Fusion/fission protein family identification in Archaea.

The majority of newly discovered archaeal lineages remain without a cultivated representative, but scarce experimental data from the cultivated organisms show that they harbor distinct functional repertoires. To unveil the ecological as well as evolutionary impact of Archaea from metagenomics, new computational methods need to be developed, followed by in-depth analysis. Among them is the genome-wide protein fusion screening performed here. Natural fusions and fissions of genes not only contribute to microbial evolution but also complicate the correct identification and functional annotation of sequences. The products of these processes can be defined as fusion (or composite) proteins, the ones consisting of two or more domains originally encoded by different genes and split proteins, and the ones originating from the separation of a gene in two (fission). Fusion identifications are required for proper phylogenetic reconstructions and metabolic pathway completeness assessments, while mappings between fused and unfused proteins can fill some of the existing gaps in metabolic models. In the archaeal genome-wide screening, more than 1,900 fusion/fission protein clusters were identified, belonging to both newly sequenced and well-studied lineages. These protein families are mainly associated with different types of metabolism, genetic, and cellular processes. Moreover, 162 of the identified fusion/fission protein families are archaeal specific, having no identified fused homolog within the bacterial domain. Our approach was validated by the identification of experimentally characterized fusion/fission cases. However, around 25% of the identified fusion/fission families lack functional annotations for both composite and split states, showing the need for experimental characterization in Archaea.IMPORTANCEGenome-wide fusion screening has never been performed in Archaea on a broad taxonomic scale. The overlay of multiple computational techniques allows the detection of a fine-grained set of predicted fusion/fission families, instead of rough estimations based on conserved domain annotations only. The exhaustive mapping of fused proteins to bacterial organisms allows us to capture fusion/fission families that are specific to archaeal biology, as well as to identify links between bacterial and archaeal lineages based on cooccurrence of taxonomically restricted proteins and their sequence features. Furthermore, the identification of poorly characterized lineage-specific fusion proteins opens up possibilities for future experimental and computational investigations. This approach enhances our understanding of Archaea in general and provides potential candidates for in-depth studies in the future.

Beach wrack: Discussing ecological roles, risks, and sustainable bioenergy and agricultural applications.

The equilibrium of the marine ecosystem is currently threatened by several constraints, among which climate change and anthropogenic activities stand out. Indeed, these factors favour the growth of macroalgae, which sometimes end up stranded on the beaches at the end of their life cycle, forming what is known as beach wrack. Despite its undeniable important ecological role on beaches, as it is an important source of organic matter (OM), and provides food and habitat for several invertebrates, reptiles, small mammals, and shorebirds, the overaccumulation of beach wrack is often associated with the release of greenhouse gases, negatively impacting tourist activities, and generating economic expenses for its removal. Although currently beach wrack is mainly treated as a waste, it can be used for numerous potential applications in distinct areas. This review aimed at providing a solid point of view regarding the process of wrack formation, its spatiotemporal location, as well as its importance and risks. It also contains the current advances of the research regarding sustainable alternatives to valorise this organic biomass, that range from bioenergy production to the incorporation of wrack in agricultural soils, considering a circular economy concept. Although there are some concerns regarding wrack utilisation, from its variable availability to a possible soil contamination with salts and other contaminants, this review comprises the overall beneficial effects of the incorporation of this residue particularly in the organic agricultural model, strengthening the conversion of this wasted biomass into a valuable resource.

Advances in screening hyperthermic nanomedicines in 3D tumor models.

Hyperthermic nanomedicines are particularly relevant for tackling human cancer, providing a valuable alternative to conventional therapeutics. The early-stage preclinical performance evaluation of such anti-cancer treatments is conventionally performed in flat 2D cell cultures that do not mimic the volumetric heat transfer occurring in human tumors. Recently, improvements in bioengineered 3D in vitro models have unlocked the opportunity to recapitulate major tumor microenvironment hallmarks and generate highly informative readouts that can contribute to accelerating the discovery and validation of efficient hyperthermic treatments. Leveraging on this, herein we aim to showcase the potential of engineered physiomimetic 3D tumor models for evaluating the preclinical efficacy of hyperthermic nanomedicines, featuring the main advantages and design considerations under diverse testing scenarios. The most recent applications of 3D tumor models for screening photo- and/or magnetic nanomedicines will be discussed, either as standalone systems or in combinatorial approaches with other anti-cancer therapeutics. We envision that breakthroughs toward developing multi-functional 3D platforms for hyperthermia onset and follow-up will contribute to a more expedited discovery of top-performing hyperthermic therapies in a preclinical setting before their in vivo screening.

