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Food Chem ; 302: 125350, 2020 Jan 01.
Artigo em Inglês | MEDLINE | ID: mdl-31415999


The aim of the study was to investigate the use of serine protease from Yarrowia lipolytica yeast for reduction of milk proteins allergenicity. Whey protein concentrate (WPC-80), αs-casein and their hydrolysates were analyzed for the capacity to bind IgE and IgG antibodies present in sera from patients with cow milk protein allergy using a competitive ELISA. The hydrolysis of αs-casein and whey protein concentrate contributed to a significant reduction of their immunoreactive epitopes. In case of IgE antibodies, the lowest binding capacity was detected in the 24 h hydrolysates of both proteins in which the inhibition of the reaction was ≤20 and ≤68% for αs-casein and whey protein concentrate respectively. One hour hydrolysis of WPC-80 reduced the protein antigenicity, while the longer time (5 h) might lead to the exposure of new IgE - reactive epitopes.

Hipersensibilidade a Leite/imunologia , Proteínas do Leite/imunologia , Hidrolisados de Proteína/imunologia , Serina Proteases/metabolismo , Alérgenos/imunologia , Alérgenos/metabolismo , Animais , Caseínas/imunologia , Caseínas/metabolismo , Pré-Escolar , Ensaio de Imunoadsorção Enzimática , Epitopos , Feminino , Cabras/imunologia , Humanos , Imunoglobulina E/imunologia , Imunoglobulina E/metabolismo , Imunoglobulina G/imunologia , Imunoglobulina G/metabolismo , Proteínas do Leite/metabolismo , Hidrolisados de Proteína/metabolismo , Proteínas do Soro do Leite/imunologia , Proteínas do Soro do Leite/metabolismo , Yarrowia/enzimologia
Food Chem ; 302: 125348, 2020 Jan 01.
Artigo em Inglês | MEDLINE | ID: mdl-31442704


Tropomyosin (TM) is the main allergen of shrimp. Glycation reportedly reduced the allergenicity of TM, and the allergenicity reduction was heavily dependent upon the sources of saccharides. In this work we investigated, how glycation of tropomyosin by functional oligosaccharides affected the allergenicity. Compared to TM, the TM glycated by galacto-oligosaccharide (TM-GOS), mannan-oligosaccharide (TM-MOS) and maltopentaose (TM-MPS) had lower allergenicity and induced weaker mouse allergy responses. While the TM glycated by fructo-oligosaccharide (TM-FOS) had stronger allergenicity and induced severe mouse allergy symptoms, due to the generation of neoallergns that belonged to advanced glycation end products (e.g. CML). Therefore, GOS, MOS and MPS could be applied to desensitize shrimp TM-induced food allergy through glycation, while FOS was not suitable to reduce TM allergenicity. Glycation of TM by GOS, MOS and MPS, especially for MPS, significantly reduced allergenicity and alleviated allergy symptoms, which could be potentially explored for immunotherapy for shrimp-allergic patients.

Hipersensibilidade Alimentar/imunologia , Produtos Finais de Glicação Avançada/metabolismo , Palaemonidae/imunologia , Proteínas de Frutos do Mar/metabolismo , Tropomiosina/metabolismo , Adulto , Alérgenos/imunologia , Alérgenos/metabolismo , Animais , Pré-Escolar , Feminino , Hipersensibilidade Alimentar/sangue , Glicosilação , Humanos , Masculino , Camundongos Endogâmicos BALB C , Pessoa de Meia-Idade , Oligossacarídeos/imunologia , Oligossacarídeos/metabolismo , Proteínas de Frutos do Mar/química , Proteínas de Frutos do Mar/imunologia , Tropomiosina/química , Tropomiosina/imunologia
Gene ; 723: 144133, 2020 Jan 10.
Artigo em Inglês | MEDLINE | ID: mdl-31589956


BACKGROUND AND AIM: Autism spectrum disorder (ASD) is one of the neurodevelopmental and cognitive conditions that involves 1 in 160 children around the world. Several studies showed that there is a relationship between vitamin D receptor (VDR) gene polymorphisms with the neurodevelopmental behavioral disorders. In the current study, we aimed to highlight the association of VDR gene polymorphisms (FokI and TaqI) with the risk of autism in Birjand population. MATERIAL AND METHODS: In this case-control study eighty-one patients recognized with ASD and one hundred-eight healthy controls were recruited to the study from 2017 to 2018. Genotyping was carried out by polymerase chain reaction followed by restriction fragment length polymorphism (PCR-RFLP) technique for all subjects. RESULTS: Calculated odds ratio and P-value for the alleles of VDR gene FokI and TaqI variants between autistic patients and controls did not show a significant difference (P > 0.05). However, calculated homozygous recessive (tt) for TaqI polymorphism was statistically significant (P = 0.015) in control group and there was also statistically meaningful difference in both case and control groups in ft haplotype (P = 0.04). CONCLUSION: These results provide preliminary evidence that genetic variants of the VDR gene (FokI and TaqI) might have a possible reduced risk of ASD occurrence in children. The additional examination is needed to acquire more decisive and precise results in this area.

Transtorno do Espectro Autista/genética , Polimorfismo de Fragmento de Restrição , Receptores de Calcitriol/genética , Adolescente , Transtorno do Espectro Autista/sangue , Estudos de Casos e Controles , Criança , Pré-Escolar , Colecalciferol/sangue , Feminino , Estudos de Associação Genética , Testes Genéticos , Humanos , Irã (Geográfico) , Masculino
Autops. Case Rep ; 9(4): e2019091, Oct.-Dec. 2019. ilus, tab
Artigo em Inglês | LILACS | ID: biblio-1024295


Desmoplastic fibroma (DF) is a rare bone tumor, which is known to involve mostly the gnathic bones. In this setting, the clinical presentation is usually represented by a bulging tumor of the face. Radiologically, the tumor is usually characterized by an expansile lytic bone lesion. The histopathology of the tumor shows a poorly circumscribed hypocellular lesion rich in collagen fibers with interspersed spindle cells having bland nuclear chromatin. Despite the lack of mitoses and nuclear pleomorphism, DF has an aggressive nature, presenting as a destructive growth causing entrapment of neuro-vascular bundles, sinusitis, or trismus. Some cases of DF show mutations in the adenomatous polyposis coli pathway shown by nuclear localization of the ß-catenin protein. Few reports showed an association with tuberous sclerosis, though most of these cases were sporadic. We discuss a rare case of desmoplastic fibroma involving the mandible, and a review of the literature of the DF cases involving the gnathic bones.

