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1.
Pediatr Neurol ; 155: 8-17, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38569228

RESUMO

BACKGROUND: TRAF7-related cardiac, facial, and digital anomalies with developmental delay (CAFDADD), a multisystemic neurodevelopmental disorder caused by germline missense variants in the TRAF7 gene, exhibits heterogeneous clinical presentations. METHODS: We present a detailed description of 11 new TRAF7-related CAFDADD cases, featuring eight distinct variants, including a novel one. RESULTS: Phenotypic analysis and a comprehensive review of the 58 previously reported cases outline consistent clinical presentations, emphasizing dysmorphic features, developmental delay, endocrine manifestations, and cardiac defects. In this enlarged collection, novelties include a wider range of cognitive dysfunction, with some individuals exhibiting normal development despite early psychomotor delay. Communication challenges, particularly in expressive language, are prevalent, necessitating alternative communication methods. Autistic traits, notably rigidity, are observed in the cohort. Also, worth highlighting are hearing loss, sleep disturbances, and endocrine anomalies, including growth deficiency. Cardiac defects, frequently severe, pose early-life complications. Facial features, including arched eyebrows, contribute to the distinct gestalt. A novel missense variant, p.(Arg653Leu), further underscores the complex relationship between germline TRAF7 variants and somatic changes linked to meningiomas. CONCLUSIONS: Our comprehensive analysis expands the phenotypic spectrum, emphasizing the need for oncological evaluations and proposing an evidence-based schedule for clinical management. This study contributes to a better understanding of TRAF7-related CAFDADD, offering insights for improved diagnosis, intervention, and patient care.


Assuntos
Deficiências do Desenvolvimento , Cardiopatias Congênitas , Fenótipo , Humanos , Deficiências do Desenvolvimento/genética , Masculino , Feminino , Criança , Pré-Escolar , Cardiopatias Congênitas/genética , Cardiopatias Congênitas/fisiopatologia , Lactente , Peptídeos e Proteínas Associados a Receptores de Fatores de Necrose Tumoral/genética , Mutação de Sentido Incorreto , Adolescente
2.
Children (Basel) ; 9(12)2022 Dec 13.
Artigo em Inglês | MEDLINE | ID: mdl-36553400

RESUMO

BACKGROUND: Childhood cancer is a "stressful experience" for parents in their role as caregivers. The aim of this study is to analyze the needs of a group of parents who have children diagnosed with cancer. The assessment looks at all areas of their daily life using a qualitative content analysis approach. METHODS: This study uses open questions designed to investigate the main problems faced by the parents of children with cancer. All the answers were analyzed using MAXQDA 20 software. The study was conducted according to the Consolidated Criteria for Reporting Qualitative Research (COREQ). RESULTS: The content analysis of the answers from 13 mothers and 7 fathers is presented. The main themes as priority areas of need were: "informal social support", "coping", "stressors/imbalances" and "health problems". Dissatisfaction with the support provided from the informal network was detected. Although the participants expressed active coping, they also exhibited helplessness, as well as concerns regarding possible sequelae and the impact of this situation on the family's economic/work context. Conciliation problems were a source of stress. All this is consistent with the participants suffering from a variety of health issues. CONCLUSIONS: the results show the effect of childhood cancer on different aspects of family life. They provide essential information for designing psychosocial interventions.

3.
Artigo em Inglês | MEDLINE | ID: mdl-34886313

RESUMO

BACKGROUND: Childhood cancer is a disease with a psychosocial impact on parents who experience health problems and distress. Their reactions depend on the relationship of multiple factors. The objective of this paper is to evaluate the interrelationships between flourishing and the variables linked to the health and wellbeing of parents of children with cancer. METHODS: Mothers/fathers of children with cancer participated in an exploratory study in response to a series of questionnaires. Likert-type scales were used to measure perceived health, wellbeing, flourishing, stress, coping, and social support. RESULTS: Out of a total of 94 children, 138 parents (60 men/78 women) are represented. Participants show physical symptoms and an unstable coping pattern. A path analysis model is presented. As to the goodness of adjustment of the statistics used, good results were obtained. Flourishing tends to coexist with wellbeing, while flourishing coexists negatively with symptoms. There is an indirect relationship between flourishing and poor health. There is a positive relationship between flourishing and coping, as well as between flourishing and satisfaction with the support received (especially from sons/daughters). This support was negatively related to the subjective health report. CONCLUSIONS: Flourishing is shown as a healthy coping strategy. The results can enrich the development of psychosocial interventions aimed at promoting adequate adaptation.


