Fibrosis-related transcriptome unveils a distinctive remodeling matrix pattern in penetrating ileal Crohn's disease.

BACKGROUND AND AIMS: Stricturing (B2) and penetrating (B3) ileal Crohn's disease have been reported to present similar levels of histopathological transmural fibrosis. This study aimed to compare the fibrosis-related transcriptomic profiles of penetrating and stricturing ileal Crohn's disease. METHODS: Using Nanostring technology and comparative bioinformatics, we analyzed the expression of 787 fibrosis-related genes in 36 ileal surgical specimens, 12 B2 and 24 B3, the latter including 12 cases with associated stricture(s) (B3s) and 12 without (B3o). Quality control of extracted RNA was performed according to Nanostring parameters and principal component analysis for the distribution analysis. For the selection of the differentially expressed genes a p-adjusted <0.05 and Fold Change ≤-1.5 or ≥ 1.5 was adopted. qPCR and immunohistochemistry analyses were used to validate selected differentially expressed genes. RESULTS: We included 34 patients with B2 and B3 phenotypes, balanced for age at diagnosis, age at surgery, gender, Crohn's disease localization, perianal disease and therapy. Inflammation and fibrosis histopathological scoring were similar in all cases. B2 and B3 groups showed a very good clustering regarding 30 significantly differentially expressed genes, all being remarkably upregulated in B3. More than half of these genes were involved in Crohn's disease fibrogenesis, while eight differentially expressed genes were so in other organs. The most significantly active biologic processes and pathways in penetrating disease were response to TGFßand matrix organization and degradation, as validated by immunohistochemistry. CONCLUSIONS: Despite the histopathological similarities in fibrosis between stricturing and penetrating ileal Crohn's disease, their fibrosis-related transcriptomic profiles are distinct. Penetrating disease exhibits a distinctive transcriptomic landscape related to enhanced matrix remodeling.

Food-Related Quality of Life and Its Predictors in Inflammatory Bowel Disease.

BACKGROUND: Inflammatory bowel disease (IBD) is associated with dietary restrictions and food- and drink-driven daily life limitations. Food-related quality of life (FR-QoL) is still an under-addressed issue in IBD. AIM: We aimed to study determinants of FR-QoL in an IBD cohort, namely objective measures of disease activity. METHODS: A cross-sectional case-control study was conducted in a Tertiary Hospital, including adult patients with IBD (cases) and blood donors or subjects referred for colorectal polypectomies (controls). Participants answered an anonymous multimodal questionnaire including sociodemographic and clinical data, the validated FR-QoL-29, and the SIBDQ tools. Patients' disease activity was previously assessed by a physician using symptom-based scores and biomarkers (Harvey-Bradshaw index, partial Mayo score, fecal calprotectin). RESULTS: A total of 239 patients with IBD and 126 controls were included. Patients with active disease had poorer FR-QoL than patients in remission (80.0 [56.0-99.0] vs. 103.5 [81.0-129.9], p < 0.001). Still, patients with IBD had significantly lower FR-QoL compared with controls (99.0 [76.0-126.0] vs. 126.0 [102.8-143.0], p < 0.001), irrespective of disease activity. FR-QoL correlated with health-related quality of life, measured by SIBDQ (r = 0.490, p < 0.001), and was significantly impaired by patients' depressive humor (84.0 [61.0-112.0] vs. 108.0 [88.0-130.5], p < 0.001). Globally, FR-QoL compromise was mostly related to persistent worries about food, concerns about food-related symptoms, and life disruption due to eating and drinking. CONCLUSIONS: Patients with IBD showed significant FR-QoL impairment, irrespective of disease type and activity. Related psychosocial factors, such as the patient's affective status and fear around eating, warrant a need for a multidisciplinary approach to IBD, including tailored nutritional counseling.

The Hemodialysis Distress Thermometer for Caregivers (HD-DT-C): development and testing of the psychometric properties of a new tool for screening psychological distress among family caregivers of adults on hemodialysis.

