Diagnosis of cystic fibrosis: a high heterogeneity of symptoms and genotypes in a Brazil population.

INTRODUCTION: In highly multiracial populations with inadequate newborn screening, knowledge of the various phenotypic presentations of Cystic Fibrosis (CF) can help reach an early diagnosis. This study aims to describe phenotypes and genotypes at the time of CF diagnosis in a state in the Northeast Region of Brazil. METHODS: Retrospective cross-sectional study. Clinical data were extracted from the medical records of CF patients. Clinical, laboratory, and genotypic characteristics were described for patients admitted to a tertiary referral center between 2007 and 2021. RESULTS: Fifty-eight (58) patients were included in the study, 53.5% of whom were diagnosed through clinical suspicion. The median age at diagnosis was 4.7 months (IQR: 1.5-14.8 months). Five patients had false-negative results in the newborn screening. Faltering growth was the most frequent clinical manifestation. Bronchiectasis and a history of pneumonia predominated in those older than ten, while thinness, underweight, and electrolyte imbalances were more frequent in children under two. Sequencing of the CFTR gene identified 27 genotypes, with at least one class I-III variant in all patients, and nine variants that are rare, previously undescribed, or have uncertain significance (619delA, T12991, K162Q, 3195del6, 1678del > T, 124del123bp, 3121-3113 A > T). The most frequent alleles were p.Phe508del, p.Gly542*, p.Arg334Trp, and p.Ser549Arg. CONCLUSIONS: Malnutrition and electrolyte imbalances were the most frequent phenotypes for children < 2 years and were associated with genotypes including 2 class I-III variants. Rare and previously undescribed variants were identified. The p.Gly542*, p.Arg334Trp, and p.Ser549Arg alleles were among the most frequent variants in this population.

Using Arts-Based Methodologies to Understand Adolescent and Youth Manifestations, Representations, and Potential Causes of Depression and Anxiety in Low-Income Urban Settings in Peru.

BACKGROUND: Arts-based methodologies can be beneficial to identify different representations of stigmatized topics such as mental health conditions. This study used a theater-based workshop to describe manifestations, representations, and potential causes of depression and anxiety as perceived by adolescents and young adults. METHODS: The theater company Teatro La Plaza conducted three online sessions with a group of adolescents and another with a group of young adults from Lima, Peru. The artistic outputs, which included images, similes, monologues, and narrations, were used to describe the experiences of depression and anxiety symptoms following a content analysis using posteriori categories. RESULTS: Seventeen participants joined the sessions. The artistic outputs showed: physical, behavioral, cognitive, and emotional manifestations of depression and anxiety; a perception that both disorders have a cyclical nature; and an awareness that it is often difficult to notice symptom triggers. The mandatory social isolation due to the COVID-19 pandemic was highlighted as an important symptom trigger, mostly linked to anxiety. CONCLUSIONS: The findings are consistent with the literature, especially with regard to the manifestations, representations, and potential causes that trigger depression and anxiety. Using arts-based methods allowed adolescents and young adults to expand the articulation of their representations of mental disorders.

Factor structure and measurement invariance of the psychosocial risk factors inventory of NOM-035-STPS-2018.

The primary objective of this study was to analyze the psychometric properties of the Inventory for the Identification and Analysis of Psychosocial Risk Factors (IIA-PRF) of Reference Guide III proposed in NOM-035-STPS-2018. A total of 2,149 workers in Baja California, Mexico's industrial and education-government sectors, were administered an online inventory version. Preliminary analyses were performed, as well as a Confirmatory Factor Analysis (CFA) based on two models proposed by the standard itself: an eight-factor model (8-FM) and a four-factor model (4-FM). Likewise, based on the results and with the recommendations of the specialists, a threefactor model (3-FM) was proposed. In addition, nested model sequencing methods were subsequently applied to validate the invariance between the origin of the activity. The dimensionality of 3-FM was found to have adequate fit values according to a-priori established criteria. It is concluded that the IIAPRF does not have the reliability and validity parameters necessary to support interpretations, uses and consequences based on the theoretical structure established by NOM-035-STPS-2018 and that, although the 3-FM presents better reliability and validity indices, it is not invariant in terms of the origin of the activity. Finally, we discuss the implications and recommend reviewing and adjusting the design of the IIAPRF items to extend the measurement of invariance to other groups of relevance for decision making in the improvement of the work environment.

