Menstrual characteristics and associations with sociodemographic factors and self-rated health in Spain: a cross-sectional study.

BACKGROUND: Evidence on how menstrual characteristics may differ based on socioeconomic factors and self-rated health is significantly scarce. The main aim of this study was to investigate the associations between menstrual characteristics, sociodemographic factors and self-rated health among women and people who menstruate (PWM) aged 18-55 in Spain. METHODS: This cross-sectional study includes data from an online survey collected in March-July 2021 across Spain. Descriptive statistical analyses and multivariate logistic regression models were performed. RESULTS: The analyses included a total of 19,358 women and PWM. Mean age at menarche was 12.4 (SD = 1.5). While 20.3% of our participants experienced a menstrual abundance over 80 ml, 64.1% reported having menstrual blood clots; 6.4% menstruated for longer than 7 days. 17.0% had menstrual cycles that were shorter than 21 days or longer than 35 days. Reports of moderate (46.3%) and high (22.7%) intensity menstrual pain were common. 68.2% of our participants experienced premenstrual symptoms in all or most cycles. The odds for lighter menstrual flow, shorter bleeding days and menstrual cycles were higher as age increased, and amongst participants with less educational attainment. Caregivers presented higher odds for abundant menstrual flow and longer menstruations. Reporting financial constraints and a poorer self-rated health were risk factors for abundant menstrual flow, menstrual blood clots, shorter/longer menstruations and menstrual cycles, premenstrual symptoms, moderate and intense menstrual pain. CONCLUSIONS: This study suggests that age, educational attainment, caregiving, experiencing financial hardship and a poorer self-rated health may shape or mediate menstrual characteristics. It thus highlights the need to investigate and address social inequities of health in menstrual research.

Perspectives on menstrual policymaking and community-based actions in Catalonia (Spain): a qualitative study.

BACKGROUND: Menstrual research and policymaking have become imperative worldwide. It is necessary that these are informed by women and people who menstruate (PWM) alongside expert professionals and activists. METHODS: The main aim of this study was to identify and propose policies and community-based actions to address menstrual inequity and promote menstrual health in Catalonia (Spain). This study consisted of two qualitative studies: (a) 34 individual photoelicitation interviews with women and PWM, (b) a World Café study with 22 professionals and activists. Sampling for both studies was purposive and selective. Recruitment was conducted through healthcare centres, social media, key contacts, and snowball sampling techniques. Data were collected in December 2020-September 2022, and analysed using Framework Analysis. RESULTS: Participants considered the implementation of menstrual policies that address the taboo and stigma of menstruation to be crucial. They stressed the need for menstrual education, which should be integrated into formal education curricula. Participants, and especially women and PWM, highlighted the need to improve the access and quality of healthcare services, so that the menstrual cycle and menstruation are seen as health indicators. Health professionals should encourage agentic informed decisions, hence why both participant groups considered menstrual health education amongst health professionals to be pivotal. Taking action to improve the access and affordability of menstrual products was also imperative for participants, especially for socioeconomically vulnerable populations. Participants agreed on guaranteeing fully equipped menstrual management facilities, and and professionals discussed gender-neutral and sex-segregated bathrooms. Workplace menstrual policies to accommodate and ensure menstrual self-care were also suggested. CONCLUSIONS: Our study highlights the need for multi-dimensional menstrual policies. These should include actions to address menstrual taboo and stigma, to promote menstrual education that goes beyond the hegemonic biomedical prism, to improve the access and quality of menstrual health services, along with policies ensuring adequate menstrual management facilities in public spaces and the access to menstrual products. Policymaking should also focus on how to ensure menstrual management and care in workplaces. Menstrual policies and community-based actions should be framed within intersectionality, to consider how societal structures of power and oppression influence menstrual experiences.

RESUMEN: INTRODUCCIóN: Siendo la investigación y la implementación de políticas menstruales imprescindibles, es necesario que estos procesos estén informados por mujeres y personas que menstrúan (PM), así como por profesionales expertas y activistas. MéTODOS: El objetivo principal de este estudio fue identificar y proponer políticas y acciones comunitarias para abordar la inequidad menstrual y promover la salud menstrual en Cataluña (España). Este estudio consistió en dos estudios cualitativos: (a) 34 entrevistas individuales de fotoelicitación con mujeres y PM, (b) un World Café con 22 profesionales y activistas. El muestreo para ambos estudios fue intencional y selectivo. El reclutamiento se realizó a través de centros de salud, redes sociales, contactos clave y técnicas de bola de nieve. Los datos se recogieron entre diciembre de 2020 y septiembre de 2022 y se analizaron mediante Framework Analysis. RESULTADOS: Las participantes consideraron crucial la implementación de políticas menstruales para abordar el tabú y el estigma menstrual. Destacaron la necesidad de una educación menstrual, que debería integrarse en los currículums escolares. Las participantes, y especialmente las mujeres y PM, resaltaron la necesidad de mejorar el acceso y la calidad de los servicios de salud, de manera que el ciclo menstrual y la menstruación sean consideradas indicadores de salud. Mencionaron que el personal sanitario debe fomentar las decisiones informadas, de ahí que ambos grupos de participantes consideraran fundamental la educación sobre la salud menstrual entre los profesionales de la salud. También, para las participantes fue imperativo asegurar el acceso y asequibilidad de productos menstruales, especialmente para las poblaciones socioeconómicamente vulnerabilizadas. Las participantes estuvieron de acuerdo en la necesidad de garantizar espacios equipadas para el manejo menstrual, y se llevaron a cabo debates entre las profesionales sobre los baños inclusivos y segregados por sexo. También se sugirieron y debatieron políticas menstruales en entornos laborales, para adaptar y garantizar el autocuidado menstrual. CONCLUSIONES: Nuestro estudio destaca la necesidad de políticas menstruales multidimensionales. Estas deberían incluir acciones para abordar el tabú y el estigma menstrual, promover una educación menstrual que vaya más allá de la perspectiva biomédica hegemónica, mejorar el acceso y la calidad de los servicios de salud menstrual, junto con políticas para garantizar la disponibilidad de instalaciones adecuadas para el manejo menstrual en espacios públicos, así como el acceso a productos menstruales. La creación de políticas también debería centrarse en cómo garantizar el manejo y los cuidados menstruales en entornos laborales. Finalmente, estas políticas menstruales y acciones comunitarias deben enmarcarse desde la interseccionalidad, para considerar cómo las estructuras y poderes sociales operan e influyen en las experiencias menstruales.

Menstruation and social inequities in Spain: a cross-sectional online survey-based study.