Humanos , Feminino , Pré-Escolar , Neoplasias Ósseas/patologia , Fibroma Desmoplásico/patologia , Mandíbula
Rev. méd. Urug ; 35(4): 281-288, dic. 2019. tab, fig
Artigo em Espanhol | LILACS | ID: biblio-1026148


Introducción: la luxación de cadera es una complicación severa en pacientes con parálisis cerebral (PC), sobre todo en pacientes incluidos en el sistema de clasificación de la función motora gruesa (GMFCS, por su sigla en inglés) III-V. Para su identificación son necesarias radiografías de pelvis. Objetivos: evaluar el seguimiento radiográfico en estos pacientes y la detección precoz de esta complicación en nuestro hospital. Material y método: se revisaron historias clínicas y radiografías de 17 pacientes GMFCS III-V, entre 2 y 8 años de edad al momento de la radiografía de pelvis índice, midiendo el porcentaje de migración (PM) de cadera de acuerdo al índice de Reimer, el ángulo cérvico-diafisiario y calculando el CPUP Score de cada cadera. Evaluamos el control radiográfico al año o posteriormente a esa fecha, y de no haber sido así, se citaría a los pacientes a control radiológico para detectar las caderas con riesgo migratorio elevado. Resultados: de los 17 pacientes evaluados, 3 (18%) tuvieron una nueva radiografía de pelvis al año; 6 (35%) pacientes la tuvieron posteriormente al año, y antes de la fecha de control designada, 7 (41%) pacientes nunca fueron controlados, citándose para nueva radiografía en 2018. Un paciente (6%) se perdió en el seguimiento. Un paciente presentó una cadera con riesgo alto (CPUP Score 50%-60%), el resto tuvo PM dentro de rangos normales. Conclusiones: pocos pacientes con PC GMFCS III-V tuvieron un seguimiento radiográfico anual. Los monitoreados posteriormente no mostraron progresión de esta condición. El resultado de este estudio y la literatura respaldan la introducción de un programa de vigilancia en nuestro hospital.

Introduction: hip luxation is a severe complication in patients with cerebral palsy (CP), especially in gross motor functional classification system (GMFCS) III-V patients. Pelvic x-rays are necessary to identify this condition. Objectives: to assess the x-ray follow-up in these patients and the early detection of this complication in our hospital. Method: the medical records and x-rays of 17 GMFCS III-V patients who were between 2 and 8 years old at the time of index pelvic x-ray were reviewed, measurement of the hip migration percentage according to Reimer´s index, the cervical-diaphyseal angle and calculation of the CPUP hip score for each hip. We assessed the follow-up x-ray a year later or later than that date, and in the even this had not happened, we would call the patients in for a control x-ray to identify the hips with an increase migration risk. Results: 3 (18%) out of 17 patients assessed underwent a new pelvic x-ray a year later. 6 patients (35%) underwent one later than one year after and prior to the control visit planned, 7 (41%) patients were never controlled and they were called for a new x-ray in 2018. One patient (6%) was lost during follow-up. One patient had an increased risk hip (CPUP Score 50-60%), the rest had normal migration percentages. Conclusions: few patients with PC GMFCS III-V underwent annual follow-up. Those monitored did not evidence progression of this condition. This study and the relevant literature back up the introduction of a surveillance program in our hospital.

Introdução: a luxação de quadril é uma complicação grave nos pacientes com paralisia cerebral (PC), principalmente nos pacientes "Gross motor funcional classificativo system (GMFCS) III-V". Para sua identificação é necessário realizar radiografias de pélvis. Objetivos: avaliar o seguimento radiográfico nesses pacientes e realizar a detecção precoce desta complicação no hospital. Material e método: foram estudados os prontuários e radiografias de 17 pacientes GMFCS III-V, com idades entre 2 e 8 anos no momento da radiografia de pélvis índice, medindo a porcentagem de migração (PM) de quadril de acordo com o índice de Reimer, o ângulo cervico-diafisiario e calculando o CPUP Score de cada quadril. Foi feito o controle radiográfico um ano ou mais depois da data da realização da radiografia; quando não foi possível os pacientes foram convocados para a realização de controle radiológico para detectar os quadris com risco migratório elevado. Resultados: dos 17 pacientes avaliados, 3 (18%) realizaram uma nova radiografia de pélvis um ano depois da primeira, 6 (35%) pacientes depois de um ano mas antes de ser convocados para controle, 7 (41%) pacientes nunca foram controlados, sendo convocados para uma nova radiografia em 2018. Um paciente (6%) foi perdido. Um paciente apresentou um quadril com risco alto (CPUP Score 50-60%), os demais tinham PM dentro de intervalos normais. Conclusões: poucos pacientes com PC GMFCS III-V tiveram um seguimento radiográfico anual. Os que foram monitorados posteriormente não mostraram progressão desta condição. O resultado deste estudo e a literatura respaldam a introdução de um programa de vigilância no nosso hospital.

