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BACKGROUND: This study aimed to explore the clinical, histopathologic, and immunohistochemical characteristics of myofibromas (MFs) affecting the head and neck region. MATERIAL AND METHODS: Formalin-fixed paraffin-embedded tissue blocks of patients diagnosed with MFs in the head and neck were retrieved from the archives of three oral and maxillofacial pathology laboratories. Data including clinical, radiographic, microscopic and immunohistochemical findings, treatment employed, and follow-up status were retrieved from the patient's medical records or pathology reports. RESULTS: Sixteen cases were included in the study. Females were slightly more affected than males. The first and second decades of life were more prevalent. The most common locations were the alveolar ridge and cheek. Although rare, some of the patients were presented with intraosseous lesions. Microscopically, tumors consisted of plump, spindle-shaped myofibroblasts arranged in whorls or fascicles with varying degrees of differentiation. Immunohistochemically, diffuse positivity for vimentin and α-SMA was observed, while Ki-67 mostly showed low immunoreactivity (<5%). Treatment primarily involved complete excision. CONCLUSIONS: MFs in the head and neck region are rare and predominantly affect female patients during the second decade of life. Despite their rarity, central MFs should be considered in the differential diagnosis of intraosseous lesions in infants.
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Cowpea is a leguminous plant belonging to the fabaceae family cultivated in the North and Northeast regions of Brazil, with productive potential. Among the abiotic factors, water deficiency is one of the main environmental limitations that influence agricultural production in the world. The objective of this work was to study the relative water content and osmoregulators of cowpea plants subjected to water stress. The experiment was carried out in a greenhouse at the Universidade Federal Rural da Amazônia (UFRA, Belém, PA), cowpea plants BR-17 Gurguéia Vigna unguiculata (L.) Walp were used. The experimental design was completely randomized (DIC) in a 2 × 2 factorial scheme, two water conditions (control and water deficit) and two times of stress (four and six days of water suspension), with 7 replications, totaling 28 experimental units. The water deficit affected plants, causing a reduction in relative water content (69.98%), starch (12.84% in leaves and 23.48% in roots) and carbohydrates (84.34%), and an increase in glycine-betaine, sucrose (114.11% in leaves and 18.71% in roots) and proline (358.86%) at time 2. The relative water content was negatively affected by water conditions, with a decrease in relation to the interaction of the aerial part and the root system. Therefore, greater metabolic responses were noted in plants that were subjected to stress treatment at time 2 (6 days).
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Vigna , Agua , Deshidratación , Osmorregulación/fisiología , Betaína/análisisRESUMEN
INTRODUCTION: Although some studies have reported the association between uric acid (UA) and hypertension, evidence on prehypertension is still lacking. Therefore, the objective of this study was to determine the levels of UA and other cardiovascular markers among prehypertensive and hypertensive patients and assess their risk for developing arterial hypertension. METHODS: 157 individuals were recruited: 67 normotensive, 23 pre-hypertensive and 67 hypertensive. Blood samples were collected to measure biochemical parameters and anthropometric measurements and blood pressure were evaluated. We calculated the product of lipid accumulation and the visceral adiposity index to assess cardiovascular risk. RESULTS: Our data showed an increase in UA levels in normotensives (4.9±1.3mg/dL), prehypertensives (5.2±1.3mg/dL) and hypertensives (5.9±1.6mg/dL) (p=0.004). We found a higher frequency of hyperuricemia in the hypertensive group (34.3%) than in the normotensive group (13.4%, p<0.05). Hypertensive volunteers had lower levels of HDL-C (p=0.004 and p=0.003) and higher body mass indexes (p<0.001 and p=0.007), glucose (p<0.001 and p=0.033), triglycerides (p=0.001 and p=0.005), visceral adiposity index (p<0.001 and p=0.002) and lipid accumulation product (p<0.001 and p=0.007) than normotensive and prehypertensive participants. We also observed that individuals with UA≥6.2mg/dL had an increased risk of hypertension of 4.77 (p=0.003) compared to individuals with levels≤4.3mg/dL. CONCLUSION: Our results showed that UA is associated with increased blood pressure and unfavorable changes in anthropometric and biochemical parameters, which represent risk factors for hypertension and cardiovascular diseases.