Prevalence of Postural Changes and Musculoskeletal Disorders in Young Adults.

BACKGROUND: Postural changes are considered a public health problem, especially those that affect the spine, as they may predispose to degenerative conditions of the spine in adulthood. Musculoskeletal disorders are the main cause of chronic pain, illness, reduced educational performance, productivity, and quality of life, and are responsible for increased absenteeism, which could compromise the future career of students. The purpose of this study was to identify the prevalence of postural changes and the occurrence of musculoskeletal disorders in different anatomical regions in the 12 months prior and 7 days prior to the application of the questionnaire and the number of affected anatomical regions. METHODS: This is an observational, descriptive, cross-sectional study. It included 508 students selected by a stratified random sample. Our outcomes were the Portuguese version of the Standardized Nordic Musculoskeletal Questionnaire, the Adam's test, a scoliometer, and the visual analog pain scale associated with the Nordic Musculoskeletal Questionnaire. RESULTS: In total, 79.3% of the students tested positive with the Adam's test. The neck, shoulder, lumbar region, and knee stood out in all of the temporal references, the 12 months prior (44.3%; 35.2%, 50.2%, 34.1%) and the 7 days prior (16.5%, 16.9%; 28.9%, 17.5%), and even in the restriction of activity due to painful symptoms in the 12 months prior (4.3%, 5.3%, 10.6%, 8.5%). CONCLUSIONS: Out of 497 students, 403 were identified with postural changes. The high prevalence rate of identified musculoskeletal symptoms in the anatomical regions of the neck, lumbar region, and shoulder raises the need for intervention in students. Gender appears to generate differences between men and women. Pain from multiple body sites is frequent among young adults.

Acute Recovery after a Fatigue Protocol Using a Recovery Sports Legging: An Experimental Study.

Enhancing recovery is a fundamental component of high-performance sports training since it enables practitioners to potentiate physical performance and minimise the risk of injuries. Using a new sports legging embedded with an intelligent system for electrostimulation, localised heating and compression (completely embodied into the textile structures), we aimed to analyse acute recovery following a fatigue protocol. Surface electromyography- and torque-related variables were recorded on eight recreational athletes. A fatigue protocol conducted in an isokinetic dynamometer allowed us to examine isometric torque and consequent post-exercise acute recovery after using the sports legging. Regarding peak torque, no differences were found between post-fatigue and post-recovery assessments in any variable; however, pre-fatigue registered a 16% greater peak torque when compared with post-fatigue for localised heating and compression recovery methods. Our data are supported by recent meta-analyses indicating that individual recovery methods, such as localised heating, electrostimulation and compression, are not effective to recover from a fatiguing exercise. In fact, none of the recovery methods available through the sports legging tested was effective in acutely recovering the torque values produced isometrically.

Microwave ablation of solitary T1N0M0 papillary thyroid carcinoma: A case report.

BACKGROUND: The gold standard treatment for papillary thyroid carcinoma is total thyroidectomy and indications for microwave thermal ablation for primary thyroid cancers have not yet been clearly established However, some patients refuse surgery and others have no indication for it, for example patients under palliative care as in this case, or cannot undergo surgery, based on their comorbidities. These indications are described in the most recent Korean, North American and European guidelines. Laser ablation, radiofrequency ablation, and microwave ablation are similarly safe and effective, so the choice should be based on the specific competences and resources of the pertaining centers. These indications are Percutaneous minimally-invasive techniques; they can be useful to stop disease progression and as an alternative to surgery in patients with contraindication or who refuse surgery. We present a case of a thyroid papillary carcinoma with 17 mm effectively treated with microwave thermal ablation and without recurrence after one year of follow up. CASE SUMMARY: The authors present a case of a 71-years-old patient with a left lobe papillary thyroid carcinoma with 13 mm × 17 mm × 13 mm, with no indication for thyroid surgery given the context of another cancer in palliative treatment. Microwave thermoablation was performed on December 2021. Four months later he repeated computed tomography (CT) scan, which showed that the tumor had disappeared. Six months after ablation he underwent a positron emission tomography/CT-fluorodeoxyglucose scan, which didn't show any evidence of hypermetabolic tumor lesions. CONCLUSION: This case shows microwave thermoablation can be a safe and effective alternative to surgery in patients with no conditions to undergo surgery or when they refuse it. By treating the tumor, with this minimally invasive technique, we are stopping its growth and avoiding disease progression.

