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1.
Arch Phys Med Rehabil ; 103(1): 52-61, 2022 01.
Artigo em Inglês | MEDLINE | ID: mdl-34371016

RESUMO

OBJECTIVE: To conduct the first item-level exploration of scale and index structure of the self-report Behavior Rating Inventory of Executive Function-Adult version (BRIEF-A) in traumatic brain injury (TBI). DESIGN: This was an observational cross-sectional study design using secondary data. We conducted exploratory factor analyses (EFA) to explore the index structure and scale structure of the BRIEF-A. We conducted EFA with all 70 items of the BRIEF-A to examine the index structure. Based on the finding of index structure, we conducted EFA on the 30 items of the Behavioral Regulation Index (BRI) and the 40 items of the Metacognitive Index (MI). SETTING: Data were collected through 5 studies in outpatient and community settings in the southeast United States. PARTICIPANTS: Individuals (N=338) aged 18-89 years with a history of mild to severe TBI who were able to speak English fluently. INTERVENTIONS: Not applicable. MAIN OUTCOME MEASURES: The BRIEF-A. RESULTS: The 2-factor structure aligned with the BRIEF-A manual at the index level. Scale structure for the MI (40 items) resulted in 1 factor, whereas the BRI (30 items) could be represented by either a 2- or 3-factor structure. The 2-factor structure of the BRI is more parsimonious and matched other factor analyses derived from the sum of scale items. CONCLUSIONS: We confirmed the manual designated index structure (BRI and MI) of the BRIEF-A but took precautions against using the 9 scales. Instead, we recommend using the 2 designated index scores and 2 newly identified composite scores representing Behavioral Control Trait and Emotional Control Trait.


Assuntos
Lesões Encefálicas Traumáticas/reabilitação , Função Executiva , Autorrelato/normas , Adulto , Idoso , Idoso de 80 Anos ou mais , Estudos Transversais , Análise Fatorial , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Psicometria , Estados Unidos , Veteranos , Adulto Jovem
2.
Rev Panam Salud Publica ; 44: e127, 2020.
Artigo em Espanhol | MEDLINE | ID: mdl-33165396

RESUMO

OBJECTIVE: To estimate the trend in infant mortality, inequality between jurisdictions and inequality associated with social conditions in Argentina between 1980 and 2017. METHODS: Ecological and time series study of infant mortality and its inequality. Official data on infant mortality, births and unmet basic needs were obtained; the infant mortality rate, the Gini index and the concentration index were calculated. The trend was also analyzed with a linear regression model and the regression coefficient and its statistical significance were calculated. RESULTS: Infant mortality was reduced by 71.2% (from 32.41 to 9.34 per 1 000 live births). Inequality by jurisdiction also decreased, and the Gini index fell from 0,163 to 0,09. Inequality associated with social conditions also showed a reduction, and the concentration index was reduced from -0.153 to -0.079. Although infant mortality declined throughout the period, this decline was not always accompanied by a reduction in the Gini index and the concentration index. CONCLUSIONS: The trend in the infant mortality rate decreased while the inequality in its distribution by jurisdiction and the inequality associated with social conditions did not always accompany this reduction.

3.
J Prosthet Dent ; 119(4): 620-625, 2018 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-28967404

RESUMO

STATEMENT OF PROBLEM: Little information is available on the effect of drilling speed on surrounding bone during the removal of an abutment screw fragment. PURPOSE: The purpose of this in vitro study was to compare, in vitro, the peak temperature increase during the removal of fractured abutment screws from implants placed in a porcine mandible, using drilling speeds of 600 or 2000 rpm. MATERIAL AND METHODS: Twenty 4.3×13-mm dental implants were placed in 10 dissected porcine mandibles: 2 implants per mandible, 1 on each side. Localized defects were created in 20 surface-treated abutment screws, which were then tightened into each implant until a reproducible fracture occurred in each screw. The fractured screws were removed with a handpiece removal kit and irrigated with room-temperature water at either 600 or 2000 rpm. The temperature rise at the implant surface was measured at 3 levels with 3 type-K thermocouples. Repeated measure ANOVA was performed with the Tukey-Kramer post hoc test for mean pair-wise comparisons (α=.05 for all tests). RESULTS: Mean peak temperatures were significantly higher at 2000 rpm than at 600 rpm in the mid-body (P<.001) and crestal (P=.003) regions but not in the apical (P=.225) implant locations. No significant differences in mean peak temperatures were found among the 3 locations using 600 rpm (P=.179). In the 2000-rpm group, mean peak temperature in the mid-body area was consistently higher than that in the apical (P<.001) area, and more instances of temperature rise above 56°C and 60°C were observed. In 1 implant from this group, the estimated peak temperature exceeded the bone damage threshold value (50°C for 30 seconds). CONCLUSIONS: A drilling speed of 2000 rpm during the removal of abutment screw fragments caused overheating of the outer surface of the implant which may damage the surrounding bone; a speed of 600 rpm appears to be safe.


