Effect of the alveolate parasite Perkinsus olseni infection on sexual maturation and spawning efficiency of the clam Ruditapes decussatus.

The effect of Perkinsus olseni infection on the reproduction ability of clams has been underestimated so far. Although some studies found evidence of reduction of egg production and delay in gonad maturation after infection, the total effect of the infection is still unclear. In this study, Ruditapes decussatus clams from a naïve population were injected with two different doses of P. olseni parasites, a low dose leading to a light infection and a high dose leading to a heavy infection. Clams were maintained during 2 months for maturation, and at the end of the experiment, the spawning was induced, the number of larvae release and mortality were evaluated. During the maturation period, infection level, gonadal stage, condition index, gross biochemical composition and oxidative status of progenitors were evaluated at days 0, 30 and 60 post-injection. The effects of P. olseni infection on clams showed alterations on biochemical parameters, namely lipid peroxidation, a significant mortality and a delayed gonad maturation, with a greater effect in the highly infected individuals. The reproductive capacity of the clams was impaired in both infected groups showing a lower production and a higher mortality rate of larvae. Finally, this study indicates that the production of natural beds with a high prevalence of P. olseni could be compromised by a deregulation of the natural reproduction cycle and a decrease in larvae production by infected animals, probably due to a combination of lower egg production and lower lipid reserves in larvae from infected clams.

Transfusion policy in pediatric extracorporeal membrane oxygenation patients: Less could be more.

OBJECTIVE: To evaluate a restrictive transfusion policy of red blood cells (RBC) and platelets in pediatric patients submitted to extracorporeal membrane oxygenation (ECMO). METHODS: Retrospective descriptive study of pediatric patients supported with ECMO, from January 2010 to December 2019. Hemoglobin, platelet, lactate and mixed venous oxygen saturation (SvO2) values of each patient while on ECMO, were collected. Transfusion efficiency and tissue oxygenation were statistically evaluated comparing pre-transfusion hemoglobin, lactate and SvO2 with post-transfusion values. Ranges of hemoglobin and platelets were established, and the number of transfusions registered. The bleeding complications and outcome were documented. RESULTS: Of a total of 1016 hemoglobin values, the mean value before transfusion was 8.6 g/dl. Hemoglobin and SvO2 increased significantly post-transfusion. Red blood cell transfusion varied with hemoglobin values: when hemoglobin value was less than 7 g/dl, 89% (41/46) were transfused but just 23% (181/794) when greater or equal to 7 g/dl. In the presence of active bleeding, the frequency of RBC transfusion increased from 32% to 62%, with hemoglobin between 7 g/dl and 8 g/dl.The mean value for platelet transfusion was 32 x 109/L. Thirty-eight (43%) platelet values between 20 x 109/L and 30x109/L, and 31 (40%) between 30 x 109/L and 40 x 109/L led to platelet transfusion; between 40 x 109/L and 50 x 109/L, only 7 (9%) prompted platelet transfusion.Comparing the 2010-2015 to 2016-2019 periods there was a decrease in RBC and platelet transfusion threshold with similar survival (p = .528). Survival to discharge was 68%. CONCLUSIONS: Using a restrictive RBC and platelet transfusion policy was safe and allowed a good outcome in this case series. The presence of active bleeding was an important decision factor when hemoglobin was above 7 g/dl and platelets were above 30 x 109/L.

Anti-inflammatory potential of simvastatin loaded nanoliposomes in 2D and 3D foam cell models.

Atherosclerosis is a multifactorial disease triggered and sustained by risk factors such as high cholesterol, high blood pressure and unhealthy lifestyle. Inflammation plays a pivotal role in atherosclerosis pathogenesis. In this study, we developed a simvastatin (STAT) loaded nanoliposomal formulation (LIPOSTAT) which can deliver the drug into atherosclerotic plaque, when administered intravenously. This formulation is easily prepared, stable, and biocompatible with minimal burst release for effective drug delivery. 2D and 3D in vitro models were examined towards anti-inflammatory effects of STAT, both free and in combination with liposomes. LIPOSTAT induced greater cholesterol efflux in the 2D foam cells and significantly reduced inflammation in both 2D and 3D models. LIPOSTAT alleviated inflammation by reducing the secretion of early and late phase pro-inflammatory cytokines, monocyte adherence marker, and lipid accumulation cytokines. Additionally, the 3D foam cell spheroid model is a convenient and practical approach in testing various anti-atherosclerotic drugs without the need for human tissue.