PURPOSE: To develop and test the measurement properties of the HD-DT-C, a new tool designed to facilitate the screening of psychological distress and its sources in family caregivers of adults on hemodialysis. METHODS: The present investigation was carried out in three phases: Phase 1 focused on the process of developing and exploring the content validity and clinical utility of the HD-DT-C using a mixed-methods approach and feedback panels; Phase 2, where the psychometric properties of this new tool were tested in a cross-sectional study (n = 106 caregivers); and Phase 3, where the European Portuguese version of the HD-DT-C was translated and culturally adapted into American English using a forward-backward translation procedure, followed by an expert panel review. RESULTS: Findings suggested that the HD-DT-C was perceived by feedback panels as practical, appropriate, and useful for increasing dialysis provider/family caregiver communication in nephrology centers. The European Portuguese version of the HD-DT-C showed good test-retest reliability (ICC = 0.991 for the barometer and κ ≥ 0.80 in 77% of the checklist items), high diagnostic accuracy (AUC = 0.956), and strong convergent validity (all r ≥ 0.50) with reference measures that assess quality of life, caregiver burden, and symptoms of anxiety and depression. Cutoff scores with good clinical utility (CUI + ≥ 0.70) were recommended for screening distress in research (≥ 6) and clinical practice (≥ 5). CONCLUSION: The HD-DT-C is a brief, reliable, valid, and acceptable measure for identifying self-reported psychological distress and its sources among people caring for a family member or friend on hemodialysis. Future research is needed to explore the measurement properties of the American English version of this new tool.

Inadequate Adenosine-Induced Flow Arrest During Intraoperative Basilar Aneurysm Surgery.

Aneurysmal subarachnoid hemorrhage (SAH) is an acute neurologic emergency. We report the case of a 48-year-old male with a massive SAH caused by a ruptured aneurysm of the vertebrobasilar transition. During an urgent craniotomy, due to an aneurysm re-rupture, adenosine was given for flow arrest but no sinus pause was observed. Esmolol was administered and strategies for cerebral protection were implemented. The surgeon was able to clip the aneurysm and the patient was discharged after 78 days without sequelae. The highest adenosine dose given did not result in an efficient cardiac pause. Atropine given one hour before could have contributed to this. This case highlights a successfully managed case of ruptured aneurysm with refractory adenosine-induced flow arrest.

How many biomarker measurements are needed to predict prognosis in Crohn's disease patients under infliximab?-A prospective study.

BACKGROUND: Timely stratification of Crohn's disease (CD) is essential for patients' management. The use of noninvasive accurate biomarkers is key to monitor treatment and to pursue mucosal healing, the ultimate treatment endpoint in CD. OBJECTIVE: We aimed to evaluate the performance of readily available biomarkers and develop risk matrices to predict CD progression. METHODS: Data from 289 CD patients receiving infliximab (IFX) maintenance therapy for 2 years was collected; those patients were included in DIRECT, a prospective multicenter observational study. Disease progression was evaluated using two composite outcomes incorporating clinical and drug-related factors, the first including IFX dose and/or frequency adjustments. Univariate and multivariable logistic regressions were used to calculate the odds ratios (OR) and to develop risk matrices. RESULTS: The isolated presence of anemia at least once during follow-up was a significant predictor of disease progression (OR 2.436 and 3.396 [p ≤ 0.001] for composite outcomes 1 and 2, respectively) regardless of confounding factors. Isolated highly elevated C-reactive protein (CRP; >10.0 mg/L) and fecal calprotectin (FC; >500.0 µg/g) in at least one visit were also significant predictors, while milder elevations (3.1-10.0 mg/L and 250.1-500.0 µg/g) were only relevant when detected in at least two visits (consecutive or not). The combination of biomarkers in risk matrices had good ability to predict progression; patients simultaneously presenting anemia, highly elevated CRP and FC at least once had 42%-63% probability of achieving the composite outcomes. CONCLUSION: The combined evaluation of hemoglobin, CRP, and FC in at least one time point and their incorporation into risk matrices seems to be the optimal strategy for CD management, as data from additional visits did not meaningfully influence the predictions and may delay decision-making.

The Influence of Serious Games in the Promotion of Healthy Diet and Physical Activity Health: A Systematic Review.