Assuntos
Parafusos Ósseos , Equipamentos Odontológicos de Alta Rotação , Remoção de Dispositivo , Transferência de Energia , Temperatura , Animais , Dente Suporte , Implantes Dentários , Técnicas In Vitro , Teste de Materiais , Modelos Animais , Suínos
4.
J Hum Genet ; 62(2): 235-241, 2017 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-27708271

RESUMO

Martin-Bell syndrome is mainly caused by the expansion of CGG trinucleotide repeats (>200 CGG) in the first exon of the FMR1 gene, leading to hypermethylation of the promoter region and silencing of the FMR1 protein expression. These changes are responsible for a phenotype with varying degrees of mental retardation, a long face with large and protruding ears, macroorchidism and autistic behavior. There may also be, however, patients who exhibit typical features of the syndrome without any expansion in the FMR1 gene; thus, other mechanisms affecting the expression of the FMR1 gene were assessed in 25 out of 29 ascertained patients with the typical phenotype without full mutation. Promoter methylation status of FMR1, mutations in its sequence and copy number variations (CNVs) in genes associated with intellectual disability were investigated. In 25 independent male patients without expansion, the promoter region was unmethylated; one patient with a full mutation showed methylation mosaicism; and a female patient had 81.2% of CpG sites methylated and 18.8% hemimethylated. One heterozygous duplication in exon 6 of the PDCD6 gene (programmed cell death 6) and a heterozygous deletion in exon 5 of the CHL1 gene (cell adhesion molecule L1), respectively, were found in two independent patients.


Assuntos
Metilação de DNA/genética , Proteína do X Frágil da Deficiência Intelectual/genética , Síndrome do Cromossomo X Frágil/genética , Regiões Promotoras Genéticas/genética , Expansão das Repetições de Trinucleotídeos/genética , Adolescente , Adulto , Proteínas Reguladoras de Apoptose/genética , Sequência de Bases , Proteínas de Ligação ao Cálcio/genética , Criança , Pré-Escolar , Ilhas de CpG/genética , Variações do Número de Cópias de DNA/genética , Feminino , Heterogeneidade Genética , Humanos , Masculino , Fenótipo , Análise de Sequência de DNA , Deleção de Sequência/genética , Venezuela , Adulto Jovem
6.
J Hum Genet ; 61(3): 215-22, 2016 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-26538302

RESUMO

Dominantly inherited ataxias (spinocerebellar ataxias, SCAs) are a genetically heterogeneous group of neurologic diseases characterized by progressive cerebellar and spinal tract degeneration with ataxia and other signs, common to all known subtypes. Several types are relatively frequent worldwide, but in several countries, one specific SCA may show a higher prevalence owing to founder phenomena. In Venezuela, genetic epidemiological features of SCAs have been assessed during the last 30 years; mutations in ATXN1 (SCA1), ATXN2 (SCA2), ATXN3 (SCA3), CACNA1A (SCA6), ATXN7 (SCA7), ATXN8 (SCA8), ATXN10 (SCA10), TBP (SCA17) and ATN1 (dentatorubral pallidoluysian atrophy, DRPLA) loci were searched among 115 independent families. SCA7 was the most frequent subtype (26.6%), followed by SCA3 (25.0%), SCA2 (21.9%), SCA1 (17.2%), SCA10 (4.7%) and DRPLA (3.1%); in 43% of the families, the subtype remained unidentified. SCA7 mutations displayed strong geographic aggregation in two independent founder foci, and SCA1 showed a very remote founder effect for a subset of families. SCA10 families were scattered across the country, but all had an identical in-phase haplotype carried also by Mexican, Brazilian and Sioux patients, supporting a very old common Amerindian origin. Prevalence for dominant SCAs in Venezuela was estimated as 1:25 000 nuclear families, provenances of which are either Caucasoid, African or Amerindian.


Assuntos
Etnicidade/genética , Predisposição Genética para Doença , Epidemiologia Molecular , Ataxias Espinocerebelares/epidemiologia , Adolescente , Adulto , Haplótipos , Humanos , Ataxias Espinocerebelares/genética , Venezuela/epidemiologia
7.
BMC Bioinformatics ; 16 Suppl 7: S9, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-25953124

