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Biomedicines May 2024Inherited ichthyoses are a group of clinically and genetically heterogeneous rare disorders of skin keratinization with overlapping phenotypes. The clinical picture and...
Comprehensive Molecular Analysis of Disease-Related Genes as First-Tier Test for Early Diagnosis, Classification, and Management of Patients Affected by Nonsyndromic Ichthyosis.
Inherited ichthyoses are a group of clinically and genetically heterogeneous rare disorders of skin keratinization with overlapping phenotypes. The clinical picture and family history are crucial to formulating the diagnostic hypothesis, but only the identification of the genetic defect allows the correct classification. In the attempt to molecularly classify 17 unrelated Italian patients referred with congenital nonsyndromic ichthyosis, we performed massively parallel sequencing of over 50 ichthyosis-related genes. Genetic data of 300 Italian unaffected subjects were also analyzed to evaluate frequencies of putative disease-causing alleles in our population. For all patients, we identified the molecular cause of the disease. Eight patients were affected by autosomal recessive congenital ichthyosis associated with , , and mutations. Three patients had biallelic loss-of-function variants in , whereas 6/11 males were affected by X-linked ichthyosis. Among the 24 different disease-causing alleles we identified, 8 carried novel variants, including a synonymous variant that resulted in a splicing defect. Moreover, we generated a priority list of the ichthyosis-related genes that showed a significant number of rare and novel variants in our population. In conclusion, our comprehensive molecular analysis resulted in an effective first-tier test for the early classification of ichthyosis patients. It also expands the genetic, mutational, and phenotypic spectra of inherited ichthyosis and provides new insight into the current understanding of etiologies and epidemiology of this group of rare disorders.
PubMed: 38791074
DOI: 10.3390/biomedicines12051112 -
Archives of Dermatological Research May 2024Treatments for breast cancer can have an array of adverse effects, including hair loss, scarring, and irritated skin. These physical outcomes can, in turn, lead to body... (Review)
Review
Treatments for breast cancer can have an array of adverse effects, including hair loss, scarring, and irritated skin. These physical outcomes can, in turn, lead to body image concerns, anxiety, and depression. Fortunately, there is growing evidence that certain cosmetic therapies can improve patient self-image. Here we review various cosmetic treatment options including hair camouflage, eyebrow and eyelash camouflage, treatments for hirsutism, nipple and areola tattooing, post-mastectomy scar tattooing, treatments for dry skin/xerosis, removal of post-radiation telangiectasias, and lightening of post-radiation hyperpigmentation. For each patient concern, we report potential procedures, clinical evidence of impact on quality of life, special considerations, and safety concerns. This article aims to equip dermatologists with resources so that they may effectively counsel breast cancer survivors who express treatment-related cosmetic concerns.
Topics: Humans; Breast Neoplasms; Female; Quality of Life; Cosmetic Techniques; Mastectomy; Body Image; Cicatrix; Cancer Survivors; Tattooing
PubMed: 38787423
DOI: 10.1007/s00403-024-02898-1 -
Journal of Functional Biomaterials Apr 2024This paper presents methods for developing high-performance interface electrode materials designed to enhance signal collection efficacy during long-term (over 24 h)...
This paper presents methods for developing high-performance interface electrode materials designed to enhance signal collection efficacy during long-term (over 24 h) electrocardiography (ECG) monitoring. The electrode materials are fabricated by integrating commercial ECG liquid hydrogels with carbon nanotubes (CNTs), which are widely utilized in dry-electrode technologies and extensively discussed in the current scientific literature. The composite materials are either prepared by dispersing CNTs within the commercial liquid hydrogel matrix or by encasing the hydrogels in macroscopic CNT films. Both approaches ensure the optimal wetting of the epidermis via the hydrogels, while the CNTs reduce material impedance and stabilize the drying process. The resulting electrode materials maintain their softness, allowing for micro-conformal skin attachment, and are biocompatible. Empirical testing confirms that the ECG electrodes employing these hybrid hydrogels adhere to relevant standards for durations exceeding 24 h. These innovative hybrid solutions merge the benefits of both wet and dry ECG electrode technologies, potentially facilitating the extended monitoring of ECG signals and thus advancing the diagnosis and treatment of various cardiac conditions.