(1) Background: serious games seem to show promising strategies to promote treatment compliance and motivate behavior changes, and some studies have proven to contribute to the literature on serious games. (2) Methods: this systematic review aimed to analyze the effect of serious games in promoting healthy eating behaviors, effectively preventing childhood obesity, and improving physical activity in children. Five electronic bibliographic databases-PubMed, ACM Digital Library, Games for Health Journal, and IEEE Xplore were used to conduct a systematic literature search based on fixed inclusion and exclusion criteria. Peer-reviewed journal articles published between 2003 and 2021 were selected for data extraction. (3) Results: a total of 26 studies were identified, representing 17 games. Half of the studies tested interventions for healthy eating and physical education. Most of the intervention's games were designed according to specific behavioral change theories, predominantly the social cognitive theory. (4) Conclusions: studies confirmed the potential of serious games for obesity prevention but considering the restrictions encountered, we exhort for novel designs with different theoretical perspectives.

Kidney Disease in Ankylosing Spondylitis: a case series and review of the literature / Doença Renal na Espondilite Anquilosante: uma série de casos e revisão da literatura

Abstract Background Kidney disease is a rare manifestation of ankylosing spondylitis (AS) and its pathological alterations remain poorly described. The aim of this study was to investigate the clinical presentation and pathological alterations on kidney biopsy of AS patients and review and discuss the current literature on the issue. Methods: We retrospectively studied the clinical presentation and kidney pathological alterations of 15 Caucasian AS patients submitted to kidney biopsy between October 1985 and March 2021. Results: Patients were predominantly male (66.7%) with median age at the time of kideney biopsy of 47 years [IQR 34 - 62]. Median serum creatinine at presentation was 1.3 mg/dL [IQR 0.9 - 3] and most patients also had either proteinuria (85.7%) and/or hematuria (42.8%). The most common indication for kidney biopsy was nephrotic syndrome (33.3%), followed by acute or rapidly progressive kidney injury (20%) and chronic kidney disease of unknown etiology (20%). Chronic interstitial nephritis (CIN) (n=3) and AA amyloidosis (n=3) were the most common diagnosis. Others included IgA nephropathy (IgAN) (n=2), focal segmental glomerulosclerosis (n=2), membranous nephropathy (n=1), and immune complex-mediated membranoproliferative glomerulonephritis (IC-MPGN)(n=1). Conclusions: We present one of the largest series of biopsy-proven kidney disease in Caucasian AS patients. We found a lower prevalence of IgAN than previously reported in Asian cohorts. We found a higher prevalence of CIN and a lower prevalence of AA amyloidosis than that described in previous series of Caucasian patients. We also present the first case of AS-associated IC-MPGN.

Resumo Antecedentes: A doença renal é uma manifestação rara de espondilite anquilosante (EA) e as suas alterações patológicas permanecem pouco descritas. O objetivo deste estudo foi investigar a apresentação clínica e alterações patológicas na biópsia renal de doentes com EA bem como rever e discutir a literatura atual sobre o assunto. Métodos: Estudamos retrospectivamente a apresentação clínica e alterações patológicas renais de 15 doentes caucasianos com EA submetidos a biópsia renal entre Outubro de 1985 e Março de 2021. Resultados: Os doentes eram predominantemente homens (66,7%) com idade mediana no momento da biópsia de 47 anos [IIQ 34 - 62]. A creatinina sérica mediana na apresentação foi de 1,3 mg/dL [IIQ 0,9 - 3] e a maioria dos pacientes apresentava também proteinúria (85,7%) e/ou hematúria (42,8%). A indicação mais comum para biópsia renal foi a síndrome nefrótica (33,3%), seguida de lesão renal aguda ou rapidamente progressiva (20%) e doença renal crónica de etiologia desconhecida (20%). A Nefrite intersticial crónica (NIC) (n=3) e a amiloidose AA (n=3) foram os diagnósticos mais comuns. Outros incluíram nefropatia por IgA (NIgA) (n=2), glomeruloesclerose segmentar focal (n=2), nefropatia membranosa (n=1) e glomerulonefrite membranoproliferativa mediada por imunocomplexos (GNMP-IC) (n=1). Conclusões: Apresentamos uma das maiores séries de doenças renais comprovadas por biópsia em doentes caucasianos com EA. Encontramos uma prevalência de NIgA menor do que a relatada anteriormente em coortes asiáticas. Encontramos uma maior prevalência de NIC e uma prevalência menor de amiloidose AA do que a descrita em séries anteriores de pacientes caucasianos. Também apresentamos o primeiro caso de GNMP-IC associada à EA.

