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1.
Arq Bras Cardiol ; 121(4): e20230480, 2024.
Artículo en Portugués, Inglés | MEDLINE | ID: mdl-38695470

RESUMEN

BACKGROUND: In pediatrics, cardiopulmonary arrest (CPA) is associated with high mortality and severe neurologic sequelae. Information on the causes and mechanisms of death below the age of 20 years could provide theoretical support for health improvement among children and adolescents. OBJECTIVES: To conduct a population analysis of mortality rates due to primary and multiple causes of death below the age of 20 years in both sexes from 1996 to 2019 in Brazil, and identify the frequency in which CPA was recorded in the death certificates (DCs) of these individuals and the locations where the deaths occurred, in order to promote strategies to improve the prevention of deaths. METHOD: Ecological time-series study of deaths below the age of 20 years from 1996 to 2019, evaluating the mortality rates (MRs) and proportional mortality (PM) by primary cause of death. We analyzed the percentages of CPA recorded in any line of the DC and the location where the deaths occurred. We calculated the MRs per 100,000 inhabitants and the PM by primary cause of death under the age of 20 years according to sex and age group, the percentages of death from primary causes by age group when CPA was described in any line of Parts I and II of the DC, and the percentage of deaths from primary causes according to their location of occurrence. We retrieved the data from DATASUS, IBGE, and SINASC. RESULTS: From 1996 to 2019, there were 2,151,716 deaths below the age of 20 years in Brazil, yielding a mortality rate of 134.38 per 100,000 inhabitants. The death rate was highest among male neonates. Of all deaths, 249,334 (11.6%) had CPA recorded in any line of the DC. Specifically, CPA was recorded in 49,178 DCs between the ages of 1 and 4 years and in 88,116 of those between the ages of 29 and 365 days, corresponding, respectively, to 26% and 22% of the deaths in these age groups. These two age groups had the highest rates of CPA recorded in any line of the DC. The main primary causes of death when CPA was recorded in the sequence of death were respiratory, hematologic, and neoplastic diseases. CONCLUSION: Perinatal and external causes were the primary causes of death, with highest MRs under the age of 20 years in Brazil from 1996 to 2019. When multiple causes of death were considered, the main primary causes associated with CPA were respiratory, hematologic, and neoplastic diseases. Most deaths occurred in the hospital environment. Better understanding of the sequence of events in these deaths and improvements in teaching strategies in pediatric cardiopulmonary resuscitation are needed.


FUNDAMENTO: Em pediatria, a parada cardiorrespiratória (PCR) está associada a alta mortalidade e graves sequelas neurológicas. Informações sobre as causas e mecanismos de morte abaixo de 20 anos poderiam fornecer subsídios teóricos para a melhoria da saúde de crianças e adolescentes. OBJETIVOS: Realizar uma análise populacional das taxas de mortalidade por causas primárias e múltiplas de morte abaixo de 20 anos, em ambos os sexos, no período de 1996 a 2019, no Brasil, e identificar a frequência com que a PCR foi registrada nas declarações de óbito (DOs) desses indivíduos e os locais de ocorrência dos óbitos, a fim de promover estratégias para melhorar a prevenção de mortes. MÉTODO: Estudo ecológico de séries temporais de óbitos em indivíduos menores de 20 anos, no período de 1996 a 2019, avaliando as taxas de mortalidade (TMs) e a mortalidade proporcional (MP) por causa básica de morte. Foram analisados os percentuais de PCR registrados em qualquer linha da DO e o local de ocorrência dos óbitos. Foram calculadas as TMs por 100 mil habitantes e a MP por causa básica de morte nos menores de 20 anos segundo sexo e faixa etária, os percentuais de óbito por causas básicas por faixa etária quando a PCR foi descrita em qualquer linha das Partes I e II da DO, e o percentual de óbitos por causas básicas segundo o local de ocorrência. Os dados foram retirados do DATASUS, IBGE e SINASC. RESULTADOS: De 1996 a 2019, ocorreram 2.151.716 óbitos de menores de 20 anos, no Brasil, gerando uma taxa de mortalidade de 134,38 por 100 mil habitantes. A taxa de óbito foi maior entre os recém-nascidos do sexo masculino. Do total de óbitos, 249.334 (11,6%) tiveram PCR registrada em qualquer linha da DO. Especificamente, a PCR foi registrada 49.178 vezes na DO na faixa etária entre 1 e 4 anos e em 88.116 vezes entre 29 e 365 dias, correspondendo, respectivamente, a 26% e 22% dos óbitos nessas faixas etárias. Essas duas faixas etárias apresentaram as maiores taxas de PCR registradas em qualquer linha da DO. As principais causas básicas de óbito quando a PCR foi registrada na sequência de óbitos foram doenças respiratórias, hematológicas e neoplásicas. CONCLUSÃO: As causas perinatais e externas foram as principais causas de morte, com maior TM nos menores de 20 anos no Brasil de 1996 a 2019. Quando consideradas as causas múltiplas de morte, as principais causas primárias associadas à PCR foram as doenças respiratórias, hematológicas e neoplásicas. A maioria dos óbitos ocorreu no ambiente hospitalar. Melhor compreensão da sequência de eventos nesses óbitos e melhorias nas estratégias de ensino em ressuscitação cardiopulmonar pediátrica são necessárias.


