Febrile seizures are the most common convulsive disorder and one of the most common nervous system diseases in childhood. Generally, the prognosis is good. Recent studies have revealed a greater understanding about many issues related to the diagnosis and treatment of febrile seizures, including the definition of febrile seizures, clinical diagnosis and evaluation, drug treatment, and prevention. Clinicians should note the association between febrile seizures and epilepsy syndromes. Excessive examination and treatment for patients should be avoided. Effective communication with the parents of patients and health education are also the key points of diagnosis and treatment.
Intellectual disability, occurring in 1%-3% of the general population, is a common disease of the nervous system in children. Since diverse genetic and environmental factors contribute to its pathogenesis, the etiological diagnosis of intellectual disability is challenging with respect to the selection of diagnostic tests. It is important to determine the etiology of intellectual disability for the assessment of prognosis, treatment and the family plan. This paper summarizes the research progress in etiology and diagnosis for intellectual disability and introduces the recommended clinical genetics diagnostic approach from the American Academy of Pediatrics.
Intracranial infections are one of the most common neurological diseases in children and are associated with high mortality and morbidity. Intracranial hypertension and hydrocephalus are the common, fatal complications of intracranial infections, so early diagnosis and timely treatment are the keys to saving patients' lives and reducing neurological sequelae. This paper introduces the progress in the etiology, diagnosis, and treatment of intracranial hypertension and hydrocephalus in children with intracranial infections.
Objective To evaluate different degrees of punctate cerebral white matter damage (CWMD) using diffusion tensor imaging (DTI), and to investigate the value of DTI for CWMD in preterm infants. Methods Thirtyone preterm infants who were hospitalized in the Shengjing Hospital of China Medical University between November 2011 and April 2012 were enrolled and divided into focal CWMD (n=11), widespread CWMD (n=10), and normal groups (n=10). The apparent diffusion coefficient (ADC) and fractional anisotropy (FA) values were determined in the periventricular regions of patients in three groups, and comparison of the two indices between the three groups was performed using one-way analysis of variance. The correlation between the changes in ADC and FA values was analyzed using the Pearson coefficient, and the color-encoded FA maps in the three groups were evaluated. Results The ADC values in the focal CWMD and widespread CWMD groups were both significantly higher than in the normal group, while the FA values in the focal CWMD and widespread CWMD groups were both significantly lower than in the normal group. The FA value in the widespread CWMD group was significantly lower than in the focal CWMD group. The colorencoded FA maps after post-processing indicated that the normal group had the highest FA value in the periventricular white matter regions, followed by the focal CWMD group and the widespread CWMD group. Conclusions The DTI technique can quantitatively evaluate the degree of punctate CWMD. The FA value may be more accurate than the ADC value in the evaluation of CWMD.
Objective To study the association between two single nucleotide polymorphisms (SNP), rs2295080 and rs2536, in mammalian target of rapamycin (mTOR) gene and the susceptibility to pediatric epilepsy. Methods A case-control study was performed on 480 children with epilepsy (116 cases of refractory epilepsy) and 503 healthy children. SNP rs2295080 and rs2536 in the mTOR gene were detected by polymerase chain reaction restriction and fragment length polymorphisms (PCR-RFLP). Genotype and allele frequencies of SNP rs2295080 and rs2536 were compared between the children with epilepsy and healthy controls. Results There were no significant differences in the genotype and allele frequencies of SNP rs2295080 between the children with epilepsy and healthy controls. There were no significant differences in the genotype frequencies of SNP rs2536 between the two groups either, but the frequency of G allele of SNP rs2536 was higher in children with epilepsy than that in healthy controls (P=0.042, OR=1.344, 95%CI:1.010-1.789). Conclusions SNP rs2536 of mTOR gene may be associated with the risk of pediatric epilepsy.