CanCOG®: Cultural Adaptation of the Evidence-Based UCLA Cognitive Rehabilitation Intervention Program for Cancer Survivors in Portugal.

Cognitive difficulties are highly prevalent and negatively impact cancer survivors' quality of life. The UCLA Cognitive Rehabilitation Intervention Program (in short, UCLA program) is an evidence-based intervention developed and tested in the US to address the cognitive complaints of cancer survivors. Since there are no cognitive rehabilitation programs available for Portuguese cancer-related settings, this study aimed to culturally adapt the UCLA program to Portugal. Nine steps were implemented for this cultural adaptation: needs assessment, initial contacts, translation, cultural adaptation, independent review by a panel of experts (n = 6), focus group discussions with cancer survivors (n = 11), systematization of inputs and improvement of the final materials, fidelity check, and preliminary acceptability assessment. The findings suggested that changes to the original materials were needed. A Portuguese name, "CanCOG®-Reabilitação Cognitiva no Cancro" (in English "CanCOG®-Cognitive Rehabilitation in Cancer"), and a logo were created to make it more memorable and appealing for the Portuguese population. The language was adjusted to ensure content accessibility and semantic and conceptual equivalence. Finally, references to several cultural aspects, such as habits, customs, and traditions, were adapted to fit the new cultural context. The UCLA program may be a promising tool to help alleviate the cognitive difficulties reported by cancer survivors in different cultural contexts. Future research is needed to confirm the feasibility, acceptability, and preliminary efficacy of its Portuguese version, "CanCOG®-Reabilitação Cognitiva no Cancro".

Urinary Sediment Microscopy and Correlations with Kidney Biopsy: Red Flags Not To Be Missed.

BACKGROUND: Urinary sediment is a noninvasive laboratory test that can be performed by an automated analyzer or manually by trained personnel. Manual examination remains the diagnostic standard because it excels at differentiating isomorphic from dysmorphic red blood cells and identifying other urinary particles such as renal tubular epithelial cells (RTECs), lipids, crystals, and the composition of casts. This study aimed to investigate the prevalence of a complete profile of urinary sediment particles and its associations with histologic lesions on kidney biopsy, regardless of diagnosis. METHODS: This was a single-center, observational retrospective study of 131 patients who had contemporary manual urinary sediment evaluation and kidney biopsy. A comprehensive set of urinary particles and histologic lesions were quantified, and their associations were analyzed. RESULTS: In our samples, we found an elevated frequency of findings suggestive of proliferative kidney disease and a low frequency of particles evoking urologic damage. The association of histologic lesions and urinary particles was explored with a multivariate model. We identified urinary sediment characteristics that independently correlated with the presence of some histologic lesions: urinary lipids with mesangial expansion (OR=2.86; 95% confidence interval [95% CI], 1.3 to 6.3), mesangial hypercellularity (OR=2.44; 95% CI, 1.06 to 5.58), and wire loops and/or hyaline deposits (OR=2.89; 95% CI, 1.13 to 7.73); Urinary renal tubular epithelial cells with endocapillary hypercellularity (OR=3.17; 95% CI, 1.36 to 7.39), neutrophils and/or karyorrhexis (OR=4.51; 95% CI, 1.61 to 12.61), fibrinoid necrosis (OR=4.35; 95% CI, 1.48 to 12.74), cellular/fibrocellular crescents (OR=5.27; 95% CI, 1.95 to 14.26), and acute tubular necrosis (OR=2.31; 95% CI, 1.08 to 4.97). CONCLUSIONS: In a population of patients submitted to kidney biopsy, we found that the presence of some urinary particles (renal tubular epithelial cells, lipids, and dysmorphic erythrocytes), which are seldom reported by automated analyzers, is associated with active proliferative histologic lesions. In this regard, manual urinary sediment evaluation may help to shape the indications for performing a kidney biopsy.

