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1.
Artigo em Inglês | MEDLINE | ID: mdl-38150601

RESUMO

BACKGROUND: To access the occurrence of bisphosphonate-associated osteonecrosis of the jaw (BAONJ) in individuals with rheumatoid arthritis (RA). MATERIAL AND METHODS: Observational studies that evaluated the occurrence of BAONJ in individuals with RA (BAONJ-RA) were considered for inclusion. Electronic searches were performed up to December 2022 in six databases and in the grey literature. The study selection, data extraction, and quality assessment of the included studies according to the Joanna Briggs Institute Critical Appraisal Checklists was performed. The certainty of evidence was evaluated using the GRADE approach. RESULTS: Five studies were included three cohort and two cross-sectional. The sample size of subjects with RA ranged from 16 to 3201. Together, the studies presented 36 cases of BAONJ-RA. Prevalence of BAONJ-RA ranged from 0.094% to 56.25%. The incidence ranged from 0.4% to 2.21. Women between the 6th and 8th decade of life were the most affected. Alendronate (n=5) and zoledronic acid (n=9), orally and intravenously, respectively, were the most used bisphosphonates. The duration of bisphosphonates use ranged from 2.7 to 8 years. The certainty of evidence was very low. CONCLUSIONS: The occurrence of BAONJ-RA is low. However, the certainty of the evidence was very low for this outcome.

2.
Acta Ortop Mex ; 37(5): 296-301, 2023.
Artigo em Espanhol | MEDLINE | ID: mdl-38382455

RESUMO

INTRODUCTION: dislocations of carpal bones without associated fractures are considered a rare injury, the most common mechanism of injury being axial loading with wrist in extension plus ulnar deviation. The literature reports a wide variety of complex carpal injuries, even so, it is possible to identify previously undescribed injuries. OBJECTIVE: to present an atypical case of a patient with an injury to the midcarpal stabilizing mechanism and the stabilizing mechanism of the proximal row of the wrist following trauma to the hand that required carpectomy as definitive surgical treatment. PRESENTATION OF CASE: a 48 year old male patient is presented who is admitted to our hospital unit after presenting injury to the left hand after being run over by a motor vehicle, with axial load mechanism, presenting deformity in the left thoracic extremity, fracture of the proximal metaphysis of the second phalanx of the third finger as well as dislocation of the proximal interphalangeal joint, with traumatic amputation of the second phalanx of the fourth finger plus extensor injury in zone V of the fifth finger with loss of skin coverage of the fourth and fifth finger, attending our hospital unit 24 hours after the injury. CONCLUSIONS: carpal bone dislocations are an orthopedic emergency, with 20% going unnoticed in trauma centers. Early closed reduction is the initial treatment to avoid severe complications, however, surgical treatment is the gold standard for fixation. Carpectomy is considered a mostly adequate sequelae management treatment, however it is well accepted for complex injuries to the wrist stabilization mechanisms, as it can be performed in a short surgical time and early rehabilitation can be initiated and functional ranges of motion can be achieved with low sequelae.


INTRODUCCIÓN: las luxaciones de los huesos del carpo sin presentar fracturas asociadas se considera una lesión infrecuente; el mecanismo de lesión más común es la carga axial con muñeca en extensión más desviación cubital. La literatura reporta una gran variedad de lesiones complejas del carpo; aun así, es posible identificar lesiones no descritas previamente. OBJETIVO: presentar caso atípico de paciente con lesión a nivel del mecanismo estabilizador medio-carpiana y estabilizador de la fila proximal de la muñeca posterior a traumatismo en mano que requirió carpectomía como tratamiento quirúrgico definitivo. PRESENTACIÓN DEL CASO: paciente masculino de 48 años de edad, quien ingresa a nuestra unidad hospitalaria tras sufrir lesión en mano izquierda posterior a ser arrollado por vehículo automotor, con mecanismo de carga axial, presentando en extremidad torácica izquierda deformidad hacia volar, fractura de metáfisis proximal de segunda falange del tercer dedo así como luxación de articulación interfalángica proximal, con amputación traumática de segunda falange del cuarto dedo más lesión extensora en zona V del quinto dedo con pérdida de cobertura cutánea del cuarto y quinto dedos. Acude a nuestra unidad hospitalaria 24 horas después de la lesión. CONCLUSIONES: las luxaciones en huesos del carpo es una urgencia ortopédica, pasando desapercibidas en 20% en centros de traumatología. La reducción cerrada temprana es el tratamiento inicial para evitar complicaciones severas; sin embargo, el tratamiento quirúrgico es el estándar de oro para la fijación de las mismas. La carpectomía se considera un tratamiento mayoritariamente para el manejo adecuado de secuelas; sin embargo, es bien aceptado para las lesiones complejas que se presentan en los mecanismos estabilizadores de la muñeca, dado a que se puede realizar en un tiempo quirúrgico y se puede iniciar una rehabilitación temprana, con lo que se pueden alcanzar rangos de movimientos funcionales y con bajo grado de secuelas.


