Ehlers-Danlos Research Articles

Comparing the Effectiveness of Platelet-Rich Plasma Alone Versus Combined With Microneedles or Radiofrequency for Neck Wrinkle Treatment.

Neck wrinkles are a prominent characteristic of skin aging, with recent studies indicating that interventions such as platelet-rich plasma (PRP), microneedling (MN), and radiofrequency (RF) can effectively rejuvenate aging skin. This study aims to assess and compare the efficacy of three treatment modalities in addressing neck wrinkles. Fifteen female participants with a neck Lemperle Wrinkle Assessment Scale (WAS) score of 3-4 were enrolled in a randomized clinical trial. The subjects were randomly assigned to three treatment groups: PRP injection, MN + PRP topical PRP application, and RF + PRP injection. They received treatment once a month for three consecutive months, and a clinical outcome evaluation was performed at 1 and 6 months after the final treatment. The WAS scores and global aesthetic improvement score (GAIS) demonstrated notable enhancements 1 month postfinal treatment across all three groups, with a notably greater number of participants experiencing improved outcomes in the RF + PRP group 6 months posttreatment. Specifically, at the 1-month follow-up, the RF + PRP group exhibited a statistically significant enhancement in skin elasticity and collagen, surpassing the improvements observed in the other two groups (p < 0.05). No significant disparities in skin elasticity and collagen were detected in all groups prior to and after 6 months of treatment. Adverse events were mild and transient, such as redness, swelling, bruising, and pain. This study revealed that all the treatments can effectively improve neck wrinkles 1 month after the last treatment. A better therapeutic effect could be observed in the RF + PRP group compared with the other two groups at 6 months after the last treatment.

A bizarre case of recurrent hemoptysis and pneumothorax in a young male

Vascular Ehlers–Danlos syndrome (vEDS) is a rare inherited disorder affecting approximately 1 in 150,000 individuals, caused by heterozygous mutations in the COL3A1 gene. Characterized by primary spontaneous pneumothorax and severe connective tissue fragility, vEDS remains poorly understood clinically, making diagnosis challenging. We present the case of a 20-year-old male with a history of mitral valve prolapse, recurrent hemoptysis, knee joint dislocations, and easy bruising. In February 2023, he was admitted to the emergency department following a seizure, syncope, and altered sensorium, which led to an extensive evaluation of his non-specific symptoms. Ultimately, he was diagnosed with vEDS.

A Novel Look at Mechanisms and Applications of Xanthohumol (XN) in Dermatology and Cosmetology

Xanthohumol (XN), representing the group of chalcones, is a hydroxyl and superoxide free radical scavenger. It also has antimicrobial properties, showing antibacterial activity against Staphylococcus aureus, Staphylococcus pyogenes, Staphylococcus epidermidis and Propionibacterium acnes. XN exerts an inhibitory effect on tyrosinase (it hinders the oxidation of l-tyrosine and l-DOPA). However, it also affects the transport of pigment (through a reduction in the number and length of dendrites) and its degradation (through damage to melanosomes). Additionally, it has been shown to inhibit the different activation pathways of the premeditated response in macrophages and reduce the secretion of pro-inflammatory cytokines TNF-α, IL-6 and IL-1β. Xanthohumol also improves skin elasticity by reducing the activity of elastase and MMP 1, 2 and 9, and it increases the expression of type I, III and V collagen, as well as elastin and fibrillins in skin fibroblasts. It acts against the main factors contributing to the pathogenesis of acne by inhibiting pro-inflammatory mediators (e.g., COX-2, PGE2, IL-1β and TNF-α). Moreover, it shows antibacterial activity against P. acnes and S. aureus, as well as seboregulatory and antioxidant properties. It has also been recognized that XN intake could affect diabetic wound healing. XN shows antitumoral activity, e.g., in the case of skin melanoma, which is associated with the antioxidant, pro-apoptotic, anti-angiogenic and immunostimulating effects of this compound.

Echocardiographic Assessment in Patients with Vascular Ehlers-Danlos Syndrome: Insights from an Unexplored Field.