In Campylobacter jejuni, a new type of chaperone receives heme from ferrochelatase.

Intracellular heme formation and trafficking are fundamental processes in living organisms. Bacteria and archaea utilize three biogenesis pathways to produce iron protoporphyrin IX (heme b) that diverge after the formation of the common intermediate uroporphyrinogen III (uro'gen III). In this study, we identify and provide a detailed characterization of the enzymes involved in the transformation of uro'gen III into heme in Campylobacter jejuni, demonstrating that this bacterium utilizes the protoporphyrin-dependent (PPD) pathway. In general, limited knowledge exists regarding the mechanisms by which heme b reaches its target proteins after this final step. Specifically, the chaperones necessary for trafficking heme to prevent the cytotoxic effects associated with free heme remain largely unidentified. In C. jejuni, we identified a protein named CgdH2 that binds heme with a dissociation constant of 4.9 ± 1.0 µM, and this binding is impaired upon mutation of residues histidine 45 and 133. We demonstrate that C. jejuni CgdH2 establishes protein-protein interactions with ferrochelatase, suggesting its role in facilitating heme transfer from ferrochelatase to CgdH2. Furthermore, phylogenetic analysis reveals that C. jejuni CgdH2 is evolutionarily distinct from the currently known chaperones. Therefore, CgdH2 is the first protein identified as an acceptor of intracellularly formed heme, expanding our knowledge of the mechanisms underlying heme trafficking within bacterial cells.

Stepwise pathway for early evolutionary assembly of dissimilatory sulfite and sulfate reduction.

Microbial dissimilatory sulfur metabolism utilizing dissimilatory sulfite reductases (Dsr) influenced the biochemical sulfur cycle during Earth's history and the Dsr pathway is thought to be an ancient metabolic process. Here we performed comparative genomics, phylogenetic, and synteny analyses of several Dsr proteins involved in or associated with the Dsr pathway across over 195,000 prokaryotic metagenomes. The results point to an archaeal origin of the minimal DsrABCMK(N) protein set, having as primordial function sulfite reduction. The acquisition of additional Dsr proteins (DsrJOPT) increased the Dsr pathway complexity. Archaeoglobus would originally possess the archaeal-type Dsr pathway and the archaeal DsrAB proteins were replaced with the bacterial reductive-type version, possibly at the same time as the acquisition of the QmoABC and DsrD proteins. Further inventions of two Qmo complex types, which are more spread than previously thought, allowed microorganisms to use sulfate as electron acceptor. The ability to use the Dsr pathway for sulfur oxidation evolved at least twice, with Chlorobi and Proteobacteria being extant descendants of these two independent adaptations.

Reviving the interest in the versatile drug nystatin: A multitude of strategies to increase its potential as an effective and safe antifungal agent.

Nystatin is an antifungal molecule with a remarkable yet squandered versatility. In this review, its mechanism of action is explored, along with its extensive action spectrum and toxicity. A multitude of methodologies to tackle the drug's physical and chemical hurdles are outlined along with some proven-effective strategies to increase its activity and/or decrease its toxicity. A separate detailed section focused on micro and nanotechnology solutions addresses new drug delivery systems made of polymeric, metallic or lipid materials. Although the topical route depicts greater representativeness amongst these formulations, the intravenous, dental, oral, vaginal and inhalation routes are also mentioned. The unsuccessful previous attempts at developing parenteral formulations of nystatin or even the withdrawal of a nystatin-loaded multilamellar liposome should not divert research away from this drug. In fact, the interest in nystatin ought to be reawakened with the ongoing clinical trials on the promising nystatin-like genetically engineered derivate BSG005.

Evolution and immunopathology of chikungunya virus informs therapeutic development.

