Loose Skin Research Articles

The Impact of Body Contouring Following Bariatric Surgery: A Prospective Examination of Psychosocial and Medical Impairment.

Body contouring surgery (BCS) to remove loose skin is often desired following bariatric surgery. This study prospectively examined psychosocial and medical functioning based on BCS status after bariatric surgery. N=56 adults who sought a BCS consultation following bariatric surgery completed measures of impairment, depression, and medical (e.g., rashes, infections) and psychosocial concerns due to loose skin. Assessments were repeated at 1- and 3-month follow-ups. Most did not undergo BCS due to insurance coverage denial/finances; n = 24 (42.9%) underwent BCS. The groups with and without BCS did not differ significantly in BMI, weight loss, impairment, or depression at any assessment; however, a significantly greater proportion of non-BCS patients reported several medical and psychosocial concerns due to loose skin relative to BCS patients at follow-up assessments. Greater loose skin concerns were associated significantly with greater impairment and depression at all assessments. Over half who sought BCS did not undergo BCS, mostly due to insurance/financial reasons. The BCS group had significantly fewer medical and psychosocial concerns related to loose skin at follow-ups. Greater loose skin concerns were associated with heightened levels of broad psychosocial impairments suggesting that loose skin and psychological concerns warrant greater clinical attention after bariatric surgery. 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 .

The first Japanese case of autosomal dominant cutis laxa with a frameshift mutation in exon 30 of the elastin gene complicated by small airway disease with 8 years of follow-up

BackgroundCutis laxa constitutes a diverse group of connective tissue diseases, both inherited and acquired, characterized by loose skin and varying systemic involvement, including pulmonary lesions. While cutis laxa has been linked to conditions like emphysema, asthma, and bronchiectasis, the specific pathological and radiological characteristics underlying pulmonary complications related to cutis laxa remain unclear.Case presentationA 36-year-old woman, diagnosed with cutis laxa at birth, presented to our outpatient clinic with severe obstructive ventilatory impairment, evident in pulmonary function tests (expiratory volume in one second (FEV1)/forced vital capacity (FVC): 34.85%; %residual volume [RV]: 186.5%; %total lung capacity [TLC]: 129.2%). Pulmonary function tests also indicated small airway disease (%FEF50%, 7.9%; %FEF75%, 5.7%; and %FEF25–75%, 6.8%). Computed tomography (CT) revealed the lack of normal increase in lung attenuation on expiratory CT scan, with no discernible emphysematous changes. Exome sequencing was performed to confirm the association between the pulmonary lesions and cutis laxa, revealing a frameshift variant in exon 30 of the elastin gene (ELN). Further analysis employing a parametric response map revealed a longitudinal increase in the percentage of functional small airway disease (fSAD) from 37.84% to 46.61% over the 8-year follow-up, despite the absence of overt changes in CT findings, specifically the lack of normal increase in lung attenuation on expiratory CT scan. Over the same follow-up interval, there was a modest reduction of 25.6 mL/year in FEV1 coupled with a significant increase in %RV. Pulmonary function test metrics, reflective of small airway disease, exhibited a continual decline; specifically, %FEF50%, %FEF75%, and %FEF25–75% diminished from 7.9% to 7.0%, 5.7% to 4.6%, and 6.8% to 5.4%, respectively.ConclusionsThis case highlighted an instance of autosomal dominant cutis laxa arising from a frameshift variant in exon 30 of ELN, accompanied by small airway disease. Comprehensive investigation, utilizing quantitative CT analysis, revealed a longitudinal increase in fSAD percentage with a mild reduction in FEV1. These findings indicate that elastin deficiency may not only diminish elastic fibers in the skin but also be implicated in small airway disease by impacting components of the extracellular matrix in the lungs.

