Your browser doesn't support javascript.
loading
: 20 | 50 | 100
1 - 20 de 37
1.
ACS Omega ; 6(42): 28049-28062, 2021 Oct 26.
Article En | MEDLINE | ID: mdl-34723005

This paper demonstrates that femtosecond laser-irradiated Fe2O3 materials containing a mixture of α-Fe2O3 and ε-Fe2O3 phases showed significant improvement in their photoelectrochemical performance and magnetic and optical properties. The absence of Raman-active vibrational modes in the irradiated samples and the changes in charge carrier emission observed in the photocurrent density results indicate an increase in the density of defects and distortions in the crystalline lattice when compared to the nonirradiated ones. The magnetization measurements at room temperature for the nonirradiated samples revealed a weak ferromagnetic behavior, whereas the irradiated samples exhibited a strong one. The optical properties showed a reduction in the band gap energy and a higher conductivity for the irradiated materials, causing a higher current density. Due to the high performance observed, it can be applied in dye-sensitized solar cells and water splitting processes. Quantum mechanical calculations based on density functional theory are in accordance with the experimental results, contributing to the elucidation of the changes caused by femtosecond laser irradiation at the molecular level, evaluating structural, energetic, and vibrational frequency parameters. The surface simulations enable the construction of a diagram that elucidates the changes in nanoparticle morphologies.

2.
J Craniofac Surg ; 2021 Jul 14.
Article En | MEDLINE | ID: mdl-34261967

INTRODUCTION: Craniofacial microsomia (CFM) is caused by abnormalities in the development of the first and second pharyngeal arches. One-third to half of the patients with CFM also present with extra craniofacial (ECF) malformations. The knowledge of the visceral alteration related to CFM is vital for optimized care and a better prognosis. AIM: To describe the incidence of ECF malformations in patients with CFM and to infer if there was a correlation between CFM and ECF malformations. MATERIALS AND METHODS: The authors analyzed medical records of patients diagnosed with CFM from 1996 to 2006. The data collected included age, gender, category of craniofacial alteration, and the type of ECF malformation when present. The sample was inspected to find possible correlations between craniofacial abnormalities and ECF malformations. RESULTS: The sample included 102 patients, with a mean age of 7 years and a predominance of males (61.8%). Ear malformations (93.1%) followed by mandible (59.8%) and facial nerve (10.8%) abnormalities were the most common CFM. Among patients with CFM, 37.2% had ECF involvement, mainly in vertebrae (20%), heart (11%), and limbs (9.8%). Multivariate analysis revealed that the presence of ear malformations was related to a higher incidence of nonspecific visceral malformations (P = 0.034) and that mandible malformation was related to an increased incidence of vertebral malformations (P = 0.008). CONCLUSION: A significant percentage of patients with CFM presented associated ECF impairment. Ear and mandible involvement may be predictors of nonspecific visceral malformation and vertebral malformations, respectively.

3.
Inorg Chem ; 60(8): 5937-5954, 2021 Apr 19.
Article En | MEDLINE | ID: mdl-33769807

In this paper, we report the synthesis of silver selenite (Ag2SeO3) by different methods [sonochemistry, ultrasonic probe, coprecipitation, and microwave-assisted hydrothermal methods]. These microcrystals presented a structural long-range order as confirmed by X-ray diffraction (XRD) and Rietveld refinements and a structural short-range order as confirmed by Fourier transform infrared (FTIR) and Raman spectroscopies. X-ray photoelectron spectroscopy (XPS) provided information about the surface of the samples indicating that they were pure. The microcrystals presented different morphologies and sizes due to the synthesis method as observed by field emission scanning electron microscopy (FE-SEM). The optical properties of these microcrystals were evaluated by ultraviolet-visible (UV-vis) spectroscopy and photoluminescence (PL) measurements. Thermal analysis confirmed the temperature stability of the as-synthetized samples. Further trapping experiments prove that the holes and hydroxyl radicals, to a minor extent, are responsible for the photocatalytic reactions. The experimental results are sustained by first-principles calculations, at the density functional theory (DFT) level, to decipher the structural parameters, electronic properties of the bulk, and surfaces of Ag2SeO3. By matching the experimental FE-SEM images and theoretical morphologies, we are capable of finding a correlation between the morphology and photocatalytic activity, along with photodegradation of the Rhodamine B dye under UV light, based on the different numbers of unsaturated superficial Ag and Se cations (local coordination, i.e., clusters) of each surface.

