Abstract Introduction: The global incidence of sickle cell disease (SCD) is approximately 300.000 births per year, and the condition is associated with significant morbidity and mortality in pediatric age. This study aimed to describe the sociodemographic and clinical characteristics of children up to five years of age with SCD in a Portuguese center. Methods: This was a descriptive retrospective study of children aged until five years with a diagnosis of SCD and hematologic follow-up in a level II Portuguese hospital between January 2010 and December 2019. Results: Eighty-six patients were included, mostly of African descendent and homozygotic for hemoglobin S. The median age at diagnosis was five months, obtained through neonatal screening in 44.2%, in the context of hospitalization in 34.9%, and in ambulatory observation in 17.4% of patients. A total of 96.5% of cases were compliant with the Portuguese National Vaccination (PNV) Program, and 48.8% completed the extra-PNV scheme. All patients were under folic acid supplementation, 98% were under amoxicillin prophylaxis, and 6.9% were under hydroxycarbamide. Transcranial Doppler was conducted in 68.6% of patients and was altered in only one, echocardiogram was performed in 72.1% of patients and showed left ventricle dilatation in 21%, and overnight polysomnography was performed in 24.4% of patients and revealed obstructive sleep apnea in 95.2%. Each child had an average of four hospitalizations during the study period, with the most common diagnosis being vaso-occlusive crisis in 38.3%, followed by fever of unknow origin in 23.4%, upper airway infection in 17.8%, bacterial pneumonia and splenic sequestration in 10.7% each, and worsening anemia in 9.5%. Discussion: Given the chronicity of SCD and the multiplicity of associated comorbidities, it is essential to reinforce the importance of multidisciplinary follow-up and family engagement in treatment.

Resumo Introdução: A doença das células falciformes (DCF) ocorre em cerca de 300.000 nascimentos por ano a nível mundial, associando-se a morbimortalidade significativa em idade pediátrica. Este estudo pretendeu fazer a caracterização sociodemográfica e clínica da população até aos cinco anos com DCF seguida num centro português. Métodos: Estudo retrospetivo descritivo de crianças até aos cinco anos de idade com DCF e seguimento em consulta de Hematologia pediátrica num hospital português de nível II entre 2010 e 2019. Resultados: Foram incluídas 86 crianças, maioritariamente de ascendência africana e homozigóticos para a hemoglobina S. A mediana de idades ao diagnóstico foi de cinco meses, tendo as idades sido obtidas obtida através de rastreio neonatal em 44,2% dos casos, em contexto de internamento em 34,9% e em contexto de consulta em 17,4%. O Programa Nacional de Vacinação (PNV) foi cumprido em 96,5% e 48,8% realizaram o esquema vacinal extra-PNV recomendado. Todos os doentes estavam a receber medicação com ácido fólico, 98% estava a receber amoxicilina em regime profilático e 6,9% hidroxicarbamida. No total, 68,6% efetuaram Eco-Doppler transcraniano, que esteve alterado apenas numa criança; 72,1% realizaram ecocardiograma transtorácico, que revelou dilatação do ventrículo esquerdo em 21%; e 24,4% realizaram polissonografia, que revelou síndrome de apneia obstrutiva do sono em 95,2%. Cada criança teve em média quatro internamentos durante o período do estudo, sendo os diagnósticos mais frequentes crise vaso-oclusiva (38,3%), febre sem foco (23,4%), infeção respiratória alta (17,8%), pneumonia bacteriana e sequestro esplénico (10,7% cada) e agudização de anemia (9,5%). Discussão: Dada a cronicidade da DCF e a multiplicidade de comorbilidades associadas, é fundamental reforçar a importância do seguimento multidisciplinar e do envolvimento dos familiares no tratamento.

ABSTRACT Objective Overweight seems to be related to a higher prevalence of sleep disturbances. Decreased sleep duration and altered sleep quality are risk factors for obesity. Our aim was to compare the sleep pattern of overweight children with that of a matched control group and assess the relationship between sleep quality and obesity. Materials and methods Retrospective cohort study comparing 41 overweight children with a normal-weight control group, both submitted to polysomnography. The samples were matched for age, sex, and apnea-hypopnea index. Body mass index (BMI) z-scores were calculated using World Health Organization (WHO) growth charts. Insulin resistance in the study group was determined using the homeostatic model assessment for insulin resistance (HOMA-IR). Sleep patterns were compared. The statistical analysis was performed using SPSS® version 21. Results The mean age (± standard deviation) of the population was 10 ± 3.4 years (min. 5 years; max. 17 years). Fifty-six percent of the participants in both groups were girls. N3% was lower in the study group (18.95 ± 6.18%) compared with the control group (21.61 ± 7.39%; t (40) = 2.156, p = 0.037). We found a correlation in the study group between HOMA-IR and N3% (Rs = -0.434, p = 0.008). Conclusion The present study suggests a link between overweight/obesity and altered sleep quality due to compromised non-rapid eye movement sleep, an indirect marker of sleep quality. There was also a link between slow-wave sleep duration and insulin resistance. We must find a strategy to provide adequate slow-wave sleep duration to reduce the obesity epidemic at young ages. Further research is needed.