Can EEG Be Adopted as a Neuroscience Reference for Assessing Software Programmers' Cognitive Load?

An emergent research area in software engineering and software reliability is the use of wearable biosensors to monitor the cognitive state of software developers during software development tasks. The goal is to gather physiologic manifestations that can be linked to error-prone scenarios related to programmers' cognitive states. In this paper we investigate whether electroencephalography (EEG) can be applied to accurately identify programmers' cognitive load associated with the comprehension of code with different complexity levels. Therefore, a controlled experiment involving 26 programmers was carried. We found that features related to Theta, Alpha, and Beta brain waves have the highest discriminative power, allowing the identification of code lines and demanding higher mental effort. The EEG results reveal evidence of mental effort saturation as code complexity increases. Conversely, the classic software complexity metrics do not accurately represent the mental effort involved in code comprehension. Finally, EEG is proposed as a reference, in particular, the combination of EEG with eye tracking information allows for an accurate identification of code lines that correspond to peaks of cognitive load, providing a reference to help in the future evaluation of the space and time accuracy of programmers' cognitive state monitored using wearable devices compatible with software development activities.

Polymethoxylated Flavones from Orange Peels Inhibit Cell Proliferation in a 3D Cell Model of Human Colorectal Cancer.

Polymethoxylated flavones (PMFs) have been recognized to inhibit colorectal cancer proliferation through various mechanisms, however most of these studies have been performed on cells grown as monolayers that present limitations in mimicking the 3D tumor architecture and microenvironment. The main aim of this study was to investigate the anticancer potential of an orange peel extract (OPE) enriched in PMFs in a 3D cell model of colorectal cancer. The OPE was developed by supercritical fluid extraction and the anticancer effect was evaluated in HT29 spheroids cultures in a stirred-tank based system. Results showed that OPE inhibited cell proliferation, induced cell cycle arrest (G2/M phase), promoted apoptosis, and reduced ALDH+ population on HT29 spheroids. The antiproliferative activity was significantly lower than that obtained for 2D model (EC50 value of 0.43 ± 0.02 mg/mL) and this effect was dependent on diameter and cell composition/phenotype of spheroids derived from different culture days (day 3 - 0.53 ± 0.05 mg/mL; day 5 - 0.55 ± 0.03 mg/mL; day 7 - 1.24 ± 0.15 mg/mL). HT29 spheroids collected at day 7 presented typical characteristics of in vivo solid tumors including a necrotic/apoptotic core, hypoxia regions, presence of cancer stem cells, and a less differentiated invasive front. Nobiletin, sinesentin, and tangeretin were identified as the main compounds responsible for the anticancer activity.

Antileishmanial activity of meroditerpenoids from the macroalgae Cystoseira baccata.

The development of novel drugs for the treatment of leishmaniases continues to be crucial to overcome the severe impacts of these diseases on human and animal health. Several bioactivities have been described in extracts from macroalgae belonging to the Cystoseira genus. However, none of the studies has reported the chemical compounds responsible for the antileishmanial activity observed upon incubation of the parasite with the aforementioned extracts. Thus, this work aimed to isolate and characterize the molecules present in a hexane extract of Cystoseira baccata that was found to be bioactive against Leishmania infantum in a previous screening effort. A bioactivity-guided fractionation of the C. baccata extract was carried out and the inhibitory potential of the isolated compounds was evaluated via the MTT assay against promastigotes and murine macrophages as well as direct counting against intracellular amastigotes. Moreover, the promastigote ultrastructure, DNA fragmentation and changes in the mitochondrial potential were assessed to unravel their mechanism of action. In this process, two antileishmanial meroditerpenoids, (3R)- and (3S)-tetraprenyltoluquinol (1a/1b) and (3R)- and (3S)-tetraprenyltoluquinone (2a/2b), were isolated. Compounds 1 and 2 inhibited the growth of the L. infantum promastigotes (IC50 = 44.9 ± 4.3 and 94.4 ± 10.1 µM, respectively), inducing cytoplasmic vacuolization and the presence of coiled multilamellar structures in mitochondria as well as an intense disruption of the mitochondrial membrane potential. Compound 1 decreased the intracellular infection index (IC50 = 25.0 ± 4.1 µM), while compound 2 eliminated 50% of the intracellular amastigotes at a concentration > 88.0 µM. This work identified compound 2 as a novel metabolite and compound 1 as a biochemical isolated from Cystoseira algae displaying antileishmanial activity. Compound 1 can thus be an interesting scaffold for the development of novel chemotherapeutic molecules for canine and human visceral leishmaniases studies. This work reinforces the evidence of the marine environment as source of novel molecules.

