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Background: Adrenocortical tumours (ACT) in children are part of the Li-Fraumeni cancer spectrum and are frequently associated with a germline TP53 pathogenic variant. TP53 p.R337H is highly prevalent in the south and southeast of Brazil and predisposes to ACT with low penetrance. Thus, we aimed to investigate whether genetic variants exist which are associated with an increased risk of developing ACT in TP53 p.R337H carrier children. Methods: A genetic association study was conducted in trios of children (14 girls, 7 boys) from southern Brazil carriers of TP53 p.R337H with (n = 18) or without (n = 3) ACT and their parents, one of whom also carries this pathogenic variant (discovery cohort). Results were confirmed in a validation cohort of TP53 p.R337H carriers with (n = 90; 68 girls, 22 boys) or without ACT (n = 302; 165 women, 137 men). Findings: We analysed genomic data from whole exome sequencing of blood DNA from the trios. Using deep learning algorithms, according to a model where the affected child inherits from the non-carrier parent variant(s) increasing the risk of developing ACT, we found a significantly enriched representation of non-coding variants in genes involved in the cyclic AMP (cAMP) pathway known to be involved in adrenocortical tumorigenesis. One among those variants (rs2278986 in the SCARB1 gene) was confirmed to be significantly enriched in the validation cohort of TP53 p.R337H carriers with ACT compared to carriers without ACT (OR 1.858; 95% CI 1.146, 3.042, p = 0.01). Interpretation: Profiling of the variant rs2278986 is a candidate for future confirmation and possible use as a tool for ACT risk stratification in TP53 p.R337H carriers. Funding: Centre National de la Recherche Scientifique (CNRS), Behring Foundation, Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq).
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AIM: To determine whether the I-DECIDED assessment and decision tool enhances peripheral intravenous catheter assessment, care and decision-making in paediatrics. DESIGN: Quasi-experimental, interrupted time-series study. METHODS: An interrupted time-series study was conducted in a paediatric inpatient unit at a public teaching hospital in Brazil. The participants were patients aged less than 15 years old with a peripheral intravenous catheter, and their parents or guardians. Data were collected between January and July 2023, encompassing six time points, three pre-intervention and three post-intervention. Evaluation data were based on the I-DECIDED tool, including idle devices, dressings, complications, patient/family awareness, hand hygiene, disinfection and documentation. RESULTS: We conducted 585 peripheral intravenous catheter observations, with 289 in the pre-intervention phase and 296 in the post-intervention phase, inserted in 65 hospitalised children, 30 in the pre-intervention phase and 35 in the post-intervention phase. After the intervention, reductions were observed in the number of idle catheters, substandard dressings and complications. Patients and family members reported an increase in device assessment, hand hygiene and peripheral intravenous catheter disinfection. Additionally, there was an increase in documentation of decision-making performed by nurses and nursing technicians/assistants. CONCLUSION: Implementation of the I-DECIDED assessment and decision tool in a paediatric unit significantly improved the assessment, care and decision-making regarding peripheral intravenous catheters. IMPLICATIONS FOR THE PROFESSION AND/OR PATIENT CARE: Opportunity to enhance practice standards, elevate the quality of care provided to paediatric patients, contribute to improved patient outcomes, advance evidence-based practice in vascular access management and enhance patient experience through increased involvement in care. IMPACT: To influence clinical practice and healthcare policies aimed at improving peripheral intravenous catheter care and patient safety in paediatric settings. PATIENT OR PUBLIC CONTRIBUTION: No patient or public contribution to the design of this study.