RESUMO

BACKGROUND: The lives of half a million children in the United States are severely affected due to the alterations in their functional and mental abilities which epilepsy causes. This study aims to introduce a novel decision support system for the diagnosis of pediatric epilepsy based on scalp EEG data in a clinical environment. METHODS: A new time varying approach for constructing functional connectivity networks (FCNs) of 18 subjects (7 subjects from pediatric control (PC) group and 11 subjects from pediatric epilepsy (PE) group) is implemented by moving a window with overlap to split the EEG signals into a total of 445 multi-channel EEG segments (91 for PC and 354 for PE) and finding the hypothetical functional connectivity strengths among EEG channels. FCNs are then mapped into the form of undirected graphs and subjected to extraction of graph theory based features. An unsupervised labeling technique based on Gaussian mixtures model (GMM) is then used to delineate the pediatric epilepsy group from the control group. RESULTS: The study results show the existence of a statistically significant difference (p < 0.0001) between the mean FCNs of PC and PE groups. The system was able to diagnose pediatric epilepsy subjects with the accuracy of 88.8% with 81.8% sensitivity and 100% specificity purely based on exploration of associations among brain cortical regions and without a priori knowledge of diagnosis. CONCLUSIONS: The current study created the potential of diagnosing epilepsy without need for long EEG recording session and time-consuming visual inspection as conventionally employed.


Assuntos
Mapeamento Encefálico/métodos , Encéfalo/patologia , Eletroencefalografia/métodos , Epilepsia/diagnóstico , Modelos Teóricos , Rede Nervosa/fisiologia , Processamento de Sinais Assistido por Computador , Adolescente , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Valor Preditivo dos Testes , Couro Cabeludo/patologia , Sensibilidade e Especificidade
8.
ScientificWorldJournal ; 2014: 349718, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-25136660

RESUMO

Several standard protocols based on repetitive transcranial magnetic stimulation (rTMS) have been employed for treatment of a variety of neurological disorders. Despite their advantages in patients that are retractable to medication, there is a lack of knowledge about the effects of rTMS on the autonomic nervous system that controls the cardiovascular system. Current understanding suggests that the shape of the so-called QRS complex together with the size of the different segments and intervals between the PQRST deflections of the heart could predict the nature of the different arrhythmias and ailments affecting the heart. This preliminary study involving 10 normal subjects from 20 to 30 years of age demonstrated that rTMS can induce changes in the heart rhythm. The autonomic activity that controls the cardiac rhythm was indeed altered by an rTMS session targeting the motor cortex using intensity below the subject's motor threshold and lasting no more than 5 minutes. The rTMS activation resulted in a reduction of the RR intervals (cardioacceleration) in most cases. Most of these cases also showed significant changes in the Poincare plot descriptor SD2 (long-term variability), the area under the low frequency (LF) power spectrum density curve, and the low frequency to high frequency (LF/HF) ratio. The RR intervals changed significantly in specific instants of time during rTMS activation showing either heart rate acceleration or heart rate deceleration.


Assuntos
Sistema Nervoso Autônomo/fisiologia , Frequência Cardíaca/fisiologia , Estimulação Magnética Transcraniana , Adulto , Eletrocardiografia , Feminino , Humanos , Masculino , Adulto Jovem
9.
Open Respir Arch ; 6(2): 100302, 2024.
Artigo em Espanhol | MEDLINE | ID: mdl-38444983

RESUMO

Introduction: COPD is the third cause of death globally and in Argentina COPD has a prevalence of 14.5%, but the management of patients in real life is unknown. The objectives of this work were: a) To know the opinions of pulmonologists in Argentina who manage patients with COPD in different aspects of daily practice. b) Compare our findings with specialists from Spain and c) Consider our results to plan future directives in the management of COPD in our country. Material and methods: 89 pulmonologists from Argentina, experts in COPD, participated in a Delphi consensus, who responded to a survey with five domains. a) Adherence to treatment, b) Control of COPD, c) Treatable features, d) Inhalation devices and e) Accessibility to therapeutic resources. Results: After two rounds of questions, total consensus was achieved in 77.6% of the statements and discriminating by domain: Treatment adherence: 5/9 (55.5%). COPD control: 10/14 (71.4%). Treatable traits: 6/6 (100%). Inhalation devices: 10/14 (71.4%) and Accessibility to treatment: 6/6 (100%). In most of the affirmations, the results were similar to those obtained by Spanish pulmonologists. Conclusions: Pulmonologists from Argentina manage COPD patients in a similar way and with minimal differences with our Spanish colleagues. It became evident that, in daily practice, there are factors that negatively impact access to the indicated treatments. Our work could serve as a starting point to improve this situation.

