Cross-cultural adaptation and validation of the universal Portuguese-version of the Pediatric Functional Assessment of Chronic Illness Therapy - Fatigue (pedsFACIT-F) / Adaptação transcultural e validação da versão portuguesa universal da Escala Avaliação Funcional Pediátrica de Terapia de Doença Crônica - Fadiga (pedsFACIT-F)

Abstract Objective: To cross-culturally adapt and validate the universal Portuguese version of the Pediatric Functional Assessment of Chronic Illness Therapy - Fatigue (pedsFACIT-F). Method: The universal Portuguese version of the pedsFACIT-F was cross-culturally adapted and validated in 323 children and adolescents aged 8-18 years, 173 healthy individuals, and 150 with chronic diseases (cancer, juvenile idiopathic arthritis, and diabetes). Reliability (internal consistency and test-retest reliability) was assessed. Item response theory model assumptions were evaluated using confirmatory and exploratory factor analyses. Items were calibrated using a graded response model. Differential item functioning was assessed regarding age, gender, and clinical condition (healthy vs. chronic diseases). Results: No major cultural adaptations were needed. Internal consistency (Cronbach's alpha = 0.84) and test-retest reliability (intraclass correlation coefficient = 0.92) were good. CFA (CFI = 0.92, TLI = 0.90, RMSEA = 0.097) and CFE analysis confirmed sufficient unidimensionality. The data also fit the GRM and demonstrated good coverage of the fatigue construct (threshold parameters range: -1.42 to 4.56). No items demonstrated significant differential item functioning. Conclusion: The universal Portuguese version of the pedsFACIT-F provides a reliable, precise, and valid measure after being assessed by robust psychometric properties. Stability of the measurement properties of the pedsFACIT-F scale allows its use to assess fatigue in clinical research in Portuguese-speaking children and adolescents.

Resumo Objetivo: Adaptar transculturalmente e validar a versão portuguesa universal da escala Avaliação Funcional Pediátrica de Terapia de Doença Crônica - Fadiga (pedsFACIT-F). Método: A versão traduzida para o português universal e adaptada transculturalmente da escala pedsFACIT-F foi validada em 323 crianças (entre 8 e 18 anos), 173 saudáveis e 150 com doenças crônicas (câncer, artrite idiopática juvenil e diabetes). A confiabilidade foi avaliada pela consistência interna e confiabilidade teste-reteste. Os pressupostos do modelo da teoria da resposta ao item foram avaliados por meio da análise fatorial confirmatória e exploratória. Os itens foram calibrados segundo modelo de resposta gradual. O funcionamento diferencial do item foi examinado com respeito à idade, ao gênero e à condição de saúde (saudáveis versus doenças crônicas). Resultados: A adaptação cultural não apresentou dificuldades substantivas. A confiabilidade da consistência interna (alfa-Cronbach = 0,84) e do teste-reteste (correlação intraclasse = 0,92) foram adequadas. As análises da AFC (CFI = 0,92, TLI = 0,90, RMSEA = 0,097) e AFE confirmaram suficiente unidimensionalidade. O estudo de calibração demostrou bom ajuste do MRG e boa cobertura do construto fadiga (variação dos limiares das categorias de resposta: -1,42 a 4,56). Não foi verificada presença de funcionamento diferencial do item significante. Conclusão: A versão portuguesa universal da escala pedsFACIT-F é uma medida confiável, precisa e válida, verificada após análises de propriedades psicométricas robustas. A estabilidade das propriedades de medida da escala permite seu uso para avaliação de fadiga em estudos clínicos com crianças e adolescentes em países lusófonos.

HLA-G Ins/Del polymorphism and +3142C/G SNP are not related to neuromyelitis optica spectrum disorder (NMOSD) development, disability status or anti-aquaporin 4 presence in Brazilian patients.