Engineered loose nanofiltration membrane for efficient dye/salt separation by starting from poly(ether sulfone) powder modification

Loose nanofiltration (LNF) is increasingly considered as the powerful technique for dye desalination due to its clear advantages at energy efficiency, selectivity and low pollution. But the membrane materials for loose nanofiltration process still suffer from the low permeance, unsatisfactory selectivity, membrane fouling and high cost. Herein, we propose a new three-step route to fabricate efficient poly(ether sulfone) (PES) LNF membrane, which starts from PES powder modification via mutual radiation-induced grafting polymerization and ensues immersion precipitation phase inversion and amination processes. The obtained PES-based LNF membrane possessed a thinner skin layer and an unusual irregular vesicular pore structure in sublayer instead of the finger-like macrovoids of conventional PES membrane. Thus, it achieved larger filtration permeance (35.5 L m–2 h−1 bar−1), high dye rejection (93.7 % to Congo Red) but low salt rejection (2.9 % to NaCl) during the filtration process of Congo red-containing saline water. It also showed excellent separation stability at high operation pressure and tolerance to acidic, alkaline and chlorine-oxidative conditions. Therefore, such a three-step strategy could endow the PES membrane with both loose and thinner skin layer in a reliable and scalable way, enlightening the development of high-performance LNF membrane for wastewater treatment and resource recovery.

Upper Blepharoplasty through Infrabrow Skin Excision to Treat Dermatochalasis with Lateral Hooding and Medial Orbital Fat Loss in Selected Patients.

Dermatochalasis with lateral hooding and medial orbital fat loss are common signs of aging in the upper eyelid. Removing the excess skin in this area through infrabrow skin excision can effectively lift the loose skin of the upper eyelid and minimizes visible scarring. Additionally, we have identified three compartments of orbital fat prolapse based on orbital anatomy. Transferring volume from the lateral compartment to the intermediate region can flatten the lateral upper eyelid and create medial fullness, which ultimately rejuvenates the upper eyelid. This study presents an operative method for correcting age-related changes in the upper eyelid using this technique. A total of 34 eyelids from 17 patients underwent a surgical procedure involving infrabrow skin excision, along with repositioning and lifting of lateral orbital fat. The inclusion criteria consisted of patients with moderate to severe upper eyelid dermatochalasis, coupled with middle fat loss and lateral hooding. To correct lateral hooding and restore midfacial fullness, lateral orbital fat was repositioned to an intermediate position, and the orbicularis oculi muscle was fold-sutured to the corrugator supercilii muscle. The mean age of the patients was 55.59 ± 3.20 years, with a range of 48 to 61 years. The mean follow-up period was 9.94 ± 1.35 months, ranging from 8 to 12 months. Patients were evaluated at 1-month, 3-month, and 6-month intervals. The Strasser system was used to evaluate the surgical outcomes at 3 months. All patients achieved good surgical outcomes, expressed through satisfactory cosmetic improvements, and improved visual field. The procedure effectively corrected lateral hooding and loss of middle orbital fat through infrabrow skin excision. No complications, such as wound dehiscence, lagophthalmos, noticeable scarring, ocular dyskinesia, or sensory changes, were observed. The combination of infrabrow skin excision, repositioning of lateral orbital fat, and lifting of the orbicularis oculi muscle effectively addresses moderate to severe dermatochalasis, lateral hooding, medial fat loss, and improves elasticity of the anterior wall of the upper lid in our patients. This procedure can produce satisfactory and long-lasting aesthetic results with an inconspicuous scar beneath the brow.