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INTRODUCTION: Mutations associated with HIV drug resistance (DR) affect clinical outcomes. Understanding the prevalence of HIV DR and its association with viral suppression and survival in the paediatric population is key to inform patient care and health policies. METHODS: We used Brazilian monitoring systems to identify genotyping tests performed in children living with HIV aged ≤18 months between 2009 and 2020. We categorized HIV DR using three criteria: any HIV DR (R1), DR to nevirapine or efavirenz (R2), and DR to at least one antiretroviral recommended for children with HIV in Brazilian guidelines (R3). We investigated factors associated with HIV DR, viral suppression, and survival up to 3 years old using multivariable models. Lastly, we describe the annual prevalence of each type of HIV DR in Brazilian children with HIV between 2009 and 2020. RESULTS: We included 1152 children with HIV with a median age of 5 months at genotype testing; 57% were females. R1 was observed in 30%, R2 in 17%, and R3 in 21%. Children with HIV whose birth parents were exposed to nevirapine or efavirenz before delivery had higher odds of R2 (odds ratio 3.4; 95% confidence interval [CI] 1.1-10.8). Children with HIV with R1 or R3 had higher rates of death than those with HIV with no HIV DR in the adjusted models (adjusted hazard ratios 4.7 [95% CI 1.6-13.9] and 4.1 [95% CI 1.4-12.4], respectively). The prevalence of resistance to nevirapine and efavirenz peaked in 2015. Over time, the prevalence of genotyping tests with no detected resistance varied between 57% and 87%. CONCLUSION: HIV DR is highly prevalent in children with HIV and is associated with lower survival.
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BACKGROUND: Several lesions can affect the oral and maxillofacial region, with trends influenced by lifestyle and age. AIM: To investigate the occurrence of oral and maxillofacial lesions in paediatric patients assisted in an oral medicine diagnostic service in Brazil over 20 years. DESIGN: A retrospective cross-sectional study was performed in an oral medicine diagnostic service (1999-2019). Data included sex, age, anatomic site, and diagnosis from clinical records of children (0-9 years) and adolescents (10-19 years). Lesions were diagnosed through clinical examination. Biopsy and histopathologic examination were performed when necessary. RESULTS: Among 10 530 records, 702 (6.67%) were from patients aged 0-19 years diagnosed with oral or maxillofacial lesions. A high frequency of females was observed (58.1%). Reactive/inflammatory lesions were the most common group of lesions (45.2%), followed by abnormalities of teeth/developmental defects (17.8%) and pulpal and periapical diseases (8.5%). Mucocele/ranula was the most common lesion in children (29.3%) and adolescents (25.3%). Lips were the most affected anatomic sites. CONCLUSION: Most lesions were benign, and mucocele/ranula was the most frequent. Our results did not differ from those of histopathological-based studies, but they provided information on the occurrence of oral and maxillofacial lesions to dentists and paediatricians.
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INTRODUCTION: Undetected high-risk conditions in pregnancy are a leading cause of perinatal mortality in low-income and middle-income countries. A key contributor to adverse perinatal outcomes in these settings is limited access to high-quality screening and timely referral to care. Recently, a low-cost one-dimensional Doppler ultrasound (1-D DUS) device was developed that front-line workers in rural Guatemala used to collect quality maternal and fetal data. Further, we demonstrated with retrospective preliminary data that 1-D DUS signal could be processed using artificial intelligence and deep-learning algorithms to accurately estimate fetal gestational age, intrauterine growth and maternal blood pressure. This protocol describes a prospective observational pregnancy cohort study designed to prospectively evaluate these preliminary findings. METHODS AND ANALYSIS: This is a prospective observational cohort study conducted in rural Guatemala. In this study, we will follow pregnant women (N =700) recruited prior to 18 6/7 weeks gestation until their delivery and early postpartum period. During pregnancy, trained nurses will collect data on prenatal risk factors and obstetrical care. Every 4 weeks, the research team will collect maternal weight, blood pressure and 1-D DUS recordings of fetal heart tones. Additionally, we will conduct three serial obstetric ultrasounds to evaluate for fetal growth restriction (FGR), and one postpartum visit to record maternal blood pressure and neonatal weight and length. We will compare the test characteristics (receiver operator curves) of 1-D DUS algorithms developed by deep-learning methods to two-dimensional fetal ultrasound survey and published clinical pre-eclampsia risk prediction algorithms for predicting FGR and pre-eclampsia, respectively. ETHICS AND DISSEMINATION: Results of this study will be disseminated at scientific conferences and through peer-reviewed articles. Deidentified data sets will be made available through public repositories. The study has been approved by the institutional ethics committees of Maya Health Alliance and Emory University.