We analyzed the association of polymorphisms from the 3' untranslated region of the HLA-G gene in 70 neuromyelitis optica spectrum disorder (NMOSD) patients and 162 healthy controls. No associations were found between the polymorphisms in NMOSD when compared to healthy controls, serology of the anti-AQP4 NMOSD biomarker and Expanded Disability Status Scale (EDSS). In conclusion, the 3' untranslated region 14 bp Ins/Del and +3142C/G polymorphisms seem not to be associated with NMOSD susceptibility, autoantibody production, nor a neurological deficit in patients.

Cross-cultural adaptation and validation of the universal Portuguese-version of the Pediatric Functional Assessment of Chronic Illness Therapy - Fatigue (pedsFACIT-F).

OBJECTIVE: To cross-culturally adapt and validate the universal Portuguese version of the Pediatric Functional Assessment of Chronic Illness Therapy - Fatigue (pedsFACIT-F). METHOD: The universal Portuguese version of the pedsFACIT-F was cross-culturally adapted and validated in 323 children and adolescents aged 8-18 years, 173 healthy individuals, and 150 with chronic diseases (cancer, juvenile idiopathic arthritis, and diabetes). Reliability (internal consistency and test-retest reliability) was assessed. Item response theory model assumptions were evaluated using confirmatory and exploratory factor analyses. Items were calibrated using a graded response model. Differential item functioning was assessed regarding age, gender, and clinical condition (healthy vs. chronic diseases). RESULTS: No major cultural adaptations were needed. Internal consistency (Cronbach's alpha=0.84) and test-retest reliability (intraclass correlation coefficient=0.92) were good. CFA (CFI=0.92, TLI=0.90, RMSEA=0.097) and CFE analysis confirmed sufficient unidimensionality. The data also fit the GRM and demonstrated good coverage of the fatigue construct (threshold parameters range: -1.42 to 4.56). No items demonstrated significant differential item functioning. CONCLUSION: The universal Portuguese version of the pedsFACIT-F provides a reliable, precise, and valid measure after being assessed by robust psychometric properties. Stability of the measurement properties of the pedsFACIT-F scale allows its use to assess fatigue in clinical research in Portuguese-speaking children and adolescents.

Estresse da equipe de enfermagem no serviço de pronto-atendimento de um hospital público / Nursing team stress at the ready-service of a public hospital

Objetivo: identificar os fatores estressores da equipe de enfermagem do pronto atendimento de um hospital público de médio porte. Metodologia: estudo descritivo e transversal quantitativo, realizado em um hospital público no município de Picos-Piauí, no qual participaram da pesquisa oito enfermeiros e 19 técnicos de enfermagem que atuam no serviço de pronto atendimento adulto. Os dados obtidos foram organizados no Software Microsoft Office Excel 2010 e logo após tabulados e analisados pelo mesmo programa. Resultados: a amostra foi constituída por 15 (55,5%) participantes do sexo feminino, com faixa etária mais prevalente entre 20-30 anos (37,0%), atuando no setor da urgência a mais de três anos (59,2%). Em relação às horas trabalhadas por dia, 26 (96,3%) relataram que trabalham de 12 a 24 horas por dia, somado a isso 16 (48,0%) afirmaram ter outro vínculo empregatício. A grande demanda do setor é o fator que mais causa estresse no ambiente de trabalho, segundo os entrevistados, seguido pelo ambiente físico e a sobrecarga do trabalho. Foram reportados como sintomas de estresse: cansaço, dor lombar e cefaleia. Conclusão: os fatores estressores identificados estão relacionados à dinâmica e processo de trabalho do enfermeiro, bem como o ambiente físico onde as atividades ocorrem.

