Publications by authors named "Carvalhal S"

Mutations in the Budding uninhibited by benzimidazoles (BUB1) gene were recently associated with neurodevelopmental disorders (Carvalhal et al., 2022). Here, we describe the generation and characterization of two induced pluripotent stem cells (iPSC) clones from a young female with microcephaly.

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Peritoneal sarcomatosis is a rare malignant disease with a poor prognosis, secondary to peritoneal dissemination of abdominopelvic soft tissue sarcomas. Its rarity, together with the characteristic histological heterogeneity and the historically poor response to systemic treatments, has prevented the establishment of widely accepted treatment criteria with curative intent. In this sense, radical cytoreductive surgery (CRS) with peritonectomy procedures and hyperthermic intraperitoneal chemotherapy (HIPEC), widely used in peritoneal carcinomatosis with excellent results, have not had the same evolutionary development in patients with peritoneal sarcomatosis.

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Accumulation of visceral adipose tissue is associated with metabolic syndrome (MS), insulin resistance, and dyslipidemia. Here we examined several morphometric and biochemical parameters linked to MS in a rodent litter size reduction model, and how a 30-day fish oil (FO) supplementation affected these parameters. On day 3 post-birth, pups were divided into groups of ten or three.

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Here we investigate metabolic changes, the antioxidant system and the accumulation of oxidative damage in muscles with different fiber types during the aging process in Wistar rats and try to map how sooner the changes occur. To do so, 30 male Wistar rats were submitted to behavioral evaluation to determine voluntary strength in the 11, 15, and 19 month old rats, measuring the energy metabolism, antioxidant system, oxidative damage and structure in the soleus and extensor digitorum longus muscles. We detected structural and metabolic changes in both muscles, especially in the EDL of 15 month old rats and in the soleus of 19 month old rats.

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Glioblastoma (GBM) is an aggressive, common brain cancer known to disrupt redox biology, affecting behavior and DNA integrity. Past research remains inconclusive. To further understand this, an investigation was conducted on physical training's effects on behavior, redox balance, and genomic stability in GBMA models.

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Background: Skin metastases are an important co-morbidity in melanoma. Despite broad adoption, electrochemotherapy implementation is hindered by a lack of treatment indications, uncertainty regarding procedural aspects, and the absence of quality indicators. An expert consensus may harmonize the approach among centres and facilitate comparison with other therapies.

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Aims: While cardiac magnetic resonance (CMR) is often obtained early in the evaluation of suspected cardiac amyloidosis (CA), it currently cannot be utilized to differentiate immunoglobulin (AL) and transthyretin (ATTR) CA. We aimed to determine whether a novel CMR and light-chain biomarker-based algorithm could accurately diagnose ATTR-CA.

Methods And Results: Patients with confirmed AL or ATTR-CA with typical late gadolinium enhancement (LGE) and Look-Locker pattern for CA on CMR were retrospectively identified at three academic medical centres.

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Teachers can contribute to preventing and solving cyberbullying situations. Therefore, it is relevant to investigate what may influence their involvement and actions concerning this phenomenon. A first study analyze teachers' definitions of cyberbullying, how they would intervene and feel morally implicated with the phenomenon.

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Background And Objectives: Kaposi's sarcoma (KS) is a locally aggressive mesenchymal tumor that involves the lymphovascular system, with a tendency to become multifocal. Electrochemotherapy (ECT) is considered a valuable treatment option in selected patients with cutaneous and subcutaneous KS lesions.

Methods: We report a retrospective study that included 14 classic and endemic KS patients that underwent ECT sessions for the treatment of KS cutaneous and subcutaneous lesions at our institution.

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Article Synopsis
  • BUD1 mutations lead to significant health issues in two patients, including microcephaly and intellectual disabilities.
  • These mutations impair crucial cellular functions during mitosis, resulting in prolonged mitosis, chromosome missegregation, and anomalies in cell division.
  • The study suggests that these mutations contribute to neurodevelopmental disorders and share similarities with other known genetic syndromes related to cell division and cohesion.
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Anorectal malignant melanoma (AMM) is a rare malignant tumor. Surgery remains the gold standard but new adjuvant treatments to allow local sphincter-saving are warranted. Electrochemotherapy (ECT) is an alternative to surgery in selected cohorts of patients.