Vascular Ehlers-Danlos syndrome (vEDS) is an inherited connective tissue disorder characterized by arterial fragility. Celiprolol is a β1-adrenoceptor antagonist with partial β2 agonist activity that has been shown to reduce rates of vascular events in this setting, though the underlying mechanisms are not yet fully understood. Moreover, very few echocardiographic data are available in patients with vEDS. To perform a comprehensive echocardiographic assessment of a cohort of patients with vEDS with or without celiprolol therapy compared with healthy subjects. Twenty patients with genetically confirmed diagnosis of vEDS followed at our Institution (University Hospital of Brescia, Italy) were divided into two groups according to whether or not they were on celiprolol therapy at the maximum recommended dose (400mg daily) for at least 12 months. Both groups were compared to 10 healthy individuals matched for sex, age, body mass index (BMI), and office blood pressure (BP) values. Each participant underwent transthoracic echocardiography with tissue Doppler analysis (TDI) for a comprehensive evaluation of cardiac structure and function. Mean age was 35 years and mean BMI was 21.6 kg/m2. Female sex was prevalent (60%). Left ventricular (LV) internal diameter values tended to be lower in patients with untreated vEDS than in healthy controls (4.33 vs 4.74cm, respectively), though this difference was not statistically significant. Similar data were observed for LV mass index (56.9 vs 68.6 g/m2), stroke volume (56.6 vs 71.6 mL), and E/A ratio (1.26 vs 1.66), whereas an opposite trend was observed for e' lateral (13.2 vs 12.2cm/s). No statistically significant difference was found between groups in terms of other parameters of LV mass, systolic and diastolic function. A normal LV geometry was found in all the cases. Indices of mechano-energetic efficiency and ventricular-arterial coupling were also similar between groups. No patient presented with aortic root dilation, mitral valve prolapse, valve insufficiency of more than mild degree, or valve stenosis of any degree. Our study suggests that patients with vEDS have normal cardiac mass and geometry, as well as normal systolic and diastolic function. Celiprolol therapy does not seem to significantly influence such aspects. Compared with vascular imaging, less stringent follow-up with echocardiography seems reasonable in this setting. Future studies with prospective design should confirm these aspects.

The Complexity of Familial Inheritance in Pectus Excavatum: A Ten-Family Exome Sequencing Analysis

Background/Objectives: Pectus excavatum (PEx) is considered, at least partially, a familial disorder. A variety of inheritance patterns, associations with genetic syndromes, and pathogenic variants have been reported. However, the etiology of this condition is still not completely understood, and no known genes have been identified as definitive contributors. Methods: Family members with a confirmed PEx diagnosis (one proband and two first-degree relatives) and non-affected members were recruited into this study. Exome sequencing was performed on all affected familial PEx cases to systematically screen for candidate genes that are likely to be causative for PEx, and on non-affected family members for variant segregation analysis. Results: Ten families, with three affected members each, participated, providing thirty familial PEx cases. Different inheritance patterns were represented across the ten pedigrees, with possible incomplete penetrance. Genetic variants in REST (essential for neuronal development and associated with pectus deformities in prior studies), SMAD4 (variants can predispose individuals to thoracic aortic diseases), and COL5A (associated with Ehlers–Danlos syndrome and Fibromuscular dysplasia) were initially identified as potentially linked to the development of pectus deformities and segregated with the phenotype. No variants were shared across families in the studied population. Conclusions: Germline exome sequencing of families with multiple individuals affected by PEx in our study identified potential gene candidates linked to PEx. These candidates are private to individual families and no strong candidates shared across multiple families were identified. These findings suggest that the inheritance of PEx may not be strongly related to a shared single genetic variant in known genes. Given the accumulating evidence for the genetic basis of familial PEx, further studies, including polygenic analyses, as well as assessment of the non-coding genome and possible epigenetic markers are warranted.

Halobacteria Formula Improvement of Skin Care-A Randomized, Double-Blind, Placebo-Controlled Clinical Study.