Asunto(s)
Causas de Muerte , Paro Cardíaco , Humanos , Brasil/epidemiología , Niño , Masculino , Femenino , Preescolar , Adolescente , Lactante , Recién Nacido , Paro Cardíaco/mortalidad , Adulto Joven , Distribución por Edad , Distribución por Sexo , Certificado de Defunción , Factores de Tiempo
2.
Einstein (Sao Paulo) ; 22: eAO0546, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38695477

RESUMEN

OBJECTIVE: The prevalent symptoms of severe dengue in pediatric patients are divided into three subgroups: severe plasma leakage, severe bleeding, and severe organ damage. In addition, the seasonal patterns of the disease and the outcomes of cure or death from dengue were evaluated. METHODS: An epidemiological, observational, analytical, cross-sectional study was conducted with data from the Notifiable Disease Information System (SINAN - Sistema de Informação de Agravos de Notificação and DATASUS - Departamento de Informática do Sistema Único de Saúde) of the Ministry of Health from 2019 to 2020. RESULTS: During the study period, 1,857 cases of severe dengue were observed in the pediatric age group, with the most common symptoms being respiratory failure, melena, hematemesis, and altered level of consciousness. The total proportion of patients hospitalized for severe dengue was 89.6%, and 51.2% of these patients died, corroborating the importance of early detection of the disease. CONCLUSION: Severe dengue is more prevalent during the seasonal period, with hot and humid characteristics owing to the mechanism involved in the viral cycle. The most prevalent symptoms of severe dengue in pediatric patients were respiratory failure alone, gastrointestinal bleeding, and altered level of consciousness. It is important to identify signs of severity for early intervention and a better prognosis, considering that death is closely related to a delayed diagnosis.


Asunto(s)
Estaciones del Año , Dengue Grave , Humanos , Estudios Transversales , Preescolar , Lactante , Dengue Grave/epidemiología , Dengue Grave/diagnóstico , Dengue Grave/mortalidad , Masculino , Femenino , Niño , Brasil/epidemiología , Recién Nacido , Índice de Severidad de la Enfermedad , Hospitalización/estadística & datos numéricos , Prevalencia
3.
Lancet Public Health ; 9(5): e282-e294, 2024 May.
Artículo en Inglés | MEDLINE | ID: mdl-38702093

RESUMEN

BACKGROUND: Sex and gender shape health. There is a growing body of evidence focused on comprehensively and systematically examining the magnitude, persistence, and nature of differences in health between females and males. Here, we aimed to quantify differences in the leading causes of disease burden between females and males across ages and geographies. METHODS: We used the Global Burden of Disease Study 2021 to compare disability-adjusted life-year (DALY) rates for females and males for the 20 leading causes of disease burden for individuals older than 10 years at the global level and across seven world regions, between 1990 and 2021. We present absolute and relative differences in the cause-specific DALY rates between females and males. FINDINGS: Globally, females had a higher burden of morbidity-driven conditions with the largest differences in DALYs for low back pain (with 478·5 [95% uncertainty interval 346·3-632·8] more DALYs per 100 000 individuals among females than males), depressive disorders (348·3 [241·3-471·0]), and headache disorders (332·9 [48·3-731·9]), whereas males had higher DALY rates for mortality-driven conditions with the largest differences in DALYs for COVID-19 (with 1767·8 [1581·1-1943·5] more DALYs per 100 000 among males than females), road injuries (1012·2 [934·1-1092·9]), and ischaemic heart disease (1611·8 [1405·0-1856·3]). The differences between sexes became larger over age and remained consistent over time for all conditions except HIV/AIDS. The largest difference in HIV/AIDS was observed among those aged 25-49 years in sub-Saharan Africa with 1724·8 (918·8-2613·7) more DALYs per 100 000 among females than males. INTERPRETATION: The notable health differences between females and males point to an urgent need for policies to be based on sex-specific and age-specific data. It is also important to continue promoting gender-sensitive research, and ultimately, implement interventions that not only reduce the burden of disease but also achieve greater health equity. FUNDING: Bill & Melinda Gates Foundation.


Asunto(s)
Años de Vida Ajustados por Discapacidad , Carga Global de Enfermedades , Humanos , Masculino , Femenino , Persona de Mediana Edad , Factores Sexuales , Adulto , Salud Global/estadística & datos numéricos , Anciano , Adolescente , Costo de Enfermedad , Adulto Joven , Longevidad , Niño , COVID-19/epidemiología
4.
J Int Med Res ; 52(5): 3000605241252115, 2024 May.
Artículo en Inglés | MEDLINE | ID: mdl-38713460

RESUMEN

OBJECTIVE: To assess the predictive value of the serum lipid profile for initial intravenous immunoglobulin (IVIG) resistance and coronary artery lesions (CALs) in patients with Kawasaki disease (KD). METHODS: This retrospective cohort study enrolled patients with KD and divided them into IVIG-responsive and IVIG-resistant groups. They were also stratified based on the presence of CALs (CALs and non-CALs groups). Clinical, echocardiographic and biochemical values were evaluated. A subgroup analysis was performed on complete and incomplete KD. Predictors of initial IVIG resistance and CALs were determined by multivariate logistic regression analysis. RESULTS: A total of 649 KD patients were enrolled: 151 had CALs and 76 had initial IVIG resistance. Low-density lipoprotein cholesterol (LDL-C) was significantly lower in the IVIG-resistant group than in the IVIG-responsive group. LDL-C and apolipoprotein (Apo) B were significantly lower in the CALs group compared with the non-CALs group. Multivariate logistic regression failed to identify the serum lipid profile (LDL-C, Apo A or Apo B) as an independent risk factor for initial IVIG resistance or CALs in KD patients. CONCLUSION: KD patients might have dyslipidaemia in the acute phase, but the serum lipid profile might not be suitable as a single predictor for initial IVIG resistance or CALs.


Asunto(s)
Enfermedad de la Arteria Coronaria , Inmunoglobulinas Intravenosas , Síndrome Mucocutáneo Linfonodular , Humanos , Síndrome Mucocutáneo Linfonodular/sangre , Síndrome Mucocutáneo Linfonodular/tratamiento farmacológico , Síndrome Mucocutáneo Linfonodular/complicaciones , Síndrome Mucocutáneo Linfonodular/diagnóstico , Inmunoglobulinas Intravenosas/uso terapéutico , Masculino , Femenino , Enfermedad de la Arteria Coronaria/sangre , Enfermedad de la Arteria Coronaria/tratamiento farmacológico , Enfermedad de la Arteria Coronaria/diagnóstico , Enfermedad de la Arteria Coronaria/inmunología , Preescolar , Estudios Retrospectivos , Lactante , LDL-Colesterol/sangre , Resistencia a Medicamentos , Lípidos/sangre , Niño , Vasos Coronarios/diagnóstico por imagen , Vasos Coronarios/patología , Factores de Riesgo , Apolipoproteínas B/sangre , Pronóstico
5.
Sci Data ; 11(1): 463, 2024 May 07.
Artículo en Inglés | MEDLINE | ID: mdl-38714688

