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2.
Sci Rep ; 12(1): 20113, 2022 Nov 22.
Artículo en Inglés | MEDLINE | ID: mdl-36418495

RESUMEN

The Standard Cosmological Model has experienced tremendous success at reproducing observational data by assuming a universe dominated by a cosmological constant and dark matter in a flat geometry. However, several studies, based on local measurements, indicate that the universe is expanding too fast, in disagreement with the Cosmic Microwave Background. Taking into account combined data from CMB, Baryon Acoustic Oscillation, and type Ia Supernovae, we show that if the mechanism behind the production of dark matter particles has at least a small non-thermal origin, one can induce larger values of the Hubble rate [Formula: see text], within the [Formula: see text]CDM, to alleviate the trouble with [Formula: see text]. In the presence of non-standard cosmology, however, we can fully reconcile CMB and local measurements and reach [Formula: see text]-74 [Formula: see text].

4.
J Eur Acad Dermatol Venereol ; 34(10): 2392-2401, 2020 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-32239545

RESUMEN

BACKGROUND: Xeroderma pigmentosum (XP) patients present a high risk of developing skin cancer and other complications at an early age. This disease is characterized by mutations in the genes related to the DNA repair system. OBJECTIVES: To describe the clinical and molecular findings in a cohort of 32 Brazilian individuals who received a clinical diagnosis of XP. METHODS: Twenty-seven families were screened for germline variants in eight XP-related genes. RESULTS: All patients (N = 32) were diagnosed with bi-allelic germline pathogenic or potentially pathogenic variants, including nine variants previously undescribed. The c.2251-1G>C XPC pathogenic variant, reported as the founder mutation in Comorian and Pakistani patients, was observed in 15 cases in homozygous or compound heterozygous. Seven homozygous patients for POLH/XPV variants developed their symptoms by an average age of 7.7 years. ERCC2/XPD, DDB2/XPE and ERCC5/XPG variants were found in a few patients. Aside from melanoma and non-melanoma skin tumours, a set of patients developed skin sebaceous carcinoma, leiomyosarcoma, angiosarcoma, mucoepidermoid carcinoma, gastric adenocarcinoma and serous ovarian carcinoma. CONCLUSIONS: We reported a high frequency of XPC variants in 32 XP Brazilian patients. Nine new variants in XP-related genes, unexpected non-skin cancer lesions and an anticipation of the clinical manifestation in POLH/XPV cases were also described.


Asunto(s)
Xerodermia Pigmentosa , Brasil , Niño , Reparación del ADN , Mutación de Línea Germinal , Homocigoto , Humanos , Mutación , Xerodermia Pigmentosa/genética , Proteína de la Xerodermia Pigmentosa del Grupo D/genética
5.
Arq. bras. med. vet. zootec. (Online) ; 72(2): 637-640, Mar./Apr. 2020. tab
Artículo en Portugués | LILACS, VETINDEX | ID: biblio-1128495

RESUMEN

The objective of this research was to estimate the correlations between the biometric and reproductive parameters of Melipona scutelaris. Four collections were performed with 30-day intervals, consisting of the evaluation of each colony, considering the following parameters: honey pot size and volume (HPS and VHP), estimated honey production (EHP), number of combs (NC), mean diameter of the combs (MDC), height of the combs (HC), height of rearing cells (HRC), number of pups (NP) population (POP) and wax envelope in pups. The data were analyzed using the SAS software (2004), and the Pearson correlation coefficient was used for the correlation calculations. The correlations of the studied variables of production and biometrics of Melipona scutellaris colonies made it possible to perceive that the variable number of honey pots (NHP) present a higher correlation with HPS, EPH, DMC, HRC, NP and POP, followed by size of pots of honey (HPS) with: VHP, EHP, MDC, HC and POP. For future studies using the productive and biometric characteristics of the bees Melipona scutellaris can be considered for EPH, VHP, EPH, NC and POP, as variable responses.(AU)


Asunto(s)
Animales , Abejas/genética , Biometría , Miel
6.
J Mech Behav Biomed Mater ; 104: 103667, 2020 04.
Artículo en Inglés | MEDLINE | ID: mdl-32174425