Assuntos
Adaptação Psicológica , Neoplasias , Criança , Feminino , Humanos , Masculino , Mães , Apoio Social , Estresse Psicológico/epidemiologia , Inquéritos e Questionários
4.
Eur J Pediatr ; 180(9): 2773-2780, 2021 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-33759019

RESUMO

Iron deficiency (ID) is the most common nutritional deficiency affecting children worldwide. Most traditional laboratory parameters to assess ID can be altered by infections or other inflammatory states, including obesity. The aims of this study were to determine the prevalence of ID in healthy children and to analyse associated factors, avoiding potential confounding factors through the use of serum transferrin receptor (sTfR), reticulocyte haemoglobin content and sTfR/log ferritin index. A cross-sectional population-based study was conducted on 951 children aged 1 to 11 years in Almería (Spain). ID was detected in 7.7% of children and iron deficiency anaemia in 0.9%. Multivariate analysis identified the following as independent risk factors: age under 5 years (OR: 2.2, 95% CI: 1.35-3.6); excessive consumption of cow's milk and dairy products (OR: 1.87, 95% CI: 1.13-3.1); and insufficient consumption of vegetables (OR: 2.7, 95% CI: 1.2-6.1).Conclusions: Using a combination of iron status parameters with greater discriminatory power than classical measures, this study detected a considerable iron deficiency prevalence in Spanish children. Younger children and specific dietary habits exhibit a particular risk for ID, so special attention should be paid to this population. What is Known: • Iron deficiency remains the most prevalent nutritional deficit worldwide, and children aged under 3 years are the most vulnerable to this condition. • Accurate assessment of iron status, based on a combination of biochemical indicators, can often be complicated. What is New: • Iron deficiency continues to present a health problem in Spanish children aged 1 to 11 years, considering the serum transferrin receptor and reticulocyte haemoglobin content for diagnosis. • Excessive consumption of dairy products and low consumption of vegetables are independent risk factors for iron deficiency.


Assuntos
Anemia Ferropriva , Anemia Ferropriva/epidemiologia , Anemia Ferropriva/etiologia , Animais , Bovinos , Criança , Pré-Escolar , Estudos Transversais , Feminino , Ferritinas , Humanos , Prevalência , Reticulócitos
5.
Front Oncol ; 11: 606907, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-33680961

RESUMO

Glioma is the most common and aggressive primary tumor of the central nervous system. The standard treatment for malignant gliomas is surgery followed by chemoradiotherapy. Unfortunately, this treatment has not produced an adequate patient response, resulting in a median survival time of 12-15 months and a 5-year overall survival of <5%. Although new strategies have been sought to enhance patient response, no significant increase in the global survival of glioma patients has been achieved. The option of developing new drugs implies a long and costly process, making drug repurposing a more practical alternative for improving glioma treatment. In the last few years, researchers seeking more effective cancer therapy have pursued the possibility of using anti-hormonal agents, such as mifepristone. The latter drug, an antagonist for progesterone and glucocorticoid receptors, has several attractive features: anti-tumor activity, low cytotoxicity to healthy cells, and modulation of the chemosensitivity of several cancer cell lines in vitro. Hence, the addition of mifepristone to temozolomide-based glioblastoma chemotherapy may lead to a better patient response. The mechanisms by which mifepristone enhances glioma treatment are not yet known. The current review aims to discuss the potential role of mifepristone as an adjuvant drug for the treatment of high-grade gliomas.