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Inteligência Artificial , Retardo do Crescimento Fetal , Pré-Eclâmpsia , Ultrassonografia Doppler , Humanos , Gravidez , Feminino , Pré-Eclâmpsia/diagnóstico por imagem , Pré-Eclâmpsia/diagnóstico , Guatemala , Retardo do Crescimento Fetal/diagnóstico por imagem , Retardo do Crescimento Fetal/diagnóstico , Estudos Prospectivos , Ultrassonografia Doppler/métodos , População Rural , Ultrassonografia Pré-Natal/métodos , Adulto , Idade Gestacional , Aprendizado Profundo , HipertensãoRESUMO
BACKGROUND: There is limited evidence of succinic acid release from amber necklace that justifies its biological plausibility. AIM: This study aimed to evaluate the release of succinic acid from Baltic amber beads in the presence of Staphylococcus epidermidis. DESIGN: The Baltic amber beads from the necklace were stratified according to their weight (average 0.05 g ± 0.067). Subsequently, the beads (n = 8) were submerged in 0.9% buffered saline (Control) or brain-heart infusion culture medium in the presence of a commercial strain of S. epidermidis, a resident skin bacterium incubated at 37°C for 24 h or 7 days. The samples were centrifuged, and the supernatants were analyzed by 1H Nuclear Magnetic Resonance. Multivariate analyses were adopted using the sparse partial least squares discriminant analysis method (p < .05). RESULTS: The group incubated with saline solution showed small release of succinic acid only after 7 days. In the groups with S. epidermidis, the release of succinic acid was observed in the both presence and absence of amber beads, indicating that succinic acid is a product released by bacteria. CONCLUSIONS: It was found that amber beads do not exhibit the ability to release expressive succinic acid, especially in a short period of time, which does not justify their use in infants. The most production of succinic acid is tributed to S. epidermidis.
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The difficulty in swallowing is a frequent problem when oral solid dosage forms (conventional tablets or capsules) are administered to paediatric population or patients with dysphagia. An interesting alternative to overcome these problems are non-conventional formulations like chewable gels, commonly known as 'gummies'. Therefore, this work addresses the design, development and characterization of gummies using gelatine and pectin, for the vehiculization of the antiarrhythmic amiodarone (AMIO). Applying a Design of Experiments (DoE) approach, four gelatine (GG1-GG4) and eight pectin formulations (PG1-PG8) were developed. Considering the obtained results for responses during DoE evaluation (i.e., volume, syneresis, hardness, and gumminess), GG3 and PG8 were selected for complete characterization. Water activity, pH, drug content, texture parameters (adhesiveness, springiness, cohesiveness, and fracturability), disintegration time, in vitro dissolution, and microbiological features were evaluated. The obtained results were within the expected values for this type of formulation. The dissolution profiles showed a 94 % - 99 % of the AMIO content released for GG3 and PG8, respectively, so they could be considered suitable as immediate release dosage forms. In conclusion, the chewable gels were successfully developed and characterised, suggesting a potential means to accomplish a final prototype for the improvement of congenital cardiopathies treatment.
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Amiodarona , Antiarrítmicos , Géis , Cardiopatias Congênitas , Pectinas , Amiodarona/administração & dosagem , Amiodarona/química , Humanos , Pectinas/química , Antiarrítmicos/administração & dosagem , Antiarrítmicos/química , Cardiopatias Congênitas/tratamento farmacológico , Gelatina/química , Animais , Criança , Administração Oral , Liberação Controlada de Fármacos , Composição de Medicamentos/métodos , Solubilidade , Química Farmacêutica/métodosRESUMO
Cutis marmorata telangiectatica congenita is a rare congenital vascular malformation characterised by cutaneous vascular abnormalities, typically diagnosed at birth or in the early postnatal period. Although typically benign, this disease is associated with other systemic abnormalities, including rare ocular alterations, such as congenital glaucoma, cataracts and retinopathy.This manuscript describes a female infant, who presented with generalised livedo reticularis, a band of alopecia and cutaneous atrophy in the temporal region above the coronal suture. The patient was diagnosed with cutis marmorata telangiectatica congenita by a paediatrician, and an ophthalmological evaluation was requested. A funduscopy examination in both eyes showed temporal and superior retina with avascular areas with new vessels, venous dilations and shunts, and no retinal detachments. Given these findings, we performed retinal photocoagulation laser treatment with excellent results.This case report highlights the importance of early ophthalmological evaluation of children with this disease to prevent secondary complications, such as vitreous haemorrhage and tractional retinal detachment.
