Carney complex: a case report of bilateral breast myxoid fibroadenomas.

Carney complex is a rare autosomal dominant familiar multiple neoplasia syndrome combined with cardiocutaneous manifestations. Our report describes a Carney complex case with bilateral myxoid fibroadenomas that led to a bilateral mastectomy. An 18-year-old female patient presented at our clinic with complaints of multiple palpable lumps in her breasts bilaterally. On physical examination the patient had also multiple pigmented lentiginous lesions on her face, body and her sclerae, blue nevi on her trunk and upper extremities and a round moon-shaped face. The diagnosis of Carney syndrome was decided upon imaging, biopsies and genetic analysis. The patient underwent a bilateral mastectomy as a prophylactic treatment plan with tissue expanders' placement. Breast myxomatosis due to Carney complex is a common characteristic in female patients. Prophylactic mastectomy must be considered as a therapeutic intervention in these cases since it provides a definite treatment, with minimal side effects and excellent outcomes.

Telemedicine in diabetic ulcer management: A pilot study with exploration of medico-legal aspects.

BACKGROUND AND AIMS: This study aimed to evaluate the quality and efficiency of telemedicine in managing patients with chronic diabetic ulcers and provide an overview of the main medico-legal implications associated with telemedicine management of diabetic foot complications. METHODS AND RESULTS: A total of 50 patients with type 2 diabetes mellitus were enrolled from a diabetic foot outpatient clinic in Cyprus between March and May 2022. Participants completed a survey concerning telemedicine services, and the demographic variables and average responses to the PACIC (Patient Assessment of Chronic Illness Care) questions were examined using descriptive analysis. The majority of patients (84%) were male, with a mean age of 60.9 ± 13.05 years. The average PACIC score was 4.42 (min. 2.7 and max. 5.0). Voice calls were the most preferred method of telemedicine delivery, accounting for 53% of all services. CONCLUSION: Telemedicine can effectively manage chronic patients, such as those with diabetic ulcers, by reducing the burden on resources and maintaining service quality. However, healthcare professionals must be well-versed in medico-legal implications to adhere to legal and ethical guidelines, protect patient privacy, and maintain high standards of care while using telemedicine for chronic condition treatment.

A Modified Dissection of the Superomedial Pedicle.

Background: The superomedial pedicle is a widely used technique in mammaplasty, with various modifications formed over the years. This technique is often used in patients requiring major reduction in size, and optimization of the steps involved in the technique during the operation is of utmost importance to the plastic surgeon. Methods: We included 27 female patients who underwent mammaplasty between January 2018 and December 2020, with the modified superomedial pedicle technique. The technique of dissection is described in detail, by changing some of the steps of the pedicle dissection. We then assessed for patient satisfaction, complication rate, and operative duration, compared with a control group of 27 patients who underwent superomedial pedicle mammaplasty without the modification. Result: The use of this technique resulted in major reduction in operative time, with a similar complication rate and a high satisfaction rate among the patients. Conclusion: By changing some of the steps in the dissection of the superomedial pedicle, the surgeon can achieve optimal results and safety, with major gain in operative time reduction and surgical flexibility.

Use of an Online Platform to Evaluate the Impact of Social Distancing Measures on Psycho-Physical Well-Being in the COVID-19 Era.

Background: The SARS-CoV-2 pandemic (Severe Acute Respiratory Syndrome Coronavirus 2) and the worldwide health crisis have significantly changed both people's habits and lifestyles. Most of the studies found in the literature were carried out on specific professional categories in the socio-health sector, taking into consideration psychological disorders in relation to work. The purpose of this study was to analyze the psychological impact on a portion of the normal population subjected to lockdown. Methods: A questionnaire was distributed in the period between 23 March 2020 and 18 May 2020 (during Italian lockdown) using an online platform. The scales GAD-7, IES-r, PHQ-9 and MANSA were used to investigate the level of anxiety, the presence of post-traumatic stress disorder, the severity of depression and the perceived quality of life, respectively. Results: Four hundred and eight Italian subjects responded. Females and younger people were more affected by anxiety and depression. Post-traumatic stress disorder affected about 40% of the population sample, significantly young people and women, thus attesting to an important psychopathological response. About one-fifth of the sample population recorded an unsatisfactory quality of life. Conclusions: The results highlight the need to set up preventive interventions (primary and secondary), trying to focus on the most fragile group of subjects from a psychosocial point of view, in order to obtain a significant reduction in psychophysical damage in terms of relapses and outcomes.

Telemedicine in the COVID-19 Era: A Narrative Review Based on Current Evidence.

