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1.
Braz. j. biol ; 84: e257402, 2024. tab, graf
Article in English | LILACS, VETINDEX | ID: biblio-1355856

ABSTRACT

Abstract Visceral leishmaniasis (VL) is an infectious disease predominant in countries located in the tropics. The prediction of occurrence of infectious diseases through epidemiologic modeling has revealed to be an important tool in the understanding of its occurrence dynamic. The objective of this study was to develop a forecasting model for the incidence of VL in Maranhão using the Seasonal Autoregressive Integrated Moving Average model (SARIMA). We collected monthly data regarding VL cases from the National Disease Notification System (SINAN) corresponding to the period between 2001 and 2018. The Box-Jenkins method was applied in order to adjust a SARIMA prediction model for VL general incidence and by sex (male or female) for the period between January 2019 and December 2013. For 216 months of this time series, 10,431 cases of VL were notified in Maranhão, with an average of 579 cases per year. With regard to age range, there was a higher incidence among the pediatric public (0 to 14 years of age). There was a predominance in male cases, 6437 (61.71%). The Box-Pierce test figures for overall, male and female genders supported by the results of the Ljung-Box test suggest that the autocorrelations of residual values act as white noise. Regarding monthly occurrences in general and by gender, the SARIMA models (2,0,0) (2,0,0), (0,1,1) (0,1,1) and (0,1,1) (2, 0, 0) were the ones that mostly adjusted to the data respectively. The model SARIMA has proven to be an adequate tool for predicting and analyzing the trends in VL incidence in Maranhão. The time variation determination and its prediction are decisive in providing guidance in health measure intervention.


Resumo A leishmaniose visceral (LV) é uma doença de natureza infecciosa, predominante em países de zonas tropicais. A predição de ocorrência de doenças infecciosas através da modelagem epidemiológica tem se revelado uma importante ferramenta no entendimento de sua dinâmica de ocorrência. O objetivo deste estudo foi desenvolver um modelo de previsão da incidência da LV no Maranhão usando o modelo de Média Móvel Integrada Autocorrelacionada Sazonal (SARIMA). Foram coletados os dados mensais de casos de LV através do Sistema de Informação de Agravos de Notificação (SINAN) correspondentes ao período de 2001 a 2018. O método de Box-Jenkins foi aplicado para ajustar um modelo de predição SARIMA para incidência geral e por sexo (masculino e feminino) de LV para o período de janeiro de 2019 a dezembro de 2023. Durante o período de 216 meses dessa série temporal, foram registrados 10.431 casos de LV no Maranhão, com uma média de 579 casos por ano. Em relação à faixa etária, houve maior registro no público pediátrico (0 a 14 anos). Houve predominância do sexo masculino, com 6437 casos (61,71%). Os valores do teste de Box-Pierce para incidência geral, sexo masculino e feminino reforçados pelos resultados do teste Ljung-Box sugerem que as autocorrelações de resíduos apresentam um comportamento de ruído branco. Para incidência mensal geral e por sexo masculino e feminino, os modelos SARIMA (2,0,0) (2,0,0), (0,1,1) (0,1,1) e (0,1,1) (2, 0, 0) foram os que mais se ajustaram aos dados, respectivamente. O modelo SARIMA se mostrou uma ferramenta adequada de previsão e análise da tendência de incidência da LV no Maranhão. A determinação da variação temporal e sua predição são determinantes no norteamento de medidas de intervenção em saúde.


Subject(s)
Humans , Male , Female , Infant, Newborn , Infant , Child, Preschool , Child , Adolescent , Leishmaniasis, Visceral/diagnosis , Leishmaniasis, Visceral/epidemiology , Seasons , Brazil/epidemiology , Incidence , Models, Statistical
2.
Braz. j. biol ; 84: e250607, 2024. tab, graf
Article in English | LILACS, VETINDEX | ID: biblio-1355881

ABSTRACT

Abstract Newcastle disease (ND) is an infectious, highly contagious and lethal disease of avian species. It is considered that ducks are natural reservoir or carrier for Newcastle disease virus (NDV) and are resistant against different strains of NDV. Current study was designed to evaluate the pathogenesis of Newcastle disease in domestic ducks through histopathology, immunohistochemistry (IHC) and serum biochemical changes. For this purpose, eighty ducks were reared for 42 days and divided in two groups A and B. Ducks in group A were challenged with (NDV) at rate of 0.1 ml of ELD50 (virus titer 107.32/100µl) on second week of age, whereas Group B was control negative. Splenomegaly, atrophy of thymus and necrotic lesion in kidney were observed on 9th day of post infection. Hepatic degeneration and mononuclear cell infiltration were noticed in proventriculus and intestine in challenged ducks. Viral antigen detected in lungs, intestine, proventriculus and lymphoid organs of infected ducks through IHC. Albumin and total protein values were significantly low in infected groups A as compared to control group B. ALT, AST, and ALP values were significantly high in infected group A. On 5th and 7th day of post infection oropharyngeal swabs were negative for NDV and cloacal swabs were positive for NDV through Reverse transcriptase polymerase chain reaction. It is concluded that ducks are susceptible to NDV and virulent strain of NDV caused disease in ducks.


Resumo A doença de Newcastle (DN) é uma doença infecciosa, altamente contagiosa e letal de espécies aviárias. Considera-se que os patos são reservatórios ou portadores naturais do vírus da doença de Newcastle (VDN) e são resistentes a diferentes cepas de VDN. O presente estudo foi desenvolvido para avaliar a patogênese da DN em patos domésticos por meio de histopatologia, imuno-histoquímica (IHQ) e alterações bioquímicas séricas. Para este propósito, 80 patos foram criados por 42 dias e divididos em dois grupos A e B. Os patos do grupo A foram submetidos ao VDN a uma taxa de 0,1 ml de ELD50 (título viral de 107,32 / 100 µl) na segunda semana de idade, enquanto o Grupo B foi controle negativo. Esplenomegalia, atrofia do timo e lesão necrótica no rim foram observadas no 9º dia pós-infecção. Degeneração hepática e infiltração de células mononucleares foram observadas no proventrículo e intestino em patos infectados. Antígeno viral foi detectado em pulmões, intestino, proventrículo e órgãos linfoides de patos infectados por IHQ. Os valores de albumina e proteína total foram significativamente baixos no grupo A infectado em comparação com o grupo B. Os valores de ALT, AST e ALP foram significativamente altos no grupo A. No 5º e no 7º dia após a infecção, os esfregaços orofaríngeos foram negativos para VDN, enquanto os esfregaços cloacais foram positivos para VDN por meio da reação em cadeia da polimerase via transcriptase reversa. Conclui-se que os patos são suscetíveis ao VDN e à cepa virulenta de VDN que causou doenças em patos.