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Biomarcadores , Hipertensión , Prehipertensión , Ácido Úrico , Humanos , Ácido Úrico/sangre , Hipertensión/sangre , Masculino , Prehipertensión/sangre , Prehipertensión/diagnóstico , Prehipertensión/fisiopatología , Femenino , Persona de Mediana Edad , Adulto , Biomarcadores/sangre , Hiperuricemia/sangre , Hiperuricemia/complicaciones , Estudios Transversales , Índice de Masa Corporal , Presión Sanguínea , Enfermedades Cardiovasculares/etiología , Enfermedades Cardiovasculares/sangreRESUMEN
We investigate chaotic impurity transport in toroidal fusion plasmas (tokamaks) from the point of view of passive advection of charged particles due to E×B drift motion. We use realistic tokamak profiles for electric and magnetic fields as well as toroidal rotation effects, and consider also the effects of electrostatic fluctuations due to drift instabilities on particle motion. A time-dependent one degree-of-freedom Hamiltonian system is obtained and numerically investigated through a symplectic map in a Poincaré surface of section. We show that the chaotic transport in the outer plasma region is influenced by fractal structures that are described in topological and metric point of views. Moreover, the existence of a hierarchical structure of islands-around-islands, where the particles experience the stickiness effect, is demonstrated using a recurrence-based approach.
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BACKGROUND: Graft-versus-host disease (GVHD) is an immune system reaction that occurs in patients with a history of hematopoietic stem cell transplantation (HSCT), in which the grafted donor's cells attack those of the host. The objective of this systematic review was to present a study on oral squamous cell carcinoma (OSSC) that developed from GVHD areas in patients undergoing HSCT. MATERIAL AND METHODS: An electronic search was conducted in the databases PUBMED, WEB OF SCIENCE, SCOPUS, MEDLINE and SCIENCE DIRECT, according to PRISMA guidelines. RESULTS: Of the 1582 results, 23 articles were included, resulting in 81 cases. The most common underlying disease for performing the transplant was Myeloid Leukemia (55.6%). The mean age was 39 years, with a predilection for males (64.2%). The tongue was the site of GVHD that most frequently underwent transformation to SCC (59.3%). The average time between transplantation and the development of GVHD was of approximately of 8 months, while the average period of development between transplantation and the development of OSCC was of approximately of 111 months. The most common treatment to GVHD was cyclosporine associated with corticosteroids. CONCLUSIONS: OSCCs arising from areas of GVHD present a different evolution from conventional oral carcinomas, since they affect younger patients, smoking and alcohol are not important etiological factors and finally because they present good prognosis, but further studies with larger number cases followed are needed to confirm our findings.
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Carcinoma de Células Escamosas , Enfermedad Injerto contra Huésped , Neoplasias de Cabeza y Cuello , Neoplasias de la Boca , Masculino , Humanos , Adulto , Carcinoma de Células Escamosas/complicaciones , Carcinoma de Células Escamosas de Cabeza y Cuello/complicaciones , Neoplasias de la Boca/etiología , Enfermedad Injerto contra Huésped/complicaciones , Neoplasias de Cabeza y Cuello/complicacionesRESUMEN
BACKGROUND: Incisional biopsy is indicated for intraoral tumors, but it is a contraindicated surgical procedure for major salivary glands. To avoid complications and facilitate diagnosis, fine needle aspiration biopsy (FNAB) is a type of biopsy widely used for preoperative diagnosis in these glands. MATERIAL AND METHODS: The aim of this study was to analyze the agreement between the diagnosis by FNAB (major glands), incisional biopsy (minor glands) and histopathological analysis of the surgical specimen in salivary gland tumors from a database (medical records) of patients treated in a cancer treatment reference center in the Northeast region of Brazil. RESULTS: The sample consisted of 110 cases, being 86 of them malignant tumors in major salivary glands (parotid gland=73; submandibular gland=13) and 24 cases in minor salivary glands (palate). The female gender was the most affected (57.3%), especially in patients over 60 years (42.7%). In the TNM classification, 41.8% of the cases were in T2 at the time of diagnosis, with most of the regional lymph nodes in N0 (85.5%) and 87.3% of the cases in M0. FNAB was able to identify malignant neoplasms in 68.6% of the cases (n=59), while incisional biopsy in palatal tumors obtained agreement of 75% of the cases (n=18). The analysis revealed that tumors classified as T3-T4 (p=0.012) showed greater agreement between pre- and post-surgical diagnosis. CONCLUSIONS: The results obtained in this study indicate that FNAB has similar accuracy to incisional biopsy in providing satisfactory preoperative diagnoses of malignant tumors in salivary glands.