Protective Effect of a (Poly)phenol-Rich Extract Derived from Sweet Cherries Culls against Oxidative Cell Damage.

Oxidative stress is one of the key phenomena behind the most common types of chronic diseases. Therefore, the modulation of oxidative stress is an interesting target for acting either through prevention or as a therapeutic approach. In this work, a Portuguese variety of cherry (Saco Cherry) was processed in order to obtain a potent in vitro antioxidant phenolic-rich extract (Ch-PRE), which was further explored to evaluate its potential application as nutraceutical agent against cellular oxidative stress damage. Ch-PRE was mainly composed of anthocyanins, particularly cyanidin-3-rutinoside, cyanidin-3-glucoside, peonidin-3-glucoside and neochlorogenic acid, and exhibited a potent chemical antioxidant activity expressed by its oxygen radical absorbance capacity (ORAC) and hydroxyl radical averting capacity (HORAC) values. Ch-PRE also displayed effective intracellular radical scavenging properties in intestinal epithelial and neuronal cells challenged with oxidative stress but showed a different order of effectiveness regarding the modulation of endogenous antioxidant system. Ch-PRE could be an attractive candidate to formulate an agent for the prevention of oxidative stress-induced disorders such as intestinal inflammation disorders or with an appropriated delivery system for neurodegenerative diseases.

Methanol extracts from Cystoseira tamariscifolia and Cystoseira nodicaulis are able to inhibit cholinesterases and protect a human dopaminergic cell line from hydrogen peroxide-induced cytotoxicity.

Context Marine macroalgae contain several bioactive molecules that may be developed as functional foods, but information about their neuroprotective potential is scarce. Objective The objective of this study is to determine the in vitro antioxidant and neuroprotective features of marine algae from the southern coast of Portugal and to assess the total content of different types of bioactives. Materials and methods Methanol extracts from 21 macroalgal species from the southern Portugal were evaluated for in vitro antioxidant and acetylcholinesterase (AChE) inhibition. Active extracts were further evaluated for inhibitory activity against butyrylcholinesterase (BuChE) and tyrosinase (TYRO), and for their ability to attenuate hydrogen peroxide (H2O2)-induced toxicity in SH-SY5Y cells. The total contents of different phenolic groups were determined for the most active extracts. Results Cystoseira tamariscifolia (Hudson) Papenfuss (Sargassaceae) had the highest antiradical activity (92%, 1 mg/mL). Cystoseira nodicaulis (Withering) M. Roberts (Sargassaceae) (75%) and Cystoseira humilis Schousboe ex Kützing (Sargassaceae) (70%) had the highest iron-chelating activity at 10 mg/mL. Cystoseira baccata (S.G. Gmelin) P.C. Silva (Sargassaceae) was more active towards copper (66%, 10 mg/mL). Cystoseira tamariscifolia had the highest AChE inhibitory capacity (85%, 10 mg/mL). Cystoseira tamariscifolia and C. nodicaulis were also active against BuChE and TYRO, and were able to protect SH-SY5Y cells against oxidative stress induced by H2O2. Cystoseira tamariscifolia had the highest content of all the groups of phenolics, and was particularly enriched in hydroxycinnamic acids (106 mg CAE/g DW). Discussion and conclusion Results indicate that C. tamariscifolia and C. nodicaulis are important sources of nutraceutical compounds and may be considered functional foods that could improve cognitive functions.

Maritime halophyte species from southern Portugal as sources of bioactive molecules.

