Point-of-Care Electrochemical Immunosensor Applied against Nosocomial Infection: Staphylococcus aureus Detection in Human Hand Skin.

Staphylococcus aureus is an important pathogen that causes nosocomial infections, resulting in unacceptable morbidity and mortality rates. In this work, we proposed the construction of a nanostructured ZnO-based electrochemical immunosensor for qualitative and semiquantitative detection of S. aureus using simple methods for growing zinc oxide nanorods (ZnO NRs) on a sensor board and immobilizing the anti-S. aureus antibody on ZnO NRs through cystamine and glutaraldehyde. The immunosensor detected S. aureus in the 103-107 colony-forming unit (CFU) mL-1 range and showed a limit of detection (LoD) around 0.792 × 103 CFU mL-1. Beyond a satisfactory LoD, the developed immunosensor presented other advantages, such as high versatility for point-of-care assays and a suitable selective factor that admits the detection of the S. aureus concentration range in human hand skin after washing. Moreover, the immunosensor showed the potential to be an excellent device to control nosocomial infection by detecting the presence of S. aureus in human hand skin.

Clinical and Genetic Characterization of Familial Central Precocious Puberty.

CONTEXT: Central precocious puberty (CPP) can have a familial form in approximately one-quarter of the children. The recognition of this inherited condition increased after the identification of autosomal dominant CPP with paternal transmission caused by mutations in the MKRN3 and DLK1 genes. OBJECTIVE: We aimed to characterize the inheritance and estimate the prevalence of familial CPP in a large multiethnic cohort; to compare clinical and hormonal features, as well as treatment response to GnRH analogs (GnRHa), in children with distinct modes of transmission; and to investigate the genetic basis of familial CPP. METHODS: We retrospectively studied 586 children with a diagnosis of CPP. Patients with familial CPP (n = 276) were selected for clinical and genetic analysis. Data from previous studies were grouped, encompassing sequencing of MKRN3 and DLK1 genes in 204 patients. Large-scale parallel sequencing was performed in 48 individuals from 34 families. RESULTS: The prevalence of familial CPP was estimated at 22%, with a similar frequency of maternal and paternal transmission. Pedigree analyses of families with maternal transmission suggested an autosomal dominant inheritance. Clinical and hormonal features, as well as treatment response to GnRHa, were similar among patients with different forms of transmission of familial CPP. MKRN3 loss-of-function mutations were the most prevalent cause of familial CPP, followed by DLK1 loss-of-function mutations, affecting, respectively, 22% and 4% of the studied families; both affected exclusively families with paternal transmission. Rare variants of uncertain significance were identified in CPP families with maternal transmission. CONCLUSION: We demonstrated a similar prevalence of familial CPP with maternal and paternal transmission. MKRN3 and DLK1 loss-of-function mutations were the major causes of familial CPP with paternal transmission.

When Bothering is Part of Professional Practice: Interprofessional Collaboration and Institutional Influences in Primary Care.

In Western healthcare systems, increasing numbers of nurse practitioners are practicing in primary care organizations, and their integration onto interprofessional teams can be somewhat bumpy. In this article, we rely on the institutional theory of organizational communication to investigate the situated communication challenges faced by NPs as they integrate onto primary health care teams (RQ1), and how these local challenges manifested institutional features (RQ2). We analyze interview data from NPs, their physician partners, clinical nurses, and a network administrator for NPs at five family medicine clinics in Quebec, Canada. We found three main challenges to IP communication between NPs and physicians, namely a lack of time, the professional necessity of bothering, and talking to - and like - a doctor. We present the solutions that participants found to overcome or workaround these challenges. We also interpreted the institutional features that inflected - or "moored" - the situated communication practices and challenges reported by our participants to better understand how the local experience of IP communication is shaped by broader institutional forces.

Impact of the COVID-19 pandemic on the development of burnout syndrome in frontline physicians: prevalence and associated factors.

OBJECTIVE: To evaluate the prevalence of burnout syndrome (BS) in physicians working during the COVID-19 pandemic in Paraíba and to investigate the association between BS and the sociodemographic and labor variables of these professionals. METHODS: This was a cross-sectional study including physicians who were active during the pandemic in Paraíba, whether they were on the front line (group 1) or not (group 2). Sociodemographic and labor variables were collected, and the Maslach Burnout Inventory-Human Services Survey (MBI-HSS) questionnaire was applied. RESULTS: A total of 126 physicians were included, including 82 who were on the front line. Among the professionals with results compatible with BS, 85.5% were in group 1, compared with 14.5% in group 2, and this difference was statistically significant. At the 5% level, the variables associated with BS were age (24-33 years), not having children, working on the front line, working in the COVID-19 ICU, being on duty, and having contracted COVID-19. CONCLUSIONS: This case series found a positive association between the development of BS and medical action on the front line of the COVID-19 pandemic in Paraíba.