RESUMEN

Tooth loss is a problem that affects both old and young people. It may be caused by several conditions, such as poor oral hygiene, lifestyle choices or even diseases like periodontal disease, tooth grinding or diabetes. Nowadays, replacing a missing tooth by an implant is a very common process. However, many limitations regarding the actual strategies can be enumerated. Conventional screwed implants tend to induce high levels of stress in the peri-implant bone area, leading to bone loss, bacterial bio-film formation, and subsequent implant failure. In this sense, root-analogue dental implants are becoming promising solutions for immediate implantation due to their minimally invasive nature, improved bone stress distribution and because they do not require bone drilling, sinus lift, bone augmentation nor other traumatic procedures. The aim of this study was to analyse and compare, by means of FEA, the stress fields of peri-implant bone around root-analogue and screwed conventional zirconia implants. For that purpose, one root-analogue implant, one root-analogue implant with flaps, two conventional implants (with different threads) and a replica of a natural tooth were modelled. COMSOL was used to perform the analysis and implants were subjected to two simultaneous loads: 100 N axially and 100 N oblique (45°). RESULTS: revealed that root-analogue implants, namely with flaps, should be considered as promising alternatives for dental implant solutions since they promote a better stress distribution in the cortical bone when compared with conventional implants.


Asunto(s)
Implantes Dentales , Adolescente , Simulación por Computador , Hueso Cortical , Análisis del Estrés Dental , Análisis de Elementos Finitos , Humanos , Estrés Mecánico
7.
Arq. bras. med. vet. zootec. (Online) ; 70(5): 1383-1387, set.-out. 2018. ilus
Artículo en Inglés | LILACS, VETINDEX | ID: biblio-946855

RESUMEN

The aim of this report was to describe the magnetic resonance imaging (MRI) and pathological features of a canine mixed glioma. A 12-year-old boxer male dog was presented for necropsy along with data from an MRI evaluation conducted ante-mortem. The images were examined and showed a poorly demarcated prosencephalic lesion, hyperintense on T2W images, hypointense on T1W images and heterogeneously hyperintense on T2W FLAIR images. There was mild nonuniform contrast enhancement, apparent midline shift, moderate perilesional edema and marked distortion of the adjacent lateral ventricle. The brain was evaluated macroscopically, microscopically and immunohistochemically. Grossly, there was a poorly demarcated soft mass, with areas of hemorrhage, within the left parietal and temporal lobes. Histologically, there was a densely cellular mass composed of two geographically distinct populations of neoplastic cells. The first population was composed of small and round cells organized in a honeycomb pattern. The second population constituted of intermingled streams and bundles of neoplastic cells that were strongly immunolabeled for glial fibrillary acidic protein (GFAP). The diagnosis of a mixed glioma was based on MRI findings, and mainly on histological and immunohistochemical findings.(AU)


O objetivo deste relato foi descrever as características patológicas e das imagens de ressonância magnética de um glioma misto canino. Um cão de 12 anos de idade da raça Boxer foi submetido à necropsia. As imagens obtidas ante mortem por ressonância magnética foram analisadas, e nelas se observou uma lesão prosencefálica com contornos pouco definidos, sinal hiperintenso nas imagens ponderadas em T2, hipointenso nas imagens ponderadas em T1, e heterogeneamente hiperintenso em T2-FLAIR. Havia discreto realce desuniforme ao contraste, evidente desvio da linha média, edema perilesional moderado e marcada distorção do ventrículo lateral adjacente. O encéfalo foi avaliado macroscopicamente, microscopicamente e imuno-histoquimicamente. Macroscopicamente, havia uma massa pobremente demarcada, com áreas de hemorragia, nos lobos parietal e temporal esquerdos. Histologicamente, havia uma massa densamente celular, composta por duas populações de células neoplásicas distintas separadas geograficamente. A primeira população era composta por células pequenas e redondas, organizadas com aspecto de favo de mel. A segunda população era constituída por feixes entrelaçados de células neoplásicas fortemente imunomarcadas para a proteína fibrilar ácida glial (GFAP). O diagnóstico de glioma misto foi obtido com base nos achados imaginológicos e, principalmente, em suas características histológicas e imuno-histoquímicas.(AU)


Asunto(s)
Animales , Perros , Perros/anomalías , Glioma/diagnóstico , Espectroscopía de Resonancia Magnética , Autopsia/veterinaria
8.
J Acoust Soc Am ; 142(5): 2866, 2017 11.
Artículo en Inglés | MEDLINE | ID: mdl-29195424