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Neoplasias de las Glándulas Salivales , Humanos , Femenino , Biopsia con Aguja Fina/métodos , Sensibilidad y Especificidad , Estudios Retrospectivos , Neoplasias de las Glándulas Salivales/patología , Glándulas SalivalesRESUMEN
The E×B drift motion of particles in tokamaks provides valuable information on the turbulence-driven anomalous transport. One of the characteristic features of the drift motion dynamics is the presence of chaotic orbits for which the guiding center can experience large-scale drifts. If one or more exits are placed so that they intercept chaotic orbits, the corresponding escape basins structure is complicated and, indeed, exhibits fractal structures. We investigate those structures through a number of numerical diagnostics, tailored to quantify the final-state uncertainty related to the fractal escape basins. We estimate the escape basin boundary dimension through the uncertainty exponent method and quantify final-state uncertainty by the basin entropy and the basin boundary entropy. Finally, we recall the Wada property for the case of three or more escape basins. This property is verified both qualitatively and quantitatively using a grid approach.
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The water deficit in particular, reduces the productivity of vegetable crops. To minimize these harmful effects on agriculture, several agronomic and physiological practices are being studied, such as the use of bacteria and water stress attenuators, such as brassinosteroids. Considering the socioeconomic relevance of corn culture and its sensitivity when exposed to water deficit, the objective of the present study was to evaluate the action of brassinosteroids and azospirillum on nitrogen metabolism in corn plants subjected to water stress conditions. The experiment was carried out in a greenhouse, in a period of 47 days, with corn plants, using the hybrid K9606 VIP3. The design was completely randomized, in a 2x2x3 factorial scheme, with six replications. The first factor corresponds to two water regimes (presence and absence of water deficit). The second corresponds to inoculation via seed of Azospirillum brasiliense and absence of inoculation. And the third corresponds to the application of three concentrations of brassinosteroids (0, 0.3 and 0.6 µM). Were determined Nitrate; nitrate reductase; free ammonium; total soluble aminoacids; soluble proteins; proline; glycine betaine and glutamine synthetase. The lack of water in plants provided a reduction in the protein and nitrate reductase contents, in leaves and roots. For ammonium, plants with water deficit inoculated at a concentration of 0.3 µM, obtained an increase of 7.16 (70.26%) and 13.89 (77.04%) mmol NH4 + .Kg-1. DM (Dry mass) on the leaf and root respectively. The water deficit in the soil provided significant increases in the concentrations of glycine betaine, nitrate, proline and aminoacids, both in the leaves and in the roots of the corn plants. On the other hand, the contents of glutamine synthetase had a reduction in both leaves and roots.