Halobacteria trueperi, an extremophilic microorganism thriving in high-salt environments, produces extracellular polysaccharides with potential anti-inflammatory and anti-aging properties. However, its clinical efficacy in skin improvement remains unclear. This study focuses on H. trueperi TCI66207, isolated from the Pacific Ocean at a depth of 662 m near Hualien, and its potential to enhance skin parameters, aiming to develop a novel functional formulation for pharmaceutical and cosmetic use. This sudy aims to evaluate the clinical efficacy of H. trueperi TCI66207 on various skin parameters and its potential for developing new functional cosmetic formulations. A total of 40 subjects were recruited and randomly divided into two groups: the test group applied a serum containing H. trueperi TCI66207, while the placebo group used a basic serum. Subjects were instructed to apply the serum twice daily for 4 weeks. Skin parameters, including moisture, brightness, elasticity, pigmentation (spots and UV spots), texture, wrinkles, pores, and collagen density, were assessed before and after the 4-week application period. After 4 weeks of using the H. trueperi TCI66207 serum, significant improvements were observed in all measured skin parameters compared to baseline, with notable enhancements in moisture, brightness, elasticity, texture, and collagen density, along with reductions in wrinkles, spots, and pore size. Halobacteria trueperi TCI66207 serum demonstrates a clear ability to improve skin conditions and delay signs of aging, making it a promising candidate for the development of new cosmetic formulations with potent anti-aging and skin-rejuvenating properties.

Elucidating the roles of SOD3 correlated genes and reactive oxygen species in rare human diseases using a bioinformatic-ontology approach.

Superoxide Dismutase 3 (SOD3) scavenges extracellular superoxide giving a hydrogen peroxide metabolite. Both Reactive Oxygen Species diffuse through aquaporins causing oxidative stress and biomolecular damage. SOD3 is differentially expressed in cancer and this research utilises Gene Expression Omnibus data series GSE2109 with 2,158 cancer samples. Genome-wide expression correlation analysis was conducted with SOD3 as the seed gene. Categorical SOD3 Pearson Correlation gene lists incrementing in correlation strength by 0.01 from ρ≥|0.34| to ρ≥|0.41| were extracted from the data. Positively and negatively SOD3 correlated genes were separated for each list and checked for significance against disease overlapping genes in the ClinVar and Orphanet databases via Enrichr. Disease causal genes were added to the relevant gene list and checked against Gene Ontology, Phenotype Ontology, and Elsevier Pathways via Enrichr before the significant ontologies containing causal and non-overlapping genes were reviewed with a literature search for possible disease and oxidative stress associations. 12 significant individually discriminated disorders were identified: Autosomal Dominant Cutis Laxa (p = 6.05x10-7), Renal Tubular Dysgenesis of Genetic Origin (p = 6.05x10-7), Lethal Arteriopathy Syndrome due to Fibulin-4 Deficiency (p = 6.54x10-9), EMILIN-1-related Connective Tissue Disease (p = 6.54x10-9), Holt-Oram Syndrome (p = 7.72x10-10), Multisystemic Smooth Muscle Dysfunction Syndrome (p = 9.95x10-15), Distal Hereditary Motor Neuropathy type 2 (p = 4.48x10-7), Congenital Glaucoma (p = 5.24x210-9), Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome (p = 3.77x10-16), Classical-like Ehlers-Danlos Syndrome type 1 (p = 3.77x10-16), Retinoblastoma (p = 1.9x10-8), and Lynch Syndrome (p = 5.04x10-9). 35 novel (21 unique) genes across 12 disorders were identified: ADNP, AOC3, CDC42EP2, CHTOP, CNN1, DES, FOXF1, FXR1, HLTF, KCNMB1, MTF2, MYH11, PLN, PNPLA2, REST, SGCA, SORBS1, SYNPO2, TAGLN, WAPL, and ZMYM4. These genes are proffered as potential biomarkers or therapeutic targets for the corresponding rare diseases discussed.

The interleukin-1α stimulated expression of the wrinkle-inducing elastase neprilysin in adult human dermal fibroblasts is mediated via the intracellular signaling axis of ERK/JNK/c-Jun/c-Fos/AP-1.

Neprilysin is a skin wrinkle-inducing membrane bound elastase that is expressed abundantly in UV-exposed and in aged dermal fibroblasts. The overexpression of neprilysin is closely associated with enhanced epithelial-mesenchymal cytokine interactions mainly via interleukin (IL)-1α, which has the distinct potential to stimulate the expression of neprilysin by human dermal fibroblasts (HDFs). The over-expression of neprilysin also accelerates the formation of wrinkles, accompanied by disruptions of the three-dimensional architecture of dermal elastic fibers that are responsible for the loss of skin elasticity. Because the signaling pathway(s) that lead to the IL-1α-stimulated expression of neprilysin in HDFs remain unclear, we characterized the signaling pathway involved, including their related transcription factors, in IL-1α-treated HDFs. Since qRT-PCR analysis revealed that the mRNA expression level of neprilysin is stimulated to a stronger extent in adult HDFs (aHDFs) by IL-1α than in neonatal HDFs, we used aHDFs for the signaling analysis. Western blotting analysis of the phosphorylation of signaling factors revealed that IL-1α significantly stimulated the phosphorylation of ERK1/2, RSK, JNK, p38, MSK1, NFkB, c-Jun, ATF-2, CREB, and STAT3. Analysis using various signaling inhibitors demonstrated that inhibiting ERK and JNK but not p38, MSK1, NFkB, or STAT3 significantly abrogated the IL-1α stimulated expression of neprilysin at the mRNA, protein, and enzyme activity levels. Furthermore, silencing c-Fos significantly down-regulated the IL-1α-increased expression of neprilysin at the protein and enzyme activity levels. These findings strongly suggest that the IL-1α-stimulated expression of neprilysin in aHDFs is mediated via the intracellular signaling axis of ERK/JNK/c-Jun/c-Fos/AP-1.