Humanos , Pré-Escolar , Criança , Paralisia Cerebral/complicações , Seguimentos , Luxação do Quadril/diagnóstico por imagem , Radiografia/instrumentação
Rev. cuba. angiol. cir. vasc ; 20(2): e391, jul.-dic. 2019. graf
Artigo em Espanhol | LILACS | ID: biblio-1003861


Introducción: Los aneurismas arteriales son poco frecuentes en edad pediátrica, sin embargo; se observa un incremento en la incidencia de pseudoaneurismas a partir de traumatismos vasculares, sobre todo, por la aplicación de procederes invasivos. También se observan en procesos infecciosos y tumorales adyacentes, que acaban por lesionar la pared arterial. La mayoría suelen ser asintomáticos, o se presentan como una masa pulsátil que se asientan sobre la zona de la arteria afectada. Objetivo: Demostrar la importancia del diagnóstico temprano de los pseudoaneurismas para el tratamiento quirúrgico oportuno y evitar complicaciones posteriores. Presentación del caso: se discute un caso de una paciente de dos años de edad con un trauma vascular iatrogénico en la extremidad inferior derecha, que se manifestó como una tumoración pulsátil. Se realizó eco-doppler y angiografía, con lo que se diagnosticó un aneurisma de la arteria femoral derecha. Se realizó una exéresis y reconstrucción vascular con buena evolución. Conclusiones: El diagnóstico rápido de estas entidades vasculares evita que se presenten complicaciones posteriores y aseguran una evolución rápida y satisfactoria de los pacientes que las padecen(AU)

Introduction: Arterial aneurysms are rare in the pediatric ages. However, it is observed an increasement of the incidence of pseudoaneurysms caused by vascular traumas, mainly due to the use of invasive procedures. It is also present in infectious and tumour processes that end up injuring the arterial wall. Most of them are asymptomatic or are presented as a pulsatile mass that sets up over the affected artery's zone. Objective: To show the importance of early diagnosis of pseudo-aneurysms. Case presentation: It is presented the case of a two years old patient with a iatrogenic vascular trauma in the right lower limb that manifested in the way of a pulsatile tumor. Through an eco-Doppler and an angiography, an aneurysm of the right femoral artery was diagnosed, which led to an excision and a vascular reconstruction with good evolution. Conclusions: Early diagnosis of these vascular entities allows its timely surgical treatment, avoids the appearance of further complications and assures a prompt and satisfactorily evolution of the patients(AU)

Humanos , Feminino , Pré-Escolar , Falso Aneurisma/cirurgia , Falso Aneurisma/diagnóstico , Artéria Femoral , Angiografia por Tomografia Computadorizada/métodos
Rev. Esc. Enferm. USP ; 53: e03486, Jan.-Dez. 2019. tab
Artigo em Inglês, Português | LILACS, BDENF - Enfermagem | ID: biblio-1020393


RESUMO Objetivo Avaliar o impacto das Infecções Relacionadas à Assistência à Saúde no custo da hospitalização de crianças. Método Estudo de coorte, prospectivo, quantitativo, envolvendo crianças admitidas nas Unidades de Internação e de Terapia Intensiva Pediátrica de um hospital universitário público. Os dados foram analisados por meio do software SPSS por distribuição de frequências, medidas de tendência central e dispersão. Para todas as análises foi considerado o nível de significância estatística de p<0,05. Resultados A amostra foi composta de 173 crianças, destas, 18,5% desenvolveram infecção relacionada à assistência à saúde, que aumentou em 4,2 vezes (p<0,001) o custo da hospitalização. Maior impacto de custo foi observado entre pacientes com dois ou mais sítios infecciosos (R$ 81.037,57, p=0,010) e sepse (R$ 46.315,63 p<0,001). Crianças colonizadas por microrganismos multirresistentes, com prevalência de E. coli e A. baumannii ESBL, geraram custos maiores, R$ 35.206,15 e R$ 30.692,52, respectivamente. Conclusão As infecções relacionadas à assistência à saúde aumentaram significativamente os custos da hospitalização de crianças, em especial entre aquelas com mais de dois sítios infecciosos, que desenvolveram sepse e colonizadas por microrganismos multirresistentes.

RESUMEN Objetivo Evaluar el impacto de las Infecciones Relacionadas con la Asistencia Sanitaria en el costo de la hospitalización de niños. Método Estudio de cohorte, prospectivo, cuantitativo, involucrando a niños ingresados en las Unidades de Hospitalización y de Cuidados Intensivos Pediátricos de un hospital universitario público. Los datos fueron analizados mediante el software SPSS por distribución de frecuencias, medidas de tendencia central y dispersión. Para todos los análisis, se consideró el nivel de significación estadística de p<0,05. Resultado La muestra estuvo compuesta de 173 niños, de estos el 18,5% desarrollaron infección relacionada con la asistencia sanitaria, que aumentó 4,2 veces (p<0,001) el costo de la estancia hospitalaria. Mayor impacto de costo fue observado entre pacientes con dos o más sitios infecciosos (R$ 81.037,57, p=0,010) y sepsis (R$ 46.315,63 p<0,001). Niños colonizados por microorganismos multirresistentes, con prevalencia de E. coli y A. baumannii ESBL, generaron costos mayores, R$ 35.206,15 y R$ 30.692,52, respectivamente. Conclusión Las infecciones relacionadas con la asistencia sanitaria aumentaron significativamente los costos de la hospitalización de niños, en especial entre los con más de dos sitios infecciosos, que desarrollaron sepsis y colonizados por microorganismos multirresistentes.

ABSTRACT Objective To evaluate the impact of Healthcare-Associated Infections on the hospitalization cost of children. Method A prospective, quantitative cohort study involving children admitted to the Inpatient and Pediatric Intensive Care Units of a public university hospital. The data were analyzed through SPSS software by frequency distribution, central tendency measures and dispersion. The level of statistical significance was set at p<0.05 for all analyzes. Results The sample consisted of 173 children, of whom 18.5% developed Healthcare-Associated Infections, which increased the hospitalization costs 4.2 times (p<0.001). A greater cost impact was observed among patients with two or more infectious sites (R$81,037.57; p=0.010) and sepsis (R$46,315.63; p<0.001). Children colonized by multiresistant microorganisms with a prevalence of E. coli and A. baumannii ESBL also generated higher costs of R$35,206.15 and R$30,692.52, respectively. Conclusion Healthcare-Associated Infections significantly increased the hospitalization costs for children, especially among those with more than two infectious sites, who developed sepsis or were colonized by multiresistant microorganisms.