Assuntos
Ossos do Carpo , Fraturas Ósseas , Luxações Articulares , Osso Escafoide , Masculino , Humanos , Pessoa de Meia-Idade , Osso Escafoide/cirurgia , Osso Escafoide/lesões , Ossos do Carpo/cirurgia , Articulação do Punho/cirurgia , Luxações Articulares/cirurgia , Fraturas Ósseas/complicações , Fraturas Ósseas/cirurgia
3.
Orphanet J Rare Dis ; 17(1): 98, 2022 03 03.
Artigo em Inglês | MEDLINE | ID: mdl-35241128

RESUMO

BACKGROUND: Hypophosphatasia (HPP) is a rare and underdiagnosed condition characterized by deficient bone and teeth mineralization. The aim of this study was first, to evaluate the diagnostic utility of employing alkaline phosphatase (ALP) threshold levels to identify adults with variants in ALPL among individuals with persistently low ALP levels and second, to determine the value of also including its substrates (serum pyridoxal-5'-phosphate-PLP-and urinary phosphoetanolamine-PEA) for this purpose in order to create a biochemical algorithm that could facilitate the diagnostic work-up of HPP. RESULTS: The study population comprised 77 subjects with persistent hypophosphatasaemia. They were divided into two groups according to the presence (+GT) or absence (-GT) of pathogenic ALPL variants: 40 +GT and 37 -GT. Diagnostic utility measures were calculated for different ALP thresholds and Receiver Operating Characteristic (ROC) curves were employed to determine PLP and PEA optimal cut-off levels to predict the presence of variants. The optimal threshold for ALP was 25 IU/L; for PLP, 180 nmol/L and for PEA, 30 µmol/g creatinine. Biochemical predictive models were assessed using binary logistic regression analysis and bootstrapping machine learning technique and results were then validated. For ALP < 25 UI/L (model 1), the area under curve (AUC) and the 95% confidence intervals (CI) was 0.68 (95% CI 0.63-0.72) and it improved to 0.87 (95% CI 0.8-0.9), when PEA or PLP threshold levels were added (models 2 and 3), reaching 0.94 (0.91-0.97) when both substrates were included (model 4). The internal validation showed that the addition of serum PLP threshold levels to the model just including ALP improved significantly sensitivity (S) and negative predictive value (NPV) - 100%, respectively- with an accuracy (AC) of 93% in comparison to the inclusion of urinary PEA (S: 71%; NPV 75% and AC: 79%) and similar diagnostic utility measures as those observed in model 3 were detected when both substrates were added. CONCLUSIONS: In this study, we propose a biochemical predictive model based on the threshold levels of the main biochemical markers of HPP (ALP < 25 IU/L and PLP > 180 nmol/L) that when combined, seem to be very useful to identify individuals with ALPL variants.


Assuntos
Fosfatase Alcalina , Hipofosfatasia , Aprendizado de Máquina , Adulto , Fosfatase Alcalina/genética , Osso e Ossos , Humanos , Hipofosfatasia/diagnóstico , Hipofosfatasia/epidemiologia , Hipofosfatasia/genética , Fosfato de Piridoxal
4.
Osteoporos Int ; 32(9): 1815-1824, 2021 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-33619648

RESUMO

Approximately half of individuals with hypophosphatasemia (low levels of serum alkaline phosphatase) have hypophosphatasia, a rare genetic disease in which patients may have stress fractures, bone and joint pain, or premature tooth loss. We developed a predictive model based on specific biomarkers of this disease to better diagnose this condition. INTRODUCTION: Hypophosphatasemia is a condition in which low levels of alkaline phosphatase (ALP) are detected in the serum. Some individuals presenting with this condition may have a rare genetic disease called hypophosphatasia (HPP), which involves mineralization of the bone and teeth. Lack of awareness of HPP and its nonspecific symptoms make this genetic disease difficult to diagnose. We developed a predictive model based on biomarkers of HPP such as ALP and pyridoxal 5'-phosphate (PLP), because clinical manifestations sometimes are not recognized as symptoms of HPP. METHODS: We assessed 325,000 ALP results between 2010 and 2015 to identify individuals suspected of having HPP. We performed univariate and multivariate analyses to characterize the relationship between hypophosphatasemia and HPP. Using several machine learning algorithms, we developed several models based on biomarkers and compared their performance to determine the best model. RESULTS: The final cohort included 45 patients who underwent a genetic test. Half (23 patients) showed a mutation of the ALPL gene that encodes the tissue-nonspecific ALP enzyme. ALP (odds ratio [OR] 0.61, 95% confidence interval [CI] 0.3-0.8, p = 0.01) and PLP (OR 1.06, 95% CI 1.01-1.15, p = 0.04) were the only variables significantly associated with the presence of HPP. Support vector machines and logistic regression were the machine learning algorithms that provided the best predictive models in terms of classification (area under the curve 0.936 and 0.844, respectively). CONCLUSIONS: Given the high probability of a misdiagnosis, its nonspecific symptoms, and a lack of awareness of serum ALP levels, it is difficult to make a clinical diagnosis of HPP. Predictive models based on biomarkers are necessary to achieve a proper diagnosis. Our proposed machine learning approaches achieved reasonable performance compared to traditional statistical methods used in biomedicine, increasing the likelihood of properly diagnosing such a rare disease as HPP.


