Chromosome 22q11.2 Deletion Syndrome: A Comprehensive Review of Molecular Genetics in the Context of Multidisciplinary Clinical Approach.

The 22q11.2 deletion syndrome is a multisystemic disorder characterized by a marked variability of phenotypic features, making the diagnosis challenging for clinicians. The wide spectrum of clinical manifestations includes congenital heart defects-most frequently conotruncal cardiac anomalies-thymic hypoplasia and predominating cellular immune deficiency, laryngeal developmental defects, midline anomalies with cleft palate and velar insufficiency, structural airway defects, facial dysmorphism, parathyroid and thyroid gland hormonal dysfunctions, speech delay, developmental delay, and neurocognitive and psychiatric disorders. Significant progress has been made in understanding the complex molecular genetic etiology of 22q11.2 deletion syndrome underpinning the heterogeneity of clinical manifestations. The deletion is caused by chromosomal rearrangements in meiosis and is mediated by non-allelic homologous recombination events between low copy repeats or segmental duplications in the 22q11.2 region. A range of genetic modifiers and environmental factors, as well as the impact of hemizygosity on the remaining allele, contribute to the intricate genotype-phenotype relationships. This comprehensive review has been aimed at highlighting the molecular genetic background of 22q11.2 deletion syndrome in correlation with a clinical multidisciplinary approach.

Evaluation of the Effect of SPIDER System Therapy on Weight Shifting Symmetry in Chronic Stroke Patients-A Randomized Controlled Trial.

(1) Background: The Strengthening Program for Intensive Developmental Exercises and Activities for Reaching Health Capability (SPIDER) system is dedicated to patients with motor deficits resulting from damage to the peripheral or central nervous system (including post-stroke patients). It enables the conduct of forced-weight-bearing therapy to the lower limb affected by the paresis. In this study, the TYMO® measuring platform was used to quantify the impact of therapy using the SPIDER system and therapy that did not use this system. The TYMO® device is a portable posturography platform that monitors the tilting of the body's center of mass and reports the results of the rehabilitation process. (2) Objective: To evaluate the effect of therapy based on neurophysiological methods (proprioceptive neuromuscular facilitation (PNF), neurodevelopmental treatment according to the Bobath concept (NDT-Bobath)) and the SPIDER system on body weight transfer shifting, in post-stroke patients in the chronic phase, compared to therapy based on neurophysiological methods (PNF, NDT-Bobath), without the use of the SPIDER system. (3) Methods: This is a randomized controlled trial in which patients (n = 120; adults, post-ischemic stroke-first stroke episode, in chronic phase-up to 5 years after the stroke incident) were assigned to one of two groups: study, n = 60 (with therapy using PNF, NDT-Bobath methods and the SPIDER system); and control, n = 60 (with therapy using PNF and NDT-Bobath methods, without the SPIDER system). In patients in both groups, before and after the training (2 weeks of therapy), body weight distribution was measured on the TYMO® platform. (4) Results and Conclusions: The results of the statistical analysis demonstrated a greater reduction in the tilt of the body's center of mass in therapy using the SPIDER system, compared to therapy in which the system was not used.

Lipoedema as a Social Problem. A Scoping Review.

(1) Background: Lipoedema is a disease characterized by excessive bilateral and symmetrical accumulation of subcutaneous tissue in the lower extremities. It is a poorly understood condition, and low awareness of its existence often leads to incorrect diagnosis Initially, lipoedema was considered to be completely independent of lifestyle Currently, however, more and more cases of the coexistence of lipoedema and obesity are described in the literature as additionally affecting the severity of the disease The aim of the review is to present lipoedema as a social problem. (2) Methods: Materials on lipoedema in the social context were selected from 2018-2021. The PRISMA-Scr checklist was used in the review. (3) Results: Research has shown that more than 3/4 of patients with lipoedema are also overweight or obese. Patients with lipoedema have many comorbidities, and their presence negatively affects the quality of life. The quality of life in patients with lipoedema is lower than in healthy patients. (4) Conclusions: The number of studies available on lipoedema is low. Obesity is common in patients with lipoedema. Mental disorders increase the level of experienced pain. Lipoedema significantly reduces quality of life. A healthy lifestyle in patients with lipoedema could be helpful for prevention of complications and disability.