Microbial community composition and trophic role along a marked salinity gradient in Laguna Puilar, Salar de Atacama, Chile.

The geological, hydrological and microbiological features of the Salar de Atacama, the most extensive evaporitic sedimentary basin in the Atacama Desert of northern Chile, have been extensively studied. In contrast, relatively little attention has been paid to the composition and roles of microbial communities in hypersaline lakes which are a unique feature in the Salar. In the present study biochemical, chemical and molecular biological tools were used to determine the composition and roles of microbial communities in water, microbial mats and sediments along a marked salinity gradient in Laguna Puilar which is located in the "Los Flamencos" National Reserve. The bacterial communities at the sampling sites were dominated by members of the phyla Bacteroidetes, Chloroflexi, Cyanobacteria and Proteobacteria. Stable isotope and fatty acid analyses revealed marked variability in the composition of microbial mats at different sampling sites both horizontally (at different sites) and vertically (in the different layers). The Laguna Puilar was shown to be a microbially dominated ecosystem in which more than 60% of the fatty acids at particular sites are of bacterial origin. Our pioneering studies also suggest that the energy budgets of avian consumers (three flamingo species) and dominant invertebrates (amphipods and gastropods) use minerals as a source of energy and nutrients. Overall, the results of this study support the view that the Salar de Atacama is a heterogeneous and fragile ecosystem where small changes in environmental conditions may alter the balance of microbial communities with possible consequences at different trophic levels.

[Considerations on the development of nutrition-related guidelines by the World Health Organization and their implementation]. / Consideraciones sobre la elaboración de las directrices de nutrición de la Organización Mundial de la Salud y su implementación.

The World Health Organization (WHO) follows a complex and rigorous process to develop global guidelines. With regard to nutrition-related guidelines, the joint participation of national authorities from Member States and their partners, including those of the social economy, is key to strengthening the process of evidence-informed guideline development and the subsequent implementation as part of national public health strategies. WHO puts forward a series of tools that can assist national authorities on health and social development in the elaboration of evidence-informed policies, considering their pertinence, relevance and implementability. This adoption and adaptation process must consider equity in order to avoid widening existing inequities. WHO global nutrition guidelines contribute to the effective implementation of nutrition interventions in Member States. Two experiences of implementation, one in Panama and one in Peru, exemplify this process. The paper ends by suggesting a deeper understanding and utilization of implementation research during programmes to identify what factors ensure effective interventions, appropriate scale up strategies and greater health equity.

Consideraciones sobre la elaboración de las directrices de nutrición de la Organización Mundial de la Salud y su implementación / Considerations on the development of nutrition-related guidelines by the World Health Organization and their implementation

La Organización Mundial de la Salud (OMS) sigue un proceso complejo y riguroso para la elaboración de directrices mundiales. En el caso de las directrices relacionadas con nutrición, la participación conjunta de las autoridades de los Estados Miembros de la OMS y sus aliados, incluidos aquellos de la economía social y solidaria, es clave para fortalecer el proceso de elaboración de directrices informadas por las pruebas científicas y su posterior implementación, como parte de las estrategias nacionales de salud pública. Para las autoridades en materia de salud y desarrollo social, la OMS desarrolla una serie de herramientas para la formulación de políticas informadas por las pruebas científicas, considerando su pertinencia, relevancia e implementabilidad. Este proceso de adopción y adaptación debe considerar aspectos de equidad, para evitar la ampliación de brechas en salud. Las directrices mundiales de la OMS contribuyen a que las intervenciones en nutrición en sus Estados Miembros sean implementadas de manera adecuada. Dos experiencias de implementación de intervenciones en nutrición, una en Panamá y otra en Perú, ejemplifican este proceso. El artículo concluye sugiriendo profundizar en el conocimiento y aplicación de la investigación de la implementación de programas para identificar los factores que permiten a una intervención ser efectiva, tener una mejor estrategia de escalabilidad y contribuir a la equidad en salud.