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Compuestos de Amonio , Azospirillum brasilense , Zea mays , Brasinoesteroides/metabolismo , Nitratos , Raíces de Plantas/metabolismo , Sequías , Deshidratación/metabolismo , Betaína/metabolismo , Glutamato-Amoníaco Ligasa , Aminoácidos/metabolismo , Prolina/metabolismo , Nitrato Reductasas/metabolismo , Nitrógeno/metabolismoRESUMEN
The cowpea bean [Vigna unguiculata (L.) Walp.], a legume of great socioeconomic importance, it was previously cultivated exclusively for subsistence and commercial purposes, especially in the North and Northeast regions. This crop has a low production cost and high nutritional value, in addition to a high potential for productivity growth and expansion to other regions. The objective of this work was to evaluate parameters of growth and production in cowpea culture, as a function of potassium fertilization in soil of the cerrado of Amapá. The parameters of growth and production of the cowpea culture were evaluated, as a function of potassium fertilization in the soil of the cerrado of Amapá. The experiment was conducted in a greenhouse, using a completely randomized experimental design, with four replications, in a 5x2 factorial scheme, totaling 40 experimental units, which were composed of plastic pots containing 7 dm3 of soil collected from the arable layer (0-20 cm ) of a typical Hyperdystrophic Yellow Argisol, with a sandy clay loam texture, in a cerrado area in the municipality of Porto Grande-AP. The factors consisted of the control treatment (without K), four doses of K (45, 90, 135 and 180 kg ha-1) in the form of potassium chloride, and two cowpea cultivars (Pretinho and BRS Tumucumaque). The cultivar BRS Tumucumaque shows better growth and production of cowpea plants. Doses of 90 kg ha-1 provided greater height (98.75 cm) and stem diameter (10.0 mm). As for production, the dose of 135 kg ha-1 caused greater grain weight gain (5.25 g) and dry mass of pods (13.92 g), and the doses of 90 and 180 kg ha-1 induced greater number and length of pods (3.16 pods) respectively. These results show better responsiveness of the BRS Tumucumaque cultivar at doses of 90, 135 and 180 kg ha-1 in the type of soil where the study was conducted.
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Fabaceae , Vigna , Suelo , Potasio , BrasilRESUMEN
The interest of the scientific community on sex and gender differences in health and disease has increased substantially over the past 25 to 30 y as a result of a long process of events and policies in the biomedical field. This is crucial as compelling evidence from human and animal model studies has demonstrated that sex and gender influence health, molecular and cellular processes, and response and predisposition to disease. The present scoping review aims to provide a synthesis of sex differences in oral diseases, ranging from periodontal disease to orofacial pain conditions, from risk of caries development to apical periodontitis. Overall, findings from this review further support a role for sexual dimorphism influencing disease predisposition and/or progression in oral diseases. Of note, this review also highlights the lack of consideration of additional factors such as gender and other psychosocial and external factors potentially influencing oral health and disease. New conceptual frameworks capable of capturing multiple fundamental domains and measurements should be developed in clinical and preclinical studies to inform sex-based individualized preventive and treatment strategies.
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Caries Dental , Enfermedades Periodontales , Animales , Humanos , Masculino , Femenino , Enfermedades Periodontales/prevención & control , Salud Bucal , Caries Dental/prevención & control , Susceptibilidad a Enfermedades , Caracteres SexualesRESUMEN
The safflower crop is considered a great alternative for crop rotation since drought tolerance and low production cost are attractive for its choice. However, safflower seeds show dormancy soon after dispersal from the mother plant, making it difficult to successfully establish plants using newly harvested seeds. The influence of temperature, gibberellin and light/dark on dormancy break of safflower seeds during storage were investigated. In a completely randomized design, freshly harvested seeds or stored for 100 and 200 days (paper bag, 20 °C/ 60% UR) were treated with GA3 (0 and 100 µM), at 4, 10 and 25 °C, in the presence and absence of light, during the germination test. Seeds were evaluated for germination percentage, germination speed and seedling survival after 21 days. The temperature of 10 °C, in combination with GA3 (0/100 µM), or light/dark, provided the highest seed germination results, for freshly-harvested seeds and stored seeds. Collectively, these observations indicate that dormancy was not affected by gibberellic acid (100 µM GA3) and the germination results at 21 days were significantly higher, in relation to the use of GA3, under light or dark. Recently harvested seeds could efficiently germinate at 10 °C in the dark, while seeds dry-stored at 20 °C had decreased germination percentages.