Anthropometric, metabolic, and reproductive outcomes of patients with central precocious puberty treated with leuprorelin acetate 3-month depot (11.25 mg).

OBJECTIVES: Longer-acting gonadotropin-releasing hormone analogs (GnRHa) have been widely used for central precocious puberty (CPP) treatment. However, the follow-up of patients after this treatment are still scarce. Our aim was to describe anthropometric, metabolic, and reproductive follow-up of CPP patients after treatment with leuprorelin acetate 3-month depot (11.25 mg). METHODS: Twenty-two female patients with idiopathic CPP were treated with leuprorelin acetate 3-month depot (11.25 mg). Their medical records were retrospectively evaluated regarding clinical, hormonal, and imaging aspects before, during, and after GnRHa treatment until adult height (AH). RESULTS: At the diagnosis of CPP, the mean chronological age (CA) was 8.2 ± 1.13 year, and mean bone age (BA) was 10.4 ± 1.4 year. Mean height SDS at the start and the end of GnRHa treatment was 1.6 ± 0.8 and 1.3 ± 0.9, respectively. The mean duration of GnRHa treatment was 2.8 ± 0.8 year. Mean predicted adult heights (PAH) at the start and the end of GnRH treatment was 153.2 ± 8.6 and 164.4 ± 7.3 cm, respectively (p<0.05). The mean AH was 163.2 ± 6.2 cm (mean SDS: 0.1 ± 1). All patients were within their target height (TH) range. There was a decrease in the percentage of overweight and obesity from the diagnosis until AH (39-19% p>0.05). At the AH, the insulin resistance and high LDL levels were identified in 3/17 patients (17.6%) and 2/21 patients (9.5%), respectively. The mean CA of menarche was 12.2 ± 0.5 years. At the AH, PCOS was diagnosed in one patient (4.8%). CONCLUSIONS: Long-term anthropometric, metabolic, and reproductive follow-up of patients with CPP treated with longer-acting GnRHa revealed effectivity, safety, and favorable outcomes.

Impact of the COVID-19 pandemic on the development of burnout syndrome in frontline physicians: prevalence and associated factors

SUMMARY OBJECTIVE: To evaluate the prevalence of burnout syndrome (BS) in physicians working during the COVID-19 pandemic in Paraíba and to investigate the association between BS and the sociodemographic and labor variables of these professionals. METHODS: This was a cross-sectional study including physicians who were active during the pandemic in Paraíba, whether they were on the front line (group 1) or not (group 2). Sociodemographic and labor variables were collected, and the Maslach Burnout Inventory-Human Services Survey (MBI-HSS) questionnaire was applied. RESULTS: A total of 126 physicians were included, including 82 who were on the front line. Among the professionals with results compatible with BS, 85.5% were in group 1, compared with 14.5% in group 2, and this difference was statistically significant. At the 5% level, the variables associated with BS were age (24-33 years), not having children, working on the front line, working in the COVID-19 ICU, being on duty, and having contracted COVID-19. CONCLUSIONS: This case series found a positive association between the development of BS and medical action on the front line of the COVID-19 pandemic in Paraíba.

Segurança alimentar de famílias com pré-escolares da zona rural de um município do Vale do Paraíba paulista / Food Security of families with preschool children in rural areas of the Vale do Paraíba in São Paulo

Objetivo: Avaliar a situação de segurança alimentar de famílias com crianças préescolares da zona rural de um município do Vale do Paraíba paulista. Métodos: Estudo transversal e analítico, com questionário socioeconômico, demográfico e sobre o plantio de hortas e pomares nos domicílios, além da Escala Brasileira de Insegurança Alimentar. Os dados foram tratados por meio da estatística descritiva e os testes de hipóteses seguiram nível de significância de 5%. Resultados: Participaram da pesquisa 98 mães de crianças de quatro meses a seis anos de idade, moradoras da zona rural. Verificou-se que 51% das famílias estavam em situação de insegurança alimentar, prevalecendo a forma leve. Encontrou-se associação entre insegurança alimentar e as variáveis: escolaridade materna, renda familiar e recebimento de benefício social. Conclusão: Número considerável de famílias se encontrava em situação de insegurança alimentar; os fatores associados se relacionam com a vulnerabilidade social das famílias, demonstrando a necessidade de melhoria nas condições de vida e acesso aos alimentos para as famílias. (AU)