Assuntos
Hipofosfatasia , Adulto , Osso e Ossos , Testes Genéticos , Humanos , Hipofosfatasia/diagnóstico , Hipofosfatasia/genética , Mutação , Fosfato de Piridoxal
5.
Waste Manag ; 120: 1-9, 2021 Feb 01.
Artigo em Inglês | MEDLINE | ID: mdl-33279821

RESUMO

The use of polymeric composite on transport applications as reinforcement material has been increased due to the low fuel consumption when replacing heavier materials. It is estimated that 170,000 tons of polymeric composites will be discarded by 2025, and recycling processing for carbon fibers recovery is required to save primary energy and reduce waste. Among the current techniques, pyrolysis processing has been most effective. On the other hand, innovation must maintain the structure for reuse since physical and mechanical properties are important for recycled materials. For this reason, the goal of the present study was the recycling of polymeric composite by pyrolysis. The recovered carbon fibers were analyzed in SEM and EDS to verify surface defects compared with virgin carbon fibers. The effect of temperature, time, and atmosphere were investigated. Results showed that at 550 °C for 1 h, it was possible to obtain free carbon fibers from the polymeric matrix. After the pyrolysis process in this condition, the fibers had no pores, material fracture, and carbonization. This paper contributes to the widening and systematizing knowledge on effectiveness and understanding polymeric composites recycling for carbon fiber recovery, maintaining its structure for reuse.


Assuntos
Resíduos Industriais , Pirólise , Fibra de Carbono , Polímeros , Reciclagem
6.
J Intellect Disabil Res ; 64(12): 956-969, 2020 12.
Artigo em Inglês | MEDLINE | ID: mdl-33034087

RESUMO

BACKGROUND: Ultrarare Marshall-Smith and Malan syndromes, caused by changes of the gene nuclear factor I X (NFIX), are characterised by intellectual disability (ID) and behavioural problems, although questions remain. Here, development and behaviour are studied and compared in a cross-sectional study, and results are presented with genetic findings. METHODS: Behavioural phenotypes are compared of eight individuals with Marshall-Smith syndrome (three male individuals) and seven with Malan syndrome (four male individuals). Long-term follow-up assessment of cognition and adaptive behaviour was possible in three individuals with Marshall-Smith syndrome. RESULTS: Marshall-Smith syndrome individuals have more severe ID, less adaptive behaviour, more impaired speech and less reciprocal interaction compared with individuals with Malan syndrome. Sensory processing difficulties occur in both syndromes. Follow-up measurement of cognition and adaptive behaviour in Marshall-Smith syndrome shows different individual learning curves over time. CONCLUSIONS: Results show significant between and within syndrome variability. Different NFIX variants underlie distinct clinical phenotypes leading to separate entities. Cognitive, adaptive and sensory impairments are common in both syndromes and increase the risk of challenging behaviour. This study highlights the value of considering behaviour within developmental and environmental context. To improve quality of life, adaptations to environment and treatment are suggested to create a better person-environment fit.


Assuntos
Anormalidades Múltiplas/epidemiologia , Anormalidades Múltiplas/fisiopatologia , Doenças do Desenvolvimento Ósseo/epidemiologia , Doenças do Desenvolvimento Ósseo/fisiopatologia , Anormalidades Craniofaciais/epidemiologia , Anormalidades Craniofaciais/fisiopatologia , Deficiência Intelectual/epidemiologia , Deficiência Intelectual/fisiopatologia , Transtornos Mentais/epidemiologia , Displasia Septo-Óptica/epidemiologia , Displasia Septo-Óptica/fisiopatologia , Distúrbios da Fala/epidemiologia , Adaptação Psicológica , Adolescente , Adulto , Criança , Pré-Escolar , Comorbidade , Estudos Transversais , Feminino , Seguimentos , Humanos , Masculino , Transtornos Mentais/fisiopatologia , Países Baixos/epidemiologia , Fenótipo , Distúrbios da Fala/fisiopatologia , Síndrome , Adulto Jovem
7.
Orphanet J Rare Dis ; 15(1): 51, 2020 02 17.
Artigo em Inglês | MEDLINE | ID: mdl-32066479