10.
J Hum Genet ; 58(1): 3-6, 2013 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-22971727

RESUMO

Huntington disease (HD) phenotypes without a HTT mutation are known as HD-like (HDL) syndromes and are caused by mutations in other loci. HDL2, almost indistinguishable from HD, is due to expansions in the Junctophilin 3 locus (JPH3) with a worldwide Sub-Saharan ethnic origin. Sixteen independent patients with involuntary movements, psychiatric disturbances and ataxia not having a HTT mutation were searched for loci PRNP (prion protein, HDL1), JPH3 (HDL2), ATN1 (dentatorubral-pallidoluysian atrophy), ATX2 (spinocerebellar ataxia 2) ATXN3 (spinocerebellar ataxia 3), and TBP (spinocerebellar ataxia 17=HDL4). Markers Duffy, Kell, Diego, D9S1120, plus six JPH3 intragenic single-nucleotide polymorphisms were tested to ascertain ethnic origin. Four unrelated choreic patients had an expanded allele at JPH3. Three of them carried the African marker Duffy null. All four families carried with the mutation the same haplotype most frequent in African populations; Amerindian alleles D9D1120*9 and Diego A; or Kell allele K were absent. HDL2 in Venezuela had a low, but higher relative frequency (2.6%) than that in other Caucasoid populations. It should be searched first in choreic patients not having HTT mutations. The most likely remote ethnic origin for all detected families was African.


Assuntos
Doença de Huntington/etnologia , Doença de Huntington/epidemiologia , Proteínas de Membrana/genética , Adulto , África Subsaariana , Idoso , População Negra/genética , Éxons/genética , Família , Feminino , Frequência do Gene , Humanos , Doença de Huntington/genética , Doença de Huntington/patologia , Íntrons/genética , Masculino , Pessoa de Meia-Idade , Mutação , Fenótipo , Polimorfismo de Nucleotídeo Único/genética , Venezuela/epidemiologia , Venezuela/etnologia
11.
Sensors (Basel) ; 13(12): 17516-33, 2013 Dec 17.
Artigo em Inglês | MEDLINE | ID: mdl-24351648

RESUMO

Fractional calculus is considered when derivatives and integrals of non-integer order are applied over a specific function. In the electrical and electronic domain, the transfer function dependence of a fractional filter not only by the filter order n, but additionally, of the fractional order α is an example of a great number of systems where its input-output behavior could be more exactly modeled by a fractional behavior. Following this aim, the present work shows the experimental ac large-signal frequency response of a family of electrical current sensors based in different spintronic conduction mechanisms. Using an ac characterization set-up the sensor transimpedance function Z(t)(JF) is obtained considering it as the relationship between sensor output voltage and input sensing current, Z(t)(jf)= V(o, sensor)(jf)/I(sensor)(jf). The study has been extended to various magnetoresistance sensors based in different technologies like anisotropic magnetoresistance (AMR), giant magnetoresistance (GMR), spin-valve (GMR-SV) and tunnel magnetoresistance (TMR). The resulting modeling shows two predominant behaviors, the low-pass and the inverse low-pass with fractional index different from the classical integer response. The TMR technology with internal magnetization offers the best dynamic and sensitivity properties opening the way to develop actual industrial applications.

12.
PLoS One ; 17(3): e0263679, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35286328

RESUMO

BACKGROUND: Reported cases of COVID-19 may be underestimated due to mild or asymptomatic cases and a low testing rate in the general population. RESEARCH QUESTION: What is the seroprevalence of SARS-CoV-2 infection in the general population and how it compares with the data on SARS-CoV-2 cases reported by a national health surveillance system (SNVS 2.0). STUDY DESIGN AND METHODS: This was a population-based, seroepidemiological, cross-sectional study in the city of Puerto Madryn, a middle size city in the Province of Chubut, Argentina. The study period was between March 3 and April 17, 2021. The sample size was calculated using the technique of calculation of confidence intervals for a proportion. Participants were selected using stratified and cluster probability sampling. A total of 1405 subjects were invited to participate in the study. Participants were divided into the following four age groups: 1) 0 to 14, 2) 15 to 39, 3) 40 to 64, and 4) 65 or older. After informed consent was obtained, a blood sample was taken by puncture of the fingertip, and a structured questionnaire was administered to evaluate demographics, socioeconomic status, level of education, comorbidities and symptoms suggestive of COVID-19. COVID-19 seroprevalence was documented using an immunoenzymatic test for the in vitro detection of IgG antibodies specific to the spike protein of SARS-CoV-2. RESULTS: A total of 987 participants completed the survey. Seropositivity in the full study population was 39,2% and in those under 15 years of age, 47.1%. Cases reported by the SNSV 2.0 amounted to 9.35% of the total population and 1.4% of those under 15 years of age. INTERPRETATION: The prevalence of COVID-19 infection in the general population is four times higher than the number of cases reported by the SNVS 2.0 in the city of Puerto Madryn. For each child under the age of 15 identified by the SNVS 2.0 with COVID-19, there are more than 30 unrecognized infections. Seroepidemiological studies are important to define the real extent of SARS-CoV-2 infection in a particular community. Children may play a significant role in the progression of the current pandemic.


