17 miRNAs, including 2 consistent trends. miR-3188 as a potentially pivotal miRNA implicated in both PMOP occurrence and MQEF treatment. Conclusion: This study constitutes the first randomized, retrospective clinical exploration confirming that MQEF demonstrates regulatory influence over exosomal miRNA expression in PMOP patients' serum, its impact likely involves modulation of the immune and endocrine systems, as well as the renin-angiotensin system.

12.
Heliyon ; 10(17): e36717, 2024 Sep 15.
Article in English | MEDLINE | ID: mdl-39296067

ABSTRACT

Background: Autosomal recessive non-syndromic deafness-28 (DFNB28; OMIM #609823) specifically refers to prelingual sensorineural hearing loss (SNHL) resulting from homozygous or compound heterozygous mutations in the TRIO- and F-actin-binding protein, TRIOBP gene. In this report, we present a pediatric patient exhibiting novel compound heterozygous deleterious variants in the TRIOBP gene. Methods: The auditory brainstem response result revealed both left- and right-sided deafness with a threshold of 20 dB normal hearing level in the proband. A comprehensive trio whole exome sequencing (WES) using the Celemics G-Mendeliome Whole Exome Sequencing Panel was employed. Results: The WES analysis revealed compound heterozygous TRIOBP variants in the proband, namely c.1192_1195delCAACinsT/p.Gln398* classified as pathogenic and c.3661C > T/p.Arg1221Trp categorized as a variant of uncertain significance according to American College of Medical Genetics and Genomics guidelines. These variants are considered the most probable cause of the proband's SNHL. Conclusion: TRIOBP isoforms are predominantly expressed in the inner ear, contributing to the formation of stereocilia rootlets. Further investigations are required to fully understand the phenotypic variability and establish the pathogenicity of the identified variant in relation to the TRIOBP gene and SNHL.

13.
Front Neurol ; 15: 1442715, 2024.
Article in English | MEDLINE | ID: mdl-39296958

ABSTRACT

Background and objectives: As the population of U.S. service members (SMs) who have sustained concussions and more severe traumatic brain injuries (TBIs) during military service ages, understanding the long-term outcomes associated with such injuries will provide critical information that may promote long-term assessment, support, and rehabilitation following military service. The objective of this research was to examine whether concussion and more severe TBIs are associated with greater risk of precursors to dementia (i.e., mild cognitive impairment, memory loss), early-onset dementia, and any dementia. Methods: This study used a retrospective cohort design wherein archival medical and career records from 1980 to 2020 identified U.S. military personnel who retired from military service and their corresponding Tricare-reimbursable medical encounters in inpatient and/or outpatient settings in military treatment facilities and/or purchased care settings both before and after retirement. All military personnel who served on active duty between 1980 and 2020 and were at least 45 years of age by 2020 were eligible for inclusion (N = 6,092,432). Those who were discharged from military service with a retirement designation, and were thus eligible for Tricare for Life, were included in the analytic sample (N = 1,211,972). Diagnoses of concussion and more severe TBI during active duty service recorded in inpatient settings between 1980 and 2020 and in outpatient settings from 2001 to 2020 were identified. Focal outcomes of interest included memory loss, mild cognitive impairment, Alzheimer's, Lewy Body dementia, frontotemporal dementia, and vascular dementia. Dementia diagnoses before age 65 were labeled early-onset. Results: Those with (vs. without) concussion diagnoses during military service were significantly more likely to be diagnosed with memory loss and mild cognitive impairment and any of the dementias examined. However, they were not at greater risk of being diagnosed with early-onset dementia. Discussion: Military SMs diagnosed with concussion may be at elevated risk for long-term neurodegenerative outcomes including memory loss, mild cognitive impairment, and dementia. As the population of SMs who sustained TBI during the Global War on Terror continue to age, the prevalence of dementia will increase and may bring a unique burden to the VHA.