Objective To evaluate the psychological state of children with epilepsy and analyze its influencing factors. Methods The Mental Health Scale for Child and Adolescent was used to survey 113 children with epilepsy and 114 normal children to evaluate and compare their psychological state. Questionnaires were used to investigate the general status of all subjects and the disease condition and treatment of children with epilepsy. The possible influencing factors for the psychological state of children with epilepsy were analyzed. Results The mental health status of children with epilepsy was poorer than that of normal children in cognition, thinking, emotion, will-behavior, and personality traits (P<0.05). Multivariate logistic regression analysis showed that family education, family relations, seizure frequency, seizure duration, EEG epileptiform discharges in the last six months, and number of types of antiepileptic drugs were correlated with the psychological state of children with epilepsy. Conclusions There is a wider range of psychological health problems in children with epilepsy than in normal children. Poor family living environment, poor seizure control, and use of many antiepileptic drugs are the risk factors affecting the psychological state of children with epilepsy. Improving family living environment, controlling seizures, and monotherapy help to improve the psychological state of children with epilepsy.
No abstract available
Objective To study the association between some factors in maternal pregnancy and childhood asthma with an onset before 3 years of age, and to provide a basis for the prevention and treatment of childhood asthma and further research on its pathogenesis. Methods A retrospective clinical epidemiological study was carried out in 100 children with asthma (age of onset <3 years) and 100 children without allergic disease who were randomly selected as controls. The related information of children and mothers was investigated by questionnaire survey, including general information, medical history, personal and family allergic history, perinatal data, and mothers' health and lifestyle during their pregnancy such as diet, disease, and environmental exposure. The main survey indices were preliminarily analyzed, selected, and assigned, and then the data were subjected to univariate and multivariate logistic regression analyses. Results The univariate and multivariate logistic regression analyses showed that the fetal sex, history of atopic disease before pregnancy, history of respiratory infection in pregnancy, and the intake of fish, shrimp, crab, meat and spicy food in pregnancy were significantly associated with childhood asthma with an onset before 3 years of age, with odds ratios of 2.868, 5.051, 4.640, 3.746, 2.971, 3.075, and 2.225, respectively. Conclusions Many factors in maternal pregnancy are associated with childhood asthma with an onset before 3 years of age, and the risk of which can be reduced by the prevention of respiratory infection and appropriate diet in pregnancy.
Objective To assess the quality control for the maximal expiratory flow-volume (MEFV) curve in school-age children. Methods Eight hundred and sixty-two children who had two or more MEFV manoeuvres were classified into ≥6-year-old (n=379), ≥8-year-old (n=210), ≥10-year-old (n=64), and 12-17-year-old groups (n=109). The parameters of quality control and concordance with quality control criteria for MEFV were compared between the two groups. In addition, patients who were diagnosed with asthma were classified into two groups, one with normal pulmonary function (n=155) and the other with abnormal pulmonary function (n=62), based on the results of spirometry. Differences in the parameters of quality control for spirometry were compared between the two groups. Results Eight hundred and sixty-two children underwent 2 367 MEFV manoeuvres, 97.8% of which met the start of test criterion for backward extrapolated volume (VBE) of less than 0.15 L, with the highest concordance in the ≥6-year-old group and the lowest concordance in the 12-17-year-old group. Three hundred and eighty-one children (44.2%) met the end of test criterion for forced expiratory time (FET) and the concordance in children over 10 years of age was lower than that in children under 10 years of age (P<0.05). Differences in two best forced expiratory volume in first second (FEV1) and forced vital capacity (FVC) manoeuvres were within 150 mL in 91.9% and 84.8%, respectively, of the children. The parameters of quality control for spirometry were better for asthmatic children with abnormal pulmonary function compared with asthmatic children with normal pulmonary function (P<0.05). Conclusions Concordance with the start of test criteria and the manoeuvre repeatability criteria is high, whereas the concordance with the end of test criteria is low. It is suggested that the concordance with the FET criteria should be improved.