Wrist Stabilising Exercise Versus Hand Orthotic Intervention for Persons with Hypermobility - A Randomised Clinical Trial.

To investigate the effectiveness of wrist stabilisation exercises compared to conventional intervention, whether it reduces pain and/or paraesthesia in the hand, as well as how the interventions affected activity ability, health-related quality of life and effects on hand function and grip strength in people with Hypermobility Diagnosis. A randomised controlled trial.Setting: Units of Occupational therapy in Primary Care, Kalmar County Council, SwedenParticipants: The study included 169 participants' data randomised to the Exercise group (n = 83) or the Control group (n = 86). The samples consisted of adults in diagnosed Hypermobility Spectrum Disorders or hypermobility Ehlers Danlos Syndrome with symptoms of pain and/or paraesthesia in the hands in the last three years.Interventions: The Exercise group trained according to structured progressive exercises and weights programme. The Control group used the hand orthosis during selected activities. Both groups performed randomised intervention for 12 weeks.Main measures: The primary outcome was the Disabilities of Arm, Shoulder, and Hand questionnaire. Secondary outcomes were the Grip Ability Test, the Jamar dynamometer and the EuroQol EQ-5D. There were 116 subjects who completed the intervention. There were no statistically significant difference between the wrist stabilisation exercise and the conventional intervention in terms of activity ability, health-related quality of life, hand function, grip strength, pain or paraesthesia in people with Hypermobility Spectrum Disorders or hypermobility Ehlers Danlos Syndrome. There is no statistically significant difference between the Exercise group and the Control group regarding activity ability after 12 weeks intervention period.

Marfan syndrome is associated with increased risk for gynecologic disorders and maternal complications.

To determine whether patients with Marfan syndrome are at an increased risk for reproductive disorders. This retrospective cohort study was conducted using the US collaborative network on the TriNetX research network of health care organizations. We included female patients aged 18-44 and identified a cohort of 4347 patients with Marfan syndrome (ICD-10 Q87.4). Our control cohort consisted of 16,424,990 patients without a diagnosis of Marfan syndrome or Ehlers-Danlos syndrome (ICD-10 Q79.6). The primary outcomes included gynecologic diagnoses such as dysmenorrhea and endometriosis, and our secondary outcomes included urogynecologic, fertility, and obstetric outcomes, all identified by ICD-10 codes. We conducted a relative risk analysis with a p-value of <0.05 considered significant. Patients with Marfan syndrome were at an increased risk for pelvic and perineal pain, dysmenorrhea, abnormal uterine bleeding, endometriosis (all p <0.0001), dyspareunia (p =0.0009), leiomyoma (p =0.0076), polyp of female genital tract (p =0.016), urinary incontinence (p <0.0001), female genital prolapse (p =0.0006), fertility testing (p =0.0075), cesarean delivery (p =0.0003), gestational hypertension (p =0.0012), and pre-eclampsia (p =0.0024) compared to the control group following an adjusted, matched comparison. Patients with Marfan syndrome have an increased risk of numerous reproductive disorders and obstetric complications compared to patients without this diagnosis.