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Carthamus tinctorius , Germinación , Germinación/fisiología , Frío , Temperatura , Plantas , Semillas/fisiologíaRESUMEN
Sewage sludge (SS) has nutritional contents and has been implemented in the cultivation of seedlings. This study aimed to evaluate the quality of Malpighia emarginata DC. seedlings produced in different substrates with SS. Treatments were implemented with the addition of SS, and after 180 days seedling the characteristics were measured: aerial part and root system length, stem base diameter, number of leaves, fresh and dry mass of aerial part and root, and total biomass. The Dickson Quality Index (DQI) was calculated and the macro and micronutrient content of the aerial part and root. The accumulation of macronutrients in the root system followed the order of N>K>P>Ca>Mg>S, and aerial part of N>Ca>K>P>Mg>S, in the two vegetative structures N and S were in lower concentration. For micronutrients, the accumulation in the root system occurred with Fe>Zn>Mn>Cu>B, and aerial part with Fe>Mn>Zn>B>Cu. It was noted that in the two vegetative structures the Fe content was more concentrated. The use of SS in the substrate formulation proved effective in obtaining viable seedlings for field planting, being recommended the treatment with 60% SS + 40% organic compost.
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Compostaje , Metales Pesados , Plantones , Aguas del Alcantarillado , Hojas de la Planta/química , Suelo , Metales Pesados/análisisRESUMEN
The "timed inspiratory effort" (TIE) index, a new predictor of weaning outcome, normalizes the maximal inspiratory pressure with the time required to reach this value up to 60 s, incorporating the time domain into the assessment of inspiratory muscle function. The objective of this study was to determine whether the TIE predicts successful extubation at a similar rate as the T-piece trial with less time required. A non-inferiority randomized controlled trial was performed with ICU subjects eligible for weaning. The participants were allocated to the TIE or the T-piece groups. The primary outcome was successful weaning, and the main secondary outcome was ICU mortality. Eighty participants of each group were included in the final analysis. Time from the start of a successful test to effective extubation was significantly lower in the TIE group than in the T-piece group, 15 (10 to 24) vs 55 (40 to 75) min, P<0.001. In the Kaplan-Meier analysis, no significant differences were found in successful weaning (79.5 vs 82.5%, P=0.268) or survival rate (62.9 vs 53.8%, P=0.210) between the TIE and T-piece groups at the 30th day. In this preliminary study, the TIE index was not inferior to the T-piece trial as a decision-making tool for extubation and allowed a reduction in the decision time.
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Extubación Traqueal , Desconexión del Ventilador , Humanos , Respiración Artificial , Factores de TiempoRESUMEN
BACKGROUND: To evaluate the prevalence and clinicopathological features of a large series of gingival neoplasms in Brazil. MATERIAL AND METHODS: All gingival benign and malignant neoplasms were retrieved from the records of six Oral Pathology Services in Brazil, during a 41-year period. Clinical and demographic data, clinical diagnosis, and histopathological data were collected from the patients' clinical charts. For statistical analysis, the chi-square, median test of independent samples and the U Mann-Whitney tests were used, considering a significance of 5%. RESULTS: From 100,026 oral lesions, 888 (0.9%) were gingival neoplasms. There were 496 (55.9%) males, with a mean age of 54.2 years. Most cases (70.3%) were malignant neoplasms. Nodules (46.2%) and ulcers (38.9%) were the most common clinical appearance for benign and malignant neoplasms, respectively. Squamous cell carcinoma (55.6%) was the most common gingival neoplasm, followed by squamous cell papilloma (19.6%). In 69 (11.1%) malignant neoplasms, the lesions were clinically considered to be inflammatory or of infectious origin. Malignant neoplasms were more common in older men, appeared with larger size, and with a time of complaint shorter than benign neoplasms (p<0.001). CONCLUSIONS: Benign and malignant tumors may appear as nodules in gingival tissue. In addition, malignant neoplasms, especially squamous cell carcinoma, should be considered in the differential diagnosis of persistent single gingival ulcers.