RESUMEN

Analytical expressions of the absorption, scattering, and elastic radiation force efficiency factors are derived for the longitudinal plane wave scattering by a small viscoelastic particle in a lossless solid matrix. The particle is assumed to be much smaller than the incident wavelength, i.e., the so-called long-wavelength (Rayleigh) approximation. The efficiencies are dimensionless quantities that represent the absorbed and scattering powers and the elastic radiation force on the particle. In the quadrupole approximation, they are expressed in terms of contrast functions (bulk and shear moduli, and density) between the particle and solid matrix. The results for a high-density polyethylene particle embedded in an aluminum matrix agree with those obtained with the partial wave expansion method. Additionally, the connection between the elastic radiation force and forward scattering function is established through the optical theorem. The present results should be useful for ultrasound characterization of particulate composites, and the development of implanted devices activated by radiation force.

9.
J Acoust Soc Am ; 142(5): 2881, 2017 11.
Artículo en Inglés | MEDLINE | ID: mdl-29195480

RESUMEN

The scattering of a longitudinal Bessel beam of arbitrary order by a sphere embedded in an isotropic solid matrix is theoretically analyzed. The spherical inclusion can be made of a viscoelastic, elastic, or fluid-filled isotropic material. In the analysis, the absorbing, scattering, and extinction efficiency factors are obtained, e.g., the corresponding power per characteristic beam intensity per sphere's cross-section area. Furthermore, the extended optical theorem, which expresses the extinction efficiency in terms of an integral of the longitudinal scattering function is derived. Several features of zeroth- and first-order Bessel beams scattering in solids are illustrated considering a polymer adhesive (cured) sphere embedded in a stainless steel matrix. For instance, omnidirectional scattering can be achieved by choosing specific values of the half-cone angle of the Bessel beam, which is the beam's geometrical parameter. Additionally, it is demonstrated that mode suppression leads to lower absorption inside the inclusion when compared to plane wave scattering results.

11.
Ultrasonics ; 71: 1-11, 2016 09.
Artículo en Inglés | MEDLINE | ID: mdl-27254398

RESUMEN

We provide a detailed analysis on the acoustic radiation force and torque exerted on a homogeneous viscoelastic particle in the long-wave limit (i.e. the particle radius is much smaller than the incident wavelength) by an arbitrary wave. We assume that the particle behaves as a linear viscoelastic solid, which obeys the fractional Kelvin-Voigt model. Simple analytical expressions for the radiation force and torque are obtained. The developed theory is used to describe the interaction of acoustic waves (traveling and standing plane waves, and zero- and first-order Bessel beams) in the MHz-range with polymeric particles, namely lexan, low-density (LDPE) and high-density (HDPE) polyethylene. We found that particle absorption is chiefly the cause of the radiation force due to a traveling plane wave and zero-order Bessel beam when the frequency is smaller than 5MHz (HDPE), 3.9MHz (LDPE), and 0.9MHz (lexan). Whereas in a standing wave field, the radiation force is mildly changed due to dispersion inside the particle. We also show that the radiation torque caused by a first-order Bessel beam varies nearly quadratic with frequency. These findings may enable new possibilities of particle handling in acoustophoretic techniques.

12.
Eur J Clin Microbiol Infect Dis ; 32(1): 27-32, 2013 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-22855366

RESUMEN

The aim of this study was to evaluate if the presence of periodontal infections (PI) is associated with community-acquired pneumonia (CAP) in a group of patients admitted to a hospital. A total of 140 patients were enrolled in this case-control study, with 70 patients having CAP (case group) and the other 70 patients diagnosed with other systemic diseases (control group). A periodontal examination was carried out to assess pocket probing depth (PPD), clinical attachment loss (CAL), bleeding on probing (BOP), and presence of bacterial plaque (BP). CAL and BOP showed higher scores in the case group over the control group. They were, respectively, 3.16 ± 2.43 mm and 0.33 ± 0.24 % for the case group, and 1.99 ± 2.23 mm and 0.25 ± 0.24 % for the control group (p < 0.05). High scores for BP were observed in both groups (case: 97.1 %; control: 98.6 %, p = 1.0000). Chronic periodontitis (CP) was more frequent in patients with CAP (case: 61.4 %; control: 41.4 %). The presence of moderate or severe CP increased the risk for CAP [odds ratio (OR) = 4.4, 95 % confidence interval (CI) = 1.4-13.8], even when adjusted for age, ethnicity, gender, and smoking. Moderate and severe chronic periodontitis were associated with CAP in this study.