The World Health Organization (WHO) follows a complex and rigorous process to develop global guidelines. With regard to nutrition-related guidelines, the joint participation of national authorities from Member States and their partners, including those of the social economy, is key to strengthening the process of evidence-informed guideline development and the subsequent implementation as part of national public health strategies. WHO puts forward a series of tools that can assist national authorities on health and social development in the elaboration of evidenceinformed policies, considering their pertinence, relevance and implementability. This adoption and adaptation process must consider equity in order to avoid widening existing inequities. WHO global nutrition guidelines contribute to the effective implementation of nutrition interventions in Member States. Two experiences of implementation, one in Panama and one in Peru, exemplify this process. The paper ends by suggesting a deeper understanding and utilization of implementation research during programmes to identify what factors ensure effective interventions, appropriate scale up strategies and greater health equity.

Kwashiorkor e distúrbio de coagulação: apresentação atípica de fibrose cística / Kwashiorkor and coagulation disturbance: atypical presentation of cystic fibrosis

Enfatizar a apresentação clínica precoce da fibrose cística (FC) em lactente com Kwashiorkor e distúrbio de coagulação, decorrente de hipovitaminose K. DESCRIÇÃO DO CASO: Paciente com três meses e meio, sexo feminino, nascida a termo, peso de 2655g, estatura de 46cm, foi encaminhada para investigação de lesões perineais associadas à monilíase de difícil controle, refratária a diversos antifúngicos e corticoides. Quadro geral caracterizado por baixo ganho ponderal, edema e diarreia. Admissão hospitalar para investigação com hipótese diagnóstica de Kwashiorkor de origem primária ou secundária. Paciente mantida em aleitamento materno exclusivo, sendo observadas perda ponderal e persistência da diarreia. Na internação, foi iniciado tratamento de infecção do trato urinário. A paciente evoluiu com hemorragia digestiva alta e sangramento pela flebotomia em safena direita, sendo identificada coagulopatia responsiva à vitamina K e plasma fresco congelado. Na evolução, foi confirmada esteatorreia e hipoalbuminemia; as sorologias para sífilis, toxoplasmose, mononucleose, citomegalovírus, rubéola, HIV e hepatite B, apresentaram resultado negativo e a pesquisa da mutação ∆F508 heterozigoto para FC foi positiva. A paciente apresentou piora do estado geral com sinais de sepse, evoluindo para óbito. O laudo necroscópico evidenciou elementos característicos de choque séptico com infecção pulmonar, sinais acentuados de desnutrição e fibrose cística do pâncreas. COMENTÁRIOS: A FC pode manifestar-se com quadro de Kwashiorkor e distúrbio de coagulação por deficiência de vitamina K. Os profissionais de saúde devem estar atentos à possibilidade de FC no diagnóstico diferencial dessa situação.

To address the clinical presentation of cystic fibrosis (CF) in an infant presenting Kwashiorkor along with coagulation disturbance due to vitamin K deficiency. CASE DESCRIPTION: A female baby aged three and a half months, born at term, with birth weight of 2655g, and height of 46cm, was referred to a university center due to perineal moniliasis refractory to therapy, including antifungal drugs and corticosteroids. She had poor weight gain, edema, and diarrhea. After hospital admission under the diagnostic hypothesis of Kwashiorkor of primary or secondary origin, the child received exclusive breastfeeding, but lost weight and maintained the diarrhea. At admission, a urinary tract infection was detected and treated. The child developed bleeding of upper digestive tract and phlebotomy incision at the right saphenous vein treated with vitamin K and fresh frozen plasma. Laboratory exams showed steatorrhea and hypoalbuminemia. Serology was negative for syphilis, toxoplasmosis, mononucleosis, cytomegalovirus, rubella, HIV and hepatitis B. Heterozygous ∆F508 mutation for CF was positive. The patient died with a septic shock. Necropsy showed that the septic shock had a pulmonary origin and that malnutrition was secondary to cystic fibrosis of pancreas. COMMENTS: CF may have a clinical presentation as Kwashiorkor with coagulation disturbance caused by vitamin K deficiency. Health professionals should be aware of this possibility in the differential diagnosis of infants with severe malnutrition and edema.