Aging-Induced Changes in Cutibacterium acnes and Their Effects on Skin Elasticity and Wrinkle Formation

Skin aging involves biomechanical changes like decreased elasticity, increased wrinkle formation, and altered barrier function. The skin microbiome significantly impacts this process. Here, we investigated the effects of decreased Cutibacterium acnes abundance and increase in other skin microorganisms on skin biomechanical properties in 60 healthy Koreans from Seoul, divided into younger (20–29 years) and older (60–75 years) groups. Metagenomic sequencing and skin assessments showed that the older group exhibited decreased C. acnes dominance and increased microbial diversity, correlating with reduced skin elasticity and increased wrinkles. In the younger age group, the enriched pathways included zeatin biosynthesis, distinct biotin metabolism pathways, and cofactor and vitamin metabolism in the younger age group, whereas pathways related to lipid metabolism, energy metabolism, and responses to environmental stressors, including UV damage and pollution, were enriched in the older group, according to functional analysis results. Network analysis indicated higher microbial connectivity in the younger group, suggesting a more stable community, whereas the older group’s community displayed higher modularity, indicating more independent and specialized clusters. This study enhances our understanding of the impact of skin microbiome changes on skin aging, particularly the anti-aging effects of C. acnes. Future research should focus on the physiological mechanisms of skin microbiota on skin aging and explore therapeutic potentials to enhance skin health.

Radiographic Indicators of Craniocervical Instability: Analyzing Variance of Normative Supine and Upright Imaging in a Healthy Population.

Single-institution retrospective review. To establish baseline ranges and variability of 7 radiographic measurements of the cervical spine in a healthy patient population as potential diagnostic tools for craniocervical instability. Craniocervical instability, common in patients with connective tissue disease such as Ehlers-Danlos Syndrome, often presents with a wide range of symptoms, including neck pain. Current diagnostic methods employ a range of clinical and radiographic features, but diagnostic challenges remain due to missed indications on static imaging and a lack of standardized measurement values and normalized variance. Seventy-two healthy patients with cervical imaging were analyzed. Surgimap software was used to annotate supine computed tomography images, flexion, extension, and neutral x-ray images for measurement. These measurements included the atlanto-dental interval, clival-axial angle, basion-dens interval, basion-axis interval, perpendicular basion to the inferior aspect of C2, also known as Grabb Oakes measurement, and the hard palate to C1 and hard palate to C2. Statistical analysis assessed differences among imaging modalities, and coefficients of variation were calculated for each measurement. Our cohort consisted of a total of 72 patients with a mean age of 64 (SD: 13.54). All measurements except for the basion-axial interval and atlanto-dental interval demonstrated a significant difference between extension and flexion x-ray measurements. clivo-axial angle, hard palate to C1, and hard palate to C2 demonstrated the lowest coefficients of variance across imaging modalities. Understanding normal variance in cervical measurements is invaluable for accurate CCI diagnosis. Using a cohort of healthy patients, this study delineates the distribution and spread of 7 cervical measurements, delineating reference values and variability in these key measurements and highlighting their potential for use as imaging markers for CCI. Level III.

Multiple Arterial Aneurysms Revealing a New Case of Ehlers-Danlos Syndrome

Ehlers-Danlos syndrome (EDS) is a rare genetic disorder transmitted in an autosomal dominant mode. Its progression in young adults is marked by vascular, digestive, and obstetric complications. We report the case of a 24-year-old woman presenting with a mass in the right femoral triangle. Non-invasive imaging revealed multiple staged arterial aneurysms in the lower limbs. The diagnosis of vascular Ehlers-Danlos syndrome was established based on facial dysmorphia, acrogeria, and a history of right humeral aneurysm surgery. The patient underwent surgery for the right femoral aneurysm due to its significant size and risk of rupture, with simple monitoring for the other arterial aneurysms that were discovered incidentally. The postoperative course was uneventful with a favorable outcome.

A diagnosis of vascular ehlers-danlos syndrome in childhood: clinical and molecular features of 63 individuals

Abstract Background Vascular Ehlers-Danlos syndrome (vEDS) is a rare inherited connective tissue disorder characterised by generalised severe tissue friability and predominantly caused by pathogenic COL3A1 variants. Diagnosis of vEDS in childhood primarily occurs due to a positive family history and/or the occurrence of an early arterial or intestinal event. However, little has been reported on additional clinical characteristics and management in this population. Purpose This study aims to identify critical drivers of a childhood vEDS diagnosis in individuals diagnosed through a national EDS service. Methods 63 individuals (24 index, 31 females) with a clinical and genetic diagnosis of vEDS in childhood (&amp;lt; 18 years) were identified through a national EDS service, and childhood cardiovascular surveillance was conducted through joint inherited cardiovascular disease clinics. Results Diagnosis of vEDS in childhood occurred at a median age of 7 years (IQR 3-12) and was predominantly driven by positive family history of vEDS (55.5%). Clinical investigations were directly initiated by occurrence of a major clinical event in n=13 (20.6%), and a total of 17 major clinical events in childhood were recorded in 13 individuals. First events occurred at a median age of 11 years (IQR 0-13) and vascular events, though infrequent, occurred as early as the first year of life. In individuals who did not have a positive family history or major event, easy and/or excessive bruising was the most frequent cause for referral (60%). Conclusions This cohort provides further details of the clinical and genetic characteristics of children with vEDS and contributes new insight into drivers of vEDS diagnosis in childhood and the importance of long-term management, including paediatric cardiovascular surveillance.