BACKGROUND: Available research suggests that menstrual inequity has an impact on (menstrual) health outcomes and emotional wellbeing. It is also a significant barrier to achieve social and gender equity and compromises human rights and social justice. The aim of this study was to describe menstrual inequities and their associations with sociodemographic factors, among women and people who menstruate (PWM) aged 18-55 in Spain. METHODS: A cross-sectional survey-based study was conducted in Spain between March and July 2021. Descriptive statistical analyses and multivariate logistic regression models were performed. RESULTS: A total of 22,823 women and PWM were included in the analyses (Mean age = 33.2, SD = 8.7). Over half of the participants had accessed healthcare services for menstruation (61.9%). The odds for accessing menstrual-related services were significantly higher among participants with university education (aOR: 1.48, 95% CI, 1.13-1.95). Also, 57.8% reported having had partial or no menstrual education pre-menarche, with odds being higher among participants born in non-European or Latin American countries (aOR: 0.58, 95% CI, 0.36-0.93). Lifetime self-reported menstrual poverty was between 22.2-39.9%. Main risk factors for menstrual poverty were identifying as non-binary (aOR: 1.67, 95% CI, 1.32-2.11), being born in non-European or Latin American countries (aOR: 2.74, 95% CI, 1.77-4.24), and not having a permit to reside in Spain (aOR: 4.27, 95% CI, 1.94-9.38). Completed university education (aOR: 0.61, 95% CI, 0.44-0.84) and no financial hardship < 12 months (aOR: 0.06, 95% CI, 0.06-0.07) were protective factors for menstrual poverty. Besides, 75.2% reported having overused menstrual products due to lack of access to adequate menstrual management facilities. Menstrual-related discrimination was reported by 44.5% of the participants. Non-binary participants (aOR: 1.88, 95% CI, 1.52-2.33) and those who did not have a permit to reside in Spain (aOR: 2.11, 95% CI, 1.10-4.03) had higher odds of reporting menstrual-related discrimination. Work and education absenteeism were reported by 20.3% and 62.7% of the participants, respectively. CONCLUSIONS: Our study suggests that menstrual inequities affect a high number of women and PWM in Spain, especially those more socioeconomically deprived, vulnerabilised migrant populations and non-binary and trans menstruators. Findings from this study can be valuable to inform future research and menstrual inequity policies.

RESUMEN: INTRODUCCIóN: Investigación previa disponible indica que la inequidad menstrual tiene un impacto en los resultados de salud (menstrual) y en el bienestar emocional. Es también una barrera para la equidad social y de género. El objetivo de este estudio es evaluar la inequidad menstrual y las asociaciones con factores sociodemográficos, en mujeres y personas que menstrúan entre 18-55 años en España. MéTODOS: Este es un estudio transversal, basado en una encuesta, llevado a cabo en España entre marzo y julio de 2021. Se realizaron análisis descriptivos y modelos de regresión logística multivariados.  RESULTADOS: Los análisis se realizaron con los datos de 22,823 mujeres y personas que menstrúan. Más de la mitad de las participantes habían accedido a servicios sanitarios para la menstruación (60.5%). La probabilidad de acceder a servicios sanitarios para la menstruación fue significativamente más alta en participantes con educación universitaria (aOR: 1.48, 95% CI, 1.13-1.95). El 57.8% informó no haber tenido educación menstrual o que ésta fuera parcial, pre-menarquia; la probabilidad fue más alta en participantes que no habían nacido en países europeos o latinoamericanos (aOR: 0.58, 95% CI, 0.36-0.93). La pobreza menstrual durante el ciclo vital se reportó en el 22.2-39.9% de las participantes. Los principales factores de riesgo fueron identificarse como persona no binaria (aOR: 1.67, 95% CI, 1.32-2.11), nacer en países fuera de Europa o Latinoamérica (aOR: 2.74, 95% CI, 1.77-4.24), y no tener papeles para residir en España (aOR: 4.27, 95% CI, 1.94-9.38). Tener estudios universitarios (aOR: 0.61, 95% CI, 0.44-0.84) y no haber reportado problemas económicos en los últimos 12 meses (aOR: 0.06, 95% CI, 0.06-0.07) fueron factores protectores para la pobreza menstrual. Además, el 74.6% indicó haber sobreutilizado productos menstruales por no haber tenido acceso a espacios adecuados para el manejo menstrual. El 42.6% de las participantes comunicaron experiencias de discriminación menstrual. Participantes no binarios (aOR: 1.88, 95% CI, 1.52-2.33) y aquellas que no tenían papeles (aOR: 2.11, 95% CI, 1.10-4.03) presentaron una mayor probabilidad de indicar discriminación menstrual. El absentismo laboral y escolar fue indicado por el 18.3% y el 56.6% de las participantes respectivamente. CONCLUSIONES: Nuestro estudio sugiere que la inequidad menstrual afecta a un número significativo de mujeres y personas que menstrúan en España y, especialmente, a aquellas en situaciones de mayor deprivación socioeconómica, algunos colectivos vulnerabilizados de personas migradas, y a personas no binarias y trans que menstrúan. Los resultados de este estudio pueden ser útiles para investigación futura, así como para el desarrollo de políticas públicas de equidad menstrual.

Experiences of menstrual inequity and menstrual health among women and people who menstruate in the Barcelona area (Spain): a qualitative study.

INTRODUCTION: Menstrual health and menstrual inequity have been neglected in social, economic, healthcare and political spheres. Although available evidence is scarce, it already suggests a link between experiencing menstrual inequity (which refers to the systematic disparities in accessing menstrual health and education, menstrual products and spaces for menstrual management, among other aspects) and menstrual health outcomes. The aim of this study was to explore experiences of menstrual health and menstrual inequity among women and people who menstruate aged 18-55 in Barcelona and surrounding areas (Spain). METHODS: A qualitative study, using a critical feminist perspective, was conducted. Sampling was purposeful and selective. Recruitment was through sexual and reproductive health centres, social media and snowball sampling techniques. Thirty-four semi-structured photo-elicitation interviews were conducted between December 2020 and February 2021. Interviews took place in sexual and reproductive health centres, public spaces, and by telephone. Data were analysed using Reflexive Thematic Analysis. RESULTS: Three themes were identified: "Systemic neglect of menstruation and the menstrual cycle", "When "the private" becomes public: menstrual management" and "Navigating menstrual health: between medicalization and agency". Experiences of menstrual inequity appeared to be widespread among participants. They referred to the impact of having to conceal menstruation and the barriers to managing menstruation in public spaces. Choosing menstrual products was often influenced by price and availability; several participants reported menstrual poverty. A general lack of menstrual education was described. Menstrual education was usually gained through personal experience and self-learnings, or through families and friends. Menstruation and the menstrual cycle had a significant impact on participants' day-to-day. Accessing and navigating the healthcare system was challenging, as participants mostly reported feeling dismissed and almost exclusively offered hormonal contraception as a panacea to address menstrual health. CONCLUSIONS: The impact of menstrual inequity appears to be far-reaching. Multidimensional structural policies should promote agency in individuals and communities to enable opportunities for menstrual education, access to menstrual products, healthcare services and adequate menstrual-management facilities. Health professionals' training is also necessary to improve access to and quality of menstrual healthcare. Policies need to be inclusive of non-binary and trans people, and vulnerable populations.