Subject(s)
Animals , Newcastle disease virus , Ducks , Newcastle Disease/diagnosis
3.
Braz. j. biol ; 83: e251671, 2023. tab
Article in English | LILACS, VETINDEX | ID: biblio-1345526

ABSTRACT

Abstract Trypanosomiasis is a protozoan infection affecting both human and animals in almost all parts of the world. It can affect a very large range of domestic and wild hosts including camelids, equines, cattle, buffaloes, sheep, goats, pigs, dogs and other carnivores, deer, gazelles and elephants. This review paper was designed to address the effect of this economically important disease in countries on the Red Sea, especially in Egypt, Sudan, Somalia, and Saudi Arabia during the period 2010 to 2020. The prevalence of trypanosomiasis is different between these countries due to different types of diagnostic methods (Giemsa-stained blood smears, Hematocrit centrifugation, Serological test, and molecular analysis PCR) used and differential distribution of vector (Tse tse) flies. In current review, retrospective studies of published literature on distribution and prevalence of Trypanosoma evansi infection in the Red Sea Countries was conducted [Google Scholar and PubMed were used to retrieve the published literature from 2000-2020. A total of 77 published articles met the eligibility criteria and were reviewed. A total of 16 reports have been reported on the prevalence and distribution of Trypnosoma evansi infection in the Red Sea Countries have been from 2010-2020]. According to the published literature, we can say that trypanosomiasis in camels are more prevalent in Sudan than in other countries, followed by 17% and 51.78% in both clinical and non-clinical cases. Hence, the reliable diagnostic tests should be used for rapid treatment or control of the disease as if not treated appropriately in early-stage, can lead to death of the camels.


Resumo A tripanossomíase é uma infecção por protozoário que afeta humanos e animais em quase todas as partes do mundo. Pode afetar grande variedade de hospedeiros domésticos e selvagens, incluindo camelídeos, equinos, gado, búfalos, ovelhas, cabras, porcos, cães e outros carnívoros, veados, gazelas e elefantes. Este artigo de revisão foi elaborado para abordar o efeito dessa doença economicamente importante em países do mar Vermelho, especialmente Egito, Sudão, Somália e Arábia Saudita, durante o período de 2010 a 2020. A prevalência de tripanossomíase é diferente entre esses países devido a tipos distintos de métodos diagnósticos (esfregaços de sangue corados com Giemsa, centrifugação de hematócrito, teste sorológico e PCR de análise molecular) usados ​​e distribuição diferencial de moscas vetoras (tsé-tsé). Na revisão atual, foram realizados estudos retrospectivos da literatura publicada sobre distribuição e prevalência da infecção por Trypanosoma evansi nos países do mar Vermelho [Google Scholar e PubMed foram usados ​​para recuperar a literatura publicada de 2000 a 2020. Um total de 77 artigos publicados preencheu os critérios de elegibilidade e foi revisado. E há também 16 relatos sobre a prevalência e distribuição da infecção por Trypnosoma evansi nos países do mar Vermelho, de 2010 a 2020]. De acordo com a literatura publicada, podemos afirmar que a tripanossomíase em camelos é mais prevalente no Sudão do que em outros países, seguida por 17% e 51,78% em casos clínicos e não clínicos. Assim, os testes diagnósticos confiáveis ​​devem ser utilizados para o tratamento rápido ou controle da doença, pois, se eles não forem tratados de forma adequada na fase inicial, isso pode levar à morte dos camelos.


Subject(s)
Animals , Dogs , Trypanosomiasis/diagnosis , Trypanosomiasis/veterinary , Trypanosomiasis/epidemiology , Deer , Cattle , Sheep , Prevalence , Retrospective Studies , Indian Ocean , Horses
4.
Braz. j. biol ; 83: e249104, 2023. tab
Article in English | LILACS, VETINDEX | ID: biblio-1339389

ABSTRACT

Abstract The present study was designed to evaluate the strength of association of raised plasma homocysteine concentration as a risk factor for coronary heart disease independent of conventional risk factor. It was a case control study conducted at Punjab Institute of Cardiology Lahore. A total of 210 subjects aged 25 to 60 years comprising of 105 newly admitted patients of CHD as cases and 105 age and sex matched healthy individuals with no history of CHD as control were recruited for the study. Fasting blood samples were obtained from cases and controls. Plasma homocysteine was analyzed by fluorescence polarization immunoassay (FPIA) method on automated immunoassay analyzer (Abbott IMX). Total cholesterol, triglyceride and HDL cholesterol were analyzed using calorimetric kit methods. The concentration of LDL cholesterol was calculated using Friedewald formula. The patients were also assessed for traditional risk factors such as age, sex, family history of CVD, hypertension, smoking and physical activity, and were compared with control subjects. The collected data was entered in SPSS version 24 for analysis and interpretation.The mean age in controls and experimental groups were 43.00± 8.42 years and 44.72± 8.59 years with statistically same distribution (p- value= 0.144). The mean plasma homocysteine for cases was 22.33± 9.22 µmol/L where as it was 12.59±3.73 µmol/L in control group. Highly significant difference was seen between the mean plasma level of homocysteine in cases and controls (p˂0.001).Simple logistic regression indicates a strong association of coronary heart disease with hyperhomocysteinemia (OR 7.45), which remained significantly associated with coronary heart disease by multivariate logistic regression (OR 7.10, 95%C1 3.12-12.83, p=0.000). The present study concludes that elevated levels of Plasma homocysteine is an independent risk factor for coronary heart disease independent of conventional risk factors and can be used as an indicator for predicting the future possibility for the onset of CVD.


Resumo O presente estudo foi desenhado para avaliar a força da associação da concentração elevada de homocisteína no plasma como um fator de risco para doença cardíaca coronária independente do fator de risco convencional. Foi um estudo de caso-controle realizado no Punjab Institute of Cardiology Lahore. Um total de 210 indivíduos com idade entre 25 e 60 anos, compreendendo 105 pacientes recém-admitidos de CHD como casos e 105 indivíduos saudáveis ​​pareados por idade e sexo sem histórico de CHD como controle, foi recrutado para o estudo. Amostras de sangue em jejum foram obtidas de casos e controles. A homocisteína plasmática foi analisada pelo método de imunoensaio de polarização de fluorescência (FPIA) em analisador de imunoensaio automatizado (Abbott IMX). Colesterol total, triglicerídeos e colesterol HDL foram analisados ​​usando métodos de kit calorimétrico. A concentração de colesterol LDL foi calculada pela fórmula de Friedewald. Os pacientes também foram avaliados para fatores de risco tradicionais, como idade, sexo, história familiar de DCV, hipertensão, tabagismo e atividade física, e foram comparados com indivíduos de controle. Os dados coletados foram inseridos no SPSS versão 24 para análise e interpretação. A média de idade nos grupos controles e experimentais foi de 43,00 ± 8,42 anos e 44,72 ± 8,59 anos com distribuição estatisticamente igual (p-valor = 0,144). A homocisteína plasmática média para os casos foi de 22,33 ± 9,22 µmol / L, enquanto no grupo controle foi de 12,59 ± 3,73 µmol / L. Diferença altamente significativa foi observada entre o nível plasmático médio de homocisteína em casos e controles (p ˂ 0,001). A regressão logística simples indica uma forte associação de doença cardíaca coronária com hiper-homocisteinemia (OR 7,45), que permaneceu significativamente associada com doença cardíaca coronária por multivariada regressão logística (OR 7,10, 95% C1 3,12-12,83, p = 0,000). O presente estudo conclui que níveis elevados de homocisteína plasmática são fator de risco independente para doença cardíaca coronária, independentemente dos fatores de risco convencionais, e pode ser usado como um indicador para prever a possibilidade futura de aparecimento de DCV.