RESUMO

BACKGROUND: Hypophosphatasia (HPP) is an inborn error of metabolism characterized by low levels of serum alkaline phosphatase (ALP). Scarce evidence exists about features that should signal the potential association between hypophosphatasaemia and HPP in adults. The aim of this study is to estimate the prevalence of ALPL variants in subjects with persistent hypophosphatasaemia and determine the associated clinical and laboratory features. For this cross-sectional study, laboratory records of 386,353 subjects were screened by measurement of ALP activity. A total of 85 (0.18%) subjects with persistent hypophosphatasaemia (≥2 serum alkaline phosphatase-ALP-measurements ≤35 IU/L and none > 45 IU/L) were included (secondary causes previously discarded). ALPL genetic testing and a systematized questionnaire to retrieve demographic, clinical and laboratory data were performed. Descriptive analysis and logistic regression models were employed to identify the clinical and laboratory characteristics associated with ALPL variants. RESULTS: Forty subjects (47%) had a variant(s) in ALPL. With regard to clinical characteristics, the presence of an ALPL variant was significantly associated only with musculoskeletal pain (OR: 7.6; 95% IC: 1.9-30.9). Nevertheless, a trend to present more dental abnormalities (OR: 3.6; 95% IC: 0.9-13.4) was observed. Metatarsal stress fractures were also more frequent (4 vs 0; p < 0.05) in this group. Regarding laboratory features, median ALP levels were lower in subjects with ALPL variants (26 vs 29 IU/L; p < 0.005). Interestingly, the threshold of ALP levels < 25 IU/L showed a specificity, positive predictive value and positive likelihood ratio of 97.8, 94.4% and 19.8 to detect a positive ALPL test, respectively. CONCLUSIONS: In subjects with persistent hypophosphatasaemia -secondary causes excluded- one out of two presented ALPL variants. Musculoskeletal pain and ALP levels < 25 IU/L are associated with this variant(s). In this scenario, ALP levels < 25 IU/L seem to be very useful to identify individuals with the presence of an ALPL variant.


Assuntos
Fosfatase Alcalina , Hipofosfatasia , Adulto , Fosfatase Alcalina/genética , Estudos Transversais , Humanos , Hipofosfatasia/diagnóstico , Hipofosfatasia/genética
8.
Med Oral Patol Oral Cir Bucal ; 25(1): e106-e116, 2020 Jan 01.
Artigo em Inglês | MEDLINE | ID: mdl-31880283

RESUMO

BACKGROUND: Actinic cheilitis (AC) is a potentially malignant disorder of the lip, characterized by epithelial and connective tissue alterations caused by chronic exposure to ultraviolet radiation. In the past decades, diverse studies have been conducted in lip carcinogenesis and many biomarkers have been identified in lip lesions, yet there is no scientific evidence that determines its usefulness in the clinical setting or in histopathological routine. Therefore, we conducted the first systematic review in this field to summarize the results of published studies on immunohistochemical biomarkers in lip carcinogenesis, to evaluate if there is a marker than can distinguish the different histological grades of AC. MATERIAL AND METHODS: Retrospective studies that investigated immunohistochemical biomarkers in AC defined on standardised histological assessment were gathered from five databases and evaluated. Each study was qualitatively evaluated using the Critical Appraisal Tools from SUMARI. RESULTS: The proliferation marker Ki-67 was the most studied biomarker and we observed, through meta-analysis, that it was differently expressed between AC and lip cancer, but not in AC subgroups. Most articles had a high risk of bias. CONCLUSIONS: In summary, the literature lacks quality follow up studies in actinic cheilitis. Multi-centre cohort studies, with patients stratified by treatment type and the use of image analysis software, could be the solution to further address the issues of investigating potentially malignant lesions and help change clinical practice, in terms of individualizing patients' treatment and prognosis prediction.


Assuntos
Queilite , Neoplasias Labiais , Biomarcadores , Humanos , Estudos Retrospectivos , Raios Ultravioleta
9.
Arq. bras. med. vet. zootec. (Online) ; 71(1): 160-166, jan.-fev. 2019. tab, graf
Artigo em Inglês | LILACS, VETINDEX | ID: biblio-989358

RESUMO

Brucellosis is an infectious disease caused by bacteria of the genus Brucella spp. with diagnosis based on use of serological techniques. The present study aimed to develop and standardize a western blotting (WB) test for detection of antibodies against B. abortus. Samples from two groups of cattle were analyzed: group I: 60 serum samples from true positive and true negative vaccinated animals (30 positive samples from infected animals according to rose bengal test (RBT), 2-mercaptoethanol, serum agglutination test (SAT) and complement fixation test (CFT) and 30 RBT negatives samples); group II: 383 field samples (90 positive and 293 CFT negative sera). The most reactive band in the western blotting, which properly identified and separated infected from non - infected had a molecular weight of ≤ 20kDa. The sensitivity, specificity and accuracy of the WB compared to RBT was 93%, 99%, 98%, respectively and k= 0.938. When compared to CFT, the sensitivity, specificity and accuracy of the WB was 97%, 98% and 97%, respectively and k= 0.929. The WB developed and standardized in the present study is a serological test with potential use as a confirmatory test for the diagnosis of bovine brucellosis.(AU)