4.
J Exerc Rehabil ; 15(3): 392-400, 2019 Jun.
Article En | MEDLINE | ID: mdl-31316931

Considering the potential action of exercise on neuroplasticity and the need to adapt protocols to enhance functional recovery after nerve injury, this study evaluated the effects of two intensities of treadmill exercise on nervous and muscular tissues and functional recovery after nerve crush injury. Wistar rats were distributed into sedentary group (SED), and 10 m/min (EG10) and 17 m/min (EG17) exercise groups. The exercise started one week after the injury. Ten daily sessions were performed with a 2-day interval after the fifth day. The flexor digitorum muscle and two segments of the median nerve were analysed histomorphometrically by light microscopy and computer analysis. Function was evaluated by grasping test, in 3 moments. Approval number: 016/2013. In the proximal segments of the median nerve, the diameter of myelinated fibres and axon, the myelin sheath thickness and the ratio of axon diameter to fibre diameter (g ratio) were significantly larger (P<0.05) in the EG10. The number of myelinated fibres was lesser in the EG17 than the other groups (P<0.05). No difference in the number of myelinated fibres among groups was observed in the distal segments, but the SED presented significantly larger axon and fibre diameters than those that performed exercise. The EG10 presented greater area and diameter of muscle fibres (P<0.05) and functional improvement observed on the 21st day after injury (P<0.05) compared with the EG17 and SED. Continuous exercise at 10 m/min accentuates nerve regeneration, accelerating functional recovery and preventing muscle atrophy.

5.
Rev. enferm. UFPE on line ; 12(9): 2451-2458, set. 2018. ilus, graf, tab
Article Pt | BDENF | ID: biblio-995923

Objetivo: buscar evidências sobre o uso da terapia preventiva com isoniazida na redução do risco da tuberculose ativa entre as pessoas vivendo com HIV/Aids mediante os resultados dos ensaios de liberação do interferon-gama (IGRA). Método: trata-se de estudo bibliográfico, descritivo, tipo revisão integrativa, com busca de artigos nas bases de dados publicados de 2010 a 2017. Os descritores utilizados foram HIV, AIDS, terapia preventiva com isoniazida, tratamento da infecção latente da tuberculose, interferon-gama, ensaios de liberação do interferon-gama. Resultados: selecionaram-se três artigos, com 1815 PVHA e desenvolvimento de tuberculose em apenas um caso, após 24 meses de terapia preventiva com isoniazida. Altas taxas de reversão e conversão durante o seguimento. Conclusão: consideraram-se os estudos abordando os benefícios da terapia preventiva com isoniazida a partir do resultado do IGRA apresentam-se escassos, com incipiente sugestão da limitação do teste seriado para o seguimento da resposta da terapia entre as PVHA. Além disso, destaca-se a necessidade de se investir em mais estudos que explorem a temática e superem as limitações já encontradas tendo em vista a alta relevância de se investir em novas estratégias que impactem o controle da coinfecção TB/HIV.(AU)


Humans , Male , Female , Tuberculin Test , Acquired Immunodeficiency Syndrome , HIV , AIDS-Related Opportunistic Infections , Disease Prevention , Latent Tuberculosis , Interferon-gamma Release Tests , Isoniazid , Epidemiology, Descriptive
6.
Rev. enferm. UFPE on line ; 12(8): 2163-2169, ago. 2018. ilus, tab
Article Pt | BDENF | ID: biblio-994472

Objetivo: descrever as repercussões das variações glicêmicas e pressóricas de pacientes hipertensos e diabéticos. Método: estudo quantitativo, descritivo e exploratório, com 14 pacientes internados na unidade de terapia intensiva (UTI). Utilizou-se questionário estruturado para coleta de dados. Considerou-se significativo resultado com p < 0,05. Resultados: 78,5% dos pacientes se caracterizavam como hipertensos e 43% diabéticos. O período de internação compreendeu 66±84 dias e o período de ventilação mecânica foi de 70±95 dias. O Acute Physiology and Chronic Health Disease Classification System II (APACHE II) de 26±4 sinalizou a gravidade dos pacientes. Glicemia capilar, tempo de internação e de ventilação mecânica se associaram significativamente ao pior desfecho/óbito (p ≤ 0,05). Conclusão: uma das repercussões das alterações glicêmicas e pressóricas se associou ao risco de lesão renal. Além disso, a inexistência de um controle seguro e eficaz da glicemia conduziu os pacientes ao pior desfecho/óbito. Destaca-se a participação do enfermeiro não apenas para controlar as oscilações glicêmicas, mas também proporcionar um cuidado seguro e auxiliar a tomada de decisão, a fim de aumentar a sobrevida do paciente e garantir uma assistência eficaz e de qualidade.(AU)


Humans , Male , Female , Middle Aged , Aged , Blood Glucose , Critical Care , Diabetes Mellitus , Critical Care Nursing , Critical Care Outcomes , Hypertension , Intensive Care Units , Epidemiology, Descriptive , Surveys and Questionnaires
7.
Rev. enferm. UFPE on line ; 12(5): 1303-1309, maio 2018. ilus, tab
Article Pt | BDENF | ID: biblio-980604