Objective To investigate the basic clinical characteristics and drug resistance of Haemophilus influenzae (Hi) infection in hospitalized children in the past two years. Methods A retrospective cross-sectional study was conducted to analyze Hi strains isolated from the sputum and pharyngeal swabs of children aged 0-17 years who were hospitalized in the Third People's Hospital of Chengdu between June 2011 and May 2013. Results A total of 117 strains were isolated from 111 hospitalized children. There were 102 cases (91.9%) of respiratory infection and 9 cases (8.1%) of other diseases. The positive rates of Hi in children with bronchopneumonia or pneumonia (50.8%, 30/59) and in children with acute laryngotracheobronchitis (50.0%, 2/4) were relatively high, followed by in children with capillary bronchitis (34.6%, 9/26), in children with acute bronchitis (24.2%, 32/132), in children with herpangina (19.0%, 4/21), in children with asthmatoid bronchitis (17.9%, 5/28), in children with acute upper respiratory tract infection (11.8%, 9/76), in children with acute tonsillitis (8.2%, 7/85), and in children with neonatal pneumonia (5.6%, 3/54). There were significant differences in the rates of resistance to amoxicillin-clavulanate (15% vs 23%; P=0.010) and chloramphenicol (25% vs 8%; P=0.015) between the two survey years. The frequencice of β-lactamase-nonproducing-ampicillin-resistant (BLNAR) strains and β-lactamase-producing-amoxicilli/clavulanate-resistant (BLPACR) strains increased from 12% to 21% and from 13% to 19% respectively during the two survey years (P>0.05). Conclusions Hi plays an important role in the respiratory tract infection of children aged 0-17 years. The increasing trend of BLNAR and BLPACR rates makes it harder for antibiotic selection in clinical practice.
Objective To study the clinical values of basic vital signs in early identification of critical hand-footmouth disease (HFMD). Methods The clinical data of 358 children with severe HFMD [212 cases in stage 2 (central nervous system involvement) and 146 cases in stage 3 (earlier stage of cardiopulmonary failure, critical type)] were reviewed. The diagnostic values of peak temperature and duration of fever, as well as the heart rate (HR), respiratory rate (RR), systolic blood pressure (SBP), and diastolic blood pressure (DBP) in different age groups, for critical HFMD (stage 3) were analyzed using the receiver operating characteristic (ROC) curve. Results HFMD might progress to critical type in case of HR ≥148.5 beats/minutes, RR ≥36.5 times/minutes, SBP ≥95 mm Hg, and DBP ≥59 mm Hg among children aged 0-1 year. HR ≥142.5 times/minutes, RR ≥31.5 times/mintes, SBP ≥103 mm Hg, and DBP ≥60.5 mm Hg in children aged 1-2 years had a certain diagnostic value for critical HFMD. HFMD might progress to critical type in case of HR ≥139.5 times/minutes, RR ≥29.5 times/minutes, and SBP ≥103 mm Hg among children ≥3 years of age. The sensitivity and specificity of every indicator were higher than 0.517 and 0.769, respectively. The area under the ROC curve (AUC) for peak temperature was 0.507 (P=0.816, compared with AUC=0.5). When the duration of fever was ≥5.5 days, the sensitivity and specificity were 0.589 and 0.571, respectively. Conclusions HR, RR, and BP are good indicators to identify critical HFMD (stage 3) early. The optimal cut-off points conform to the age characteristics of children. DBP in children ≥3 years of age, peak temperature, and duration of fever have a low value in early identification of critical HFMD.
Objective To explore the correlation of heart rate variability (HRV) indices with cardiac troponin I (cTnI) and N-terminal pro-B-type natriuretic peptide (NT-proBNP) in children with Kawasaki disease (KD) and their prognostic value. Methods A total of 130 children with KD were assigned into coronary artery lesion (CAL) group (n=47) and non-coronary artery lesion (NCAL) group (n=83). Meanwhile, 110 healthy children and 29 children in the recovery stage of non-cardiovascular diseases were selected as control and non-KD groups, respectively. Patients in the four groups received 24-hour HRV monitoring. Levels of serum cTnI and NT-proBNP were measured in the KD and the non-KD group. Results Compared with the controls of the same sex and age, the KD patients had significantly reduced standard deviation of all normal sinus RR intervals (SDNN), mean of SDNN (SDNN index), percentage of successive normal sinus RR intervals >50 ms (pNN50), very low frequency (VLF), low frequency (LF), and high frequency (HF) but a significantly increased LF/HF ratio (P<0.05). The HRV indices including SDNN, standard deviation of all mean 5-minute RR intervals (SDANN), SDNN index, root mean squared successive difference, pNN50, VLF, LF, and HF in the CAL group all significantly decreased compared with those in the control and non-KD groups, while the LF/HF ratio was higher in the CAL group than in the control group (P<0.05). The serum levels of cTnI and NT-proBNP in the CAL and NCAL groups were significantly higher than those in the non-KD group (P<0.05). In children with KD, serum cTnI level was negatively correlated with SDNN and HF but positively correlated with the LF/HF ratio (P<0.05); serum NT-proBNP level was negatively correlated with SDNN, SDANN, and HF (P<0.05). Conclusions HRV indices have certain clinical significance in assessing CAL of children with KD.