RESUMO A hipercalcemia é um distúrbio metabólico raro em pediatria, potencialmente fatal, apresentando um vasto diagnóstico diferencial, incluindo neoplasias. Relatamos aqui o caso de uma criança de 3 anos, previamente saudável, admitida no serviço de urgência por fadiga, hiporreatividade, febre e claudicação da marcha com 5 dias de evolução, de agravamento progressivo. À observação, apresentava-se inconsciente (escore de coma Glasgow: 8). Laboratorialmente, apresentava hipercalcemia grave (cálcio total 21,39mg/dL, ionizado 2,93mmol/L) e anemia microcítica. Iniciou hiper-hidratação e foi transferido para a unidade de cuidados intensivos pediátricos. Instituiu-se hemodiafiltração venovenosa contínua com soluto livre de cálcio, ocorrendo a progressiva normalização da calcemia, com melhoria do estado de consciência. Administrou-se zolendronato. Excluíram-se causas metabólicas, infecciosas e intoxicação. O mielograma permitiu o diagnóstico de leucemia linfoblástica aguda. A hipercalcemia associada à malignidade em pediatria é rara, ocorrendo como forma de apresentação da neoplasia ou na recorrência desta. Em situações com risco de vida iminente, deve se considerar hemodiafiltração venovenosa contínua.

ABSTRACT Hypercalcemia is a rare metabolic disorder in children and is potentially fatal. It has a wide differential diagnosis, including cancer. Here, we report the case of a previously healthy 3-year-old who was admitted to the emergency room with fatigue, hyporeactivity, fever and limping gait that had evolved over 5 days and that was progressively worsening. On examination the patient was unconscious (Glasgow coma score: 8). Laboratory tests indicated severe hypercalcemia (total calcium 21.39mg/dL, ionized calcium 2.93mmol/L) and microcytic anemia. Hyperhydration was initiated, and the child was transferred to the pediatric intensive care unit. Continuous venovenous hemodiafiltration with calcium-free solution was instituted, which brought progressive normalization of serum calcium and an improved state of consciousness. Zoledronate was administered, and metabolic and infectious causes and poisoning were excluded. The bone marrow smear revealed a diagnosis of acute lymphoblastic leukemia. Hypercalcemia associated with malignancy in children is rare and occurs as a form of cancer presentation or recurrence. Continuous venovenous hemodiafiltration should be considered in situations where there is imminent risk to life.

RESUMO OBJETIVO: Estudar o efeito de dois fluidos de manutenção intravenosos sobre o sódio (Na) plasmático e o equilíbrio ácido-base em pacientes de terapia intensiva pediátrica durante as primeiras 24 horas de internação. MÉTODOS: Foi feito um estudo controlado randomizado prospectivo. Alocamos aleatoriamente 233 pacientes para os grupos: (A) NaCl a 0,9% e (B) NaCl a 0,45%. Os pacientes com um dia a 18 anos apresentavam concentrações normais de eletrólitos e sofriam de insulto agudo (médico/cirúrgico). Principal resultado: variação no sódio plasmático. Testes paramétricos: teste t, Anova, qui-quadrado. O nível de relevância estatística foi estabelecido em a = 0,05. RESULTADOS: Grupo A (n = 130): o Na sérico aumentou 2,91 (± 3,9) mmol L-1 em 24 h (p < 0,01); 2% dos pacientes apresentaram Na acima de 150 mmol L-1. Concentração média de Na na urina: 106,6 (± 56,8) mmol L-1. Sem alteração no pH em 0 e 24 horas. Grupo B (n = 103): o Na sérico não apresentou alterações estatisticamente significativas; 15% dos pacientes apresentaram Na < 135 mmol L-1 em 24 h. Os dois fluidos tiveram efeitos diferentes sobre as situações respiratória e pós-operatória. CONCLUSÃO: O uso de solução fisiológica a 0,9% foi associado à menor incidência de distúrbios eletrolíticos.

ABSTRACT OBJECTIVES: To study the effect of two intravenous maintenance fluids on plasma sodium (Na), and acid-base balance in pediatric intensive care patients during the first 24 h of hospitalization. METHODS: A prospective randomized controlled study was performed, which allocated 233 patients to groups: (A) NaCl 0.9% or (B) NaCl 0.45%. Patients were aged 1 day to 18 years, had normal electrolyte concentrations, and suffered an acute insult (medical/surgical). Main outcome measured: change in plasma sodium. Parametric tests: t-tests, ANOVA, X 2 statistical significance level was set at a = 0.05. RESULTS: Group A (n = 130): serum Na increased by 2.91 (±3.9) mmol/L at 24 h (p < 0.01); 2% patients had Na higher than 150 mmol/L. Mean urinary Na: 106.6 (±56.8) mmol/L. No change in pH at 0 and 24 h. Group B (n = 103): serum Na did not display statistically significant changes. Fifteen percent of the patients had Na < 135 mmol/L at 24 h. The two fluids had different effects on respiratory and post-operative situations. CONCLUSIONS: The use of saline 0.9% was associated with a lower incidence of electrolyte disturbances.