Objetivo: identificar os fatores associados ao risco de doenças cardiovasculares em usuários da atenção primária à saúde (APS) hipertensos. Método: estudo quantitativo e transversal realizado com 115 usuários hipertensos cadastrados em uma unidade básica de saúde (UBS). Os dados foram registrados em questionário semiestruturado. Realizou-se análise descritiva e inferencial (teste t de Student e regressão logística multivariada). Valores p < 0,05 foram considerados significativos. Resultados: houve predomínio do sexo feminino (67,8%), idosos (> 60 anos) (66,1%), em uso contínuo de diuréticos (65,2%). Ao estratificar os usuários da APS de acordo com o risco para doenças cardiovasculares, observou-se que a maioria apresentou risco elevado (59,1%), risco médio (26,1%) e baixo risco (14,8%). Estão associados ao maior risco de eventos cardiovasculares os hipertensos com diabetes mellitus (DM) (p = 0,000), infarto agudo do miocárdio (IAM) (p = 0,000), insuficiência cardíaca congestiva (ICC) (p = 0,000) e aqueles em uso de diuréticos (p = 0,001). Conclusão: usuários da APS hipertensos com DM, IAM, ICC e em uso de diuréticos evoluíram com maior risco de evento cardiovascular. Nesse contexto, faz-se necessário proporcionar uma assistência integrada e pautada na prevenção não apenas para minimizar a ocorrência de complicações, mas principalmente para prolongar qualitativamente a vida dos usuários da APS hipertensos.(AU)


Humans , Male , Female , Primary Health Care , Cardiovascular Diseases , Risk Factors , Delivery of Health Care , Hypertension , Cross-Sectional Studies , Diabetes Mellitus , Diuretics
8.
J. pediatr. (Rio J.) ; 93(5): 497-507, Sept.-Oct. 2017. tab, graf
Article En | LILACS | ID: biblio-894056

Abstract Objective: To identify pathogenic genomic imbalances in patients presenting congenital heart disease (CHD) with extra cardiac anomalies and exclusion of 22q11.2 deletion syndrome (22q11.2 DS). Methods: 78 patients negative for the 22q11.2 deletion, previously screened by fluorescence in situ hybridization (FISH) and/or multiplex ligation probe amplification (MLPA) were tested by chromosomal microarray analysis (CMA). Results: Clinically significant copy number variations (CNVs ≥300 kb) were identified in 10% (8/78) of cases. In addition, potentially relevant CNVs were detected in two cases (993 kb duplication in 15q21.1 and 706 kb duplication in 2p22.3). Genes inside the CNV regions found in this study, such as IRX4, BMPR1A, SORBS2, ID2, ROCK2, E2F6, GATA4, SOX7, SEMAD6D, FBN1, and LTPB1 are known to participate in cardiac development and could be candidate genes for CHD. Conclusion: These data showed that patients presenting CHD with extra cardiac anomalies and exclusion of 22q11.2 DS should be investigated by CMA. The present study emphasizes the possible role of CNVs in CHD.


Resumo Objetivo: Identificar desequilíbrios genômicos patogênicos em pacientes que apresentam cardiopatias congênitas (CC) e anomalias extracardíacas e exclusão da síndrome de deleção 22q11.2 (SD22q11.2). Métodos: Foram avaliados por microarray cromossômico (CMA) 78 pacientes negativos para a deleção 22q11.2, previamente testados por hibridação in situ com fluorescência (FISH) e/ou amplificação de múltiplas sondas dependentes de ligação (MLPA). Resultados: Foram identificadas variações do número de cópias de DNA (CNVs) clinicamente significativas (≥ 300 kb) em 10% (8/78) dos casos, além de CNVs potencialmente relevantes em dois casos (duplicação de 993 kb em 15q21.1 e duplicação de 706 kb em 2p22.3). Genes envolvidos como IRX4, BMPR1A, SORBS2, ID2, ROCK2, E2F6, GATA4, SOX7, SEMAD6D, FBN1 e LTPB1 são conhecidos por atuar no desenvolvimento cardíaco e podem ser genes candidatos a CC. Conclusão: Esses dados mostram que pacientes que apresentam CC, com anomalias extracardíacas e exclusão da SD22q11.2, devem ser investigados por CMA. Ainda, este estudo enfatiza a possível função das CNVs nas CC.


Humans , Male , Female , Infant , Child , Adult , Chromosomes, Human, Pair 22/genetics , Chromosome Deletion , DNA Copy Number Variations/genetics , Heart Defects, Congenital/genetics , Oligonucleotide Array Sequence Analysis , Genomics
9.
J Pediatr (Rio J) ; 93(5): 497-507, 2017.
Article En | MEDLINE | ID: mdl-28336264