Subject(s)
Humans , Adult , Middle Aged , Coronary Disease/embryology , Hyperhomocysteinemia/diagnosis , Hyperhomocysteinemia/epidemiology , Case-Control Studies , Risk Factors , Fasting
5.
Braz. j. biol ; 83: e246385, 2023. tab, graf
Article in English | LILACS, VETINDEX | ID: biblio-1339384

ABSTRACT

Abstract Coronary heart disease (CHD) has been associated with significant morbidity and mortality worldwide. Although remain controversial, several studies have demonstrated the association of M. pneumoniae infections with atherosclerosis. We evaluated the possible association of mycoplasma infections in patients diagnosed with atherosclerosis by ELISA and PCR methods. Atherosclerotic tissue samples and blood samples were collected for the detection of mycoplasma antibodies (IgA) by ELISA from the 97 patients with coronary artery disease (CAD). M. pneumoniae specific IgA, IgG and IgM were measured by using the Anti-M. pneumoniae IgA/IgG/IgM ELISA. Detection of M. pneumoniae targeting the P1 adhesion gene was performed by PCR Acute infection of M. pneumoniae was diagnosed in 43.3% (42) of patients by PCR. The M. pneumoniae specific antibodies were detected in 36.1% (35) of patients. Twenty-five (25.8%) cases had IgG antibodies, 15 (15.5%) cases had IgM antibodies, 3 (3.1%) cases had IgA antibodies, 10 (10.3%) cases had both IgM + IgG antibodies and 1 (1%) case of each had IgM + IgA and IgG + IgA antibodies. None of the cases was positive for all three antibodies. A Pearson correlation coefficient analysis revealed an excellent correlation between the PCR and the serological results (r=0.921, p<0.001). A majority (17, 40.5%) of the M. pneumoniae positive patients are within the 41-50 years of age group, followed by 10 (23.8%) patients in the age group of 61-70 years and 2 (4.8%) patients were >70 years of age. Our study reported an unusually higher prevalence of M. pneumoniae by serological tests (36.1%) and PCR (43.3%). Although the hypothesis of the association of M. pneumoniae and CAD is yet to be proven, the unusually high prevalence of M. pneumoniae in CAD patients indicates an association, if not, in the development of atherosclerosis.


Resumo A doença coronariana (DCC) tem sido associada a significativa morbidade e mortalidade em todo o mundo. Embora ainda sejam controversos, vários estudos têm demonstrado a associação de infecções por M. pneumoniae com aterosclerose. Avaliamos a possível associação de infecções por micoplasma em pacientes com diagnóstico de aterosclerose pelos métodos ELISA e PCR. Amostras de tecido aterosclerótico e amostras de sangue foram coletadas para a detecção de anticorpos contra micoplasma (IgA) por ELISA de 97 pacientes com doença arterial coronariana (DAC). IgA, IgG e IgM específicos para M. pneumoniae foram medidos usando o Anti-M. pneumoniae IgA / IgG / IgM ELISA. A detecção de M. pneumoniae visando o gene de adesão P1 foi realizada por PCR. A infecção aguda por M. pneumoniae foi diagnosticada em 43,3% (42) dos pacientes pela PCR. Os anticorpos específicos para M. pneumoniae foram detectados em 36,1% (35) dos pacientes. Vinte e cinco (25,8%) casos tinham anticorpos IgG, 15 (15,5%) casos tinham anticorpos IgM, 3 (3,1%) casos tinham anticorpos IgA, 10 (10,3%) casos tinham anticorpos IgM + IgG e 1 (1%) caso de cada um tinha anticorpos IgM + IgA e IgG + IgA. Nenhum dos casos foi positivo para os três anticorpos. A análise do coeficiente de correlação de Pearson revelou uma excelente correlação entre o PCR e os resultados sorológicos (r = 0,921, p < 0,001). A maioria (17, 40,5%) dos pacientes positivos para M. pneumoniae está na faixa etária de 41-50 anos, seguida por 10 (23,8%) pacientes na faixa etária de 61-70 anos e 2 (4,8%) pacientes tinham > 70 anos de idade. Nosso estudo relatou uma prevalência incomumente maior de M. pneumoniae por testes sorológicos (36,1%) e PCR (43,3%). Embora a hipótese da associação de M. pneumoniae e DAC ainda não tenha sido comprovada, a prevalência incomumente alta de M. pneumoniae em pacientes com DAC indica uma associação, se não, no desenvolvimento de aterosclerose.


Subject(s)
Humans , Adult , Middle Aged , Aged , Coronary Artery Disease/epidemiology , Mycoplasma Infections/diagnosis , Mycoplasma Infections/epidemiology , Immunoglobulin M , Prevalence , Antibodies, Bacterial , Mycoplasma pneumoniae
6.
Braz. j. biol ; 83: e244311, 2023. tab, graf
Article in English | LILACS, VETINDEX | ID: biblio-1285616

ABSTRACT

Abstract Tuberculosis is a communicable disease with high morbidity and mortality rates in developing countries. The study's primary objective is to compare conventional methods such as acid-fast bacillus (AFB) culture and microscopy with rapid diagnostic methods. The secondary objective is to compare histopathological and microbiological findings in suspected patients with tubercular lymphadenitis. A total of 111 samples (August 2018 to September 2019) of lymph nodes were processed for AFB microscopy, AFB cultures, drug-susceptibility testing (DST), histopathology, and Xpert Mycobacterium Tuberculosis (MTB)/resistance to Rifampin (RIF) assays. Out of 111 lymph node samples, 6 (5.4%) were positive for AFB smear microscopy, 84 (75.6%) were positive for AFB culture, 80 (70.7%) were positive on Gene Xpert, and 102 (91.8%) were indicative of tuberculosis for histopathology studies. Mycobacteria growth indicator tube (MGIT) culture positivity was 84 (75.6%) higher than solid Lowenstein-Jensen (LJ) culture 74 (66.6%). Positive cultures underwent phenotypic DST. Two cases were Multidrug-resistant (MDR) on DST, while three cases were Rifampicin resistant on Gene Xpert. The sensitivity of Genexpert was (62%) against the conventional AFB culture method. The poor performance of conventional lymphadenitis diagnostic methods requires early and accurate diagnostic methodology. Xpert MTB/RIF test can help in the treatment of multidrug-resistant TB cases. Nonetheless, rapid and conventional methods should be used for complete isolation of Mycobacterium tuberculosis.