Kidney Disease in Ankylosing Spondylitis: a case series and review of the literature.

BACKGROUND: Kidney disease is a rare manifestation of ankylosing spondylitis (AS) and its pathological alterations remain poorly described. The aim of this study was to investigate the clinical presentation and pathological alterations on kidney biopsy of AS patients and review and discuss the current literature on the issue. METHODS: We retrospectively studied the clinical presentation and kidney pathological alterations of 15 Caucasian AS patients submitted to kidney biopsy between October 1985 and March 2021. RESULTS: Patients were predominantly male (66.7%) with median age at the time of kideney biopsy of 47 years [IQR 34 - 62]. Median serum creatinine at presentation was 1.3 mg/dL [IQR 0.9 - 3] and most patients also had either proteinuria (85.7%) and/or hematuria (42.8%). The most common indication for kidney biopsy was nephrotic syndrome (33.3%), followed by acute or rapidly progressive kidney injury (20%) and chronic kidney disease of unknown etiology (20%). Chronic interstitial nephritis (CIN) (n=3) and AA amyloidosis (n=3) were the most common diagnosis. Others included IgA nephropathy (IgAN) (n=2), focal segmental glomerulosclerosis (n=2), membranous nephropathy (n=1), and immune complex-mediated membranoproliferative glomerulonephritis (IC-MPGN)(n=1). CONCLUSIONS: We present one of the largest series of biopsy-proven kidney disease in Caucasian AS patients. We found a lower prevalence of IgAN than previously reported in Asian cohorts. We found a higher prevalence of CIN and a lower prevalence of AA amyloidosis than that described in previous series of Caucasian patients. We also present the first case of AS-associated IC-MPGN.

Acute interstitial nephritis due to dolutegravir: The first case reported.

Kidney disease is frequent in HIV-patients. We present a case of a 44-year-old woman, with known uncontrolled HIV infection and chronic kidney disease due to HIV-associated nephropathy. After starting dolutegravir, the patient developed eosinophilia and worsening kidney function. A kidney biopsy confirmed the diagnosis of acute interstitial nephritis. Given the time relation with dolutegravir introduction, it was deemed the culprit medication. Dolutegravir was stopped, and corticosteroids were initiated, with moderate improvement in renal function. To our knowledge, this is the first reported case of acute interstitial nephritis to dolutegravir, which should raise awareness of previously undocumented renal effects of antiretroviral therapy.

Transmural remission improves clinical outcomes up to 5 years in Crohn's disease.

INTRODUCTION: Evidence supporting transmural remission (TR) as a long-term treatment target in Crohn's disease (CD) is still unavailable. Less stringent but more reachable targets such as isolated endoscopic (IER) or radiologic remission (IRR) may also be acceptable options in the long-term. METHODS: Multicenter retrospective study including 404 CD patients evaluated by magnetic resonance enterography and colonoscopy. Five-year rates of hospitalization, surgery, use of steroids, and treatment escalation were compared between patients with TR, IER, IRR, and no remission (NR). RESULTS: 20.8% of CD patients presented TR, 23.3% IER, 13.6% IRR and 42.3% NR. TR was associated with lower risk of hospitalization (odds-ratio [OR] 0.244 [0.111-0.538], p < 0.001), surgery (OR 0.132 [0.030-0.585], p = 0.008), steroid use (OR 0.283 [0.159-0.505], p < 0.001), and treatment escalation (OR 0.088 [0.044-0.176], p < 0.001) compared to no NR. IRR resulted in lower risk of hospitalization (OR 0.333 [0.143-0.777], p = 0.011) and treatment escalation (OR 0.260 [0.125-0.540], p < 0.001), while IER reduced the risk of steroid use (OR 0.442 [0.262-0.745], p = 0.002) and treatment escalation (OR 0.490 [0.259-0.925], p = 0.028) compared to NR. CONCLUSIONS: TR improved clinical outcomes over 5 years of follow-up in CD patients. Distinct but significant benefits were seen with IER and IRR. This suggests that both endoscopic and radiologic remission should be part of the treatment targets of CD.