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Livedo Reticular , Dermatopatias Vasculares , Telangiectasia , Humanos , Feminino , Telangiectasia/congênito , Telangiectasia/complicações , Telangiectasia/diagnóstico , Dermatopatias Vasculares/diagnóstico , Dermatopatias Vasculares/complicações , Lactente , Fotocoagulação a Laser/métodos , Vasos Retinianos/anormalidades , Vasos Retinianos/diagnóstico por imagem , Retina/anormalidades , Retina/diagnóstico por imagemRESUMO
This is a case of primary hyperparathyroidism in a female teenager with multiple fractures and severe bone manifestations. The histopathology revealed atypical parathyroid adenoma, an exceedingly rare form of hyperparathyroidism; its main differential diagnosis is parathyroid carcinoma, as it shares both clinical and histological characteristics with it, in addition to its still uncertain malignant potential.
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Hiperparatireoidismo , Neoplasias das Paratireoides , Humanos , Adolescente , Feminino , Neoplasias das Paratireoides/diagnóstico , Neoplasias das Paratireoides/diagnóstico por imagem , Glândulas Paratireoides/diagnóstico por imagem , Glândulas Paratireoides/patologia , Osso e Ossos/patologiaRESUMO
OBJECTIVE: Conflicting evidence for the association between COVID-19 and adverse perinatal outcomes exists. This study examined the associations between maternal COVID-19 during pregnancy and adverse perinatal outcomes including preterm birth (PTB), low birth weight (LBW), small-for-gestational age (SGA), large-for-gestational age (LGA) and fetal death; as well as whether the associations differ by trimester of infection. DESIGN AND SETTING: The study used a retrospective Mexican birth cohort from the Instituto Mexicano del Seguro Social (IMSS), Mexico, between January 2020 and November 2021. PARTICIPANTS: We used the social security administrative dataset from IMSS that had COVID-19 information and linked it with the IMSS routine hospitalisation dataset, to identify deliveries in the study period with a test for SARS-CoV-2 during pregnancy. OUTCOME MEASURES: PTB, LBW, SGA, LGA and fetal death. We used targeted maximum likelihood estimators, to quantify associations (risk ratio, RR) and CIs. We fit models for the overall COVID-19 sample, and separately for those with mild or severe disease, and by trimester of infection. Additionally, we investigated potential bias induced by missing non-tested pregnancies. RESULTS: The overall sample comprised 17 340 singleton pregnancies, of which 30% tested positive. We found that those with mild COVID-19 had an RR of 0.89 (95% CI 0.80 to 0.99) for PTB and those with severe COVID-19 had an RR of 1.53 (95% CI 1.07 to 2.19) for LGA. COVID-19 in the first trimester was associated with fetal death, RR=2.36 (95% CI 1.04, 5.36). Results also demonstrate that missing non-tested pregnancies might induce bias in the associations. CONCLUSIONS: In the overall sample, there was no evidence of an association between COVID-19 and adverse perinatal outcomes. However, the findings suggest that severe COVID-19 may increase the risk of some perinatal outcomes, with the first trimester potentially being a high-risk period.
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COVID-19 , Nascimento Prematuro , Gravidez , Feminino , Recém-Nascido , Humanos , Nascimento Prematuro/epidemiologia , Estudos Retrospectivos , México/epidemiologia , COVID-19/epidemiologia , SARS-CoV-2 , Retardo do Crescimento Fetal/epidemiologia , Morte Fetal , Resultado da Gravidez/epidemiologiaRESUMO
INTRODUCTION: Neonatal mortality is a global public health challenge. Guatemala has the fifth highest neonatal mortality rate in Latin America, and Indigenous communities are particularly impacted. This study aims to understand factors driving neonatal mortality rates among Maya Kaqchikel communities. METHODS: We used sequential explanatory mixed methods. The quantitative phase was a secondary analysis of 2014-2016 data from the Global Maternal and Newborn Health Registry from Chimaltenango, Guatemala. Multivariate logistic regression models identified factors associated with perinatal and late neonatal mortality. A number of 33 in-depth interviews were conducted with mothers, traditional Maya midwives and local healthcare professionals to explain quantitative findings. RESULTS: Of 33 759 observations, 351 were lost to follow-up. There were 32 559 live births, 670 stillbirths (20/1000 births), 1265 (38/1000 births) perinatal deaths and 409 (12/1000 live births) late neonatal deaths. Factors identified to have statistically significant associations with a higher risk of perinatal or late neonatal mortality include lack of maternal education, maternal height <140 cm, maternal age under 20 or above 35, attending less than four antenatal visits, delivering without a skilled attendant, delivering at a health facility, preterm birth, congenital anomalies and presence of other obstetrical complications. Qualitative participants linked severe mental and emotional distress and inadequate maternal nutrition to heightened neonatal vulnerability. They also highlighted that mistrust in the healthcare system-fueled by language barriers and healthcare workers' use of coercive authority-delayed hospital presentations. They provided examples of cooperative relationships between traditional midwives and healthcare staff that resulted in positive outcomes. CONCLUSION: Structural social forces influence neonatal vulnerability in rural Guatemala. When coupled with healthcare system shortcomings, these forces increase mistrust and mortality. Collaborative relationships among healthcare staff, traditional midwives and families may disrupt this cycle.