RESUMEN

Adverse perinatal factors can interfere with the normal development of the brain, potentially resulting in long-term effects on the comprehensive development of children. Presently, the understanding of cognitive and neurodevelopmental processes under conditions of adverse perinatal factors is substantially limited. There is a critical need for an open resource that integrates various perinatal factors with the development of the brain and mental health to facilitate a deeper understanding of these developmental trajectories. In this Data Descriptor, we introduce a multicenter database containing information on perinatal factors that can potentially influence children's brain-mind development, namely, periCBD, that combines neuroimaging and behavioural phenotypes with perinatal factors at county/region/central district hospitals. PeriCBD was designed to establish a platform for the investigation of individual differences in brain-mind development associated with perinatal factors among children aged 3-10 years. Ultimately, our goal is to help understand how different adverse perinatal factors specifically impact cognitive development and neurodevelopment. Herein, we provide a systematic overview of the data acquisition/cleaning/quality control/sharing, processes of periCBD.


Asunto(s)
Encéfalo , Desarrollo Infantil , Niño , Preescolar , Humanos , Encéfalo/crecimiento & desarrollo , Encéfalo/diagnóstico por imagen , China , Cognición , Bases de Datos Factuales , Neuroimagen
6.
Trends Hear ; 28: 23312165241252240, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38715410

RESUMEN

In recent years, tools for early detection of irreversible trauma to the basilar membrane during hearing preservation cochlear implant (CI) surgery were established in several clinics. A link with the degree of postoperative hearing preservation in patients was investigated, but patient populations were usually small. Therefore, this study's aim was to analyze data from intraoperative extracochlear electrocochleography (ECochG) recordings for a larger group.During hearing preservation CI surgery, extracochlear recordings were made before, during, and after CI electrode insertion using a cotton wick electrode placed at the promontory. Before and after insertion, amplitudes and stimulus response thresholds were recorded at 250, 500, and 1000 Hz. During insertion, response amplitudes were recorded at one frequency and one stimulus level. Data from 121 patient ears were analyzed.The key benefit of extracochlear recordings is that they can be performed before, during, and after CI electrode insertion. However, extracochlear ECochG threshold changes before and after CI insertion were relatively small and did not independently correlate well with hearing preservation, although at 250 Hz they added some significant information. Some tendencies-although no significant relationships-were detected between amplitude behavior and hearing preservation. Rising amplitudes seem favorable and falling amplitudes disadvantageous, but constant amplitudes do not appear to allow stringent predictions.Extracochlear ECochG measurements seem to only partially realize expected benefits. The questions now are: do gains justify the effort, and do other procedures or possible combinations lead to greater benefits for patients?


Asunto(s)
Audiometría de Respuesta Evocada , Umbral Auditivo , Cóclea , Implantación Coclear , Implantes Cocleares , Audición , Humanos , Audiometría de Respuesta Evocada/métodos , Estudios Retrospectivos , Implantación Coclear/instrumentación , Femenino , Persona de Mediana Edad , Masculino , Anciano , Adulto , Audición/fisiología , Cóclea/cirugía , Cóclea/fisiopatología , Resultado del Tratamiento , Adolescente , Valor Predictivo de las Pruebas , Adulto Joven , Niño , Audiometría de Tonos Puros , Anciano de 80 o más Años , Preescolar , Pérdida Auditiva/diagnóstico , Pérdida Auditiva/fisiopatología , Pérdida Auditiva/cirugía , Pérdida Auditiva/rehabilitación
7.
Rev Assoc Med Bras (1992) ; 70(4): e20230972, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38716934

RESUMEN

OBJECTIVE: Our objective was to determine the frequency of rotavirus, adenovirus, and rota-adenovirus co-infections and investigate the fecal leukocyte rate associated with these infections in patients with gastroenteritis. METHODS: This is a retrospective study. We identified patients who were admitted to the pediatric emergency department with acute gastroenteritis and had their stool samples tested for rotavirus and/or adenovirus antigens. Among them, we determined the individuals who underwent stool microscopy tests on the same day and recorded their results. RESULTS: A total of 1,577 patients who underwent testing for rotavirus and/or adenovirus antigens in their stool samples were identified. Among these patients, 583 individuals had concurrent fecal microscopy results. The prevalence of solely rotavirus antigen positivity was 16.4%, solely adenovirus antigen positivity was 2.9%, and rota-adenovirus co-infections were detected in 1.8% of the children. The fecal leukocyte rates in children infected with rotavirus, adenovirus, and rota-adenovirus co-infections were 4.8, 13.3, and 88.9%, respectively. CONCLUSION: The presence of fecal leukocytes was detected at a high rate in cases of viral gastroenteritis, especially in rota-adenovirus co-infections. Therefore, clinicians should not consider only bacterial pathogens in the presence of fecal leukocytes.


Asunto(s)
Coinfección , Heces , Gastroenteritis , Infecciones por Rotavirus , Humanos , Gastroenteritis/virología , Gastroenteritis/epidemiología , Estudios Retrospectivos , Heces/virología , Femenino , Masculino , Preescolar , Lactante , Infecciones por Rotavirus/epidemiología , Enfermedad Aguda , Coinfección/epidemiología , Niño , Recuento de Leucocitos , Infecciones por Adenovirus Humanos/epidemiología , Infecciones por Adenoviridae/epidemiología , Leucocitos , Rotavirus/aislamiento & purificación , Rotavirus/inmunología , Adenoviridae/aislamiento & purificación
8.
JAMA Netw Open ; 7(5): e2410432, 2024 May 01.
Artículo en Inglés | MEDLINE | ID: mdl-38717771