Targeted intervention to achieve waste reduction in gastrointestinal endoscopy.

OBJECTIVE: Endoscopy is healthcare's third largest generator of medical waste in hospitals. This prospective study aimed to measure a single unit's waste carbon footprint and perform a pioneer intervention towards a more sustainable endoscopy practice. The relation of regulated medical waste (RMW; material fully contaminated with blood or body fluids or containing infectious agents) versus landfill waste (non-recyclable material not fully contaminated) may play a critical role. DESIGN: In a four-stage prospective study, following a 4-week observational audit with daily weighing of both waste types (stage 1), stage 2 consisted of a 1-week intervention with team education of waste handling. Recycling bins were placed in endoscopy rooms, landfill and RMW bins were relocated. During stages 3 (1 month after intervention) and 4 (4 months after intervention), daily endoscopic waste was weighed. Equivalence of 1 kg of landfill waste to 1 kg carbon dioxide equivalent (CO2e) and 1 kg of RMW to 3kgCO2e was assumed. Paired samples t-tests for comparisons. RESULTS: From stage 1 to stage 3, mean total waste and RMW were reduced by 12.9% (p=0.155) and 41.4% (p=0.010), respectively, whereas landfill (p=0.059) and recycling waste increased (paper: p=0.001; plastic: p=0.007). While mean endoscopy load was similar (46.2 vs 44.5, p=0.275), a total decrease of CO2e by 31.6% (138.8kgCO2e) was found (mean kgCO2e109.7 vs 74.9, p=0.018). The annual reduction was calculated at 1665.6kgCO2e. All these effects were sustained 4 months after the intervention (stage 4) without objections by responsible endoscopy personnel. CONCLUSION: In this interventional study, applying sustainability measures to a real-world scenario, RMW reduction and daily recycling were achieved and sustained over time, without compromising endoscopy productivity.

Subclinical Persistent Inflammation as Risk Factor for Crohn's Disease Progression: Findings From a Prospective Real-World Study of 2 Years.

BACKGROUND AND AIMS: Subclinical intestinal inflammation is common in Crohn's disease (CD). We aimed to explore its impact in the disease progression of infliximab-treated patients and the usefulness of fecal calprotectin (FC) and C-reactive protein (CRP) as surrogate minimally invasive biomarkers. METHODS: The registry-based, prospective, observational, multicenter DIRECT (study to investigate the correlation of fecal calprotectin with serum Drug levels and development of an antI-dRug antibodiEs among adult patients with inflammatory bowel disease reCeiving anti-TNF-alfa treatment or vedoluzimab treatment) study followed infliximab-treated CD patients for 2 years in a tertiary care setting. Persistent inflammation definition was based on FC (>150 µg/g, >250 µg/g, or >350 µg/g) or serum CRP (>3 µg/mL) concentrations over 2 consecutive or at least 3 visits. Patients were categorized according to a composite outcome reflecting disease progression that incorporated surgery; hospitalizations; new fistulae, abscess, or stricture; and treatment escalation. RESULTS: Of 322 DIRECT study patients, 180 asymptomatic, infliximab treated on maintenance regimen were included in the analysis. Patients developing the composite endpoint (n = 96) presented higher median levels of FC (205 [interquartile range, 98-515] µg/g; P = .045) but not of CRP (2.50 [interquartile range, 0.80-6.00] µg/mL; P = .895). Biomarker-defined persistent subclinical inflammation prevalence ranged from 24% to 81%. Considering FC >250 µg/g in 2 consecutive visits, prevalence was 50%, odds of achieving the endpoint were increased 3-fold (odds ratio, 2.996 [95% confidence interval, 1.557-5.776]), and time-to-outcome occurrence was significantly lower among subjects with persistent inflammation (median time: 11 months). Both clinical-related and treatment-related components were significantly associated with persistent inflammation. Definitions based on CRP >3 µg/mL, FC >150 µg/g, FC >350 µg/g, double biomarkers (FC >250 µg/g and/or CRP >3 µg/mL), or more visits did not improve predictive ability. CONCLUSIONS: Persistent inflammation, defined simply and readily by FC >250 µg/g over 2 consecutive visits, was associated with a significantly higher risk and shorter time to occurrence of a composite outcome reflecting disease progression in asymptomatic infliximab-treated CD patients.

