A Novel Missense Mutation in Oncostatin M Receptor Beta Causing Primary Localized Cutaneous Amyloidosis

Primary localized cutaneous amyloidosis (PLCA) is a chronic skin disorder, caused by amyloid material deposition in the upper dermis. Autosomal dominant PLCA has been mapped earlier to pathogenic missense mutations in the OSMR gene, which encodes the oncostatin M receptor ß subunit (OSMRß). OSMRß is interleukin-6 family cytokine receptors and possesses two ligands, oncostatin M and interleukin-31, which both have biologic roles in inflammation and keratinocyte cell proliferation, differentiation, and apoptosis. Here, we identified a new OSMR mutation in a Kurdish family for the first time. Blood samples were taken from all the affected individuals in the family. DNA extraction was performed using salting out technique. Primers were designed for intron flanking individual exons of OSMR gene which were subjected to direct sequencing after PCR amplification for each sample. Sequencing showed a C/T substitution at position 613 in the proband. This mutation results in an L613S (leucine 613 to serine) amino acid change. The identified mutation was observed in all affected family members but not in 100 ethnically matched healthy controls. Elucidating the molecular basis of familial PLCA provides new insight into mechanisms of itch in human skin and may lead to new therapeutic targets for pruritus

Evaluation of Subcision for the Correction of the Prominent Nasolabial Folds

Background. A prominent nasolabial fold (NLF) is a cosmetic problem. Currently, numerous therapeutic modalities are available for pronounced NLFs with variable efficacy. Objective. To determine the efficacy and safety of subcision using a hypodermic needle for the correction of the prominent NLFs and its effect on skin elasticity. Methods. Sixteen patients with prominent NLFs underwent subcision. The investigators’ assessment of improvement and the patients’ satisfaction were both recorded 1 and 6 months after the procedure. Also, we evaluate the skin elasticity of NLFs before and after the treatment using a sensitive biometrologic device with the measurement of cutaneous resonance running time (CRRT). Results. Thirteen (81.25%) patients showed a moderate improvement at 1st month and 13 (81.25%) patients had at least a mild improvement at 6th month. There was no persistent side effect lasting more than a few days. Mean CRRT at 1 and 6 months after the treatment was significantly higher compared to the baseline. Conclusion. Subcision may be considered effective for the correction of pronounced NLFs. However, further controlled studies with larger sample size are necessary to assess the efficacy of this technique in particular with use of more objective assessment of skin biometric characteristics. This trial is registered with IRCT201108097270N1 (registered on January 27, 2012)

Cutaneous Leishmaniasis: Report of Two Atypical Cases

Multiple and unusual clinical features of cutaneous leishmaniasis (CL) had been reported as hyperkeratotic, psoriasiform, eczematoid, zosteriform pattern, warty lesions, erysipeloid, and acneiform lesions. The clinical features of CL primarily depend on the host's cell-mediated response and the species of Leishmania being involved. In this paper we reported two cases of atypical CL from Iran, Shohada-e-Tajrish and Loghman-e-Hakim hospitals presented with infiltrative erythematous lesions covering the perioral region and the lower limb, respectively. The diagnosis of cutaneous leishmaniasis was confirmed with skin smears and biopsies

Skin Biophysical Characteristics in Patients with Keratoconus: A Controlled Study

Background. Keratoconus is a relatively common corneal disease causing significant visual disability. Individuals with connective tissue disorders that affect the skin such as Marfan’s syndrome and Ehlers-Danlos syndrome or patients with atopic dermatitis show an increased prevalence of keratoconus. It seems that there are some concurrent alterations of skin and cornea in patients with keratoconus. Objective. We plan to compare skin biophysical characteristics in patients with keratoconus and healthy controls. Methods. Forty patients with keratoconus (18 females and 22 males) with mean (SD) age of 33.32 (9.55) years (range 19–56) and 40 healthy controls were recruited to this study. Skin biophysical characteristics including cutaneous resonance running time (CRRT), stratum corneum hydration, and melanin values were measured in patients and controls. Results. The median CRRT, stratum corneum hydration, and melanin measurements were significantly lower in patients with keratoconus in comparison with healthy controls. Conclusion. There are some alterations of skin biophysical properties in patients with keratoconus. Therefore, the assessment of these skin parameters could provide us some clues to the possible common biophysical variations of cornea and skin tissue in diseases such as keratoconus

The Potential of Algae in Treating Celiac Disease

Compounds found in algae, such as bioactive substances, sulfated polysaccharides, and polyunsaturated fatty acids, have been found to have positive effects on the immune system. Previous research has shown that algae can also benefit digestive system disorders. They possess antioxidant and anti-inflammatory properties and can influence the balance of gut microbiota and maintain the integrity of the intestinal lining. Celiac disease (CD), a disorder caused by an abnormal immune response to gluten, results in inflammation and damage to the intestinal lining, leading to problems with nutrient absorption. Although a lifelong gluten-free diet is the only treatment option for this disease, it is challenging to adhere to. Therefore, recent studies have focused on finding supplementary or alternative therapies for celiac disease patients. Traditional medical treatments, like anti-inflammatory and biological drugs, are associated with significant side effects and are not suitable for supplementary therapy for this group of patients. Algae shows promise as a potential research area for treating CD; however, their specific effects on this condition have not been widely studied. The aim of this study was to gather current information and draw attention to the potential use of algae extracts in treating CD to encourage further research in this field