Asunto(s)
Infecciones Comunitarias Adquiridas/epidemiología , Periodontitis/complicaciones , Periodontitis/patología , Neumonía/epidemiología , Adulto , Estudios de Casos y Controles , Enfermedad Crónica , Femenino , Humanos , Masculino , Persona de Mediana Edad , Periodontitis/diagnóstico , Índice de Severidad de la Enfermedad
13.
Arq. bras. med. vet. zootec ; 64(5): 1177-1183, out. 2012. ilus, tab
Artículo en Inglés | LILACS | ID: lil-655889

RESUMEN

Cerebrovascular accidents (CVA) are important causes of neurological clinical signs in dogs. The objective of this work was to describe concurrent diseases and ultrasonographic features in dogs with CVA confirmed through postmortem evaluation. All medical records of transcranial Doppler ultrasonography (TCDUS) examinations performed in 512 dogs between 2007 and 2009 were reviewed, searching for history and clinical diagnosis, as well as sonographic and histological results. Forty-two dogs were selected, showing acute onset of clinical signs with no progressive focal cerebral dysfunction and diagnosis of cerebrovascular disease confirmed at necropsy. Concurrent diseases and conditions were: cerebral amyloid microangiopathy (33%), endocrinopathies (31%), coagulopathy (24%), Schnauzer hyperlipemia (7%) and unknown (5%). The relation between sonography and histology results indicated 100% sensitivity and 90% specificity for focal lesion detection. A diffuse decrease in echogenicity was related to inflammatory diseases and/or edema with 62% sensitivity. A diffuse increase in echogenicity has 100% sensitivity and was usually related to aging changes. This study showed the occurrence of coexisting diseases with CVA and sonographic features of these conditions in small breed dogs.


O diagnóstico de acidente vascular cerebral (AVC) em cães é considerado importante causa de sinais clínicos neurológicos. Este trabalho objetivou descrever as doenças concomitantes e os aspectos sonográficos em cães com AVC confirmados por meio da avaliação post-mortem. Foram revisados os exames de ultrassonografia Doppler transcraniana (USDTC) realizados em 512 cães entre os anos de 2007 e 2009, pesquisando-se o histórico e o diagnóstico clínico, assim como os achados ultrassonográficos e histológicos. Destes, foram selecionados 42 cães que apresentavam sinais clínicos agudos de alteração cerebral focal não progressiva, e o diagnóstico de AVC foi confirmado na necropsia. As doenças e as condições clínicas concomitantes foram: microangiopatia amiloide cerebral (33%), endocrinopatias (31%), coagulopatias (24%), hiperlipemia do Schnauzer (7%) e inconclusivo (5%). Relacionando-se os resultados ultrassonográficos e histológicos, observaram-se 100% de sensibilidade e 90% de especificidade para a detecção de lesões focais. O diagnóstico de diminuição difusa da ecogenicidade foi relacionado a processos inflamatórios e/ou edema com 62% de sensibilidade. O diagnóstico de aumento difuso da ecogenicidade apresentou 100% de sensibilidade e estava geralmente relacionado a alterações senis. Este estudo demonstrou a ocorrência de doenças coexistentes com o AVC e os aspectos ultrassonográficos destas condições em cães de raças pequenas.


Asunto(s)
Animales , Perros , Accidente Cerebrovascular/veterinaria , Neurología , Signos y Síntomas , Perros/anomalías , Técnicas de Diagnóstico Neurológico/veterinaria , Ultrasonografía Doppler
14.
Acta Physiol (Oxf) ; 206(3): 195-207, 2012 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-22574750