OBJECTIVE: To identify pathogenic genomic imbalances in patients presenting congenital heart disease (CHD) with extra cardiac anomalies and exclusion of 22q11.2 deletion syndrome (22q11.2 DS). METHODS: 78 patients negative for the 22q11.2 deletion, previously screened by fluorescence in situ hybridization (FISH) and/or multiplex ligation probe amplification (MLPA) were tested by chromosomal microarray analysis (CMA). RESULTS: Clinically significant copy number variations (CNVs ≥300kb) were identified in 10% (8/78) of cases. In addition, potentially relevant CNVs were detected in two cases (993kb duplication in 15q21.1 and 706kb duplication in 2p22.3). Genes inside the CNV regions found in this study, such as IRX4, BMPR1A, SORBS2, ID2, ROCK2, E2F6, GATA4, SOX7, SEMAD6D, FBN1, and LTPB1 are known to participate in cardiac development and could be candidate genes for CHD. CONCLUSION: These data showed that patients presenting CHD with extra cardiac anomalies and exclusion of 22q11.2 DS should be investigated by CMA. The present study emphasizes the possible role of CNVs in CHD.


Chromosome Deletion , Chromosomes, Human, Pair 22/genetics , DNA Copy Number Variations/genetics , Heart Defects, Congenital/genetics , Adult , Child , Female , Genomics , Humans , Infant , Male , Oligonucleotide Array Sequence Analysis
10.
Am J Med Genet A ; 173(4): 938-945, 2017 Apr.
Article En | MEDLINE | ID: mdl-28328130

Auriculocondylar syndrome, mainly characterized by micrognathia, small mandibular condyle, and question mark ears, is a rare disease segregating in an autosomal dominant pattern in the majority of the families reported in the literature. So far, pathogenic variants in PLCB4, GNAI3, and EDN1 have been associated with this syndrome. It is caused by a developmental abnormality of the first and second pharyngeal arches and it is associated with great inter- and intra-familial clinical variability, with some patients not presenting the typical phenotype of the syndrome. Moreover, only a few patients of each molecular subtype of Auriculocondylar syndrome have been reported and sequenced. Therefore, the spectrum of clinical and genetic variability is still not defined. In order to address these questions, we searched for alterations in PLCB4, GNAI3, and EDN1 in patients with typical Auriculocondylar syndrome (n = 3), Pierre Robin sequence-plus (n = 3), micrognathia with additional craniofacial malformations (n = 4), or non-specific auricular dysplasia (n = 1), which could represent subtypes of Auriculocondylar syndrome. We found novel pathogenic variants in PLCB4 only in two of three index patients with typical Auriculocondylar syndrome. We also performed a detailed comparative analysis of the patients presented in this study with those previously published, which showed that the pattern of auricular abnormality and full cheeks were associated with molecularly characterized individuals with Auriculocondylar syndrome. Finally, our data contribute to a better definition of a set of parameters for clinical classification that may be used as a guidance for geneticists ordering molecular testing for Auriculocondylar syndrome. © 2017 Wiley Periodicals, Inc.


Ear Diseases/diagnosis , Ear/abnormalities , Genetic Predisposition to Disease , Micrognathism/diagnosis , Mutation , Phospholipase C beta/genetics , Pierre Robin Syndrome/diagnosis , Adult , Child , Ear/pathology , Ear Diseases/classification , Ear Diseases/genetics , Ear Diseases/pathology , Endothelin-1/genetics , Female , GTP-Binding Protein alpha Subunits, Gi-Go/genetics , Gene Expression , Genes, Dominant , High-Throughput Nucleotide Sequencing , Humans , Male , Micrognathism/classification , Micrognathism/genetics , Micrognathism/pathology , Pedigree , Phenotype , Pierre Robin Syndrome/classification , Pierre Robin Syndrome/genetics , Pierre Robin Syndrome/pathology , Terminology as Topic
11.
REME rev. min. enferm ; 21: [1-6], 2017. ilus
Article En, Pt | LILACS, BDENF | ID: biblio-907990

Determinar o grau de comprometimento da função renal de pacientes que evoluíram com LRA não dialítica e identificar a frequência de recuperação da função renal na unidade de terapia intensiva (UTI). Método: estudo observacional, prospectivo e quantitativo desenvolvido com 90 pacientes após admissão na UTI. O acompanhamento ocorreu por 15 dias. Os dados foram coletados a partir dos registros do prontuário. Foram considerados significativos os resultados com p<0,05. Resultados: o uso de droga vasoativa e de ventilação mecânica se associou à ocorrência de lesão renal aguda (p=0,009; p= 0,001). Evoluíram com disfunção renal 95,6% dos pacientes, segundo a classificação Acute Kidney Injury Network (AKIN). De forma geral, 50% dos pacientes evoluíram com recuperação da função renal. Conclusão: a maior parte dos pacientes foi identificada com lesão ou falência renal, estágios de mais gravidade, segundo a classificação AKIN. A recuperação da função renal foi identificada em 50% dos pacientes.