Chronic granulomatous disease. Diagnosis by the dihydrorhodamine assay. / Enfermedad granulomatosa crónica. Diagnóstico mediante el ensayo de dihidrorodamina.

INTRODUCTION: Chronic granulomatous disease (CGD) is characterized by an alteration of the neutrophil oxidative function. Its inheritance patterns are linked to the X chromosome (X-linked CGD) and autosomal recessive (AR CGD). The dihydrorhodamine (DHR) assay is used for the diagnosis and detection of carriers and provides information on inheritance patterns. OBJECTIVE: To detect CGD cases in chil dren with recurrent infections and to evaluate their female relatives through the DHR assay to iden tify carriers and obtain information about possible inheritance patterns. PATIENTS AND METHOD: 107 patients (<18 years of age) with clinical suspicion of CGD such as pneumonia, lymphadenopathies, and abscesses were included, referred by physicians from public hospitals between 2014 and 2017. Six female relatives of children with CGD were also included. The DHR assay was performed on all patient samples and the results were expressed as neutrophils stimulation index (SI). RESULTS: The median age of patients was 3 years and 62/107 of them were male. The average SI was 39.7±13.8 and a complete shift of DHR was found in 101/107 children. In 2/107 children, no DHR shift was observed (SI=1.0) indicating possible X-linked CGD, and a third child showed a slight DHR shift (SI=4.8) compatible with AR CGD. 5/6 female relatives presented a bimodal pattern, showing a carrier status. CONCLUSIONS: Three cases of CGD and five female carriers were detected through the DHR assay, being the first time that this technique was used in Paraguay. Information on the most likely inheri tance patterns, two X-linked CGD, and one AR CGD case was also obtained.

C1q and HBHA-specific IL-13 levels as surrogate plasma biomarkers for monitoring tuberculosis treatment efficacy: a cross-sectional cohort study in Paraguay.

Introduction: New diagnostic tools are needed to rapidly assess the efficacy of pulmonary tuberculosis (PTB) treatment. The aim of this study was to evaluate several immune biomarkers in an observational and cross-sectional cohort study conducted in Paraguay. Methods: Thirty-two patients with clinically and microbiologically confirmed PTB were evaluated before starting treatment (T0), after 2 months of treatment (T1) and at the end of treatment (T2). At each timepoint plasma levels of IFN-y, 17 pro- and anti-inflammatory cytokines/chemokines and complement factors C1q, C3 and C4 were assessed in unstimulated and Mtb-specific stimulated whole blood samples using QuantiFERON-TB gold plus and recombinant Mycobacterium smegmatis heparin binding hemagglutinin (rmsHBHA) as stimulation antigen. Complete blood counts and liver enzyme assays were also evaluated and correlated with biomarker levels in plasma. Results: In unstimulated plasma, C1q (P<0.001), C4 (P<0.001), hemoglobin (P<0.001), lymphocyte proportion (P<0.001) and absolute white blood cell count (P=0.01) were significantly higher in PTB patients at baseline than in cured patients. C1q and C4 levels were found to be related to Mycobacterium tuberculosis load in sputum. Finally, a combinatorial analysis identified a plasma host signature comprising the detection of C1q and IL-13 levels in response to rmsHBHA as a tool differentiating PTB patients from cured TB profiles, with an AUC of 0.92 (sensitivity 94% and specificity 79%). Conclusion: This observational study provides new insights on host immune responses throughout anti-TB treatment and emphasizes the role of host C1q and HBHA-specific IL-13 response as surrogate plasma biomarkers for monitoring TB treatment efficacy.

[Leucocyte adhesion deficiency: detection of the first cases in Paraguay]. / Deficiencia de adhesión leucocitaria: detección de los primeros casos en Paraguay.

OBJECTIVE: To implement the diagnostic technique for LAD by evaluating the expression of CD18 and CD15 in healthy patients and in a group with clinical suspicion. METHODS: Observational, descriptive, and cross-secctional study, carried out in pediatric patients attended in the Instituto de Investigaciones en Ciencias de la Salud, and patients from public hospitals with clinical suspicion of LAD were studied. The molecules CD18 and CD15 in peripheral blood leukocytes was evaluated by flow cytometry, establishing a normal range in healthy patients. The presence of LAD was established by decreased expression of CD18 or CD15. RESULTS: Sixty pediatric patients were evaluated: 20 apparently healthy and 40 with clinical suspicion of leukocyte adhesion deficiency; 12 of 20 healthy patients were male (median age: 14 years) and 27 of 40 with suspected disease were female (median age: 2 years). Persistent leukocytosis and respiratory tract (32%) infections predominated. The expression range of CD18 and CD15 in healthy patients was 95%-100%, and in patients with clinical suspicion it was 0%-100%. One patient with 0% of CD18 (LAD-1) and one patient with 0% of CD15 (LAD-2) were detecte. CONCLUSIONS: The implementation of a new diagnostic technique allowed to establish a normal range of CD18 and CD15 by flow cytometry, and it was possible to detect the first two cases of LAD in Paraguay.

OBJECTIVO: Implementar la técnica diagnóstica para deficiencia de adhesión leucocitaria mediante la evaluación de la expresión de CD18 y CD15 en pacientes sanos y con sospecha clínica de la enfermedad. MÉTODOS: Estudio observacional, descriptivo y transversal, llevado a cabo en pacientes pediátricos sanos que acudieron al Instituto de Investigaciones en Ciencias de la Salud y pacientes de hospitales públicos con sospecha clínica de deficiencia de adhesión leucocitaria. Se evaluaron las moléculas CD18 y CD15 en leucocitos periféricos por citometría de flujo, con la intención de estadarizar un rango normal en pacientes sanos. Se estableció el diagnóstico de deficiencia de adhesión lecuocitaria, según la expresión disminuida de CD18 o CD15. RESULTADOS: Se evaluaron 60 pacientes pediátricos: 20 aparentemente sanos y 40 con sospecha clínica de deficiencia de adhesión leucocitaria; 12 de 20 pacientes sanos fueron varones (mediana de edad: 14 años) y 27 de 40 con sospecha de la enfermedad fueron mujeres (mediana de edad: 2 años). Predominaron la leucocitosis persistente y las infecciones respiratorias (32%). La expresión de CD18 y CD15 en pacientes sanos fue del 95-100% y en pacientes con sospecha de deficiencia de adhesión leucocitaria de 0-100%. Se identificó una paciente con 0% de expresión de CD18 (LAD-1) y otro con 0% de CD15 (LAD-2). CONCLUSIONES: La evaluación de las moléculas CD18 y CD15 permitió detectar los primeros casos de deficiencia de adhesión leucocitaria en Paraguay, que sirve de precedente y pone a punto la técnica para el diagnóstico de la enfermedad a nivel local.