Assuntos
Anticorpos Antivirais/sangue , COVID-19/epidemiologia , Imunoglobulina G/sangue , SARS-CoV-2/imunologia , Glicoproteína da Espícula de Coronavírus/imunologia , Adolescente , Adulto , Distribuição por Idade , Idoso , Argentina/epidemiologia , COVID-19/sangue , Criança , Pré-Escolar , Estudos Transversais , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Pessoa de Meia-Idade , Prevalência , Tamanho da Amostra , Estudos Soroepidemiológicos , Adulto Jovem
13.
Front Pediatr ; 10: 928612, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36016876

RESUMO

The new COVID-19 disease is caused by a novel coronavirus (SARS-CoV-2), that probably originated in Wuhan, China, and has currently infected 505,817,953 people and caused 6,213,876 deaths in the world. On the American continent, 152,265,980 cases and 2,717,108 deaths have been reported to WHO (World Health Organization). The Latin America and the Caribbean (LAC) region presents an epidemiological challenge due to its population's heterogeneity and socioeconomic inequality. A particularly vulnerable population is that of children with cancer, and their mortality from COVID-19 has been reported to be 3.6% globally. This work aimed to study the lethality of SARS-CoV-2 infection in children with cancer in the Latin American region. Our objective was to systematically review published scientific literature and search hospital databases in Latin America to explore mortality in this region. A median of mortality of 9.8% was found in the articles analyzed. In addition, we collected five databases from Latin American hospitals. We concluded that there was an underestimation in the mortality registry of this group of patients in the analyzed region. Therefore, although the causes are unknown, it is necessary to strengthen the case-reporting system to determine the reality in complex and particular areas such as Latin America.

14.
PLoS One ; 16(2): e0246793, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-33571300

RESUMO

BACKGROUND: There is limited evidence on the clinical characteristics of SARS-CoV-2 infection in Latin America. We present findings from a nationwide study in Argentina. RESEARCH QUESTION: What is disease severity measures and risk factors are associated with admission to an intensive care unit and mortality? STUDY DESIGN AND METHODS: Data were extracted from the COVID-19 database of the Integrated Argentina Health Information System, encompassing the period of March 3rd to October 2nd, 2020, using a standardized case report form that included information on contact history, clinical signs and symptoms, and clinical diagnosis. Information was collected at the initial site of care and follow-up conducted through calls by the regional healthcare authorities. A confirmed case of COVID-19 was defined as having a positive result through sequencing or real-time reverse-transcriptase polymerase chain reaction (RT-PCR) assay of nasal and pharyngeal swab specimens. RESULTS: RT-PCR testing was positive in 738,776 cases. Complete datasets were available for analysis in 207,079 cases. Mean age was 42.9±18.8 years, 50.0% were males. Frequent co-existing conditions included hypertension (19.2%), diabetes (9.7%), asthma (6.1%) and obesity (5.2%). Most common symptoms included fever (58.5%), cough (58.0%), headache (45.4%), and sore throat (42.1%). Death or ICU admission were independently associated with older age, male, coma, dyspnea or tachypnea, and seizures, with underlying co-morbidities such as immunodeficiency, chronic renal failure, and liver disease showing the strongest effects. INTERPRETATION: Most cases of COVID-19 diagnosed in Argentina were mild and had a favorable outcome, but fatality rates were relatively elevated. Risk factors for adverse outcome included older age, male sex, coma and seizures, and the concurrent presence of several morbidities. These data may be useful for healthcare providers and healthcare policy makers of low-middle income and Latin American countries to guide decisions toward optimized care during the pandemic.


Assuntos
COVID-19/epidemiologia , COVID-19/fisiopatologia , Adulto , Argentina/epidemiologia , Asma/epidemiologia , Asma/fisiopatologia , COVID-19/diagnóstico , Comorbidade , Tosse/epidemiologia , Tosse/fisiopatologia , Diabetes Mellitus/epidemiologia , Diabetes Mellitus/fisiopatologia , Feminino , Febre/epidemiologia , Febre/fisiopatologia , Cefaleia/epidemiologia , Cefaleia/fisiopatologia , Humanos , Hipertensão/epidemiologia , Hipertensão/fisiopatologia , Unidades de Terapia Intensiva , Masculino , Pessoa de Meia-Idade , Fatores de Risco , SARS-CoV-2/isolamento & purificação , Índice de Gravidade de Doença , Adulto Jovem
15.
Eur Heart J Case Rep ; 5(2): ytaa580, 2021 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-33738414

