Molecular analysis of inherited disorders of cornification in polish patients show novel variants and functional data and provokes questions on the significance of secondary findings.

Background: The Mendelian Disorders of Cornification (MeDOC) comprise a large number of disorders that present with either localised (palmoplantar keratoderma, PPK) or generalised (ichthyoses) signs. The MeDOC are highly heterogenic in terms of genetics and phenotype. Consequently, diagnostic process is challenging and before implementation of the next generation sequencing, was mostly symptomatic, not causal, which limited research on those diseases.

The Role of microRNA in the Regulation of Cortisol Metabolism in the Adipose Tissue in the Course of Obesity.

The similarity of the clinical picture of metabolic syndrome and hypercortisolemia supports the hypothesis that obesity may be associated with impaired expression of genes related to cortisol action and metabolism in adipose tissue. The expression of genes encoding the glucocorticoid receptor alpha (), cortisol metabolizing enzymes (, , ), and adipokines, as well as selected microRNAs, was measured by real-time PCR in adipose tissue from 75 patients with obesity, 19 patients following metabolic surgery, and 25 normal-weight subjects. Cortisol levels were analyzed by LC-MS/MS in 30 pairs of tissues.

Elastography of nerves in the wrists of cyclists.

Purpose: This study aimed to investigate changes in the elasticity of the median and ulnar nerves in cyclists.

Material And Methods: The study included 30 cyclists and 2 non-biking reference groups that included 32 healthy volunteers and 32 individuals with ulnar nerve entrapment neuropathies. All participants underwent physical, ultrasonographic, and elastographic examinations including assessment of nerve cross-sectional area (CSA) and stiffness (SWE).

Polish Translation and Linguistic Validation of the SCAR-Q.

Introduction Patient-reported outcome measurements (PROMs) are gaining considerable popularity as tools to assess the effectiveness of the treatment in plastic surgery, being a complement to surgical outcomes. The SCAR-Q questionnaire has been recently developed for patients with surgical, traumatic, and burn scars. Aim The study aims to describe the process of translation and linguistic validation of the scar questionnaire (SCAR-Q) for use in Polish patients undergoing scar treatment.

AGER-1 Long Non-Coding RNA Levels Correlate with the Expression of the Advanced Glycosylation End-Product Receptor, a Regulator of the Inflammatory Response in Visceral Adipose Tissue of Women with Obesity and Type 2 Diabetes Mellitus.

The advanced glycosylation end-product receptor (AGER) is involved in the development of metabolic inflammation and related complications in type 2 diabetes mellitus (T2DM). Tissue expression of the AGER gene () is regulated by epigenetic mediators, including a long non-coding RNA AGER-1 (lncAGER-1). This study aimed to investigate whether human obesity and T2DM are associated with an altered expression of and lncAGER-1 in adipose tissue and, if so, whether these changes affect the local inflammatory milieu.

Treatment of Complications After Minimally Invasive Breast Augmentation with Aquafilling Gel.

Introduction: Recent studies have revealed that Aquafilling gel used for breast augmentation causes complications. In this study, we investigated which surgical approach should be used to treat these complications.

Materials And Methods: This observational cohort study analysed the data of 31 women suffering from complications after breast enlargement with Aquafilling injection who were treated at our department in 2016-2021.

The elastography of distal ulnar nerve branches in cyclists.

Introduction: Forced elbow flexion and pressure during bicycling result in ulnar nerve traction and pressure exerted in Guyon's canal or the nerve's distal branches. The compression of the nerves causes a change in their stiffness related to edema and eventually gradual fibrosis.

Purpose: This study aimed to evaluate the elastography of terminal branches of the ulnar nerve in cyclists.

Ten-Eleven Translocation 1 and 2 Enzymes Affect Human Skin Fibroblasts in an Age-Related Manner.

Ten-eleven translocation (TET) enzymes catalyze the oxidation of 5-methylcytosine (5mC), first to 5-hydroxymethylcytosine (5hmC), then to 5-formylcytosine (5fC), and finally to 5-carboxycytosine (5caC). Evidence suggests that changes in TET expression may impact cell function and the phenotype of aging. Proliferation, apoptosis, markers of autophagy and double-strand DNA break repair, and the expression of Fibulin 5 were assessed by flow cytometry in TET1 and TET2-overexpressing fibroblasts isolated from sun-unexposed skin of young (23-35 years) and age-advanced (75-94 years) individuals.

Distal Hand Migration of Polyacrylamide Gel after Breast Augmentation: A Case Report and Review of the Literature.

Breast augmentation is one of the most popular cosmetic surgery procedures in the world and it requires a comprehensive study of the methods performed. As less-invasive techniques are sought, tissue fillers have found its purpose in these procedures. However, it has been revealed that some of them may be associated with serious complications.

Fatty acid profiles in various lipid fractions in the female epidermis. Does the body site and age matter?

Background: The epidermis forms the barrier between an organism and its external environment. Although one of the major functional elements of the epidermis is the lipid-enriched extracellular matrix, containing mainly ceramides, cholesterol (CHOL) and free fatty acids, the data are limited regarding the lipid profile in the epidermis. The aim of the study was to determine the whole profile of fatty acids (FAs) in the epidermis and to examine any dependence according to the age of the subject and the site on the epidermis.

Epigenetic Regulation of Estrogen Receptor Genes' Expressions in Adipose Tissue in the Course of Obesity.

