Yeasts are unicellular fungi that occur in a wide range of ecological niches, where they perform numerous functions. Furthermore, these microorganisms are used in industrial processes, food production, and bioremediation. Understanding the physiological and adaptive characteristics of yeasts is of great importance from ecological, biotechnological, and industrial perspectives. In this context, we evaluated the abilities to assimilate and ferment different carbon sources, to produce extracellular hydrolytic enzymes, and to tolerate salt stress, heavy metal stress, and UV-C radiation of two isolates of Eremothecium coryli, isolated from Momordica indica fruits. The two isolates were molecularly identified based on sequencing of the 18S-ITS1-5.8S-ITS2 region. Our isolates were able to assimilate nine carbon sources (dextrose, galactose, mannose, cellobiose, lactose, maltose, sucrose, melezitose, and pectin) and ferment three (glucose, maltose, and sucrose). The highest values of cellular dry weight were observed in the sugars maltose, sucrose, and melezitose. We observed the presence of hyphae and pseudohyphae in all assimilated carbon sources. The two isolates were also capable of producing amylase, catalase, pectinase, and proteases, with the highest values of enzymatic activity found in amylase. Furthermore, the two isolates were able to grow in media supplemented with copper, iron, manganese, nickel, and zinc and to tolerate saline stress in media supplemented with 5% NaCl. However, we observed a decrease in CFU at higher concentrations of these metals and NaCl. We also observed morphological changes in the presence of metals, which include changes in cell shape and cellular dimorphisms. The isolates were sensitive to UV-C radiation in the shortest exposure time (1 min). Our findings reinforce the importance of endophytic yeasts for biotechnological and industrial applications and also help to understand how these microorganisms respond to environmental variations caused by human activities.

• MeSH
• Endophytes * isolation & purification   genetics   metabolism   physiology   classification   radiation effects   MeSH
• Fermentation MeSH
• Phylogeny MeSH
• Stress, Physiological * MeSH
• Carbohydrate Metabolism * MeSH
• Fruit * microbiology   MeSH
• Saccharomycetales * isolation & purification   genetics   physiology   metabolism   radiation effects   classification   MeSH
• Metals, Heavy toxicity   MeSH
• Ultraviolet Rays MeSH
• Publication type
• Journal Article MeSH

Cantrellova pentalogie je vzácný syndrom spojený s embryologickou vadou střední linie zahrnující řadu malformací: anomálie dolní části hrudní kosti, přední části bránice, srdce a přední části břišní stěny. Lze jej klasifikovat jako úplný, pravděpodobný nebo částečný, ale nejdůležitější je popsat a pochopit příslušné anomálie. Popisujeme případ pozdní diagnózy Cantrellovy pentalogie v 35. týdnu a 5 dnech těhotenství u ženy z vnitrozemí státu Pará v brazilské Amazonii. Fetální echokardiografie potvrdila diagnózu Cantrellovy pentalogie s Fallotovou tetralogií a ultrazvukové vyšetření ukázalo oboustranný talipes. Císařský řez byl proveden ve 36. týdnu z důvodu preeklampsie superponované na chronickou arteriální hypertenzi se známkami závažného průběhu. Novorozenec mužského pohlaví se narodil s hmotností 2 320 g. Postnatální echokardiografie potvrdila diagnózu Cantrellovy pentalogie a karyotyp byl normální (46, XY). Novorozenec byl propuštěn ve 47 dnech věku s dobrým hmotnostním přírůstkem, umělým kojením a ambulantním sledováním kardiologem a kardiochirurgem.

Cantrell’s pentalogy is a rare syndrome associated with a midline embryological defect involving a series of malformations: anomalies of the lower sternum, anterior diaphragm, heart, and anterior abdominal wall. It can be classified as complete, probable or partial, but the most important thing is to describe and understand the anomalies involved. We describe a case of a late diagnosis of Cantrell’s pentalogy at 35 weeks and 5 days of pregnancy in a woman from the interior of Pará state, an Amazon Brazilian region. Fetal echocardiography confirmed the diagnosis of Cantrell’s pentalogy with tetralogy of Fallot and ultrasound examination showing a bilateral clubfoot. Cesarean section was performed at 36 weeks because of pre-eclampsia superimposed on chronic arterial hypertension with signs of severity. The male newborn was delivered weighting 2,320 grams. Postnatal echocardiography confirmed the diagnosis of Cantrell’s pentalogy and karyotype was normal (46, XY). Infant was discharged at 47 days of age with good weight gain, artificial breastfeeding, and outpatient follow-up by the cardiology and cardiac surgery specialists.

