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1.
Med Oral Patol Oral Cir Bucal ; 29(3): e390-e397, 2024 May 01.
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.


Assuntos
Artrite Reumatoide , Osteonecrose da Arcada Osseodentária Associada a Difosfonatos , Artrite Reumatoide/tratamento farmacológico , Artrite Reumatoide/complicações , Humanos , Osteonecrose da Arcada Osseodentária Associada a Difosfonatos/epidemiologia , Osteonecrose da Arcada Osseodentária Associada a Difosfonatos/etiologia , Feminino , Conservadores da Densidade Óssea/efeitos adversos , Difosfonatos/efeitos adversos , Masculino , Incidência , Estudos Observacionais como Assunto , Prevalência
2.
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
3.
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
4.
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
5.
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
6.
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
7.
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
8.
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
9.
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
10.
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
11.
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
12.
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
13.
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
15.
J Econ Entomol ; 102(4): 1431-9, 2009 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-19736753

RESUMO

The mealybug Maconellicoccus hirsutus (Green) (Hemiptera: Pseudococcidae), attacks ornamental and fruit crops in the Mariana Islands. Insecticides cannot penetrate the heavy layers of wax that protect the insect's body. We surveyed the mealybug's locally recruited natural enemies and their effects on its population on Guam, Rota, Saipan, and Tinian to assess the need for introduction of exotic natural enemies. We monitored population densities of M. hirsutus, those of its natural enemies, and parasitism rates for 3 yr, 2005-2007. Our surveys revealed the presence of two parasitoids, Anagyrus kamali Moursi (Hymenoptera: Encyrtidae) and Allotropa sp. near mecrida (Walker) (Hymenoptera: Platygastridae), fortuitously introduced to the Mariana Islands with M. hirsutus. The predator Cryptolaemus montrouzieri Mulsant (Coleoptera: Coccinellidae) also was often found feeding on M. hirsutus. Population density of M. hirsutus was below the economic threshold at all locations. Rainfall seemed to affect mean numbers of M. hirsutus and mean numbers of eggs at some locations. On all four islands, the two parasitoids, complemented by the predator, were effectively controlling the M. hirsutus population. No evidence of hyperparasitism was recorded. Currently, economic damage by M. hirsutus is not a concern in the Mariana Islands, and additional parasitoids need not be introduced to control M. hirsutus.


Assuntos
Hemípteros/parasitologia , Controle Biológico de Vetores , Vespas/fisiologia , Animais , Micronésia , Densidade Demográfica , Chuva
16.
Waste Manag ; 28(8): 1417-22, 2008.
Artigo em Inglês | MEDLINE | ID: mdl-17855069

RESUMO

Nowadays the composting process has shown itself to be an alternative in the treatment of municipal solid wastes by composting plants. However, although more than 50% of the waste generated by the Brazilian population is composed of matter susceptible to organic composting, this process is, still today, insufficiently developed in Brazil, due to low compost quality and lack of investments in the sector. The objective of this work was to use physical analyses to evaluate the quality of the compost produced at 14 operative composting plants in the Sao Paulo State in Brazil. For this purpose, size distribution and total inert content tests were done. The results were analyzed by grouping the plants according to their productive processes: plants with a rotating drum, plants with shredders or mills, and plants without treatment after the sorting conveyor belt. Compost quality was analyzed considering the limits imposed by the Brazilian Legislation and the European standards for inert contents. The size distribution tests showed the influence of the machinery after the sorting conveyer on the granule sizes as well as the inert content, which contributes to the presence of materials that reduce the quality of the final product.


Assuntos
Eliminação de Resíduos/métodos , Solo , Gerenciamento de Resíduos/métodos , Brasil , Cidades , Conservação dos Recursos Naturais , Desenho de Equipamento , Arquitetura de Instituições de Saúde
17.
Waste Manag ; 25(1): 67-74, 2005.
Artigo em Inglês | MEDLINE | ID: mdl-15681180

RESUMO

The progress of the technology is directly related to the growth of production and consumption of electrical/electronics equipment, especially of personal computers. This type of equipment has a relatively short average lifetime, 2-3 years. The amount of defective or obsolete equipment has been increasing substantially; consequently its disposition and/or recycling should be studied. In this work, printed circuit boards, which are used in personal computers, were studied in order to recover the metals in the circuit boards through mechanical processing, such as crushing, screening, as well as magnetic and electrostatic separation. The results obtained demonstrate the feasibility of using these processes to separate metal fractions from polymers and ceramics, and that it is possible to obtain a fraction concentrated in metals containing more than 50% on average of copper, 24% of tin and 8% of lead.