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Indígenas Centro-Americanos , Morte Perinatal , Nascimento Prematuro , Gravidez , Recém-Nascido , Feminino , Humanos , Guatemala , Mortalidade Infantil , MãesRESUMO
BACKGROUND: The benefits of breast feeding may be associated with better formation of eating habits beyond childhood. This study was designed to verify the association between breast feeding and food consumption according to the degree of processing in four Brazilian birth cohorts. METHODS: The duration of exclusive, predominant and total breast feeding was evaluated. The analysis of the energy contribution of fresh or minimally processed foods (FMPF) and ultra-processed foods (UPF) in the diet was evaluated during childhood (13-36 months), adolescence (11-18 years) and adulthood (22, 23 and 30 years). RESULTS: Those who were predominantly breastfed for less than 4 months had a higher UPF consumption (ß 3.14, 95% CI 0.82 to 5.47) and a lower FMPF consumption (ß -3.47, 95% CI -5.91 to -1.02) at age 22 years in the 1993 cohort. Exclusive breast feeding (EBF) for less than 6 months was associated with increased UPF consumption (ß 1.75, 95% CI 0.25 to 3.24) and reduced FMPF consumption (ß -1.49, 95% CI -2.93 to -0.04) at age 11 years in the 2004 cohort. In this same cohort, total breast feeding for less than 12 months was associated with increased UPF consumption (ß 1.12, 95% CI 0.24 to 2.19) and decreased FMPF consumption (ß -1.13, 95% CI -2 .07 to -0.19). Children who did not receive EBF for 6 months showed an increase in the energy contribution of UPF (ß 2.36, 95% CI 0.53 to 4.18) and a decrease in FMPF (ß -2.33, 95% CI -4 .19 to -0.48) in the diet at 13-36 months in the 2010 cohort. In this cohort, children who were breastfed for less than 12 months in total had higher UPF consumption (ß 2.16, 95% CI 0.81 to 3.51) and lower FMPF consumption (ß -1.79, 95% CI -3.09 to -0.48). CONCLUSION: Exposure to breast feeding is associated with lower UPF consumption and higher FMPF consumption in childhood, adolescence and adulthood.
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Aleitamento Materno , Fast Foods , Criança , Feminino , Adolescente , Humanos , Adulto Jovem , Adulto , Estudos de Coortes , Brasil , Dieta , Manipulação de AlimentosRESUMO
RESUMEN Introducción: El trastorno de estrés postraumático (TEPT) se caracteriza por síntomas intrusivos, ansiosos y evitativos que se desencadenan luego de una experiencia estresante y afectan a la esfera del ánimo. La definición de un estresor que genera un TEPT ha estado en controversia en los últimos arios, ya que se puede presentar un cuadro clínico compatible con el trastorno tras la exposición a estresores que no cumplen el criterio A1 del DSM-V. Estos estresores se han definido en la literatura como «de baja magnitud, poco comunes, inusuales o atípicos¼. Caso clínico: Se presenta el caso clínico de un paciente en edad pediátrica en el que se desarrolló un TEPT luego de exponerse a un estresor atípico. Conclusiones: Se evidencia en la literatura que estos estresores se han documentado más a menudo en la población pediátrica, por lo cual se propone analizar los casos como un complejo entrecruzamiento de variables, de las que una de las más importantes es la interpretación que cada paciente hace del evento según su historia de vida y su contexto social, y no por una característica inherente al estresor en sí.