Humanos , Masculino , Feminino , Recém-Nascido , Lactente , Pré-Escolar , Criança , Criança Hospitalizada , Infecção Hospitalar , Custos de Cuidados de Saúde , Resistência Microbiana a Medicamentos , Unidades de Terapia Intensiva Pediátrica , Estudos de Coortes , Hospitais Universitários
Asunción; s.n; Nov 2019. (1-67) p.
Tese em Espanhol | LILACS, BDNPAR | ID: biblio-1021733


La infancia es considerada como una etapa trascendental en el proceso evolutivo del hombre, caracterizada por dos fenómenos: crecimiento y desarrollo, por tanto es fundamental una adecuada nutrición. Con relación a este aspecto, el programa de complementación nutricional denominado PANI (Programa Ampliado Nutricional Integral), se implementa, para garantizar la atención oportuna de niños desnutridos y en riesgo de desnutrición y evitar otros factores de riesgo que puedan poner en peligro a esta población vulnerable. Objetivo: Analizar el impacto de la implementación del programa PANI en niños menores de 5 años desnutridos y con riesgo de desnutrición en la Unidad de Salud Familiar ItáKa´aguy, durante el periodo 2015 a 2017. Metodología: Se realizó un estudio descriptivo, retrospectivo, transversal, en donde se evaluó a 74 niños menores de 5 años desnutridos y con riesgos de desnutrición, que fueron atendidos en la Unidad de Salud Familiar ItáKa´aguy, (Fernando de la Mora, XIa Región Sanitaria - Central). Se implementó con ellos el Programa de Asistencia Nutricional y luego de 2 años se compararon los resultados de la evaluación inicial, con las actuales. Resultados: Se resalta que, previo a la intervención sólo 4 niños tuvieron un peso adecuado; 19 niños se encontraban en estado de desnutrición; 6 niños se encontraban en el nivel de peso no adecuado y 40 niños se encontraban en "Riesgo de desnutrición". Mientras que posterior a la implementación del programa, 62 niños obtuvieron el peso adecuado a su edad; 3 niños se mantuvieron con signos clínicos de desnutrición y 4 niños manifestaron riesgo de desnutrición. Conclusión: se encontró que el PANI ha contribuido a mejorar de la desnutrición en los niños y niñas, como en el peso acorde con la edad, pero no así en aspectos como talla y el edema, por lo que se concluye que el impacto ha sido medio. Palabras Clave: Nutrición de los Grupos de Riesgo, Programas y Políticas de Nutrición y Alimentación,

The childhood is considered as a transcendental stage in the evolutionary process of man, characterized by two phenomena: growth and development, therefore proper nutrition is essential. In relation to this aspect, the nutritional complementation program called PANI (Comprehensive Nutritional Extended Program), is implemented to ensure timely care of malnourished children at risk of malnutrition and avoid other risk factors that may endanger this population vulnerable. Objective: To analyze the impact of the implementation of the PANI program in children under 5 years of age undernourished and at risk of malnutrition in the ItáKa'aguy Family Health Unit, during the period 2015 to 2017. Methodology: A descriptive, retrospective study was conducted, cross-sectional, in which 74 under-5 undernourished children with risk of malnutrition were evaluated, who were attended in the ItáKa'aguy Family Health Unit (Fernando de la Mora, XIa Sanitary - Central Region). The Nutritional Assistance Program was implemented with them and after 2 years the results of the initial evaluation were compared with the current ones. Results: It is highlighted that, prior to the intervention, only 4 children had an adequate weight, 19 children were in malnutrition, 6 children were at the unsuitable weight level and 40 children were at risk of malnutrition; while after the implementation of the program, 62 children obtained the appropriate weight at their age, 3 children remained with clinical signs of malnutrition and 4 children showed risk of malnutrition. Conclusion: it was found that PANI has contributed to improve malnutrition in boys and girls, as in weight according to age, but not in aspects such as height and edema, so it is concluded that the impact has been medium.

Humanos , Masculino , Feminino , Recém-Nascido , Lactente , Pré-Escolar , Programas de Nutrição , Transtornos da Nutrição Infantil/epidemiologia , Transtornos da Nutrição do Lactente/epidemiologia , Políticas Públicas de Saúde , Paraguai/epidemiologia , Transtornos da Alimentação e da Ingestão de Alimentos , Estudos Transversais , Estudos Retrospectivos , Fatores de Risco , Nutrição da Criança , Nutrição do Lactente , Classificação Internacional de Atenção Primária
Orv Hetil ; 160(45): 1784-1790, 2019 Nov.
Artigo em Húngaro | MEDLINE | ID: mdl-31680540


Introduction: It is known that lactate concentration is increased in diabetic ketoacidosis (DKA), however, the pathophysiology and kinetics of lactate changes are still unclear. Normally, L-lactate is the major form in the human body. According to previous data, also D- and L-lactate might be increased in hyperglycaemic disorders. Aim: We aimed to describe the kinetics and mechanisms of lactate concentration changes in ketoacidosis and newly diagnosed diabetes. Method: We performed a prospective study, including 5-18-year-old children with ketoacidosis (DKA, n = 13) and with newly diagnosed type 1 diabetes without ketoacidosis (T1DM, n = 6). We performed routine blood gas analysis 0-12-24-48 hours after admission, which also measured L-lactate levels. We also determined total venous serum lactate level by gas chromatography-mass spectrometry. Results: Initial plasma lactate concentration was increased in ketoacidosis as compared to the newly diagnosed diabetes group (p<0.05). After 12 h of rehydration, lactate levels were greatly reduced in ketoacidotic patients but after 24-48 h it was repeatedly increased (all p<0.01). In the 0-12 h phase, total serum lactate level was higher than L-lactate level, referring to D-lactate production. Conclusion: We described two L-lactate peaks in ketoacidosis. In the first 12 hours anaerobic glycolysis seems to have major role in hyperlactataemia. We assume that stimulated aerobic glycolysis leads to the second lactate peak. However, D-lactate is not routinely measured, it may contribute to the initial hyperlactataemia in both groups and is comparable to L-lactate production in ketoacidosis. Orv Hetil. 2019; 160(45): 1784-1790.