Extracts of five halophytes from southern Portugal (Arthrocnemum macrostachyum, Mesembryanthemum edule, Juncus acutus, Plantago coronopus and Halimione portulacoides), were studied for antioxidant, anti-inflammatory and in vitro antitumor properties. The most active extracts towards the 1,1-diphenyl-2-picrylhydrazyl (DPPH) radical were the methanol extracts of M. edule (IC50 = 0.1 mg/mL) and J. acutus (IC50 = 0.4 mg/mL), and the ether extracts of J. acutus (IC50 = 0.2 mg/mL) and A. macrostachyum (IC50 = 0.3 mg/mL). The highest radical scavenging activity (RSA) against the 2,2'-azino-bis (3-ethylbenzothiazoline-6-sulphonic acid) (ABTS) radical was obtained in the ether extract of J. acutus (IC50 = 0.4 mg/mL) and H. portulacoides (IC50 = 0.9 mg/mL). The maximum total phenolic content (TPC) was found in the methanol extract of M. edule (147 mg gallic acid equivalents (GAE)/g) and in the ether extract of J. acutus (94 mg GAE/g). Significant decreases in nitric oxide (NO) production were observed after incubation of macrophages with lipopolysaccharide (LPS) and the chloroform extract of H. portulacoides (IC50 = 109 µg/mL) and the hexane extract of P. coronopus (IC50 = 98.0 µg/mL). High in vitro cytotoxic activity and selectivity was obtained with the ether extract of J. acutus. Juncunol was identified as the active compound and for the first time was shown to display selective in vitro cytotoxicity towards various human cancer cells.

In vitro antitumoral activity of compounds isolated from Artemisia gorgonum Webb.

Artemisia gorgonum (Asteraceae) is an endemic plant to the Cape Verde islands and plays an important role in traditional medicine. The chloroform extract of the plant aerial parts afforded six sesquiterpene lactones, two methoxylated flavonoids, two lignans, and one tetracyclic triterpene, which were isolated by chromatographic methods and their structure established by physical and spectroscopic techniques. The cytotoxic activity of the three major constituents, namely, arborescin, artemetin, and sesamin, was evaluated on neuroblastoma (SH-SY5Y), hepatocarcinoma (HepG2), and nontumoral bone marrow stromal (S17) cell lines. The application of different concentrations of the compounds significantly decreased tumor cells viability at different extents, especially at the highest concentrations tested. Arborescin is the most promising compound as it was able to reduce tumoral cell viability with an IC50 significantly lower (229-233 µM; p < 0.01) than that of S17 cells (445 µM). Arborescin and artemetin were less toxic to nontumoral cells than the antitumoral drug tested, etoposide. Our results indicate that arborescin has a significant cytotoxic activity in vitro, more pronounced on the cancer cell lines, confirming A. gorgonum as a source of potential antitumoral molecules.

Proanthocyanidin accumulation and biosynthesis are modulated by the irrigation regime in tempranillo seeds.

The main effects of three different irrigation regimes, i.e., sustained deficit irrigation (SDI), regulated deficit irrigation (RDI) and non-irrigated (NI), on seed traits namely proanthocyanidins (PAs) were evaluated in the wine grape cultivar Aragonez (syn. Tempranillo) grown in Alentejo (Portugal) over two growing seasons. Results showed that while the number of seeds per berry was not affected by water availability, seed fresh weight differed among treatments, the NI treatment exhibiting the lowest values. The biosynthetic pathway of flavanols appeared to be modified by the irrigation treatment, and several genes responsible for PA synthesis were up-regulated in the most stressed seeds (RDI and NI). However, this effect had no impact on PA content, suggesting the influence of other factors such as oxidation and/or degradation of PAs at late stages of maturation in grape seeds. The seeds' non-enzymatic antioxidant capacities (oxygen radical absorbance capacity (ORAC) and hydroxyl radical adverting capacity (HORAC)) were modulated by water deficit and correlated well with PA content. The impact of irrigation strategy on PA biosynthesis, content, and anti-radical activity during seed ripening is discussed in the context of increasing interest in the role of PAs in the color and taste of wine, and the potential health benefits relating to their antioxidant capacity.

Traumatic abdominal wall hernia in childhood: a bicycle handlebar injury.

A female patient in her middle childhood presented to the paediatric emergency room (ER) after a bicycle accident with an abdominal impact on the bicycle handlebar. On physical examination, a painful ecchymosis on the upper left quadrant was the only abnormal finding. Abdominal ultrasound showed no intra-abdominal lesions, and the patient was discharged home after 24 hours under monitoring. Nine days after the accident, she returned to the ER due to the emergence of an abdominal mass around the area of impact. Abdominal examination detected a tender non-fluctuating mass on the epigastric and left hypochondrium, and abdominal ultrasound revealed a muscle and aponeurosis disruption of the rectus muscle, with fat herniation and cytosteatonecrosis. A conservative approach was chosen, with ambulatory follow-up. One month after the accident, the patient was asymptomatic, no abdominal mass was palpable, and an abdominal CT showed a reduction of the muscle disruption and hernial content.