PubMed: 38786625
DOI: 10.3390/jfb15050113 -
Marine Drugs Apr 2024Glycosaminoglycans (GAGs) are valuable bioactive polysaccharides with promising biomedical and pharmaceutical applications. In this study, we analyzed GAGs using...
Glycosaminoglycans (GAGs) are valuable bioactive polysaccharides with promising biomedical and pharmaceutical applications. In this study, we analyzed GAGs using HPLC-MS/MS from the bone (B), muscle (M), skin (S), and viscera (V) of (SM), (P), (LF), (G), (PB), (PC), and (CH). Unsaturated disaccharide products were obtained by enzymatic hydrolysis of the GAGs and subjected to compositional analysis of chondroitin sulfate (CS), heparin sulfate (HS), and hyaluronic acid (HA), including the sulfation degree of CS and HS, as well as the content of each GAG. The contents of GAGs in the tissues and the sulfation degree differed significantly among the fish. The bone of contained more than 12 μg of CS per mg of dry tissue. Although the fish typically contained high levels of CSA (CS-4S), some fish bone tissue exhibited elevated levels of CSC (CS-6S). The HS content was found to range from 10-150 ug/g, primarily distributed in viscera, with a predominant non-sulfated structure (HS-0S). The structure of HA is well-defined without sulfation modification. These analytical results are independent of biological classification. We provide a high-throughput rapid detection method for tissue samples using HPLC-MS/MS to rapidly screen ideal sources of GAG. On this basis, four kinds of CS were prepared and purified from flounder bone, and their molecular weight was determined to be 23-28 kDa by HPGPC-MALLS, and the disaccharide component unit was dominated by CS-6S, which is a potential substitute for CSC derived from shark cartilage.
Topics: Animals; Chondroitin Sulfates; Glycosaminoglycans; Tandem Mass Spectrometry; Flounder; Chromatography, High Pressure Liquid; Bone and Bones; Skin; Hyaluronic Acid; Muscles
PubMed: 38786589
DOI: 10.3390/md22050198 -
Plastic and Reconstructive Surgery.... May 2024Autoimmune syndrome induced by adjuvants (ASIA) is an uncommon clinical condition reported by Shoenfeld et al. Although this syndrome is not scientifically validated,...
Autoimmune syndrome induced by adjuvants (ASIA) is an uncommon clinical condition reported by Shoenfeld et al. Although this syndrome is not scientifically validated, numerous reports on it have been published, and the manifestations are postulated to be diverse, including generalized symptoms such as chronic fatigue, myalgia, arthralgia, or dry mouth, induced by exogenous substances, specifically adjuvants, which can encompass vaccines, organisms, and silicone. Concurrently, adult-onset Still disease (AOSD) is also an infrequent ailment, characterized by spiking fever, arthritis, skin rash, lymphadenopathy, and serositis. Although the precise pathogenesis remains incompletely understood, some case reports suggest that ASIA may be at the root of AOSD development with the same instigator. In this context, we present three cases of patients diagnosed with AOSD, which possibly could be considered an association with ASIA, years after undergoing breast reconstruction with silicone breast implants. In one case, the patient solely received medical treatment due to her refusal to have the implant removed, resulting in multiple flares and severe complications related to glucocorticoid therapy. Conversely, in the other two cases, a combination of immunosuppressive therapy and silicone breast implant explantation led to the complete resolution of clinical symptoms. To the best of our knowledge, there are only 10 documented case reports of AOSD associated with silicone breast implants insertion. We believe this report serves as a complementary addition to prior research and offers further insights into the ongoing debate about whether explantation should be carried out early in the clinical course or not.
PubMed: 38784828
DOI: 10.1097/GOX.0000000000005844 -
Pediatric Dermatology May 2024Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability, conductive hearing loss, and epilepsy (CHIME) syndrome is a rare autosomal...
Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability, conductive hearing loss, and epilepsy (CHIME) syndrome is a rare autosomal recessive neuroectodermal disorder caused by PIGL gene mutations. There is emerging literature to support the use of interleukin-17 (IL-17) antagonists in the treatment of certain ichthyosiform dermatoses. Here, we report a case of severe ichthyosiform dermatosis in a child with CHIME syndrome who was recalcitrant to multiple topical medications and dupilumab. This is the first reported case of successful treatment of congenital ichthyosiform dermatosis in a CHIME syndrome patient with ixekizumab, an IL-17A antagonist.
PubMed: 38773877
DOI: 10.1111/pde.15648 -
Military Medicine May 2024During the novel coronavirus disease 2019 pandemic, health care workers experienced facial problems from prolonged use of N95 masks, including skin irritation,...
INTRODUCTION
During the novel coronavirus disease 2019 pandemic, health care workers experienced facial problems from prolonged use of N95 masks, including skin irritation, pigmentation changes, and contact dermatitis. We assessed the use of hydrocolloid dressing versus dimethicone cream to prevent skin breakdown among military health care workers while wearing an N95.
MATERIALS AND METHODS
Participants were recruited using convenience and snowball sampling in this nonblinded, randomized, cross-over study with 2 active treatments, hydrocolloid dressing and dimethicone cream, across 3 time points. The skin was assessed using photographs and subepidermal moisture scanner (SEM). N95 seal integrity was assessed using qualitative fit test. Institutional review board approval was obtained from the Madigan Army Medical Center Institutional Review Board.
RESULTS
Among the 73 participants, wearing an N95 alone versus with dimethicone cream or hydrocolloid dressing caused more adverse skin reactions. There were no significant differences in qualitative fit test failure rate between groups. Participants experienced minimal to no dizziness, loss of energy/tiredness/fatigue, claustrophobia, shortness of breath, difficulty breathing, and dry or itchy eyes. For all interventions, wearing an N95 did not interfere with participants' concentration, verbal communication, hearing, vision, and, importantly, delivery of care.
CONCLUSIONS
Using a skin protectant with an N95 may prevent adverse skin reactions while preserving health care workers' ability to safely and competently care for patients in routine and pandemic conditions.
PubMed: 38771104
DOI: 10.1093/milmed/usae202 -
EFSA Journal. European Food Safety... May 2024Following a request from the European Commission, EFSA was asked to deliver a scientific opinion on the safety and efficacy of tinctures obtained from the dried leaves...
Following a request from the European Commission, EFSA was asked to deliver a scientific opinion on the safety and efficacy of tinctures obtained from the dried leaves of L. (ginkgo tinctures) when used as sensory additives. The tinctures are water/ethanol solutions with a dry matter content of 5.7% (tincture A) and 3.0% (tincture B). The EFSA Panel on Additives and Products or Substances used in Animal Feed (FEEDAP) concluded that the additives under assessment are safe for the target species at the following concentrations in complete feed: (i) ginkgo tincture A at 240 mg/kg for horses and 750 mg/kg for dogs; (ii) ginkgo tincture B at 600 mg/kg for horses and 50 mg/kg for all other animal species. No safety concern would arise for the consumer from the use of ginkgo tinctures up to the maximum proposed use level in feed for the target species. The tinctures should be considered as irritants to skin and eyes, and as dermal and respiratory sensitisers. The use of ginkgo tinctures at the proposed use levels in feed for the target species is not considered to be a risk to the environment. While the available data indicate that Ginkgo preparations have a distinctive flavour profile, there is no evidence that ginkgo tinctures would impart flavour to a food or feed matrix. Therefore, the FEEDAP Panel cannot conclude on the efficacy of the additives.
PubMed: 38764478
DOI: 10.2903/j.efsa.2024.8798 -
EFSA Journal. European Food Safety... May 2024Following a request from the European Commission, EFSA was asked to deliver a scientific opinion on the safety and efficacy of a tincture from the leaves of Labill....