Objective: to evaluate the situation of Food Security of families with children of primary schools in the rural areas of the Vale do Paraíba Paulista. Methods: a cross-sectional and analytical study, in which it was applied a socioeconomic and demographic questionnaire, questions about the kitchen gardens and orchards plantation's in the houses, and Brazilian Food Insecurity Scale. The data was analyzed by descriptive statistic and the hypothesis tests followed a significance level of 5%. Results: the participants were 98 mothers of children from 4 months to 6 years old, living in the countryside. It was verified that 51% of the families were in Food Insecurity, predominating the light form. It was found association between Food Insecurity and the variables: educated mothers, monthly income of the families and the receiving of social benefit. Conclusion: a considerable number of children assessed who live in the countryside are in Food Insecurity situation; the associated factors relate to the social vulnerability of families. It is necessary to take actions that in fact will improve the access to food and living situation of these families. (AU)

Author Correction: Controlling parameters and characteristics of electrochemical biosensors for enhanced detection of 8-hydroxy-2'-deoxyguanosine.

An amendment to this paper has been published and can be accessed via a link at the top of the paper.

Early diagnosis of Zika infection using a ZnO nanostructures-based rapid electrochemical biosensor.

In this work, we report a develop of electrochemical immunosensor based on ZnO nanostructures immobilized with ZIKV-NS1 antibody on Printed Circuit Board (PCB). ZnO nanostructures were grown on PCB by chemical bath deposition (CDB) and characterized by SEM. ZIKV-NS1 antibody was immobilized on the ZnO nanostructures surface via cystamine and glutaraldehyde. The samples were characterized by Immunofluorescence Confocal Microscopy and FTIR to identify the immobilization of the antibody to the sensor board. The analytical responses of the immunosensor were evaluated by Cyclic Voltammetry (CV). The biosensor developed here allows rapid detection of Zika virus in undiluted urine, without cross reactive with DENV-NS1 antigen, with linear range 0.1  ng mL-1 to 100 ng mL-1. The limit of detection is lower than 1.00 pg  mL-1. The biosensor is portable, cost-effectiveness, and simple to use, which makes it ideal for point-of-care applications.

Controlling parameters and characteristics of electrochemical biosensors for enhanced detection of 8-hydroxy-2'-deoxyguanosine.

This work discusses the parameters and characteristics required on the development of a scalable and reliable electrochemical sensor board for detecting 8-hydroxy-2'-deoxyguanosine (8-OHdG), an oxidative stress biomarker for diabetic nephropathy, cancer and Parkinson's disease. We used Printed Circuit Board (PCB) technology to make a precise, low-cost bare sensor board. ZnO nanorods (NRs) and ZnO NRs: reduced graphene oxide (RGO) composites were used as a pathway for antibody immobilization on the working electrode (WE). The parameters and characteristics of the WE were controlled for enhancing the quality of the electrochemical sensor board. Thickness of the gold and the presence of ZnO NRs or their composite on the WE have influence on charge transference process and reproducibility of the sensor board. The amount of the antibody, and its incubation period are crucial to avoid saturation of the sites during immobilization step and reduce the cost of the sensor. Our ZnO NRs-based electrochemical sensor board showed high sensitivity and selectivity to 8-OHdG with detection capacity in the range of 0.001-5.00 ng.mL-1. The successful application of our immunosensor to detect 8-OHdG in urine was evidenced.

Luto e medicalização: gestão do sofrimento entre mães que perderam filhos / Mourning and medicalization: management of suffering among mothers who lost children

Resumo O artigo coloca em discussão a medicalização como forma de gestão do sofrimento de mães que perderam filhos, evidenciando como o luto é psicologizado e psiquiatrizado na sociedade contemporânea e como os saberes "psi" são apropriados por aqueles que sofrem. O objetivo do trabalho foi compreender como as mães que perderam filhos lidaram com esses saberes na gestão de seu sofrimento. Optou-se metodologicamente pela realização de entrevistas com base em roteiros semiestruturados com mães enlutadas e alguns de seus familiares e amigos, sempre conduzidas a partir de um olhar etnográfico. Ao todo, foram entrevistadas seis mães e seis familiares. Conclui-se que a relação entre a medicalização e o luto é permeada por um constante processo de negociação, pois o saber adquirido pelas mães a partir de suas experiências e o "saber psi" institucionalizado atuam em uma relação de complementaridade.