Diabetes Mellitus Tipo 1/diagnóstico , Ácido Láctico/sangue , Gasometria , Criança , Pré-Escolar , Diabetes Mellitus Tipo 1/sangue , Cetoacidose Diabética/sangue , Cetoacidose Diabética/diagnóstico , Feminino , Cromatografia Gasosa-Espectrometria de Massas , Humanos , Hiperglicemia/sangue , Masculino , Estudos Prospectivos
Zhonghua Er Ke Za Zhi ; 57(11): 837-843, 2019 Nov 02.
Artigo em Chinês | MEDLINE | ID: mdl-31665837


Objective: To summarize the clinical features of leukoencephalopathy with vanishing white matter disease (VWM) in children. Methods: A retrospective cohort study was performed on 54 genetically diagnosed VWM patients in Peking University First Hospital from January 2007 to March 2019. Paper registration form and electronic medical record system were used to collect the data,and the children were divided into five groups according to the age of disease onset:<1 year, 1-<2 years, 2-<4 years, 4-<8 years and 8-<18 years respectively. The progression of motor function, episodic aggravation, epileptic seizures, survival time, brain magnetic resonance imaging (MRI) and genotype features were analyzed and compared. Non-parametric test, χ(2) test or Fisher's exact test were used for comparison among groups; Kaplan-Meier survival curve was adopted to delineate the survival status of the children. Results: Fifty-four VWM patients were included in the study, including 34 males and 20 females.The age of disease onset was 2 years and 8 months (ranged from 6 months to 9 years and 7 months). Onset age was less than 1 year in 5 cases; onset age was 1-<2 years in 12 cases; onset age was 2-<4 years in 25 cases; onset age was 4-<8 years, in 10 cases; onset age was 8-<18 years in 2 cases; 94% (51/54) of patients had complaint of motor regression at the first visit; 87% (47/54) of patients suffered from episodic aggravation. Episodic seizures occurred in 43% (23/54) patients. In survivors with disease durations of 1-3 years, in 38% (9/24) patients the disease was classified as grades Ⅳ-Ⅴ by gross motor function classification system (GMFCS). For the onset age 1-<2 years group, 1 patient was classified as GMFCS Ⅳ among 3 survivors with disease durations of 1-3 years. As for the 2-<4 years group, 6 patients were classified as GMFCS Ⅳ-Ⅴ among 15 patients with disease durations of 1-3 years, whereas 1 patient was classified as GMFCS Ⅳ-Ⅴ among 4 patients with disease durations of 1-3 years in the 4-<8 years group. Lesions, liquefaction and diffusion restriction in brain MRI were compared among different groups, and it was revealed that the earlier the age of disease onset was, the more likely the subcortical white matter (frontal lobe P<0.01,temporal and parieto-occipital lobe both P=0.002), internal capsule (anterior limb P<0.01, posterior limb P=0.00) and brain stem (midbrain P=0.001, pons P<0.01) were to be involved. In addition, internal capsule (anterior limb P=0.002, posterior limb P=0.005) and brain stem (midbrain P=0.001, pons P=0.003) showed more diffuse restricted diffusion. Moreover, the subcortical white matter (frontal and parieto-occipital lobe both P<0.01, temporal lobe P=0.005) showed earlier rarefaction. The 1-year and 2-year survival rates of the overall patients were 81% and 75% respectively, while the 15-year survival rate was 45%. EIF2B5 gene variation was the most common, which accounts for 43% (23/54), followed by EIF2B3 (22%, 12/54). Conclusions: The majority of VWM patients complained of motor regression at the first visit, episodic aggravation and epileptic seizures are common in the course. Earlier age at onset is associated with more rapid clinical progression, shorter survival time as well as more extensive lesions, liquefaction and diffusion restriction in brain MRI. The most common variant gene is EIF2B5, followed by EIF2B3.

Encéfalo/diagnóstico por imagem , Leucoencefalopatias/patologia , Adolescente , Tronco Encefálico , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Imagem por Ressonância Magnética , Masculino , Transtornos dos Movimentos/fisiopatologia , Estudos Retrospectivos
Zhonghua Er Ke Za Zhi ; 57(11): 857-862, 2019 Nov 02.
Artigo em Chinês | MEDLINE | ID: mdl-31665840