Following a request from the European Commission, EFSA was asked to deliver a scientific opinion on the safety and efficacy of a tincture from the leaves of Labill. (eucalyptus tincture) when used as a sensory additive for all animal species. The product is a ■■■■■ solution, with a dry matter content of ~ 1.86%, which contains on average 0.454% phenolic acids and flavonoids (of which 0.280% was gallic acid), 0.0030% 1,8-cineole and 0.00012% methyleugenol. In the absence of analytical data on the occurrence of mono- or diformylated adducts of acylphloroglucinols with terpenes in the tincture and in the absence of toxicity data, the Panel on Additives and Products or Substances used in Animal Feed (FEEDAP) could not conclude on the use of eucalyptus tincture for long-living and reproductive animals. For short-living animals (species for fattening), the additive was considered of no concern at 4 mg/kg complete feed for chickens for fattening, 5 mg/kg for turkeys for fattening, 6 mg/kg for piglets and rabbits for meat production, 7 mg/kg for pigs for fattening, 16 mg/kg for veal calves (milk replacer), 14 mg/kg for cattle for fattening, sheep/goats and horses for fattening, and 15 mg/kg for salmonids. These levels were extrapolated to physiologically related minor species. No safety concern would arise for the consumer from the use of eucalyptus tincture up to the levels in feed considered of no concern. Eucalyptus tincture should be considered as irritant to skin and eyes, and as a dermal and respiratory sensitiser. The use of eucalyptus tincture as a flavour in animal feed was not expected to pose a risk for the environment. Since the leaves of and their preparations were recognised to flavour food and their function in feed would be essentially the same, no demonstration of efficacy was considered necessary.
PubMed: 38764477
DOI: 10.2903/j.efsa.2024.8801 -
International Journal of Biological... Jun 2024The multifaceted role of hyaluronic acid (HA) across diverse biomedical disciplines underscores its versatility in tissue regeneration and repair. HA hydrogels employ... (Review)
Review
The multifaceted role of hyaluronic acid (HA) across diverse biomedical disciplines underscores its versatility in tissue regeneration and repair. HA hydrogels employ different crosslinking including chemical (chitosan, collagen), photo- initiation (riboflavin, LAP), enzymatic (HRP/H2O2), and physical interactions (hydrogen bonds, metal coordination). In biophysics and biochemistry, HA's signaling pathways, primarily through CD44 and RHAMM receptors, modulate cell behavior (cell migration; internalization of HA), inflammation, and wound healing. Particularly, smaller HA fragments stimulate inflammatory responses through toll-like receptors, impacting macrophages and cytokine expression. HA's implications in oncology highlight its involvement in tumor progression, metastasis, and treatment. Elevated HA in tumor stroma impacts apoptosis resistance and promotes tumor growth, presenting potential therapeutic targets to halt tumor progression. In orthopedics, HA's presence in synovial fluid aids in osteoarthritis management, as its supplementation alleviates pain, enhances synovial fluid's viscoelastic properties, and promotes cartilage integrity. In ophthalmology, HA's application in dry eye syndrome addresses symptoms by moisturizing the eyes, replenishing tear film deficiencies, and facilitating wound healing. Intravitreal injections and hydrogel-based systems offer versatile approaches for drug delivery and vitreous humor replacement. For skin regeneration and wound healing, HA hydrogel dressings exhibit exceptional properties by promoting moist wound healing and facilitating tissue repair. Integration of advanced regenerative tools like stem cells and solubilized amnion membranes into HA-based systems accelerates wound closure and tissue recovery. Overall, HA's unique properties and interactions render it a promising candidate across diverse biomedical domains, showcasing immense potentials in tissue regeneration and therapeutic interventions. Nevertheless, many detailed cellular and molecular mechanisms of HA and its applications remain unexplored and warrant further investigation.
Topics: Hyaluronic Acid; Humans; Wound Healing; Animals; Regeneration; Hydrogels; Bioengineering; Tissue Engineering
PubMed: 38763255
DOI: 10.1016/j.ijbiomac.2024.132454