6.
Child Obes ; 16(6): 440-447, 2020 09.
Artigo em Inglês | MEDLINE | ID: mdl-32877290

RESUMO

The relationship between overweight/obesity (excess of weight [EW]) and iron deficiency (ID) is not well defined. Objective: To analyze the relationship between EW and ID in healthy adolescents, assessing the contribution of new diagnostic measures of iron status and erythropoietic activity. Method: A cross-sectional study was made of 405 healthy adolescents, 12-16 years of age. A total of 289 were normal weight (NW) and 116 were otherwise healthy EW. Epidemiological, socioeconomic, diet, BMI Z-score, CRP (C-reactive protein), hematological, iron status, and erythropoietic activity parameters were measured. Statistical tests were Student's, analysis of variance (ANOVA), Chi-square, Pearson's correlation, and odds ratio. Results: ID prevalence in the EW group was 22.6% vs. 29.5% in the NW group (p: 0.3). Greater body weight was associated with lower reticulocyte hemoglobin content (CHr) (NW: 31.3 ± 1.7 pg vs. OW: 30.2 ± 1.7 pg, p: 0.007) and greater CRP (NW: 0.1 ± 0.2 mg/dL vs. OW: 0.2 ± 0.18 mg/dL, p < 0.001), leukocytes (NW: 6.69 ± 1.57 × 103/L vs. OW: 7.43 ± 1.63 × 103/L, p < 0.02), platelets (NW: 265.6 ± 58.9 × 103/L vs. OW: 291.8 ± 54.4 × 103/L, p < 0.002), ferritin (NW: 32.1 ± 17.9 ng/mL vs. OW: 42.8 ± 20.3 ng/mL, p: 0.01), serum transferrin receptor (sTfR) (NW: 1.39 ± 0.4 mg/L vs. OW: 1.73 ± 0.45 mg/L, p: 0.008), sTfR-F index (sTfR/log Ferritin) (NW: 1.06 ± 0.7 vs. OW: 1.33 ± 0.85, p: 0.036) and reticulocyte count (NW: 54.2 ± 18 × 103/L vs. OW: 65.4 ± 24.2 × 103/L, p: 0.003). A positive correlation was observed between the BMI Z-score and CRP, ferritin, sTfR, leukocytes, platelets, and reticulocyte count, and a negative one between the BMI Z-score and CHr and medium corpuscular volume. Conclusions: The prevalence of ID in otherwise healthy EW adolescents was no higher than in NW. The effect of obesity on iron status was low. The findings reveal the concomitant low-grade inflammation, and probably the effect of adiposity on erythropoietic activity. Specific cutoff values for ID in adolescents with OW need to be defined.


Assuntos
Anemia Ferropriva/sangue , Nível de Saúde , Ferro/sangue , Obesidade Infantil/sangue , Adiposidade , Adolescente , Biomarcadores/sangue , Índice de Massa Corporal , Estudos de Casos e Controles , Estudos Transversais , Feminino , Humanos , Masculino
7.
Eur J Pediatr ; 179(10): 1587-1595, 2020 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-32342190

RESUMO

Iron deficiency anaemia continues to be the world's most important cause of years lived with disability in children and adolescents. Assessment of iron deficiency traditionally depended on laboratory parameters that may be modified by inflammation states, including obesity, which is nowadays a current condition in adolescent population of high-income countries. The present study ascertains the prevalence of iron deficiency and its related factors in adolescents, using the serum transferrin receptor and the reticulocyte haemoglobin content, in order to avoid this confusing effect of classical parameters. A cross-sectional study was conducted on a population-based representative sample for teenagers in Almería (Spain), of 405 subjects aged 12 to 16 years. Iron deficiency was present in 13.3% of adolescents, but iron deficiency anaemia only in 1.2%. Multivariate logistic regression analyses showed that being part of an immigrant family, a low iron bioavailability diet, meat consumption below four times a week and fish consumption below twice a week, were independent risk factors for iron deficiency.Conclusion: This study provides an estimate iron deficiency prevalence of 13.3% in Spanish healthy adolescents, avoiding potential confounding factors through the use of new iron status parameters, based on a wide representative sample of adolescents from the city of Almería. What is Known: • For children and adolescents, iron deficiency anaemia continues to be the world's most important cause of years lived with disability. • Assessment of iron deficiency has traditionally depended on laboratory parameters that may be modified by inflammatory states, including obesity. What is New: • Iron deficiency prevalence and their related factors were analysed in Spanish adolescents, avoiding potential confounding factors through the use of sTfR and CHr. • Being part of an immigrant family and consuming a low iron bioavailability diet are independent risk factors for iron deficiency.