Resumo A tuberculose é uma doença transmissível com altas taxas de morbimortalidade nos países em desenvolvimento. O objetivo principal do estudo é comparar métodos convencionais, como cultura de bacilo álcool-ácido resistente (BAAR) e microscopia, com métodos de diagnóstico rápido. O objetivo secundário é comparar os achados histopatológicos e microbiológicos em pacientes com suspeita de linfadenite tubercular. Um total de 111 amostras (agosto de 2018 a setembro de 2019) de gânglios linfáticos foi processado ​​para microscopia de AFB, culturas de AFB, teste de susceptibilidade a drogas (DST), histopatologia e Xpert Mycobacterium tuberculosis (MTB)/ensaios de resistência à rifampicina (RIF). Das 111 amostras de linfonodos, 6 (5,4%) foram positivas para baciloscopia de AFB, 84 (75,6%) foram positivas para cultura de AFB, 80 (70,7%) foram positivas para o GeneXpert e 102 (91,8%) foram indicativas de tuberculose para estudos histopatológicos. A positividade da cultura do tubo indicador de crescimento de micobactérias (MGIT) foi 84 (75,6%), maior que a cultura sólida de Lowenstein-Jensen (LJ), 74 (66,6%). As culturas positivas foram submetidas a DST fenotípico. Dois casos eram multirresistentes (MDR) ao DST, enquanto três casos eram resistentes à rifampicina no GeneXpert. A sensibilidade do GeneXpert foi 62% contra o método convencional de cultura AFB. O fraco desempenho dos métodos convencionais de diagnóstico de linfadenite requer metodologia de diagnóstico precoce e precisa. O teste Xpert MTB/RIF pode ajudar no tratamento de casos de tuberculose multirresistente. No entanto, métodos rápidos e convencionais devem ser usados ​​para o isolamento completo do Mycobacterium tuberculosis.


Subject(s)
Humans , Tuberculosis, Lymph Node/diagnosis , Tuberculosis, Multidrug-Resistant , Mycobacterium tuberculosis , Rifampin/therapeutic use , Rifampin/pharmacology
8.
J. Health Biol. Sci. (Online) ; 10(1): 1-6, 01/jan./2022.
Article in Portuguese | LILACS | ID: biblio-1366907

ABSTRACT

Objetivos: estabelecer diagnóstico diferencial das demências em ambulatório de geriatria no Distrito Federal, calculando-se sua prevalência por meio de exame clínico e avaliação multifuncional. Método: estudo longitudinal, retrospectivo, com amostra de pessoas com 60 anos ou mais residentes no Distrito Federal-Brasil, com déficit cognitivo caracterizado por Transtorno Neurocognitivo (TNC) Maior (demência), cadastradas durante os anos de 2010 a 2018. A coleta de dados foi realizada em prontuários para selecionar e avaliar o perfil do idoso com diagnóstico de TNC seguida de avaliação geriátrica ampla e avaliação multifuncional. A análise de dados foi realizada com o cálculo da prevalência, estatística descritiva e índice V de Cramer. Resultados: 158 indivíduos conseguiram concluir todas as avalições. 52,5% possuem de 80 a 89 anos, 62,5% são mulheres e 62,7% caucasianos, 50,6% viúvos e 47,5% analfabetos. A prevalência inicial de Doença de Alzheimer (DA) foi de 45,6%, reduzindo-se para 35,4% após um período de acompanhamento e a demência vascular (DV) foi de 34,2%, inicialmente, e 45,6% ao final. Utilizou-se o Coeficiente V de Cramer, em que se encontrou uma relação fraca de fatores de risco com os diagnósticos das demências apresentados. Conclusão: DV foi a mais prevalente na área estudada. Entende-se ser a maior frequência de DA esteja relacionada à avaliação superficial uma vez que esse tipo de demência é mundialmente mais frequente


Objetivos: estabelecer diagnóstico diferencial das demências em ambulatório de geriatria no Distrito Federal, calculando-se sua prevalência por meio de exame clínico e avaliação multifuncional. Método: estudo longitudinal, retrospectivo, com amostra de pessoas com 60 anos ou mais residentes no Distrito Federal-Brasil, com déficit cognitivo caracterizado por Transtorno Neurocognitivo (TNC) Maior (demência), cadastradas durante os anos de 2010 a 2018. A coleta de dados foi realizada em prontuários para selecionar e avaliar o perfil do idoso com diagnóstico de TNC seguida de avaliação geriátrica ampla e avaliação multifuncional. A análise de dados foi realizada com o cálculo da prevalência, estatística descritiva e índice V de Cramer. Resultados: 158 indivíduos conseguiram concluir todas as avalições. 52,5% possuem de 80 a 89 anos, 62,5% são mulheres e 62,7% caucasianos, 50,6% viúvos e 47,5% analfabetos. A prevalência inicial de Doença de Alzheimer (DA) foi de 45,6%, reduzindo-se para 35,4% após um período de acompanhamento e a demência vascular (DV) foi de 34,2%, inicialmente, e 45,6% ao final. Utilizou-se o Coeficiente V de Cramer, em que se encontrou uma relação fraca de fatores de risco com os diagnósticos das demências apresentados. Conclusão: DV foi a mais prevalente na área estudada. Entende-se ser a maior frequência de DA esteja relacionada à avaliação superficial uma vez que esse tipo de demência é mundialmente mais frequente


Subject(s)
Humans , Male , Female , Middle Aged , Aged , Aged, 80 and over , Geriatric Assessment/methods , Dementia/diagnosis , Dementia/epidemiology , Brazil/epidemiology , Dementia, Vascular/diagnosis , Dementia, Vascular/epidemiology , Prevalence , Retrospective Studies , Risk Factors , Longitudinal Studies , Diagnosis, Differential , Ecological Studies , Alzheimer Disease/diagnosis , Alzheimer Disease/epidemiology , Mental Status and Dementia Tests
9.
Braz. j. oral sci ; 21: e227017, jan.-dez. 2022. ilus
Article in English | LILACS, BBO | ID: biblio-1393192

ABSTRACT

During COVID-19 pandemic, fulminant deep fungal infection started emerging in India, known as Mucormycosis. This type of mucormycosis was termed as COVID-19 associated mucormycosis (CAM). These patients had previous history of COVID-19 infection. Such cases were mainly reported in immunocompromised patients such as patients with poorly controlled diabetes and chronic renal diseases etc. Rhinomaxillary mucormycosis is an aggressive, fulminant, fatal deep fungal infection of head and neck region. Early diagnosis and prompt treatment can reduce the mortality and morbidity associated with the disease; hence we present case series of rhinomaxillary mucormycosis to create awareness amongst dental surgeons