A brucelose é uma doença infectocontagiosa, causada por bactérias do gênero Brucella spp., com diagnóstico baseado no emprego de técnicas sorológicas. Objetivou-se neste estudo desenvolver e padronizar um teste Western blotting (WB) para detecção de anticorpos contra B. abortus. Foram analisados dois grupos de amostras bovinas: grupo I, com 60 amostras de animais verdadeiros positivos e verdadeiros negativos vacinados (30 amostras positivas de animais infectados e positivos nos testes de antígeno acidificado tamponado (AAT), 2 - mercaptoetanol (2 - ME), soroaglutinação lenta em tubos (SAT) e fixação do complemento e de 30 amostras negativas no AAT); grupo II, com 383 amostras de campo, sendo 90 soropositivas e 293 soronegativas no TFC. O resultado da análise do WB revelou peso molecular ≤20kDa como sendo a área mais reativa e característica para identificação e separação dos animais infectados dos não infectados. A sensibilidade, a especificidade e a acurácia do WB, quando este foi comparado com o AAT, foram, respectivamente, 93%, 99% e 98%, e k= 0,938. Quando comparadas com a TFC, a sensibilidade, a especificidade e a acurácia foram 97%, 98% e 97%, respectivamente, e k= 0,929. O WB padronizado neste estudo mostrou-se um teste sorológico com potencial uso como teste confirmatório no diagnóstico da brucelose bovina.(AU)


Assuntos
Animais , Testes Sorológicos/métodos , Western Blotting/métodos , Western Blotting/veterinária , Brucelose/diagnóstico
10.
Osteoporos Int ; 29(9): 2147-2150, 2018 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-29947871

RESUMO

The clinical spectrum of hypophosphatasia (HPP) is broad and variable within families. Along severe infantile forms, adult forms with mild manifestations may be incidentally discovered by the presence of low alkaline phosphatase (ALP) activity in serum. However, it is still unclear whether individuals with persistently low levels of ALP, in the absence of overt manifestations of HPP, have subclinical abnormalities of bone remodeling or bone mass. The aim of this study was to obtain a better understanding of the skeletal phenotype of adults with low ALP by analyzing bone mineral density (BMD), bone microarchitecture (trabecular bone score, TBS), and bone turnover markers (P1NP and ß-crosslaps). We studied 42 individuals with persistently low serum ALP. They showed lower levels of P1NP (31.4 ± 13.7 versus 48.9 ± 24.4 ng/ml; p = 0.0002) and ß-crosslaps (0.21 ± 0.17 versus 0.34 ± 0.22 ng/ml, p = 0.0015) than individuals in the control group. There were no significant differences in BMD, bone mineral content, or TBS. These data suggest that individuals with hypophosphatasemia have an overall reduction of bone turnover, even in the absence of overt manifestations of HPP or low BMD. We evaluated bone mineral density (BMD), bone microarchitecture, and bone turnover markers in patients with low serum levels of alkaline phosphatase. Our results show that these patients have low bone remodeling even in the absence of BMD abnormalities, thus supporting the recommendation of avoiding antiresorptives such as bisphosphonates in these subjects.


Assuntos
Fosfatase Alcalina/deficiência , Remodelação Óssea/fisiologia , Hipofosfatasia/fisiopatologia , Adulto , Idoso , Fosfatase Alcalina/sangue , Biomarcadores/sangue , Densidade Óssea/fisiologia , Osso Esponjoso/fisiopatologia , Estudos de Casos e Controles , Colágeno/sangue , Feminino , Humanos , Hipofosfatasia/sangue , Hipofosfatasia/enzimologia , Masculino , Pessoa de Meia-Idade , Fragmentos de Peptídeos/sangue , Pró-Colágeno/sangue
11.
Med Oral Patol Oral Cir Bucal ; 23(2): e120-e125, 2018 Mar 01.
Artigo em Inglês | MEDLINE | ID: mdl-29476674

RESUMO

BACKGROUND: Ameloblastoma (AMB), odontogenic keratocyst (OKC) and adenomatoid odontogenic tumor (AOT) are epithelial odontogenic lesions with diverse biologic profiles. Defects in regulation of apoptosis and cell cycle may be involved in the development and progression of those lesions, therefore we aimed to investigate the expression of Bcl-2, Bax and p53 to better understand the possible role of these proteins in AMBs, OKCs and AOTs. MATERIAL AND METHODS: The studied sample consisted of 20 AMBs, 20 OKCs and 20 AOTs. Immunohistochemistry technique was performed for the antibodies p53, Bcl-2 and Bax. Immunoreactivity was observed in the epithelial component and positive cells were counted in five fields (100x magnification). Statistical analysis was performed with Kruskal-Wallis and Spearman tests (p <0.05). RESULTS: All lesions exhibited staining for the three studied proteins. There was no statistically significant associations between the expression of proteins and the lesions, however we identified a positive correlation between the expression of p53 and Bcl-2 (r = 0.200) and a negative correlation between p53 and Bax expressions (r = -0.100). In addition, p53 and Bax were similarly expressed between AMBs and OKCs. Bcl-2 was similarly expressed in AMBs and AOTs. CONCLUSIONS: Apoptosis regulatory proteins, as well as cell cycle proteins, are differently expressed in epithelial odontogenic lesions and their expression is possibly related to the biological behavior of AMB, OKC and AOT.