RESUMO

BACKGROUND: A thrombus in transit (TIT) is a life-threatening condition associated with pulmonary embolism (PE). While TIT was once considered a rare diagnosis, its emergence has risen in recent years mainly through advancement in medical technology. Rare cases of a thrombus in transit crossing a patent foramen ovale in the context of pulmonary embolism have been reported. The appropriate treatment of patients in this setting remains unclear. CASE SUMMARY: We describe a 64-year-old man who presented with syncope to the emergency room secondary to acute pulmonary embolism. Initial transthoracic echocardiogram revealed a large intracardiac thrombus in transit across a patent foramen ovale, verified by transoesophageal echocardiogram. He underwent anticoagulation and urgent surgical thrombectomy with a favourable outcome. DISCUSSION: Risk stratification of patient with acute PE is mandatory for determining the appropriate therapeutic management. Initial risk stratification is based on clinical symptoms and signs of haemodynamic instability which indicate a high risk or early death associated massive PE. Thrombolytic therapy is indicated in high-risk patients (Grade 1B), while anticoagulation alone is recommended for intermediate-high- to low-risk patients. Assessment for intracardiac thrombi in PE modifies the treatment strategy in case of a thrombus in transit.

16.
J Inherit Metab Dis ; 33 Suppl 3: S455-63, 2010 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-20978940

RESUMO

Acute intermittent porphyria (AIP) caused by mutations in the hydroxymethylbilane synthase gene (HMBS), has been reported in almost all human populations, with varying frequencies. A founder effect for a few specific mutations in geographic regions where prevalence is high (Sweden, The Netherlands, Switzerland) has been established through haplotype analyses, while some other mutations (R26H, R26C) have been repeatedly reported in many populations with different genetic backgrounds. Epidemiological, biochemical and molecular data on AIP in Venezuela were gathered during the last two decades; 24 independent families with AIP were ascertained, based on a deficient HMBS activity and increased porphobilinogen (PBG) urinary excretion. Molecular analyses of coding and splicing regions were performed in 23 families, to establish disease-causing changes, and haplotype analyses were used to assess ancestral kinships between them. Changes were detected in 16 out of 23 families, 9 of them being different: R26H, R26C, c.87+5G>A, c.267-54_61delgaaggggt, R116W, Q180X, c.825+1G>A, c.913-1delG, and 3' UTR *277G>A. Seven mutations were found, each one in a single family; one mutation was present in two unrelated families, whereas mutation Q180X was shared by 7 independent kindreds, all of which had the same haplotype (-);T;A;T;G;T;A;G (3167delG; 3530T>C; 3581A>G; 3982T>C; 6479G>T; 7052T>C; 7064A>C; 7779G>A). Six out of seven different Q180X carrier families came from the same geographic focus (Santa Lucía, Miranda State). Dense geographic aggregation with one identical haplotype strongly suggests a remote founder phenomenon for these Venezuelan AIP families, carrying an unreported but most frequent mutation.


Assuntos
Hidroximetilbilano Sintase/genética , Mutação , Polimorfismo de Nucleotídeo Único , Porfiria Aguda Intermitente/genética , Adolescente , Adulto , Biomarcadores/urina , Criança , Pré-Escolar , Análise Mutacional de DNA , Feminino , Efeito Fundador , Frequência do Gene , Predisposição Genética para Doença , Haplótipos , Hereditariedade , Heterozigoto , Humanos , Hidroximetilbilano Sintase/metabolismo , Masculino , Pessoa de Meia-Idade , Linhagem , Fenótipo , Porfobilinogênio/urina , Porfiria Aguda Intermitente/diagnóstico , Porfiria Aguda Intermitente/enzimologia , Porfiria Aguda Intermitente/epidemiologia , Prevalência , Fatores de Tempo , Venezuela/epidemiologia , Adulto Jovem
17.
Invest Clin ; 51(3): 403-14, 2010 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-21302591

RESUMO

Hemoglobin City of Hope (Hb CH) (HBB: c.208G>A, beta 69 (E13)Gly>Ser) is a rare, anomalous change. Seven independent carriers reported so far, had not displayed any hematological manifestations. The ethnic origin of the known instances is presumably heterogeneous, although they are mainly Mediterraneans or equatorial West Africans. We describe the case of a compound heterozygote in trans for Hb S (Glu6Val) and Hb City of Hope (Gly69Ser) in an anemic two year-old boy with a severe immune-deficient phenotype and fatal chronic parvovirus B19 infection. Haplotype with the Hb S was Bantu; while it was a mixed atypical Benin/Cameroon for Hb CH. Remote ancestral origin of the City of Hope mutation in this family seems to be SubSaharan African. The compound heterozygosis in trans for hemoglobins S and City of Hope, jointly with an unfavorable HBB control region background and a viral chronic infection, seemed the cause of the fatal outcome in the patient. When accompanied by other Hb deleterious mutations in trans, Hb CH should not be considered any longer as an innocuous or functionally silent variant.