Objective To gain more insight into congenital adrenal hyperplasia (CAH) by analyzing the clinical data of children with 21-hydroxylase-deficient CAH. Methods The clinical data of 52 children with 21-hydroxylasedeficient CAH were collected. Based on the disease severity and the presence of salt-losing manifestations, the children were classified into three groups:masculine type (n=15), salt-losing type (n=28), and atypical type (n=9). The clinical data of children with different types of CAH were analyzed and compared. Results The male-to-female ratio of the 52 cases was 1.6:1; the age of onset was less than 1 month after birth in 41 cases; 4 cases had a positive family history. Clitoral hypertrophy was the most common symptom in children with masculine CAH (87%). Pigmentation (89%), feeding difficulties and growth retardation (61%) were the most common symptoms in children with salt-losing CAH. Pigmentation (78%) was the most common symptom in children with atypical CAH. The three groups of children had different degrees of changes in the levels of adrenocorticotrophic hormone, cortisol, testosterone, and estradiol. Such changes were most pronounced in children with salt-losing CAH and were often accompanied by hyponatremia, hyperkalemia, and metabolic acidosis. After treatment with hydrocortisone and/or 9-alpha fluorohydrocortisone, cortical hormone levels improved in all the children, and the levels of cortisol, testosterone, estradiol, and electrolytes improved significantly after treatment in children with salt-losing CAH (P<0.05). In 22 patients who were followed up, 9 were rehospitalized due to infection, and 8 developed sexual precocity. Conclusions Different types of CAH have different clinical symptoms. It is important that hormone replacement should be initiated as early as possible to improve prognosis.
Objective To determine the clinical significance of milk protein-specific IgE (sIgE) for infants with cow's milk protein allergy (CMPA). Methods Ninety-six infants with CMPA were divided into IgE+ group (n=26) and IgE- group (n=70) and clinical characteristics were compared between the two groups. Infants were denied allergyinducing food and fed instead extensively hydrolyzed formulas or amino-acid formulas for 16 weeks before the two groups were compared. Results Twenty-seven percent of the infants were sIgE-seropositive. The first onset age of CMPA was significantly younger in the IgE+ group than in the IgE- group (P<0.05), and the family history of allergy and respiratory symptoms were significantly less common in the IgE- group than in the IgE+ group (P<0.05). Severe CMPA, gastrointestinal symptoms, underweight, growth retardation, anemia, and hypoproteinemia were significantly more common in the IgE- group than in the IgE+ group (P<0.05). Erythema, urticaria, vomiting, nasal discharge, cough, wheezing, and paroxysms of crying were major clinical symptoms of the IgE+ group, and their incidences were significantly higher in the IgE+ group than in the IgE- group (P<0.05); eczema, constipation, and diarrhea were major symptoms of the IgE- group, and their incidences were significantly higher in the IgE- group than in the IgE+ group (P<0.05). The remission rate of each symptom was as high as over 80% in the two groups after 16 weeks of intervention and there was no significant difference in the remission rates between the two groups (P>0.05). Conclusions IgE seropositive rate is not high in infants with CMPA. Atypical signs instead of allergic symptoms are more common in the IgE seronegative infants with CMPA. Avoiding allergy-inducing food and eating extensively hydrolyzed formulas or amino-acid formulas in early age benefit infants with IgE-mediated or non-IgE-mediated CMPA.