Abstract The article discusses medicalization as a way of managing the suffering of mothers who have lost children, highlighting how grief is psychologized and psychiatrized in contemporary society and how "psi" knowledge is appropriated by those who suffer. The study aimed to understand how mothers who lost children dealt with this knowledge in the management of their suffering. Methodologically, interviews were conducted based on semi-structured scripts with bereaved mothers and some of their relatives and friends, always conducted from an ethnographic perspective. In all, six mothers and six family members were interviewed. It is concluded that the relationship between medicalization and grief is permeated by a constant process of negotiation, because the knowledge acquired by mothers from their experiences and the institutionalized "psi knowledge" act in a relationship of complementarity.

Dialogando com a bioética: problemas éticos vivenciados pela equipe de Enfermagem na Estratégia de Saúde da Família / Dialogue with bioethics: ethical problems experienced by the Nursing team in the Family Health Strategy

A presente pesquisa trata-se de um estudo qualitativo, de cunho descritivo e exploratório com vistas a identificar os problemas éticos que emergem da prática de Enfermagem, descrever como os profissionais lidam com tais situações e sua fundamentação para a tomada de decisão no cuidado. O cenário escolhido foi o da atenção básica, reorganizada pela Estratégia de Saúde da Família, em um município do interior paulista. Os participantes envolvidos foram enfermeiros, técnicos de Enfermagem, com predomínio do sexo feminino, faixa etária entre 41- 50 anos, todos declararam possuir alguma religião/crença ou culto. Em relação a formação principal, a maioria possuía curso superior, sendo alguns não relacionados a área da saúde. Sobre o tempo que os participantes atuam na função exercida atualmente, houve variação nos períodos, com predomínio de atuação de 11 à 15 anos. A cerca do tempo de atuação na ESF, a prevalência ocorreu no período de 6 meses à 10 anos. No segundo momento, ao imergirem na temática da ética aplicada a prática profissional, ao pensarem sobre a definição de ética, ocorreram as seguintes associações: respeito, empatia e sigilo. Em relação a definição de problema ético, foram citados a falta de respeito e a falta de sigilo. Refletindo sobre a ocorrência de problemas éticos na prática profissional na ESF, a maioria dos participantes já vivenciou algum tipo de situação ética, sendo eles caracterizados nas relações com usuários, família ou comunidade; relações entre a equipe ou relação com a organização e gestão do sistema de saúde. Os problemas éticos apontados profissionais entrevistados parecem confirmar a ideia de que, na atenção básica, estes são constituídos, de maneira geral, por preocupações do cotidiano da atenção à saúde. As soluções propostas para o enfrentamento do problema ético estão relacionadas com a utilização do diálogo como mediador ou do respeito a privacidade, demonstrando uma preocupação dos profissionais de Enfermagem em preservar o ser humano e seus direitos individuais. Da mesma forma, ao proporem soluções para o caso fictício apresentado, grande parte dos profissionais relatou utilizar o diálogo, a conversa, a comunicação como estratégia para lidar com situações éticas. Sobre a fundamentação utilizada para a tomada de decisão no cuidado, a maioria dos profissionais informou se apoiar nos valores pessoais e familiares para a fundamentação, o que pode ocasionar relativismo das ações na prática profissional

The present research is qualitative, descriptive and exploratory study with the purpose of identifying the ethical problems that emerge from Nursing practice, describing how professionals deal with such situations and their rationale for decision making in care. The scenario was that of basic care, reorganized by the Family Health Strategy, in a municipality in the interior of São Paulo. Participants were nurses, Nursing technicians, with a predominance of females, between the ages of 41 and 50, all of whom declared to have some religion / belief or cult. In relation to the main training, the majority had a college degree, some of them not related to the health area. Regarding the time that the participants act in the function currently exercised, there was variation in the periods, with a predominance of performance from 11 to 15 years. Around the time of performance in the ESF, the prevalence occurred in the period of 6 months to 10 years. In the second moment, as they immersed in the thematic of ethics the professional practice, when thinking about the definition of ethics, the following associations took place: respect, empathy and secrecy. Regarding the definition of ethical problem, respect and lack of confidentiality were mentioned. Reflecting on the occurrence of ethical problems in professional practice in the ESF, most of the participants have already experienced some type of ethical situation, being characterized in the relations with users, family or community; relationships between the team or relationship with the organization and management of the health system. The ethical problems pointed out by professionals interviewed seem to confirm the idea that, in basic care, these are generally constituted by daily health care concerns. The solutions proposed to face the ethical problem are related to the use of dialogue as a mediator or respect for privacy, demonstrating a concern of Nursing professionals in preserving the human being and their individual rights. Likewise, in proposing solutions to the fictitious case presented, most professionals reported using dialogue, conversation and communication as a strategy to deal with ethical situations. Regarding the reasoning used for decision making in the care, most professionals informed if they supported personal and family values for the reasoning, which can cause relativism of actions in professional practice