BACKGROUND: Preservation of mobility independence is a primary goal in older adults with physical frailty and sarcopenia (PF&S). Interventions based on the combination of physical activity (PA) and nutritional counselling have been indicated as strategies for the management of this condition, although their effectiveness is not confirmed in all investigations. A possible explanation for this uncertain scenario relies in the impact of the adherence to PA interventions. Hence, the present study investigated the impact of the adherence to PA sessions on the incidence of mobility disability in older adults with PF&S. METHODS: This is a secondary analysis of an evaluator blinded, randomised controlled trial, developed in 16 clinical sites across 11 European countries, from January 2016 to 31 October 2019. Participants were community-dwelling older adults (70+ years) with PF&S enrolled in the SPRINTT trial (NCT02582138). PF&S was operationalised as having a total score from 3 to 9 on the short physical performance battery (SPPB), low appendicular lean mass and ability to complete the 400-m walk test in < 15 min. Data from participants allocated to a multicomponent intervention (PA with technological support plus nutritional counselling) and a healthy ageing lifestyle education programme (control group) were analysed. Adherence to PA was assessed based on the number of weekly sessions attended. According to recommendations of the American College of Sports Medicine, adherence was categorised as below recommendations (< 2 sessions/week, BR), meeting recommendations (2-3 sessions/week, MR), and above recommendations (> 3 sessions/week, AR). The primary outcome was incident mobility disability, operationalised as incident inability to complete the 400-m walk test in < 15 min during up to 36 months of follow-up. RESULTS: Data of 1444 participants (mean age 79.3 years, 72.6% women) were analysed. In those with SPPB scores of 3-7, MR and AR groups had lower risk of mobility disability compared with controls [MR HR (95% CI): 0.57 (0.41-0.78), p = 0.001; AR HR (95% CI): 0.33 (0.23-0.46), p < 0.001] and BR groups [MR: HR (95% CI): 0.48 (0.34-0.69), p < 0.001; AR: HR (95% CI): 0.27 (0.18-0.38), p < 0.001] in a dose-dependent manner. In those with SPPB scores of 8 or 9, the BR group had a higher risk of mobility disability than controls. MR and AR groups had a lower risk of mobility disability than the BR group. CONCLUSIONS: In older adults with PF&S, adherence to PA recommendations is associated with lower incidence of mobility disability. This benefit depends on the degree of adherence as well as baseline physical performance. TRIAL REGISTRATION: ClinicalTrials.gov NCT02582138.

• MeSH
• Exercise * physiology   MeSH
• Humans MeSH
• Mobility Limitation * MeSH
• Persons with Disabilities MeSH
• Sarcopenia * physiopathology   therapy   MeSH
• Aged, 80 and over MeSH
• Aged MeSH
• Check Tag
• Humans MeSH
• Male MeSH
• Aged, 80 and over MeSH
• Aged MeSH
• Female MeSH
• Publication type
• Journal Article MeSH
• Multicenter Study MeSH
• Randomized Controlled Trial MeSH