Chemical neurolysis for the conservative treatment of hip fractures.

Aim: Hip fracture management is challenging when surgical risks outweigh benefits. Inadequate analgesia from conservative treatments prompted new procedures targeting hip capsule denervation. This study evaluates the efficacy and safety of single injection chemical hip neurolysis in the pericapsular nerve group plane.Materials & methods: In eligible patients, an ultrasound-guided diagnostic block was performed using 5 ml of 2% lidocaine in the pericapsular nerve group plane. If positive, 6 ml of 99.9% alcohol was administered.Results: From May 2022 to May 2023, five patients underwent hip neurolysis. None reported pain at day 5 or during follow-up. There were no adverse effects.Conclusion: Chemical neurolysis seems to provide effective and safe conservative treatment for hip fractures, offering reliable analgesia for nonsurgical candidates.

Managing hip fractures is difficult, especially when surgery is too risky. Traditional pain relief methods often do not work well enough, so doctors are exploring new ways to reduce pain by targeting the nerves around the hip.In this study, we looked at a new technique called chemical neurolysis to see if it can safely and effectively relieve pain for people with hip fractures who can not have surgery.For this procedure, doctors first used a special technique to find the right spot near the hip using ultrasound. Then, they injected a small amount of a numbing medicine called lidocaine to see if it helped with the pain. If it did, they followed up by injecting alcohol to block the pain nerves more permanently.Between May 2022 and May 2023, five patients received this treatment. All of them reported no pain 5 days after the procedure and there were no negative side effects. We continued to check on them regularly to monitor their progress.In conclusion, chemical neurolysis appears to be a safe and effective way to manage hip fracture pain for patients who cannot undergo surgery, providing reliable pain relief without major risks.

Ocean acidification will not affect the shell strength of juveniles of the commercial clam species Chamelea gallina: Implications of the local alkalinization of seawater.

Ocean acidification (OA) is expected to decrease the strength of bivalves' shells, especially during the early stages of development, with negative consequences to the resilience of natural populations and the economy. The objectives of the present study were to assess the long-term effect of increasing pCO2 after 217 days of exposure under controlled conditions of pH of ∼8.2, 8.0, and 7.7 on the strength and integrity of shells of juveniles of the commercial striped venus clam Chamelea gallina. Shell strength was estimated through compression tests and integrity through scanning electron microscopy (SEM) and dispersive X-ray analyses (EDX). The results showed that under increasing pCO2 the shell strength of juveniles is unaffected, which could be related to the locally elevated total alkalinity of seawater with respect to other parts of the coastal lagoon. However, despite this, it was also observed that the juvenile clams exposed to elevated pCO2 decreased their shell thickness and increased the porosity of their prismatic layer. Under future OA conditions, these changes could eventually compromise the integrity of the shells, becoming more vulnerable to the attack of predators and breakable during fishing operations. Future studies should address the plasticity of the organisms and the effect of the alkalinization of seawater on the resilience of shellfish juveniles under global change conditions.

Towards Stem Cell Therapy for Critical-Sized Segmental Bone Defects: Current Trends and Challenges on the Path to Clinical Translation.

The management and reconstruction of critical-sized segmental bone defects remain a major clinical challenge for orthopaedic clinicians and surgeons. In particular, regenerative medicine approaches that involve incorporating stem cells within tissue engineering scaffolds have great promise for fracture management. This narrative review focuses on the primary components of bone tissue engineering-stem cells, scaffolds, the microenvironment, and vascularisation-addressing current advances and translational and regulatory challenges in the current landscape of stem cell therapy for critical-sized bone defects. To comprehensively explore this research area and offer insights for future treatment options in orthopaedic surgery, we have examined the latest developments and advancements in bone tissue engineering, focusing on those of clinical relevance in recent years. Finally, we present a forward-looking perspective on using stem cells in bone tissue engineering for critical-sized segmental bone defects.