Objective: to identify the stressors of the nursing team that works in the prompt care service of a mediumsized public hospital. Methodology: this is a descriptive and cross-sectional quantitative study, carried out in a public hospital in city of Picos-Piauí, in which eight nurses and 19 nursing technicians participated of the study. The data obtained was organized by the Microsoft Office Excel 2010 System and soon after tabulated and analyzed by the same program. The present research obeyed all ethical norms involving human beings. Results: 15 (55.5%) were female, with a more prevalent age range of 20-30 years (37.0%), working in the emergency sector for more than three years (59.2%). Regarding hours worked per day, 26 (96.3%) reported working 12 to 24 hours a day, and approximately 16 (48.0%) reported having another employment relationship. The great demand of the sector is the factor that causes more stress in the work environment, according to the interviewees, followed by the physical environment and the work overload. They were reported as stress symptoms: tiredness, low back pain and headache. Conclusion: the stressors identified are related to the dynamics and work process of the nurse, as well as the physical environment where the activities occur.

Levels of MMP-9 in patients with intracranial aneurysm: Relation with risk factors, size and clinical presentation.

BACKGROUND: Intracranial aneurysms are arterial anomalies affecting 2% to 3% of the general population in the world and these ruptures are associated with a high mortality. Some risk factors, such as age, gender, smoking, alcohol, hypertension and familial history are associated with the number of aneurysms and their size. In addition, inflammatory processes within the blood vessels of the brain can activate matrix metalloproteinase-9 (MMP-9), which degrades various components of the extracellular matrix, such as elastin. Thereby, this work has aimed at evaluating the relationship between plasma MMP-9 levels and the risk factors that are associated with intracranial aneurysm, as well as investigating the aneurysm statuses (ruptured and unruptured) and comparing them with the control volunteers. METHODS: Between August 2014 to June 2016, blood samples were collected from 282 patients (204 ruptured and 78 unruptured saccular intracranial aneurysms) and 286 control volunteers. The MMP-9 plasma levels were measured by ELISA. Statistical analyzes were performed with SPSS software when using parametric or nonparametric tests, after the normality tests. RESULTS: Higher levels of MMP-9 were found in the aneurysm groups as a whole and when they were stratified by rupture status, then compared with the control group (p < 0.0001). When stratifying them by diameter, those smaller than 7 mm presented high levels of MMP-9 (p < 0.0001), especially in the ruptured ones. As for risk factors, hypertension and smoking were the most important. However, hypertension was mostly associated with the ruptured aneurysms (p < 0.0001). CONCLUSIONS: High levels of MMP-9 were found in smaller ruptured and unruptured intracranial aneurysms (<7 mm) with strongest statistical associations than other sizes, especially when associated with smoking and hypertension.

Dual molecular diagnosis contributes to atypical Prader-Willi phenotype in monozygotic twins.

We describe monozygotic twin girls with genetic variation at two separate loci resulting in a blended phenotype of Prader-Willi syndrome and Pitt-Hopkins syndrome. These girls were diagnosed in early infancy with Prader-Willi syndrome, but developed an atypical phenotype, with apparent intellectual deficiency and lack of obesity. Array-comparative genomic hybridization confirmed a de novo paternal deletion of the 15q11.2q13 region and exome sequencing identified a second mutational event in both girls, which was a novel variant c.145+1G>A affecting a TCF4 canonical splicing site inherited from the mosaic mother. RNA studies showed that the variant abolished the donor splicing site, which was accompanied by activation of an alternative non-canonical splicing-site which then predicts a premature stop codon in the following exon. Clinical re-evaluation of the twins indicated that both variants are likely contributing to the more severe phenotypic presentation. Our data show that atypical clinical presentations may actually be the expression of blended clinical phenotypes arising from independent pathogenic events at two loci.

Comportamento sexual entre acadêmicos de uma universidade pública / Sexual behavior among students of a public university

Analisar o comportamento sexual entre acadêmicos segundo o sexo. Métodos: estudo analítico com154 acadêmicos, realizado por meio de um formulário contendo questões socioeconômicas e sobre sexualidade. Resultados: a maioria era do sexo feminino, com idades entre 18 e 30 anos, e vida sexual iniciada antes dos 18 anos de idade. participantes referiram encontrar informações necessárias sobre sexualidade principalmente em conversas com os amigos e na internet, e consideraram possuir conhecimento satisfatório. Conclusão: os estudantes apresentam vulnerabilidades, como início prematuro das práticas sexuais e barreira no diálogo com familiares.