Subject(s)
Humans , Male , Middle Aged , Aged , Signs and Symptoms , Comorbidity , Invasive Fungal Infections/diagnosis , COVID-19 , Mucorales , Mucormycosis/epidemiology , Mycoses/diagnosis
10.
Braz. j. oral sci ; 21: e226698, jan.-dez. 2022. ilus
Article in English | LILACS, BBO | ID: biblio-1393366

ABSTRACT

Aim: To evaluate the psychological impact of COVID-19 on undergraduate and graduate students of the Dental School of Ribeirão Preto, University of São Paulo. Methods: Three questionnaires were used: sociodemographic, WHO Abbreviated Quality of Life Inventory, and General Anxiety Disorder-7. Data were analyzed using Graph Pad Prism 7a (α = 5%). Mann-Whitney or Kruskal-Wallis and Dunn post-tests were used for statistical comparisons. The Spearman test was used as the correlation test. Results: 257 students responded to the online form that assessed their quality of life and anxiety level. On a scale from 1 to 100, with 100 being the best quality of life, the average obtained was 64.71 (± 13.36). In addition, 87.6% of the students rated their quality of life as good or very good. 74.7% reported good or very good health. The anxiety analysis resulted in an average of 10.04 (± 4.5), indicating moderate anxiety levels. There was an inversely proportional correlation between age and degree of anxiety (p = 0.008, r = -0.1628) and self-perceived learning and student commitment (r = 0.69). Conclusion: Despite the good quality of life and the students' good self-perception of health, they showed a moderate degree of anxiety during the social distancing caused by COVID-19, also demonstrating a decrease in interest and commitment during distance education


Subject(s)
Humans , Male , Female , Adult , Anxiety Disorders/diagnosis , Students, Dental , Coronavirus Infections , Patient Health Questionnaire , Physical Distancing , COVID-19 , Quality of Life , Self Concept
11.
Arq. ciências saúde UNIPAR ; 26(3): 569-579, set-dez. 2022.
Article in Portuguese | LILACS | ID: biblio-1399248

ABSTRACT

hanseníase no Brasil ainda apresenta como um problema de saúde pública. A posição epidemiológica da doença no país é considerada diversificada devido ao alto coeficiente e variação de prevalência nas diversas regiões do país. O objetivo desse estudo é conhecer o perfil epidemiológico da população acometida pela hanseníase na cidade de General Carneiro, no interior do Mato Grosso, durante os anos de 2006 e 2021. A coleta de dados foi realizada nos meses de julho e agosto do ano de 2021. Trata-se de uma pesquisa retrospectiva, documental do tipo descritiva, com abordagem quantitativa. No período em estudo notificou-se 50 casos, sendo 62% do sexo masculino, com faixa etária entre 48 a 69 anos de idade, de cor branca, com predominância da forma dimorfa. Os resultados demonstram que a cidade de General Carneiro, está com o número de casos de hanseníase na média do preconizado pela Organização Mundial de Saúde e também, inferior à média brasileira.


Leprosy in Brazil still presents as a public health problem. The epidemiological position of the disease in the country is considered diversified due to the high coefficient and variation in prevalence in different regions of the country. The aim of this study is to know the epidemiological profile of the population affected by leprosy in the city of General Carneiro, in the interior of Mato Grosso, during the years 2006 and 2021. Data collection was carried out in July and August of 2021 This is a retrospective, descriptive documentary research with a quantitative approach. During the study period, 50 cases were reported, 62% male, aged between 48 and 69 years old, white, with a predominance of the borderline form. The results show that the city of General Carneiro has the number of cases of leprosy in the average recommended by the World Health Organization and also below the Brazilian average.


La lepra en Brasil sigue siendo un problema de salud pública. La posición epidemiológica de la enfermedad en el país se considera diversificada debido al alto coeficiente y a la variación de la prevalencia en diferentes regiones del país. El objetivo de este estudio es conocer el perfil epidemiológico de la población afectada por la lepra en la ciudad de General Carneiro, en el interior de Mato Grosso, durante los años 2006 y 2021. La recogida de datos se realizó en julio y agosto del año 2021. Se trata de una investigación retrospectiva, documental y descriptiva, con un enfoque cuantitativo. En el período de estudio se notificaron 50 casos, siendo el 62% de sexo masculino, con una edad entre 48 y 69 años, de color blanco, con predominio de la forma dimorfa. Los resultados muestran que la ciudad de General Carneiro, está con el número de casos de lepra en la media recomendada por la Organización Mundial de la Salud y también por debajo de la media brasileña.


Subject(s)
Humans , Male , Female , Middle Aged , Aged , Health Profile , Leprosy/diagnosis , Leprosy/etiology , Leprosy/epidemiology , Patients/statistics & numerical data , World Health Organization/organization & administration , Population Surveillance , Public Health , Prevalence , Retrospective Studies , Population Studies in Public Health
12.
Arch. argent. pediatr ; 120(5): 317-324, oct. 2022. tab, ilus
Article in English, Spanish | LILACS, BINACIS | ID: biblio-1390881

ABSTRACT

Introducción. La apendicitis aguda (AA) en pacientes pediátricos requiere de un diagnóstico certero. El índice neutrófilos-linfocitos (INL) es un parámetro accesible que puede ser útil en su diagnóstico. Objetivo. Determinar la precisión del INL para diagnosticar AA en pacientes con dolor abdominal. Población y métodos. Estudio de prueba diagnóstica. Se incluyeron 520 pacientes atendidos en el servicio de urgencias pediátricas. Para cuantificar la precisión diagnóstica, se estimó la sensibilidad, la especificidad, los valores predictivos (VP) y los cocientes de probabilidad (CP). Se utilizó un modelo de regresión logística múltiple para evaluar el efecto de las potenciales variables confusoras en la relación entre el INL y la AA. Resultados. La prevalencia de AA fue del 49 %. Para un punto de corte de 5, la sensibilidad fue del 85,1 %, especificidad: 78,9 %, VP+: 79,5 % y VP-: 84,6 %. Sin embargo, basándose en los cocientes de probabilidad, el INL es una prueba poco potente para el diagnóstico de AA (CP+ = 4,03 y CP- = 0,18) y resultó una prueba sin utilidad diagnóstica en el caso de apendicitis complicada (CP+ = 1,57 y CP- = 0,55). Después del ajuste por edad, sexo, obesidad, tiempo de evolución y uso de analgésicos, el INL fue una variable explicativa de la presencia de AA (odds ratio = 23,53; IC95 % 13,14-42,15). Conclusiones. El INL no es lo suficientemente preciso aisladamente para confirmar o descartar la presencia de AA. No obstante, el INL puede emplearse junto con otras pruebas para seleccionar a los pacientes en los cuales es necesario un mayor estudio.