Fibulin-5 Is Required for Small Artery Development and Function

Introduction: Fibulins are a family of eight extracellular matrix proteins with diverse functions. Fibulin-4 and -5 (FBLN-4 and -5), in particular, have been shown to be important for elastic fiber assembly. Mutations in each of the genes lead to cutis laxa, a syndrome characterized by loose skin with variable organ involvement, particularly in the vasculature, lungs and skeleton. We recently characterized a mouse model carrying a disease-causing mutation in Fbln4 (E57K) and, contrary to conduit arteries that had elastic fiber fragmentation and stiffness, Fbln4E57K resistance arteries were structurally intact. Functionally however, Fbln4E57K mesenteric arteries exhibited endothelial dysfunction secondary to increased shear stress from large artery stiffness. Loss of FBLN5 has been shown to lead to elastic fiber fragmentation in conduit arteries, but the consequences of its loss on resistance arteries are unknown. Therefore, the objectives of this study were to determine the structural and functional consequences of FBLN5 loss on resistance arteries. Methods: We utilized adult Fbln5 knock-out (KO) mice and examined the ultrastructure of renal and mesenteric arteries via transmission electron microscopy. Functionally, using pressure myography, we characterized the myogenic tone and reactivity of Fbln5 KO and littermate control third-order mesenteric arteries to various vasoactive substances including acetylcholine, papaverine, angiotensin II, phenylephrine and potassium chloride. Results: While the internal elastic lamina (IEL) of Fbln5KO mice resistance arteries was largely intact, the external elastic lamina (EEL) was nearly absent. Similar to Fbln4E57K mice, Fbln5KO mesenteric arteries exhibited impaired endothelial-dependent vasorelaxation, likely secondary to proximal large artery stiffness. Unlike Fbln4E57K mesenteric arteries however, Fbln5 KO mesenteric arteries exhibited increased myogenic tone as well as a hypercontractile response to angiotensin II and potassium chloride, but not to phenylephrine. Conclusions: In addition to highlighting differences in the requirements for elastic fiber assembly along the arterial tree, these data emphasize the differential contribution of FBLN4 and FBLN5 to IEL vs. EEL in resistance arteries and suggest pathway-specific changes in smooth muscle cell contractility secondary to FBLN5 deficiency. This work was supported by the Washington University Pediatric Nephrology Research Core Pilot Grant Program to CMH. Funds were also provided by The Department of Pediatrics at Washington University in St. Louis School of Medicine to CMH. This is the full abstract presented at the American Physiology Summit 2024 meeting and is only available in HTML format. There are no additional versions or additional content available for this abstract. Physiology was not involved in the peer review process.

13. Efficacy Of Renuvion Helium Plasma To Improve The Appearance Of Loose Skin In Patients Candidate To Abdominoplasty After Massive Weight Loss: Controlled Randomized Study

13. Efficacy Of Renuvion Helium Plasma To Improve The Appearance Of Loose Skin In Patients Candidate To Abdominoplasty After Massive Weight Loss: Controlled Randomized Study

The financial toxicity of postbariatric body contouring surgery: a survey study of an urban tertiary care center’s patients

BackgroundPatients with obesity who undergo bariatric surgery achieve sustained weight loss but are often left with excess skin folds that cause functional and psychological deficits. To remove excess skin, patients can undergo postbariatric BCS; however, cost and lack of insurance coverage present a significant barrier for many patients. ObjectivesThis study aimed to characterize the financial impact of treatment on all patients who received bariatric surgery and to compare between those receiving only bariatric surgery and those with postbariatric BCS. SettingEmail-based survey study at an urban tertiary care center. MethodsSurveys that included the COST-FACIT were sent to patients with a history of bariatric surgery and/or post-bariatric BCS. ResultsOne hundred and five respondents completed the survey, of which 19 reported having postbariatric BCS. Patients with postbariatric BCS had slightly higher COST scores than those receiving bariatric surgery only, but this difference was not significant (15.6 versus 17.8, P = .23). Most patients (76%) did not have an awareness of BCS or BCS cost prior to bariatric surgery, and many (68%) had more loose skin than anticipated. ConclusionsFinancial toxicity was similar across all postbariatric surgery patients surveyed regardless of history of BCS. However, survey respondents noted a gap between patient education and expectations around loose skin and body contouring that can be addressed through improved presurgical counseling.

Case Report: Unusual pulmonary involvement in a patient with Costello syndrome

Costello syndrome (CS) is a rare disease with intellectual disability, characterized by failure to thrive, short stature, joint laxity, loose soft skin, and distinctive facial features. This disease is caused by heterozygous germline mutations in the HRAS proto-oncogene. Cardiac and neurological abnormalities are the most common. Cardiovascular manifestations include valvular pulmonary stenosis, arrhythmia and hypertrophic cardiomyopathy. Neurological manifestations are dominated by hydrocephalus, seizures, and tethered spinal cord. Respiratory system manifestations have been reported in people with CS, but a full description of the different lung involvement and respiratory symptoms in these patients is not available. We report the case of a 19-year-old non-smoking man, followed for a Costello syndrome since the age of 8 months, who complained of exertional dyspnea and chest pain for over 18 months. The chest CT scan showed bullous emphysema of the left lung with a giant bulla in the left upper lobe measured than 20 cm long axis responsible for passive atelectasis. Pulmonary function tests revealed a severe non-reversible obstructive ventilatory defect. Faced with the worsening of his dyspnea despite treatment with bronchodilators and recurrent respiratory infections, it was decided to surgically remove the the giant emphysematous bulla. After bullectomy, a clinical and functional respiratory improvement was noted.