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Carcinoma de Células Escamosas , Neoplasias Gingivales , Úlceras Bucales , Masculino , Humanos , Anciano , Persona de Mediana Edad , Femenino , Neoplasias Gingivales/patología , Brasil/epidemiología , Úlcera/diagnóstico , Carcinoma de Células Escamosas/diagnóstico , Carcinoma de Células Escamosas/epidemiología , Carcinoma de Células Escamosas/patología , Diagnóstico Diferencial , Estudios RetrospectivosRESUMEN
Water stress limits the initial growth and development of maize mass and grain, as well as the physiological process for absorbing the amount of mineral elements. The objective was to evaluate the effect of silicon on germination and growth of corn seedlings submitted to water deficit. The experiment was carried out in the laboratory and the experimental design was completely randomized (factorial 3 × 4), with three concentrations of calcium silicate (0.0; 1.0 and 2.0 mM) and 4 solutions of PEG-6000 to simulate different osmotic potentials (0, 0; -0.3; -0.6; -0.9 MPa). Germination percentage, germination speed index (GSI), mean germination time (MGT), percentage of non-germinated and abnormal germinated, length and dry matter of shoot, root and total seedlings were evaluated. Water deficiency reduced the parameters TG, GSI and MGT. The water deficit reduce the MSPA, MSR and MST with more than 80% reduction in mass from seedlings without deficiency to seedlings with deficiency. For CPA, CR and CT there was a reduction of at least 87%, 70% and 77%, respectively, among seeds without deficiency compared to seeds submitted to deficiency. The use of silicon in corn seeds did not attenuate the stress caused by water deficit simulated by PEG-6000.
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Germinación , Plantones , Zea mays , Silicio/farmacología , SemillasRESUMEN
The riverine population of the Amazon Basin are among the largest consumers of fish in the world, but the consumption patterns could be regionally distinct. Moreover, their total fish catches are not fully known. The objective of this work was to estimate the per capita fish consumption of the riverine people that inhabit the Paciência Island (Iranduba, Amazonas), where there is a fishing agreement in force. A total of 273 questionnaires were applied during the first two weeks of each month between April 2021 and March 2022. The sample unit was the residences. The questionnaire contained questions about the species captured and their quantities. Consumption was calculated by dividing the average monthly capture with the average number of residents per household interviewed, which was multiplied by the number of questionnaires applied. Thirty groups of consumed fish species belonging to 17 families and 5 orders were recorded. The total catch was 3,388.35 kg and the highest monthly catch was 602.60 kg during the falling-water season in October. Daily per capita fish consumption averaged 66.13 ± 29.21 g/day, with a peak of 116.45 g/day during the falling-water season in August. The high fish consumption rate highlighted the importance of fisheries management to food security and the maintenance of the community's lifestyle.
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Explotaciones Pesqueras , Ríos , Animales , Brasil , Estaciones del Año , Agua , PecesRESUMEN
We show that homogeneous and nonhomogeneous states of the one-dimensional self-gravitating sheets models have different ergodic properties. The former are nonergodic and the one-particle distribution function has a zero collision term if a proper limit is taken for the periodic boundary conditions. As a consequence, homogeneous states of the sheets model are nonergodic and do not relax to the equilibrium state, while nonhomogeneous states are ergodic in a time window of the order of the relaxation time to equilibrium, as similarly observed in other systems with a long range interaction.
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Apical periodontitis (AP) is a common consequence of root canal infection leading to periapical bone resorption. Microbial and host genetic factors, and their interactions, have been shown to play a role in AP development and progression. Variations in a few genes have been reported in association with AP, however, the lack of genome-wide studies has hindered progress in understanding the mechanisms involved in AP. Here, we report the first genome-wide association study of AP in a well-characterized population. Male and female adults (n=932) presenting with deep caries with AP (cases) or without AP (controls) were included. Genotyping was performed using the Illumina Expanded Multi-Ethnic Genotyping Array. Single-variant association testing was performed adjusting for sex and five principal components. Subphenotype association testing, analyses of genetically regulated gene expression, polygenic risk score and phenome-wide association (PheWAS) analyses were also performed. Eight loci reached near-genome-wide significant association with AP (p < 5 x 10-6); gene-focused analyses replicated three previously reported associations (p < 8.9 x 10-5). Sex-specific and subphenotype analyses revealed additional significant associations with variants genome-wide. Functionally oriented gene-based analyses revealed eight genes significantly associated with AP (p < 5 x 10-5), and PheWAS analysis revealed 33 phecodes associated with AP risk score (p < 3.08 x 10-5). This study identified novel genes/loci contributing to AP and revealed specific contributions to AP risk in males and females. Importantly, we identified additional systemic conditions significantly associated with AP risk. Our findings provide strong evidence for host-mediated effects on AP susceptibility.