Assuntos
Medula Óssea/anormalidades , Hemoglobina Falciforme/genética , Hemoglobinas Anormais/genética , África Subsaariana , Pré-Escolar , Humanos , Masculino , Índice de Gravidade de Doença
18.
IEEE Trans Biomed Eng ; 67(2): 632-643, 2020 02.
Artigo em Inglês | MEDLINE | ID: mdl-31144622

RESUMO

OBJECTIVE: Connectivity patterns of interictal epileptiform discharges are all subtle indicators of where the three-dimensional (3D) source of a seizure could be located. These specific patterns are explored in the recorded electroencephalogram (EEG) signals of 20 individuals diagnosed with focal epilepsy to assess how their functional brain maps could be affected by the 3D onset of a seizure. METHODS: Functional connectivity maps, estimated by phase synchrony among EEG electrodes, were obtained by applying a data-driven recurrence-based method. This is augmented through a novel approach for selecting optimal parameters that produce connectivity matrices that are deemed significant for assessing epileptiform activity in context to the 3D source localization of seizure onset. These functional connectivity matrices were evaluated in different brain areas to gauge the regional effects of the 3D epileptic source. RESULTS: Empirical evaluations indicate high synchronization in the temporal and frontal areas of the effected epileptic hemisphere, whereas strong links connect the irritated area to frontal and temporal lobes of the opposite hemisphere. CONCLUSION: Epileptic activity originating in the temporal or frontal areas is seen to affect these areas in both hemispheres. SIGNIFICANCE: The results obtained express the dynamics of focal epilepsy in context to both the epileptogenic zone and the affected distant areas of the brain.


Assuntos
Eletroencefalografia/métodos , Epilepsias Parciais , Lobo Frontal/fisiopatologia , Rede Nervosa/fisiopatologia , Processamento de Sinais Assistido por Computador , Lobo Temporal/fisiopatologia , Adulto , Epilepsias Parciais/diagnóstico , Epilepsias Parciais/fisiopatologia , Feminino , Lobo Frontal/fisiologia , Humanos , Masculino , Rede Nervosa/fisiologia , Lobo Temporal/fisiologia
19.
Rev Alerg Mex ; 66(1): 55-64, 2019.
Artigo em Espanhol | MEDLINE | ID: mdl-31013407

RESUMO

BACKGROUND: There are very few studies about the prevalence of allergic rhinitis in Argentina. OBJECTIVE: To determine the prevalence of allergic rhinitis in a population of inhabitants between the ages of 5 and 44 in Argentina. METHODS: A cross-sectional national study in which a self-reported questionnaire was used. The included participants are between the ages of 5 and 44 and they reside in urban areas. The information was collected by phone. RESULTS: 3200 participants were surveyed: 51.8% were women, 37.6% were between the ages of 5 and 19, and 62.4%, were between the ages of 20 and 44. The global prevalence of symptoms of allergic rhinitis was of 20.5%; the most frequent symptoms were sneezing (58.5%) and nasal congestion (51.4%). Overall, 44.3% of the participants had a family history of allergies. Allergic rhinitis was more frequent in women; the prevalence was of 22.3% in the group of participants between the ages of 5 and 19, and of 19.4% in the group of participants between the ages of 20 and 40 (p=0.0545); 63.8% of participants with symptoms did not have a medical diagnosis. CONCLUSIONS: The results of this first cross-sectional national survey have confirmed the high prevalence of self-reported symptoms of allergic rhinitis in adults and children in Argentina, particularly in women.


Antecedentes: Existen pocos estudios sobre la prevalencia de rinitis alérgica en Argentina. Objetivo: Determinar la prevalencia de rinitis alérgica en una población entre cinco y 44 años de edad en Argentina. Métodos: Estudio transversal nacional en el que se utilizó un cuestionario autoinformado. Se incluyeron participantes entre cinco y 44 años de edad residentes en áreas urbanas. La información se recolectó telefónicamente. Resultados: Se encuestaron 3200 participantes: 51.8 % del sexo femenino, 37.6 % tenía entre cinco y 19 años y 62.4 % entre 20 y 44 años. La prevalencia global de síntomas de rinitis alérgica fue de 20.5 %; los síntomas más frecuentes fueron los estornudos (58.5 %) y la congestión nasal (51.4 %). En general, 44.3 % de los participantes tenía antecedentes familiares de alergia. La rinitis alérgica fue más frecuente en las mujeres; la prevalencia fue de 22.3 % en el grupo de cinco a 19 años y de 19.4 % en el de 20 a 44 años (p = 0.0545); 63.8 % de los participantes con síntomas no tenía diagnóstico médico. Conclusiones: Los resultados de esta primera encuesta transversal nacional confirman la alta prevalencia de síntomas autoinformados de rinitis alérgica en adultos y niños en Argentina, especialmente en las mujeres.