Objective: To analyze the clinical characteristics of patients with PCDH19-female limited epilepsy (PCDH19-FE). Methods: The clinical data of 60 female epilepsy patients with PCDH19 gene heterozygous variations at the Department of Pediatrics, Peking University First Hospital from October 2007 to December 2018 were collected and analyzed retrospectively, their clinical manifestations, accessory examination and follow-up treatment were summarized. Results: Data of a total of 60 cases of PCDH19-FE were collected. The seizure onset occurred between 4 and 42 months of age (median: 11 months of age). Focal seizures occurred in 47 patients (78%), generalized tonic-clonic seizures (GTCS) occurred in 30 patients (50%), and other rare types of seizures included atypical absence, myoclonic, clonic, tonic, and atonic seizures. Two or more seizures types existed in 24 patients (40%), and seven patients (12%) had attacks of status epilepticus. Sensitivity to fever was observed in 47 out of them (78%) and clustering of seizures as found in all patients. During the interictal phase, focal discharges were monitored in 22 cases (22/45, 49%), multifocal discharges in 12 cases (12/45, 27%), widely discharging in 2 cases (4%), and both focal and widely discharging in 9 cases (20%). Clinical seizures were detected in 30 patients during the electroencephalogram (EEG) recording, including focal seizures in 22 cases, GTCS seizures in 8 cases, tonic seizure in three cases, myoclonic seizure followed by GTCS in one case, and two types of seizures in four cases. Before seizure onset, 57 patients had normal development and three patients had delayed language development. After seizure onset, varied degrees of intelligence disability were present in 38 cases (63%), language delay in 36 cases (60%), and gait instability in 10 cases (17%). Autistic features occurred in 17 cases (28%); and other behavioral problems like learning difficulties, personality, or emotional disorders existed in 33 cases (55%). Age at last follow-up ranged from one year and 3 months to 22 years and 3 months of age, 17 patients (28%) were seizure-free for more than 2 years (5 to 22 years at the last follow-up). The efficiency of antiepileptic drugs were 65% (33/51) in sodium valproate, 63% (27/43) in levetiracetam and 59% (20/34) in topiramate. Conclusions: The clinical features of PCDH19-FE are characterized by clustering of seizures, focal seizures in most cases, sensitivity to fever mostly, focal discharges principally in EEG, varied degrees of intellectual disability or movement disorder, combined with autism spectrum disorders in partial and high efficiency in sodium valproate or levetiracetam treatment.

Caderinas/genética , Epilepsias Mioclônicas/genética , Epilepsia/genética , Convulsões/genética , Adolescente , Transtorno do Espectro Autista , Criança , Pré-Escolar , Eletroencefalografia , Epilepsia/fisiopatologia , Feminino , Humanos , Lactente , Mutação , Estudos Retrospectivos , Convulsões/fisiopatologia , Adulto Jovem
Zhonghua Er Ke Za Zhi ; 57(11): 863-869, 2019 Nov 02.
Artigo em Chinês | MEDLINE | ID: mdl-31665841


Objective: To analyze the clinical characteristics of newly treated high-risk group neuroblastoma (NB) patients with bone marrow metastasis and to explore the prognostic factors. Methods: The clinical features (sex, age, stage, risk group, pathological type, metastatic site, etc.) of 203 newly treated high-risk NB patients with bone marrow metastasis admitted to Hematology Oncology Center, Beijing Children's Hospital from January 2007 to December 2016 were analyzed retrospectively. There were 118 males (58.1%) and 85 females (41.9%). Kaplan-Meier method was used for survival analysis and Cox regression was used to analyze the prognostic factors. Results: The age at onset of the 203 patients was 41 months (9-147 months). The metastatic sites at diagnosis were as follows: bone in 195 cases (96.1%), distant lymph nodes in 104 cases (51.2%), skull and endomeninx in 61 cases (30.0%), orbit in 30 cases (14.8%), pleura in 16 cases (7.9%), liver in 13 cases(6.4%), canalis spinalis in 13 cases (6.4%), other sites in 11 cases (5.4%) and skin and soft tissue in 10 cases (4.9%). In all, 194 cases were enrolled for prognostic analysis. The follow-up time was 36 months (1 day-138 months) , and the 5-years event free survival (EFS) and overall survival (OS) were 36.1% and 39.7%, respectively. A total of 118 patients (60.8%) had events (first relapse or death) with the time to event occurrence was 15 months (1 day-72 months), whereas 112 patients (57.7%) died with the event occurrence to death time was 3 months (1 day-21 months). There was no significant difference in 5-years OS between radiotherapy group and non-radiotherapy group (42.3% vs. 38.3%, χ(2)=3.671, P=0.055). The 5-years OS in transplantation group was significantly better than the non-transplantation group (44.3% vs. 35.5%, χ(2)=8.878, P=0.003), and the radiotherapy combined transplantation group also had a better 5-years OS rate than the non-radiotherapy combined transplantation group (45.8% vs. 37.3%, χ(2)=5.945, P=0.015). Univariate survival analysis showed lactate dehydrogenase ≥ 1 500 U/L, the amplification of MYCN, the metastatic sites of orbit, canalis spinalis and pleura were associated with poor prognosis of newly diagnosed high-risk NB patients (χ(2)=21.064, 13.601, 3.998, 6.183, 15.307, all P<0.05). The amplification of MYCN and the metastatic sites of pleura were risk factors for prognosis of newly diagnosed high-risk NB patients by Cox regression models (HR=1.896,1.100, 95%CI: 1.113-3.231, 1.020-1.187, both P<0.05). Conclusions: The prognosis is unfavorable in high-risk group NB patients with BM metastasis. Radiotherapy combined with transplantation can further improve the prognosis of these patients. The amplification of MYCN and the metastatic sites of pleura were the poor prognostic factors for high-risk NB patients with bone marrow metastasis.

Neoplasias da Medula Óssea/patologia , Neuroblastoma/patologia , Neoplasias da Medula Óssea/mortalidade , Neoplasias da Medula Óssea/radioterapia , Criança , Pré-Escolar , Intervalo Livre de Doença , Feminino , Humanos , Lactente , Masculino , Metástase Neoplásica , Neuroblastoma/mortalidade , Neuroblastoma/radioterapia , Prognóstico , Estudos Retrospectivos , Taxa de Sobrevida , Resultado do Tratamento
J Law Med ; 27(1): 192-210, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31682350


Courts in England and Wales, Australia, and New Zealand have insisted the question of when it is acceptable to withdraw or withhold life-sustaining medical treatment from a child must be considered on a case-by-case basis. Over the last 40 years a number of cases have considered whether treatment is objectively in the child's best interests. This article seeks to identify whether there are factors identified and weighed in a consistent manner across cases. Thirty cases involving decisions about the provision of life-sustaining medical treatment to children three years old or younger were identified. Judges regularly refer to the need to weigh benefits and burdens and these factors were identified and assigned scores. Eight key factors were identified, and a scoring range was assigned to each. The factors focus on the condition and position of the child and the burdens of invasive medical treatment. The review demonstrates there are factors consistently identified and despite criticisms of the indeterminacy of the best interests test, there may be a broadly consistent approach to decision-making. Cognitive capacity and unavoidably imminent death appear to be the two most influential factors in determining whether life-sustaining treatment should be provided.