Introduction. Acute appendicitis (AA) in pediatric patients requires an accurate diagnosis. The neutrophil-to-lymphocyte ratio (NLR) is an accessible parameter useful for its diagnosis. Objective. To determine NLR accuracy to diagnose AA in patients with abdominal pain. Population and methods. Diagnostic test study. A total of 520 patients seen at the Pediatric Emergency Department were included. Diagnostic accuracy was estimated based on sensitivity, specificity, predictive values, and likelihood ratios. A multiple logistic regression model was used to assess the effect of potentially confounding variables in the relationship between NLR and AA. Results. The prevalence of AA was 49%. For a cutoff point of 5, sensitivity was 85.1%, specificity: 78.9%; positive predictive value: 79.5%; and negative predictive value: 84.6%. However, based on likelihood ratios, the NLR is not powerful enough to diagnose AA (positive likelihood ratio = 4.03 and negative likelihood ratio = 0.18) and did not exhibit diagnostic usefulness in complicated appendicitis (positive likelihood ratio = 1.57 and negative likelihood ratio = 0.55). Following adjustment for age, sex, obesity, time since symptom onset, and analgesic use, the NLR was an explanatory variable for the presence of AA (odds ratio = 23.53; 95% confidence interval: 13.14­42.15). Conclusions. The NLR alone is not sufficiently accurate to confirm or rule out the presence of AA. However, the NLR can be used together with other tests to select patients in whom further study is necessary.


Subject(s)
Humans , Child, Preschool , Child , Adolescent , Appendicitis/diagnosis , Appendicitis/epidemiology , Lymphocytes , Acute Disease , Cross-Sectional Studies , Neutrophils
13.
Arch. argent. pediatr ; 120(5): 325-331, oct. 2022. tab, ilus
Article in English, Spanish | LILACS, BINACIS | ID: biblio-1390890

ABSTRACT

Introducción. Los inmunoensayos de detección rápida de antígenos (TRA) del SARS-CoV-2, son considerados adecuados para el diagnóstico en el punto de atención. El objetivo fue conocer la concordancia entre la reacción en cadena de la polimerasa en tiempo real con transcriptasa inversa (RT-qPCR, por su sigla en inglés) y los TRA en población pediátrica. Población y métodos. Se reclutaron todos los pacientes entre 1 mes y 17 años 11 meses de edad atendidos en la Unidad Febril de Urgencia de un hospital pediátrico entre el 11 de junio y el 3 de octubre de 2021. Se utilizó el TRA Panbio COVID-19 Ag® (Abbott Diagnostic) y, comométodo de referencia, la RT-qPCR (según el protocolo de los Centros para el Control y la Prevención de Enfermedades). Resultados. Se incluyeron 6491 pacientes. La prevalencia de COVID-19 fue del 2,8 %. El92,1 % de los sujetos presentaron síntomas. La sensibilidad, la especificidad y el índice kappa de concordancia para el TRA fueron del 71,0 %, 99,9 % y 0,813, respectivamente. El índice kappa yla sensibilidad del TRA fueron significativamentemayores en el grupo de 13 a 17 años (0,89 y 82,4 %,respectivamente) cuando se los comparó con los grupos de 0 a 5 y de 6 a 12 años. Esto podría deberse a la menor carga viral observada en los pacientes menores de 12 años. Conclusión. Si bien los TRA permiten acortar el tiempo de obtención de los resultados y mejorar la estrategia de aislamiento de pacientes con COVID-19, la sensibilidad en niños menores de 12 años o asintomáticos no se encontraría dentro de los rangos recomendados, sobre todo enperíodos de baja prevalencia de la enfermedad.


Introduction. Rapid antigen tests (RAgTs) for SARS-CoV-2 are considered adequate for diagnosis at the point of care. Our objective was to establish the agreement between reverse transcription-quantitative polymerase chain reaction (RT-qPCR) and RAgTs in the pediatric population. Population and methods. All patients aged 1 month to 17 years and 11 months seen at the Emergency Fever Unit of a children's hospital between 6-11-2021 and 10-3-2021 were recruited. The Panbio COVID-19 Ag® test (Abbott Diagnostic) was compared to the reference method RT-qPCR (as per the protocol suggested by the United States Centers for Disease Control and Prevention). Results. A total of 6491 patients were included. The prevalence of COVID-19 was 2.8%. Symptoms were observed in 92.1%. Sensitivity, specificity, and the kappa index of agreement for the RAgT were 71.0%, 99.9%, and 0.813, respectively. The kappa index and the RAgT sensitivity were significantly higher in the group aged 13­17 years (0.89 and 82.4%, respectively) compared to the groups aged 0­5 and 6­12 years. This may be due to the lower viral load observed in patients younger than 12 years. Conclusion. Although RAgTs shorten the time to result and improve the isolation strategy for COVID-19 patients, their sensitivity in children younger than 12 years or asymptomatic children is not within the recommended ranges, especially during periods of low disease prevalence.


Subject(s)
Humans , Infant , Child, Preschool , Child , Adolescent , COVID-19/diagnosis , Sensitivity and Specificity , Emergency Service, Hospital , COVID-19 Testing , SARS-CoV-2 , Hospitals, Pediatric
14.
Arch. argent. pediatr ; 120(5): 332-335, oct. 2022. tab, ilus
Article in English, Spanish | LILACS, BINACIS | ID: biblio-1391165

ABSTRACT

Introducción. El objetivo del estudio fue analizar el índice de mortalidad pediátrica 3 (PIM 3) y la evaluación de falla orgánica secuencial pediátrica (pSOFA) para predicción de muerte. Métodos. Estudio observacional prospectivo; se incluyeron pacientes de 1 mes a 17,9 años. La precisión se evaluó con el área bajo la curva (AUC) y se estimó la tasa de mortalidad estandarizada. Resultados. Se estudiaron 244 ingresos; la mediana de edad fue 60 meses. Los diagnósticos principales fueron neoplasias sólidas o hematológicas (26,5 %). La mortalidad por ingresos fue del 18 % (44/244). Para PIM 3 el AUC fue de 0,77 y para pSOFA, de 0,81; ambas escalas mostraron adecuada calibración (p > 0,05). La tasa de mortalidad estandarizada fue de 1,91. Conclusiones. Identificamos que las escalas de evaluación de mortalidad PIM 3 y pSOFA muestran capacidad de discriminación aceptable. En pacientes con neoplasias sólidas o hematológicas, PIM 3 no mostró adecuada calibración.