Fatores de risco associados à intervenção com injeção intravítrea de anti-VEGF em pacientes com edema macular diabético / Risk factors related to the intervention with intravitreal anti-VEGF injection in patients with diabetic macular edema

Resumo Objetivo: Propor um modelo de regressão logística para auxiliar na decisão de realização da injeção intravítrea (IIV) de anti-VEGF, a partir da quantificação e hierarquização dos fatores de risco que compõem o perfil dos indivíduos diabéticos. Métodos: Trata-se de estudo transversal, observacional e inferencial, realizado em três instituições da Paraíba, de julho de 2015 a setembro de 2016. O modelo de regressão logística foi utilizado para obtenção do modelo preditivo e os dados foram analisados no software R®. Resultados: Foram avaliados 80 pacientes com diabetes tipo 1 ou 2, maiores de 18 anos, dos quais 57,5% não tiveram indicação de IIV e 42,5% receberam indicação deste tratamento. No grupo com edema macular diabético (EMD), a média de idade foi de 60,65 anos, sendo 52,94% do sexo feminino. Ainda nesse grupo, a maioria apresentou retinopatia diabética não-proliferativa severa ou retinopatia proliferativa (79,41%). Foram identificados como fatores de risco para EMD: o indivíduo ser aposentado (OR=5,22; p-valor 0,05), ter histórico pessoal de retinopatia diabética (OR=20,27; p-valor 0,006) e de tratamento prévio com anti-VEGF (OR=23,23; p-valor 0,002). Conclusão: Os resultados da pesquisa evidenciaram que um indivíduo diabético com baixa visual e apresentando esses três fatores deve ser encaminhado o quanto antes ao especialista, pois possui, com 91,17% de acerto, risco de apresentar EMD com necessidade de IIV de anti-VEGF. Essa ferramenta pode servir como coadjuvante na tomada de decisão, sobretudo do não-retinólogo, a fim de encaminhar para diagnóstico e tratamento precoces os indivíduos com EMD, o que pode ser decisivo na prevenção da perda visual irreversível nesses pacientes.

Abstract Purpose: To propose a predictive model to aid in the decision to perform the intravitreal anti-VEGF injection, based on the risk factors quantification and hierarchy presented by diabetic patients. Methods: It is a cross-sectional, observational and inferential study carried out in three institutions in Paraíba from July 2015 to September 2016. The logistic regression model was used to obtain the predictive model and data were analyzed in R(r) software. Results: Eighty patients with type 1 or 2 diabetes, over 18 years of age, were included, 57.5% of whom had no indication of IIV and 42.5% received an indication of this treatment. In the group with diabetic macular edema (DME), the mean age was 60.65 years, of which 52.94% were female. In this group, the majority presented severe non-proliferative diabetic retinopathy or proliferative retinopathy (79.41%). The main risk factors for DME were: be retired (OR = 5.22, p-value0.05), had a personal history of diabetic retinopathy (OR = 20.27, p-value 0.006), and previous treatment with anti-VEGF (OR = 23.23, p-value 0.002). Conclusion: The results of the research showed that a diabetic patient with low visual acuity and presenting these three factors should be referred as soon as possible to the specialist, since he presents a risk of presenting DME with need for anti-VEGF IIV, with 91.17% of accuracy. This tool can serve as an adjunct to decision making, especially the nonretinologist, in order to refer individuals with EMD to early diagnosis and treatment, which may be crucial in preventing irreversible visual loss in these patients.

Monitoramento da avaliação antropométrica no contexto do sistema de vigilância alimentar e nutricional na atenção primária à saúde / Monitoring of anthropometric assessment in the context of the food and nutrition surveillance system in primary health care