Desenvolvimento de aplicativo móvel para o acompanhamento pré-natal e validação de conteúdo / Desarrollo de aplicación móvil para el seguimiento de la atención prenatal y validación de contenido / Development of a mobile application for prenatal care and content validation

Resumo Objetivo Desenvolver aplicativo móvel para gestantes em acompanhamento pré-natal e validar o conteúdo. Métodos Estudo metodológico, tecnológico de abordagem quantitativa realizado em três etapas: revisão integrativa de literatura, validação de conteúdo e construção do aplicativo. A revisão foi realizada em Bases de Dados Bibliográficas; em seguida, um instrumento guia foi elaborado abarcando assuntos sobre pré-natal, parto e puerpério, o qual passou por uma validação inicial, por meio de um grupo focal. Para a construção do aplicativo seguiram-se as fases: análise, design, desenvolvimento, implementação e avaliação de especialistas. A construção do aplicativo e validação do conteúdo foi realizada por 21 especialistas, sendo 14 enfermeiros obstetras e 7 profissionais da área de tecnologia da informação e comunicação. Utilizou-se o Índice de Validade de Conteúdo (IVC), considerando como taxa de concordância valores acima de 80%, Concordância interavaliadores e teste não paramétrico de Mann-Whitney para verificação da fase Delphi 1 e 2. Resultados O aplicativo possui 111 telas sobre o pré-natal, parto, puerpério e aleitamento materno, caderneta virtual da gestante, despertador como lembrete de consultas e o menu fale conosco. Após duas rodadas da técnica Delphi, obteve-se concordância entre os especialistas, com índice de validade de conteúdo médio de 0,89. Conclusão O aplicativo obteve IVC geral adequado entre os especialistas, evidenciando que as informações abordadas e a parte técnica do sistema são confiáveis, sendo validado quanto ao conteúdo. Este apresenta-se como uma potencial ferramenta para promoção da saúde, no que concerne ao cuidado no período gravídico-puerperal.

Resumen Objetivo Desarrollar aplicación móvil para gestantes para el seguimiento de la atención prenatal y validar el contenido. Métodos Estudio metodológico, tecnológico de enfoque cuantitativo realizado en tres etapas: revisión integradora de literatura, validación de contenido y elaboración de la aplicación. La revisión fue realizada en bases de datos bibliográficas. Luego, se elaboró un instrumento guía sobre temas relacionados con control prenatal, parto y puerperio, que pasó por una validación inicial, por medio de un grupo focal. Para elaborar la aplicación, se siguieron las siguientes fases: análisis, diseño, desarrollo, implementación y evaluación de especialistas. La elaboración de la aplicación y la validación del contenido fueron realizadas por 21 especialistas, de los cuales 14 eran enfermeros obstetras y siete profesionales del área de tecnologías de la información y la comunicación. Se utilizó el Índice de Validez de Contenido (IVC), considerando como índice de concordancia valores superiores a 80 %, concordancia interevaluadores y prueba no paramétrica de Mann-Whitney para verificación de la fase Delphi 1 y 2. Resultados La aplicación posee 111 pantallas sobre control prenatal, parto, puerperio y lactancia materna, libreta virtual de gestante, alarma como recordatorio de consultas y el menú "contáctenos". Luego de dos rondas del método Delphi, se obtuvo concordancia entre los especialistas, con un índice de validez de contenido promedio de 0,89. Conclusión La aplicación obtuvo un IVC general adecuado entre los especialistas, lo que deja en evidencia que la información abordada y la parte técnica del sistema son confiables y, de esta forma, el contenido es validado. Se presenta como una herramienta potencial para la promoción de la salud, en lo que respecta al cuidado durante el embarazo y el puerperio.