Clinical Significance of Peritoneal Fluid Examination for Free Cancer Cells in Patients Qualified for Surgery for Gastric Cancer.

Background: Peritoneal lavage cytology in patients with gastric cancer may correlate with an unfavorable prognosis. This study evaluated the presence of free cancer cells in the peritoneal lavage of a population of patients with gastric cancer and its correlation with the outcome of surgical treatment. Methods: One hundred patients diagnosed with gastric or gastrointestinal junction adenocarcinoma underwent surgery. In all patients, a cytological and immunohistochemical analysis of peritoneal lavage was performed. Based on the presence of free cancer cells (fcc) at the cytological and immunohistochemical examination of peritoneal lavage, patients undergoing surgery for gastric cancer were divided into two groups: fcc (+) and fcc (-). Results: A total of 100 patients, 37 women, and 63 men with a median age of 65 years were included in the study. In the entire study group, 16 (16%) patients were positive for the presence of free cancer cells (fcc +) at peritoneal lavage examination. However, in the group of patients who underwent gastrectomy, fcc (+) was found in 10 out of 77 (13%) patients. The presence of cancer cells in peritoneal lavage was a strong predictive factor in an unfavorable outcome after surgery, and 1-year and 2-year patient survival was 34 and 0% in fcc (+) patients and 79 and 59% in fcc (-), respectively. Moreover, the presence of free cancer cells was associated with a five-fold increased risk of death within 2 years after surgery. When analyzing the group of patients undergoing R0/R1 surgery, this difference was even more significant (p < 0.0001). Conclusions: The presence of free cancer cells in peritoneal lavage may significantly affect the outcome of patients with gastric cancer. Radical surgery in patients with free cancer cells in the peritoneal lavage did not result in a survival advantage. Identification of free cancer cells could help for a better stratification of gastric cancer patients, identifying those patients who could better benefit from a radical surgical treatment, finally improving long-term survival.

Telerehabilitation of Post-Stroke Patients as a Therapeutic Solution in the Era of the Covid-19 Pandemic.

(1) Background: Due to the pandemic caused by the SARS-CoV-2 virus, rehabilitation centres have become less available for neurological patients. This is the result of efforts to physically distance society, to try to slow the spread of the pathogen. Health care facilities were mainly restricted to urgent cases, while most physiotherapy treatments, mainly for patients with chronic conditions, were suspended. Some countries have seen a reduction in acute stroke hospital admissions of from 50% to 80%. One solution to the above problem is the use of telerehabilitation in the home environment as an alternative to inpatient rehabilitation. (2) Aim of the study: The purpose of this review is to analyse the benefits and limitations of teletherapy in relation to the functional condition of post-stroke patients. (3) Methods: Selected publications from 2019 to 2021 on the telerehabilitation of stroke patients were reviewed. The review was based on the Preferred Reporting Items for Systematic Reviews and Meta-Analysis (PRISMA) checklist. (4) Results: Studies have proven that teletherapy significantly improves the functional condition of post-stroke patients, resulting in improved quality of life and faster return to independence (while maintaining maximum possible precautions related to the SARS-CoV-2 virus pandemic). (5) Conclusions: Analysis of the study results showed comparable effectiveness of rehabilitation in the tele system to inpatient therapy. However, it should be emphasised that patients undergoing telerehabilitation must meet strict conditions to be eligible for this type of treatment program. However, the strength of the evidence itself supporting the effectiveness of this method ranks low due to the limited number of randomised control trials (RCT), small number of participants, and heterogeneous trials.