O objetivo deste trabalho foi verificar a ocorrência da aferição de medidas antropométricas em usuários de Unidades Básicas de Saúde, o desempenho de profissionais de saúde na prática das técnicas de aferição e a transferência desses dados para o SISVAN web. Estudo descritivo no qual a coleta de dados foi realizada, a partir de questionário aplicado pela Rede SANS entre os gestores, membros da equipe de saúde das Unidades e responsáveis pela transferência de dados para o SISVAN. Foram avaliadas oito Unidades Básicas de Saúde e a população total do estudo foi constituída por 79 indivíduos. Observou-se que todos os membros das equipes de saúde realizavam a antropometria em todas as faixas etárias. Quanto às técnicas de medidas antropométricas realizadas em crianças e adultos, verificou-se que a maioria das medidas foram aferidas corretamente. No entanto, observaram-se dificuldades quanto à aferição do comprimento em crianças e procedimentos, que deveriam ser realizados antes da aferição do peso em adultos e crianças. 52,9% dos membros da equipe afirmaram não realizar o cadastro de informações ou preenchimento de planilhas para o SISVAN web e, de acordo com os responsáveis pela transferência de dados, para o sistema informatizado, eram registrados apenas dados antropométricos de crianças entre 0 a 10 anos. Portanto, são necessárias, por parte dos gestores, ações de sensibilização e capacitação de profissionais que trabalham na atenção primária à saúde.

This study aimed to check that anthropometric measurements are properly carried out for Basic Health Unit (BHU) users, as well as evaluate health professionals' performance during anthropometric measurement and data transfer to the SISVAN web. This was a descriptive study, and data collection was done using a questionnaire applied via the Network for the Defense and Promotion of Healthy, Appropriate, and Supportive Eating, among the managers, health unit team members, and professionals responsible for transferring data to the SISVAN web. Eight BHUs were evaluated, and the overall study population consisted of 79 individuals. It was observed that all BHU staff members carry out anthropometric measurements on all age groups. As for the techniques for carrying out anthropometric measurements on children and adults, it was found that most were properly carried out; however, problems were observed in the height measurement in children and in other procedures that must be performed before weight measurement of adults and children. Overall, 52.90% of the BHU staff members do not record information or fill out the worksheets for the SISVAN web, and according to those responsible for transferring data to the information system, only the anthropometric data of children from 0 to 10 years of age is recorded. So, actions by authorities are needed to raise awareness and train professionals working in primary health care.

Congenital central hypoventilation syndrome associated with Hirschsprung's Disease: case report and literature review / Síndrome de hipoventilação central congênita associada à doença de Hirschsprung: relato de caso e revisão de literatura

Abstract Objective: To report the case of a newborn with recurrent episodes of apnea, diagnosed with Congenital Central hypoventilation syndrome (CCHS) associated with Hirschsprung's disease (HD), configuring Haddad syndrome. Case description: Third child born at full-term to a non-consanguineous couple through normal delivery without complications, with appropriate weight and length for gestational age. Soon after birth he started to show bradypnea, bradycardia and cyanosis, being submitted to tracheal intubation and started empiric antibiotic therapy for suspected early neonatal sepsis. During hospitalization in the NICU, he showed difficulty to undergo extubation due to episodes of desaturation during sleep and wakefulness. He had recurrent episodes of hypoglycemia, hyperglycemia, metabolic acidosis, abdominal distension, leukocytosis, increase in C-reactive protein levels, with negative blood cultures and suspected inborn error of metabolism. At 2 months of age he was diagnosed with long-segment Hirschsprung's disease and was submitted to segment resection and colostomy through Hartmann's procedure. A genetic research was performed by polymerase chain reaction for CCHS screening, which showed the mutated allele of PHOX2B gene, confirming the diagnosis. Comments: This is a rare genetic, autosomal dominant disease, caused by mutation in PHOX2B gene, located in chromosome band 4p12, which results in autonomic nervous system dysfunction. CCHS can also occur with Hirschsprung's disease and tumors derived from the neural crest. There is a correlation between phenotype and genotype, as well as high intrafamilial phenotypic variability. In the neonatal period it can simulate cases of sepsis and inborn errors of metabolism.

Resumo Objetivo: Relatar caso de neonato com episódios de apneias recorrentes, diagnosticado com síndrome de hipoventilação central congênita (SHCC) associada à doença de Hirschsprung (DH), o que configurou síndrome de Haddad. Descrição do caso: Terceiro filho de casal não consanguíneo, nascido a termo, parto normal sem intercorrências, peso e comprimento adequados para idade gestacional. Logo após o nascimento apresentou bradipneia, bradicardia e cianose, foi submetido à intubação orotraqueal e iniciada antibioticoterapia empírica devido à suspeita de sepse neonatal precoce. Durante internação em UTI neonatal evoluiu com dificuldade de extubação devido a episódios de dessaturação durante sono e vigília. Apresentou quadros recorrentes de hipoglicemia, hiperglicemia, acidose metabólica, distensão abdominal, leucocitose, aumento de proteína C reativa, com hemoculturas negativas e suspeita de erro inato do metabolismo. Aos dois meses foi diagnosticada doença de Hirschsprung de segmento longo, foi submetido à ressecção do segmento e colostomia à Hartmann. Feita pesquisa genética por reação em cadeia da polimerase para pesquisa de SHCC, que evidenciou alelo mutado do gene PHOX2B e confirmou o diagnóstico. Comentários: Trata-se de doença genética rara, de herança autossômica dominante, causada por mutação no gene PHOX2B, localizado na banda cromossômica 4p12, que resulta em disfunção do sistema nervoso autônomo. A SHCC também pode cursar com doença de Hirschsprung e tumores derivados da crista neural. Há correlação entre fenótipo e genótipo, além de grande variabilidade fenotípica intrafamiliar. No período neonatal pode simular quadros de sepse e erros inatos do metabolismo.

