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摘要: Background: Epilepsy associated with Prader-Willi syndrome (PWS) represents an early and important complication, often not clearly reported and described in the literature. Consequently, there are controversial data about the clinical characteristics of epilepsy and electroencephalographic (EEG) abnormalities found in these patients.
Data sources: Based on recent original publications, we have reviewed the different types of seizures and EEG findings in PWS patients, the response to antiepileptic treatment, and the prognosis of epilepsy.
Results: The frequency of epilepsy in PWS patients ranges from 4% to 26%. The types of seizure include generalized tonic-clonic seizures, complex partial seizures, atypical absence, staring spells, and myoclonic, tonic and hemiclonic seizures, but the most frequent type is focal epilepsy. Status epilepticus has never been reported. EEG abnormalities are not typical but variable in different patients. However, generalized and focal discharges are the most frequently reported findings. There is no evidence of relationship between the course of epilepsy and frequency, morphology and spread of EEG discharges. However, epilepsy in PWS patients is usually responsive to antiepileptic monotherapy with rapid seizure control and a good outcome.
Conclusions: The frequency of epilepsy is higher in PWS patients than in general populations and this complication can be a challenge for the clinicians of these patients. Prospective studies are needed to confirm the good long-term prognosis.

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  • Background: Continuous beta-agonist therapy, typically in the form of inhaled albuterol, is the first line therapy for the treatment of acute and severe bronchospasm in children. Although this treatment is commonly used, concerns about cardiotoxicity have been raised. We aimed to investigate the cardiotoxic effects of continuous beta-agonist therapy in children.
    Methods: We conducted a retrospective review of children admitted to the intensive care unit (ICU) between May 2008 and April 2009, who were treated with continuous beta-agonist therapy (intravenous and nebulized).
    Results: Twenty of the 36 children treated with continuous albuterol had repeated serum troponin-T and lactate levels measured. Eleven patients (55%) were also treated with continuous intravenous terbutaline. Elevated levels of troponin-T levels were found in 25% of children, and elevated lactate levels were found in 60%. However, all returned to normal levels within 48 hours of ICU admission, despite continued beta-agonist therapy. No children experienced arrhythmias during therapy. There was no association between intravenous terbutaline use and elevated troponin-T [odds ratio (OR), 1.3; 95% CI, 0.2-10.3] or with elevated serum lactate (OR, 0.6; 95% CI, 0.1-3.7). There was also no association between elevated troponin-T or lactate and ICU or hospital length of stay.
    Conclusions: In this small study, a significant proportion of children had elevated serum troponin-T and lactate levels while receiving inhaled continuous beta-agonist therapy, irrespective of intravenous therapy. However, these abnormal values all returned to normal within 48 hours of ICU admission and were not associated with increased duration of hospitalization.

  • Background: Heatwaves have a significant impact on population health including both morbidity and mortality. In this study we examined the association between heatwaves and emergency hospital admissions (EHAs) for renal diseases in children (aged 0-14 years) in Brisbane, Australia.
    Methods: Daily data on EHAs for renal diseases in children and exposure to temperature and air pollution were obtained for Brisbane city from January 1, 1996 to December 31, 2005. A time-stratified case-crossover design was used to compare the risks for renal diseases between heatwave and non-heatwave periods.
    Results: There were 1565 EHAs for renal diseases in children during the study period. Heatwaves exhibited a signifi cant impact on EHAs for renal diseases in children after adjusting for confounding factors (odds ratio: 3.6; 95% confidence interval: 1.4-9.5). The risk estimates differed with lags and the use of different heatwave defi nitions.
    Conclusions: There was a significant increase in EHAs for renal diseases in children during heatwaves in Brisbane, a subtropical city where people are well accustomed to warm weather. This finding may have significant implications for pediatric renal care, particularly in subtropical and tropical regions.