Tunable Hydrogel Electronics for Diagnosis of Peripheral Neuropathy.

Peripheral neuropathy characterized by rapidly increasing numbers of patients is commonly diagnosed via analyzing electromyography signals obtained from stimulation-recording devices. However, existing commercial electrodes have difficulty in implementing conformal contact with skin and gentle detachment, dramatically impairing stimulation/recording performances. Here, we develop on-skin patches with polyaspartic acid-modified dopamine/ethyl-based ionic liquid hydrogel (PDEH) as stimulation/recording devices to capture electromyography signals for the diagnosis of peripheral neuropathy. Triggered by a one-step electric field treatment, the hydrogel achieves rapid and wide-range regulation of adhesion and substantially strengthened mechanical performances. Moreover, hydrogel patches assembled with a silver-liquid metal (SLM) layer exhibit superior charge injection and low contact impedance, capable of capturing high-fidelity electromyography. We further verify the feasibility of hydrogel devices for accurate diagnoses of peripheral neuropathy in sensory, motor, and mixed nerves. For various body parts, such as fingers, the elderly's loose skin, hairy skin, and children's fragile skin, we regulate the adhesion of PDEH-SLM devices to establish intimate device/skin interfaces or ensure benign removal. Noticeably, hydrogel patches achieve precise diagnoses of nerve injuries in these clinical cases while providing extra advantages of more effective stimulation/recording performances. These patches offer a promising alternative for the diagnosis and rehabilitation of neuropathy in future. This article is protected by copyright. All rights reserved.

Time for change: compliance with RCS green theatre checklist-facilitators and barriers on the journey to net zero.

Climate change is an era-defining health concern, with healthcare related emissions paradoxically compounding negative impacts. The NHS produces 5% of the UK's carbon footprint, with operating theatres a recognised carbon hotspot. NHS England aims to become Net Zero by 2045. Consequently, UK Royal Colleges of Surgery have published guidance to foster an evidence-based sustainable transformation in surgical practice. A single-centre quality improvement project was undertaken, aiming to provide an overview of sustainable practice locally. The Intercollegiate "Green Theatre Checklist" was taken as an audit standard, focusing on "preparing for surgery" and "intraoperative equipment" subsections. Any general surgical procedure was eligible for inclusion. Usage of reusable textiles, non-sterile gloves, catheters, antibiotics, alcohol vs. water-based scrub techniques, skin sterilisation choices, and skin closure materials were recorded. Baseline data collection occurred over a 3 week period, followed by dissemination of results locally via clinical governance meetings and poster displays. A re-audit of practice was conducted using the same methodology and duration. Datasets 1 (n = 23) and 2 (n = 23) included open (n = 22), laparoscopic (n = 24), elective (n = 22) and non-elective (n = 24) cases. Good practice was demonstrated in reusable textiles (trolley covers 96%, 78%, drapes 100%, 92%) however procurement issues reduced otherwise good reusable gown use in Dataset 2 in (90%, 46%). No unnecessary catheter use was identified, and loose skin preparations were used unanimously. Uptake of alcohol-based scrubbing techniques was low (15%, 17%) and unnecessary non-sterile glove use was observed in >30% of procedures. All laparoscopic ports and scissors were single use. Carbon footprints were 128.27 kgCO2e and 117.71 kgCO2e in datasets 1 and 2 respectively. This project evidences good practice alongside future local focus areas for improved sustainability. Adoption of hybrid laparoscopic instruments, avoiding unnecessary equipment opening, and standardising reusable materials could reduce carbon and environmental impact considerably. Successful implementation requires considered procurement practices, improved awareness and education, clear leadership, and a sustained cultural shift within the healthcare community. Collaboration among professional institutions and access to supporting evidence is crucial in driving engagement and empowering clinicians to make locally relevant changes a reality.