During the recent COVID-19 pandemic, healthcare providers have been encouraged to increase their use of telemedicine and to adopt telemedicine platforms for the majority of their clients who have chronic illnesses. Due to the outbreak itself, almost all countries worldwide were placed under emergency lockdowns. In this paper, we reviewed the literature regarding the use of telemedicine during the COVID-19 pandemic. Consequentially, we identified the adoption of telemedicine in various countries worldwide and evaluated their future steps in order to increase the adoption of e-health technologies. As a result of COVID-19, the e-health agenda, especially telemedicine, has been accelerated in several countries. COVID-19 is affecting individuals' daily lives and has created major difficulties in the management of healthcare facilities for both infected and non-infected patients. A large portion of the rapid increase in the use of telemedicine can be attributed to evidence from previous pandemics as well as progress made by the field in response to COVID-19, especially in industrialized countries. A lack of effective treatment, large numbers of unvaccinated individuals, as well as social distancing and lockdown measures suggest telemedicine is the safest and most appropriate way of working with patients and doctors. In spite of this willingness, a large number of barriers need to be overcome in order for the telemedicine system to function properly and effectively throughout countries. In order for telemedicine to be sustainable and beneficial beyond the pandemic, several technical, educational, infrastructure, legal, and economic issues must be addressed and solved.

Survival of umbilicus on a superiorly based flap after fleur-de-lis abdominoplasty: A case report.

INTRODUCTION: Massive weight loss patients have a midline excess of abdominal adipose and skin tissue that contributes to an increased abdominal girth. This excess of tissue in these patients is not resolved with traditional techniques of abdominoplasty and usually the fleur-de-lis abdominoplasty technique is employed. PATIENT CONCERNS: A 22-year-old male patient came to our clinic after a massive weight loss of 170 kg, requesting an abdominoplasty for the excess adipose and skin tissue. DIAGNOSIS: Massive weight loss patient, with excess of adipose and skin tissue in the midline abdominal area. INTERVENTIONS: Fleur-de-lis abdominoplasty technique was employed for treatment of massive weight loss. OUTCOMES: During the surgery, it was decided that the umbilicus blood supply via the inferior epigastric artery and median umbilical ligament needed to be ligated, to remove more tissue for better aesthetic result. The umbilicus survived on the collateral blood supply from ligamentum teres and superior epigastric collaterals. CONCLUSION/LESSONS: In this case report we review our experience treating a massive weight loss patient using a fleur-de-lis abdominoplasty technique without preserving the umbilicus blood supply via the inferior epigastric artery and median umbilical ligament. We eventually relied on the collateral blood supply from ligamentum teres and superior epigastric collaterals, something that proved advantageous both in the survival of the umbilicus on the long run despite cutting off the main blood supply, and, the removal of further excess adipocutaneous tissue for a better aesthetic outcome.

Hypersensitivity reaction to hyaluronic acid dermal filler after the Pfizer vaccination against SARS-CoV-2.

The ongoing vaccination program in the control of novel coronavirus (COVID-19)is providing an opportunity to public health authorities to emerge from the current pandemic crisis.Covid vaccination which protects from getting Covid  may have some minor side effects and in rare cases was accompanied by severe or immediate reactions. The development of hyaluronic acid soft tissue filler delayed inflammatory reactions following COVID-19 vaccination was reported.  Treatments based on hyaluronic acid represent one of the most largely used practice of aesthetic medicine. In this we present a case of a 38-year-old female patient with a confirmed hypersensitivity reaction after having the BNT162b2 vaccine (Pfizer, USA). This case indicates that an adequate patient knowledge prior to hyaluronic acid injections to avoid adverse effect of a delayed-type hypersensitivity response after COVID-19 vaccination is desirable.

In silico identification and three-dimensional modelling of the missense mutation in ADAMTS2 in a sheep flock with dermatosparaxis.