Assuntos
Anemia Ferropriva , Adolescente , Anemia Ferropriva/epidemiologia , Criança , Estudos Transversais , Hemoglobinas/análise , Humanos , Prevalência , Reticulócitos , Espanha/epidemiologia
8.
Eur J Pediatr ; 178(1): 41-49, 2019 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-30264352

RESUMO

This cross-sectional study, conducted on a population-based representative sample, evaluates the usefulness of reticulocyte haemoglobin content (CHr), serum transferrin receptor (sTfR) and sTfR/log ferritin (sTfR-F index) to recognise iron deficiency (ID) without anaemia, provides specific cut-off points for age and gender, and proposes a new definition of ID. A total of 1239 healthy children and adolescents aged 1-16 years were included. Complete blood count, iron biomarkers, erythropoietin, C-reactive protein, CHr, sTfR, and sTfR-F index were determined. ROC curves were obtained and sensitivity, specificity, predictive values, likelihood ratios, and accuracy for each specific cut-off points were calculated. Seventy-three had ID without anaemia. Area under the curve for sTfR-F index, sTfR and CHr were 0.97 (CI95% 0.95-0.99), 0.87 (CI95% 0.82-0.92) and 0.68 (CI95% 0.61-0.74), respectively. The following cut-off points defined ID: sTfR-F Index > 1.5 (1-5 years and 12-16 years boys) and > 1.4 (6-11 years and 12-16 years girls); sTfR (mg/L) > 1.9 (1-5 years), > 1.8 (6-11 years), > 1.75 (12-16 years girls) and > 1.95 (12-16 years boys); and CHr (pg) < 27 (1-5 years) and < 28.5 (6-16 years).Conclusions: CHr, sTfR and the sTfR-F index are useful parameters to discriminate ID without anaemia in children and adolescents, and specific cut-off values have been established. The combination of these new markers offers an alternative definition of ID with suitable discriminatory power. What is Known: • In adults, reticulocyte haemoglobin content (CHr), serum transferrin receptor (sTfR) and sTfR/log ferritin index (sTfR-F index) have been evaluated and recognised as reliable indicators of iron deficiency (ID). • Clinical manifestations of ID may be present in stages prior to anaemia, and the diagnosis of ID without anaemia continues to pose problems. What is New: • CHr, sTfR and the sTfR-F index are useful parameters in diagnosis of ID in childhood and adolescence when anaemia is not present. • We propose a new strategy for the diagnosis of ID in childhood and adolescence, based on the combination of these measures, which offer greater discriminatory power than the classical parameters.


Assuntos
Anemia Ferropriva/diagnóstico , Ferritinas/sangue , Hemoglobinas/análise , Receptores da Transferrina/sangue , Reticulócitos/metabolismo , Adolescente , Área Sob a Curva , Biomarcadores/sangue , Criança , Pré-Escolar , Estudos Transversais , Feminino , Humanos , Lactente , Ferro/metabolismo , Deficiências de Ferro , Masculino , Curva ROC
9.
Artigo em Espanhol | LILACS, BNUY, UY-BNMED | ID: biblio-1088685

RESUMO

La alucinosis peduncular es el término utilizado para describir una forma rara de alucinaciones visuales complejas, vívidas, coloridas y generalmente recurrentes que ocurren en relación a lesiones del tronco encefálico y el tálamo. Es una patología infrecuente y su fisiopatología es controvertida. Describimos el caso de una mujer de 38 años con alucinosis peduncular asociada a compresión extrínseca del tronco encefálico secundaria a un schwannoma vestibular. Analizamos las características clínicas y los mecanismos fisiopatológicos subyacentes.