Introduction. The study objective was to analyze the Pediatric Index of Mortality 3 (PIM 3) and the pediatric Sequential Organ Failure Assessment (pSOFA) for the prediction of mortality. Methods. Observational, prospective study; patients aged 1 month to 17.9 years were included. Assessment of area under the curve (AUC) accuracy and estimation of standardized mortality rate. Results. A total of 244 admissions were studied: median age was 60 months. The main diagnoses were solid or hematologic neoplasms (26.5%). The mortality by admission was 18% (44/244). The AUC was 0.77 for PIM 3 and 0.81 for pSOFA; both scales showed an adequate calibration (p > 0.05). The standardized mortality rate was 1.91. Conclusions. We identified that the PIM 3 and pSOFA have an acceptable discrimination power. The calibration of the PIM 3 was not adequate in patients with solid or hematologic neoplasms.


Subject(s)
Humans , Infant , Child, Preschool , Child , Adolescent , Intensive Care Units, Pediatric , Hematologic Neoplasms/diagnosis , Severity of Illness Index , Prospective Studies , Hospital Mortality , Organ Dysfunction Scores , Mexico
15.
Arch. argent. pediatr ; 120(5): 336-339, oct. 2022. tab
Article in English, Spanish | LILACS, BINACIS | ID: biblio-1391180

ABSTRACT

Frenar la propagación de la enfermedad por el coronavirus 2019 (COVID-19, por su sigla en inglés) es fundamental, y se puede realizar mediante técnicas de detección rápidas y efectivas. El objetivo fue comparar la precisión diagnóstica de un test rápido de antígeno (TRAg,) con la reacción en cadena de polimerasa con retrotranscripción (RT-qPCR, por su sigla en inglés) y describir los umbrales de amplificación (Ct, por su sigla en inglés). Participaron niños de 1 mes a 11 años que tuvieran menos de 7 días de síntomas, sin resultado detectable en los últimos 90 días, e inmunocompetentes. Se incluyeron 1855 pacientes con una prevalencia de COVID-19 del 4,7 %. La sensibilidad global del TRAg fue del 60,2 % y su especificidad, del 99,8 %; en niños mayores de 5 años los valores fueron de 69,8 % y 99,8 %, respectivamente. Los valores de Ct de las muestras discordantes fueron más altos. En conclusión, la precisión diagnóstica muestra que TRAg tiene una especificidad similar a la RT-qPCR, pero una sensibilidad considerablemente menor, sobre todo en niños de menos de 5 años.


Stopping the spread of coronavirus disease 2019 (COVID-19) is critical and can be achieved through rapid and effective detection techniques. Our objective was to compare the diagnostic accuracy of rapid antigen tests (RAgT) and reverse transcription quantitative polymerase chain reaction (RT-qPCR) and to describe amplification cycle thresholds (Cts). Participants were children aged 1 month to 11 years with symptoms for less than 7 days, who did not have a detectable result in the past 90 days, and were immunocompetent. A total of 1855 patients were included; the prevalence of COVID-19 was 4.7%. For the RAgT, overall sensitivity was 60.2% and specificity, 99.8%; in children older than 5 years, values were 69.8% and 99.8%, respectively. Ct values for discordant samples were higher. To conclude, the diagnostic accuracy indicated that the specificity of RAgT is similar to that of RT-qPCR, but its sensitivity is notably lower,especially in children younger than 5 years.


Subject(s)
Humans , Infant , Child, Preschool , Child , SARS-CoV-2 , COVID-19/diagnosis , Cross-Sectional Studies , Sensitivity and Specificity , Clinical Laboratory Techniques/methods , Real-Time Polymerase Chain Reaction , COVID-19 Testing
16.
Arch. argent. pediatr ; 120(5): 346-353, oct. 2022. tab, ilus
Article in English, Spanish | LILACS, BINACIS | ID: biblio-1391193

ABSTRACT

Los trastornos funcionales gastrointestinales (TFGI) se caracterizan por síntomas atribuibles al tracto gastrointestinal que no pueden ser explicados por anormalidades estructurales ni bioquímicas. Durante el primer año de vida, pueden generar mucho malestar en el lactante y preocupación en sus padres. Su diagnóstico se basa en criterios clínicos que expertos han determinado y en una historia clínica y un examen físico completo que descartan causas orgánicas. El objetivo de esta actualización es presentar estrategias para el manejo de los TFGI más frecuentes durante el primer año de vida: cólicos, regurgitaciones, disquecia y estreñimiento, bajo la visión de los nuevos conocimientos fisiopatológicos, que eviten los estudios y medicaciones innecesarias.


Functional gastrointestinal disorders (FGIDs) are characterized by symptoms attributable to the gastrointestinal tract that cannot be explained by the presence of structural or biochemical abnormalities. During the first year of life, FGIDs can cause great discomfort in infants and concern in their parents. The diagnosis of FGIDs is based on clinical criteria determined by experts and on a comprehensive case-taking process and physical exam to rule out organic causes. The objective of this update is to describe strategies for the management of the most frequent FGIDs during the first year of life: colics, regurgitations, dyschezia, and constipation, in light of new pathophysiological insights, to avoid unnecessary tests and medications.


Subject(s)
Humans , Infant, Newborn , Infant , Colic , Gastrointestinal Diseases/diagnosis , Gastrointestinal Diseases/etiology , Gastrointestinal Diseases/therapy , Vomiting , Prevalence , Constipation/diagnosis , Constipation/drug therapy
17.
Arch. argent. pediatr ; 120(5): S69-S87, oct. 2022. tab, ilus
Article in Spanish | LILACS, BINACIS | ID: biblio-1395657

ABSTRACT

En 2015 se publicaron en Archivos Argentinos de Pediatría las "Nuevas recomendaciones frente a las actuales controversias en infección urinaria". Dado que en estos años surgieron evidencias con respecto al diagnóstico, la forma de estudio y el tratamiento de la infección urinaria, el Comité de Nefrología Pediátrica de la Sociedad Argentina de Pediatría decidió actualizar dichas recomendaciones. El objetivo principal es brindar al pediatra las herramientas para realizar un correcto diagnóstico, definir el tratamiento más adecuado, seleccionar a los pacientes que se beneficiarán con la profilaxis antibiótica y decidir cuáles serán los estudios de imágenes necesarios, para evitar intervenciones costosas e invasivas. En estas guías se incluyen, además, los lineamientos para el manejo de niños con infecciones urinarias asociadas a situaciones especiales como la disfunción vesicointestinal, el recién nacido, los portadores de vejiga neurogénica, los receptores de trasplante renal y las infecciones urinarias micóticas.


In 2015, the "New recommendations regarding the current controversies in urinary infection" were published in the Archivos Argentinos de Pediatría. Given the fact that in these past years, new evidence has emerged regarding the diagnosis and treatment of urinary infection, the Pediatric Nephrology Committee of Sociedad Argentina de Pediatría has decided to update these recommendations. The main goal is to provide the pediatrician with the necessary tools to make a correct diagnosis, define the most appropriate treatment, select the patients who will benefit from antibiotic prophylaxis, and decide which imaging studies will be necessary, avoiding costly and invasive interventions. These guidelines also include the management of children with urinary tract infections associated with special situations such as: bladder bowel dysfunction, the newborn, children with neurogenic bladder, kidney transplant patients and fungal urinary tract infections.