Objective: to analyze the sexual behavior among students and their relation to sex. Methods: an analytical study with 154 students accomplished through a form containing socioeconomic and sexuality issues. Results: most of the participants were female, aged between 18 and 30 years old, and initiated sexual life before 18 years old. Participants reported finding necessary information about sexuality especially in conversations with friends and on the internet and found to have satisfactory knowledge. Conclusion: the student’s present vulnerabilities, such as early onset of sexual practices and barrier with the family dialogue.

Antihypertensive therapy in pre-eclampsia: effects of plasma from nonresponsive patients on endothelial gene expression.

AIM: Over 40% of patients with pre-eclampsia are nonresponsive to antihypertensive therapy, but the underlying mechanisms are unknown. We examined the effects of plasma from nonresponsive and responsive patients on endothelial gene expression. PATIENTS & METHODS: PCR array was performed in human umbilical vein endothelial cells (HUVEC) incubated with plasma from nonresponsive (n = 4) and responsive (n = 4) patients. Gene networks and interactions with antihypertensive drugs used in pre-eclampsia were identified by Ingenuity Pathway Analysis. RESULTS: Nifedipine and hydralazine act by upregulate or downregulate genes found to be downregulated or upregulated in HUVEC incubated with plasma from nonresponsive patients. CONCLUSION: Our novel findings suggest that plasma from nonresponsive and responsive patients evoke different responses in HUVEC, and might advance the pharmacogenomics research in pre-eclampsia.

Plasma matrix metalloproteinase-9 levels, MMP-9 gene haplotypes, and cardiovascular risk in obese subjects.

Plasma matrix metalloproteinase (MMP)-9 is a predictor of cardiovascular mortality, and MMP-9 polymorphisms affect plasma MMP-9 levels. However, no study examined whether MMP-9 haplotypes affect MMP-9 levels in obese adults. We examined whether MMP-9 polymorphisms and haplotypes are associated with obesity, and whether they affect MMP-9 levels in obese subjects. We examined the plasma levels of MMP-9 and tissue inhibitor of metalloproteinase (TIMP)-1 in 105 subjects with normal weight (controls), 100 obese subjects, and 156 obese subjects with ≥3 metabolic risk factors (MRFs). We determined genotypes for three polymorphisms: C-1562T (rs3918242), Q279R (A>G, rs17576), and R668Q (G>A, rs17577). MMP-9 levels and activity (MMP-9/TIMP-1 ratio) were higher in obese subjects than in controls (P < 0.05). However, MMP-9 levels were higher in obese subjects with ≥3 MRFs than in obese subjects (P < 0.05). Obese subjects with ≥3 MRFs carrying the GA+AA genotypes for R668Q (G>A) polymorphism had higher MMP-9 levels than subjects carrying the AA genotype (P < 0.05). The "T, G, A" haplotype was more common in both groups of obese subjects than in controls (OR 3.95 and 4.39, respectively; P < 0.01). Notably, obese subjects with ≥3 MRFs carrying the "T, G, A" haplotype had higher MMP-9 levels than subjects carrying the "C, A, G" reference haplotype (P < 0.05). The "T, G, A" haplotype was associated with an increased risk of obesity and affected MMP-9 levels in obese subjects with ≥3 MRFs. Our findings suggest that plasma MMP-9 levels and MMP-9 haplotypes may help to discriminate obese subjects at an increased cardiovascular risk.

Plasma levels of increased miR-195-5p correlates with the sFLT-1 levels in preeclampsia.