Chikungunya virus (CHIKV), a mosquito-borne alphavirus, is an emerging global threat identified in more than 60 countries across continents. The risk of CHIKV transmission is rising due to increased global interactions, year-round presence of mosquito vectors, and the ability of CHIKV to produce high host viral loads and undergo mutation. Although CHIKV disease is rarely fatal, it can progress to a chronic stage, during which patients experience severe debilitating arthritis that can last from several weeks to months or years. At present, there are no licensed vaccines or antiviral drugs for CHIKV disease, and treatment is primarily symptomatic. This Review provides an overview of CHIKV pathogenesis and explores the available therapeutic options and the most recent advances in novel therapeutic strategies against CHIKV infections.

Accumulation of Proline in Plants under Contaminated Soils-Are We on the Same Page?

Agricultural soil degradation is occurring at unprecedented rates, not only as an indirect effect of climate change (CC) but also due to intensified agricultural practices which affect soil properties and biodiversity. Therefore, understanding the impacts of CC and soil degradation on plant physiology is crucial for the sustainable development of mitigation strategies to prevent crop productivity losses. The amino acid proline has long been recognized for playing distinct roles in plant cells undergoing osmotic stress. Due to its osmoprotectant and redox-buffering ability, a positive correlation between proline accumulation and plants' tolerance to abiotic stress has been pointed out in numerous reviews. Indeed, proline quantification is used systematically by plant physiologists as an indicator of the degree of tolerance and a measurement of the antioxidant potential in plants under stressful conditions. Moreover, the exogenous application of proline has been shown to increase resilience to several stress factors, including those related to soil degradation such as salinity and exposure to metals and xenobiotics. However, recent data from several studies often refer to proline accumulation as a signal of stress sensitivity with no clear correlation with improved antioxidant activity or higher stress tolerance, including when proline is used exogenously as a stress reliever. Nevertheless, endogenous proline levels are strongly modified by these stresses, proving its involvement in plant responses. Hence, one main question arises-is proline augmentation always a sign of improved stress resilience? From this perspective, the present review aims to provide a more comprehensive understanding of the implications of proline accumulation in plants under abiotic stress induced by soil degradation factors, reinforcing the idea that proline quantification should not be employed as a sole indicator of stress sensitivity or resilience but rather complemented with further biochemical and physiological endpoints.

Tibialis posterior muscle stiffness assessment in flat foot subjects by ultrasound based Shear-Wave Elastography.

BACKGROUND: Few methodologies are used to assess Tibialis Posterior muscle stiffness. Those present limitations leading to a lack of evidence. Muscle stiffness assessment can help in the injuries risk factors identification while coupling with Ultrasound based Shear-Wave Elastography for its management. However, a precise and reliable methodology needs to be utilized to increase stiffness accuracy among the entire Tibialis Posterior muscle. Therefore, this study aims to investigate the stiffness association between Tibialis posterior deep and superficial layer and between flat and neutral footed subjects. METHODS: The sample consisted of 18 participants, where 9 subjects represent the flatfoot group and 9 the neutral foot group. Only the subjects who presented a Navicular Drop Test value of > 9 mm were included in the flatfooted group. All participants were submitted to the Tibialis posterior stiffness assessment with the help of Ultrasound base Shear-Wave Elastography in a lying supine position. Association between Tibialis Posterior deep and superficial layers were determined by Pearson's correlation analysis and group differences were assessed using the U-Mann Whitney test in the comparison between flat foot and neutral foot group (p < 0.05). RESULTS: No significant correlations between Tibialis Posterior layers stiffness were found (p = 0.194), nor in the comparison between both neutral and flat foot groups (p = 0.424/p = 0.258). CONCLUSION: Among participants, no associations between tibialis posterior layers stiffness were found. Also, we did not find any differences in the stiffness between flat and neutral foot groups. In this study, the stiffness did not differentiate flat-footed subjects from neutral subjects.

Is there a time window for MRI in Wernicke encephalopathy - a decade of experience from a tertiary hospital.