ABSTRACT Introduction: Post-traumatic stress disorder (PTSD) is characterised by intrusive, anxious, and avoidant symptoms that are triggered after a stressful experience and affect the mood. The definition of a stressor that generates PTSD has been debated in recent years, as a clinical picture compatible with the disorder can occur after exposure to stressors that do not meet the criteria A1 of the DSM V; these stressors have been defined in the literature as "of low magnitude, uncommon, unusual or atypical". Clinical case: We present the clinical case of a paediatric patient who developed PTSD after being exposed to an atypical stressor. Conclusions: The literature shows these stressors to be more frequently documented in the paediatric population. We therefore suggest that cases should be analysed as a complex interweaving of variables, where one of the most important is each patient's interpretation of the event according to their life history and social context, and not because of an inherent characteristic of the stressor itself.
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Respect for parents' values and clinician-parent collaboration is less common among families from historically marginalized communities. We investigated how parents from marginalized communities operationalize health and their preferences for paediatric primary care. We recruited families who spoke English, Haitian Creole or Spanish with at least one child younger than 6 years old. Staff queried families' values and life experiences, perspectives on health and healthcare, social supports and resources. Fourteen interviews with the parents of 26 children were thematically analysed. Interviews revealed the following four themes: (1) parents' definitions of 'health' extend beyond physical health; (2) families' ability to actuate health definitions is complicated by poverty's impact on agency; (3) parents engage in ongoing problem recognition and identify solutions, but enacting solutions can be derailed by barriers and (4) parents want support from professionals and peers who acknowledged the hard work of parenting. Eliciting parents' multidimensional conceptualizations of health can support families' goal achievement and concern identification in the context of isolation, limited agency and few resources. Efforts to improve family centred care and reduce disparities in paediatric primary care must be responsive to the strengths, challenges, resources and priorities of marginalized families.
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Formação de Conceito , Pais , Criança , Humanos , Haiti , Poder Familiar , Acontecimentos que Mudam a Vida , Pesquisa QualitativaRESUMO
OBJECTIVES: We aimed to investigate an outbreak of vancomycin-resistant Enterococcus faecium (VREfm) in paediatric patients from Hospital Pequeno Príncipe. The susceptibility profile was determined, and whole-genome sequencing (WGS) was used to analyse the genetic context of the strains. METHODS: Five VREfm isolates were recovered from sterile sites and surveillance cultures of two paediatric patients with acute lymphoblastic leukaemia. Species identification was performed using matrix-assisted laser desorption ionization time-of-flight mass spectrometry (MALDI-TOF MS), and the minimum inhibitory concentration (MIC) was assessed according to the European Committee for Antimicrobial Susceptibility Testing (EUCAST). WGS was performed to analyse the genetic context of virulence and resistance genes, and in silico multilocus sequence typing was performed to identify the sequence typing of the strains. RESULTS: High-level vancomycin resistance was observed in all isolates (≥256 mg/L). WGS revealed the presence of mobile genetic elements, such as plasmids (rep2, rep11a, repUS15, rep17, and rep18a), insertion sequences, and phages. Multiple resistance genes (aac(6')-aph(2"), dfrG, ermB, and vanA) and virulence genes (acm and efaAfm) were identified. All the isolates were assigned to ST117 (ST1133 - via a novel MLST), an important epidemic lineage associated with nosocomial infections and outbreaks. CONCLUSION: Our results show that the ST117 (ST1133) VREfm isolates are circulating in paediatric patients, which raises a great concern. The development of new drugs as well as the implementation of an antimicrobial stewardship program are necessary for their correct management, limiting the spread of resistance in oncohematological patients.