Assuntos
Ameloblastoma/metabolismo , Ameloblastoma/patologia , Apoptose , Ciclo Celular , Neoplasias Maxilomandibulares/metabolismo , Neoplasias Maxilomandibulares/patologia , Cistos Odontogênicos/metabolismo , Cistos Odontogênicos/patologia , Proteína Supressora de Tumor p53/biossíntese , Proteína X Associada a bcl-2/biossíntese , Proteína bcl-X/biossíntese , Humanos , Imuno-Histoquímica , Odontogênese
12.
Clin Genet ; 93(4): 762-775, 2018 04.
Artigo em Inglês | MEDLINE | ID: mdl-28892148

RESUMO

Smith-Kingsmore syndrome (SKS) OMIM #616638, also known as MINDS syndrome (ORPHA 457485), is a rare autosomal dominant disorder reported so far in 23 patients. SKS is characterized by intellectual disability, macrocephaly/hemi/megalencephaly, and seizures. It is also associated with a pattern of facial dysmorphology and other non-neurological features. Germline or mosaic mutations of the mTOR gene have been detected in all patients. The mTOR gene is a key regulator of cell growth, cell proliferation, protein synthesis and synaptic plasticity, and the mTOR pathway (PI3K-AKT-mTOR) is highly regulated and critical for cell survival and apoptosis. Mutations in different genes in this pathway result in known rare diseases implicated in hemi/megalencephaly with epilepsy, as the tuberous sclerosis complex caused by mutations in TSC1 and TSC2, or the PIK3CA-related overgrowth spectrum (PROS). We here present 4 new cases of SKS, review all clinical and molecular aspects of this disorder, as well as some characteristics of the patients with only brain mTOR somatic mutations.


Assuntos
Encéfalo/metabolismo , Megalencefalia/genética , Síndrome de Smith-Lemli-Opitz/genética , Serina-Treonina Quinases TOR/genética , Adolescente , Encéfalo/fisiopatologia , Proliferação de Células/genética , Criança , Classe I de Fosfatidilinositol 3-Quinases/genética , Deficiências do Desenvolvimento/genética , Deficiências do Desenvolvimento/fisiopatologia , Feminino , Humanos , Deficiência Intelectual/genética , Deficiência Intelectual/fisiopatologia , Masculino , Megalencefalia/diagnóstico por imagem , Megalencefalia/fisiopatologia , Mutação , Plasticidade Neuronal/genética , Proteínas Proto-Oncogênicas c-akt/genética , Síndrome de Smith-Lemli-Opitz/diagnóstico por imagem , Síndrome de Smith-Lemli-Opitz/fisiopatologia , Proteína 1 do Complexo Esclerose Tuberosa/genética , Proteína 2 do Complexo Esclerose Tuberosa/genética
13.
Med Oral Patol Oral Cir Bucal ; 21(3): e271-5, 2016 May 01.
Artigo em Inglês | MEDLINE | ID: mdl-26827068

RESUMO

BACKGROUND: Odontogenic tumors (OTs) are considered important among oral lesions because of their clinicopathological heterogeneity, and variable biological behavior. This paper aims to determine the frequency and distribution of OTs, over a period of 10 years, at a public university in Northeastern Brazil and compare this data with previous reports. MATERIAL AND METHODS: We reviewed all cases of OTs from oral pathology laboratory of University of Pernambuco (UPE), from 2004 to 2014. Diagnoses were re-evaluated and the tumors were classified according to the latest (2005) World Health Organization Classification of Tumors. In addition, we searched in the English-language literature retrospective studies on OTs that used the same classification. RESULTS: Within the total of 6028 oral biopsies, 289 (4.79%) were OTs. Of these, 287 (99.3%) were benign and 2 (0.7%) were malignant. The overall incidence was 31.1/million. Mandible-maxilla ratio was 2.5:1 and mean age 35 years. Keratocystic odontogenic tumor (KCOT) (34.6%) was the most frequent lesion, followed by ameloblastoma (AMB) (32.9%) and odontoma (ODO) (11.4%). CONCLUSIONS: OTs are uncommon neoplasms with geographic variation. Our clinicopathological features are according to literature. In the present study, KCOT was the most frequent one, showing that the new classification of OTs altered the distribution of these lesions and possibly made KCOT the most common OT observed in diagnostic services worldwide.