Stratification of Risk Factors of Complications Associated with Peritoneal Dialysis Catheter Placement.

Background: Peritoneal dialysis (PD) is a frequent method for renal replacement therapy in pediatric population. However, PD is associated with a high incidence of early and late complications. Thus, this study aims to evaluate the perioperative factors associated with these complications. Methods: Clinical records of patients who had peritoneal dialysis catheter (PDC) placement between January 2013 and June 2016 were retrospectively analyzed. Sociodemographic and perioperative variables were recorded and analyzed. Results: A total of 92 patients required PDC insertion. Primary PDC failure occurred in 21.74% of cases, and 17.39% required reoperation. The most common complication was occlusion (13.04%), followed by leak (8.7%). Age younger than 1 year and weight less than 10 kg were significant risk factors for catheter dysfunction, reoperation, leak, PDC occlusion, hernia, and death. The open technique was associated with higher risks of operation, leak, and peritonitis than the laparoscopic technique. Placement of the catheter by the laparoscopic technique reduced the odds of occlusion by 38%. Conclusions: Patients younger than 1 year and weighing less than 10 kg have an increased risk of complications and death, regardless of the technique used. The most frequent complication is catheter failure; however, the laparoscopic technique appears to reduce this complication.

Menstrual health and management during the COVID-19 syndemic in the Barcelona area (Spain): A qualitative study.

BACKGROUND: Available evidence suggests that menstrual health and management have been impaired during the COVID-19 syndemic. However, research in this area is scarce, and it is failing to voice the experiences of women and people who menstruate regarding their menstrual experiences. OBJECTIVES: This study aimed to explore the experiences of menstrual health and menstrual management among women and people who menstruate in the Barcelona area (Spain) during the COVID-19 syndemic. DESIGN: This is a qualitative study, conducted taking a critical feminist approach, is embedded in the 'Equity and Menstrual Health in Spain' project. METHODS: It includes photo-elicitation individual interviews with 34 women and people who menstruate in the area of Barcelona (Spain). Data were collected in person and through telephone calls between December 2020 and February 2021. Analyses were performed using Thematic Analysis. RESULTS: Main findings navigated through the menstrual changes experienced by some participants, especially women living with long COVID-19, and the barriers to access healthcare and menstrual products during COVID-19. While some participants experienced menstrual poverty, this did not appear to be exacerbated during COVID-19. Instead, access to menstrual products was compromised based on products' availability and mobility restrictions. Menstrual management and self-care were generally easier, given that menstrual experiences were almost exclusively relegated to private spaces during lockdown periods. CONCLUSIONS: Our findings highlight the need to further research and policy efforts towards promoting menstrual health and equity, considering social determinants of health, and taking intersectional and gender-based approaches. These strategies should be further encouraged in social and health crises such as the COVID-19 syndemic.

Use and perceptions on reusable and non-reusable menstrual products in Spain: A mixed-methods study.

BACKGROUND: Menstrual products are necessary goods for women and people who menstruate to manage menstruation. Understanding the use and perceptions of menstrual products is key to promote menstrual equity and menstrual health. This study aimed at assessing the use and perceptions on menstrual products among women and people who menstruate aged 18-55 in Spain. METHODS: A mixed-methods study was conducted, including a cross-sectional study (N = 22,823), and a qualitative study (N = 34). RESULTS: Participants used a combination of products. Non-reusable products were the most used, while over half used reusable products. Usage changed when data were stratified by age, gender identification, completed education, country of birth and experiencing financial issues. It also varied between trans and cis participants. Menstrual products' use also shifted based on experiences of menstrual poverty and access to information and products. Overall, reusable products were perceived to be more acceptable than non-reusable. Barriers to use the menstrual cup were also identified, including experiences of menstrual inequity (e.g., menstrual poverty, lack of access to information or menstrual management facilities). CONCLUSION: Perceptions and choices of menstrual products need to be acknowledged, especially when designing and implementing menstrual policies to address menstrual inequity and menstrual health.

Self-Reported Menstrual Alterations During the COVID-19 Syndemic in Spain: A Cross-Sectional Study.

Introduction: Available evidence suggests that there might be an association between the stressors experienced during the COVID-19 syndemic and changes in menstrual patterns. The aim of this study was to assess self-reported menstrual alterations during the COVID-19 syndemic among women and people who menstruate aged 18-55 in Spain. Materials and Methods: A cross-sectional online survey-based study was conducted (March-July 2021). Descriptive statistics were calculated and multivariate logistic regression models were constructed. This study was conducted as part of the "Equity and Menstrual Health in Spain" research project. Results: Among participants (N=17,455), 39.4% reported menstrual alterations since the start of the syndemic. Participants self-reporting long COVID-19 presented higher odds of menstrual alterations (aOR: 1.34, 95% CI, 1.15-1.57). In participants with no history of COVID-19, the risk for self-reported menstrual alterations was significantly higher based on employment situation, among participants experiencing financial issues (eg, financial issues always/many times <12 months: aOR: 1.68, 95% CI, 1.48-1.90), poorer self-perceived health (eg, poor: aOR: 2.00, 95% CI, 1.31-3.07), and those diagnosed with polycystic ovary syndrome (aOR: 1.13, 95% CI, 1.02-1.26). Among participants with a self-reported COVID-19 diagnosis, factors that significantly increased the odds for menstrual alterations were experiencing financial strains (eg, financial issues always/many times <12 months: aOR: 1.53, 95% CI, 1.09-2.14), poorer self-perceived health (eg, poor: aOR: 3.09, 95% CI, 1.01-9.52). Overall, factors that decreased the odds of reporting menstrual alterations included age >25, being a carer, not having a gynecological condition and using hormonal contraception. Discussion and conclusions: Findings suggest an impact of the COVID-19 syndemic on menstrual patterns. Social inequities in reporting menstrual alterations were identified. While the risk of reporting menstrual alterations was higher among participants with long COVID-19, evidence is not conclusive. Further research on menstrual health in the context of COVID-19 is needed, also to inform policy and practice.