14.
Front Neurol ; 15: 1415068, 2024.
Article in English | MEDLINE | ID: mdl-39296959

ABSTRACT

Introduction: Sudden sensorineural hearing loss (SSNHL) is an otological emergency that requires prompt recognition and intervention to prevent devastating impacts on people's lives. During the COVID-19 pandemic, sensory deprivations have been reported in patients positive for SARS-CoV-2 virus, including deleterious effects on the auditory pathway. This study aims to describe the audiological profile of individuals with SSNHL during the COVID-19 pandemic and to correlate hearing recovery in subgroups of individuals with or without COVID-19. Methods: Prospective cohort including patients diagnosed with SSNHL evaluated in a tertiary care center between March 2020 and September 2022. Hearing loss was confirmed with pure-tone and speech audiometry, with Speech Recognition Threshold (SRT) and word recognition score (WRS). Audiometric testing was performed at the moment of diagnosis, then 7, 30 and 120 days after diagnosis. The average degree of hearing loss was assessed by calculating the 4-frequency pure tone average (4fPTA). The investigation of COVID-19 included RT-PCR technique for the SARS-CoV-2 virus and collection of information regarding disease severity. A statistical analysis was performed using an analysis of covariance (ANCOVA) model to compare the 4fPTA between the four groups (with and without a history of COVID-19, unilateral and bilateral cases) at the end of the follow-up period. Results: Fifty-two patients with SSNHL were assessed, 40 (76.9%) with unilateral and 12 (23.1%) with bilateral hearing loss, totaling 64 ears included. Of those, 15 (28.8%) patients tested positive for SARS-CoV-2 and were symptomatic for COVID-19. Of all unilateral cases, 22.5% were seropositive and showed symptoms of COVID-19, a number that increased to 50% for bilateral cases. Comparing the COVID-19 positive groups, individuals with unilateral SSNHL went from 40 dB as their average 4fPTA at onset to 20 dB as their average 4fPTA after 120 days, whereas those with bilateral SSNHL went from an initial average of 60 dB to a final average of 66 dB. Although the 4fPTA value of individuals with unilateral SSNHL improved in 7 days, the mean values showed no significant difference between positive and negative groups. There was a higher incidence of bilateral simultaneous SSNHL in patients who had not been vaccinated against COVID-19 and who presented with symptoms of severe COVID-19. Conclusion: Infection with SARS-CoV-2 resulted in more severe SSNHL, in bilateral SSNHL, and in poorer recovery from SSNHL in bilateral cases. Bilateral SSNHL was seen more frequently in patients who had not received vaccination against COVID-19.

15.
Reprod Biomed Online ; 49(6): 104363, 2024 Jul 08.
Article in English | MEDLINE | ID: mdl-39299134

ABSTRACT

RESEARCH QUESTION: As Sjögren's syndrome is an autoimmune disease and an essential factor in recurrent pregnancy loss (RPL), are there gene-related relationships between the pathogenesis of Sjögren's syndrome and RPL? DESIGN: The gene datasets for Sjögren's syndrome and RPL were obtained from the Gene Expression Omnibus database, and the co-expression modules and shared differentially expressed genes were identified through weighted gene co-expression network analysis (WGCNA) and limma analysis based on sample size. Gene Ontology and the Kyoto Encyclopedia of Genes and Genomes analyses were applied to reveal the hidden biological pathways. Additionally, shared hub gene identification, gene set enrichment analysis, association of the hub gene with ferroptosis and immunity, drug sensitivity analysis, single-cell RNA sequencing analysis, and construction of the competing endogenous RNA (ceRNA) network were conducted. RESULTS: By intersecting the genes from WGCNA and limma analysis, one shared hub gene (KCNN3) was derived, exhibiting up-regulation in Sjögren's syndrome and RPL. There was a positive relationship between KCNN3 and the immune-related gene TLR2. The ceRNA network revealed that XIST was the most shared long non-coding RNA, which may bind competitively with eight microRNA to regulate the expression of KCNN3. Forty-eight drugs were found to be strongly associated with KCNN3 expression, including estramustine and cyclosporine. Moreover, KCNN3 exhibited high expression in RPL endothelial cells of villous tissue. CONCLUSIONS: This is one of the first studies to reveal that Sjögren's syndrome shares common biological pathways with RPL. KCNN3 was identified as the hub gene associated with Sjögren's syndrome and RPL, and may be a new target for mechanistic studies on Sjögren's syndrome and RPL.