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AIM: To evaluate bone marrow fat fraction using the Dixon technique (FFDix) of magnetic resonance imaging (MRI) as a potential biomarker of haemolysis and clinical severity in the overall assessment and follow-up of sickle cell disease (SCD) patients. MATERIAL AND METHODS: The present study was a cross-sectional study in which healthy individuals and SCD patients (matched for age, sex, and weight) were subjected to MRI of the lumbar spine and pelvis to quantify FFDix in the bone marrow using the Dixon technique. SCD severity was analysed by clinical and laboratory data, and an online calculator. A high degree of haemolysis was defined using the cut-off values haemoglobin (Hb) ≤10 g/dl, lactate dehydrogenase (LDH) ≥325 U/l, reticulocytes ≥3% and total bilirubin (TB) ≥1.2 mg/dl. Pearson's correlation, receiver operating characteristic (ROC) curve and binary logistic regression analysis were performed. RESULTS: Forty-eight SCD patients (26 homozygous: HbSS and 22 compound heterozygous: HbSC) and 48 healthy individuals participated in the study. FFDix was lower in SCD patients than in the control group, showing even lower values in the HbSS subtype and patients with a higher degree of haemolysis. HbSC patients with a higher degree of haemolysis using hydroxyurea (medium dosage 9.8 mg/kg/day) had lower FFDix. ROC curves and odds ratios for detecting patients with a higher degree of haemolysis at the different FFDix measurement sites demonstrated excellent performance: iliac bones (cut-off ≤16.75%, AUC = 0.824, p<0.001), femoral heads (cut-off ≤46.7%, AUC = 0.775, p=0.001), lumbar vertebrae (cut-off ≤7.8%, AUC = 0.755, p=0.002). CONCLUSION: Decreased FFDix is indicative of higher degree of haemolysis and SCD severity with great potential as a non-invasive biomarker contributing to the overall assessment and follow-up of SCD patients.
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Anemia de Células Falciformes , Enfermedad de la Hemoglobina SC , Humanos , Hemólisis , Médula Ósea , Estudios Transversales , Anemia de Células Falciformes/complicaciones , Anemia de Células Falciformes/diagnóstico por imagen , Hemoglobina Falciforme , BiomarcadoresRESUMEN
INTRODUCTION: Osteogenesis imperfecta (OI) is a genetically and clinically heterogeneous disorder caused by disruption of type I collagen synthesis. Previous Brazilian molecular OI studies have been restricted to case reports or small cohorts. The Brazilian OI Network (BOIN) is a multicenter study collecting clinical OI treatment data from five reference centers in three regions of Brazil. OBJECTIVE: To describe the molecular analysis of a large cohort of OI registered at BOIN. METHODS: Targeted next-generation sequencing (NGS) was performed at a centralized laboratory with the Ion Torrent platform, covering 99.6 % of the coding regions of 18 OI-associated genes. Clinical information was obtained from a clinical database. RESULTS: We included 156 subjects in the molecular analyses. Variants were detected in 121 subjects: 65 (53.7 %) in COL1A1, 42 (34.7 %) in COL1A2, 2 (1.7 %) in IFITM5, one (0.8 %) in CRTAP, three (2.5 %) in P3H1, two (1.7 %) in PPIB, four (3.3 %) FKBP10, one (0.8 %) in SERPINH1, and one (0.8 %) in TMEM38B. Ninety-one distinct variants were identified, of which 26 were novel. Of the 107 variants identified in COL1A1 and COL1A2, 24.5 % cause mild OI, while the remaining 75.5 % cause moderate, severe, or lethal OI, of which 49.3 % are glycine to serine substitutions. A single variant in FKBP10 (c.179A>C; p.Gln60Pro) was found in three unrelated and non-consanguineous participants living in the same geographic area in Northeast Brazil, suggesting a possible founder effect. CONCLUSION: Consistent with the literature, 88.4 % of the subjects had a variant in the COL1A1 and COL1A2 genes, with 10 % inherited in an autosomal recessive manner. Notably, one variant in FKBP10 with a potential founder effect requires further investigation. Data from this large cohort improves our understanding of genotype-phenotype correlations for OI in Brazil.