Although the role of soluble fms-like tyrosine kinase 1 (sFLT-1) in preeclampsia is well-established, the mechanism related to its synthesis remains poorly understood. We evaluated the association among the circulating microRNAs (miRs) and sFLT-1 levels in preeclampsia pregnant women. For this purpose, we measured the plasma sFLT-1 levels in 24 preeclampsia women and selected from these, three subjects with the lowest and three with the highest levels of sFLT-1 in order to screen for potential miRs associated with plasmatic sFLT-1 concentrations using a polymerase chain reaction-array (PCR-array) methodology. From screening results, we found three statistically different expressed miRs with fold change (FC-high/low levels) ≥3.0: miR-195-5p (FC = 5.2 increase in group with high sFLT-1 levels), miR-16-5p (FC = 3.2; increase in group with high sFLT-1 levels), and miR-375 (FC = -3.0; decrease in group with high sFLT-1 levels) which were later validated in all samples (n = 24). To correlate these miRs and plasma sFLT-1 levels, we used two extremes of analysis. In one part, we compared 12 preeclampsia women with the lowest sFLT-1 levels (L-50% group) to 12 with the highest levels (50% H group); and in the second analysis, 6 preeclampsia women (L-25%) from the L group to 6 preeclampsia women from the H group (H-25%). Our results showed increased expression of miR-195-5p in the H group, considering both the analyses with 50%, FC = 2.1 and 25%, FC = 4.2. Regarding other miRs, lack of correlation was found in both analyses (50% and 25%). In conclusion, our data demonstrate an association of higher levels of sFLT-1 with increased expression of miR-195-5p in preeclampsia pregnant women.

Simvastatin does not reduce chemokine production in obesity without comorbidities.

Obesity is considered a subchronic inflammatory disease with high risk of comorbidity development. Obesity-associated inflammation originates from adipose tissue itself, which secretes a panel of inflammatory chemokines and cytokines. Therefore, we enrolled 23 obese women without comorbidity and evaluated if simvastatin 20 mg/day dose therapy for 6 weeks (n=15) may modulate plasma levels of inflammatory CXCL-10, CCL-2, CXCL-9, CXCL-8, and CCL-5. A significant decrease of cholesterol and its fractions, triglycerides, and high-sensitivity C-reactive protein (hsCRP) after simvastatin treatment was observed when compared to placebo (n=8). Chemokine plasma levels were unchanged by statin intake when compared to placebo. Although dyslipidemia biomarkers and hsCRP have been diminished by simvastatin, low chemokine amounts produced by healthy obese women do not seem to be altered by simvastatin anti-inflammatory activity.

NLRP1 L155H Polymorphism is a Risk Factor for Preeclampsia Development.

PROBLEM: Augmented levels of IL-1ß have been pointed out as an important pathogenic factor for preeclampsia development. Inflammasome is the cytoplasmic complex responsible for pro-IL1ß cleavage and IL-1ß secretion. Aim of the study was to evaluate the association between polymorphisms in inflammasome' genes and preeclampsia. METHOD OF STUDY: Selected polymorphisms in inflammasome genes (NLRP1, NLRP3, CARD8, and IL1B) were analyzed in 286 Brazilian women with and 309 without preeclampsia. RESULTS AND CONLCLUSIONS: The NLRP1 variant rs12150220 (L155H) was associated with the development of preeclampsia (OR = 1.58), suggesting a role of this inflammasome receptor in the pathogenesis of this multifactorial disorder.

Seroprevalence of Toxocara spp. in children with atopy.

BACKGROUND: Epidemiological studies around the world suggest that infection with Toxocara spp. can contribute to the development or worsening of atopic diseases, especially in children. This study investigated the seroprevalence of toxocariasis in atopic children treated at the pediatric clinic of the Federal University of Uberlândia Clinical Hospital, identifying possible relationships with risk factors. METHODS: The study was conducted between November 2011 and March 2013. Blood samples were collected from 173 children aged 6 to 15 years, who were first subjected to clinical exams and then to a skin-prick test to determine the presence or absence of atopy. Risk factors for toxocariasis were analyzed based on a questionnaire. Serum samples were tested for the presence of IgG antibodies to Toxocara spp. by means of enzyme-linked immunosorbent assay. RESULTS: The seroprevalence of Toxocara spp. was 19.6% (24/122) in atopic children and 15% (8/51) in non-atopic children, with no statistical difference. No significant association was found between infection and possible risk factors in atopic and non-atopic children. CONCLUSIONS: Although no statistical association was found between human toxocariasis and atopy, this study revealed a high seroprevalence of Toxocara spp. in children that may indicate environmental contamination with the parasite's eggs in the area where these children live.