OBJECTIVE: Wernicke encephalopathy (WE) is a neuropsychiatric syndrome caused by thiamine deficiency. Despite its low sensitivity, brain magnetic resonance imaging (MRI) is the most useful diagnostic technique. Our aim was to investigate whether the timing of the imaging study, and thiamine replacement can influence brain MRI findings in these patients. METHODS: Retrospective observational study of hospitalized patients between January/2008 and December/2020 with a clinical diagnosis of WE. Data from clinical presentation, diagnostic features, therapeutic approach, and outcomes were collected. RESULTS: We identified 41 patients (55 ± 13.3 years) with WE. Brain MRI was performed in 36 patients, and one third had T2/FLAIR hyperintensities suggestive of WE. We found an association between a history of poor diet and periventricular hyperintensities (p = 0.023), especially on the ventral surface of the thalamus and the periaqueductal region. It was found that the odds of having a typical imaging of WE decreased by 5.3% for each additional unit (100 mg) of thiamine administered (p = 0.046) (95% CI [0.89, 0.99]). On the other hand, the number of days from clinical presentation was not found to be a viable predictor (p = 0.254) (95% CI [0.88, 1.03]) Recovery was positively correlated with the total dose of thiamine received until discharge (p = 0.020). CONCLUSIONS: MRI hyperintensities seem to be dependent on the timing of thiamine correction and, particularly, on the thiamine dosage prescribed at admission. Nevertheless, thiamine replacement should not be delayed, as its timely prescription is associated with a better prognosis at discharge.

Modular structure of complex II: An evolutionary perspective.

Succinate dehydrogenases (SDHs) and fumarate reductases (FRDs) catalyse the interconversion of succinate and fumarate, a reaction highly conserved in all domains of life. The current classification of SDH/FRDs is based on the structure of the membrane anchor subunits and their cofactors. It is, however, unknown whether this classification would hold in the context of evolution. In this work, a large-scale comparative genomic analysis of complex II addresses the questions of its taxonomic distribution and phylogeny. Our findings report that for types C, D, and F, structural classification and phylogeny go hand in hand, while for types A, B and E the situation is more complex, highlighting the possibility for their classification into subgroups. Based on these findings, we proposed a revised version of the evolutionary scenario for these enzymes in which a primordial soluble module, corresponding to the cytoplasmatic subunits, would give rise to the current diversity via several independent membrane anchor attachment events.

Relatório de Estágio da Unidade Curricular Estágio de Natureza Profissional em Enfermagem de Cuidados de Saúde à Família, em contexto USF/UCSP / Internship Report of the Curricular Unit Internship of Professional Nursing in Family Health Care in a USF/UCSP context

Enquadramento: Este relatório refere-se ao estágio de natureza profissional e integra um trabalho de investigação, com relevância para a prática clínica de enfermagem de saúde familiar, acerca da problemática da parentalidade na adolescência. A adolescente não se encontra preparada para a dupla transição com que se depara, necessitando de forte suporte por parte dos profissionais de saúde e família no desenvolvimento pessoal e no desempenho do papel parental. Objetivos: Analisar as competências desenvolvidas no estágio e mapear o papel do enfermeiro de família na construção da parentalidade em adolescentes. Metodologia: Realizou-se uma análise crítico-reflexiva sobre as competências desenvolvidas no estágio e desenvolveu-se uma revisão sistemática da literatura. A revisão sistemática da literatura incluiu todos os tipos de estudos, publicados nas bases de dados científicos CINAHL Complete, MEDLINE Complete, Nursing & Allied Health Collection, MedicLatina e PubMed Central, entre janeiro de 2017 e dezembro de 2021, e triados de acordo com o Preferred Reporting Items for Systematic Reviews and Meta-Analysis. Os resultados foram extraídos e sintetizados na forma de tabelas e de resumo narrativo. Resultados: O estágio possibilitou o desenvolvimento das competências do Enfermeiro Especialista em Enfermagem Comunitária, na Área de Enfermagem de Saúde Familiar. Foram incluídos quatro estudos na revisão sistemática da literatura. Os estudos reconheceram o papel do enfermeiro de família como mediador da construção da parentalidade em adolescentes. Três estudos propuseram a visitação domiciliária como estratégia de intervenção de enfermagem de apoio à parentalidade em adolescentes. Os programas sustentados na intensiva visitação domiciliária proporcionaram o aprimoramento do apego materno-infantil, a promoção do desenvolvimento infantil e a melhoria do ambiente familiar. Conclusão: Os achados da revisão sistemática da literatura afirmam que o enfermeiro de família, ao implementar intervenções que ampliam a competência parental, pode afetar a trajetória das adolescentes e suas famílias.