Tamoxifen in breast cancer ipse dixit in uterine malignant mixed Müllerian tumor and sarcoma-A report of 8 cases and review of the literature.

AIM: Report the outcome of 8 patients (pts) with breast cancer (BC) treated with Tamoxifen (TAM) that developed malignant mixed Müllerian tumor (MMMT) and rare uterine sarcoma (RUS). PATIENTS AND METHODS: Retrospective study based on data collected from the department medical records between April 1999 and September 2010 among 583 pts with endometrial cancer, 36 pts with MMMT and RUS histopathology. Among them, 8 pts underwent TAM between 4 and 10 years due to a previous diagnosis of BC; all pts were post-menopausal with regular gynecological surveillance; 6 pts (75%) with abnormal uterine bleeding. The diagnosis of 6 pts (MMMT) and 2 pts (RUS) occurred at median interval of 8 years (range 4-12) after initial BC treatment. Pts underwent surgical treatment and were staged as stage I (3pts), IIIA (3pts) and IIIC (2 pts) (FIGO 1988); followed by whole pelvis irradiation (50 Gy) and intracavitary HDR brachytherapy boost (24 Gy). Two pts underwent chemotherapy (CT). Overall and disease free survival was calculated by Kaplan Meier method. RESULTS: With a median follow-up of 47 months (range 17-130), 3 pts remain alive recurrence-free of BC and RUS. Four pts died with distant metastasis within the first follow-up year, without BC. One pt died from non-related cancer cause. No evidence of local recurrence was found in the whole group of pts. At two years, DFS and OS were 40% and 80%, respectively. CONCLUSION: As reported in the literature, TAM administration and causal effect on MMMT and RUS in BC pts is still unknown. No reports about outcome from these specific pts were found.

Conservative approach of a paediatric tracheal rupture.

A girl was brought into the emergency room after a non-penetrating cervical trauma. On physical examination, a rapidly progressing chest subcutaneous emphysema was denoted. The child was immediately intubated and mechanical ventilation was initiated. The CT-scan revealed a rupture to the posterior wall of the trachea and a pneumomediastinum. The child was transferred to the paediatric intensive care unit. A conservative approach was chosen, including tracheal intubation as a bypass through the tracheal injury, sedation to reduce the risk of further tracheal trauma and prophylactic antibiotic therapy. Twelve days after the incident, a bronchoscopy demonstrated the integrity of tracheal mucous and the child was successfully extubated. Three months after hospital discharge she was asymptomatic. In this clinical case, the conservative approach presented a successful outcome, avoiding the risks associated with surgery.

A Case Series Study on Growth Hormone Therapy in Children with Prader-Willi Syndrome in Portugal.

INTRODUCTION: Prader-Willi syndrome is a multisystemic genetic disorder associated with shorter adult height. Nowadays, all paediatric Prader-Willi syndrome patients are considered for growth hormone treatment. We present the experience of this treatment at a Portuguese paediatric endocrinology unit and intend to emphasise the importance of creating a follow-up national network of these patients. MATERIAL AND METHODS: Longitudinal, retrospective, analytical study of Prader-Willis syndrome patients using data between 1989 and 2021. Growth hormone therapy was offered to eligible patients. The analysis included all Prader-Willis syndrome patients, with a comparison between treated and untreated patients; a longitudinal analysis of patients receiving growth hormone therapy (baseline, 12 and 36 months of follow-up) was also carried out. The statistical analysis was carried out using STATA® v13.0. RESULTS: Out of 38 patients with Prader-William syndrome, 61% were male. The median age at diagnosis was four months and 61% received growth hormone therapy. The patients who reached adulthood, or 18 years old, had a median near-adult height, Z-score of -2.71, and their median body mass index indicated class 2 obesity, regardless of growth hormone therapy. Patients had a lower body mass index in the growth hormone group (35 vs 51 kg/m2, p < 0.042) near-adult height. CONCLUSION: This case series represents the first national study that included patients on growth hormone therapy after the National Health Service started supporting the treatment for Prader-Willi syndrome patients and supports its use, reinforcing the positive effects on growth and body mass index. Longer follow-up studies are needed to analyse the effect of growth hormone on patient metabolic profiling, body composition and cognitive level.