Male spiny frogs enter the underwater battlefield with loose skin exhibiting enhanced penetration of capillaries into the epidermis

The skin has multiple functions, and capillaries can penetrate the epidermis to shorten the diffusion path while allowing maintenance of overall epidermal thickness for nonrespiratory roles. However, a method for quantifying the capillary penetration extent is lacking. Such a method may facilitate making comparisons and detecting associations, potentially making the extent a useful variable in biological studies. We quantified the extent as the ratio of the average minimum thickness of epidermis overlying each capillary to the average epidermal thickness along a skin section and then explored its performance in the Emei mustache toad, Leptobrachium boringii, a species in which breeding males with loose skin call and fight each other with maxillary spines underwater. The ratio showed informative associations with other variables, such as perfused capillary density. It displayed small intragroup variation and could be more sensitive than other variables in revealing structural differences in the skin. The ratio estimates were lowest and were correlated with epidermal and stratum compactum thicknesses in breeding males, i.e., a covariation but not reinforcement against stabbing, constituting early evidence consistent with the increased extensibility of loose skin conferring a defensive advantage during combat in amphibians. In addition, our results lead to the hypothesis that high hemoglobin density along subepidermal capillaries favors the maintenance of low blood partial oxygen pressure and hence increases cutaneous oxygen uptake. We also provide evidence supporting the new idea that the cooccurrence of loose skin and underwater calling found in some frogs can be explained by the latter benefiting from a large functional respiratory surface area. Awareness of the usefulness of the ratio may promote its application and the quantification of the penetration. Regarding exchange surface design, these findings for L. boringii imply a case in which looseness increases surface area as well as prevents damage.

Consumer attitudes toward aging skin during the COVID-19 pandemic.

This study investigated how consumers' attitudes toward their skin changed during the COVID-19 pandemic. A cross-sectional survey was conducted using REDCap. A total of 1,434 participants were recruited and consented to participate online through ResearchMatch. The survey gathered demographic information and assessed participants' attitudes toward their skin using a Likert scale. An ordered logistic regression analysis was performed. Nearly one-third of participants felt unhappy with their skin. Forty four percent feel less happy about their skin compared with 5 years earlier. The top skin concerns were eye puffiness (86.5%), loose skin (85.1%), uneven tone (84.9%), uneven texture (83.5%), and dry skin (81.4%). Video conferencing (31%), wearing masks (23%), and increased stress (21%) during the COVID-19 pandemic affected how participants felt about their skin. Compared with men, women were 1.6 to 1.8 times (P < .01) more likely to "strongly agree" that all 3 pandemic-related factors-video conferencing, wearing masks, and increased stress-affected how they felt about their skin. Younger age groups were 1.5 to 2.8 times (P < .01) more likely to answer in the top category for all 3 pandemic-related factors compared with the oldest age group. Recruitment of participants was limited to English-speaking adults aged 18 years or older who were registered on ResearchMatch, which underrepresents minority populations. Further studies should be conducted to elucidate how the pandemic affected perceptions of skin. Skin aging is a significant concern among adults of all ages. The COVID-19 pandemic has exacerbated skin concerns. Women and young adults are more likely to be affected by the COVID-19 pandemic in their attitudes toward their skin.

Prenatal Diagnosis of Costello Syndrome Using Noninvasive Prenatal Single Gene Testing With Maternal Blood