Estrogen affects adipose tissue function. Therefore, this study aimed at assessing changes in the transcriptional activity of estrogen receptor (ER) α and β genes (ESR1 and ESR2, respectively) in the adipose tissues of obese individuals before and after weight loss and verifying whether epigenetic mechanisms were involved in this phenomenon. ESR1 and ESR2 mRNA and miRNA levels were evaluated using real-time PCR in visceral (VAT) and subcutaneous adipose tissue (SAT) of 78 obese (BMI > 40 kg/m2) and 31 normal-weight (BMI = 20−24.

Efficiency assessment of irrigation as an alternative method for improving the regenerative potential of non-healing wounds.

The application of mesenchymal stem/stromal cells (MSC) in regenerative medicine offers hope for the effective treatment of incurable or difficult-to-heal diseases. However, it requires the development of unified protocols for both safe and efficient cell acquisition and clinical usage. The therapeutic effect of fat grafts (containing stem cells) in non-healing wounds has been discussed in previous studies, although the application requires local or general anaesthesia.

Long-term sensibility outcomes of secondary digital nerve reconstruction with sural nerve autografts: a retrospective study.

Background: Recovery of sensibility after digital nerve injury is crucial for restoring normal hand function. We evaluated long-term outcomes of digital nerve reconstruction with autografts.

Methods: This retrospective study included patients who underwent secondary reconstruction of digital nerves with nerve autografting.

Secondary release of the peripheral nerve with autologous fat derivates benefits for functional and sensory recovery.

The reconstruction of nerve continuity after traumatic nerve injury is the gold standard in hand surgery. Immediate, tension-free, end-to-end nerve suture ensures the best prognosis. The recovery is mostly promising; however, in a few cases, insufficient outcomes in motor or sensory function are observed.

Intra-rater reproducibility of shear wave elastography in the evaluation of facial skin.

Introduction: Recently, esthetic medicine has been gaining its momentum worldwide, mostly due to the development of minimally invasive techniques. In our opinion, elastography can be a candidate for an objective quantitative method to evaluate facial skin condition. The aim of this study was to determine intra-rater reproducibility of shear wave elastography (SWE) in the evaluation of facial skin in patients qualified for minimally invasive nonsurgical facial rejuvenation treatment.

Age-related changes in elastographically determined strain of the facial fat compartments: a new frontier of research on face aging processes.

Introduction: Our study goal was verification of shear-wave elastography (SWE) as an assessment tool enabling quantitative analysis of facial fat tissue elasticity, using the example of the deep medial cheek fat compartment (DMCFC), due to its major role in pseudoptosis etiology.

Aim: Furthermore, we determined the age-specific reference values for DMCFC elasticity and analyzed its correlation with body mass index (BMI) and DMCFC thickness.

Material And Methods: The study included 89 female patients (age: 18-63 years, mean: 45.

Autoimmune syndrome induced by adjuvants after breast enhancement with polyacrylamide hydrogel: a study in Poland.

Autoimmune syndrome induced by adjuvants (ASIA) is the spectrum of diseases in which the substances considered inert to the body induce autoimmune reactions and inflammation. Some of the biomaterials recently used in plastic surgery, such as silicone or polyacrylamide hydrogel (PAAG) seem to trigger clinical features of ASIA. The aim of this study was to assess the incidence of these features within a group of women after breast augmentation with PAAG.

The Impact of N-Acetylcysteine on Autologous Fat Graft: First-in-Human Pilot Study.

Background: Our goal was to determine whether N-acetylcysteine (NAC) administered to the tumescent solution can reduce oxidative stress and increase autologous fat graft (AFG) viability.

Methods: The study included 15 women with a mean age of 31.8 years (range 23-39 years) who underwent breast asymmetry correction with AFG harvested from both thighs.

Molecular Analysis of the Gene Mutations in Patients with Stargardt Disease Using Human Hair Follicles.

gene mutations are the cause of a spectrum of retinopathies, and the most common juvenile macular degeneration is called Stargardt disease. has previously been observed almost exclusively in the retina. Therefore, studying the functional consequences of variants has required advanced molecular analysis techniques.

The Impact of N-Acetylcysteine on Autologous Fat Graft: First-in-Human Pilot Study.

Background: Our goal was to determine whether N-acetylcysteine (NAC) administered to the tumescent solution can reduce oxidative stress and increase autologous fat graft (AFG) viability.

Methods: The study included 15 women with a mean age of 31.8 years (range 23-39 years) who underwent breast asymmetry correction with AFG harvested from both thighs.

Intrathecal Infusion of Autologous Adipose-Derived Regenerative Cells in Autoimmune Refractory Epilepsy: Evaluation of Safety and Efficacy.

Unlabelled: . Evaluation of efficacy and safety of autologous adipose-derived regenerative cells (ADRCs) treatment in autoimmune refractory epilepsy. .

Alterations in 5hmC level and genomic distribution in aging-related epigenetic drift in human adipose stem cells.

To clarify mechanisms affecting the level and distribution of 5-hydroxymethylcytosine (5hmC) during aging. We examined levels and genomic distribution of 5hmC along with the expression of ten-eleven translocation methylcytosine dioxygenases (TETs) in adipose stem cells in young and age-advanced individuals. 5hmC levels were higher in adipose stem cells of age-advanced than young individuals (p = 0.