BACKGROUND: Dermatosparaxis (Ehlers-Danlos syndrome in humans) is characterized by extreme fragility of the skin. It is due to the lack of mature collagen caused by a failure in the enzymatic processing of procollagen I. We investigated the condition in a commercial sheep flock. HYPOTHESIS/OBJECTIVES: Mutations in the ADAM metallopeptidase with thrombospondin type 1 motif, 2 (ADAMTS2) locus, are involved in the development of dermatosparaxis in humans, cattle and the dorper sheep breed; consequently, this locus was investigated in the flock. ANIMALS: A single affected lamb, its dam, the dam of a second affected lamb and the rams in the flock were studied. METHODS: DNA was purified from blood, PCR primers were used to detect parts of the ADAMS2 gene and nucleotide sequencing was performed using Sanger's procedure. Skin samples were examined using standard histology procedures. RESULTS: A missense mutation was identified in the catalytic domain of ADAMTS2. The mutation is predicted to cause the substitution in the mature ADAMTS2 of a valine molecule by a methionine molecule (V15M) affecting the catalytic domain of the enzyme. Both the 'sorting intolerant from tolerant' (SIFT) and the PolyPhen-2 methodologies predicted a damaging effect for the mutation. Three-dimensional modelling suggested that this mutation may alter the stability of the protein folding or distort the structure, causing the protein to malfunction. CONCLUSIONS AND CLINICAL IMPORTANCE: Detection of the mutation responsible for the pathology allowed us to remove the heterozygote ram, thus preventing additional cases in the flock.

Identification of Legionella spp. in Environmental Water Samples by ScanVIT-Legionella™ Method in Spain.

Rapid and more sensitive methods for the detection and quantification of viable Legionella cells have been developed. In this paper, a comparative analysis of environmental water samples using the ScanVIT-Legionella™ method and the traditional "gold standard" method of culturing is realised indicating the usefulness of the ScanVIT method. The ScanVIT-Legionella™ method was performed on environmental water samples from different locations of Huesca region (Spain). Legionella micro-colonies should appear green colour and Legionella pneumophila micro-colonies appear red. Twenty-one environmental water samples analysed by standard culture plus five control samples (Two sterile water samples with Legionella as positive controls and three sterile water samples as negative controls). All of them were used to apply ScanVIT-Legionella™ method. From of 21 environmental samples eleven were positive, six negative with both methods and four samples were negative for culture method and positive for ScanVIT-Legionella™ method. The positive control samples were positive and the negative were negative for both methods. A comparative analysis of the results obtained with two methods showed a strong positive determination coefficient (R(2) = 0.99753). The results demonstrate the usefulness of the ScanVIT-Legionella™ method as a rapid diagnostic tool in order to provide a diagnosis as quick as possible. ScanVIT-Legionella™ method offers a series of advantages such as quickly diagnosis, higher sensitivity and the possibility to identify Legionella spp. and L. pneumophila simultaneously.

Effects of dredging in Göteborg harbor, Sweden, assessed by biomarkers in eelpout (Zoarces viviparus).

We used a battery of biomarkers in fish to study the effects of the extensive dredging in Göteborg harbor situated at the river Göta alv estuary, Sweden. Eelpout (Zoarces viviparus) were sampled along a gradient into Göteborg harbor, both before and during the dredging. Biomarker responses in the eelpout before the dredging already indicated that fish in Göteborg harbor are chronically affected by pollutants under normal conditions compared to those in a reference area. However, the results during the dredging activities clearly show that fish were even more affected by remobilized pollutants. Elevated ethoxyresorufin-O-deethylase activities and cytochrome P4501A levels indicated exposure to polycyclic aromatic hydrocarbons. Elevated metallothionein gene expression indicated an increase in metal exposure. An increase in general cell toxicity, measured as a decrease in lysosomal membrane stability, as well as effects on the immune system also could be observed in eelpout sampled during the dredging. The results also suggest that dredging activities in the Göta alv estuary can affect larger parts of the Swedish western coast than originally anticipated. The present study demonstrates that the application of a set of biomarkers is a useful approach in monitoring the impact of anthropogenic activities on aquatic environments.

Characterisation of DNA probes for the analysis of metallothionein gene expression in the bank vole (Clethrionomys glareolus).

DNA probes have been developed for subsequent use in monitoring the exposure of animals to heavy metal pollution in terrestrial environments using metallothionein (MT) gene expression in the bank vole (Clethrionomys glareolus). Three different bank vole sequences were characterised corresponding to the cDNA and the genomic DNA for MT-I and the genomic DNA for MT-II. Nucleotide sequence analysis indicates that the coding sequences of the bank vole MT-I and MT-II genes exhibit a very high degree of similarity (greater than 92%) to the corresponding genes of the Chinese hamster, the mouse and the rat. In common with other mammalian MT genes, both the MT-I and MT-II genes in the bank vole are interrupted by two introns, which are at identical positions as those in other rodent MT genes; furthermore, the sizes of these introns are similar to those in other rodents with the first intron being larger than the second and those in the MT-I gene being larger than those in the MT-II gene. The predicted amino acid sequence for the proteins shows that both proteins contain 20 cysteine residues at positions identical to those in other known mammalian MTs. The availability of these DNA sequences now provides a good opportunity to investigate MT gene expression and possible gene amplification in bank voles exposed to metal pollution.