Subject(s)
Humans , Infant, Newborn , Infant , Child, Preschool , Child , Urinary Tract Infections/complications , Urinary Tract Infections/diagnosis , Urinary Tract Infections/therapy , Argentina
18.
Arch. argent. pediatr ; 120(5): e207-e209, oct. 2022.
Article in Spanish | LILACS, BINACIS | ID: biblio-1395677

ABSTRACT

El síndrome de deficiencia del transportador de glucosa cerebral de tipo 1 es una enfermedad neurometabólica rara en pediatría. Existe un fenotípico clásico (85 %) y otro no clásico (15 %). Ambos fenotipos se asocian con hipoglucorraquia. Se identifican múltiples mutaciones en el gen SLC2A1. El tratamiento es la terapia cetogénica. Se presenta un varón que comenzó a los cuatro años con hemicorea y hemidistonía medicado con anticonvulsivantes sin respuesta clínica, por lo que consultó nuevamente a los seis años. Con sospecha diagnóstica de síndrome de déficit de glut-1 atípico se realizó punción lumbar; el diagnóstico se confirmó por la presencia de hipoglucorraquia. Inmediatamente después de iniciar la dieta cetogénica, el paciente no presentó más movimientos anormales durante los siguientes 8 años hasta la actualidad, ya cumplidos los 14 años.


Glucose transporter type 1 deficiency syndrome is a rare pediatric neurometabolic disorder. There are two phenotypes: the classical phenotype (85%) and the non-classic (15%). Both phenotypes are associated with hypoglycorrhachia. Multiple mutations are described in the SCL2A1 gene. The treatment is the ketogenic diet. We report a case of a four-year-old male patient who started with hemichorea and hemidystonia and was medicated with drugs for seizures without clinical response, that's why his parents made another pediatric consultation at his six-year-old. With the suggestive clinical findings of glucose transporter type 1 deficiency syndrome the lumbar puncture was made confirming the diagnosis. Immediately after starting the ketogenic diet the patient stopped making abnormal movements up to the moment when he is fourteen years old, eight years after.


Subject(s)
Humans , Male , Adolescent , Carbohydrate Metabolism, Inborn Errors/complications , Carbohydrate Metabolism, Inborn Errors/diagnosis , Carbohydrate Metabolism, Inborn Errors/genetics , Diet, Ketogenic , Monosaccharide Transport Proteins/deficiency , Monosaccharide Transport Proteins/genetics , Glucose Transporter Type 1
19.
Arch. argent. pediatr ; 120(5): e210-e212, oct. 2022. ilus
Article in Spanish | LILACS, BINACIS | ID: biblio-1395751

ABSTRACT

El sarcoma de Ewing es una neoplasia de origen más frecuentemente óseo; otras localizaciones son excepcionales. En el caso de las presentaciones primarias intracraneales, resulta imprescindible descartar que se trate de un secundarismo así como también de otros tumores neuroectodérmicos que puedan requerir distintos abordajes diagnósticos y terapéuticos. Se presenta a una paciente de 14 años que consultó por ptosis palpebral de ojo izquierdo asociado a diplopía de 2 meses de evolución; los estudios por imágenes mostraron una lesión tumoral extraaxial situada a nivel de la cisterna interpeduncular. Se realizó la exéresis completa, con diagnóstico anatomopatológico de sarcoma de Ewing de ubicación mesencefálica


Ewing's sarcoma is a malignant neoplasm mainly occurring in the bone, with other locations being exceptional. In the case of primary intracranial presentations, it is essential to rule out metastatic lesions as well as other neuroectodermal tumors that may require different diagnostic and therapeutic approaches. We present a 14-year-old patient who consulted for upper eyelid ptosis of left eye associated with a 2-month history of diplopia, with imaging evidence of extra-axial tumor lesion, located at the level of the interpeduncular cistern. Complete excision was performed, with a pathological diagnosis of Ewing's sarcoma of midbrain location.


Subject(s)
Humans , Female , Adolescent , Sarcoma, Ewing/surgery , Sarcoma, Ewing/diagnosis , Bone Neoplasms/pathology , Bone Neoplasms/therapy , Mesencephalon/pathology
20.
Arch. argent. pediatr ; 120(5): e213-e217, oct. 2022. tab
Article in Spanish | LILACS, BINACIS | ID: biblio-1395755

ABSTRACT

La neutropenia congénita grave (NCG) es una entidad heterogénea cuya característica común es un recuento absoluto de neutrófilos inferior a 0,5 x 10 9/l. Presenta gran heterogeneidad genética, las mutaciones más frecuentes son las del gen de la elastasa 2 (ELA 2). El tratamiento de primera elección es la administración de factor estimulador de colonias de granulocitos. Los pacientes con NCG presentan infecciones graves en etapas tempranas de la vida. Se presenta una paciente con NCG asociada a fenotipo peculiar con facies triangular, retromicrognatia, patrón venoso prominente en miembros inferiores, comunicación interauricular y mal progreso ponderal, en quien se diagnosticó déficit de la enzima glucosa 6 fosfato deshidrogenasa, subunidad catalítica 3 (G6PC3). A pesar de lo infrecuente de esta mutación como causa de NCG (2 %), su conocimiento cobra importancia porque la coexistencia del fenotipo característico con una NCG orienta en la solicitud del estudio genético que permite arribar al diagnóstico.


Severe congenital neutropenia (SCN) is a heterogeneous disease whose more common feature is an absolute neutrophil count less than 0.5 x 10 9/l. It presents great genetic heterogeneity. Autosomal dominant inherited mutations of the elastase 2 gene (ELA2) represent the most common etiology. The first choice treatment is the administration of granulocyte colony stimulating factor. Patients with SCN develop severe infections early in life. We present a patient who associated SCN to a peculiar phenotype, characterized by triangular facies, retromicrognathia, prominent venous pattern in the lower limbs, atrial septal defect and poor weight progress, in whom a deficiency of the enzyme glucose 6 phosphate dehydrogenase, a catalytic subunit 3 (G6PC3), was diagnosed. Despite the infrequency of this mutation as the origin of SCN (2%), its knowledge becomes important because the coexistence of the characteristic phenotype and SCN guides the request for the genetic study that allows reaching the diagnosis.


Subject(s)
Humans , Female , Infant , Glucosephosphate Dehydrogenase/genetics , Neutropenia/congenital , Neutropenia/diagnosis , Neutropenia/genetics , Granulocyte Colony-Stimulating Factor/genetics , Congenital Bone Marrow Failure Syndromes/diagnosis , Mutation
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