Assuntos
Rinite Alérgica/epidemiologia , Adolescente , Adulto , Argentina/epidemiologia , Criança , Pré-Escolar , Estudos Transversais , Feminino , Humanos , Masculino , Prevalência , Autorrelato , Saúde da População Urbana , Adulto Jovem
20.
Cad Saude Publica ; 35(12): e00214518, 2019.
Artigo em Espanhol | MEDLINE | ID: mdl-31800789

RESUMO

The impact of immunization depends on timely application of the vaccines, especially relevant in children. Successful strategies for improving timeliness include the use of nominalized records and follow-up mechanisms. This study assessed the result of reminders before and after the scheduled date of vaccination to improve timely vaccination at six months. A before-and-after intervention study was performed with a time series and comparator group with 1,856 children from Villa María, Córdoba, Argentina. The strategy was implemented in the city's public services and consisted of preparing weekly vaccination schedules, performing follow-up, and contacting and/or making active searches for no-show cases. Assessment of the result used the percentage of timely vaccination with the third dose of the pentavalent vaccine. Time series were built for each group, before and after, and were analyzed with a simple linear model. Means of the percentages were calculated with their confidence intervals, using bootstrap, and compared with the permutation method. In the intervention group, the mean percentage of timely vaccination increased significantly by 2.6 times, reaching 61.7% (56.2; 78.1). No significant increase occurred in the comparator group: p = 0.1101. The mean rates were similar before the implementation. Timely vaccination improved in children receiving the intervention. The results indicate that the proposed strategy to use nominalized records can reduce the delay in application of vaccines.


El impacto de la inmunización depende de que las vacunas se apliquen oportunamente, aspecto aún más relevante en los niños. Las estrategias exitosas para mejorar la oportunidad incluyen el uso de registros nominalizados y mecanismos de seguimiento. En este estudio se evaluó el resultado del uso de recordatorios previos, y posteriores a la fecha de vacunación, para mejorar la vacunación oportuna a los seis meses. Se realizó un estudio de intervención antes-después, con serie cronológica y grupo de comparación, con 1.856 niños de Villa María, Córdoba, Argentina. La estrategia se implementó en los servicios públicos de la ciudad y consistió en confeccionar agendas de vacunación semanalmente, realizar el seguimiento y contactar y/o realizar búsqueda activa en los casos de no concurrencia. Para evaluar el resultado se utilizó el porcentaje de vacunados oportunamente con tercera dosis de quíntuple. Se construyeron series cronológicas para cada grupo, antes y después, y se analizaron con un modelo lineal simple. Se calculó la media de los porcentajes y sus intervalos de confianza utilizando bootstrap y se compararon con el método de permutaciones. En el grupo de intervención, la media del porcentaje de vacunación oportuna aumentó significativamente 2,6 veces, llegando a 61,7% (56,2; 78,1). En el de comparación no hubo un incremento significativo: p = 0,1101. Antes de la implementación sus medias eran similares. Se mejoró la vacunación oportuna de los niños bajo intervención. Los resultados indican que la estrategia propuesta para utilizar los registros nominalizados puede reducir la demora en la aplicación de las vacunas.


O impacto da imunização depende de quais vacinas se aplicaram no momento oportuno, característica ainda mais relevante nas crianças. As estratégias bem sucedidas para melhorar a oportunidade incluem o uso de registros nominalizados e mecanismos de monitoramento. Neste estudo foi avaliado o resultado da utilização de avisos prévios, e posteriores a data de vacinação, para melhorar a vacinação num prazo de seis meses. Foi realizado um estudo de intervenção antes e depois, com série cronológica e grupo de comparação, com 1.856 crianças da Villa Maria, Córdoba, Argentina. A estratégia foi implementada nos serviços públicos da cidade e consistiu em elaborar agendas de vacinação semanalmente, fazer monitoramento, contatar e desenvolver uma pesquisa ativa nos casos de não concorrência. Para avaliar o resultado foi utilizada a porcentagem de vacinados adequadamente com a terceira dose de quíntupla. Foram construídas séries cronológicas para cada grupo, antes e depois, foram analisadas com um modelo lineal simples. Foi calculada a media das porcentagens e seus intervalos de confiança usando bootstrap e foram comparados com o método de permutações. No grupo de intervenção, a média de porcentagem de vacinação oportuna aumentou significativamente 2,6 vezes, chegando a 61,7% (56,2; 78,1). No grupo de comparação não ouve um incremento significativo: p = 0,1101. Antes da implementação as médias eram similares. Foi melhorada a vacinação oportuna das crianças sob intervenção. Os resultados indicam que a estratégia proposta para utilizar os registros nominalizados pode reduzir a demora nas aplicações das vacinas.


Assuntos
Programas de Imunização/estatística & dados numéricos , Esquemas de Imunização , Cobertura Vacinal/estatística & dados numéricos , Vacinas/administração & dosagem , Argentina , Estudos de Coortes , Humanos , Programas de Imunização/métodos , Lactente , Serviços Preventivos de Saúde , Cobertura Vacinal/métodos
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