RESUMEN

AIM: We analysed cortical muscle representation areas during single muscle activation and during the co-activation of several upper arm muscles in the patients with writer's cramp to determine the possible occurrence of abnormal dynamic somatotopic changes in M1, in addition to the static map abnormalities already described in this form of dystonia. METHODS: Using transcranial magnetic stimulation, we assessed cortical representations of medial deltoid, extensor carpi radialis and the first dorsal interosseus muscles in eight patients with writer's cramp and in eight healthy control subjects. Cortical maps were obtained during distal muscles' activation either in isolation or in conjunction with voluntary medial deltoid co-activation. RESULTS: This study showed a difference in the organization of cortical representations of these muscles between the patients with dystonia and control subjects. The first dorsal interosseus and the extensor carpi radialis cortical representation areas were larger in the dystonic group. The cortical representations became larger when the medial deltoid was simultaneously co-activated, and this effect was not observed in the control group. In the dystonic group, the three cortical muscle representations largely overlapped and their centres of gravity were closer. CONCLUSION: Patients with dystonia showed not only a different spatial organization of muscle cortical representation areas, but also abnormal acute somatotopic changes during proximal muscle co-activation. Task-specific motor impairment in writer's cramp may result not only from lack of cortical inhibition and the well-known anomalous cortical organization observed in these patients, but also from abnormal patterns of proximo-distal functional muscle coupling.


Asunto(s)
Corteza Cerebral/fisiopatología , Trastornos Distónicos/fisiopatología , Músculo Esquelético/fisiopatología , Estimulación Magnética Transcraneal , Extremidad Superior/fisiopatología , Adulto , Anciano , Mapeo Encefálico , Estudios de Casos y Controles , Distonía/fisiopatología , Electromiografía , Femenino , Humanos , Masculino , Persona de Mediana Edad , Contracción Muscular/fisiología , Músculo Esquelético/inervación , Extremidad Superior/inervación
15.
Cytokine ; 56(2): 312-7, 2011 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-21802960

RESUMEN

Sickle cell anemia (SCA) is a disorder characterized by a heterogeneous clinical outcome. In the present study, we investigated the associations between Tumor Necrosis Factor-alpha (TNF-alpha) -308G>A and Interleukin 8 (IL-8) -251A>T gene polymorphisms, medical history and classical biomarkers in children with steady-state SCA. In total, 210 SCA patients aged 2-21 years and 200 healthy controls were studied. Gene polymorphisms, betaS-globin haplotypes and a 3.7-kb deletion in alpha2-thalassemia (α2-thal3.7 kb) were investigated by PCR/RFLP analysis, and cytokine levels were determined by ELISA. Splenomegaly (p=.032) was more prevalent among children younger than 5 years of age. The A allele of the TNF-alpha -308G>A gene polymorphism and the presence of α2-thal3.7 kb were associated with an increase risk of splenic sequestration events (p=.001; p=.046), while the T allele of the IL-8 -251A>T gene polymorphism was considered to be a protective factor for splenomegaly events (p=.032). Moreover, the A allele of the TNF-alpha -308G>A gene polymorphism was associated with high TNF-alpha levels (p=.021), and the hemoglobin F and hemoglobin S haplotypes were correlated with serum levels of IL-8. The logistic regression analysis showed significant effects of the TNF-alpha and IL-8 gene polymorphisms, beta(S)-globin gene haplotypes and α2-thal3.7 kb on the occurrence of splenic sequestration events. Our study emphasizes that the identification of new genetic and immunological biomarkers and their associations with classical markers is an important strategy to elucidate the underlying causes of different SCA phenotypes and their effects on patient outcome.


Asunto(s)
Anemia de Células Falciformes/sangre , Biomarcadores/sangre , Interleucina-8/sangre , Anamnesis , Polimorfismo Genético , Factor de Necrosis Tumoral alfa/sangre , Adolescente , Adulto , Alelos , Anemia de Células Falciformes/genética , Estudios de Casos y Controles , Niño , Preescolar , Estudios Transversales , Ensayo de Inmunoadsorción Enzimática , Haplotipos , Humanos , Interleucina-8/genética , Reacción en Cadena de la Polimerasa , Polimorfismo de Longitud del Fragmento de Restricción , Factor de Necrosis Tumoral alfa/genética
16.
Acta Physiol (Oxf) ; 203(2): 321-30, 2011 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-21624096