Cíl: Zjistit profil žen podstupujících evakuaci dělohy pro podezření na hydatidiformní molu (HM) podle jejich klinických, laboratorních, ultrazvukových a anatomicko-patologických charakteristik ve dvou referenčních centrech v severovýchodní Brazílii. Metody: Retrospektivní kohortová studie byla provedena ve dvou referenčních centrech v období od října 2016 do prosince 2022 u žen podstupujících evakuaci dělohy pro podezření na HM. Hodnotily se sociodemografické charakteristiky, klinické parametry, biochemie, ultrazvuk, anatomická patologie a výsledky. Výsledky: Celkem bylo přijato 507 žen s klinickým podezřením na gestační trofoblastickou nemoc, u 334 z nich byla HM potvrzena, u 107 pacientek v centru 1 a 227 v centru 2. Průměrná vzdálenost mezi referenčním centrem a domovem pacientky byla 88 km. Průměrný věk žen byl 27 ± 9 let, s převahou 19–39 let (72 %), a přibližně 60 % případů bylo diagnostikováno v ≤ 12 týdnu těhotenství. Vaginální krvácení bylo pozorováno u 79 % žen. Transvaginální ultrazvuk vykazoval typický vzhled u 90 % vyšetření. Makroskopický aspekt byl popsán jako vezikula v 70 % případů. Evakuace dělohy byla prováděna především děložní kyretáží (43 %). Většina žen neměla žádné komplikace (69 %). Výsledek považovaný za remisi byl dosažen v 37,1 % případů, ale 38,9 % žen přestalo docházet na kontroly a 9 % nebylo po propuštění z nemocnice sledováno. Závěr: Vzdálenost, kterou ženy urazily do referenčních center, byla významná, ale většina žen neměla žádné komplikace. Remise byla pozorována u 37,1 % žen, ale byl zde vysoký podíl žen (38,9 %), které přestaly na kontroly docházet.

Objective: To determine the profile of women undergoing uterine evacuation for suspected hydatidiform mole (HM) according to their clinical, laboratory, ultrasound, and anatomopathological characteristics at two referral centers in Northeastern Brazil. Methods: Retrospective cohort study was performed in two referral centers between October 2016 and December 2022 with women undergoing uterine evacuation for suspected HM. Socio-demographic characteristics, clinics, biochemistry, ultrasound, anatomopathology, and outcome were evaluated. Results: A total of 507 women were admitted with clinical suspicion of gestational trophoblastic disease, of which 334 were confirmed, with 107 being in Center-1 and 227 being in Center-2. Mean distance between the referral center and the patient‘s home was 88 km. Mean age of the women was 27 ± 9 years, with a predominance of 19 to 39 years (72%), and approximately 60% of the cases were diagnosed ≤ 12 weeks of gestation. Vaginal bleeding was observed in 79% of women. Transvaginal ultrasound showed a typical appearance in 90% of the examinations. The macroscopic aspect was described as a vesicle in 70% of cases. Uterine evacuation was mainly performed by uterine curettage (43%). The majority of women had no complications (69%). The outcome considered to be remission was achieved in 37.1% of cases, but 38.9% abandoned follow-up, and 9% did not start follow-up after hospital discharge. Conclusion: The distance traveled by women to the referral centers was significant, but the majority of women had no complications. Remission was observed in 37.1% of women, but there was a high abandonment rate of 38.9%.

• MeSH
• Adult MeSH
• Pregnancy Complications surgery   diagnostic imaging   diagnosis   classification   MeSH
• Humans MeSH
• Adolescent MeSH
• Hydatidiform Mole * surgery   diagnostic imaging   diagnosis   epidemiology   MeSH
• Uterine Neoplasms surgery   diagnosis   epidemiology   classification   MeSH
• Retrospective Studies MeSH
• Pregnant People MeSH
• Ultrasonography methods   MeSH
• Check Tag
• Adult MeSH
• Humans MeSH
• Adolescent MeSH
• Female MeSH
• Publication type
• Research Support, Non-U.S. Gov't MeSH
• Geographicals
• Brazil MeSH