Congenital central hypoventilation syndrome associated with Hirschsprung's Disease: case report and literature review. / Síndrome de hipoventilação central congênita associada à doença de Hirschsprung: relato de caso e revisão de literatura.

OBJECTIVE: To report the case of a newborn with recurrent episodes of apnea, diagnosed with Congenital Central hypoventilation syndrome (CCHS) associated with Hirschsprung's disease (HD), configuring Haddad syndrome. CASE DESCRIPTION: Third child born at full-term to a non-consanguineous couple through normal delivery without complications, with appropriate weight and length for gestational age. Soon after birth he started to show bradypnea, bradycardia and cyanosis, being submitted to tracheal intubation and started empiric antibiotic therapy for suspected early neonatal sepsis. During hospitalization in the NICU, he showed difficulty to undergo extubation due to episodes of desaturation during sleep and wakefulness. He had recurrent episodes of hypoglycemia, hyperglycemia, metabolic acidosis, abdominal distension, leukocytosis, increase in C-reactive protein levels, with negative blood cultures and suspected inborn error of metabolism. At 2 months of age he was diagnosed with long-segment Hirschsprung's disease and was submitted to segment resection and colostomy through Hartmann's procedure. A genetic research was performed by polymerase chain reaction for CCHS screening, which showed the mutated allele of PHOX2B gene, confirming the diagnosis. COMMENTS: This is a rare genetic, autosomal dominant disease, caused by mutation in PHOX2B gene, located in chromosome band 4p12, which results in autonomic nervous system dysfunction. CCHS can also occur with Hirschsprung's disease and tumors derived from the neural crest. There is a correlation between phenotype and genotype, as well as high intrafamilial phenotypic variability. In the neonatal period it can simulate cases of sepsis and inborn errors of metabolism.

Risk Factors for Mortality and Outcomes in Pediatric Acute Lung Injury/Acute Respiratory Distress Syndrome.

OBJECTIVES: Children admitted to PICUs often present with or develop respiratory failure that requires mechanical ventilation. We prospectively identified children admitted to three general PICUs, with the goal of identifying risk factors for mortality. DESIGN: Prospective multicenter observational study. SETTING: Three general PICUs, two in São Paulo and one in Curitiba, Brazil. PATIENTS: Children aged between 1 month and 15 years, consecutively admitted between August 2008 and July 2010, with acute lung injury or acute respiratory distress syndrome that developed at least 12 hours after invasive or noninvasive mechanical ventilation. INTERVENTIONS: None. MEASUREMENTS AND MAIN RESULTS: We used logistic regression models to explore the relationship between death and independent variables. Of 3,046 patients admitted to the three PICUs, 1,658 patients underwent mechanical ventilation, and 84 fulfilled the acute lung injury/acute respiratory distress syndrome inclusion criteria and were analyzed. Nearly 60% were boys, and the median age was 31 months. Pressure control/assist control was the initial mode of mechanical ventilation in 86% of cases, and the median durations of mechanical ventilation and PICU stay were 12 and 15 days, respectively. None of the eight patients with acute lung injury died, whereas 33 of 76 of the remaining patients with acute respiratory distress syndrome died, for an overall mortality rate of 39.3% (95% CI, 28.8-50.6%). In different multivariate logistic regression model, the number of organ dysfunctions at admission, peak inspiratory pressure, airway pressure gradient on day 1, and the mean airway pressure gradient over the first 7 days of mechanical ventilation were significantly associated with mortality. CONCLUSION: Mortality is high in pediatric acute lung injury/acute respiratory distress syndrome. Mechanical ventilation-associated risk factors for death among such patients are potential targets for intervention.

[Hypothyroid polyneuropathy in a patient with autoimmune polyglandular syndrome type 2: case report]. / Polineuropatia hipotireóidea em um paciente com síndrome poliglandular autoimune tipo 2: relato de caso.