Loss of Bim Increases T Cell Production and Function in Interleukin 7 Receptor–deficient Mice

Interleukin (IL)-7 receptor (R) signaling is essential for T and B lymphopoiesis by promoting proliferation, differentiation, and survival of cells. Mice lacking either IL-7 or the IL-7Rα chain have abnormally low numbers of immature as well as mature T and B lymphocytes. Transgenic expression of the apoptosis inhibitor Bcl-2 rescues T cell development and function in IL-7Rα–deficient mice, indicating that activation of a proapoptotic Bcl-2 family member causes death of immature and mature T cells. BH3-only proteins such as Bim, which are distant proapoptotic members of the Bcl-2 family, are essential initiators of programmed cell death and stress-induced apoptosis. We generated Bim/IL-7Rα double deficient mice and found that loss of Bim significantly increased thymocyte numbers, restored near normal numbers of mature T cells in the blood and spleen, and enhanced cytotoxic T cell responses to virus infection in IL-7Rα−/− mice. These results indicate that Bim cooperates with other proapoptotic proteins in the death of IL-7–deprived T cell progenitors in vivo, but is the major inducer of this pathway to apoptosis in mature T cells. This indicates that pharmacological inhibition of Bim function might be useful for boosting immune responses in immunodeficient patients

Toxicology and Metabolic Effects of Methanol and Formaldehyde on the Brain, a Review Article

Background: Methanol is a toxic alcohol for the human body. The molecular biology of methanol metabolites affecting different organs, such as the brain, is under investigation. This systematic review aimed to consider methanol toxic molecular biology, based on the original articles obtained from data banks to figure out recent achievements.Methods: Scientific articles regarding the toxic effects and metabolites of methanol on the central nervous system (CNS) were collected from valid databases and classified based on their validity. Exclusion criteria were articles with duplicates, no available full text, review articles, case reports, and letters.Results: Current metabolic reactions were addressed in the development of CNS diseases, such as optic neuropathy, basal ganglia lesions, and Alzheimer’s disease. However, proteomic investigations introduced new metabolic changes, and serum proteins regarding blood coagulation, vitamin A metabolism, and immune responses were suggested for early detection of toxicity.Conclusion: Besides CNS disorders introduced for methanol toxicity, there is no exact proteomic serum marker to diagnose toxicity soon; however, the interleukin-1 beta system is suggested as a candidate, and more investigation is required to improve its competency

The Main Targets of Okadaic Acid Toxin in Human Intestinal Caco-2 Cells: An Investigation of Biological Systems

Background: Okadaic acid (OA) is a toxin of polluted shellfish. Consuming the contaminated shellfish is accompanied by diarrhea and paralytic and amnesic disorders. There is a correlation between diarrhea and the consumed OA. Determining the critical targeted genes by OA was the aim of this study. Methods: The transcriptomic data about the effect of OA on human intestinal caco-2 cells were extracted from gene expression omnibus (GEO) and evaluated via the GEO2R program. The significant differentially expressed genes (DEGs) were included in a protein-protein interaction (PPI) network and the central nodes were enriched via gene ontology to find the crucial affected biological terms. Results: Among the 178 significant DEGs plus 50 added first neighbors, four hub-bottleneck genes (ALB, FOS, JUN, and MYC) were determined. Twenty-eight critical biological terms were identified as the dysregulated individuals in response to the presence of OA. “ERK1/2-activator protein-1 (AP-1) complex binds KDM6B promoter” was highlighted as the major class of biological terms. Conclusion: It can be concluded that down-regulation of ALB as a potent central gene leads to impairment of blood homeostasis in the presence of OA. Up-regulation of the other three central genes (JUN, FOS, and MYC) grossly affects the vital pathways in the human body

Acellular Fish Skin for Deep Dermal Traumatic Wounds Management; Introducing a Novel Dressing

The optimal therapy for deep wounds is based on the early debridement of necrotic tissue followed by wound coverage to avoid a systemic inflammatory response and optimize scar-free healing. The outcomes are affected by available resources and underlying patient factors, which cause challenges in wound care and suboptimal outcomes. Here we report a patient with deep dermal injury wounds, who was treated with platelet-rich fibrin (PRF) gel, plasma rich in growth factor (PRGF) gel, and acellular fish skin. Patient’s outcomes regarding healing and scar quality were collected objectively and subjectively for one year after the injury. Wounds treated with acellular fish skin demonstrated accelerated wound healing, a significantly higher water-storage capacity, and better pain relief. Furthermore, improved functional and cosmetic outcomes, such as elasticity, skin thickness, and pigmentation, were demonstrated. It seems that, the PRGF gel and PRF in combination with acellular fish skin grafts resulted in the faster healing of wounds and better functional and aesthetic outcomes than split-thickness skin grafts treatment