Peduncular hallucinosis is a clinical condition characterized by vivid, colorful, complex visual hallucinations that often recur in time and are described in association with midbrain and thalamic lesions. It is a rare phenomenon and its precise pathophysiology is unknown. We describe the case of a 38-year-old woman who developed peduncular hallucinosis in relation to extrinsic compression of the midbrain secondary to a vestibular schwannoma. Clinical features and underlying pathophysiological mechanisms are discussed.


A alucinose peduncular é o termo usado para descrever uma forma rara de alucinações visuais complexas, vívidas, coloridas e geralmente recorrentes que ocorrem em relação às lesões do tronco encefálico e do tálamo. É uma patologia infreqüente e sua fisiopatologia é controversa. Descrevemos o caso de uma mulher de 38 anos de idade com alucinose peduncular associada à compressão extrínseca do tronco encefálico secundária ao schwannoma vestibular. Analisamos as características clínicas e os mecanismos fisiopatológicos subjacentes.


Assuntos
Humanos , Feminino , Adulto , Vias Visuais/fisiopatologia , Tronco Encefálico/fisiopatologia , Neuroma Acústico/complicações , Alucinações/etiologia , Neuroma Acústico/diagnóstico por imagem , Constrição Patológica/complicações
10.
Lung ; 196(6): 761-767, 2018 12.
Artigo em Inglês | MEDLINE | ID: mdl-30284025

RESUMO

INTRODUCTION: Poor sleep quality and excessive daytime sleepiness are common in patients with cystic fibrosis (CF), and both are negatively correlated with health-related quality of life (HRQoL). The objective of our study was to evaluate subjective and objective sleep quality in adult CF patients and its effect on HRQoL. MATERIALS AND METHODS: This was a descriptive, prospective, cross-sectional study of CF patients > 18 years of age. Patients underwent nocturnal polysomnography (PSG) and were administered the Pittsburgh Sleep Quality Index questionnaire (PSQI) and the Cystic Fibrosis Quality of Life Questionnaire (CFQR 14 + Spain). RESULTS: The study included 23 patients, 14 women (61%). The mean age of the participants was 32 + 18 years. The mean PSQI score was 5.57 + 3.55; 13 (56.5%) of the patients were poor sleepers, and 13% reported poor sleep quality; seven (30%) had sleep latency > 30 min, 10 (43.5%) had sleep efficiency < 85%. Nineteen underwent polysomnography. According to PSG measurements, sleep efficiency was less than 90% in 61% of the patients. Pathological values were found for the following parameters: intra-sleep wakefulness in 12 patients (63%); microarousal index in 12 patients (63%); and apnea-hypopnea index (AHI) in 2 patients. The desaturation time with SpO2 < 90% (T90) was > 30% in 3 patients. We observed a significant correlation between PSQI and all dimensions of CFQR 14. CONCLUSIONS: Subjective and objective sleep efficiency decreases in adult CF patients. Sleep quality has an impact on HRQoL. The PSQI questionnaire was able to discriminate sleep quality.


Assuntos
Fibrose Cística/fisiopatologia , Qualidade de Vida , Transtornos Intrínsecos do Sono/fisiopatologia , Latência do Sono , Adolescente , Adulto , Estudos Transversais , Fibrose Cística/complicações , Feminino , Humanos , Hipóxia/etiologia , Masculino , Pessoa de Meia-Idade , Oxigênio/sangue , Polissonografia , Estudos Prospectivos , Transtornos Intrínsecos do Sono/etiologia , Inquéritos e Questionários , Adulto Jovem
11.
J Pediatr Hematol Oncol ; 40(4): 298-303, 2018 05.
Artigo em Inglês | MEDLINE | ID: mdl-29561304