The incidence of polyneuropathy in patients with hypothyroidism is not precisely known, but some studies report that about 25% to 42% of patients may show neuropathic clinical signs. We report a case of autoimmune poliglandular syndrome type 2 (APS-2), whose initial presentation was hypothyroid polyneuropathy. A 41-year-old man complained of slowly progressive paresthesias and weakness affecting all four limbs, and associated with frequent drowsiness, weakness, cold intolerance, dizziness, nausea, and craving for salt. General physical examination showed hyperpigmentation of skin and mucous membranes, and hypotension. Neurological examination showed global, deep, and symmetrical hyporeflexia with slight signs of superficial hypoesthesia in the limbs. Electrodiagnostic studies (ENMG) together with laboratory tests, confirmed the suspicion of Hashimoto's thyroiditis associated with Addison's disease featuring the picture of APS-2. The patient was treated with fludrocortisone 0.05 mg/day and levothyroxine 100 mcg/day, and showed gradual and complete resolution of complaints. Changes were found in general physical and neurological examinations. ENMG repeated six months later showed complete resolution of neuropathy. This report shows a rare case of APS-2 presented as polyneuropathy hypothyroidism, and reinforces the importance of dosing thyroid hormone in polyneuropathy syndromes. Levothyroxine replacement was shown to be effective in reversing clinical and electrophysiologic neuropathy.

Polineuropatia hipotireóidea em um paciente com síndrome poliglandular autoimune tipo 2: relato de caso / Hypothyroid polyneuropathy in a patient with autoimmune polyglandular syndrome type 2: case report

A incidência de polineuropatia em indivíduos com hipotireoidismo não é precisamente conhecida, mas alguns estudos relatam que cerca de 25% a 42% dos pacientes podem apresentar sinais clínicos neuropáticos. A seguir, relataremos um caso de síndrome poliglandular autoimune tipo 2 (SPA-2), cuja apresentação inicial foi uma polineuropatia hipotireóidea. Homem de 41 anos com queixas de parestesias e fraqueza lentamente progressiva acometendo os quatro membros associadas a sonolência frequente, astenia, intolerância ao frio, vertigens, náuseas e avidez por sal. O exame físico geral evidenciava hiperpigmentação de pele e mucosas, além de hipotensão. O exame neurológico demonstrou apenas hiporreflexia profunda global e simétrica com discretos sinais de hipoestesia superficial em extremidades dos membros. O estudo eletroneuromiográfico (ENMG), juntamente com a avaliação laboratorial, confirmou a suspeita de tireoidite de Hashimoto associada à doença de Addison, caracterizando o quadro de SPA-2. O paciente foi tratado com fludrocortisona 0,05 mg/dia e levotiroxina 100 mcg/dia e apresentou resolução gradual e completa das queixas e das alterações encontradas nos exames físico geral e neurológico. O ENMG, repetido após seis meses, evidenciou resolução completa do quadro neuropático. Este relato mostra um caso raro de SPA-2 apresentando-se como uma polineuropatia hipotireóidea e reforça a relevância da dosagem de hormônios tireoideanos em síndromes polineuropáticas. A reposição de levotiroxina mostrou-se efetiva em reverter o quadro clínico e eletrofisiológico da neuropatia. .

The incidence of polyneuropathy in patients with hypothyroidism is not precisely known, but some studies report that about 25% to 42% of patients may show neuropathic clinical signs. We report a case of autoimmune poliglandular syndrome type 2 (APS-2), whose initial presentation was hypothyroid polyneuropathy. A 41-year-old man complained of slowly progressive paresthesias and weakness affecting all four limbs, and associated with frequent drowsiness, weakness, cold intolerance, dizziness, nausea, and craving for salt. General physical examination showed hyperpigmentation of skin and mucous membranes, and hypotension. Neurological examination showed global, deep, and symmetrical hyporeflexia with slight signs of superficial hypoesthesia in the limbs. Electrodiagnostic studies (ENMG) together with laboratory tests, confirmed the suspicion of Hashimoto’s thyroiditis associated with Addison’s disease featuring the picture of APS-2. The patient was treated with fludrocortisone 0.05 mg/day and levothyroxine 100 mcg/day, and showed gradual and complete resolution of complaints. Changes were found in general physical and neurological examinations. ENMG repeated six months later showed complete resolution of neuropathy. This report shows a rare case of APS-2 presented as polyneuropathy hypothyroidism, and reinforces the importance of dosing thyroid hormone in polyneuropathy syndromes. Levothyroxine replacement was shown to be effective in reversing clinical and electrophysiologic neuropathy.