Uso de octreotida na hemorragia digestiva alta secundária à hipertensão portal em pacientes pediátricos: experiência de um serviço terciário / Octreotide for acute gastrointestinal bleeding secondary to portal hypertension in pediatric patients: experience of a tertiary center

OBJETIVO: Descrever a evolução clínica dos episódios de hemorragia digestiva em crianças portadoras de hipertensão portal, com e sem cirrose, tratadas com octreotida. MÉTODOS: Estudo retrospectivo e descritivo de 26 episódios de sangramento digestivo em 17 pacientes (média de idade: 8,6 anos; variação: sete meses a 18,9 anos), no período de 1998 a 2006, num hospital terciário universitário. O diagnóstico de hipertensão portal foi estabelecido por ultrassonografia e a cirrose foi confirmada pela histologia e classificada quanto à gravidade pelo escore de Child-Pugh. RESULTADOS: As causas da hipertensão portal foram: obstrução extra-hepática da veia porta em 11/17 casos (65 por cento) e cirrose hepática em 6/17 (35 por cento). O sangramento foi controlado em 14/17 pacientes (82 por cento). O tempo de infusão da droga necessário para controle do sangramento foi semelhante entre cirróticos e não cirróticos, mas o declínio nos níveis de hemoglobina, o volume transfusional requerido e o tempo de internação foram maiores nos pacientes com cirrose, embora sem diferença estatística. Essas mesmas variáveis não se modificaram em relação aos dois diferentes esquemas de infusão da droga: com dose de ataque ou iniciando com dose de manutenção. Insucesso terapêutico foi observado com maior frequência entre os pacientes cirróticos (33 por cento). Hiperglicemia foi o único efeito colateral detectado durante a infusão. CONCLUSÕES: A administração de octreotida em crianças e adolescentes com sangramento digestivo por hipertensão portal foi segura e efetiva no controle do sangramento agudo, independente da causa da hipertensão portal e do esquema de infusão.

OBJECTIVE:To describe clinical data of children and adolescents with portal hypertension, during with and without liver cirrhosis, treated with octreotide during episodes of acute upper gastrointestinal bleeding. METHODS: Retrospective and descriptive study of 26 episodes of gastrointestinal bleeding in 17 patients (mean age: 8.6 years; range: seven months to 18.9 years) assisted at a tertiary university hospital from 1996 to 2006. Portal hypertension diagnosis was based on ultrasonography. Liver cirrhosis was confirmed by histology and hepatic function was classified according the Child-Pugh score. RESULTS: Portal hypertension etiology was extra-hepatic portal vein obstruction in 11/17 (65 percent) patients and cirrhosis in 6/17 (35 percent). Bleeding was controlled in 14/17 (82 percent) patients. Octreotide infusion requirement was similar in cirrhotic and non-cirrhotic patients, but the decline in hemoglobin levels and the requirement of blood transfusions were greater but not significant in cirrhotic patients. The patients' responses were similar regardless of drug infusion strategy. Whether it included a loading dose or not. Treatment failure was observed mainly among cirrhotic patients (33 percent). Hyperglycemia was the only side effect detected during octreotide infusion. CONCLUSIONS: Octreotide administration in children and adolescents with digestive bleeding due to portal hypertension was safe and effective in order to control the acute episode of bleeding, regardless of the etiology of portal hypertension and infusion strategy.