RESUMEN

AIM: The aim of this work was to analyse how writer's cramp patients coordinate each element of the proximal to distal upper arm muscle chain during voluntary movement. METHODS: Using transcranial magnetic stimulation, we have assessed motor cortex excitability properties in patients by recording motor-evoked potentials and silent periods in both the extensor carpi radialis (ECR) and the first dorsal interosseus muscles (FDI), activated either in isolation, or in conjunction with voluntary medial deltoid (MD) co-activation during performance of precise tasks. Ten dystonic patients and ten healthy controls were tested. RESULTS: In both test groups, the ECR muscle displayed a similar active motor threshold, but the excitability curves reached higher plateau values, when the proximal MD muscle was co-activated. In the dystonic group, the FDI muscle excitability curves reached higher plateau values when the MD was co-activated, whereas co-activation had no effect on the control group. In the control group, silent periods, in both the ECR and the FDI were longer when the MD was co-activated. This effect was not observed in the dystonic group. CONCLUSION: In the dystonic group, facilitation of the FDI was observed during a task involving proximo-distal coordination. No differences in silent periods were observed when the muscle was activated alone. Our results suggest that such abnormal facilitation is not only an impairment of the central inhibitory mechanisms reported for dystonic patients, but, in addition, represents true abnormality in cortical muscle activation strategies.


Asunto(s)
Trastornos Distónicos/fisiopatología , Corteza Motora/fisiología , Músculo Esquelético/fisiología , Desempeño Psicomotor/fisiología , Adulto , Anciano , Electromiografía , Potenciales Evocados Motores/fisiología , Femenino , Humanos , Masculino , Persona de Mediana Edad , Movimiento/fisiología
17.
J Oral Rehabil ; 38(9): 691-6, 2011 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-21449909

RESUMEN

The purpose of this study was to evaluate the influence of height of healing caps and the use of soft liner materials on the stress distribution in peri-implant bone during masticatory function in conventional complete dentures during the healing period by using finite element analysis. Three-dimensional models of a severely resorbed mandible with two recently placed implants in the anterior region were created and divided into the following situations: (i) submerged implants, (ii) healing cap at gingival level and (iii) 1·5-mm supragingival. All these situations were also analysed for a conventional complete denture and a denture relined with a 3-mm-thick layer of soft liner material. The models were exported to mechanical simulation software that presented two simulations, one with load in the inferior right canine (35 N) and the other in the inferior right first molar (50 N). Data were evaluated using Maximum Principal Stress provided by the software. All models showed a stress concentration in the cortical bone corresponding to the cervical part of the implant. The simulations with non-submerged implants showed higher values of stress concentration than those that were submerged. Likewise, soft liner materials presented better results than when the denture base was not relined. The height of the healing caps seems to have a direct influence on the stress distribution in the peri-implant bone during the healing period. Considering the values obtained in this study, the use of soft liners with submerged implants seems to be the most suitable method to use during the period of osseointegration.


Asunto(s)
Implantación Dental Endoósea/métodos , Dentadura Completa Inferior , Análisis de Elementos Finitos , Modelos Biológicos , Estrés Mecánico , Materiales Dentales , Humanos , Imagenología Tridimensional , Mandíbula/fisiología , Programas Informáticos
18.
Int J Surg ; 9(4): 306-9, 2011.
Artículo en Inglés | MEDLINE | ID: mdl-21276878

RESUMEN

AIM: To evaluate risk factors for lymphoedema development in the upper and lower limbs and to propose a model that predicts risk of lymphoedema after lymphadenectomy. PATIENTS: We studied 84 patients who had undergone radical lymphadenectomies for cutaneous melanoma from 1990 to 2008. METHODS: The patients included underwent an evaluation that consisted of measurement of limb volume using perimetry, application of the manually acquired perimetric data to the truncated-cone formula, and data from medical records. RESULTS: Using multivariate analysis, we obtained the following risk factors for the development of lymphoedema: reconstruction with graft (p = 0.013), Breslow depth >4mm (p = 0.029), ilioinguinal lymphadenectomy (p = 0.037) and wound infection (p = 0.036). We assigned points to each factor as dictated by the value of the regression coefficient, as follows: infection (1 point), ilioinguinal lymphadenectomy and Breslow >4mm (2 points each) and reconstruction with graft (3 points). The mathematical model for predicting lymphoedema risk in the limb ipsilateral to the lymphadenectomy was based on risk groups, defined by score: low risk = 0 point (for which we calculated an 8.3% chance of developing lymphoedema), intermediate risk = 1-2 points (26.8%), high risk = 3 points (52.9%) and very high risk = 4 or more points (88.9%). CONCLUSIONS: This study identified a melanoma thickness >4mm, graft reconstruction, ilioinguinal lymphadenectomy and infection as risk factors for lymphoedema. From these factors, we constructed a mathematical model that successfully predicted risk of post-lymphadenectomy lymphoedema. The combined presence of these risk factors increased the chance of developing lymphoedema.