Introduction Costello syndrome (CS) is a rare disorder that affects multiple organ systems, which is usually diagnosed postnatally, except for 2 cases diagnosed prenatally from chromosome analysis by amniocentesis. We present the first case of prenatally diagnosed CS via maternal blood testing. Case Description A 38-year-old woman was referred for genetic screening at 28 weeks of gestational age (GA) due to polyhydramnios and shortened limbs seen on prenatal ultrasound. Cell-free DNA, noninvasive prenatal single gene screening was positive for G12S HRAS mutation, which is indicative of CS. The infant was delivered via elective repeat cesarean section at 36 weeks and 6 days GA, was admitted to the neonatal intensive care unit for respiratory distress. Physical examination was significant for macrocephaly, wide depressed nasal bridge, short neck, rhizomelic limb shortening, micropenis, and bilateral equinovarus deformity of the feet. Echocardiography on the first day showed severe pulmonary hypertension. Brain MRI showed a possible cavernous mass lesion and small arachnoid cyst over the left cerebellar hemisphere. Postnatal gene-targeted testing confirmed CS diagnosis with pathogenic variants. The infant was managed for respiratory distress, hypoglycemia, jaundice, and feet deformities. He was subsequently transferred to another hospital at 45 weeks of age for gastrostomy tube placement due to persistent difficulty with oral feeding. Discussion CS affects multiple organ systems. Clinical presentations includes short stature; macrocephaly; coarse facial features, loose and soft skin; hypotonia and joint laxity; cardiac involvement with congenital heart defect, feeding difficulty, and developmental delay. The phenotypic spectrum is wide and can range from mild features to early lethal complications mostly as a result of severe progressive Hypertrophic Cardiomyopathy (HCM) and respiratory compromise. CS is an autosomal dominant genetic disorder caused by mutations in the HRAS gene, but almost all cases have new mutations with no family history. Disease course depends on cardiac and predisposition to benign and malignant tumor complications. Treatment requires a multidisciplinary team directed toward the specific clinical findings. Conclusion To our knowledge, this is the first reported case of prenatally diagnosed CS via maternal blood testing. Molecular diagnosis in the prenatal period allows neonatal care providers to prepare for potential complications in the postnatal period.

The combination of endoscopic subcutaneous mastectomy and liposuction (Liu and Shang’s 2-hole 7-step method) as the treatment of gynecomastia

BackgroundMost patients suffering from gynecomastia require treatment to maintain a smooth subcutaneous tissue contour, remove loose skin, and leave a suitable nipple-areolar complex with minimal scarring; hence, surgery has become the prime choice to treat gynecomastia. Based on our experience, Liu and Shang’s 2-hole 7-step method works well for these patients. MethodsFrom November 2021 to November 2022, a total of 101 gynecomastia patients featuring various Simon grades were included in this study. The patients’ basic condition and surgical procedure were recorded in detail. A score of 1 to 5 was given for 6 main aesthetic aspects. ResultsWith Liu and Shang’s 2-hole 7-step method, the operations were successfully completed in all 101 patients. Six patients had Simon grade I, 21 grade IIA, 56 grade IIB, and 18 grade III. The average surgery time was 86.54 (range = 46–144) minutes. The average intraoperative blood loss was 22.7 (range = 10 ∼ 75) mL. The average postoperative drainage time was 2.35 (range = 1–4) days, the drainage volume was 83.35 (range = 13∼240) mL, and the drainage mainly occurred on the first postoperative day. The scores on all 6 aesthetic aspects were >4 points, which fully affirmed the aesthetic effect of this method. ConclusionLiu and Shang’s 2-hole 7-step method is safe and feasible for treating gynecomastia and has been fully affirmed for its efficacy and cosmetic effect. It can be the main option for minimally invasive surgery to treat gynecomastia.

Comparison of structural characteristics and molecular markers of rabbit skin, pig skin, and reconstructed human epidermis for an ex vivo human skin model

The Organization for Economic Co-operation and Development approved a reconstructed human epidermis (RHE) model for in vitro skin irritation and corrosion tests as an alternative to animal testing for cosmetics, which has been banned in the European Union since 2013. However, RHE models have several limitations, such as high manufacturing costs, a loose skin barrier, and inability to simulate all cellular and non-cellular components of the human epidermis. Therefore, new alternative skin models are needed. Ex vivo skin models have been suggested as promising tools. Here, we investigated the structural similarities in the epidermis of pig and rabbit skin, a commercial RHE model (Keraskin), and human skin. To compare the structural similarity, the thickness of each epidermal layer was compared using molecular markers. Among the candidate human skin surrogates, the epidermal thickness of the pig skin was the most similar to that of human skin, followed by rabbit skin and Keraskin. Keraskin showed thicker cornified and granular layers than human skin, while rabbit skin displayed thinner layers. Moreover, the proliferation indices of Keraskin and rabbit skin were higher than those of human skin, whereas the proliferation index of the pig skin was similar to that of human skin. Some or none of the human skin barrier proteins FLG, CLDN1, and CDH1 were expressed in pig and rabbit skin, whereas all human proteins were expressed in Keraskin. Collectively, we propose ex vivo pig skin as the most suitable model for skin irritation testing because of its similarity to human skin.