RESUMEN

Importance: The burden of the US opioid crisis has fallen heavily on children, a vulnerable population increasingly exposed to parental opioid use disorder (POUD) in utero or during childhood. A paucity of studies have investigated foster care involvement among those experiencing parental opioid use during childhood and the associated health and health care outcomes. Objective: To examine the health and health care outcomes of children experiencing POUD with and without foster care involvement. Design, Setting, and Participants: This population-based cohort study used nationwide Medicaid claims data from January 1, 2014, to December 31, 2020. Participants included Medicaid-enrolled children experiencing parental opioid use-related disorder during ages 4 to 18 years. Data were analyzed between January 2023 and February 2024. Exposure: Person-years with (exposed) and without (nonexposed) foster care involvement, identified using Medicaid eligibility, procedure, and diagnostic codes. Main Outcomes and Measures: The main outcomes included physical and mental health conditions, developmental disorders, substance use, and health care utilization. The Pearson χ2 test, the t test, and linear regression were used to compare outcomes in person-years with (exposed) and without (nonexposed) foster care involvement. An event study design was used to examine health care utilization patterns before and after foster care involvement. Results: In a longitudinal sample of 8 939 666 person-years from 1 985 180 Medicaid-enrolled children, 49% of children were females and 51% were males. Their mean (SD) age was 10 (4.2) years. The prevalence of foster care involvement was 3% (276 456 person-years), increasing from 1.5% in 2014 to 4.7% in 2020. Compared with those without foster care involvement (8 663 210 person-years), foster care involvement was associated with a higher prevalence of developmental delays (12% vs 7%), depression (10% vs 4%), trauma and stress (35% vs 7%), and substance use-related disorders (4% vs 1%; P < .001 for all). Foster children had higher rates of health care utilization across a wide array of preventive services, including well-child visits (64% vs 44%) and immunizations (41% vs 31%; P < .001 for all). Health care utilization increased sharply in the first year entering foster care but decreased as children exited care. Conclusions and Relevance: In this cohort study of Medicaid-enrolled children experiencing parental opioid use-related disorder, foster care involvement increased significantly between 2014 and 2020. Involvement was associated with increased rates of adverse health outcomes and health care utilization. These findings underscore the importance of policies that support children and families affected by opioid use disorder, as well as the systems that serve them.


Asunto(s)
Cuidados en el Hogar de Adopción , Medicaid , Trastornos Relacionados con Opioides , Humanos , Medicaid/estadística & datos numéricos , Estados Unidos/epidemiología , Niño , Femenino , Masculino , Trastornos Relacionados con Opioides/epidemiología , Cuidados en el Hogar de Adopción/estadística & datos numéricos , Preescolar , Adolescente , Estudios de Cohortes , Hijo de Padres Discapacitados/estadística & datos numéricos , Hijo de Padres Discapacitados/psicología
9.
Sci Rep ; 14(1): 10541, 2024 05 08.
Artículo en Inglés | MEDLINE | ID: mdl-38719835

RESUMEN

To examine the joint association of electronic screen time (EST), moderate-to-vigorous physical activity time (MVPA) and overweight/obesity with early pubertal development (EPD) in girls. A case-control study of 177 EPD girls and 354 girls with normal pubertal development was conducted between October 2019 and August 2022. Overweight/obesity was defined as body mass index ≥ 85th percentiles for age and sex. We found a non-significant increase of EPD risk among girls with high EST alone [OR: 2.75 (0.65-11.58)] or low MVPA alone [OR: 2.54 (0.74-8.69)], but a significant increase of EPD risk among girls with overweight/obesity alone [OR: 4.91 (1.01-23.92)], compared to girls without any of the three risk factors (low MVPA, high EST and overweight/obesity). Girls with any two of the three risk factors faced increased risk of EPD, and girls with all three risk factors faced the highest risk of EPD [OR and 95% CI: 26.10 (6.40-106.45)]. Being overweight/obesity might be more important than having low MVPA or high EST as a correlate of EPD compared to girls without any of the three risk factors, but the co-presence of low MVPA, high EST and overweight/obesity would largely increase the risk of EPD in girls.


Asunto(s)
Ejercicio Físico , Pubertad , Tiempo de Pantalla , Humanos , Femenino , Estudios de Casos y Controles , Niño , Pubertad/fisiología , Factores de Riesgo , Índice de Masa Corporal , Sobrepeso , Adolescente , Obesidad Infantil/epidemiología , Obesidad/epidemiología
10.
Sci Rep ; 14(1): 10585, 2024 05 08.
Artículo en Inglés | MEDLINE | ID: mdl-38719868

RESUMEN

Here, a comprehensive study was designed to estimate the human risk assessment attributed to exposure of polycyclic aromatic hydrocarbons (PAHs)in sediment and fish in most polluted shore area in north of Persian Gulf. To this end, a total of 20 sediment and inhabitual Fish, as one of most commercial fish, samples were randomly collected from 20 different stations along Bushehr Province coastline. The 16 different components of PAHs were extracted from sediment and edible parts of inhabitual fish and measured with high-performance liquid chromatography (HPLC) and gas chromatography (GC), respectively. In addition, dietary daily intake (DDI) values of PAHs via ingestion Indian halibut and the incremental lifetime cancer risk (ILCR) attributed to human exposure to sediments PAHs via (a) inhalation, (b) ingestion, and (c) dermal contact for two groups of ages: children (1-11 years) and adults (18-70 years) were estimated. The results indicated that all individual PAHs except for Benzo(b)flouranthene (BbF) and Benzo(ghi) perylene (BgP) were detected in different sediment sample throughout the study area with average concentration between 2.275 ± 4.993 mg.kg-1 dw. Furthermore, Naphthalene (Nap) with highest average concentration of 3.906 ± 3.039 mg.kg-1 dw was measured at the Indian halibut. In addition, the human risk analysis indicated that excess cancer risk (ECR) attributed to PAHs in sediment and fish in Asaluyeh with high industrial activities on oil and derivatives were higher the value recommended by USEPA (10-6). Therefore, a comprehensive analysis on spatial distribution and human risk assessment of PAHs in sediment and fish can improve the awareness on environmental threat in order to aid authorities and decision maker to find a sustainable solution.