16.
Prostaglandins Leukot Essent Fatty Acids ; 203: 102641, 2024 Sep 11.
Article in English | MEDLINE | ID: mdl-39299174

ABSTRACT

Mice fed a diet containing an adequate amount of ω-3 fatty acids (ω-3 Adq) or a deficient diet (ω-3 Def) were irradiated with ultraviolet-B (UV-B) and were measured daily changes in transepidermal water loss (TEWL). TEWL was significantly increased in ω-3 Def mice with repeated UV-B irradiation, but this increase was significantly reduced in ω-3 Adq mice. The epidermal layers revealed thickening of the spinous and basal layers induced by UV-B irradiation in both groups. Moreover, the ω-3 Def mice had a disturbed epidermal structure and a coarser stratum corneum. And the granule cell layer is significantly reduced, and abnormal layer formation (parakeratosis) occurred in the stratum corneum. These results suggest that continuous UV-B irradiation promotes epidermal turnover and leads to epidermal thickening, but ω-3 fatty acids protect the body from UV-B-induced stress.

17.
Am J Hum Genet ; 2024 Sep 11.
Article in English | MEDLINE | ID: mdl-39299239

ABSTRACT

Hereditary hemorrhagic telangiectasia (HHT) is an inherited disorder of vascular malformations characterized by mucocutaneous telangiectases and arteriovenous malformations (AVMs) in internal organs. HHT is caused by inheritance of a loss of function mutation in one of three genes. Although individuals with HHT are haploinsufficient for one of these genes throughout their entire body, rather than exhibiting a systemic vascular phenotype, vascular malformations occur as focal lesions in discrete anatomic locations. The inconsistency between genotype and phenotype has provoked debate over whether haploinsufficiency or a different mechanism gives rise to the vascular malformations. We previously showed that HHT-associated skin telangiectases develop by a two-hit mutation mechanism in an HHT gene. However, somatic mutations were identified in only half of the telangiectases, raising the question whether a second-hit somatic mutation is a necessary (required) event in HHT pathogenesis. Here, we show that another mechanism for the second hit is loss of heterozygosity across the chromosome bearing the germline mutation. Secondly, we investigate the two-hit mutation mechanism for internal organ AVMs, the source of much of the morbidity of HHT. Here, we identified somatic molecular genetic events in eight liver telangiectases, including point mutations and a loss of heterozygosity event. We also identified somatic mutations in one pulmonary AVM and two brain AVMs, confirming that mucocutaneous and internal organ vascular malformations undergo the same molecular mechanisms. Together, these data argue that bi-allelic loss of function in an HHT gene is a required event in the pathogenesis of HHT-associated vascular malformations.