To determine the degree of renal function impairment in patients who progressed with non-dialytic AKI and identify the frequency ofrenal function recovery in the intensive care unit (ICU). Method: this was an observational, prospective, and quantitative study developed with 90patients after admission to the ICU. The follow-up occurred for 15 days and data were collected from medical records. Results with p < 0.05 were considered significant. Results: the use of vasoactive drugs and mechanical ventilation was associated with the occurrence of acute renal injury (p= 0.009; p = 0.001). A total of 95.6% of patients evolved to renal dysfunction according to the Acute Kidney Injury Network (AKIN) classification. Overall, 50% of patients progressed to renal function recovery. Conclusion: most of the patients were identified with a lesion or renal failure, whichare more severe stages according to the AKIN classification. Renal function recovery was identified in 50% of patients.


Determinar el grado de compromiso de la función renal de pacientes con LRA no dialítica e identificar la frecuencia de recuperación dela función renal en la unidad de terapia intensiva (UTI). Método: Estudio observacional, prospectivo y cuantitativo con 90 pacientes después de laadmisión a la UTI, durante quince días. Los datos fueron recogidos de los expedientes médicos de los pacientes. Se consideraron significativos los resultados con p <0,05. Resultados: el uso de drogas vasoactivas y de ventilación mecánica fue asociado con la causa de la lesión renal aguda (p =0,009; p = 0,001). El 95,6% de los pacientes evolucionó a disfunción renal, según la clasificación de Acute Kidney Injury Network (AKIN). En general,el 50% de los pacientes evolucionó a recuperación de la función renal. Conclusión: La mayoría de los pacientes fue identificada con lesión o fallorenal, estadios de mayor gravedad, según la clasificación AKIN. La recuperación de la función renal fue identificada en el 50% de los pacientes.


Humans , Acute Kidney Injury , Intensive Care Units , Nursing Care , Risk Factors
12.
Rev. enferm. UFPE on line ; 10(12)dez. 2016. ilus
Article Pt | BDENF | ID: biblio-1031488

Objetivo: identificar os estressores do sono para profissionais de enfermagem na unidade de terapiaintensiva. Método: estudo transversal, descritivo, de abordagem quantitativa, realizado com 51 profissionaisde enfermagem, com experiência profissional de mais de 6 meses. Os dados foram coletados por meio daaplicação de questionários estruturados e do Environmental Stressor Questionnaire. Os resultados foramanalisados descritivamente e apresentados em figuras. Resultados: na perspectiva dos profissionais, osfatores mais estressantes para o sono de pacientes internados em unidade de terapia intensiva foram: “sentirmedo de morrer”, “sentir dor” e “não conseguir dormir”; 36,7% dos profissionais afirmaram ter adquiridoconhecimento sobre o sono durante o processo de formação básica (graduação/curso técnico). Conclusão: osprofissionais de enfermagem reconheceram que o medo da morte esteve no topo dentre os fatores muitoestressores para o sono do paciente em unidade de terapia intensiva e que o sono restaurador écomprometido por esses elementos.


Male , Female , Humans , Adult , Middle Aged , Critical Care , Nursing, Team , Inpatients , Sleep Deprivation , Sleep , Intensive Care Units , Nursing Care , Cross-Sectional Studies
13.
J Craniomaxillofac Surg ; 44(1): 16-20, 2016 Jan.
Article En | MEDLINE | ID: mdl-26602496

PURPOSE: The aim of this study was to use the TaqMan OpenArray system to evaluate associations between 39 genes and the etiology of nonsyndromic cleft lip and palate (NSCLP) in a Brazilian population. MATERIAL AND METHODS: This case-control association study was designed with 80.11% statistical power according to logistic regression (GPOWER software). The case group had 182 patients with NSCLP enrolled in the Brazilian Database on Orofacial Clefts. The controls included 355 healthy individuals with no history of oral clefting in the past three generations. All samples were genotyped for 253 tag single nucleotide polymorphisms (tagSNPs) in 39 genes, including two that had recently been associated with this process. The association analysis was performed using logistic regression and stepwise regression. The results were corrected for multiple testing [Bonferroni correction and False Discovery Rate (FDR)]. RESULTS: Twenty-four SNPs in 16 genes were significantly associated with the etiology of NSCLP, including MSX1, SPRY1, MSX2, PRSS35, TFAP2A, SHH, VAX1, TBX10, WNT11, PAX9, BMP4, JAG2, AXIN2, DVL2, KIF7, and TCBE3. Stepwise regression analysis revealed that 11 genes contributed to 15.5% of the etiology of NSCLP in the sample. CONCLUSION: This is the first study to associate KIF7 and TCEB3 with the etiology of NSCLP. New technological approaches using the same design should help to identify further etiological susceptibility variants.