Common variable immunodeficiency and isosporiasis: first report case / Imunodeficiência comum variável e isosporíase: primeiro relato de caso

We report a severe case of diarrhea in a 62-year-old female HIV-negative patient from whom Giardia lamblia and Isospora belli were isolated. Because unusual and opportunistic infections should be considered as criteria for further analysis of immunological status, laboratory investigations led to a diagnosis of common variable immunodeficiency (CVID). This is the first reported case of isosporiasis in a patient with CVID and illustrates the importance of being aware of a possible link, particularly in relation to primary immunodeficiency.

Trata-se de relato de caso de uma paciente de 62 anos, sexo feminino, HIV negativo apresentando um quadro grave de diarréia, sendo isolados Giardia lamblia e Isospora belli. Infecções incomuns e oportunistas devem ser consideradas como um sinal para alerta para que se analise o sistema imunológico. O diagnóstico de imunodeficiência de comum variável foi realizado após investigação. Este é o primeiro caso relatado de isosporíase em pacientes com imunodeficiência comum variável e mostra a importância de estar alerta tambem em relação a imunodeficiências primárias.

Functional MMP-9 polymorphisms modulate plasma MMP-9 levels in multiple sclerosis patients.

We have described that MMP-9 C(-1562)T and (CA)(n) polymorphisms contribute to multiple sclerosis (MS). Here, we evaluate whether plasma MMP-9 levels are related to disease severity, drug therapy resistance and polymorphisms. For sub-study 1, 36 patients with MS and 35 controls were recruited. For sub-study 2, 88 individuals (53 patients and 35 controls) were included in a cross-sectional analysis. MS patients presented higher MMP-9 activity (1.4±0.18 versus 0.93±0.18A.U. for control, P<0.05). Drug-therapy resistant individuals exhibited increased MMP-9 activity (1.96±0.25 versus 1.21±0.09A.U. for non-resistant patients). EDSS score was also related to MMP-9 levels. The CT+TT and HH genotypes had higher MMP-9 levels as compared to patients carrying the CC and LL. Drug therapy resistance, disease severity, MMP-9 plasma activity and polymorphisms are associated with MS.

Functional polymorphism located in MMP-9 gene promoter is strongly associated with obesity.

The adipose tissue expansion is accompanied by remodeling of extracellular matrix performed by matrix metalloproteinases (MMPs). Higher plasma and tissue MMP-9 levels are found in obese; therefore, we evaluated if the functional C(-1562)T polymorphism (rs3918242) located in promoter region of the MMP-9 gene is associated with obesity in women. We studied 112 lean and 114 obese women. Plasma MMP-9 and tissue inhibitor of MMP-9 (TIMP)-1 were measured using enzyme-linked immunosorbent assay. We found different genotype frequencies between lean and obese women (p=0.008), prevailing T-allele in obese (2.3-fold). However, although obese women present higher levels of plasma MMP-9, lack of modulation by the polymorphism was found (all p>0.05). Our findings suggest that C(-1562)T polymorphism may contribute to pathogenetic mechanisms involved in the development of obesity in women.

4G/5G polymorphism modulates PAI-1 circulating levels in obese women.

The increase in plasminogen activator inhibitor type 1 (PAI-1) has been described as a risk factor to thrombosis-related diseases. In addition, it has been demonstrated that the variant 4G of polymorphism 4G/5G located in promoter region of PAI-1 gene is associated with higher PAI-1 levels. We investigate the role of this polymorphism on circulating PAI-1 concentration in a population of 57 obese women (23%, 4G/4G; 49%, 4G/5G and 28%, 5G/5G genotypes). Our results demonstrate a genotype-specific modulation on PAI-1 levels in obese women, thus 5G/5G genotype presented significantly lower levels of plasma PAI-1 when compared to 4G/4G group (46 ± 19 ng/mL vs. 63 ± 13 ng/mL, respectively). Our findings indicate that obese carriers of 4G/4G genotype may have increased risk to develop thrombotic diseases.