Abstract Objective To develop a mobile application for pregnant women in prenatal care and validate its content. Methods This is a methodological and technological study with a quantitative approach, carried out in three stages: integrative literature review, content validation, and application construction. The review was carried out in bibliographic databases; then, a guide instrument was elaborated covering subjects about prenatal care, childbirth and the puerperium, which underwent an initial validation through a focus group. For the application construction, the following phases were followed: analysis, design, development, implementation and expert assessment. The application construction and content validation were carried out by 21 experts, being 14 obstetric nurses and 7 Information and Communication Technology professionals. Content Validity Index (CVI) was used, considering as an agreement rate values above 80%, inter-rater agreement and Mann-Whitney non-parametric test to verify Delphi 1 and 2 phases. Results The application has 111 screens about prenatal care, childbirth, puerperium and breastfeeding, the pregnant woman's virtual notebook, an alarm clock as a reminder of appointments and the contact us menu. After two rounds Delphi technique rounds, agreement was reached between the experts, with an average Content Validity Index of 0.89. Conclusion The application obtained an adequate general CVI among experts, showing that the information covered and the system's technical part are reliable, being validated in terms of content. This presents itself as a potential instrument for health promotion with regard to care in the pregnancy-puerperal period.

[A rare presentation of kidney allograft intolerance syndrome: Bullous pemphigoid]. / Une présentation rare du syndrome d'intolérance au greffon renal : la pemphigoïde bulleuse.

Bullous pemphigoid is an autoimmune bullous cutaneous disease. We report the case of a 60 year-old male patient whose kidney allograft failed and was on hemodialysis for the previous 16 months. After tapering immunosuppressive medication, he presented simultaneous bullous eruption and kidney allograft intolerance syndrome. Investigation showed a positive BP180 anti-basement membrane zone antibody and skin biopsy was consistent with bullous pemphigoid. The patient was treated with corticotherapy and bullous pemphigoid resolved. The development of new onset diabetes and concerns over long term immunosuppression, halted the decision to continue corticotherapy and the patient underwent graft nephrectomy, with resolution of the kidney allograft intolerance syndrome without recurrence of the bullous disease. The occurrence of bullous pemphigoid in patients with failed renal allograft is rare, with only eleven cases reported in literature. This case illustrates how graft nephrectomy can provide a definitive cure to bullous pemphigoid in this setting.

X-linked hypophosphatemic rickets: a new mutation / Raquitismo hipofosfatêmico ligado ao X: uma nova mutação

Abstract Phosphopenic rickets may be caused by mutations in the PHEX gene (phosphate regulating endopeptidase homolog X-linked). Presently, more than 500 mutations in the PHEX gene have been found to cause hypophosphatemic rickets. The authors report a clinical case of a 4-year-old girl with unremarkable family history, who presented with failure to thrive and bowing of the legs. Laboratory tests showed hypophosphatemia, elevated alkaline phosphatase, normal calcium, mildly elevated PTH and normal levels of 25(OH)D and 1.25(OH)D. The radiological study showed bone deformities of the radius and femur. Clinical diagnosis of phosphopenic rickets was made and the genetic study detected a heterozygous likely pathogenic variant of the PHEX gene: c.767_768del (p.Thr256Serfs*7). This variant was not previously described in the literature or databases. Knowledge about new mutations can improve patient's outcome. Genetic analysis can help to establish a genotype-phenotype correlation.

Resumo O raquitismo fosfopênico pode ser causado por mutações no gene PHEX (ligado ao X do homólogo da endopeptidase que regula o fosfato). Atualmente, mais de 500 mutações no gene PHEX causam raquitismo hipofosfatêmico. Os autores relatam um caso clínico de uma menina de 4 anos com histórico familiar sem relevância, que apresentou falha no crescimento e arqueamento das pernas. Os exames laboratoriais mostraram hipofosfatemia, fosfatase alcalina elevada, cálcio normal, PTH levemente elevado e níveis normais de 25(OH)D e 1,25(OH)D. O estudo radiológico mostrou deformidades ósseas no rádio e no fêmur. O diagnóstico clínico do raquitismo fosfopênico foi realizado e o estudo genético detectou uma provável variante patogênica heterozigótica do gene PHEX: c.767_768del (p.Thr256Serfs*7). Esta variante não foi descrita anteriormente na literatura ou nas bases de dados. O conhecimento sobre novas mutações pode melhorar o desfecho de pacientes. A análise genética pode ajudar a estabelecer uma correlação genótipo-fenótipo.