Cleft Lip/genetics , Cleft Palate/genetics , Polymorphism, Single Nucleotide , Brazil , Case-Control Studies , Elongin , Female , Humans , Kinesin/genetics , Male , Transcription Factors/genetics
14.
Cleft Palate Craniofac J ; 52(4): 411-6, 2015 07.
Article En | MEDLINE | ID: mdl-24805874

OBJECTIVES: The aim of this study was to describe clinical features in subjects with palatal abnormalities and to assess the distribution of these features among those with and without 22q11.2 deletion. DESIGN: Descriptive cohort. PATIENTS: One hundred patients with palatal abnormalities and suspicion of 22q11.2 DS were included. METHODS: All patients were evaluated by a clinical geneticist, who completed a standardized clinical protocol. The 22q11.2 deletion screening was performed with fluorescence in situ hybridization using the TUPLE1 probe and multiplex ligation-dependent probe amplification using the P250-A1 kit. RESULTS: The 22q11.2 deletion was detected in 35 patients, in whom the most frequent clinical features were congenital heart disease (15/30 - 50%), developmental delay (19/35 - 54%), speech delay (20/35 - 57%), learning disabilities (27/35 - 77%), immunologic alterations (18/29 - 62%). In addition, the most common facial dysmorphisms in this group were long face (27/35 - 77%), typical nose (24/35 - 69%), and hooded eyelids (19/35 - 54%). Comparing features in patients with or without the deletion revealed significant differences (positively correlated with the deletion) for speech delay, learning disabilities, conductive hearing loss, number of dysmorphisms, long face, and hooded eyelids. Cleft lip and palate was negatively correlated with the deletion. CONCLUSIONS: The presence of speech delay, learning disabilities, conductive hearing loss, long face, and hooded eyelids should reinforce the suspicion of 22q11.2 DS in patients with palatal abnormalities and would help professionals direct clinical follow-up of these patients.


Abnormalities, Multiple , Chromosome Deletion , Chromosomes, Human, Pair 22 , DiGeorge Syndrome/diagnosis , Palate/abnormalities , Adolescent , Adult , Child , Child, Preschool , Female , Humans , In Situ Hybridization, Fluorescence , Infant , Infant, Newborn , Male
15.
Biomed Res Int ; 2014: 294963, 2014.
Article En | MEDLINE | ID: mdl-24991546

OBJECTIVE: To evaluate the added value of QuantiFERON TB-Gold in-Tube (QTF-GIT) over the tuberculin skin testing (TST) for detecting latent tuberculosis (TB) infection (LTBI) among patients with AIDS in a city with a low TB incidence rate (11.1/100,000 inhabitants) and universal BCG coverage. METHODS: Three hundred consecutive patients with AIDS in eight outpatient sexually transmitted disease public clinics in Brasilia were submitted to QFT-IT and TST between May 2011 and March 2013. A positive result of either test was considered to be LTBI. RESULTS: Median CD4-cell count was 477.5 cells/mm(3); 295 (98.3%) were using antiretroviral therapy. Eighteen patients (6%, 95% CI: 3.6%-9.3%) had LTBI, of whom 4 (1.3%, 95% CI: 0.04%-2.63%) had only a positive TST, 8 (2.7%, 95% CI: 0.8%-4.5%) had only a QFT-GIT positive test, and 6 (2%, 95% CI: 0.4%-3.6%) had positive results for both tests. This represents an 81.8% relative increase in LTBI detection when QFT-GIT is added to TST. The concordance between both tests was 96% (k = 0.48). CONCLUSIONS: The QFT-GIT alone was more effective to detect LTBI than TST alone and had an 81% added value as an add-on sequential test in this population with mild immunosuppression. The cost-effectiveness of these strategies remains to be evaluated.


Acquired Immunodeficiency Syndrome/pathology , Latent Tuberculosis/diagnosis , Latent Tuberculosis/pathology , Tuberculin Test/methods , Acquired Immunodeficiency Syndrome/complications , Acquired Immunodeficiency Syndrome/microbiology , Adult , CD4 Lymphocyte Count , Female , Humans , Interferon-gamma Release Tests , Latent Tuberculosis/complications , Male , Middle Aged
16.
Am J Hum Genet ; 94(1): 120-8, 2014 Jan 02.
Article En | MEDLINE | ID: mdl-24360810

Richieri-Costa-Pereira syndrome is an autosomal-recessive acrofacial dysostosis characterized by mandibular median cleft associated with other craniofacial anomalies and severe limb defects. Learning and language disabilities are also prevalent. We mapped the mutated gene to a 122 kb region at 17q25.3 through identity-by-descent analysis in 17 genealogies. Sequencing strategies identified an expansion of a region with several repeats of 18- or 20-nucleotide motifs in the 5' untranslated region (5' UTR) of EIF4A3, which contained from 14 to 16 repeats in the affected individuals and from 3 to 12 repeats in 520 healthy individuals. A missense substitution of a highly conserved residue likely to affect the interaction of eIF4AIII with the UPF3B subunit of the exon junction complex in trans with an expanded allele was found in an unrelated individual with an atypical presentation, thus expanding mutational mechanisms and phenotypic diversity of RCPS. EIF4A3 transcript abundance was reduced in both white blood cells and mesenchymal cells of RCPS-affected individuals as compared to controls. Notably, targeting the orthologous eif4a3 in zebrafish led to underdevelopment of several craniofacial cartilage and bone structures, in agreement with the craniofacial alterations seen in RCPS. Our data thus suggest that RCPS is caused by mutations in EIF4A3 and show that EIF4A3, a gene involved in RNA metabolism, plays a role in mandible, laryngeal, and limb morphogenesis.