RESUMO

Assessing iron status in a pediatric population is not easy, as it is based on parameters that undergo physiological variations in childhood and adolescence. Analysis of the reticulocyte hemoglobin content (CHr) to screen for iron deficiency may increase the accuracy of diagnosis, but, to date, reference values in healthy adolescents have not been adequately determined. A cross-sectional study was conducted on a population-based representative sample in the city of Almería (Spain), with 253 healthy non-iron-deficient (ID) subjects, aged 12 to 16 years. The mean CHr value was 31.6±1.3 pg. The CHr 2.5 percentile was 28.7 pg. There were no significant differences as regards age or sex. In the multivariate linear regression analysis, sex did not influence the variability of CHr, but it was related to age. CHr was influenced by hemoglobin and the Mentzer index, as well as by functional iron indicators such as erythrocyte protoporphyrin and serum transferrin receptor. These independent variables predicted two thirds of the variability in healthy adolescents (R=0.55). This study provides CHr reference ranges in healthy adolescents for use in clinical practice for the early detection of ID states. In populations with similar sociodemographic characteristics, values above the 2.5 percentile rule out ID, as values under the 2.5 percentile could be suggestive of functional ID.


Assuntos
Hemoglobinas/metabolismo , Ferro/sangue , Reticulócitos/metabolismo , Adolescente , Fatores Etários , Criança , Estudos Transversais , Feminino , Humanos , Masculino , Fatores Sexuais , Espanha
12.
J Pediatr Hematol Oncol ; 38(7): e207-12, 2016 10.
Artigo em Inglês | MEDLINE | ID: mdl-27403769

RESUMO

Reticulocyte hemoglobin content (CHr) is considered an indicator of functional iron deficiency, but is understudied in children. The goals of this study are to determine the reference intervals for CHr in healthy children, and their relation with iron parameters, erythropoiesis, and individual conditions. A total of 902 children without iron deficiency, aged 1 to 11 years were analyzed in a cross-sectional study. Besides a physical examination of the subjects and a questionnaire completed by their parents, the complete blood count, serum transferrin receptor, ferritin, transferrin saturation, erythrocyte protoporphyrin, serum erythropoietin, C-reactive protein, and CHr levels were measured. Changes in CHr, iron status, and erythropoiesis at different age intervals were analyzed and linear multiple regression was used to identify the factors that determine CHr variability. Mean value obtained for CHr was 30.9±1.8 pg (P2.5-P97.5: 26.9 to 34.3 pg), but the influence of age on CHr (the values increased with age) and on the iron parameters justified the establishment of different reference ranges. In addition to age, nutritional status, hematologic measurements, reticulocytes, transferrin saturation, and erythrocyte protoporphyrin accounted for 39% of CHr variability.


Assuntos
Hemoglobinas/análise , Ferro/sangue , Reticulócitos/química , Criança , Pré-Escolar , Estudos Transversais , Eritropoetina/sangue , Feminino , Humanos , Lactente , Masculino , Receptores da Transferrina/sangue , Valores de Referência
13.
Eur J Paediatr Neurol ; 20(5): 745-9, 2016 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-27262616

RESUMO

BACKGROUND: The Gamma-knife technique is a safe and effective option for the treatment of hypothalamic hamartomas that produce epileptic seizures refractory to medical treatment and/or serious behavioral disorders. After this type of radiosurgery, an adequate symptomatic control is normally achieved, with notable decrease or even disappearance of the seizures. Radiological changes, such as a decrease in the size of the tumor or adjacent edema secondary to non-necrotizing radioinduced inflammatory reaction are unusual consequences. Side effects and neurological complications are also rare events. CASE PRESENTATION: This report describes an unusual case of complete radiological resolution of a hypothalamic hamartoma as well as neurological complications after Gamma-knife surgery (receiving 13 Gy to the 85% isodose line, 1 cm(3) of tumor volume) in a 8-year-old boy who suffered from severe refractory seizures. After radiosurgery, the patient experienced a notable improvement in his symptoms, achieving seizure cessation within 3 months. However, 4 months after the procedure he presented drowsiness, fever and decreased level of consciousness due to a direct effect on the hypothalamus with local and regional edema secondary to the radiosurgery that was performed. He was successfully treated with corticosteroids (with a total duration of 11 months), and twelve months after the surgery, complete disappearance of both the nodular lesion and the secondary edema was observed. The patient remains seizure-free in the last 16 months, with remarkable changes in his behavior. CONCLUSIONS: The present case shows that complete radiological resolution of a hypothalamic hamartoma after Gamma-knife technique is unusual but possible, without long-term neurological consequences. Nevertheless, despite its low incidence, if a patient presents neurological symptoms, primarily during the first year after intervention, possible complications of this type of surgery must be taken into account.