Background: This report relates to the professional internship and integrates a research study, with relevance to the clinical practice of family health nursing, on the issue of parenthood in adolescence. The adolescent is not prepared for the double transition she faces, requiring strong support from health and family professionals in her personal development and performance of the parental role. Objectives: To analyse the skills developed during the internship and map the role of family nurses in the construction of parenthood in adolescents. Methodology: A critical-reflective analysis was conducted on the competencies developed during the internship and a systematic literature review was developed. The systematic literature review included all types of studies, published in the scientific databases CINAHL Complete, MEDLINE Complete, Nursing & Allied Health Collection, MedicLatina and PubMed Central, between January 2017 and December 2021, and screened according to the Preferred Reporting Items for Systematic Reviews and Meta-Analysis. Results were extracted and synthesized in the form of tables and narrative summary. Results: The internship enabled the development of the skills of the Specialist Nurse in Community Nursing, in the Area of Family Health Nursing. Four studies were included in the systematic literature review. The studies recognised the role of the family nurse as a mediator in the construction of parenthood in adolescents. Three studies proposed home visitation as a nursing intervention strategy to support parenthood in adolescents. Os programas sustentados na intensiva visitação domiciliária proporcionaram o melhormento do apego materno-infantil, a promoção do desenvolvimento infantil e a melhoria do ambiente familiar. Conclusion: The findings of the systematic literature review affirm that the family nurse, by implementing interventions that expand parental competence, can affect the trajectory of adolescents and their families.

Lower Limbs Wearable Sports Garments for Muscle Recovery: An Umbrella Review.

This review aims to understand the different technologies incorporated into lower limbs wearable smart garments and their impact on post-exercise recovery. Electronic searches were conducted in the PubMed, Web of Science, and Cochrane electronic databases. Eligibility criteria considered meta-analyses that examined the effects of wearable smart garments on physical fitness in healthy male and female adults. Seven meta-analyses were considered in the current umbrella review, indicating small effects on delayed-onset muscle soreness ([0.40-0.43]), rate of perceived exertion (0.20), proprioception (0.49), anaerobic performance (0.27), and sprints ([0.21-0.37]). The included meta-analyses also indicated wearable smart garments have trivial to large effects on muscle strength and power ([0.14-1.63]), creatine kinase ([0.02-0.44]), lactate dehydrogenase (0.52), muscle swelling (0.73), lactate (0.98) and aerobic pathway (0.24), and endurance (0.37), aerobic performance (0.60), and running performance ([0.06-6.10]). Wearing wearable smart garments did not alter the rate of perceived exertion and had a small effect on delayed-onset muscle soreness. Well-fitting wearable smart garments improve comfort and kinesthesia and proprioception and allow a reduction in strength loss and muscle damage after training and power performance following resistance training or eccentric exercise.

Late onset neuromyelitis optica spectrum disorders (LONMOSD) from a nationwide Portuguese study: Anti-AQP4 positive, anti-MOG positive and seronegative subgroups.

INTRODUCTION: Several neuroimmunological disorders have distinct phenotypes according to the age of onset, as in multiple sclerosis or myasthenia gravis. It is also described that late onset NMOSD (LONMOSD) has a different phenotype. OBJECTIVE: To describe the clinical/demographic characteristics of the LONMOSD and distinguish them from those with early onset (EONMOSD). METHODS: From a nationwide Portuguese NMOSD study we analyzed the clinical/demographic characteristics of the LONMOSD. RESULTS: From the 180 Portuguese patients 45 had disease onset after 50 years old, 80% were female. 23 had anti-AQP4 antibodies (51.1%), 13 anti-MOG antibodies (28.9%) and 9 were double seronegative (20.0%). The most common presenting phenotypes in LONMOSD were transverse myelitis (53.3%) and optic neuritis (26.7%), without difference from EONMOSD (p = 0.074). The mean EDSS for LONMOSD was 6.0 (SD=2.8), after a mean follow-up time of 4.58 (SD=4.47) years, which was significantly greater than the mean EDSS of EONMOSD (3.25, SD=1.80)(p = 0.022). Anti-AQP4 antibodies positive LONMOSD patients had increased disability compared to anti-MOG antibodies positive LONMOSD (p = 0.022). The survival analysis showed a reduced time to use a cane for LONMOSD, irrespective of serostatus (p<0.001). CONCLUSIONS: LONMOSD has increased disability and faster progression, despite no differences in the presenting clinical phenotype were seen in our cohort.

Qualitative evaluation of the role of RTTs IGRT specialists and their influence on treatment delivery.