Tomada de Decisões , Suspensão de Tratamento , Austrália , Criança , Pré-Escolar , Inglaterra , Humanos , Nova Zelândia , País de Gales
Medicine (Baltimore) ; 98(44): e17806, 2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-31689863


Hypoalbuminemia and anemia are frequent among in patients with traumatic brain injury (TBI). We assess whether serum albumin and hemoglobin at admission can predict outcome in children with moderate to severe TBI.This retrospective study was conducted in a tertiary pediatric hospital between May 2012 and Jun 2018 included children with an admission Glasgow Coma Scale of ≤13.A total of 213 patients were included of whom 45 died in hospital. Multivariate logistic regression showed that hypoalbuminemia (serum albumin <30 g/L) was independently associated with mortality (adjusted odds ratio [OR] = 3.059; 95% confidence interval [CI]: 1.118-8.371; P = .030) in children with moderate to severe TBI, while anemia (hemoglobin <90 g/L) was not independently associated with mortality (adjusted OR = 1.742; 95% CI: 0.617-4.916; P = .295). Serum albumin was significantly superior to hemoglobin (area under the curve [AUC] 0.738 vs AUC 0.689, P < .05) under receiver operating characteristic curve analysis. Hypoalbuminemia was also associated with reduced 14-day ventilation-free days, 14-day intensive care unit (ICU)-free days, and 28-day hospital-free days.Serum albumin at admission was superior to hemoglobin in predicting the mortality in children with moderate to severe TBI and also associated with reduced ventilator-free, ICU-free, and hospital-free days.

Lesões Encefálicas Traumáticas/sangue , Lesões Encefálicas Traumáticas/mortalidade , Hemoglobina A Glicada/metabolismo , Mortalidade Hospitalar , Albumina Sérica/metabolismo , Anemia/complicações , Anemia/diagnóstico , Biomarcadores/sangue , Lesões Encefálicas Traumáticas/complicações , Lesões Encefálicas Traumáticas/terapia , Estudos de Casos e Controles , Criança , Pré-Escolar , Cuidados Críticos , Feminino , Escala de Coma de Glasgow , Humanos , Hipoalbuminemia/complicações , Hipoalbuminemia/diagnóstico , Masculino , Valor Preditivo dos Testes , Respiração Artificial , Estudos Retrospectivos
Medicine (Baltimore) ; 98(44): e17812, 2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-31689866


The aim of this study was to analyze the risk factors, clinical features, and antimicrobial resistance of Pseudomonas putida (P putida) isolated from Tongji Hospital in Wuhan, China.The data of 44 patients with P putida infections were retrospectively reviewed in this study. All cases of P putida strains were detected by the clinical laboratory of Tongji Hospital in the period of January 2010 to December 2017. Antimicrobial susceptibility testing was conducted using Kirby-Bauer method.Forty-four effective strains of P putida were isolated, including 32 inpatients and 12 outpatients. The 32 inpatients cases were obtained from various departments, which were urosurgery wards (n = 5, 15.6%), pediatrics wards (n = 4, 12.5%), hepatic surgery wards (n = 4, 12.5%), among others. The isolates had been discovered from urine specimens (28.2%), blood specimens (21.9%), sputum specimens (12.5%), and so on. Twenty-five patients had histories of catheterization before the isolation of P putida. Twenty-four patients were in immunocompromised states, 5 patients had undergone surgery, catheterization and were taking immunosuppressive therapy simultaneously. Polymicrobial infections were found in some P putida cases, especially Stenotrophomonas maltophilia, Pseudomonas aeruginosa, and Escherichia coli. All the patients had treated by antimicrobial before culture. Multi-drug-resistant strains were detected in 75% of P putida isolates. The P putida strains were resistant to trimethoprim/sulfamethoxazole (97.7%), aztreonam (88.6%), minocyline (74.3%), ticarcillin/clavulanic acid (72.7%), and sensitive to amikacin (86.4%), imipenem (62.8%), gentamicin (56.8%).Catheterization or other invasive procedures, immunocompromised states, and underlying diseases increased the risks of P putida infections. Moreover, the P putida strains were highly resistant to trimethoprim/sulfamethoxazole, aztreonam, minocyline, ticarcillin/clavulanic acid.

Antibacterianos/uso terapêutico , Farmacorresistência Bacteriana , Infecções por Pseudomonas/microbiologia , Pseudomonas putida/efeitos dos fármacos , Adulto , Idoso , Idoso de 80 Anos ou mais , Criança , Pré-Escolar , China , Feminino , Humanos , Masculino , Testes de Sensibilidade Microbiana , Pessoa de Meia-Idade , Infecções por Pseudomonas/tratamento farmacológico , Estudos Retrospectivos , Fatores de Risco , Adulto Jovem
Anticancer Res ; 39(11): 6389-6392, 2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-31704872


BACKGROUND/AIM: Neurofibromatosis type 1 (NF1) is characterized by the occurrence of multisystem tumors, among which the most characteristic are optic pathway gliomas (OPGs) and plexiform neurofibromas (PNFs). With the development of new anticancer drugs targeting the immune system, it is important to examine the immunological status of patients with NF1. Furthermore, the immune system has been suggested as a probable modulator of NF1-associated phenotypes. The objective of this study was the analysis of lymphocyte subset populations with respect to the presence of PNFs and OPGs. PATIENTS AND METHODS: Fifty-three patients with NF1 diagnosed with OPG/PNF were analyzed for lymphocyte subpopulations. RESULTS: Significantly lower levels of B-cells, T-cells and natural killer (NK) cells were observed in the group of patients with PNFs compared to those with OPG. CONCLUSION: Our observation may indicate a correlation between weakened functioning of the immune system and the formation of PNFs.