Two novel homozygous variants of ATP6V0A2 and ALDH18A1 lead to autosomal recessive cutis laxa type 2 and 3 in two Pakistani families.

Autosomal recessive cutis laxa type 2A (ARCL2A; OMIM: 219200) is characterized by neurovegetative, developmental and progeroid elastic skin anomalies. It is caused by biallelic variation in ATPase, H+ transporting V0 subunit A2 (ATP6V0A2; OMIM: 611716) located on chromosome 12q24.31. Autosomal recessive cutis laxa type 3A (ARCL3A; OMIM: 219150) is another subclinical type characterized by short stature, ophthalmological abnormalities and a progeria-like appearance. The ARCL3A is caused by loss of function alterations in the aldehyde dehydrogenase 18 family member A1 (ALDH18A1; OMIM: 138250) gene located at chromosome 10q24.1. Whole-exome sequencing (WES), and Sanger sequencing were performed for molecular diagnosis. 3D protein modeling was performed to investigate the deleterious effect of the variant on protein structure. In this study, clinical and molecular diagnosis were performed for two families, ED-01 and DWF-41, which displayed hallmark features of ARCL2A and ARCL3A, respectively. Three affected individuals in the ED-01 family (IV-4, IV-5 and V-3) displayed sagging loose skin, down-slanting palpebral fissures, excessive wrinkles on the abdomen, hands and feet, and prominent veins on the trunk. Meanwhile the affected individuals in the DWF-41 family (V-2 and V-3) had progeroid skin, short stature, dysmorphology, low muscle tone, epilepsy, lordosis, scoliosis, delayed puberty and internal genitalia. WES in the index patient (ED-01: IV-4) identified a novel homozygous deletion (NM_012463.3: c.1977_1980del; p.[Val660LeufsTer23]) in exon 16 of the ATP6V0A2 while in DWF-41 a novel homozygous missense variant (NM_001323413.1:c.1867G>A; p.[Asp623Asn]) in exon 15 of the ALDH18A1 was identified. Sanger validation in all available family members confirmed the autosomal recessive modes of inheritances in each family. Three dimensional in-silico protein modeling suggested deleterious impact of the identified variants. Furthermore, these variants were assigned class 1 or "pathogenic" as per guidelines of American College of Medical Genetics 2015. Screening of ethnically matched healthy controls (n= 200 chromosomes), excluded the presence of these variations in general population. To the best of our knowledge, this is the first report of ATP6V0A2 and ALDH18A1 variations in the Pakhtun ethnicity of Pakistani population. The study confirms that WES can be used as a first-line diagnostic test in patients with cutis laxa, and provides basis for population screening and premarital testing to reduce the diseases burden in future generations.

Heat tolerance in Mashona beef cows in semi-arid rangelands: does conformation matter?

High temperatures and frequent heat waves raise concerns about heat stress in cattle in grass-based systems, especially in arid and semiarid areas. This study analysed the relationship between conformation traits and physiological parameters associated with heat stress in Mashona cattle. A total of 200 records from fifty cows were used to study the relationships between seven conformation traits and physiological parameters associated with heat stress. Body conformation traits were categorised into three principal components related to body capacity (body depth, flank circumference, chest girth), frame size (stature and body length), and loose skin fold (navel height and dewlap size). As the size of abdominopelvic and thoracic cavities increased, respiratory rate, heart rate, and rectal temperature decreased significantly, while blood triiodothyronine concentration increased. Cattle with deeper bodies, larger flanks, and larger chest girths had significantly lower heart rate, respiratory rate, and rectal temperature but higher blood triiodothyronine concentration than cattle with shallower bodies, smaller flanks, and smaller chest girths. Respiratory rate increased with increasing frame size. Large-framed cattle had significantly higher respiratory rate and lower blood thyroxine concentration. Small-framed cattle with larger chest girth, larger dewlap, and navel farther from the ground surface are better adapted to higher ambient temperatures.