Purpose: The study aims to investigate qualitatively how Radiation Therapist IGRT specialists (RTT spIGRTs) experience their role and whether they have an impact on the treatment delivery. Methods: Eleven RTTs, i.e. six RTT spIGRTs and five RTTs not specialised in IGRT (RTTs noIGRT) were interviewed during October and November 2020. RTTs noIGRT having knowledge of the daily practice before and after the creation of this RTT spIGRT role, served as control group capable of weighing its impact on the work environment. A qualitative method using face-to-face semi-structured questionnaires was used. Interviews lasted approximately 10-20 min, and were after coded and analysed for thematic content. Results: Five themes and twelve sub-themes were drawn from the analysis. RTT spIGRTs experience their role positively, despite the limited role perception and different work experiences. The implemented role increased autonomy and facilitated decision-making and Radiotherapy (RT) treatment delivery.Interviewees considered the new role useful to very useful. The raised concerns are related to a bigger role involvement and improvement, with focus on visibility, regular meetings and training. Interviewees considered the RTT spIGRT role to have an influence on the treatment delivery when properly carried out. Conclusion: RTT spIGRTs experience their role positively. Their knowledge confidence seems to rely on the training received. The RTT spIGRT role is perceived to have a positive influence on the treatment delivery. Continuous follow up and training were amongst the suggested solutions to improve the RTT spIGRT's role. This study stresses the urgent need for a legal framework to provide formal RTT training and continuous education in order to increase RT treatment quality.

Congenital adrenal hyperplasia in adolescence - a gynecological perspective.

OBJECTIVES: Analysis of congenital adrenal hyperplasia (CAH) cases, gynaecological implications, referral reasons to gynaecologist and treatment. MATERIAL AND METHODS: Retrospective, longitudinal, single-centre study with female CAH paediatric patients ≥ 10 years-old, followed between 1998-2018 in gynaecology and endocrinology departments at a public university tertiary hospital. RESULTS: 47 patients, 34.0% (n = 16) with classic, 66.0% (n = 31) with non-classic forms (NCAH), CYP21 deficit and 46,XX karyotype. We found a normal median menarche age (11.5 IQR 2 [6-15] years-old), but significantly earlier in NCAH (p = 0.003). Precocious puberty occurred in 48.9%, n = 23. Primary amenorrhea occurred in salt-wasting form (21.4%, n = 3). Oligomenorrhea and hirsutism were significantly more prevalent in NCAH (p = 0.018, p = 0.014 respectively) and acanthosis nigricans and virilization signs in classic forms (p = 0.05, p = 0.000 respectively). Sixteen patients (34.0%) were referred to gynaecology, mostly due to menstrual irregularities (50.0%, n = 8). Medical treatment with isolated or combined corticoids, oestrogen and progestogen were chosen in all but one case. Gonadotropin-releasing hormone analogues were used in 19.0% (n = 9). Surgery was performed in 34.0% (n = 16) patients, median age 2.0 IQR 2.5 (0.6-90) years-old. CONCLUSIONS: This paper highlights the importance of a multidisciplinary approach. Early treatment contributes to a phenotypical feminine differentiation and normalization of the hypothalamus-pituitary-ovarian axis, which is essential given the gynaecologic and obstetric consequences of untreated cases.

Emborrhoid technique performed on a patient with portal hypertension and chronic hemorrhoidal bleeding as a salvage therapy.

BACKGROUND: Hemorrhoidal disease most commonly manifests itself with chronic rectal bleeding and, in its most severe and refractory forms, may lead to chronic anaemia with the need for recurrent blood transfusions. The main pathogenetic mechanism involved seems to be arterial hyperflux in the terminal branches that supply the hemorrhoidal plexus. It is based on this principle, that embolization of the superior rectal artery (emborrhoid technique) has recently re-emerged, with very promising results that support its feasibility, treatment efficacy, and safety. CASE PRESENTATION: We report a case of a patient with both recurrent hemorrhoidal bleeding and portal hypertension with rectal varices, who underwent SRA embolization as a salvage therapy, with significant clinical improvement and no immediate or short-term complications. CONCLUSIONS: We believe that the positive results from our case raise the possibility that the emborrhoid technique could be effective and safe even in patients with portal hypertension, and that it would be clinically relevant to investigate this hypothesis on larger samples with a longer follow-up.