Objective To determine the changes in the expression of leptin and its receptor in the lungs of mice with varying degrees of asthma before and after budesonide treatment. Methods Forty Balb/c mice were randomly assigned into 4 groups with 10 animals in each. One group received no treatment (control group) and the other groups were challenged with either nebulized ovalbumin (OVA) for three days (3-day group) or seven days (7-day group), or with nebulized ovalbumin followed by budesonide administration (treatment group). Changes in airway inflammation were observed using hematoxylin-eosin staining. The protein and mRNA levels of leptin and its receptor in lung tissues were determined using immunohistochemistry/Western blot and real-time PCR, respectively. Results The two asthmatic groups showed more significant pathological changes in the airway than the control and the treatment groups. Mice that were challenged by OVA for seven days showed more marked pathological changes in the airway compared with mice challenged by OVA for three days. The protein and mRNA levels of leptin in the lung tissues of the 3-day group were significantly higher than those of the control group (P<0.01), but significantly lower than those of the 7-day group (P<0.01). The protein levels of leptin receptor in the lung tissues of the 3-day group were significantly lower than those of the control group (P<0.01). The treatment group showed increased protein levels of leptin receptor compared with the 7-day group (P<0.01). No significant difference was noted between the four groups with respect to the mRNA levels of leptin receptor in the lung tissues. Conclusions Leptin is highly expressed whereas its receptor is lowly expressed in the lung tissues of asthmatic mice. Budesonide can increase the expression of leptin receptor, but has no significant impact on the expression of leptin.
Objective To evaluate the roles of various cytokines, histone acetyltransferase (HAT) and histone deacetylase (HDAC) in the pathogenesis of bronchial asthma. Methods BALB/C mice were randomly assigned to control, untreated asthma, hormone treatment and TSA treatment groups. Bronchial asthma was induced by intraperitoneal injections and atomization inhalation of ovalbumin (OVA) in the asthma, hormone treatment and trichostatin (TSA) treatment groups. The mice in the hormone treatment and TSA treatment groups were administered with dexamethasone 1.0 mg/kg and TSA 1.0 mg/kg respectively by an intraperitoneal injection 30 minutes before challenge of asthma. At 24 hours after the last challenge, IL-4, IL-8 and IFN- levels in serum were measured using ELISA, and activities of HAT and HDAC in peripheral blood mononuclear cells (PBMC) were determined by the enzyme linked immunofluorescence assay. Results The serum levels of IL-4 and IL-8 in the untreated asthma group were higher than in the control, hormone treatment and TSA treatment groups (P<0.05). There was no difference in the serum levels of IL-4 and IL-8 among the control, hormone treatment and TSA treatment groups (P>0.05). The activity of HDAC in the untreated asthma group was lower than in the control, hormone treatment and TSA treatment groups (P<0.05). Hormone treatment significantly decreased the activity of HAT compared with the untreated asthma group (P<0.05). There was no difference in the activities of HAT and HDAC among the control, hormone treatment and TSA treatment groups (P>0.05). Conclusions The decreased activity of HDAC leads to an increased secretion of inflammatory factors and thus induces asthma.
The Janus kinase -signal transducer and activator of transcription (JAK-STAT) pathway plays pivotal roles in the regulation of cell proliferation, differentiation, migration and apoptosis, which is closely related with the development of hematopoietic cells and some hematological diseases. As an important signaling axis in JAK-STAT pathway, abnormally activated JAK2-STAT signaling is involved in the development of the hematological malignancies. JAK2V617F mutation is the important molecular pathogenesis of myeloproliferative disorders. Recent studies have demonstrated that JAK2 mutations are present in different acute leukemia subtypes and the frequency of mutations is different and that JAK2 mutations might be closely correlated with acute leukemia formation, treatment and prognosis. The pathogenic mechanism of JAK2 mutations has not been completely elucidated. JAK2 mutations might lead to JAK-STAT overactivation, resulting in the excessive proliferation, apoptosis resistance and differentiation blocking of blood cells. JAK2 inhibitors have been rapidly developed as targeted therapies for hematological disorders with JAK2 mutations. This article mainly focuses on recent studies about the role of JAK2 mutations in the pathogenesis, clinical characteristics and targeted therapies of acute leukemia.