OBJECTIVE: To examine concussion experiences and knowledge among top-level youth karate athletes. METHODS: This cross-sectional study collected data during the 12th World Karate Championships for cadets, juniors and under-21 athletes (held in Konya, Turkey, 2022). All 1414 registered athletes from 95 countries were invited to complete a 16-item paper-based questionnaire assessing demographic data, concussion history and concussion knowledge prior to the competing at the tournament. χ2 and Fisher's exact tests were used to analyse differences by sex, age group and continental karate federation. RESULTS: A total of 654 athletes (46.3% response rate), including 286 (43.7%) females and 368 (56.3%) males, participated in the study, with 29.9% reporting one or more concussions during participation in karate training or competition. Older age groups (under 21 years) reported significantly higher concussion rates than younger athletes (56.9% vs 31.1% juniors and 24.7% cadets; p<0.001). Concussion knowledge revealed considerable gaps, with only 24.5% of athletes correctly identifying a concussion and 68.9% believing loss of consciousness was required for a concussion diagnosis. Misconceptions varied significantly across geographical regions, with Asian and African athletes demonstrating the greatest need for targeted education. Female athletes demonstrated better concussion reporting attitudes than males (60.4% vs 48.9%, p=0.004). CONCLUSIONS: This study highlights the prevalence of concussions and significant knowledge gaps among top-level youth karate athletes, emphasising the need for tailored educational interventions to improve concussion recognition and management within the karate community.

• MeSH
• Martial Arts * injuries   MeSH
• Brain Concussion * epidemiology   MeSH
• Humans MeSH
• Adolescent MeSH
• Young Adult MeSH
• Cross-Sectional Studies MeSH
• Surveys and Questionnaires MeSH
• Athletes * statistics & numerical data   MeSH
• Athletic Injuries * epidemiology   MeSH
• Health Knowledge, Attitudes, Practice * MeSH
• Check Tag
• Humans MeSH
• Adolescent MeSH
• Young Adult MeSH
• Male MeSH
• Female MeSH
• Publication type
• Journal Article MeSH

Tato kazuistika popisuje případ totální atrioventrikulární blokády (TAVB) s pozitivními anti-Ro/SSA protilátkami u transgender muže, který byl sledován ve 31. týdnu a 3. dni gestace. Navzdory mnoha neshodám ohledně tohoto pacienta byly doporučeny kortikosteroidy. Komorová frekvence plodu při druhé týdenní návštěvě byla 50 tepů/min a ke zvýšení srdeční frekvence bylo zahájeno podávání terbulinu. Pro lepší kontrolu mateřských symptomů a sledování vitálních funkcí plodu bylo přikročeno k hospitalizaci a nitrožilnímu podání terbutalinu po dobu 3 dnů a rovněž ke každodennímu monitorování komorové frekvence. Došlo ke zvýšení výchozí komorové frekvence přibližně o 15 %. Po propuštění z nemocnice byla navíc k indexům navrženým Huhtou pro echokardiografické hodnocení srdeční funkce plodu prováděna týdenní kontrolní echokardiografie plodu. Fetální komorová frekvence u ambulantních kontrol neklesla na < 55 tepů/min. Císařský řez byl indikován ve 35. týdnu a 4. dni gestace z důvodu předčasné ruptury ovulárních membrán. Byl porozen novorozenec mužského pohlaví o hmotnosti 2 250 g s Apgar skóre 8 v 1. minutě a 9 v 5. minutě. Po 88 dnech života kojenec vážil 4 580 g a bez komplikací mu byl implantován trvalý dvoukomorový epikardiální kardiostimulátor. Kardiostimulátor je indikován i v případě, že při použití terbutalinu dojde k přechodnému zvýšení komorové frekvence plodu. Porod by měl proběhnout v termínu, aby plod mohl dosáhnout adekvátní hmotnosti a plicní zralosti pro implantaci trvalého kardiostimulátoru.

This case report describes a case of total atrioventricular block (TAVB) with positive anti-Ro/SSA antibodies in a transgender man who began follow-up at 31 weeks and 3 days of gestation. Despite many disagreements regarding treatment, corticosteroids were recommended for this patient. The fetal ventricular rate at the second weekly visit was 50 bpm and terbulin was started to increase heart rate. Hospitalization and intravenous terbutaline for 3 days was chosen to better control maternal symptoms and monitor fetal vital signs, as well as daily monitoring of the ventricular rate. There was an increase in baseline ventricular rate of approximately 15%. After discharge from the hospital, weekly control fetal echocardiography was performed in addition to the indices proposed by Huhta for echocardiographic assessment of fetal cardiac function. Fetal ventricular rate in ambulatory controls did not fall below 55 bpm. Cesarean section was indicated at 35 weeks and 4 days of gestation due to premature rupture of ovular membranes. A male newborn was delivered weighing 2,250 grams with Apgar scores of 8 and 9 at the 1st and 5th minute, respectively. After 88 days of life, the infant was weighing 4,580 grams and a definitive bicameral epicardial pacemaker was implanted without complications. Even if there is a transient increase in fetal ventricular rate with the use of terbutaline, a pacemaker is indicated. Delivery should be at term to allow the fetus to achieve adequate weight and pulmonary maturity for definitive pacemaker implantation.