Investigating the Skin Health Benefits of Rosa roxburghii, Punica granatum and Rose: A Randomized Single‐Blind Controlled Clinical Trial

ABSTRACTRecent studies underscore the beneficial impacts of oral natural plant extracts on human skin health, though clinical evidence of their efficacy and safety is limited. This study evaluates the skin health effects of a novel oral supplement containing Rosa roxburghii, Punica granatum, and rose extracts (RPR) 0.70 healthy female participants were randomly assigned to either a control group or an RPR group, with the latter ingesting 20 mL of the RPR supplement daily on an empty stomach over 8 weeks. After 8 weeks, the RPR group exhibited significant enhancements (p &lt; 0.001) in skin hydration, glossiness, elasticity, and skin tone, with increases of 69.02%, 30.48%, 25.97%, and 7.52%, respectively. Concurrently, decreases in skin firmness and melanin levels were observed at 21.17% (p = 0.007) and 25.06% (p &lt; 0.001), respectively. Statistical analysis confirmed that these changes were significantly greater than those in the control group. Image analysis indicated no significant changes in mean optical density of hyperpigmented spots within the RPR group (p = 0.367), but a significant reduction in the areas of hyperpigmented spots, under‐eye fine lines, and crow's feet by 41.50%, 37.55%, and 29.36%, respectively (p &lt; 0.001), whereas no significant changes were detected in the control group. Importantly, no adverse effects were observed. These findings suggest that the combined intake of Rosa roxburghii, Punica granatum, and rose extracts can improve skin health, offering a promising natural alternative for dermatological care.

The potential cutaneous benefits of bentonites and montmorillonites.

Bentonites and montmorillonites, natural clay minerals originating from volcanic ash, possess unique properties that have traditionally been utilized in industrial applications. Recently, their potential biomedical applications, particularly in dermatology, have garnered significant interest. This review explores the cutaneous benefits of bentonites and montmorillonites, highlighting their anti-inflammatory, wound-healing, oil-absorbing, drug delivery, photoprotective, and anti-aging effects. Evidence from in vitro experiments, animal studies, and preliminary clinical trials demonstrate that these clays can significantly reduce inflammation, accelerate wound healing, absorb excess oil, enhance drug delivery, protect against ultraviolet radiation, and improve skin hydration and elasticity. Larger scale randomized clinical trials (RCTs) are needed to further establish the safety and efficacy of bentonites and montmorillonites. Given the increasing consumer demand for natural ingredients in skincare, bentonites and montmorillonites present a promising area for further research and development in dermatologic applications.

Clinical Validation of Face-Fit Surface-Lighting Micro Light-Emitting Diode Mask for Skin Anti-Aging Treatment.

Photobiomodulation therapy based on micro light-emitting diodes (µLEDs) holds remarkable potential for the beauty industry. Here, a cosmetically effective face-fit surface-lighting µLED mask for skin anti-aging is introduced. The face-conformable mask enables deep tissue treatment through proximal light irradiation, with a 3D origami structure capable of adapting to complex facial contours with closed adherence. A blister-assisted laser transfer achieves rapid and accurate µLEDs transfer at a high throughput of 50 chips per second, facilitating a mass-producible and large-area process. Finally, clinical trials demonstrate significant improvements in elasticity, sagging, and wrinkles across six facial areas, with a maximum enhancement of 340% in deep skin elasticity of the perioral area compared to the conventional LED mask group.