  • Background: Congenital heart disease (CHD) is the most common human birth defect. Genetic causes for CHD remain largely unknown. GATA transcription factor 5 (GATA 5) is an essential regulator for the heart development. Mutations in the GATA5 gene have been reported in patients with a variety of CHD. Since misregulation of gene expression have been associated with human diseases, we speculated that changed levels of cardiac transcription factors, GATA5, may mediate the development of CHD.
    Methods: In this study, GATA5 gene promoter was genetically and functionally analyzed in large cohorts of patients with ventricular septal defect (VSD) (n=343) and ethnic-matched healthy controls (n=348).
    Results: Two novel and heterozygous DNA sequence variants (DSVs), g.61051165A>G and g.61051463delC, were identified in three VSD patients, but not in the controls. In cultured cardiomyocytes, GATA5 gene promoter activities were significantly decreased by DSV g.61051165A>G and increased by DSV g.61051463delC. Moreover, fathers of the VSD patients carrying the same DSVs had reduced diastolic function of left ventricles. Three SNPs, g.61051279C>T (rs77067995), g.61051327A>C (rs145936691) and g.61051373G>A (rs80197101), and one novel heterozygous DSV, g.61051227C>T, were found in both VSD patients and controls with similar frequencies.
    Conclusion: Our data suggested that the DSVs in the GATA5 gene promoter may increase the susceptibility to the development of VSD as a risk factor.

  • Background: Systemic treatment with propranolol is proven to be effective for patients with hemangiomas with less side-effect. We used a propranolol gel for topical use on hemangiomas.
    Methods: In this retrospective study, we analyzed 148 patients who had been treated topically with propranolol gel for 12 weeks. We analyzed the data of patients and clinically gave each hemangioma a "hemangioma score" to determine the treatment success.
    Results: In 147 of the 148 patients, strong signs of resolution under treatment included lightening, paling, and less vascularization. The hemangioma score showed a signifi cant decrease during the treatment. Relevant serum levels of propranolol were not found. Adverse effects were rare and not related to propranolol.
    Conclusion: Topical treatment with propranolol gel is suitable for specific hemangiomas in addition to cryotherapy and systemic treatment with propranolol.

  • Background: Anemia is a widespread public health problem associated with an increased risk of morbidity and mortality. This study was undertaken to determine the cut-off value of hemoglobin for infant anemia.
    Methods: A cross-sectional retrospective study was carried out at well-baby clinics of a tertiary care hospital. A total of 1484 healthy infants aged between 4 to 24 months were included in the study. The relationship of hemoglobin (Hb) levels with mother age, birth weight, weight gain rate, feeding, and gender was evaluated.
    Results: The Hb levels were assessed in four age groups (4 months, 6 months, 9-12 months, and 15-24 months) and the cut-off values of Hb were determined. Hb cut-off values (5th percentile for age) were detected as 97 g/L and 93 g/L at 4 months and 6 months, respectively. In older infants, the 5th percentile was 90.5 g/L and 93.4 g/L at 9-12 months and 15-24 months, respectively. The two values were lower than the World Health Organization criteria for anemia, which could partly due to the lack of information on iron status in our population. However, this difference highlights the need for further studies on normal Hb levels in healthy infants in developing countries. Hb levels of females were higher in all age groups; however, a statistically significant difference was found in gender in only 6 month-old infants. No statistically significant difference was found among Hb levels, mother's age, birth weight, weight gain rate, and nutritional status.
    Conclusion: Hb cut-off values in infants should be re-evaluated and be compatible with growth and development of children in that community.