Assuntos
Transtornos da Consciência/etiologia , Hamartoma/terapia , Doenças Hipotalâmicas/terapia , Radiocirurgia/efeitos adversos , Convulsões/etiologia , Criança , Humanos , Imageamento por Ressonância Magnética , Masculino
14.
Pediatr Hematol Oncol ; 33(2): 109-20, 2016 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-26950203

RESUMO

ABSTARCT The aims of this study were to determine appropriate reference ranges for serum transferrin receptor (sTfR) and sTfR/log ferritin (sTfR-F index) in healthy children and their relationship with iron parameters, erythropoiesis, and other conditions presented by the subject. A total of 902 children with normal iron status, aged 1-11 years, were included in a cross-sectional study. A physical examination was conducted and z-score of body mass index (zBMI) obtained. Complete blood count, iron biomarkers, erythropoietin, C-reactive protein, sTfR, and sTfR/log ferritin were determined. Linear multiple regression was applied to identify the factors that determined sTfR and sTfR-F index variability. Mean values for sTfR and sTfR-F index were 1.22 ± 0.28 mg/L (95% confidence interval [CI]: 1.2-1.23) and 0.87 ± 0.25 (95% CI: 0.85-0.88). The reference intervals (2.5th to 97.5th percentiles [P2.5-P97.5]) were 0.78-1.9 mg/L and 0.49-1.46, respectively. sTfR and sTfR-F values decreased with age (P <.03 and P <.0001, respectively). No changes were observed with sex. Changes in sTfR and sTfR-F index were consistent with ferritin and erythropoietin variations. Iron biomarkers, erythropoietin, and zBMI predicted 19% and 18.1% of the sTfR and sTfR-F index variability. The results provide reference ranges for sTfR and sTfR-F index in healthy children for clinical use in the assessment of body iron status. Both biomarkers are predicted by iron parameters, erythropoietin, and zBMI.


Assuntos
Ferritinas/sangue , Receptores da Transferrina/sangue , Índice de Massa Corporal , Criança , Pré-Escolar , Estudos Transversais , Eritropoetina/sangue , Feminino , Humanos , Lactente , Masculino , Valores de Referência
15.
J Pediatr Hematol Oncol ; 37(4): 274-80, 2015 May.
Artigo em Inglês | MEDLINE | ID: mdl-25354256

RESUMO

Adolescence is a period of increased iron requirements, which impact on iron status. The purpose of this research is to determine the reference intervals for serum transferrin receptor (sTfR) and sTfR/log ferritin index (sTfR-F index) in healthy adolescents, and their relation with iron parameters and erythropoiesis. A total of 253 healthy adolescents without overweight, aged 12 to 16 years, were selected in a cross-sectional study. Hemoglobin, red cell indices, reticulocyte hemoglobin content (rHb), reticulocytes, ferritin, transferrin saturation, erythrocyte protoporphirin, erythropoietin, C-reactive protein, sTfR, and sTfR-F index were measured. Changes in erythropoiesis and iron status in the age interval were observed and analyzed, and linear multiple regression was applied to identify the factors that determine the variability of sTfR and sTfR-F index. Mean values for sTfR and sTfR-F index were 1.32 ± 0.3 mg/L (95% CI, 1.3-1.36) and 0.9 ± 0.25 (95% CI, 0.87-0.93). The reference intervals were 0.84 to 1.97 mg/L and 0.51 to 1.44, respectively. sTfR and sTfR-F index values were significantly higher in boys (1.39 ± 0.3 vs. 1.23 ± 0.26 mg/L, P<0.0001 and 0.93 ± 0.37 vs. 0.86 ± 0.22, P<0.04) and decreased with age (P<0.0001 and 0.04, respectively). No changes were recorded in erythropoietin. Age, sex, pubertal status, and ferritin predicted 24.1% of sTfR variability and age, sex, pubertal status, transferrin saturation, rHb, erythrocytes, and reticulocytes predicted 15% of sTfR-F index variability.