• MeSH
• Atrioventricular Block * diagnosis   MeSH
• Cesarean Section MeSH
• Humans MeSH
• Prenatal Diagnosis MeSH
• Lupus Erythematosus, Systemic diagnosis   MeSH
• Pregnancy MeSH
• Terbutaline therapeutic use   MeSH
• Transgender Persons MeSH
• Check Tag
• Humans MeSH
• Male MeSH
• Pregnancy MeSH
• Publication type
• Case Reports MeSH

PDGFRA is crucial to tumorigenesis and frequently genomically altered in high-grade glioma (HGG). In a comprehensive dataset of pediatric HGG (n = 261), we detect PDGFRA mutations and/or amplifications in 15% of cases, suggesting PDGFRA as a therapeutic target. We reveal that the PDGFRA/KIT inhibitor avapritinib shows (1) selectivity for PDGFRA inhibition, (2) distinct patterns of subcellular effects, (3) in vitro and in vivo activity in patient-derived HGG models, and (4) effective blood-brain barrier penetration in mice and humans. Furthermore, we report preliminary clinical real-world experience using avapritinib in pediatric and young adult patients with predominantly recurrent/refractory PDGFRA-altered HGG (n = 8). Our early data demonstrate that avapritinib is well tolerated and results in radiographic response in 3/7 cases, suggesting a potential role for avapritinib in the treatment of HGG with specific PDGFRA alterations. Overall, these translational results underscore the therapeutic potential of PDGFRA inhibition with avapritinib in HGG.

• MeSH
• Child MeSH
• Adult MeSH
• Glioma * drug therapy   genetics   pathology   MeSH
• Blood-Brain Barrier metabolism   MeSH
• Protein Kinase Inhibitors * pharmacology   therapeutic use   MeSH
• Humans MeSH
• Adolescent MeSH
• Young Adult MeSH
• Mutation MeSH
• Mice MeSH
• Cell Line, Tumor MeSH
• Brain Neoplasms * drug therapy   genetics   pathology   MeSH
• Child, Preschool MeSH
• Antineoplastic Agents * pharmacology   therapeutic use   MeSH
• Pyrazoles * pharmacology   therapeutic use   MeSH
• Pyrroles MeSH
• Receptor, Platelet-Derived Growth Factor alpha * genetics   antagonists & inhibitors   metabolism   MeSH
• Neoplasm Grading MeSH
• Triazines MeSH
• Xenograft Model Antitumor Assays MeSH
• Animals MeSH
• Check Tag
• Child MeSH
• Adult MeSH
• Humans MeSH
• Adolescent MeSH
• Young Adult MeSH
• Male MeSH
• Mice MeSH
• Child, Preschool MeSH
• Female MeSH
• Animals MeSH
• Publication type
• Journal Article MeSH

Temporomandibular disorders (TMDs) are conditions with multifactorial etiology and complex treatment. Among the non-invasive therapeutic possibilities for these conditions is the Front Plateau, a partial anterior plate made from colourless self-curing acrylic resin. It is a simple procedure that can be carried out in a single clinical section promoting muscle relaxation to reduce symptoms associated with TMDs. This study aims to report a prospective, consecutive, single-centric case series to evaluate the Front Plateau's effectiveness in patients with temporomandibular disorders. A questionnaire adapted from the Research Diagnostic Criteria for TMDs was used and 4 patients were treated with the Front Plateau plaque. Patients were monitored after 5 and 9 months, respectively, after starting to use the Front Plateau. Of the 4 cases listed, 2 showed significant improvement in initial signs and symptoms. Front Plateau may be a favourable treatment option for patients with TMD, if the guidelines are followed. Clinical trials on this modality should seek to minimize possible biases and limitations associated with the design of this type of research.