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Advanced papillary thyroid carcinoma (PTC) with cutaneous metastases may cause pain, ulceration, and bleeding. Electrochemotherapy (ECT) is a minimally invasive treatment of tumors located in the skin and subcutaneous tissue. The electric pulses potentiate the toxicity of cytostatic agents entering the tumor cell.

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Epidermolysis Bullosa (EB) is a rare group of diseases caused by genetic variants in skin structural proteins. EB is characterized by varying degrees of skin fragility, blisters and impaired wound healing, and is classified based on the ultrastructural levels of skin cleavage-simplex, junctional, dystrophic, and Kindler Syndrome. Squamous cell carcinoma (SCC) is the most severe complication and most common cause of death of patients with EB, particularly in those with recessive dystrophic Epidermolysis Bullosa (RDEB).

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Objective: The purpose of this single-blind (evaluators) and parallel design study was to evaluate whether exposure to a cola-based soft drink during bleaching treatment with 35% hydrogen peroxide (HP) affects color change and bleaching-induced tooth sensitivity.

Material And Methods: Forty-four patients with central incisors darker than A2 were selected. Participants who did not drink cola-based soft drinks were assigned to the control group (CG), while participants who drank a cola-based soft drink at least twice a day were assigned to the experimental group (EG).

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Sister chromatid cohesion mediated by cohesin is essential for mitotic fidelity. It counteracts spindle forces to prevent premature chromatid individualization and random genome segregation. However, it is unclear what effects a partial decline of cohesin may have on chromosome organization.

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Asymmetric cell divisions depend on the precise placement of the spindle apparatus. In mammalian oocytes, spindles assemble close to the cell's center, but chromosome segregation takes place at the cell periphery where half of the chromosomes are expelled into small, nondeveloping polar bodies at anaphase. By dividing so asymmetrically, most of the cytoplasmic content within the oocyte is preserved, which is critical for successful fertilization and early development.

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Introduction: Centrally inserted central catheter (CICC) insertion is a commonly performed procedure that may give rise to different complications. Despite the suggestion of guidelines to use ultrasound guidance (USG) for vascular access, not all centers use it systematically. The aim of this study is to illustrate the experience with ultrasound in CICC placement at a high-volume oncological center, in a country where the landmark technique is standard.

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Objective: The aim of this study was to evaluate the association between tooth loss and the signs and symptoms of temporomandibular disorders (TMDs).

Materials And Methods: One hundred fifty patients with an average age of 49.2 (±14.

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Objective: To evaluate the dimensional changes, reproduction of details, and surface roughness of a type IV cast and a resin used to fabricate dental models.

Materials And Methods: Two commercial brands of materials were evaluated: a type IV synthetic cast (Fuji Rock) and a polyol resin (Novox). Twenty samples were obtained from polyvinyl siloxane molds that reproduced the surface of a metal master model standardized according to the American National Standards Institute/American Dental Association specification no.

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PHD1 (also known as EGLN2) belongs to a family of prolyl hydroxylases (PHDs) that are involved in the control of the cellular response to hypoxia. PHD1 is also able to regulate mitotic progression through the regulation of the crucial centrosomal protein Cep192, establishing a link between the oxygen-sensing and the cell cycle machinery. Here, we demonstrate that PHD1 is phosphorylated by CDK2, CDK4 and CDK6 at S130.

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The formation of the mitotic spindle is a complex process that requires massive cellular reorganization. Regulation by mitotic kinases controls this entire process. One of these mitotic controllers is Aurora A kinase, which is itself highly regulated.

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Ampelozizyphus amazonicus is used in the treatment and prevention of malaria. The effect of an aqueous extract from this plant (SART) on the immune response was investigated by measuring immunoglobulin production induced by immunization with the antigen TNP-Ficoll in Plasmodium chabaudi-infected mice. SART treatment increased antigen-specific IgM and IgG levels in TNP-Ficoll-immunized mice.

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Centrosomes and cilia are critical eukaryotic organelles which have been in the spotlight in recent years given their implication in a myriad of cellular and developmental processes. Despite their recognized importance and intense study, there are still many open questions about their biogenesis and function. In the present article, we review the existing data concerning members of the tubulin folding pathway and related proteins, which have been identified at centrosomes and cilia and were shown to have unexpected roles in these structures.

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