Epidermolysis Bullosa-A Kindler Syndrome Case Report and Short Literature Review.

INTRODUCTION: Epidermolysis bullosa (EB) represents a group of rare disorders, genetically determined, characterized by skin fragility, blister formation and erosions due to minimal trauma. Depending on the ultrastructural level of skin cleavage, above or below the basement membrane, epidermolysis bullosa can be classified into four major types: simplex, junctional, dystrophic and Kindler Syndrome. In the junctional form of EB, the cleavage level is at the dermo-epidermal junction and the targeted proteins are laminin, type XVII collagen and integrins. The dystrophic form of EB is characterized by cleavage in the dermal layer, collagen VII being the targeted protein. In Kindler EB, multiple levels of cleavage have been described. The mutated gene is FERMT1. Another classification of this disease refers to phenotypic aspects such as extracutaneous lesions, severity, and distribution. The management of epidermolysis bullosa includes supportive wound treatments as well as nutritional support. CASE REPORT: We present a case of epidermolysis bullosa presented at birth, in a newborn with no family history of bullous skin conditions. The clinical presentation revealed extensive denuded areas and significant skin fragility as well as mucous and nail involvement. Prenatal diagnosis is very hard to achieve due to increased genetic heterogeneity of the disease. The short-term results were good. The importance of prenatal testing and possibilities of diagnosis are reviewed in this article. CONCLUSIONS: EB is a devastating disease. The presented case had a favorable evolution, with good short-term results. Significant morbidity can result from secondary infections of blisters and complications of the extracutaneous manifestations.

Case Report. Diagnostic Challenges: Liver Metastases from Mammary Gland Origin or Cholangiocarcinoma?

Liver metastases are secondary malignant tumor formations due to the dissemination of primary malignant tumors, which are often the first clinical manifestation of mammary cancer. We present the case of a 52-year-old female patient from an urban area who came to the walk-in service at the "Sf. Ap. Andrei" Emergency County Hospital, Galati, for laboratory investigations. These revealed a significant increase in CA 15-3 tumor markers and a slight increase in CA 125 and CA 19-9 markers; however, clinical examination did not reveal tumors in the breast and there were no axillary adenopathies. CT exam revealed a large tumor formation in the hepatic right lobe and, close to it, a smaller one. The mammograph showed millimetric lesions at the level of the left mammary gland and bilateral axillary adenopathies. Subsequently, the patient underwent two liver biopsies in two different hospitals, which produced different histological and immunohistochemical results. PET-CT drew attention to a lung tumor and disclosed a different origin of metastases. In the end, correlating all investigations, the final diagnosis was cholangiocarcinoma with liver metastases and lung tumor with lung and bone metastases.

Epidemiology of Injuries in Men's Professional and Amateur Football (Part I).

Background (1): Football is the most popular sport among men, associated with a certain risk of injury, which leads to short- and long-term health consequences. While the injury profile of professional footballers is known, little is known about the injury profile of amateur footballers; amateur football is a major and diverse area, the development of which should be a priority for football associations around the world and UEFA. The aim of this study was to perform a systematic review of epidemiological literature data on injuries in professional and amateur football players belonging to certain leagues. Methods (2): A systematic review according to the PRISMA guidelines was performed until June 2023 in the databases PubMed, Web of Science, Google Academic, Google Scholar, and Diva portal. Forty-six studies reporting injury incidence in professional and amateur men's football were selected and analyzed. Two reviewers independently extracted data and assessed study quality using an adapted version of the Strengthening the Reporting of Observational Studies in Epidemiology (STROBE) statement and the Newcastle Ottawa Scale (NOS) to assess risk of bias for the quality of external validity. Results (3): The overall incidence of injuries in professional male football players was 7.75 ± 2.28, 95% confidence interval, injuries/1000 h of exposure and that of amateur football players was 7.98 ± 2.95, 95% confidence interval, injuries/1000 h of exposure. The incidence of match injuries (30.64 ± 10.28, 95% confidence interval, injuries/1000 exposure hours) was 7.71 times higher than the training injury incidence rate (3.97 ± 1.35, 95% confidence interval, injuries/1000 h) in professional football players and 5.45 times higher in amateurs (17.56 ± 6.15 vs. 3.22 ± 1.4, 95% confidence interval, injuries/1000 h). Aggregate lower extremity injuries had the highest prevalence in both categories of footballers, being 83.32 ± 4.85% in professional footballers and 80.4 ± 7.04% in amateur footballers: thigh, ankle, and knee injuries predominated. Conclusions (4): Professional and amateur football players are at substantial risk of injury, especially during matches that require the highest level of performance. Injury rates have implications for players, coaches, and sports medicine practitioners. Therefore, information on football injuries can help develop personalized injury risk mitigation strategies that could make football safer for both categories of football players. The current findings have implications for the management, monitoring, and design of training, competition, injury prevention, especially severe injury, and education programs for amateur football players.