Asunto(s)
Peces , Sedimentos Geológicos , Hidrocarburos Policíclicos Aromáticos , Humanos , Hidrocarburos Policíclicos Aromáticos/análisis , Hidrocarburos Policíclicos Aromáticos/toxicidad , Sedimentos Geológicos/análisis , Sedimentos Geológicos/química , Océano Índico , Animales , Medición de Riesgo , Adulto , Contaminantes Químicos del Agua/análisis , Niño , Adolescente , Persona de Mediana Edad , Adulto Joven , Preescolar , Anciano , Lactante , Monitoreo del Ambiente
11.
Sci Rep ; 14(1): 10589, 2024 05 08.
Artículo en Inglés | MEDLINE | ID: mdl-38719926

RESUMEN

Maturity Onset Diabetes of the Young (MODY) is a young-onset, monogenic form of diabetes without needing insulin treatment. Diagnostic testing is expensive. To aid decisions on who to test, we aimed to develop a MODY probability calculator for paediatric cases at the time of diabetes diagnosis, when the existing "MODY calculator" cannot be used. Firth logistic regression models were developed on data from 3541 paediatric patients from the Swedish 'Better Diabetes Diagnosis' (BDD) population study (n = 46 (1.3%) MODY (HNF1A, HNF4A, GCK)). Model performance was compared to using islet autoantibody testing. HbA1c, parent with diabetes, and absence of polyuria were significant independent predictors of MODY. The model showed excellent discrimination (c-statistic = 0.963) and calibrated well (Brier score = 0.01). MODY probability > 1.3% (ie. above background prevalence) had similar performance to being negative for all 3 antibodies (positive predictive value (PPV) = 10% v 11% respectively i.e. ~ 1 in 10 positive test rate). Probability > 1.3% and negative for 3 islet autoantibodies narrowed down to 4% of the cohort, and detected 96% of MODY cases (PPV = 31%). This MODY calculator for paediatric patients at time of diabetes diagnosis will help target genetic testing to those most likely to benefit, to get the right diagnosis.


Asunto(s)
Diabetes Mellitus Tipo 2 , Humanos , Diabetes Mellitus Tipo 2/diagnóstico , Diabetes Mellitus Tipo 2/genética , Niño , Masculino , Femenino , Adolescente , Factor Nuclear 4 del Hepatocito/genética , Factor Nuclear 1-alfa del Hepatocito/genética , Preescolar , Autoanticuerpos/sangre , Autoanticuerpos/inmunología , Hemoglobina Glucada/análisis , Quinasas del Centro Germinal/genética , Suecia , Glucoquinasa/genética
12.
Sci Rep ; 14(1): 10551, 2024 05 08.
Artículo en Inglés | MEDLINE | ID: mdl-38719929

RESUMEN

Our purpose was to elucidate the genotype and ophthalmological and audiological phenotype in TUBB4B-associated inherited retinal dystrophy (IRD) and sensorineural hearing loss (SNHL), and to model the effects of all possible amino acid substitutions at the hotspot codons Arg390 and Arg391. Six patients from five families with heterozygous missense variants in TUBB4B were included in this observational study. Ophthalmological testing included best-corrected visual acuity, fundus examination, optical coherence tomography, fundus autofluorescence imaging, and full-field electroretinography (ERG). Audiological examination included pure-tone and speech audiometry in adult patients and auditory brainstem response testing in a child. Genetic testing was performed by disease gene panel analysis based on genome sequencing. The molecular consequences of the substitutions of residues 390 and 391 on TUBB4B and its interaction with α-tubulin were predicted in silico on its three-dimensional structure obtained by homology modelling. Two independent patients had amino acid exchanges at position 391 (p.(Arg391His) or p.(Arg391Cys)) of the TUBB4B protein. Both had a distinct IRD phenotype with peripheral round yellowish lesions with pigmented spots and mild or moderate SNHL, respectively. Yet the phenotype was milder with a sectorial pattern of bone spicules in one patient, likely due to a genetically confirmed mosaicism for p.(Arg391His). Three patients were heterozygous for an amino acid exchange at position 390 (p.(Arg390Gln) or p.(Arg390Trp)) and presented with another distinct retinal phenotype with well demarcated pericentral retinitis pigmentosa. All showed SNHL ranging from mild to severe. One additional patient showed a variant distinct from codon 390 or 391 (p.(Tyr310His)), and presented with congenital profound hearing loss and reduced responses in ERG. Variants at codon positions 390 and 391 were predicted to decrease the structural stability of TUBB4B and its complex with α-tubulin, as well as the complex affinity. In conclusion, the twofold larger reduction in heterodimer affinity exhibited by Arg391 substitutions suggested an association with the more severe retinal phenotype, compared to the substitution at Arg390.


Asunto(s)
Codón , Pérdida Auditiva Sensorineural , Fenotipo , Tubulina (Proteína) , Humanos , Femenino , Tubulina (Proteína)/genética , Tubulina (Proteína)/química , Masculino , Adulto , Pérdida Auditiva Sensorineural/genética , Codón/genética , Persona de Mediana Edad , Mutación Missense , Niño , Linaje , Adolescente , Sustitución de Aminoácidos , Adulto Joven , Retinitis Pigmentosa/genética
13.
BMC Pediatr ; 24(1): 317, 2024 May 08.
Artículo en Inglés | MEDLINE | ID: mdl-38720245