Assuntos
Ferritinas/sangue , Receptores da Transferrina/sangue , Adolescente , Criança , Estudos Transversais , Eritropoetina/sangue , Feminino , Humanos , Masculino , Valores de Referência , Caracteres Sexuais
16.
Eur J Paediatr Neurol ; 17(5): 447-53, 2013 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-23660196

RESUMO

Acute hemicerebellitis in childhood is an extremely rare unilateral presentation of cerebellitis mimicking a tumour. Its aetiology is unknown, although an inflammatory or postinfectious origin is presumed. Its clinical outcome is generally good and a self-limited evolution, in the absence of specific treatment, is usually expected. MRI findings can be misunderstood leading to erroneous diagnosis and invasive treatments. Clinical improvement and regression of the pathological findings in serial MRI will help differentiate acute hemicerebellitis from a neoplastic process. Surgical procedures should be performed only in case of clinical deterioration. We present a case of pseudotumoral hemicerebellitis in an eight-year-old girl, presenting with severe headache. This paper provides a review on hemicerebellitis and highlights the clinical, diagnostic, therapeutic features and outcome of this entity.


Assuntos
Cerebelo/imunologia , Cerebelo/patologia , Encefalite/diagnóstico , Encefalite/terapia , Doença Aguda , Criança , Diagnóstico Diferencial , Encefalite/patologia , Feminino , Humanos , Imageamento por Ressonância Magnética/métodos , Resultado do Tratamento
17.
Eur J Endocrinol ; 167(3): 387-92, 2012 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-22728345

RESUMO

OBJECTIVES: To determine the status of iodine nutrition in children and adolescents in Almería, Spain. To calculate prevalence of thyroid autoimmunity (TA) and autoimmune thyroiditis (AT) in pediatric ages and to research into associated factors. METHODS: Cross-sectional epidemiological study. By a multistage probability sampling 1387 children and adolescents aged between 1 and 16 were selected. Physical examination was carried out including neck palpation. Parents were asked about eating habits as well as about social and demographic aspects. Urinary iodine, free thyroxine, TSH, antiperoxidase and antithyroglobulin antibodies were measured. TA was diagnosed when any antibody was positive and AT when autoimmunity was associated with impaired thyroid function or goitre. Results are shown using percentages (and its 95% confidence interval). To study associated factors we used multiple logistic regression, quantifying the relation with odds ratio (OR), and multiple lineal regression. RESULTS: Median urinary iodine concentration was 199.5 µg/l. The prevalences of TA and AT were 3.7% (2.4-5.0) and 1.4% (0.4-2.4). TA is associated with female sex (OR 2.78; P<0.001) and age (OR 1.30; P<0.001). Iodine status is associated with the intake of milk and dairy product (P<0.001) and vegetable (P=0.021) but not with use of iodized salt at home (P=0.1). CONCLUSIONS: The iodine supply in children and adolescents in our city is optimal. Milk and dairy products are the most important iodine sources. TA and AT are prevalent in pediatric ages in our city mainly in females and older subjects.


Assuntos
Iodo/administração & dosagem , Glândula Tireoide/imunologia , Tireoidite Autoimune/tratamento farmacológico , Tireoidite Autoimune/epidemiologia , Adolescente , Criança , Pré-Escolar , Estudos Transversais , Feminino , Humanos , Lactente , Iodo/sangue , Masculino , Prevalência , Tireoidite Autoimune/imunologia
18.
In. Montes, María José; Retamoso, Irene; Vázquez, Cristina. El dolor: un abordaje interdisciplinario. Montevideo, Zona, 2012. p.143-160.
Monografia em Espanhol | LILACS, UY-BNMED, BNUY | ID: biblio-1519394
19.
20.
In. Montes, María José; Retamoso, Irene; Vázquez, Cristina. El dolor: un abordaje interdisciplinario. Montevideo, Zona, 2012. p.294-318.
Monografia em Espanhol | LILACS, UY-BNMED, BNUY | ID: biblio-1519420
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