Assuntos
Ameloblastoma/patologia , Tumores Odontogênicos/patologia , Odontoma/patologia , Adulto , Ameloblastoma/diagnóstico , Brasil , Feminino , Humanos , Masculino , Tumores Odontogênicos/diagnóstico , Odontoma/diagnóstico , Estudos Retrospectivos
14.
Clin Genet ; 88(6): 579-83, 2015 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-25512148

RESUMO

Pulmonary arterial hypertension (PAH) is a pathological condition characterized by a persistent and progressive elevation of pulmonary vascular resistance with devastating consequences if untreated. In the past recent years, several genes have been related to PAH, however, the molecular defect remains unknown in a significant proportion of patients with familial PAH (∼20%). During the past few years, we have observed that PAH shows a particular behavior in Iberian Gypsies, with more aggressive course and frequently affecting multiple members of the same family. We studied five Gypsy families in whom at least one individual from each family developed a severe form of PAH and in whom no mutation had been identified in the common genes. We applied SNP-array-based homozygosity mapping in three families and obtained, among others, one of which included the gene EIF2AK4, recently reported in patients with PAH from group-1' pulmonary veno-occlusive disease (PVOD) and pulmonary capillary hemangiomatosis (PCH). Subsequently, we sequenced EIF2AK4 and found a homozygous mutation in all five families: c.3344C>T(p.P1115L). The majority of our patients required early lung transplantation. Hence, this mutation appeared with a more severe phenotype than previously reported for other EIF2AK4 mutations. The finding of this novel mutation is important for genetic counseling and calculation of population recurrence risks.


Assuntos
Hipertensão Pulmonar Primária Familiar/genética , Predisposição Genética para Doença/genética , Mutação , Proteínas Serina-Treonina Quinases/genética , Roma (Grupo Étnico)/genética , Adolescente , Adulto , Sequência de Bases , Hipertensão Pulmonar Primária Familiar/etnologia , Feminino , Efeito Fundador , Predisposição Genética para Doença/etnologia , Homozigoto , Humanos , Masculino , Linhagem , Portugal , Análise de Sequência de DNA , Espanha
15.
Acta Ortop Mex ; 28(6): 344-51, 2014.
Artigo em Espanhol | MEDLINE | ID: mdl-26016286

RESUMO

This paper describes a series of cases with severe hand injury that required antebrachial flaps as part of treatment, and their functional results. The clinical records of patients with a diagnosis of traumatic hand injury and major skin cover losses, reconstructed with a reverse-flow forearm flap, were reviewed. The following variables were studied: type of flap, sex, age, mechanism of injury, receiver site, size, adjacent injuries and their treatment, vascular integrity test prior to flap placement, operative time, follow-up and complications. A total of 25 patients were included, with 25 reverse-flow fasciocutaneous forearm flaps; in 15 of them the blood supply was based on the radial artery and in 10 in the posterior interosseous artery. The Allen test was used in 13 cases of radial flaps (RF) to check the integrity of the superficial palmar arch; Doppler ultrasound was used in the remaining two cases. Sixteen cases (64%) underwent bone and tendon reconstruction, four cases (16%) isolated tenorrhaphy of one or several tendons, two cases (8%) isolated osteosynthesis, one case due to electrical burn underwent Littler opponensplasty with a radial flap in the anterior aspect of the wrist (4%), and in two cases (8%) an isolated flap was used. In one 67 year-old patient (4%) there was congestion and total loss of the posterior interosseous flap. The recommended indications for this type of flap are: coverage of the distal forearm, hand dorsum and fingers, first interdigital space, palmar region of the wrist and hand. Only two cases required coverage of the palmar region of the wrist and hand, and they were both treated with radial flaps, probably for reasons of anatomical convenience.


Assuntos
Traumatismos da Mão/cirurgia , Retalhos Cirúrgicos , Adolescente , Adulto , Idoso , Criança , Pré-Escolar , Fáscia/transplante , Feminino , Antebraço , Humanos , Escala de Gravidade do Ferimento , Masculino , Pessoa de Meia-Idade , Procedimentos de Cirurgia Plástica/métodos , Transplante de Pele , Adulto Jovem
17.
Braz J Biol ; 72(2): 371-8, 2012 May.
Artigo em Inglês | MEDLINE | ID: mdl-22735146

RESUMO

This aim of this study was to evaluate the lignification in young stems of the Lophanthera lactescens Ducke plant grown in vitro L. lactescens (Malpighiaceae), a species endemic in the Brazilian Amazon that possesses both medicinal properties and could be used in the forest product industry. Plants grown in vitro condition in MS medium were analyzed using Infrared (IR) microspectroscopy in a diffuse reflectance mode, fluorescence microscopy. Moreover, histochemical tests such as the Wiesner and Maüle test were run to monitor the process of lignification in cell walls. The spectra of IR microscopy recorded using cross section tissue are representative of guaiacyl/syringyl lignin, based on the 1336 and 1246 cm-1 signal. Individuals presenting stem sprains, resulting from the marked development, produced gelatinous fibers with a clear cellulose layer. Initially, fluorescence microscopy demonstrated lignin deposition in the cell corner region having progressive deposition in the secondary wall of tracheary elements of the stem.