RESUMEN

BACKGROUND: Patients with Turner syndrome (TS) face an increased risk of developing aortic dilatation (AD), but diagnosing AD in children presents greater complexity compared to adults. This study aimed to investigate the application of various assessment indicators of AD in Chinese children and adolescents with TS. METHODS: This study included TS patients admitted to Shenzhen Children's Hospital from 2017 to 2022. Cardiovascular lesions were diagnosed by experienced radiologists. Patients without structural heart disease were divided into different body surface area groups, then the Chinese TS population Z-score (CHTSZ-score) of the ascending aorta was calculated and compared with other indicators such as aortic size index (ASI), ratio of the ascending to descending aortic diameter (A/D ratio), and TSZ-score (Quezada's method). RESULTS: A total of 115 TS patients were included, with an average age of 10.0 ± 3.7 years. The incidences of the three most serious cardiovascular complications were 9.6% (AD), 10.4% (coarctation of the aorta, CoA), and 7.0% (bicuspid aortic valve, BAV), respectively. The proportion of developing AD in TS patients aged ≥ 10 years was higher than that in those < 10 years old (16.6% vs. 1.8%, P = 0.009), and the proportion of patients with CoA or BAV who additionally exhibited AD was higher than those without these conditions (31.6% vs. 5.2%, P < 0.001). The ASI, A/D ratio, TSZ-score, and CHTSZ-score of the 11 patients with AD were 2.27 ± 0.40 cm/m2, 1.90 ± 0.37, 1.28 ± 1.08, and 3.07 ± 2.20, respectively. Among the AD patients, only 3 cases had a TSZ-score ≥ 2, and 2 cases had a TSZ-score ≥ 1. However, based on the assessment using the CHTSZ-score, 6 patients scored ≥ 2, and 5 patients scored ≥ 1. In contrast, the TSZ-score generally underestimated the aortic Z-scores in Chinese children with TS compared to the CHTSZ-score. CONCLUSIONS: The applicability of ASI and A/D ratio to children with TS is questionable, and racial differences can affect the assessment of TSZ-score in the Chinese population. Therefore, establishing the CHTSZ-score specifically tailored for Chinese children and adolescents is of paramount importance.


Asunto(s)
Síndrome de Turner , Humanos , Síndrome de Turner/complicaciones , Niño , Adolescente , Femenino , China/epidemiología , Dilatación Patológica/etiología , Masculino , Estudios Retrospectivos , Aorta/patología , Aorta/diagnóstico por imagen , Coartación Aórtica , Enfermedad de la Válvula Aórtica Bicúspide/complicaciones , Preescolar , Incidencia , Pueblos del Este de Asia
14.
Malar J ; 23(1): 138, 2024 May 08.
Artículo en Inglés | MEDLINE | ID: mdl-38720269

RESUMEN

BACKGROUND: Artemisinin resistance in Plasmodium falciparum threatens global malaria elimination efforts. To contain and then eliminate artemisinin resistance in Eastern Myanmar a network of community-based malaria posts was instituted and targeted mass drug administration (MDA) with dihydroartemisinin-piperaquine (three rounds at monthly intervals) was conducted. The prevalence of artemisinin resistance during the elimination campaign (2013-2019) was characterized. METHODS: Throughout the six-year campaign Plasmodium falciparum positive blood samples from symptomatic patients and from cross-sectional surveys were genotyped for mutations in kelch-13-a molecular marker of artemisinin resistance. RESULT: The program resulted in near elimination of falciparum malaria. Of 5162 P. falciparum positive blood samples genotyped, 3281 (63.6%) had K13 mutations. The prevalence of K13 mutations was 73.9% in 2013 and 64.4% in 2019. Overall, there was a small but significant decline in the proportion of K13 mutants (p < 0.001). In the MDA villages there was no significant change in the K13 proportions before and after MDA. The distribution of different K13 mutations changed substantially; F446I and P441L mutations increased in both MDA and non-MDA villages, while most other K13 mutations decreased. The proportion of C580Y mutations fell from 9.2% (43/467) before MDA to 2.3% (19/813) after MDA (p < 0.001). Similar changes occurred in the 487 villages where MDA was not conducted. CONCLUSION: The malaria elimination program in Kayin state, eastern Myanmar, led to a substantial reduction in falciparum malaria. Despite the intense use of artemisinin-based combination therapies, both in treatment and MDA, this did not select for artemisinin resistance.


Asunto(s)
Antimaláricos , Artemisininas , Resistencia a Medicamentos , Malaria Falciparum , Plasmodium falciparum , Artemisininas/farmacología , Artemisininas/uso terapéutico , Mianmar , Malaria Falciparum/parasitología , Malaria Falciparum/epidemiología , Antimaláricos/farmacología , Antimaláricos/uso terapéutico , Resistencia a Medicamentos/genética , Plasmodium falciparum/efectos de los fármacos , Plasmodium falciparum/genética , Humanos , Estudios Transversales , Femenino , Masculino , Adolescente , Adulto , Administración Masiva de Medicamentos , Adulto Joven , Mutación , Niño , Preescolar , Persona de Mediana Edad , Quinolinas/farmacología , Quinolinas/uso terapéutico , Erradicación de la Enfermedad/estadística & datos numéricos , Piperazinas
15.
BMC Pediatr ; 24(1): 318, 2024 May 08.
Artículo en Inglés | MEDLINE | ID: mdl-38720281

RESUMEN

Reading learning disability (RLD) is characterized by a specific difficulty in learning to read that is not better explained by an intellectual disability, lack of instruction, psychosocial adversity, or a neurological disorder. According to the domain-general hypothesis, a working memory deficit is the primary problem. Working memory in this population has recently been linked to altered resting-state functional connectivity within the default mode network (DMN), salience network (SN), and frontoparietal network (FPN) compared to that in typically developing individuals. The main purpose of the present study was to compare the within-network functional connectivity of the DMN, SN, FPN, and reading network in two groups of children with RLD: a group with lower-than-average working memory (LWM) and a group with average working memory (AWM). All subjects underwent resting-state functional magnetic resonance imaging (fMRI), and data were analyzed from a network perspective using the network brain statistics framework. The results showed that the LWM group had significantly weaker connectivity in a network that involved brain regions in the DMN, SN, and FPN than the AWM group. Although there was no significant difference between groups in reading network in the present study, other studies have shown relationship of the connectivity of the angular gyrus, supramarginal gyrus, and inferior parietal lobe with the phonological process of reading. The results suggest that although there are significant differences in functional connectivity in the associated networks between children with LWM and AWM, the distinctive cognitive profile has no specific effect on the reading network.