Common variable immunodeficiency and isosporiasis: first report case.

We report a severe case of diarrhea in a 62-year-old female HIV-negative patient from whom Giardia lamblia and Isospora belli were isolated. Because unusual and opportunistic infections should be considered as criteria for further analysis of immunological status, laboratory investigations led to a diagnosis of common variable immunodeficiency (CVID). This is the first reported case of isosporiasis in a patient with CVID and illustrates the importance of being aware of a possible link, particularly in relation to primary immunodeficiency.

Quality of life in children and adolescents with allergic rhinitis.

UNLABELLED: Allergic rhinitis (AR) remains a significant pediatric health problem because of the burden of uncontrolled symptoms on daily activities and on general well being. AIM: to assess the impact of AR on health-related quality of life (HRQL) of children and adolescents using a generic instrument, the Child Health Questionnaire (CHQ - PF50). METHODS: Between January and November 2004, parents or caregivers of 23 children and adolescents with AR without comorbidities and with positive prick tests for at least one air allergen were invited to participate of a cross-sectional study and asked to answer the self-administered CHQ-PF50. The scores were compared to those of healthy children and adolescents. RESULTS: Patient scores were lower (p<0.05) than healthy subsets in both the physical and psychosocial summaries and in most of the CHQ-PF50 scales (p<0,05), except for the 'change in health' scale. The size effect was higher in the physical score compared to the psychosocial summary score. CONCLUSIONS: allergic rhinitis has a global negative impact on the HRQL of children and adolescents, with major repercussions in physical function; AR also negatively affects family relations.

Deficiência de anticorpos anti-polissacarídicos: relato de casos / Impaired polysaccharide responsiveness: cases report

Introdução: A deficiência de anticorpos antipolissacaride ou deficiência parcial de anticorpos é considerada uma dasquatro imunodeficiências mais comuns da infância e sua principal manifestação são as infecções bacterianas repetitivas das vias aéreas.Descrição: São relatados casos de três pacientes com historta de infecções de repetição de diferentes evoluções cujaavaliação imunológica demonstrou uma produção alterada de anticorpos ao Streptococcus pneumoniae após imunização para os sorotipos testados, embora apresentasse níveis normais deimunoglobulinas, cuja instalação de um tratamento adequado promoveu a redução nas infecções bem como da qualidade de vida desses pacientes.Comentários: A grande maioria dos pacientes com deficiência de anticorpos antipolissacaride necessita de tratamento antibiótico agressivo nas infecções, cursos de antibióticos profiláticos, e em alguns casos, de terapia de reposição de imuneglobulinas.Alguns pacientes podem se beneficiar da vacinação heptavalente conjugada para o S.pneumoniae. É necessárioampliar a informação médica com relação ao diagnóstico apresentadonessa série, bem como, melhorar a rede laboratorial de propedêutica diagnóstica para permitir a identificação dessa patologia.

Introduction: Impaired polysaccharide responsiveness or partial antibodies defect is considered one of the four mostcommon immunodeficiencies in pediatric patients and is characterized by recurrent bacterial respiratory infectlons.Description: Three cases are related with a recurrent infections history with different evaluations, which immunological evaluations showed impaired antibodies response againstStreptococcus pneumoniae after immunization for tested serotypes,although presented normal leveis of immunoglobulin. The adequate treatment reduced the number and severity of infections and improved the patient's quality of life.Comments: The majority of patients with impaired polysaccharide responsiveness require aggressive antibiotic treatmentduring infections, serres of prophylactic antibiotics, and, rarely, IgG replacement. Some patients may clinicai benefit from írnmunization with the conjugate vaccine to S.pneumoniae. It'simportant to improve the medical information about the presenteddiagnosis, in addition to amplify the number of practiced laboratories to better identification of this disease.