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Enterococcus faecium , Leucemia-Linfoma Linfoblástico de Células Precursoras , Enterococos Resistentes à Vancomicina , Humanos , Criança , Vancomicina/farmacologia , Tipagem de Sequências Multilocus , Brasil/epidemiologia , Genótipo , Enterococos Resistentes à Vancomicina/genética , Surtos de DoençasRESUMO
OBJECTIVE: To document the prevalence, clinical features, haematology and outcome of acute splenic sequestration (ASS) in homozygous sickle cell disease (HbSS). STUDY DESIGN: A cohort study from birth. SETTING: The Medical Research Council Laboratories at the University of the West Indies, Kingston, Jamaica. PATIENTS: 311 cases of HbSS detected during the screening of 100 000 deliveries at the main government maternity hospital between 1973 and 1981. INTERVENTIONS: Long-term follow-up and free patient care focusing on ASS. MAIN OUTCOME MEASURE: Acute splenic sequestration. RESULTS: There were 183 episodes of ASS in 105 patients representing 35% of the cohort. The median age for first event was 1.07 years. During ASS, median values for haemoglobin fell by 32 g/dL, reticulocytes increased by 8% and total nucleated cells increased by 10.5%. ASS recurred in 47 (45%) patients. Conservative therapy in 133 episodes of 85 patients was associated with five deaths and splenectomy in 20 patients with 50 episodes had no deaths. Symptoms were generally non-specific but acute chest syndrome occurred in 17, and blood cultures revealed coagulase negative staphylococci in 5. The ASS case fatality rate was 3.6% and may be higher if autopsy evidence of ASS is included. There was no seasonal pattern but higher levels of fetal haemoglobin predicted patients less prone to ASS and its later occurrence. CONCLUSIONS: ASS remains an important cause of morbidity and mortality in HbSS in developing societies. ASS appears to be a non-specific response to many possible risk factors including coagulase negative staphylococci.
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Anemia Falciforme , Coorte de Nascimento , Gravidez , Humanos , Feminino , Lactente , Estudos de Coortes , Jamaica/epidemiologia , Coagulase , Anemia Falciforme/complicações , Anemia Falciforme/epidemiologia , HemoglobinasRESUMO
In 2013, the SickKids-Caribbean Initiative (SCI) was formalised among The Hospital for Sick Children in Toronto, Canada, the University of the West Indies, and Ministries of Health in six Caribbean countries (Barbados, The Bahamas, Jamaica, St. Lucia, St. Vincent and the Grenadines, and Trinidad and Tobago). The aim was to improve the outcomes and quality of life of children (<18 years) with cancer and blood disorders in the partner countries. Core activities included filling a human resource gap by training paediatric haematologists/oncologists and specialised registered nurses; improving capacity to diagnose and treat diverse haematology/oncology cases; developing and maintaining paediatric oncology databases; creating ongoing advocacy activities with international agencies, decision makers, and civil society; and establishing an integrated administration, management, and funding structure. We describe core program components, successes, and challenges to inform others seeking to improve health service delivery in a multidisciplinary and complex partnership.
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Accessory mitral valve tissue is a rare congenital cardiac anomaly that is typically discovered incidentally during echocardiographic evaluation prompted by an asymptomatic murmur. This pathology has characteristic echocardiographic elements and is usually associated with other CHD. The decision to perform surgical resection depends on factors such as the degree of obstruction, presence of symptoms, presence of other CHDs, and risk of thrombosis. The researchers hereby present a case of an asymptomatic paediatric patient with accessory mitral valve tissue that produced left ventricular outflow tract obstruction.