18.
Contemp Clin Trials ; : 107698, 2024 Sep 17.
Article in English | MEDLINE | ID: mdl-39299543

ABSTRACT

BACKGROUND: Caloric restriction prolongs lifespan in model organisms and improves metrics of aging-related diseases in humans, but daily compliance is challenging. Intermittent fasting improves metrics of lipid and glucose metabolism in the setting of weight loss but whether these metrics are improved independent of weight loss is not known. METHODS: We seek to address this gap with IFAST, a single-center, three-arm, prospective, randomized, controlled clinical trial. Eligible study participants are adults with no chronic medical conditions beyond prediabetes or overweight but who are at high risk for type 2 diabetes mellitus (T2D), defined as having a history of gestational diabetes or a first-degree relative with T2D. Participants will be randomized in a 1:2:2 schema to either a control group, a fasting group, or a fasting/weight maintenance group. The fasting groups will complete a 24-h fast one day per week for 12 weeks. The key mechanistic endpoint is change in triglyceride composition (defined by carbon content and degree of saturation) as measured by longitudinal metabolomics. The key safety endpoint is percent change from baseline in trabecular bone volume at the radius in the fasting group. Secondary endpoints include measures of insulin sensitivity (hyperinsulinemic-euglycemic clamp), clinical lipid profiling, systemic inflammation markers, hunger assessment, bone density, and bone microarchitecture with high-resolution peripheral quantitative CT. CONCLUSION: IFAST will investigate intrinsic metabolic benefits of intermittent fasting beyond weight loss. TRIAL REGISTRATION: ClinicalTrials.gov ID NCT05722873.

19.
Aesthetic Plast Surg ; 2024 Sep 19.
Article in English | MEDLINE | ID: mdl-39299938

ABSTRACT

BACKGROUND: Breast deformity following massive weight loss poses a unique challenge inadequately managed by traditional methods. Patients also have considerable lateral and posterior upper trunk tissue surplus. Multiple studies have used chest wall flaps for auto-augmentation with mastopexy to tackle this problem. However, the outcome measures did not include any objective tools to assess the reliability of these flaps. Hence, in this study sono-mammography and breast anthropometric measurements are used for evaluation of the added volume and long-term sustainability of chest wall perforator flaps. METHODOLOGY: Twenty massive weight loss patients with Pittsburgh Rating Scale score 2-3 underwent mastopexy with autologous augmentation through perforator flaps encompassing lateral chest wall skin. Outcome measures were breast volume, and the presence of fat necrosis on mammography, and direct breast anthropometry. CONCLUSION: All patients showed a consistent increase in volume postoperatively and no fat necrosis in postoperative mammography, reflecting flap reliability over one year of follow-up. All postoperative anthropometric measurements showed improvement in the breast deformities addressed. LEVEL OF EVIDENCE IV: This journal requires that authors assign a level of evidence to each article. For a full description of these Evidence-Based Medicine ratings, please refer to the Table of Contents or the online Instructions to Authors   www.springer.com/00266 .

20.
Arch Gynecol Obstet ; 2024 Sep 20.
Article in English | MEDLINE | ID: mdl-39299978

ABSTRACT

PURPOSE: To investigate sleep duration and sleep loss during antenatal period and assess associative factors, including maternal characteristic and mood symptoms. METHODS: A cohort of 3038 women was enrolled. Self-reported sleep duration and sleep loss, the latter being calculated from preferred sleep need and actual sleep duration, were measured in early, mid- and late pregnancy, and at delivery. The associations with age, BMI, parity, education, smoking, napping, and depressive and anxiety symptoms were evaluated. RESULTS: Sleep duration was longest in early pregnancy and shortest at delivery (7.93 h-7.76 h, p < 0.001). The proportion of short sleepers (< 6 h) increased from 1.4% to 5.9% throughout the studied period (p < 0.001). Mean sleep loss remained stable in early- and mid-pregnancy, lowering in late pregnancy (p < 0.001) and increasing again until delivery (p = 0.003). The number of women with notable sleep loss (> 2 h) was similar during the first three measurement points (9.4%, 8.9% and 9.5%), but increased until delivery (14.1%, p < 0.001). Older, multiparous, and more-depressive women slept less (p < 0.001, p < 0.001, p = 0.017). Women with higher BMI were more likely to sleep < 6 h in late pregnancy (p = 0.012). Multiparous, more-depressive, and higher-BMI women reported more sleep loss (p < 0.001, p < 0.001, p = 0.049). CONCLUSION: We confirmed earlier reported decrease in sleep duration at the end of pregnancy. As a novel finding, we showed a notable increase in sleep loss during the last month of pregnancy. Various factors were associated with both short sleep and sleep loss, especially multiparity, napping and depressive symptoms.

SELECTION OF CITATIONS
SEARCH DETAIL