Subpopulações de Linfócitos B/citologia , Células Matadoras Naturais/citologia , Neurofibroma Plexiforme/imunologia , Neurofibromatose 1/imunologia , Glioma do Nervo Óptico/imunologia , Subpopulações de Linfócitos T/citologia , Adolescente , Adulto , Idoso , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Contagem de Linfócitos , Masculino , Pessoa de Meia-Idade , Neurofibroma Plexiforme/etiologia , Neurofibromatose 1/complicações , Glioma do Nervo Óptico/etiologia
Anticancer Res ; 39(11): 6413-6416, 2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-31704875


BACKGROUND/AIM: The aim of this study was to present the clinical characteristics, natural history and survival outcomes of primary gastrointestinal non-Hodgkin lymphomas (PGINHL) in the pediatric population. PATIENTS AND METHODS: Surveillance, Epidemiology, and End Results (SEER) database was queried for patients aged 0 to 19 years with PGINHL between 1973 and 2014. RESULTS: A total of 452 cases were identified [mean age 11.0 (±5.1)] years, whites 84.1%, males (76.5%). The majority of tumors were noted in the small bowel (SB) (47.6%), followed by large bowel (LB) (28.5%) and the stomach (10.0%). Overall, the most common histological subtype was Burkitt lymphoma (51.8%), followed by diffuse large B-cell lymphoma (DLBCL) (26.1%). Mean overall survival (OS) of the entire cohort was 33,33 years with a 5-yr, 10-yr and 30-yr survival rate of 86%, 86% and 79%, respectively. Large bowel tumors had the best long-term survival rates whereas; gastric tumors had the worst with 30-yr survival rate 84% and 74%, respectively. Overall, 328 (72.6%) patients received surgery. No significant survival difference was noted between patients who underwent surgery and those who did not. CONCLUSION: This study presents the largest dataset of pediatric PGINHL and describes the clinical features and outcomes of these patients in addition to summarizing the literature.

Neoplasias Gastrointestinais , Linfoma não Hodgkin , Adolescente , Linfoma de Burkitt/mortalidade , Linfoma de Burkitt/patologia , Linfoma de Burkitt/cirurgia , Neoplasias do Ceco/mortalidade , Neoplasias do Ceco/patologia , Neoplasias do Ceco/cirurgia , Criança , Pré-Escolar , Feminino , Neoplasias Gastrointestinais/mortalidade , Neoplasias Gastrointestinais/patologia , Neoplasias Gastrointestinais/cirurgia , Humanos , Neoplasias do Íleo/mortalidade , Neoplasias do Íleo/patologia , Neoplasias do Íleo/cirurgia , Lactente , Recém-Nascido , Linfoma Difuso de Grandes Células B/mortalidade , Linfoma Difuso de Grandes Células B/patologia , Linfoma Difuso de Grandes Células B/cirurgia , Linfoma não Hodgkin/mortalidade , Linfoma não Hodgkin/patologia , Linfoma não Hodgkin/cirurgia , Masculino , Programa de SEER , Neoplasias Gástricas/mortalidade , Neoplasias Gástricas/patologia , Neoplasias Gástricas/cirurgia , Taxa de Sobrevida , Adulto Jovem
Prax Kinderpsychol Kinderpsychiatr ; 68(7): 592-605, 2019 Nov.
Artigo em Alemão | MEDLINE | ID: mdl-31711402


Coping with Stress During Childhood and Adolescence Humans already start to show stress responses on a physical and mental level in early childhood. Numerous studies have demonstrated age- and gender-related differences in experiencing and managing stress. During the transitional period of adolescence young people often experience higher stress-levels. This might lead to a higher vulnerability for maladaptive stress responses. In other words, adolescents who do not have adequate coping strategies to deal with the developmental challenges of puberty might be at risk for later physical and mental symptoms. On the other hand, adequate coping strategies represent a protective factor. Therefore, education and prevention in home and school settings are of particular relevance for adolescent age groups.

Adaptação Psicológica , Comportamento do Adolescente , Comportamento Infantil , Estresse Psicológico/fisiopatologia , Estresse Psicológico/psicologia , Adolescente , Criança , Pré-Escolar , Humanos , Transtornos Mentais/etiologia , Transtornos Mentais/psicologia
Surg Clin North Am ; 99(6): 1177-1183, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-31676056


Pediatric inflammatory bowel disease may present differently than adult onset disease. It is important to consider a broader differential diagnosis in very early onset disease. Diagnostic and treatment decisions must consider the long term risks and benefits over a lifetime. Surgical triggers in children may include impaired growth and inability to wean from steroids in addition to standard adult indications. Effective transition of care to adult providers is a key to prevent flares and loss of follow-up.

Tratamento Conservador/métodos , Doenças Inflamatórias Intestinais/diagnóstico , Doenças Inflamatórias Intestinais/terapia , Adolescente , Fatores Etários , Criança , Pré-Escolar , Colite Ulcerativa/diagnóstico , Colite Ulcerativa/terapia , Doença de Crohn/diagnóstico , Doença de Crohn/terapia , Feminino , Humanos , Masculino , Pediatria , Prognóstico , Recidiva , Medição de Risco , Índice de Gravidade de Doença , Resultado do Tratamento
JAMA ; 322(17): 1713-1714, 2019 11 05.
Artigo em Inglês | MEDLINE | ID: mdl-31688877