Epidemiology of Injuries in Professional and Amateur Football Men (Part II).

Background (1): Men's football is a physically demanding contact sport that involves intermittent bouts of sprinting, jogging, walking, jumping and changes of direction. The physical demands of the game vary by level of play (amateur club, sub-elite and open club or international), but injury rates at all levels of the men's football game remain the highest of all sports. Objective: The aim of this study is to conduct a systematic review of data from the epidemiological literature regarding the profile, severity and mechanisms of injuries and the frequency of recurrent injuries in professional and amateur football players. Methods (2): A systematic review, according to PRISMA guidelines, was performed up to June 2023 in the databases of PubMed, Web of Science, Google academic, Google scholar and the Diva portal. Twenty-seven studies that reported data on the type, severity, recurrence and mechanisms of injury in professional and amateur men's football were selected and analyzed. Two reviewers independently audited data and assessed the study quality using the additional and adapted version of the Strengthening the Reporting of Observational Studies in Epidemiology (STROBE) statement and the Newcastle Ottawa Scale (NOS) to assess risk of bias for the quality of external validity. Results (3): In professional male football players, the mean prevalence of muscle/tendon injuries was 39.78%, followed by joint and ligament injuries-21.13%, contusions-17.86%, and fractures-3.27%, and for amateur football players, the prevalence's were 44.56% (muscle/tendon injuries), 27.62% (joint and ligament injuries), 15.0% (contusions) and 3.05% (fracture), respectively. The frequency of traumatic injuries was higher in amateur football players (76.88%) compared to professional football players (64.16%), the situation being reversed in the case of overuse injuries: 27.62% in professional football players and 21.13% in amateur football players. Most contact injuries were found in professional footballers (50.70%), with non-contact injuries predominating in amateur footballers (54.04%). The analysis of the severity of injuries showed that moderate injuries dominated in the two categories of footballers; the severe injuries in amateur footballers exceeded the severe injuries recorded in professional footballers by 9.60%. Recurrence proportions showed an inverse relationship with the level of play, being higher in amateur footballers (16.66%) compared to professional footballers (15.25%). Conclusions (4): Football-related injuries have a significant impact on professional and amateur football players and their short- and long-term health status. Knowing the frequency of severe diagnoses, such as strains, tears and cramps of the thigh muscles, ankle ligament sprains and hip/groin muscle strain requires the establishment of adequate programs to prevent them, especially in amateur football players, who are more prone to serious injuries.

Therapeutic challenges of psoriasis in the HIV-infected patient: A case report.

Psoriasis can be paradoxically associated with human immunodeficiency virus (HIV) infection, having a prevalence similar to the general population but with a more severe evolution. In the genetically predisposed patients with the CW*0602 haplotype, HIV infection can be a triggering factor and a first sign of infection, and lesions can spontaneously remit with immune reconstruction after antiretroviral therapy. Our patient is a 34 year-old male with recent HIV infection, in spite of being for over 10 years the partner of an HIV-positive patient with whom the patient has two HIV-positive children. The patient was diagnosed with psoriasis 7 years ago and was treated topically. The physical examination at HIV diagnosis was overall favorable, with skin findings compatible with disseminated vulgar psoriasis. Following antiretroviral treatment with Triumeq the patient had a favorable viral response, with complete viral suppression after 12 weeks, but the pre-existent psoriasis lesions worsened. Methotrexate (MTX) treatment followed for 12 weeks, with partial improvement of psoriatic dermatitis. This medication was continued for 1 year, but the lesions reappeared, possibly due to treatment resistance. MTX treatment for psoriasis in the HIV-infected patient was beneficial, but limited to one year, leaving biologics as possible treatment following therapy under strict monitoring for adverse effects, T-lymphocyte CD4+ and viral levels.