Clubfoot/genetics , DEAD-box RNA Helicases/genetics , Eukaryotic Initiation Factor-4A/genetics , Hand Deformities, Congenital/genetics , Pierre Robin Syndrome/genetics , Alleles , Amino Acid Sequence , Animals , Bone and Bones/abnormalities , Child , Child, Preschool , Chromosome Mapping , DEAD-box RNA Helicases/metabolism , Eukaryotic Initiation Factor-4A/metabolism , Female , Humans , Male , Molecular Sequence Data , Mutation, Missense , Protein Conformation , Zebrafish/abnormalities
17.
Eur J Med Genet ; 56(9): 515-20, 2013 Sep.
Article En | MEDLINE | ID: mdl-23886712

The 22q11.2 Deletion Syndrome (22q11.2DS) is the most common microdeletion syndrome in humans, with a highly variable phenotype. This chromosomal region contains low copy repeat (LCR) sequences that mediate non-allelic homologous recombination which predispose to copy number abnormalities at this locus. This article describes three patients investigated for suspicion of 22q11.2DS presenting atypical copy number abnormalities overlapping or not with the common ∼3 Mb deletion. They were investigated by G-banding karyotype, Multiplex-ligation dependent probe amplification (MLPA) and array Genomic Hibridization (aGH). Clinical and molecular data were compared with literature, in order to contribute to genotype-phenotype correlation. Atypical chromosomal abnormalities were detected: 3.6 Mb deletion at 22q11.21-q11.23 between LCRs B-F in patient 1 and approximately 1.5 Mb deletion at 22q11.21-q11.22 between LCRs D-E in patients 2 and 3. The breakpoints detected in patient 1 have not been previously described. These findings exemplify the complexity and genetic heterogeneity observed in 22q11.2 region and corroborates the idea that genetic modifiers contribute to the phenotypic variability observed in proximal and distal 22q11.2 deletion syndromes.


22q11 Deletion Syndrome/genetics , Chromosome Deletion , 22q11 Deletion Syndrome/diagnosis , Child , Child, Preschool , Chromosome Breakpoints , Female , Genetic Heterogeneity , Humans , Male , Phenotype , Segmental Duplications, Genomic
18.
J Pediatr (Rio J) ; 89(2): 137-44, 2013.
Article En | MEDLINE | ID: mdl-23642423

OBJECTIVE: Cleft lip with or without cleft palate (CL±P) or cleft palate (CP) are groups of malformations named orofacial clefts (OC), which are the second leading cause of birth defects. This study aimed to analyze clinical and epidemiological features of Brazilian patients with OC, studying cases treated in the reference center of the state of Paraná (PR). METHODS: 2,356 charts were reviewed and 1,838 were evaluated by the same clinical geneticist. Data were collected in the reference center, and compared with those of the Health Department of the state of Paraná. Clinical characteristics, presence of other anomalies, and birth prevalence were evaluated. RESULTS: 389 (21.2%) patients had CP, 437 (23.8%) had cleft lip (CL), and 1,012 (55%) had cleft lip and palate (CLP). Syndromic OC were identified in 15.3% of patients, 10.4% of patients with CL±P, and 33.9% of patients with CP. Common additional anomalies were: central nervous system, limbs, cardiovascular, and musculoskeletal defects. The number of syndromic cases was lower when clinical evaluation was performed by other medical specialists when compared to that of the clinical geneticist. Birth prevalence was 1/1,010 live births. Lack of notification with the national birth registry was observed in 49.9% of CL±P. The present data suggests a decrease of 18.52% in the prevalence of non-syndromic OC after folic acid fortification in Brazil. CONCLUSION: Better understanding of clinical and epidemiological aspects of OC is crucial to improve the understanding of pathogenesis, promote preventive strategies, and guide clinical care, including the presence of clinical geneticists in the multidisciplinary team for OC treatment.