Application of Intratissue Laser Ablation in Facial Morphological Modification.

Objective: To conduct a retrospective analysis of the therapeutic effects of laser ablation in maxillofacial applications. Methods: Laser ablation was performed in 97 patients, 27 cases of facial fat accumulation, 40 cases of sagging caused by facial aging, 16 cases of soft tissue asymmetry, and 14 cases of facial hyperplasia. Laser parameters were as follows: lipolysis 8 W, 90-120 J/cm2, and the ablation of hyperplastic tissue 9-10 W, 150-200 J/cm2. The subcutaneous thickness, facial morphology, patient's self-evaluation, and satisfaction were evaluated. Results: Laser ablation reduced the subcutaneous thickness, and tightened loose skin. The patient's appearance looked younger and more beautiful. The curves of the facial contours were more of Oriental beauty. The hyperplasia site became thinner, and the facial asymmetry was corrected or significantly improved. Most of the patients were satisfied with the outcome. There were no serious complications besides swelling. Conclusions: Laser ablation can effectively treat thickening and relaxation of maxillofacial soft tissues. With low risk, few complications, and quick recovery, it can be used as a first-line treatment for maxillofacial soft tissue plastic surgery.

Sustained Release Microneedles: Materials and Applications in Facial Rejuvenation.

Wrinkled and loose skin resulting from collagen degradation along with fibers decreasing reflects the youth diminishing. Microneedles (MNs) have opened up new avenues for the development of painless and noninvasive transdermal drug delivery systems for facial rejuvenation. Encapsulated drugs or molecules are transmitted to targeted tissues via percutaneous microchannels, which eliminate potential gastric stimulation or first-pass metabolic effects, as well as boost patient compliance. Although MNs are considered effective and feasible therapeutic alternatives to metals, silicon, and polymers, traditional procedures with reduction processes continue to encounter methodological limitations. In recent years, promising additive manufacturing processes such as three-dimensional printing and two-photon polymerization manufacturing have been developed with the aim of overcoming the limitations by traditional processes to facilitate an efficient and economic production mode. This review summarizes the design, material selection, and manufacturing method for recently advanced MN systems. Furthermore, we also highlight specific polymeric or natural microneedle products, like hyaluronan, plant derivates, and vitamins, for esthetic applications in this review. Impact Statement In this review, the materials and manufactural routes of microneedles (MNs) are detailed. Moreover, similar to the diagnostic or therapeutic MNs, the feature of dispensation with training and ready-to-use is perfect for beautification and anti-aging, which necessitate repeated and long-term usage. Furthermore, the specific polymeric or natural products for esthetic applications of MNs are highlighted in this review.

Safety and Efficacy of Renuvion Helium Plasma to Improve the Appearance of Loose Skin in the Neck and Submental Region.

Minimally invasive procedures that deliver thermal energy to subcutaneous tissue offer a solution when deciding between excisional and noninvasive options to address face and neck aging-related changes. A minimally invasive helium plasma device, Renuvion, was first utilized for subdermal tissue heating to reduce skin laxity under an FDA general clearance for cutting, coagulation, and ablation of soft tissue. The purpose of this study was to demonstrate the safety and effectiveness of the helium plasma device for improving the appearance of loose skin in the neck and submental region. Patients undergoing the procedure with the helium plasma device in the neck and submentum were studied. They were seen for 6 months following the procedure. The primary effectiveness endpoint for improvement in lax skin in the treatment area was determined by 2 of 3 blinded photographic reviewers. The primary safety endpoint was the level of pain after treatment. The primary effectiveness endpoint was met; 82.5% demonstrated improvement at Day 180. The primary safety endpoint was met; 96.9% of patients experienced no pain to moderate pain to Day 7. There were no serious adverse events reported related to the study device or procedure. The data demonstrate benefit to patients by improvement of the appearance of lax skin in the neck and submental region. Outcomes resulted in US Food and Drug Administration 510(k) clearance in July 2022, expanding indications for the device to include subcutaneous dermatological and aesthetic procedures to improve the appearance of loose skin in the neck and submental region.