Diagnostic and Management of Undescended Ovary - A Preoperative Dilemma: A Case-Based Systematic Review.

Undescended ovary (UO) is an uncommon congenital condition characterized by the presence of the adnexa above the common iliac vessels, with an estimated incidence of 0.3-2%. Because of its rarity, it is usually presented as a case report. A thorough knowledge of the ovarian embryological development is essential for the clinician, who must be warned about the possibility of associated Müllerian and renal malformations. There may be asymptomatic patients, incidentally diagnosed during infertility evaluation, but when symptoms occur, these are unspecific and most often this disorder is misdiagnosed, the accurate diagnosis being established intraoperatory. The malignant potential of an UO is accepted, although no such cases were reported. The role of the UO in infertility is still unclear, despite evidence of its normal function. Complications are linked to the ovary (cyst formation, cyst ruptures or tumors) or to the undescended fallopian tube (ectopic pregnancies). The management should be conservative, but there is no consensus about whether it is necessary to excise the ipsilateral undescended tube. We included a short case presentation of an UO cystadenoma misdiagnosed as a renal cyst, which depicts all diagnostic and management dilemmas and inspired us to write this review. The present literature review includes all the cases reported from the early 20th century to the present, with updated data about epidemiology, pathophysiology, clinical and imaging diagnosis, treatment options and prognosis of this rare condition. This paper aims to establish some directions in the diagnosis and management of similar patients and to remind us that, no matter how advanced the imaging investigation techniques might be, a correct preoperative diagnosis may often be missed.

Cutaneous adverse reactions in a lung cancer patient treated with pembrolizumab: A case report.

Lung cancer is the main cause of oncological death in the US and worldwide, constituting a significant public health problem. The incidence of lung cancer is on the increase. In the present study, the diagnostic process was carried out and treatment options were considered to determine the therapeutic response of a patient diagnosed with lung cancer. The case of an early stage lung cancer patient who benefited from surgical treatment was presented. The pathology report stated the complete diagnosis to be pleomorphic lung cancer with an adenocarcinoma component, pT2aN0M0, with focal positivity for thyroid transcription factor 1 (TTF1), without epidermal growth factor receptor (EGFR) mutations and ALK recombinations, having an initial clinical stage of IB and programmed death ligand-1 (PD-L1) positivity with a tumor proportion score of over 70%. The patient underwent radiotherapy treatment and was administered osteoclast inhibitors and immunotherapy, with no favorable therapeutic effect and with the presence of secondary cutaneous adverse effects to pembrolizumab. As a main cause of death, lung cancer registers a low general survival rate even in patients with targeted therapies or immunotherapy. By better identifying the patients at risk, one can establish a more efficient personalized treatment; the future objective of scientific studies is the follow-up of adverse effects of new therapies.

The Influence of Living in Rural Areas on the Evolution and Management of Pediatric Ovarian Cystic Lesions: A Retrospective Study on a Cohort from South Eastern Romania.

Background: The incidence of ovarian cystic lesions (OCLs) in pediatric patients has been increasing in recent years. An early diagnosis is mandatory for a favourable prognosis but it depends on the primary medical care services and on the socioeconomic status of the patient. The present study aims at assessing the prevalence and the age-specific frequencies of pediatric OCLs, as well as identifying disparities between subjects in the urban and the rural areas, in order to explore the extent to which OCLs occurrence, diagnosis, evolution and treatment differ in the case of patients living in rural areas. Methods: A 3-year retrospective study was conducted between 2017 and 2019. All the female patients aged between 0 and 18 with OCLs ≥10 mm (N = 488), diagnosed and treated at "Sf.Ioan" Clinical Emergency Hospital for Children in Galati were included in the study. The Chi2 test was used for comparing the distributions of frequencies, and the t-Student test was used for comparing the means of any two normally distributed variables. The statistical significance threshold (p) was set at 0.05. Results: The prevalence of OCLs ≥10 mm was 14.85%, 47.13% of the subjects originating in rural area (p = 0.62). Different from the urban areas, the rural ones are characterised by a lower proportion of patients with BMI ≥25 (p = 0.002), larger OCLs mean size (p = 0.278), a more frequent complex aspect on ultrasonography (p = 0.01), and a smaller number of general physician referrals (p = 0.005). Moreover, a higher proportion of rural patients were intraoperatively diagnosed with OCLs (p = 0.044), had complicated OCLs (p = 0.012) and had their OCLs surgically treated OCLs (p < 0.01). Conclusion: Taking into consideration the socio-economic situation of south eastern Romania, patients living in rural areas have proven exposed to a higher risk of presenting with larger, complex and complicated OCLs, which most often require surgical treatment.