Detección de deficiencias de anticuerpos y caracterización clínico-demográfica en pacientes pediátricos con enfermedades alérgicas

RESUMEN Introducción: Las deficiencias predominantes de anticuerpos (DPA) cursan con disminución de niveles séricos de inmunoglobulinas (hipogammaglobulinemia), infecciones recurrentes y se ha reportado su asociación con las alergias. La información sobre su frecuencia en niños alérgicos es limitada y en Paraguay no existen datos al respecto. Objetivo: Detectar DPA y establecer su frecuencia en pacientes pediátricos con enfermedades alérgicas atendidos en un hospital de referencia del país. Materiales y métodos: Fueron evaluados 64 pacientes pediátricos (1 a 17 años de edad) con diagnóstico de alergia, atendidos en la Unidad Pediátrica Ambulatoria-Especialidad Asma, Alergia e Inmunología del Hospital de Clínicas (periodo 2018-2019). Se midieron los niveles séricos de IgA, IgG e IgM por el método de inmunodifusión radial y se aplicaron criterios de diagnóstico fenotípico a los casos de hipogammaglobulinemia para definir la DPA. Resultados: La mediana de edad fue de 5 años (RIQ: 2 - 8), con predominio del sexo masculino (58%). Las alergias más frecuentes fueron asma (38%) y rinitis (34%), además predominaron las infecciones respiratorias recurrentes (80%). La frecuencia de DPA fue de 17% (11/64), detectándose 6 casos de deficiencia de inmunoglobulina A, 4 deficiencias aisladas de IgG y una inmunodeficiencia común variable. No se observaron diferencias significativas al comparar características clínico-demográficas entre pacientes alérgicos con y sin DPA. Conclusiones: La frecuencia de DPA fue elevada, por lo que se sugiere considerar el estudio de inmunoglobulinas séricas en pacientes pediátricos con enfermedades alérgicas para una detección y tratamiento oportunos.

ABSTRACT Introduction: Predominant antibody deficiencies (PAD) present with decreased serum levels of immunoglobulins (hypogammaglobulinemia), recurrent infections and their association with allergies has been reported. Information on its frequency in allergic children is limited and in Paraguay there are no data in this regard. Objective: To detect PAD and establish its frequency in pediatric patients with allergic diseases treated at a reference hospital in the country. Materials and methods: 64 pediatric patients (1 to 17 years of age) with a diagnosis of allergy, treated in the Pediatric Outpatient Unidad Pediátrica Ambulatoria-Especialidad Asma of the Hospital de Clínicas (from 2018 to 2019) were evaluated. Serum levels of IgA, IgG and IgM were measured by the radial immunodiffusion method and phenotypic diagnostic criteria were applied to hypogammaglobulinemia cases to define PAD. Results: The median age was 5 years (IQR: 2 - 8), with a predominance of males (58%). The most frequent allergies were asthma (38%) and rhinitis (34%), and recurrent respiratory infections (80%) predominated. The frequency of PAD was 17% (11/64), with 6 cases of immunoglobulin A deficiency detected, 4 isolated IgG deficiencies and a common variable immunodeficiency were also detected. No significant differences were observed when comparing clinical-demographic characteristics between allergic patients with and without PAD. Conclusions: The frequency of PAD was high, so we suggest considering serum immunoglobulins studies in pediatric patients with allergic diseases for timely detection and treatment.

Enfermedad granulomatosa crónica: diagnóstico mediante el ensayo de dihidrorodamina / Chronic granulomatous disease: diagnosis by the dihydrorhodamine assay

Resumen: Introducción: La enfermedad granulomatosa crónica (EGC) se caracteriza por una alteración de la función oxidativa de neutrófilos, presentando herencia ligada al cromosoma X (EGC LX) y autosómica recesiva (EGC AR). El ensayo de dihidrorodamina (DHR) es utilizado para el diagnóstico y detección de portadoras, además proporciona información sobre patrones de herencia. Objetivo: Detectar casos de EGC en niños con infecciones recurrentes y evaluar a sus familiares femeninos mediante el ensayo de DHR, para identificar portadoras y obtener información acerca de posibles patrones de herencia. Pacientes y Método: Fueron incluidos 107 pacientes (<18 años de edad) con sospecha clínica de EGC como neumonías, linfadenopatías y abscesos, remitidos por médicos de hospitales públicos, del 2014 al 2017. Además, se incluyeron seis mujeres, familiares de los niños con EGC. A las muestras de los pacientes se aplicó el ensayo DHR, expresando los resultados como índice de estimulación de neutrófilos (IE). Resultados: La mediana de edad de los pacientes fue de 3 años y 62/107 fueron varones. El IE promedio fue 39,7 ± 13,8 y 101/107 niños exhibieron un cambio completo de fluorescencia de DHR. En 2/107 niños no se observó dicho cambio (IE = 1,0), lo cual indica posible EGC LX, y un tercer niño mostró un leve cambio (IE = 4,8), compatible con EGC AR. En 5/6 mujeres se encontró un patrón bimodal, indicando un estado de portadora. Conclusiones: Fueron detectados tres casos de EGC y cinco portadoras mediante el ensayo de DHR, realizado por primera vez en Paraguay. También se obtuvo información sobre los posibles patrones de herencia, EGC LX en dos familias y un caso probable de EGC AR.

Abstract: Introduction: Chronic granulomatous disease (CGD) is characterized by an alteration of the neutrophil oxidative function. Its inheritance patterns are linked to the X chromosome (X-linked CGD) and autosomal recessive (AR CGD). The dihydrorhodamine (DHR) assay is used for the diagnosis and detection of carriers and provides information on inheritance patterns. Objective: To detect CGD cases in chil dren with recurrent infections and to evaluate their female relatives through the DHR assay to iden tify carriers and obtain information about possible inheritance patterns. Patients and Method: 107 patients (<18 years of age) with clinical suspicion of CGD such as pneumonia, lymphadenopathies, and abscesses were included, referred by physicians from public hospitals between 2014 and 2017. Six female relatives of children with CGD were also included. The DHR assay was performed on all patient samples and the results were expressed as neutrophils stimulation index (SI). Results: The median age of patients was 3 years and 62/107 of them were male. The average SI was 39.7±13.8 and a complete shift of DHR was found in 101/107 children. In 2/107 children, no DHR shift was observed (SI=1.0) indicating possible X-linked CGD, and a third child showed a slight DHR shift (SI=4.8) compatible with AR CGD. 5/6 female relatives presented a bimodal pattern, showing a carrier status. Conclusions: Three cases of CGD and five female carriers were detected through the DHR assay, being the first time that this technique was used in Paraguay. Information on the most likely inheri tance patterns, two X-linked CGD, and one AR CGD case was also obtained.