Assuntos
Conservação dos Recursos Naturais , Eletrônica , Metais/isolamento & purificação , Microcomputadores , Gerenciamento de Resíduos/métodos , Cerâmica , Magnetismo , Polímeros , Eletricidade Estática
18.
Trans R Soc Trop Med Hyg ; 88(2): 232-6, 1994.
Artigo em Inglês | MEDLINE | ID: mdl-8036686

RESUMO

To determine the tolerance to diethylcarbamazine (DEC) treatment of patients with Bancroftian filariasis, 193 individuals (138 asymptomatic microfilaraemic, 30 amicrofilaraemic diseased patients and 25 asymptomatic amicrofilaraemic endemic residents) were enrolled in a prospective trial with different dose schedules, in a hospital and outpatient clinic setting in Brazil. Systemic adverse reactions, localized adverse reactions, and side effects, related to microfilariae, adult worms and the drug itself, were evaluated. Systemic reactions occurred irrespective of the DEC dose and schedule in about 40% of the microfilariae carriers, but not in amicrofilaraemic diseased patients or residents; they usually consisted of microscopic haematuria, followed by fever and malaise. Localized reactions were manifested by the appearance of inflammatory reactions, mainly in the scrotal area. Nodules containing degenerating adult worms developed mainly in the scrotal lymphatics of microfilaraemic patients, diseased amicrofilaraemic patients, and residents. Drowsiness, which increased with higher doses of DEC, was the most common side effect in both microfilaraemic and amicrofilaraemic individuals, followed by nausea and gastric upset. The results indicate that the occurrence of systemic and local adverse reactions was unrelated to either the dose of DEC or the pretreatment microfilarial density. The severity of systemic reactions was proportional to the microfilarial density. Side effects were dependent on the drug dosage irrespective of infection status.


Assuntos
Dietilcarbamazina/uso terapêutico , Filariose Linfática/tratamento farmacológico , Adolescente , Adulto , Animais , Dietilcarbamazina/efeitos adversos , Relação Dose-Resposta a Droga , Filariose Linfática/complicações , Seguimentos , Humanos , Masculino , Microfilárias , Estudos Prospectivos
19.
J Hazard Mater ; 112(1-2): 71-8, 2004 Aug 09.
Artigo em Inglês | MEDLINE | ID: mdl-15225932

RESUMO

Zinc, lead, and cadmium are minor elements that might be brought by wastes to the cement kilns. This work studies the incorporation ratio of ZnO, PbO, and CdO when they are added to the clinker raw material. The cement raw material used in this work was prepared by mixing pure compounds, this choice was made to avoid the effect of other elements and provide a better understanding of the behavior of these metals during the clinkering process. The samples contained additions of 0.05, 0.10, 0.30, 0.50, 0.80 and 1.00 wt.% of a specific oxide (ZnO, PbO, or CdO) to the clinker raw-meal. The chlorine influence in the ZnO incorporation ratio was also evaluated. A device to simulate the thermal cycle imposed on the charge during the clinker production was used to evaluate the incorporation ratio of these oxides as well as thermogravimetric tests. The products of the tests in the simulator device were submitted to X-ray fluorescence chemical analysis or energy disperse scanning (EDS) microprobe analysis. The results led to the conclusions that the evaporation of Zn in cements kilns is due to the chlorine content and the Pb and Cd incorporation ratio stands around 50 wt.%.


Assuntos
Compostos de Cádmio/química , Resíduos Industriais , Chumbo/química , Óxidos/química , Óxido de Zinco/química , Fenômenos Químicos , Físico-Química , Teste de Materiais/métodos , Termogravimetria
20.
J Hazard Mater ; 93(2): 221-32, 2002 Jul 22.
Artigo em Inglês | MEDLINE | ID: mdl-12117468

RESUMO

Co-incinerating wastes in cement rotary kilns may introduce elements not usually found in the raw material into the process or even increase the quantity of some minor elements. Chromium and nickel are present in some electroplating sludges. These wastes are hazardous and must be treated and disposed of in a controlled landfill. The objective of this work was to study the incorporation of chromium and nickel oxides when they were added to clinker raw meal. The clinker raw meal used in this study was prepared by mixing pure compounds in the ratio that made it possible to obtain the same phases of an industrial Portland clinker at the end of the heating process. Twelve samples were prepared by adding 0.05, 0.1, 0.3, 0.5, 0.8 and 1.0wt.% of Cr(2)O(3) and 0.05, 0.1, 0.3, 0.5, 0.8 and 1.0wt.% of NiO to the base charge. Also, four more samples were prepared with additions of 0.6% Cr(2)O(3) and 0.1% NaCl, 0.7% Cr(2)O(3) and 0.1% KCl, 0.8% NiO and 0.1% NaCl and 0.8% NiO and 0.1% KCl. In order to study the Cr and Ni incorporation, thermogravimetric (TG) tests were performed, as well as tests in an assembled experimental device. The products were characterized by X-ray fluorescence chemical analysis, microprobe analyses by energy disperse scanning (EDS) and leaching tests. The results showed that the chromium and nickel added were incorporated into the clinker, even when chlorides were present.


Assuntos
Compostos de Cromo/química , Níquel/química , Eliminação de Resíduos , Compostos de Cromo/análise , Monitoramento Ambiental , Incineração , Níquel/análise , Temperatura
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