Asunto(s)
Dislexia , Imagen por Resonancia Magnética , Memoria a Corto Plazo , Humanos , Memoria a Corto Plazo/fisiología , Niño , Masculino , Femenino , Dislexia/fisiopatología , Dislexia/diagnóstico por imagen , Encéfalo/diagnóstico por imagen , Encéfalo/fisiopatología , Red Nerviosa/diagnóstico por imagen , Red Nerviosa/fisiopatología , Lectura , Estudios de Casos y Controles
16.
BMC Cancer ; 24(1): 572, 2024 May 08.
Artículo en Inglés | MEDLINE | ID: mdl-38720306

RESUMEN

BACKGROUND: Postoperative central diabetes insipidus (CDI) is commonly observed in craniopharyngioma (CP) patients, and the inflammatory response plays an important role in CPs. We aimed to evaluate the predictive value of preoperative peripheral inflammatory markers and their combinations regarding CDI occurrence in CPs. METHODS: The clinical data including preoperative peripheral inflammatory markers of 208 CP patients who underwent surgical treatment were retrospectively collected and analyzed. The preoperative peripheral white blood cells (WBC), neutrophils, lymphocytes, monocytes, platelet (PLT), neutrophil-to-lymphocyte ratio (NLR), derived-NLR (dNLR), monocyte-to-lymphocyte ratio (MLR) and PLT-to-lymphocyte ratio (PLR) were assessed in total 208 CP patients and different age and surgical approach CP patient subgroups. Their predictive values were evaluated by the receiver operator characteristic curve analysis. RESULTS: Preoperative peripheral WBC, neutrophils, NLR, dNLR, MLR, and PLR were positively correlated and lymphocyte was negatively associated with postoperative CDI occurrence in CP patients, especially when WBC ≥ 6.66 × 109/L or lymphocyte ≤ 1.86 × 109/L. Meanwhile, multiple logistic regression analysis showed that WBC > 6.39 × 109/L in the > 18 yrs age patients, WBC > 6.88 × 109/L or lymphocytes ≤ 1.85 × 109/L in the transcranial approach patients were closely associated with the elevated incidence of postoperative CDI. Furthermore, the area under the curve obtained from the receiver operator characteristic curve analysis showed that the best predictors of inflammatory markers were the NLR in total CP patients, the MLR in the ≤ 18 yrs age group and the transsphenoidal group, the NLR in the > 18 yrs age group and the dNLR in the transcranial group. Notably, the combination index NLR + dNLR demonstrated the most valuable predictor in all groups. CONCLUSIONS: Preoperative peripheral inflammatory markers, especially WBC, lymphocytes and NLR + dNLR, are promising predictors of postoperative CDI in CPs.


Asunto(s)
Craneofaringioma , Diabetes Insípida Neurogénica , Neoplasias Hipofisarias , Complicaciones Posoperatorias , Humanos , Craneofaringioma/cirugía , Craneofaringioma/sangre , Craneofaringioma/complicaciones , Femenino , Masculino , Estudios Retrospectivos , Adulto , Neoplasias Hipofisarias/cirugía , Neoplasias Hipofisarias/sangre , Neoplasias Hipofisarias/complicaciones , Complicaciones Posoperatorias/sangre , Complicaciones Posoperatorias/etiología , Complicaciones Posoperatorias/diagnóstico , Adolescente , Persona de Mediana Edad , Niño , Adulto Joven , Diabetes Insípida Neurogénica/sangre , Diabetes Insípida Neurogénica/etiología , Neutrófilos , Biomarcadores/sangre , Linfocitos , Inflamación/sangre , Recuento de Leucocitos , Periodo Preoperatorio , Preescolar , Pronóstico , Curva ROC
17.
BMC Palliat Care ; 23(1): 118, 2024 May 08.
Artículo en Inglés | MEDLINE | ID: mdl-38720316

RESUMEN

BACKGROUND: To strengthen palliative care for children in the Nordic countries, an updated status of current needs, resources, clinical services, education, and research is necessary to align and consolidate future research. A Nordic research collaboration initiative for children with palliative care needs was assembled in 2023. Building on this initiative, this paper presents an overview of pediatric palliative care (PPC) in the Nordic countries' (a) population characteristics, (b) care models and setting of care, (c) education and training, and (d) research. METHODS: The Nordic initiative researchers collaboratively gathered and assessed available data on the characteristics of PPC within Denmark, Finland, Greenland, Iceland, Norway, the Faroe Islands, Sweden, and Åland. Data were compiled in a matrix with population characteristics, models- and setting of care, education and training, and areas of research in a Nordic context. The findings are narratively and descriptively presented, providing an overview of Nordic PPC. RESULTS: In total, the Nordic child population comprises around six million children (0-19 years), of which about 41.200 are estimated to be living with a life-limiting and/or life-threatening condition. Healthcare services are provided through various care models, ranging from specialized care to homecare settings. Overall, there remain few opportunities for education and training with some exceptions. Also, Nordic research within PPC has been shown to be a growing field although much remains to be done. CONCLUSION: This overview is the first outline of the current PPC in Nordic countries. Although some differences remain important to acknowledge, overall, the strengths and challenges faced within PPC in the Nordic countries are comparable and call for joint action to increase evidence, services, and education to better serve the children, families, and healthcare personnel within PPC. Despite the varying structural premises for PPC, research endeavors aiming to provide evidence in this field seem increasing, timely and relevant for the Nordic countries, as well as the international context.


Asunto(s)
Cuidados Paliativos , Humanos , Cuidados Paliativos/métodos , Cuidados Paliativos/tendencias , Cuidados Paliativos/normas , Países Escandinavos y Nórdicos , Niño , Lactante , Preescolar , Adolescente , Recién Nacido , Necesidades y Demandas de Servicios de Salud/tendencias , Pediatría/métodos , Pediatría/tendencias
18.
Eur J Med Res ; 29(1): 274, 2024 May 08.
Artículo en Inglés | MEDLINE | ID: mdl-38720334