• MeSH
• Acrylic Resins therapeutic use   MeSH
• Adult MeSH
• Middle Aged MeSH
• Humans MeSH
• Temporomandibular Joint Disorders * therapy   diagnosis   MeSH
• Prospective Studies MeSH
• Check Tag
• Adult MeSH
• Middle Aged MeSH
• Humans MeSH
• Male MeSH
• Female MeSH
• Publication type
• Journal Article MeSH
• Case Reports MeSH
• Review MeSH

Idiopathic inflammatory myopathies (IIM), or myositis, are a heterogeneous group of systemic autoimmune disorders that are associated with significant morbidity and mortality. Conducting high-quality clinical trials in IIM is challenging due to the rare and variable presentations of disease. To address this challenge, the Myositis Clinical Trials Consortium (MCTC) was formed. MCTC is a collaborative international alliance dedicated to facilitating, promoting, coordinating and conducting clinical trials and related research in IIM. This partnership works to advance the discovery of effective evidence-based treatments for IIM by integrating a diverse group of clinical investigators, research professionals, medical centres, patient groups, and industry partners. The Steering Committee, Core Group, and Paediatric Subcommittee of MCTC are comprised of myositis experts and junior investigators from around the world, representing a diversity of genders, geographies, and subspecialties. MCTC works alongside other current myositis organisations to complement existing work by concentrating on the operationalisation of clinical trials. Our pilot Myositis Investigators' Information Survey gathered responses from 173 myositis investigators globally and found considerable variability in proficiency with outcome measures, geographic disparities in patient recruitment, and a significant disconnect between investigators' routine myositis patient load and clinical trial enrolment. MCTC will meet the need to support and diversify myositis clinical trials by facilitating trial planning, feasibility assessments, site selection, and the training and mentoring of junior investigators/centres to establish their readiness for clinical trial participation. Through experienced leadership, strategic collaborations, and interdisciplinary discussions, MCTC will establish standards for IIM clinical trial design, protocols, and outcome measures in myositis.

• MeSH
• Child MeSH
• Adult MeSH
• Clinical Trials as Topic * MeSH
• Cooperative Behavior MeSH
• Humans MeSH
• International Cooperation * MeSH
• Adolescent MeSH
• Myositis * therapy   diagnosis   MeSH
• Research Design MeSH
• Check Tag
• Child MeSH
• Adult MeSH
• Humans MeSH
• Adolescent MeSH
• Publication type
• Journal Article MeSH
• Review MeSH

Objectives: The relationship between the isokinetic maximal strength of internal or external shoulder rotation and serve speed in tennis is well established, yet the influence of segmental mass, height, and high-speed shoulder rotation strength on serve performance in junior players remains unclear. This study aimed to investigate the relationship between concentric or eccentric isokinetic shoulder strength, segmental mass, height, and first-serve speed aimed at the T-target zone. Methods: Fifteen male junior competitive tennis players (mean ± SD: age 15.9 ± 0.9 years; height: 180.1 ± 7.2 cm; body mass: 66.1 ± 5.7 kg) were assessed for maximal isokinetic strength during concentric and eccentric internal and external shoulder rotations. Segmental mass (arm, leg, and trunk) was measured using dual-energy X-ray absorptiometry, and serve speed was recorded using a radar gun. Results: Concentric shoulder rotations at 210°/s demonstrated significant positive correlations with serve speed for both external (ρ = 0.71, p ≤ 0.01) and internal rotation (ρ = 0.61, p ≤ 0.05). Although lean arm mass partially mediated the relationship between shoulder strength and serve speed (indirect effect = 0.502, 95% CI: -0.156 to 1.145), this mediation effect was not statistically significant. Height was moderately correlated with serve speed (ρ = 0.68, p ≤ 0.01) but did not moderate the relationship between shoulder strength and serve speed. Conclusions: Concentric shoulder strength at higher angular velocities and segmental mass contribute to serve speed in junior tennis players. While height provides structural advantages, strength and lean mass play important roles, emphasizing the need for targeted training programs.

• Publication type
• Journal Article MeSH