Niveles de IgA en adultos con enfermedad celíaca / IgA levels in adults with celiac disease

La enfermedad celíaca (EC) es una enfermedad autoinmune sistémica desencadenada por el consumo de gluten de la dieta en personas con susceptibilidad genética. Los principales test serológicos utilizados para el diagnóstico y seguimiento de la EC son pruebas basadas en anticuerpos de isotipo inmunoglobulina (Ig) A, siendo la determinación de IgA anti-transglutaminasa tisular (tTG)2 la prueba serológica inicial de elección. La deficiencia selectiva de IgA (DSIgA), es más prevalente en pacientes con EC que en la población general, dificultando el diagnostico serológico de la enfermedad. En el presente estudio observacional descriptivo, se incluyeron 74 pacientes adultos con diagnóstico confirmado de EC y se determinó IgA anti-tTG2 en suero mediante ensayo de ELISA a fin de detectar a aquellos pacientes con niveles indeterminados o negativos, los cuales podrían presentar DSIgA. Se dosó IgA total en el suero de estos pacientes por inmunodifusión radial y el promedio fue de 237,8 ± 100,6 mg/dL. En una paciente del sexo femenino fue detectada IgA total menor a 7 mg/dL, con niveles séricos de IgG e IgM normales, característicos de la DSIgA. Así, la frecuencia calculada de DSIgA fue de 1,35% en la población con EC estudiada. En conclusión, este trabajo es una primera aproximación para describir la frecuencia de DSIgA en pacientes con EC del país y reafirma la importancia de incluir el dosaje de IgA total en el caso de realizar test serológicos de la EC basados en IgA(AU)

Prevalence of organ-space surgical site infections after appendectomy for ruptured appendix in children / Prevalencia de la infección del sitio operatorio órgano-espacio en apendicitis perforada en niños

Abstract Introduction: Appendicitis can be classified as non-perforated and perforated; based on such classification, the reported organ-space surgical site infection (OS-SSI) rate is 0.8% and 18%, respectively. Objective: To establish the prevalence of OS-SSI in patients with perforated appendicitis treated in a pediatric hospital in 2012. Materials and methods: Retrospective, observational and descriptive study conducted at Fundación Hospital Pediátrico La Misericordia, with a random sample of200 patients, ofwhich 160 met the inclusion criteria. Results: 20 patients (12.5%) presented with OS-SSI and all of them received antibiotic treatment; 70% did not require abscess drainage. Patients ≥8 years of age had 5 times more abscesses than younger ones (17.6% vs. 3.4%). OS-SSI was found in 33% of patients with free fecalith and in 50% of the patients who required postoperative management at the ICU vs. 9.5% of the patients who received management in the intermediate care unit and the inpatient hospital floors. The total rate of surgical site infection was 24.3% (11.8% superficial, 0% deep and 12.5% organ-space). Conclusions: The prevalence of OS-SSI found here is lower than what has been reported in the literature. Being 8 years or older and having free fecalith are risk factors to develop this type of infection. The higher frequency of OS-SSI in patients treated at the ICU during the post-operative period observed here suggests that this condition may be associated with septic shock.

Resumen Introducción. La apendicitis se clasifica en no perforada y perforada; de acuerdo a esta clasificación, la tasa de infección del sitio operatorio órgano-espacio (ISO-OE) es de 0.8% y 18%, respectivamente. Objetivo. Determinar la prevalencia de ISO-OE en pacientes con apendicitis perforada en un hospital pediátrico en 2012. Materiales y métodos. Estudio retrospectivo y observacional descriptivo de corte transversal. La muestra fue aleatoria y de 200 pacientes, 160 cumplieron los criterios de inclusión. Resultados. Los 20 pacientes (12.5%) que presentaron ISO-OE recibieron manejo antibiótico; 70% no requirió drenaje de colección. Los pacientes ≥8 años presentaron 5 veces más ISO-OE (17.6% vs. 3.4%). El 33% de los pacientes con fecalito en cavidad y el 50% que se hospitalizó en post-operatorio inmediato en la unidad de cuidados intensivos (UCI) desarrollaron ISO-OE versus 9.5% de los pacientes atendidos en la unidad de cuidados intermedios y pisos. El total de ISO fue 24.3%: 11.8% superficial, 0% profunda y 12.5% de órgano-espacio. Conclusiones. La prevalencia de ISO-OE encontrada es menor a la reportada en la literatura. La edad ≥8 años y el fecalito en cavidad son factores de riesgo para desarrollar este tipo de infección. La mayor frecuencia de ISO-OE en pacientes manejados en el posoperatorio en UCI sugiere que esta condición puede estar asociada con el choque séptico.

Neonato con malformación de la vena de Galeno con diagnóstico oportuno: reporte de caso / Timely diagnosis of a Newborn wth Vein of Galen aneurysmal malformation: a case report

RESUMEN La malformación de la vena de Galeno a pesar de ser una patología poco frecuente representa un desafío clínico, por lo que debe ser detectada de forma temprana y manejada por un grupo multidisciplinario, iniciando desde los médicos generales quienes son los encargados de realizar el reconocimiento durante los controles prenatales, y así continuar el manejo de la mano de perinatólogos, pediatras, neonatólogos y radiólogos intervencionistas, todos ellos encargados de supervisar la evolución del paciente y dar tratamiento oportuno para mejorar el pronóstico de vida. A continuación, se presenta un caso clínico cuyo diagnóstico prenatal y manejo medico logró disminuir las complicaciones y comorbilidades resultantes, y así garantizar su preparación para una intervención endovascular posterior.

SUMMARY The vein of Galen malformation is a clinical challenge despite its low frequency, this disease must be detected early during the prenatal age and managed by a multidisciplinary group, beginning with the general physician in the antenatal medical appointment and later receiving treatment with perinatologists, pediatricians, neonatologists and interventional radiologists; all of this in order to ensure a better outcome and neurologic and systemic consequences. This report shows a female patient with an early and accurate antenatal diagnosis of vein of Galen malformation; during the postnatal period multidisciplinary approach and rationale medical management lowered the risk and possible complications, allowing the preparation for a late endovascular intervention.

Características clínicas y manifestaciones infecciosas en pacientes con Enfermedad Granulomatosa Crónica (EGC) en Paraguay