RESUMEN

PURPOSE: To compare the effects of a single-port-plus-one robotic laparoscopic-modified Lich-Gregoir direct nipple approach and traditional laparoscopic Cohen in treating pediatric primary obstructive megaureter. MATERIALS AND METHODS: The clinical data of 24 children with primary obstructive megaureter from January 2021 to November 2021 were analyzed retrospectively. Among them, 12 children (8 boys and 4 girls, the average age were 17.17 ± 6.31 months) treated with the laparoscopic Cohen method were defined as group C. The remaining 12 children (7 boys and 5 girls, the average age was 17.33 ± 6.99 months) underwent single-port-plus-one robotic laparoscopic-modified Lich-Gregoir direct nipple ureteral extravesical reimplantation were defined as group L. The parameters of pre-operation, intraoperative and postoperative were compared. RESULTS: There were no differences in the patient characteristics and average follow-up time between the two groups (P > 0.05).The obstruction resolution rate was 100% in both groups. The total operation time in group L is slightly longer than that in group C(P < 0.001),but the intraperitoneal operation time of the two groups was comparable(P > 0.05). The postoperative parameters included blood loss, gross haematuria time, indwelling catheterization time and hospitalization time in group L is shorter than group C(P < 0.05). One year post-operation, decreasing in ureteral diameter and APRPD, and increasing in DRF were remarkably observed in both two groups(P < 0.05). Ureteral diameter, APRPD, and DRF were not significantly different both in pre-operation and post-operation between Group L and Group C(P > 0.05). CONCLUSION: Single-port-plus-one robot-assisted laparoscopic-modified Lich-Gregoir direct nipple approach and traditional laparoscopic Cohen are both dependable techniques for ureteral reimplantation in the treatment of pediatric primary obstructive megaureter. Since Lich-Gregoir can preserve the physiological direction of the ureter and direct nipple reimplantation enhances the effect of anti-refluxing, this technique is favorable for being promoted and applied in robot surgery.


Asunto(s)
Laparoscopía , Reimplantación , Procedimientos Quirúrgicos Robotizados , Uréter , Obstrucción Ureteral , Humanos , Femenino , Masculino , Procedimientos Quirúrgicos Robotizados/métodos , Laparoscopía/métodos , Obstrucción Ureteral/cirugía , Uréter/cirugía , Reimplantación/métodos , Estudios Retrospectivos , Preescolar , Lactante , Niño , Tempo Operativo , Resultado del Tratamiento
19.
J Ovarian Res ; 17(1): 96, 2024 May 08.
Artículo en Inglés | MEDLINE | ID: mdl-38720349

RESUMEN

OBJECTIVE: To describe the characteristics of children and adolescents with borderline ovarian tumors (BOTs) and evaluate the efficacy and safety of fertility-sparing surgery (FSS) in these patients. METHODS: Patients with BOTs younger than 20 years who underwent FSS were included in this study. RESULTS: A total of 34 patients were included, with a median patient age of 17 (range, 3-19) years; 97.1% (33/34) of cases occurred after menarche. Of the patients, 82.4% had mucinous borderline tumors (MBOTs), 14.7% had serous borderline tumors (SBOTs), and 2.9% had seromucinous borderline tumor (SMBOT). The median tumor size was 20.4 (range, 8-40)cm. All patients were at International Federation of Gynecology and Obstetrics stage I and all underwent FSS: cystectomy (unilateral ovarian cystectomy, UC, 14/34, 41.2% and bilateral ovarian cystectomy, BC, 1/34, 2.9%), unilateral salpingo-oophorectomy (USO; 18/34; 52.9%), or USO + contralateral ovarian cystectomy (1/34; 2.9%). The median follow-up time was 65 (range, 10-148) months. Recurrence was experienced by 10 of the 34 patients (29.4%). One patient with SBOT experienced progression to low-grade serous carcinoma after the third relapse. Two patients had a total of four pregnancies, resulting in three live births. The recurrence rate of UC was significantly higher in MBOTs than in USO (p = 0.005). The 5-year disease-free survival rate was 67.1%, and the 5-year overall survival rate was 100%. CONCLUSIONS: Fertility-sparing surgery is feasible and safe for children and adolescents with BOTs. For patients with MBOTs, USO is recommended to lower the risk of recurrence.


Asunto(s)
Preservación de la Fertilidad , Neoplasias Ováricas , Humanos , Femenino , Adolescente , Neoplasias Ováricas/cirugía , Neoplasias Ováricas/patología , Preservación de la Fertilidad/métodos , Niño , Estudios Retrospectivos , Adulto Joven , Preescolar , Resultado del Tratamiento , Tratamientos Conservadores del Órgano/métodos , Recurrencia Local de Neoplasia
20.
Chiropr Man Therap ; 32(1): 14, 2024 May 08.
Artículo en Inglés | MEDLINE | ID: mdl-38720355

RESUMEN

BACKGROUND: A significant proportion of children and adolescents experience back pain. However, a comprehensive systematic review on the effectiveness of rehabilitation interventions is lacking. OBJECTIVES: To evaluate benefits and harms of rehabilitation interventions for non-specific low back pain (LBP) or thoracic spine pain in the pediatric population. METHODS: Seven bibliographic electronic databases were searched from inception to June 16, 2023. Moreover, reference lists of relevant studies and systematic reviews, three targeted websites, and the WHO International Clinical Trials Registry Platform were searched. Paired reviewers independently conducted screening, assessed risk of bias, and extracted data related to study characteristics, methodology, subjects, and results. Certainty of evidence was evaluated based on the GRADE approach. RESULTS: We screened 8461 citations and 307 full-text articles. Ten quantitative studies (i.e., 8 RCTs, 2 non-randomized clinical trials) and one qualitative study were included. With very low to moderate certainty evidence, in adolescents with LBP, spinal manipulation (1-2 sessions/week over 12 weeks, 1 RCT) plus exercise may be associated with a greater likelihood of experiencing clinically important pain reduction versus exercise alone; and group-based exercise over 8 weeks (2 RCTs and 1 non-randomized trial) may reduce pain intensity. The qualitative study found information provided via education/advice and compliance of treatment were related to effective treatment. No economic studies or studies examining thoracic spine pain were identified. CONCLUSIONS: Spinal manipulation and group-based exercise may be beneficial in reducing LBP intensity in adolescents. Education should be provided as part of a care program. The overall evidence is sparse. Methodologically rigorous studies are needed. TRIAL REGISTRATION: CRD42019135009 (PROSPERO).


Asunto(s)
Dolor de la Región Lumbar , Humanos , Niño , Adolescente , Dolor de la Región Lumbar/terapia , Dolor de la Región Lumbar/rehabilitación , Terapia por Ejercicio/métodos , Manipulación Espinal/métodos , Dolor de Espalda/rehabilitación , Dolor de Espalda/terapia
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