Asunto(s)
Escisión del Ganglio Linfático , Linfedema/epidemiología , Melanoma/cirugía , Modelos Biológicos , Complicaciones Posoperatorias/epidemiología , Medición de Riesgo/métodos , Neoplasias Cutáneas/cirugía , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Axila , Niño , Preescolar , Extremidades , Femenino , Humanos , Conducto Inguinal , Masculino , Persona de Mediana Edad , Análisis Multivariante , Factores de Riesgo , Adulto Joven
19.
Braz. j. med. biol. res ; 43(8): 705-711, Aug. 2010. tab
Artículo en Inglés | LILACS | ID: lil-554960

RESUMEN

Fetal hemoglobin (HbF), encoded by the HBG2 and HBG1 genes, is the best-known genetic modulator of sickle cell anemia, varying dramatically in concentration in the blood of these patients. This variation is partially associated with polymorphisms located in the promoter region of the HBG2 and HBG1 genes. In order to explore known and unknown polymorphisms in these genes, the sequences of their promoter regions were screened in sickle cell anemia patients and correlated with both their HbF levels and their ƒÀS-globin haplotypes. Additionally, the sequences were compared with genes from 2 healthy groups, a reference one (N = 104) and an Afro-descendant one (N = 98), to identify polymorphisms linked to the ethnic background.The reference group was composed by healthy individuals from the general population. Four polymorphisms were identified in the promoter region of HBG2 and 8 in the promoter region of HBG1 among the studied groups. Four novel single nucleotide polymorphisms (SNP) located at positions -324, -317, -309 and -307 were identified in the reference group. A deletion located between -396 and -391 in the HBG2 promoter region and the SNP -271 C¨T in the HBG1 promoter region were associated with the Central African Republic ƒÀS-globin haplotype. In contrast, the -369 C¨G and 309 A¨G SNPs in the HBG2 promoter region were correlated to the Benin haplotype. The polymorphisms -396_-391 del HBG2, -369 SNP HBG2 and -271 SNP HBG1 correlated with HbF levels. Hence, we suggest an important role of HBG2 and HBG1 gene polymorphisms on the HbF synthesis.


Asunto(s)
Anciano , Niño , Femenino , Humanos , Masculino , Anemia de Células Falciformes/genética , Polimorfismo Genético/genética , Regiones Promotoras Genéticas/genética , gamma-Globinas/genética , Población Negra , Anemia de Células Falciformes/sangre , Brasil , Genotipo , Haplotipos
20.
Braz J Med Biol Res ; 43(8): 705-11, 2010 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-20602015

RESUMEN

Fetal hemoglobin (HbF), encoded by the HBG2 and HBG1 genes, is the best-known genetic modulator of sickle cell anemia, varying dramatically in concentration in the blood of these patients. This variation is partially associated with polymorphisms located in the promoter region of the HBG2 and HBG1 genes. In order to explore known and unknown polymorphisms in these genes, the sequences of their promoter regions were screened in sickle cell anemia patients and correlated with both their HbF levels and their betaS-globin haplotypes. Additionally, the sequences were compared with genes from 2 healthy groups, a reference one (N = 104) and an Afro-descendant one (N = 98), to identify polymorphisms linked to the ethnic background.The reference group was composed by healthy individuals from the general population. Four polymorphisms were identified in the promoter region of HBG2 and 8 in the promoter region of HBG1 among the studied groups. Four novel single nucleotide polymorphisms (SNP) located at positions -324, -317, -309 and -307 were identified in the reference group. A deletion located between -396 and -391 in the HBG2 promoter region and the SNP -271 C-->T in the HBG1 promoter region were associated with the Central African Republic betaS-globin haplotype. In contrast, the -369 C-->G and 309 A-->G SNPs in the HBG2 promoter region were correlated to the Benin haplotype. The polymorphisms -396_-391 del HBG2, -369 SNP HBG2 and -271 SNP HBG1 correlated with HbF levels. Hence, we suggest an important role of HBG2 and HBG1 gene polymorphisms on the HbF synthesis.


Asunto(s)
Anemia de Células Falciformes/genética , Polimorfismo Genético/genética , Regiones Promotoras Genéticas/genética , gamma-Globinas/genética , Anciano , Anemia de Células Falciformes/sangre , Población Negra , Brasil , Niño , Femenino , Genotipo , Haplotipos , Humanos , Masculino
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