Introducción: La enfermedad granulomatosa crónica (EGC) es causada por un defecto en una de las subunidades de nicotinamida fosfato (NADPH) oxidasa, produciendo en los fagocitos una falla en la producción del superóxido. Como resultado, los pacientes presentan infecciones bacterianas y fúngicas recurrentes. Objetivos: analizar las características clínicas, manifestaciones infecciosas, los microrganismos aislados, así como la evolución de los pacientes que fueron diagnosticados en el Instituto de Medicina Tropical desde en el periodo 1991 - 2017. Materiales y Métodos: fueron incluidos pacientes con diagnóstico de EGC. Se revisaron los expedientes clínicos de pacientes con EGC hospitalizados, se determinaron las características clínico-demográficas, incluyendo la edad del inicio de las manifestaciones clínicas, edad de diagnóstico, antecedentes de consanguinidad en la familia, historia familiar de cuadros similares, manifestaciones clínicas, frecuencia de cuadros infecciosos, complicaciones asociadas a la vacuna BCG, días de hospitalización y evolución de la enfermedad. Resultados: se identificaron 11 pacientes (8 varones y 3 mujeres). Todos los pacientes pertenecían a 8 familias, se identificaron 2 familias con más de un miembro afectado (1 familia con 2 hermanas y otra con 2 primos y una tía afectados). Dos de los 11 pacientes tenían antecedentes de familiares con muerte prematura dentro de las 3 generaciones. La edad media de inicio de síntomas fue de 14.5±10,3 meses y al momento del diagnóstico de 32.4±25,06 meses. En un paciente se identificó antecedentes de consanguinidad, aunque todos recibieron la vacuna BCG, ninguno presento historia de becegeitis. La media de cuadros infecciosos que requirieron hospitalización fue de 3±1,7. Durante el periodo de estudio, los pacientes presentaron 38 cuadros infecciosos. Las infecciones pulmonares fueron las más frecuentemente observadas 42,1% (16/38), incluyendo las neumonías (9/38), absceso pulmonar (1/38), tuberculosis pulmonar (1/38) y bronquiolitis (14/38). Otros cuadros infecciosos que requirieron hospitalización fueron las sepsis 18,4% (7/38), uno de ellos con endocarditis, adenitis 13,2% (5/38), infecciones de piel y partes blandas 13,2% (5/38), meningitis bacteriana y osteomielitis 2,6% (1/38), respectivamente. En 19 de los cuadros infecciosos se aisló el microrganismo causante, siendo el más frecuente el S. aureus (n=9), pero en 10 casos se aisló un microrganismo inusual [Aspergillus (n = 4), Chromobacterium violaceum, Burkholderia cepacia, Enterobacter cloacae, Serratia marcescens, Mycobacterium tuberculosis (uno en cada caso]. El tiempo medio de hospitalización fue de 23,3±14,1 días y la mortalidad acumulada de 3/11. Conclusiones: Coincidente con otras series la mayoría de los casos de EGC, en Paraguay, se observó en varones, y la edad de inicio de síntomas fue antes de los 2 años de edad. El diagnóstico de la enfermedad fue relativamente precoz. El sitio infeccioso más frecuente fue el pulmonar, siendo el microorganismo más frecuentemente aislado el S. aureus, aunque se aislaron microorganismos inusuales en una proporción significativa. Es fundamental considerar esta ID en pacientes con cuadros infecciosos de evolución tórpida y por microorganismos inusuales.

Introduction: Chronic granulomatous disease (CGD) is caused by a defect in one of the subunits of nicotinamide phosphate (NADPH) oxidase, producing a failure in the production of superoxide in phagocytes. As a result, patients have recurrent bacterial and fungal infections. Objectives: to analyze the clinical characteristics, infectious manifestations, the isolated microorganisms, as well as the evolution of patients that were diagnosed at the Institute of Tropical Medicine from 1991 to 2017. Materials and Methods: patients with a diagnosis of CGD were included. Clinical records of hospitalized CGD patients were reviewed, clinical-demographic characteristics were determined, including the age of onset of clinical manifestations, age of diagnosis, family history of consanguinity, family history of similar conditions, clinical manifestations, frequency of infectious diseases, complications associated with the BCG vaccine, hospitalization days and disease evolution. Results: 11 patients were identified (8 men and 3 women). All the patients belonged to 8 families, 2 families were identified who had more than one affected member (1 family with 2 sisters and another with 2 affected cousins and one aunt). Two of the 11 patients had a family history of premature death within 3 generations. The mean age of symptom onset was 14.5 ± 10.3 months and age at the time of diagnosis was 32.4 ± 25.06 months. In one patient, a history of consanguinity was identified; although all patients received the BCG vaccine, none presented a history of BCG adenitis. The mean number of infectious cases that required hospitalization was 3 ± 1.7. During the study period, patients presented with 38 infectious conditions. Pulmonary infections were the most frequently observed 42.1% (16/38), including pneumonia (9/38), lung abscess (1/38), pulmonary tuberculosis (1/38) and bronchiolitis (14/38). Other infectious conditions that required hospitalization were sepsis 18.4% (7/38), one of them with endocarditis, adenitis 13.2% (5/38), skin and soft tissue infections 13.2% (5/38), bacterial meningitis and osteomyelitis 2.6% (1/38), respectively. In 19 of the infectious conditions, the causative microorganism was isolated, the most frequent being S. aureus (n = 9), but in 10 cases an unusual microorganism was isolated [Aspergillus (n = 4), Chromobacterium violaceum, Burkholderia cepacia, Enterobacter cloacae, Serratia marcescens, Mycobacterium tuberculosis (one in each case.)] The mean hospitalization time was 23.3 ± 14.1 days and the accumulated mortality of 3/11. Conclusions: Coinciding with other series, most cases of CGD in Paraguay were observed in males, and the age of onset of symptoms was before 2 years of age.The diagnosis of the disease was made relatively early. The most frequent infectious site were the lungs, with the microorganism most frequently isolated being S. aureus, although unusual microorganisms were isolated in a significant number of cases. It is essential to consider this diagnosis in patients with recurrent bouts of infectious conditions and caused by unusual microorganisms.

Deficiencias de anticuerpos en niños y adolescentes con infecciones recurrentes y/o graves

Introducción: Las deficiencias predominantes de anticuerpos (DPA) son inmunodeficiencias primarias caracterizadas por hipogammaglobulinemia, una disminución de niveles séricos de IgA, IgG y/o IgM, predisponiendo a infecciones recurrentes y/o graves. Las más frecuentes son la inmunodeficiencia común variable (CVID), agammaglobulinemia ligada al X (XLA), síndrome de híper IgM (HIgM) y deficiencia de IgA (DIgA). En Paraguay, los reportes sobre estas patologías son escasos. Objetivo: estudiar los niveles de inmunoglobulinas séricas en pacientes con infecciones recurrentes y/o graves en busca de DPA. Material y Métodos: Se incluyeron 143 pacientes de 1 a 17 años de edad, registrados en la base de datos del Instituto de Investigaciones en Ciencias de la Salud del 2012 al 2017, con dosajes de IgA, IgG e IgM y dato clínico de infecciones recurrentes y/o graves. Se aplicó un algoritmo internacional de diagnóstico fenotípico a los casos de hipogammaglobulinemia. Resultados: La edad promedio de los pacientes fue de 6±4 años, 54% (77/143) era de sexo masculino, un 78% (112/143) fue pacientes ambulatorios y 40% (57/143) presentó infecciones respiratorias. En el 90% (129/143) se observó valores normales de inmunoglobulinas séricas y en el 10% (14/143) se encontró hipogammaglobulinemia que correspondió a un caso de XLA, 3 casos de CVID, 5 de DIgA, 2 de HIgM, 2 deficiencias de subclases de IgG y una deficiencia selectiva de IgM. Conclusiones: Se identificaron casos de DPA cuyas frecuencias concuerdan con datos de otros países con DIgA y CVID como las más comunes. Es importante sospecharlas en niños y adolescentes con infecciones recurrentes, graves, oportunistas, y evaluar las inmunoglobulinas séricas para un diagnóstico oportuno.