The Role of D-Dimers in the Initial Evaluation of COVID-19.

Purpose: The COVID-19 pandemic was noted for the high degree of contagion and the large number of cases, as well as for the various clinical forms, from asymptomatic towards rapid evolution to death. The hospitals limited care capacity imposed the need to identify some markers of unfavorable evolution. The purpose of our study is to identify the parameters correlated with COVID-19 unfavorable evolution and to draw the profile of the patient at risk of unfavorable evolution. This set of parameters will help the doctor in deciding whether to hospitalize a patient and in choosing the treatment. Patients and Methods: We performed a prospective, observational, actively controlled study on 849 patients with COVID-19, hospitalized in the Second Clinic of "Sf. Cuv. Parascheva" Infectious Diseases Clinical Hospital Galati, Romania, between 1.03.2020-30.11.2020. Results: The parameters statistically significant modified at the admission of the patients with COVID-19 unfavorable evolution were age, oxygen saturation, D-dimers, creatine kinase (CK), troponin, erythrocytes sedimentation rate (ESR), leukocytes, lymphocytes, neutrophils, platelets, hemoglobin (Hb), aspartate transaminase (AST), total and direct bilirubin (TBIL, DBIL), urea, creatinine, serum glucose. Strong correlations were observed between the unfavorable evolution and the admission values of D-dimers, AST, TBIL and between D-dimers and AST, which suggests that D-dimers levels can be considered predictive for the alteration of liver function and for the negative prognosis of the patient. Conclusion: Coagulation disorders and acute respiratory failure are the prevailing causes of death from COVID-19. Together with other parameters that constitute the risk profile for severe COVID-19 evolution, the D-dimers dosing at admission proved to be extremely useful in the management of COVID-19.

Basal cell carcinoma: Comprehensive clinical and histopathological aspects, novel imaging tools and therapeutic approaches (Review).

Basal cell carcinoma (BCC) is one of the most common malignant tumors worldwide, involving the skin. It is also part of keratinocyte carcinomas, alongside its squamous counterpart. It has low mortality and extremely low metastatic rates (although when present, it indicates a poor patient prognosis); it also has a high morbidity rate through local destruction and recurrence, particularly when perineural invasion is observed, clinically or histopathologically. BCC development is the result of environmental and patient factors, with genetics and ultraviolet radiation playing major roles. The clinical and histopathological aspects vary according to tumor subtype, being classified as high-risk tumors (nodular, superficial, pigmented and infundibulocystic BCC with adnexal differentiation) and fibroepithelial subtypes, or as high-risk tumors (micronodular, infiltrating, sclerosing/morphoeic and basosquamous subtype or the type with sarcomatoid differentiation). Dermoscopy is now complimented by novel in vivo diagnostic tools (optical coherence tomography, reflectance confocal microscopy, high-resolution ultrasonography, Raman spectroscopy or terahertz pulse imaging), improving the diagnostic accuracy and providing tumor depth and lateral margins without the use of invasive techniques. Novel treatment approaches for the treatment of BCC have recently been investigated with the use of hedgehog pathway inhibitors, such as Vismodegib. These approaches aim for complete resolution, minimal side-effects, high patient satisfaction with the optimal cosmetic results, particularly in key areas, such as the face. The present review article summarizes and discusses the comprehensive clinical and histopathological aspects of BCC, and presents novel imaging tools and therapeutic approaches that have been identified.

Orthopaedic manifestations of neurofibromatosis type 1: A case report.