TRATAMENTO DE GORDURA INFRAORBITAL COM ULTRASSOM MICROFOCADO

Aging is a physiological process determined by various intrinsic and extrinsic factors, being a normal and inevitable process. The periorbital region is one of the first to show signs. This aging in the periorbital region is manifested by several anatomical changes that result in dark circles, wrinkles and sagging skin. These changes are influenced by factors such as the loss of adipose tissue volume and reduced collagen production, in addition to the projection of orbital fat and reduced skin elasticity. Given the significant aesthetic impact of these changes, effective treatment of dark circles has become a priority in aesthetic procedures. This study aimed to present and describe a treatment technique and its results in infraorbital pockets, using the non-invasive method of microfocused ultrasound. Through a case report involving a 50-year-old male patient with complaints of persistent dark circles, a treatment protocol was carried out with microfocused ultrasound using 60 shots per infraorbital region in two sessions, with an interval of 3 months. The evaluation of the results included photographic documentation and facial scanning, which showed a significant improvement in skin firmness and a reduction in infraorbital bags. The work concludes that microfocused ultrasound proved to be effective in treating localized fat and repositioning tissues in the dark circles region, promoting facial rejuvenation and representing a less invasive alternative to blepharoplasty. Results may vary depending on age, skin condition and technique used, in which case additional sessions may be necessary.

Decoding the Genetic Basis of Mast Cell Hypersensitivity and Infection Risk in Hypermobile Ehlers-Danlos Syndrome.

Hypermobile Ehlers-Danlos syndrome (hEDS) is a connective tissue disorder marked by joint hypermobility, skin hyperextensibility, and tissue fragility. Recent studies have linked hEDS with mast cell activation syndrome (MCAS), suggesting a genetic interplay affecting immune regulation and infection susceptibility. This study aims to decode the genetic basis of mast cell hypersensitivity and increased infection risk in hEDS by identifying specific genetic variants associated with these conditions. We conducted whole-genome sequencing (WGS) on 18 hEDS participants and 7 first-degree relatives as controls, focusing on identifying genetic variants associated with mast cell dysregulation. Participants underwent clinical assessments to document hEDS symptoms and mast cell hypersensitivity, with particular attention to past infections and antihistamine response. Our analysis identified specific genetic variants in MT-CYB, HTT, MUC3A, HLA-B and HLA-DRB1, which are implicated in hEDS and MCAS. Protein-protein interaction (PPI) network analysis revealed significant interactions among identified variants, highlighting their involvement in pathways related to antigen processing, mucosal protection, and collagen synthesis. Notably, 61.1% of the hEDS cohort reported recurrent infections compared to 28.5% in controls, and 72.2% had documented mast cell hypersensitivity versus 14.2% in controls. These findings provide a plausible explanation for the complex interplay between connective tissue abnormalities and immune dysregulation in hEDS. The identified genetic variants offer insights into potential therapeutic targets for modulating mast cell activity and improving patient outcomes. Future research should validate these findings in larger cohorts and explore the functional implications of these variants to develop effective treatment strategies for hEDS and related mast cell disorders.

Multimodal Photoacoustic/Elastography Imaging for the Detection of Acute Radiation Dermatitis in Breast Radiation Therapy

Purpose: This study evaluates whether photoacoustic (PA), sound touch elastography (STE), and viscoelasticity (VE) can distinguish between normal and abnormal post-radiotherapy breast skin and compare these methods with RTOG criteria at a 20 Gy threshold. Methods: Patients meeting inclusion and exclusion criteria underwent PA, STE, and VE on the same day. Collected data included radiation dose, molecular type, RTOG, Fitzpatrick skin type, pathology, neoadjuvant chemotherapy status, TNM classification, surgical procedures, primary breast cancer location, BMI, and age. A sample of 41 patients was determined using a two-sample t-test. Statistical tools like T-tests, variance analysis, rank sum tests, and chi-square tests, along with random forest analysis and ROC curves, were used to evaluate the radiation dose effects. Results: Data from 66 patients showed significant differences in parameters such as dermis and subcutaneous tissue oxygen saturation, dermal thickness, and skin elasticity (p-values < 0.05). However, minimum values of oxygen saturation and some photoacoustic measures were not significantly different. Notably, at a 20 Gy radiation threshold, significant variations in oxygen saturation, abnormal dermal thickness, and skin STE and VE were observed, proving more accurate than RTOG grading. Conclusion: The study confirms the effectiveness of PA and elastography imaging in differentiating normal from abnormal breast tissue and assessing radiation-induced changes, highlighting the potential of these imaging techniques.