  • Background: Lung hypoplasia, pulmonary persistent hypertension of the newborn and its morphological changes are the main features in congenital diaphragmatic hernia (CDH). This study was undertaken to investigate if antenatal use of sildenafi l and/or bosentan attenuates vascular remodeling, promotes branching, and improves alveolarization in experimental nitrofeninduced CDH.
    Methods: Nitrofen (100 mg) was gavage-fed to pregnant rats at post conception day (PCD) 9 to induce CDH. The rats were randomized to 5 groups: 1) control; 2) nitrofen; 3) nitrofen+sildenafil 100 mg/kg per day at PCD 16-20; 4) nitrofen+bosentan 30 mg/kg per day, at PCD 16-20, and 5) nitrofen+bosentan+sildenafil, same doses and administration days. After cesarean delivery, the offsprings were sacrifi ced. The diaphragmatic defect and pulmonary hypoplasia were identifi ed, and the lungs were dissected. Arterial wall thickness, bronchiolar density and alveolarization were assessed.
    Results: The offsprings with CDH were characterized by severe pulmonary hypoplasia (lung weight-to-body weight ratio: 0.0263 [95% confidence interval (CI) 0.0242-0.0278)] in the nitrofen group versus 0.0385 (95% CI 0.0355-0.0424) in the control group (P=0.0001). Pulmonary arterial wall thickness was decreased to 3.0 (95% CI 2.8-3.7) μm in the nitrofen+sildenafil group versus 5.0 (95% CI 4.1-4.9) μm in the nitrofen group (P=0.02). Terminal bronchioles increased to 13.7 (95% CI 10.7-15.2) μm in the nitrofen+bosentan group in contrast to 8.7 (95% CI 7.2-9.4) μm in the nitrofen group (P=0.002). More significant differences (P=0.0001) were seen in terminal bronchioles in the nitrofen+sildenafil+bosentan group than in the nitrofen group [14.0 (95% CI 12.5-15.4) μm versus 8.5 (95% CI 7.1-9.3) μm]. Pulmonary arterial wall thickness was also decreased in the former group.
    Conclusions: In this rat model, antenatal treatment with sildenafi l attenuates vascular remodeling. Bosentan promotes the development of terminal bronchioles in nitrofen-induced CDH.

  • Background: Upper arm composition is a reflection of body protein and calorie reserves. However, there is a paucity of data on upper arm composition of children from African countries, including Nigeria. This study aimed to determine the composition of upper arm and nutritional status of school children in Abeokuta, Nigeria and to compare with international reference standards. The sensitivity and specifi city of upper arm muscle area by height (UAMAH) as a nutritional assessment tool was also determined.
    Methods: Five hundred and seventy children aged 5 to 19 years were selected from seven schools using multistage random sampling. Weight, height, mid-upper arm circumference (MUAC) and triceps skin fold thickness (TSF) were measured. Body mass index, upper arm muscle area (UAMA), upper arm fat area (UAFA), fat percentage and UAMAH were derived.
    Results: The TSF, UAFA and fat percentage were significantly higher in females than males at each age group. MUAC and UAMA were significantly higher in female children aged 10-14 years, whereas UAMA was significantly higher in male children aged 15-19 years. UAMA and UAFA of the children were lower than those of Americans but similar to those of Zimbabweans, and higher than those of Indians. The sensitivity and specifi city of UAMAH for detecting wasting were 80.8% and 63.9%, respectively, whereas the corresponding values for stunting were 32.2% and 58.2%, respectively.
    Conclusions: The school children studied have a combination of poor calorie and protein reserve. UAMAH may be a valuable tool for complete evaluation of the nutritional status of school children.

  • Background: Growth abnormalities are uniquely associated with autism spectrum disorders (ASD); however, the extent to which growth abnormalities are present has hardly been investigated. The current study aims to compare the differences in anthropometric parameters in a group of autistic Egyptian children and the healthy normal population.
    Methods: We recruited 100 children with ASD from the Outpatient Clinic for "Autistic Children" at the Medical Research Hospital of Excellence, National Research Centre in Cairo, Egypt. They were diagnosed by DSM-IV criteria of the American Psychiatric Association, Autism Diagnostic Interview-Revised, and Childhood Autism Rating Scale. Of these children at age of 3-10 years, 71 were males and 29 females. Eight anthropometric parameters were assessed in view of data of the healthy Egyptians of pertinent sex and age.
    Results: Weight and body mass index increased because of a signifi cant increase in subcutaneous fat thickness. This tendency with a probable decrease in muscle mass was more evident in male or in older children, likely resulting from sedentary life style and food selectivity.
    Conclusions: The Z head circumference score and its variance signifi cantly increased especially in males or older children, suggesting the relative overgrowth of the brain in a substantial percentage of Egyptian children with autism. We concluded that increased fat composition in Egyptian autistic children with decreased muscle mass necessitates tailoring a specially designed food supplementation program to ameliorate the severity of autism symptoms.