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Insuficiência da Valva Mitral , Obstrução do Fluxo Ventricular Externo , Humanos , Criança , Valva Mitral/diagnóstico por imagem , Valva Mitral/cirurgia , Valva Mitral/anormalidades , Diagnóstico Diferencial , Obstrução do Fluxo Ventricular Externo/diagnóstico por imagem , Obstrução do Fluxo Ventricular Externo/complicações , Ecocardiografia , Insuficiência da Valva Mitral/cirurgiaRESUMO
Resumen Introducción: la enfermedad renal crónica (ERC) se asocia a complicaciones como la hiperpotasemia, que pueden afectar la calidad de vida de los niños que la padecen. Así la alimentación basada en plantas (ABP) cobra relevancia ya que muchos de los alimentos incluidos son fuentes de potasio (K) entre ellos: vegetales, frutas y legumbres. Sin embargo, realizar restricciones severas en estos grupos, podría asociarse a déficits nutricionales que pongan en riesgo el crecimiento y desarrollo de niños con ERC. Objetivos: describir el rol de la ABP y su aporte de K en el abordaje nutricional de pacientes pediátricos con ERC. Materiales y método: se realizó una revisión narrativa de artículos científicos publicados desde el año 2013 a 2023, utilizando las bases de datos: PUBMED, Scielo y el buscador Google Académico. Resultados: la ABP se asocia a beneficios como disminuir la progresión de la ERC, ser precursora de compuestos alcalinos, mejorar el tránsito y la microbiota intestinal. La ingesta de K a través de la ABP no tendría una relación directa con su concentración sérica. Sin embargo, se sugiere disminuir el consumo de productos ultraprocesados y considerar los factores no alimentarios que inciden en la potasemia, como primera medida. Clasificar los alimentos según la relación k/fibra permitiría incluir una mayor variedad. Los resultados referidos a las pérdidas de K por lixiviación no son concluyentes. Conclusiones: el abordaje nutricional de la ERC a través de una ABP tendría un impacto positivo que permitiría mejorar el control de la patología y disminuir la aparición de sus complicaciones. Se destaca el rol del Lic. en Nutrición en el asesoramiento respecto a la incorporación de alimentos según el perfil de nutrientes aportados, las características de sus componentes y su impacto en el metabolismo.
Abstract Introduction: chronic kidney disease (CKD) is associated with complications such as hyperkalemia, which can affect the quality of life of children who suffer from it. Thus, the plant-based diet (PBD) becomes relevant since many of the foods included are sources of potassium (K) such as vegetables, fruits and legumes. However, severe restrictions in these groups could be associated with nutritional deficits that jeopardize the growth and development of children with CKD. Objectives: to describe the role of PBD and its contribution of K in the dietary management of pediatric patients with CKD. Materials and method: a narrative review of scientific articles published from 2013 to 2023 was carried out, using the databases: PUBMED, Scielo and the Google Scholar search engine. Results: PBD is associated with benefits such as slowing the progression of CKD, being a precursor of alkaline compounds, improving transit and intestinal microbiota. The intake of K through PBD would not have a direct relationship with its serum concentration. However, it is suggested to reduce the consumption of ultra-processed products and consider the non-food factors that affect potassium, as a first measure. Classifying foods according to the k/fiber ratio would allow for greater variety. The results regarding K leaching losses are inconclusive. Conclusions: the nutritional approach to CKD through a PBD would have a positive impact that would improve the control of the pathology and reduce the appearance of its complications. The role of the nutritionist in advising on the incorporation of foods according to the profile of nutrients provided, the characteristics of their components and their impact on metabolism is highlighted.
Assuntos
Insuficiência Renal Crônica , Pacientes , Pediatria , PotássioRESUMO
INTRODUCTION: Photobiomodulation has been widely used as a complementary treatment for dentin hypersensitivity, with reports of clinical success. However, the literature offers only one study, in which photobiomodulation was used for the treatment of sensitivity in molars with molar incisor hypomineralisation (MIH). The aim of the proposed study is to determine whether photobiomodulation enhances the results of treatment with glass ionomer sealant on molars with MIH that present sensitivity. METHODS AND ANALYSIS: The study involves 50 patients from 6 to 12 years of age that will be randomly allocated in two groups. Group 1 (control group) (n=25): toothpaste with a concentration of fluoride ≤1000 ppm two times a day, glass ionomer sealant and sham low-level laser (LLL) and group 2 (n=25): toothpaste with a concentration of fluoride ≤1000 ppm two times a day, glass ionomer sealant and active LLL. The evaluations will involve MIH record, Simplified Oral Hygiene Index (OHI), Schiff Cold Air Sensitivity Scale (SCASS) and visual analogue scale (VAS) before the procedure. Immediately after the procedure, the hypersensitivity index (SCASS/VAS) will be registered. Records of OHI and SCASS/VAS will be registered after 48 hours as well as 1 month after the procedure. The persistence of the sealant will also be registered. It is expected that by the second consultation, a decrease in sensitivity will be observed due to the treatments received in the two groups. ETHICS AND DISSEMINATION: This protocol has been approved by the local medical ethical committee (certificate: CEUCU 220516). The findings will be published in a peer-reviewed journal. TRIAL REGISTRATION NUMBER: NCT05370417.