Introdução: A síndrome de Prader-Willi é uma doença genética multissistémica associada a baixa estatura. Atualmente, todos os doentes pediátricos com síndrome de Prader-Willi são candidatos a terapia com hormona do crescimento. Apresentamos a experiência desta terapêutica numa unidade de Endocrinologia Pediátrica portuguesa e realçamos a importância de criar uma base de dados nacional de seguimento destes doentes. Material e Métodos: Estudo longitudinal, retrospetivo e analítico de doentes com síndrome de Prader-Willi utilizando dados entre 1989 e 2021. A terapia com hormona de crescimento foi administrada aos doentes elegíveis. Foi realizada análise de todos os doentes com síndrome de Prader-Willi, com comparação doentes tratados/não tratados; foi também realizada uma análise longitudinal dos doentes sob hormona de crescimento (início/12/36 meses de seguimento). O tratamento estatístico foi realizado com recurso ao STATA® v13.0. Resultados: De um total de 38 doentes com síndrome de Prader-Willi, 61% eram do sexo masculino. Idade média de diagnóstico quatro meses e 61% sob hormona de crescimento. Os doentes que atingiram a idade adulta apresentaram um Z-score de mediana de estatura alvo de -2,71, e índice de massa corporal obesidade nível 2, independentemente da terapêutica com hormona de crescimento. Os doentes apresentaram um índice de massa corporal menor no grupo tratado com hormona de crescimento (35 vs 51 kg/m2, p < 0,042). Conclusão: Este estudo de série de casos de doentes com síndrome de Prader-Willi tratados com hormona de crescimento é pioneiro a nível nacional desde a comparticipação deste tratamento pelo Sistema Nacional de Saúde português e apoia esta terapêutica, reforçando os seus efeitos positivos no crescimento e índice de massa corporal. Serão necessários estudos com seguimento mais prolongado para analisar o seu efeito no perfil metabólico, composição corporal e cognição.

Human hair proteins as natural reactive oxygen species scavengers for in vitro applications.

Human hair proteins are recognized for their intrinsically high cysteine content. They can be solubilized while preserving their highly reductive thiol groups for free radical scavenging applications. The presence of aromatic and nucleophilic amino acids such as methionine, serine, phenylalanine, and threonine further contribute to the antioxidative potential of this material. Herein, utilizing the DPPH (2,2-diphenyl-1-picrylhydrazyl) and acellular 2',7'-dichlorodihydrofluorescein diacetate (H2 DCFDA) assays, keratins are demonstrated to possess the highest radical scavenging activity among the studied hair proteins. Consequently, protection against hydrogen peroxide-induced oxidative stress in human dermal fibroblasts (HDFs) cultured in human hair keratin supplemented media is demonstrated. Quenching of reactive oxygen species in the HDF is observed using the CellROX Green dye and the expression levels of antioxidant (HMOX1, SOD2, GPX1) and tumor suppressor (TP53) genes is analyzed using qPCR. Collectively, this study presents further evidence and demonstrates the in vitro application potential of hair proteins, especially keratins, as an antioxidizing supplement.

Polyunsaturated Fatty acids of marine macroalgae: potential for nutritional and pharmaceutical applications.

As mammals are unable to synthesize essential polyunsaturated fatty acids (PUFA), these compounds need to be taken in through diet. Nowadays, obtaining essential PUFA in diet is becoming increasingly difficult; therefore this work investigated the suitability of using macroalgae as novel dietary sources of PUFA. Hence, 17 macroalgal species from three different phyla (Chlorophyta, Phaeophyta and Rhodophyta) were analyzed and their fatty acid methyl esters (FAME) profile was assessed. Each phylum presented a characteristic fatty acid signature as evidenced by clustering of PUFA profiles of algae belonging to the same phylum in a Principal Components Analysis. The major PUFA detected in all phyla were C(18) and C(20), namely linoleic, arachidonic and eicosapentaenoic acids. The obtained data showed that rhodophytes and phaeophytes have higher concentrations of PUFA, particularly from the n-3 series, thereby being a better source of these compounds. Moreover, rhodophytes and phaeophytes presented "healthier" ∑n-6/∑n-3 and PUFA/saturated fatty acid ratios than chlorophytes. Ulva was an exception within the Chlorophyta, as it presented high concentrations of n-3 PUFA, α-linolenic acid in particular. In conclusion, macroalgae can be considered as a potential source for large-scale production of essential PUFA with wide applications in the nutraceutical and pharmacological industries.