Introduction: Predominantly antibody deficiencies (PAD) are primary immunodeficiencies characterized by hypogammaglobulinaemia, a decrease of IgA, IgG and/or IgM serum levels, which predispose to recurrent and/or severe infections. The most frequent are the common variable immunodeficiency (CVID), X-linked agammaglobulinaemia (XLA), hyper IgM syndrome (HIgM) and IgA deficiency (IgAD). In Paraguay, the reports about these diseases are very few. Objective: to study serum immunoglobulin levels in patients with recurrent and/or severe infections searching for PAD. Materials and Methods: 143 patients from 1 to 17 years old were included, registered in a data base from the Instituto de Investigaciones en Ciencias de la Salud from 2012 to 2017, with IgA, IgG and IgM serum levels dosages and clinical reference of recurrent and/or severe infections. An international diagnostic phenotypic algorithm was applied to the hypogammaglobulinaemia cases. Results: The average age of the patients was 6 ± 4 years, 54% (77/143) were males, 78% (112/143) were outpatients and 40% (57/143) had respiratory infections. In 90% (129/143) of the patients normal values of serum immunoglobulins were observed and in 10% (14/143) hypogammaglobulinaemia was found, corresponding to one case of XLA, 3 cases of CVID, 5 of IgAD, 2 of HIgM, 2 IgG subclasses deficiencies and one IgM selective deficiency. Conclusions: The frequency of DPA cases identified corresponds with data from other countries in which IgAD and CVID are the most common ones. It is important to suspect these pathologies in children and adolescents with recurrent, severe, opportunistic infections and evaluate their serum immunoglobulins for timely diagnostic.

[An overview of oculocutaneous albinism: TYR gene mutations in five Colombian individuals]. / Una mirada al albinismo óculo-cutáneo: reporte de mutaciones en el gen TYR en cinco individuos colombianos.

INTRODUCTION: Oculocutaneus albinism is a pigment-related inherited disorder characterized by hypopigmentation of the skin, hair and eyes, foveal hypoplasia and low vision. To date, 230 mutations in the TYR gene have been reported as responsible for oculocutaneus albinism type 1 worldwide. TYR gene encodes the enzyme tyrosinase involved in the metabolic pathway of melanin synthesis. OBJECTIVES: Mutations were identified in the TYR gene as responsible for oculocutaneous albinism type 1 in five Colombian individuals, and a new ophthalmic system was tested that corrected visual defects and symptoms in a patient with oculocutaneous albinism. MATERIALS AND METHODS: Samples were taken from 5 individuals, four of whom belong to a single family, along with a fifth individual not related to the family. Five exons in the TYR gene were sequenced to search for the gene carriers in the family and in the non-related individual. In addition, clinical ophthalmological evaluation and implementation of an new oculo-visual system was undertaken. RESULTS: A G47D and 1379delTT mutation was identified in the family. The unrelated individual carried a compound heterozygote for the G47D and D42N mutations. The oculo-visual corrective system was able to increase visual acuity and to diminish the nystagmus and photophobia. CONCLUSIONS: This is the first study in Colombia where albinism mutations are reported. The methods developed will enable future molecular screening studies in Colombian populations.

Estallido respiratorio de neutrófilos por las técnicas del nitroazul tetrazolio (NBT) y dihidrorodamina (DHR) en niños con sospecha clínica de enfermedad granulomatosa crónica (EGC)

Introducción: El estallido respiratorio (ER) de neutrófilos es fundamental para la defensa contra infecciones, proceso ausente o ineficaz en la EGC, una inmunodeficiencia primaria (IDP) diagnosticada mediante la prueba del NBT. Actualmente se destacan las técnicas por citometría de flujo como la DHR, realizada únicamente en el Instituto de Investigaciones en Ciencias de la Salud (IICS), habiendo sido aplicada sólo en niños sanos. Objetivo: Evaluar el ER de neutrófilos por las técnicas NBT y DHR en niños con sospecha clínica de EGC y describir sus características clínico-demográficas. Materiales y Métodos: Se incluyeron 36 niños de ambos sexos, menores de 17 años de edad, remitidos al IICS entre el 2014-2015 por médicos especialistas. Se extrajo sangre para evaluación del ER de neutrófilos y se aplicó un cuestionario. Resultados: La mediana de edad fue de 4 años, 56% varones. Predominaron los pacientes hospitalizados, la sepsis y forunculosis cutánea fueron las manifestaciones clínicas más frecuentes y un 72% presentó recurrencia de infecciones con mediana de 3 episodios/año. El promedio para el IE de neutrófilos fue de 38,1±13,7 en el ensayo DHR, y 87±17% de activación para la prueba del NBT. En 8 pacientes los valores fueron inferiores al considerado normal y en un niño se confirmó EGC, observándose un patrón de herencia ligada al X. Conclusión: La evaluación del ER de neutrófilos permitió detectar un caso de EGC, determinándose el patrón hereditario mediante la técnica DHR por primera vez en el país. Es esencial el empleo de herramientas diagnósticas disponibles en niños con sospecha clínica de IDPs, para la detección y tratamiento oportunos que mejoran su calidad de vida y reducen la mortalidad.

Introduction: The neutrophil`s respiratory burst (RB) is essential for the defense against infections, this process is absent or ineffective in the CGD, a primary immunodeficiency (PID) diagnosed by the NBT test. Techniques that used flow cytometry such as DHR, performed only at the Instituto de Investigaciones en Ciencias de la Salud (IICS), currently stand out, having been applied only to healthy children. Objective: To evaluate the neutrophil`s RB using the NBT and DHR techniques in children with clinical suspicion of CGD and to describe their clinical and demographic characteristics. Materials and methods: 36 children of both sexes, with less than 17 years of age, that were referred to the IICS by specialists physicians between the years 2014-2015 were included. A blood sample was obtained to evaluate the neutrophil`s RB and a questionnaire was applied. Results: The median age was of 4 years and 56 % were males. Predominantly the patients were hospitalized, being sepsis and cutanueos furunculosis the most frequent clinical manifestations and a 72 % presented recurrent infection with a median of 3 episodes/year. The average for the neutrophil´s stimulation index (EI) was 38,1±13,7 with the DHR test, and 87±17% of activation for the NBT test. In 8 patients the values obtained were below the ones considered as normal and in one child CGD was confirmed, in which an X-linked inheritance pattern was observed. Conclusion: The evaluation of the neutrophil`s RB allowed the detection of one case of CGD, and the inheritance pattern was determined by the DHR test for the first time in our country. The use of available diagnostic tools in children with clinical suspicion of PID is essential for the appropriate detection and treatment that improve the quality of life and reduce mortality.