  • Background: Ongoing low-grade inflammation and endothelial dysfunction persist in children with coronary lesions diagnosed with Kawasaki disease (KD). Statins, frequently used in the management of high cholesterol, have also shown to improve surrogate markers of infl ammation and endothelial dysfunction. This study was undertaken to investigate the effi cacy and safety of pravastatin in children with coronary artery aneurysms due to KD.
    Methods: The study enrolled 14 healthy children and 13 male children, aged 2-10 years, with medium-to-giant coronary aneurysms for at least 12 months after the onset of KD. Pravastatin was given orally to the KD group at a dose of 5 mg/day for children under 5 and 10 mg/day for children older than 5 years. To determine the effects of pravastatin on endothelial function, high-frequency ultrasound was performed before the start of the study and 6 months after pravastatin therapy. The parameters measured were brachial artery flow-mediated dilation (FMD), non-flow mediated dilation (NMD), and carotid artery stiffness index (SI). High sensitive C-reactive protein (hs-CRP) levels, the circulating endothelial progenitor cells (EPCs) number, and serum lipid profiles were also determined at baseline and after 6 months of pravastatin treatment.
    Results: Before treatment, the KD group had significantly decreased FMD (P<0.05) and increased SI and hs-CRP levels (P<0.05) compared with controls. After 6 months of pravastatin therapy, FMD improved significantly compared to the baseline KD group (3.16±6.49 to 10.05±7.74, P<0.05), but remained significantly less than that in the control group with no signifi cant changes in NMD and SI. There were signifi cant decreases in markers of inflammation after treatment. The hs-CRP levels decreased signifi cantly from 2.93±0.81 mmol/L to 2.14±0.82 mmol/L (P<0.05) and the serum apo-B and apo-B/apo-A1 ratio were also reduced (P<0.05) in the KD group. However, the circulating EPC number was not signifi cantly different between baseline and that following pravastatin treatment in the KD group and the control group (P>0.05). No signifi cant complications were noted with paravastatin therapy.
    Conclusions: Pravastatin improves endothelial function and reduces low-grade chronic infl ammation in patients with coronary aneurysms due to KD. Children with coronary aneurysms due to KD may benefit from statin therapy.

  • Background: Despite the current obesity pandemic, childhood malnutrition remains an urgent, public health concern. Similar to the obesity pandemic, childhood malnutrition is influenced by genetic and a number of social, environmental and biological factors. In this study, we investigated the association between sleep duration and somatic growth in lean children.
    Methods: A stratified, randomly clustered sampling design was used to select fifth grade students from 10 primary schools in Shanghai. Based on a body mass index below the 15th percentile a subsample of 143 lean children aged 10-11 years old was defi ned. Sleep duration and other potential confounders were surveyed through parental or self-report questionnaires. Body measurements were collected and used to calculate the Z score of weight, height, body mass index as well as body fat percentage.
    Results: Compared with children who slept <9 hours, those who slept for ≥10 hours grew taller and gained more weight after adjusting for confounding factors. When children slept 9-10 hours, they had signifi cantly higher Z score of weight and body mass index.
    Conclusions: Prolonged sleep not only benefi ts weight gain but also improves height in lean children. Our findings might provide important public health advice such that prolonged sleep may be an effective modifi er of nutritional problems in childhood.

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