Assuntos
Lignina/fisiologia , Malpighiaceae/crescimento & desenvolvimento , Malpighiaceae/anatomia & histologia , Malpighiaceae/citologia , Microscopia de Fluorescência , Espectrofotometria Infravermelho
18.
Braz. j. biol ; 72(2): 371-378, May 2012. ilus
Artigo em Inglês | LILACS | ID: lil-639447

RESUMO

This aim of this study was to evaluate the lignification in young stems of the Lophanthera lactescens Ducke plant grown in vitro L. lactescens (Malpighiaceae), a species endemic in the Brazilian Amazon that possesses both medicinal properties and could be used in the forest product industry. Plants grown in vitro condition in MS medium were analyzed using Infrared (IR) microspectroscopy in a diffuse reflectance mode, fluorescence microscopy. Moreover, histochemical tests such as the Wiesner and Maüle test were run to monitor the process of lignification in cell walls. The spectra of IR microscopy recorded using cross section tissue are representative of guaiacyl/syringyl lignin, based on the 1336 and 1246 cm-1 signal. Individuals presenting stem sprains, resulting from the marked development, produced gelatinous fibers with a clear cellulose layer. Initially, fluorescence microscopy demonstrated lignin deposition in the cell corner region having progressive deposition in the secondary wall of tracheary elements of the stem.


Esta pesquisa teve como objetivo avaliar a lignificação em caules jovens de plantas de Lophanthera lactescens Ducke crescidas in vitro. L. lactescens (Malpighiaceae) é uma espécie endêmica da Amazônia Brasileira que, além de propriedades medicinais, apresenta potencial para a indústria de produtos florestais. As plantas foram crescidas in vitro, usando-se meio nutritivo MS. As análises foram realizadas por microespectrometria no infravermelho, no modo reflectância difusa. Microscopia com fluorescência e testes histoquímicos de Wiesner e Maüle foram realizados para o acompanhamento do processo de lignificação. Os espectros registrados a partir da microscopia no infravermelho mostraram sinais em 1336 e 1246 cm-1, característicos de ligninas siringílica e guaiacílica. Indivíduos que apresentaram entorses no caule, em decorrência do acentuado desenvolvimento, produziram fibras gelatinosas, com a camada de celulose evidente. A microscopia com fluorescência evidenciou deposição de lignina inicialmente nos ângulos das células, com depósito progressivo ocorrendo na parede secundária dos elementos traqueais do caule.


Assuntos
Lignina/fisiologia , Malpighiaceae/crescimento & desenvolvimento , Microscopia de Fluorescência , Malpighiaceae/anatomia & histologia , Malpighiaceae/citologia , Espectrofotometria Infravermelho
19.
Artigo em Inglês | MEDLINE | ID: mdl-23366720

RESUMO

This study proposes a novel method to assist the detection of the components that build up the Cyclic Alternating Pattern (CAP). CAP is a sleep phenomenon formed by consecutive sequences of activations (A1, A2, A3) and non-activations during nonREM sleep. The main importance of CAP evaluation is the possibility of defining the sleep process more accurately. Ten recordings from healthy and good sleepers were included in this study. The method is based on inferential statistics to define the initial and ending points of the CAP components based only on an initialization point given by the expert. The results show concordance up to 95% for A1, 85% for A2 and 60% for A3, together with an overestimation of 1.5 s in A1, 1.3 s in A2 and 0 s in A3. The total CAP rate presents a total underestimation of 7 min. Those results suggest that the method is able to accurately detect the initial and ending points of the activations, and may be helpful for the physicians by reducing the time dedicated to the manual inspection task.


Assuntos
Polissonografia/métodos , Sono/fisiologia , Adulto , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Fases do Sono/fisiologia
20.
Acta Ortop Mex ; 24(6): 404-8, 2010.
Artigo em Espanhol | MEDLINE | ID: mdl-21400764

RESUMO

INTRODUCTION: Waddell's triad represents an emergency for pediatric patients due to the high incidence of injuries associated with the femur fracture. OBJECTIVE: To clinically assess, upon presentation, the femur fracture associated with the head trauma, chest and/or abdominal trauma in the pediatric patients and its course during the hospital stay. MATERIAL AND METHODS: Prospective, observational study analyzing the cases that had clinical, imaging and picture records to assess the presence of associated injuries as well as their course during the hospital stay. RESULTS: A total of 21 patients were included; 13 boys and 8 girls, ages 3-14 years; weight upon admission was 12-30 kg, the Pediatric Trauma Score range was 1-9 points; 9.6% sustained open fractures; 15 cases had femoral fracture associated with musculoskeletal injuries; the most frequent finding related with head trauma was brain edema. Sixty-two percent of those with thoracic or abdominal trauma warranted a surgical procedure; 18 patients required mechanical ventilation; several methods were used to treat the femur fractures. CONCLUSIONS: The polytraumatized patients need multidisciplinary care. There is a high percentage of musculoskeletal and non-orthopedic associated injuries in Waddell's triad. The Pediatric Trauma Score is a good indicator of the severity of the patient's condition.


Assuntos
Traumatismos Abdominais/terapia , Traumatismos Craniocerebrais/terapia , Fêmur/lesões , Traumatismo Múltiplo/terapia , Traumatismos Torácicos/terapia , Adolescente , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Estudos Prospectivos
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