Essential oils and their components in combating fungal pathogens of animal and human skin.

OBJECTIVE: The most common problems of modern medicine include fungal infections of the skin and its appendages caused by dermatomycetes, yeast-like fungi and moulds. Due to toxicity of pharmacological fungicides and promotion of ecology, natural substances with high antifungal properties are sought. Essential oils and their components show potential in this regard. MATERIAL AND METHOD: Fourteen commercial essential oils were tested for antifungal activity. The study were carried out by agar dilution method against the following fungal species: Microsporum gypseum, Microsporum canis, Trichophyton mentagrophytes, Trichophyton violaceum, Aspergillus niger, Scopulariopsis brevicaulis and (IZ 1) dog skin isolate. The minimum inhibitory concentration (MIC) and the minimum fungicidal concentration (MFC) values were determined for all tested oils and individual components of oils with the highest activity against the tested fungi. GC-MS analysis was performed for the most active oils. RESULTS: Cinnamon, thyme, clove, geranium and manuka oils were most active against the test fungi. The MIC values in the tested oils were in the range of 0.5->10µg/µl and the MFC amounted to 1.25->10µg/µl. Activity of individual components against the tested fungi strains was selective and clearly higher against dermatomycetes fungi and IZ 1 isolate. The strongest effect on dermatomycetes fungi was of cinnamaldehyde, thymol and carvacrol-with the values of 0.039-1.25µg/µl (MIC) and 0.078-1.25µg/µl (MFC). In turn, the highest activity against IZ 1 isolate was of cinnamaldehyde, eugenol, carvacrol, geraniol and thymol. Their MIC and MFC was 0.313-1.25µg/µl. CONCLUSION: The results prove the applicability of selected oils and their components as alternatives to synthetic agents in combating fungal dermatoses in animals and humans.

Metabolic fate of pregnene-based steroids in the lactonization pathway of multifunctional strain Penicillium lanosocoeruleum.

BACKGROUND: Metabolic activities of microorganisms to modify the chemical structures of organic compounds became an effective tool for the production of high-valued steroidal drugs or their precursors. Currently research efforts in production of steroids of pharmaceutical interest are focused on either optimization of existing processes or identification of novel potentially useful bioconversions. Previous studies demonstrated that P. lanosocoeruleum KCH 3012 metabolizes androstanes to the corresponding lactones with high yield. In order to explore more thoroughly the factors determining steroid metabolism by this organism, the current study was initiated to delineate the specificity of this fungus with respect to the cleavage of steroid side chain of progesterone and pregnenolone The effect of substituents at C-16 in 16-dehydropregnenolone, 16α,17α-epoxy-pregnenolone and 16α-methoxy-pregnenolone on the pattern of metabolic processing of these steroids was also investigated. RESULTS AND DISCUSSION: All of the analogues tested (except the last of the listed) in multi-step transformations underwent the Baeyer-Villiger oxidation to their δ-D-lactones. The activity of 3ß-HSD was a factor affecting the composition of the product mixtures. 16α,17α-epoxy-pregnenolone underwent a rare epoxide opening with retention stereochemistry to give four 16α-hydroxy-lactones. Apart from oxidative transformations, a reductive pathway was revealed with the unique hydrogenation of 5-ene double bond leading to the formation of 3ß,16α-dihydroxy-17a-oxa-D-homo-5α-androstan-17-one. 16α-Methoxy-pregnenolone was transformed to the 20(R)-alcohol with no further conversion. CONCLUSIONS: This work clearly demonstrated that P. lanosocoeruleum KCH 3012 has great multi-functional catalytic properties towards the pregnane-type steroids. Studies have highlighted that a slight modification of the D-ring of substrates may control metabolic fate either into the lactonization or reductive and oxidative pathways. Possibility of epoxide opening by enzymes from this microorganism affords a unique opportunity for generation of novel bioactive steroids.