Cleft Lip/epidemiology , Cleft Palate/epidemiology , Birth Rate/trends , Brazil/epidemiology , Chi-Square Distribution , Child , Cleft Lip/diagnosis , Cleft Palate/diagnosis , Female , Humans , Male , Prevalence , Sex Distribution
19.
Plast Surg Int ; 2013: 641570, 2013.
Article En | MEDLINE | ID: mdl-23577250

Background. High-quality clinical and genetic descriptions are crucial to improve knowledge of orofacial clefts and support specific healthcare polices. The objective of this study is to discuss the potential and perspectives of the Brazilian Database on Orofacial Clefts. Methods. From 2008 to 2010, clinical and familial information on 370 subjects was collected by geneticists in eight different services. Data was centrally processed using an international system for case classification and coding. Results. Cleft lip with cleft palate amounted to 198 (53.5%), cleft palate to 99 (26.8%), and cleft lip to 73 (19.7%) cases. Parental consanguinity was present in 5.7% and familial history of cleft was present in 26.3% subjects. Rate of associated major plus minor defects was 48% and syndromic cases amounted to 25% of the samples. Conclusions. Overall results corroborate the literature. Adopted tools are user friendly and could be incorporated into routine patient care. The BDOC exemplifies a network for clinical and genetic research. The data may be useful to develop and improve personalized treatment, family planning, and healthcare policies. This experience should be of interest for geneticists, laboratory-based researchers, and clinicians entrusted with OC worldwide.

20.
J. pediatr. (Rio J.) ; 89(2): 137-144, mar.-abr. 2013. tab
Article Pt | LILACS | ID: lil-671448

OBJETIVO: Fissura labial com ou sem fissura palatina (FL ± P) ou fissura palatina (FP) são grupos de malformações chamados fissuras orofaciais (FO) e são a segunda causa de defeitos congênitos. O objetivo do estudo foi analisar características clínicas e epidemiológicas de pacientes brasileiros com FO, estudando casos tratados no centro de referência do estado do Paraná (PR). MÉTODOS: Foram analisados 2.356 gráficos. Destes, 1.838 foram avaliados pelo mesmo geneticista clínico. Os dados foram coletados no centro de referência e analisados na Secretaria de Estado da Saúde do Paraná. Foram avaliadas as características clínicas, a presença de outras anomalias e a prevalência de nascimentos. RESULTADOS: No total, 389 (21,2%) pacientes apresentaram fissura palatina (FP), 437 (23,8%) apresentaram fissura labial (FL) e 1.012 (55%) apresentaram fissura labiopalatina (FLP). As FO sindrômicas foram identificadas em 15,3% dos pacientes, 10,4% dos pacientes com FL ± P, e 33,9% dos pacientes com FP. Anomalias comuns adicionais foram: sistema nervoso central, membros, sistema cardiovascular e sistema musculoesquelético. O número de casos sindrômicos foi menor nos centros em que a avaliação clínica foi realizada por outros especialistas, em comparação aos locais em que ela foi realizada por um geneticista clínico. A prevalência de nascimentos foi de 1/1.010 nascidos vivos. A ausência de notificação junto ao cartório de registro civil foi observada em 49,9% dos casos de FL ± P. No Brasil, nossos dados sugerem uma redução de 18,52% na prevalência de FO não sindrômicas após a fortificação com ácido fólico. CONCLUSÃO: Um melhor entendimento dos aspectos clínicos e epidemiológicos das FO é fundamental para melhorar a compreensão de sua patogênese, promover estratégias de prevenção e promover orientações com relação a cuidados clínicos, com a presença de geneticistas clínicos na equipe multidisciplinar para tratamento de FO, por exemplo.


OBJECTIVE: Cleft lip with or without cleft palate (CL±P) or cleft palate (CP) are groups of malformations named orofacial clefts (OC), which are the second leading cause of birth defects. This study aimed to analyze clinical and epidemiological features of Brazilian patients with OC, studying cases treated in the reference center of the state of Paraná (PR). METHODS: 2,356 charts were reviewed and 1,838 were evaluated by the same clinical geneticist. Data were collected in the reference center, and compared with those of the Health Department of the state of Paraná. Clinical characteristics, presence of other anomalies, and birth prevalence were evaluated. RESULTS: 389 (21.2%) patients had CP, 437 (23.8%) had cleft lip (CL), and 1,012 (55%) had cleft lip and palate (CLP). Syndromic OC were identified in 15.3% of patients, 10.4% of patients with CL±P, and 33.9% of patients with CP. Common additional anomalies were: central nervous system, limbs, cardiovascular, and musculoskeletal defects. The number of syndromic cases was lower when clinical evaluation was performed by other medical specialists when compared to that of the clinical geneticist. Birth prevalence was 1/1,010 live births. Lack of notification with the national birth registry was observed in 49.9% of CL±P. The present data suggests a decrease of 18.52% in the prevalence of non-syndromic OC after folic acid fortification in Brazil. CONCLUSIONS: Better understanding of clinical and epidemiological aspects of OC is crucial to improve the understanding of pathogenesis, promote preventive strategies, and guide clinical care, including the presence of clinical geneticists in the multidisciplinary team for OC treatment.


Child , Female , Humans , Male , Cleft Lip/epidemiology , Cleft Palate/epidemiology , Birth Rate/trends , Brazil/epidemiology , Chi-Square Distribution , Cleft Lip/diagnosis , Cleft Palate/diagnosis , Prevalence , Sex Distribution
...