Neurofibromatosis type 1 (NF1) or von Recklinghausen disease is one of the most common autosomal dominant genetic diseases. It is characterized by 'café-au-lait' spots and multiple tumors starting from the central and peripheric nervous system. The diagnosis is determined on two out of seven criteria: i) A total of 6 or more light brown spots larger than 5 mm in diameter (pre-puberty) or 15 mm in diameter (post-puberty); ii) a total of 2 or more neurofibromas or one plexiform neurofibroma; iii) axillary or inguinal freckling; iv) optic glioma; v) a total of 2 or more Lisch nodules; vi) bone abnormalities: tibia pseudarthrosis or dysplasia of the sphenoid wing; and vii) a relative of first degree having an NF1 diagnosis. A total of ~50% of patients have significant musculoskeletal manifestation, with scoliosis and congenital pseudarthrosis of tibia most common. Management of the orthopaedic manifestations of NF1 is often difficult. Due to NF1 influencing multiple organ systems, patients are likely to benefit most from a multidisciplinary treatment strategy.

Rare case of metachronous tumor: Nasopharyngeal and colorectal carcinoma.

The study presents an unusual case of a patient with a personal history of a rectal malignant tumor in 2013, who after a period of 6 years, was diagnosed with an advanced nasopharyngeal carcinoma, locally and regionally invasive. It is possible that the colorectal malignant tumor affected the development of the nasopharyngeal carcinoma, or the other way around, depending on the presence of genetic instabilities. These two types of malignant tumors share a series of genes that can influence their progression, i.e., SPINK-6 and Bcl-2. The particularity of this case stems from the development of a metachronous tumor, a rectal adenocarcinoma and nasopharyngeal carcinoma, two malignant tumors with different patient prognosis and disease progression. Research needs to be continued on the multidisciplinary therapeutic management of nasopharyngeal cancer and the ways of identifying this cancer type in its early stages, considering that most patients come from a rural environment, have poor medical education, a number of comorbidities, and who frequently ignore the signs, symptoms and sometimes the treatment offered.

A Working Hypothesis on Vesicular Lesions Related to COVID-19 Infection, Koebner Phenomena Type V, and a Short Review of Related Data.

SARS-CoV-2 has recently been associated with the reactivation of varicella zoster virus in patients. This is potentially an observation of a local susceptibility of the skin in areas of vesicle formation. This article explores the dermatologic manifestations that have been linked to the SARS-CoV-2 virus, their infectious risk, as well as potential confounding factors. An isotopic response may be occurring due to the occurrence of an immunocompromised district incited by sustained inflammation mediated by inflammatory cytokines.

New Perspectives on Diagnosing Psoriatic Arthritis by Imaging Techniques.

Psoriatic arthritis is a chronic inflammatory condition that can lead to severe functional impairment and irreversible damage. The diagnosis can be difficult in early cases where the clinical exam is often scarce. The lack of a serological biomarker can lead to a considerable delay in diagnosis. In this review, we discuss the existent imaging methods that have improved the diagnosis of psoriatic arthritis (PsA). The degree and type of musculoskeletal involvement cannot be assessed by only one imaging method. We think that a combination of methods is the best approach to evaluate both structural damage and inflammatory lesions and that ultrasound (US) could be the best tool to screen a patient when considering the diagnosis of PsA. US is an accessible, non-ionizing technique that offers information regarding active inflammation in joints, entheses, and soft tissues.

[Dislypidemia as a risk factor for cardiovascular disease]. / Dislipidemia--factor determinant al cardiopatiei ischemice.

UNLABELLED: The aim of the study was to evaluate dislypidemias as risk factor in the countryside. MATERIAL AND METHOD: There have been evaluated 413 patients from the countryside (Jorasti, Galati County), in the period 2008-2010. There was performed history taking, physical examination, an ECG and biological findings (glycemia, colesterolemia, HDL-colesterolemia, trygliceridemia, creatinenemia). RESULTS: In these patients there was noticed a higher prevalence of the dislypidemias in women (65.7%) than in men (50.29%). Both dislypidemias and hypertension were more frequent in patients with cardiovascular disease or in those with high risk of cardiovascular disease than in those with a small or absent risk both in men and in women. In 208 cases there have been present all the elements of the metabolic syndrome. CONCLUSIONS: The modifiable risk factors have a very important part in the development of cardiovascular diseases in the countryside. Using proper programmes of prophylaxis there can be hope for a decrease of the morbidity and mortality of cardiovascular disease.