Objective To screen for genomic copy number variants (CNVs) in three independent neonates with 5p partial monosomy using SNP array, identify the relationship between rare CNVs and related phenotypes. Methods Genomic CNVs were dected in the 3 individuals by using cytogenetic whole-genome 2.7M array. Rare CNVs with potential clinical significance were selected for screening the occurence of deletion and its size in region of 50 kb and duplication region that over 150 kb in chromosome 5 p based on the analysis of ChAs software. Postive CNVs and segment of normal reference populatino were excluded. The identified CNVs were analyzed with the references from CNVs database and published literatures. Results Eleven rare CNVs (12.9%) sized from 66-31 328 kb were identified in the 3 neonates. The deletion region and size were 5p15.33-p13.3 and 31 866 kb for case 1, 5p15.33-p15.1 and 15 552 kb for case 2, 5p15.33-p14.3 and 19 312 kb for case 3. Additional duplication ons 9p24.3 -p21.1 were found in case 2 and 7p22.3-p22.2 were found in case 3. Analysis of the association between phenotype and genotype of 3 cases and 5 patients in database suggested that the overlapping region of abnormal cry and voice was located within a 3.86 Mb region on 5p15.33-p15.31 and contained IRX1 and IRX2 genes. The overlapping region of facial dysmorphology was located within a 2.51 Mb region on 5p15.2-p15.1 and contained ANKH gene. Case 3 has Hirschsprung's disease. Conclusions The study established the methology to discover whole genome CNVs in identifying novel submicroscopic deletions and duplications that can not be detected using G-banding cytogenetic technology, allowing an early diagnosis of affected individuals especially neonates without characteristic symptoms. The results allow us to refine the genotype-phenotype correlations for abnormal cry and voice, facial dysmorphology in 5p partial monosomy.
Objective To construct centile curves and cutoff points of body mass index (BMI) for overweight and obesity screening among Kazak children aged 7 to 18 years in Xinjiang, China. Methods The cross-sectional study was conducted in urban and rural areas of Altai city, using random cluster sampling to select 4 schools (a total of 49 classes). Enrolled students who agreed to take part in the study were investigated for demographic and anthropometric data. The BMI centile curves for Kazak children aged 7-18 years were constructed by λ-median-coefficient of variation method. Based on BMI cutoff points for adult overweight and obesity recommended by IOTF and WGOC, the centile curves passing through 25 and 30 kg·m-2, 24 and 28 kg·m-2 at age 18 were identified as overweight and obesity cutoff curves for Kazak children, by which the cutoffs of BMI for each age were computed. Results Overall 2 487 students, including 1 158 boys and 1 329 girls were investigated. The cutoff curves for identifying overweight and obesity were P88.63 and P98.28 for boys, and P84.41 and P98.12 for girls based on WGOC cutoffs of adults' BMI, and were P92.96 and P99.28 for boys, P90.53 and P99.38 for girls based on IOTF cutoffs. The cutoff curves for Kazak children differed from that recommended by IOTF and WGOC, as well as differed from cutoff curves for Han and Ugyur children recommended by our earlier studies. The cutoff curves for overweight and obesity for Kazak girls were lower than that of Ugyurs' and Hans' but increased quickly and exceeded Ugyur curves and reached Han curves around age of 14. ConclusionsN orms of BMI for screening overweight and obesity in Kazak school-aged children differ from that recommended by IOTF and WGOC, and appear ethnic difference. For Kazak students, the cutoffs of BMI proposed by this study for screening overweight and obesity are recommended.
Objective To investigate the growth of auricle and eye in children and adolescents,and to establish the data of normal ear and eye growth. Methods Singleton newborns whose gestational age was from 37 to 40 weeks and birth weight was >2 500 g from the First Affiliated Hospital of Chongqing Medical University, healthy children aged 1 month to 12 years attending physical examinations in Children's Hospital of Chongqing Medical University and adolescents aged 18 years from Chongqing Pharmaceutical College were included. Enrolled participants were classified into neonate, 1 month, 3 months, 6 months, 9 months, 1 year, 2 years, 3 years, 6 years, 12 years and 18 years groups with 200 participants (half were boys and half were girls) in each group. Ear length, ear width, inter canthal distance (ICD) and outer canthal distance (OCD) were measured and recorded, ear index and palpebral fissure length (PFL) were calculated according to ear length, ear width, ICD and OCD. The growth of auricle and eye distance and differences between genders were analyzed. Normal reference values of auricle and eye distance were established. Results ①Ear length and ear width were increased with age. The average ear length in 1 year group was longer than that in neonate group by 1.3 cm. Ear length of the 2-12-year group grew slowly, by averagely 0.15 cm per year. In the 12-year group, ear length grew up to 93% of that in 18 years group. The average ear width in 1 year group was wider than that in neonate group by 0.5 cm. Ear width had no significant change in children older than 6 years. Ear length and ear width in boys were all longer than that in girls in each group. The average ear index was decreased with age. ②ICD and OCD were increased with age. The average ICD, OCD and PFL in 1 year group were 0.5 cm, 1.6 cm and 0.6 cm longer than that in neonate group, respectively. ICD, OCD and PFL in children older than 1 year grew slowly. There was no significant difference in ICD, OCD and PFL in each group between genders. Conclusions Ear development, ICD and OCD were increased with age, but tended to stop growing from 6 to 18 years old. There was gender difference in ear development but not in canthal distance.
Objective To evaluate the efficacy and safety of leflunomide in treating lupus nephritis(LN). Methods According to the requirements of meta-analysis, a literature search about efficacy and safety of leflunomide therapy in LN was performed among Cochrane clinical controlled trials database, PubMed, BMJ-Clinical Evidence, CNKI, VIP and Wanfang data from the establishment of the database till December 2010. All included RCTs were graded in term of randomization, allocation concealment and blinding and non-RCTs were graded in term of grouping method, blinding, withdrawal and loss of follow-up, baseline comparability, diagnostic criteria and bias control. RevMan 5.0 software was used for meta-analysis. Results A total of 828 literatures were included. Five RCTs and 2 non-RCTs were enrolled for meta-analysis. Four RCTs described the method of random allocation, 1 literature used double blind method. Five RCTs were all lack of information about allocation concealment, selectively reporting and other bias, but reported withdrawal and loss of subjects. Two non-RCTs were lack of grouping method and blinding, but reported withdrawal and loss of subjects, also used established diagnostic criteria. Leflunomide group was treated with leflunomide and glucocorticoid, while control group was given cyclophosphamide and glucocorticoid or placebo.①There was no significant difference in complete remission rate(OR=1.51, 95%CI:0.90-2.54) , partial remission rate(OR=1.06, 95%CI:0.70-1.61) or overall remission(OR=163, 95%CI:0.98-2.71) between leflunomide group and cyclophosphamide group. ②The 24 h urine protein, SCr and SLEDAI scores of leflunomide group were significantly lower than that of cyclophosphamide group. There was no significant difference in C3, positive rate of anti-ds DNA between leflunomide group and cyclophosphamide group.③There was no significant difference in infection, herpes zoster, hypertension, palpitations, leukopenia, alopecial, elevation in ALT, memoxenia, rashes, or the incidence of gastrointestinal reactions between the two groups. Conclusions Based on the current evidence, the efficacy and safety of leflunomide for treatment of LN are close to cyclophosphamide. Further evidence from RCT studies is needed to elucidate the efficacy and safety of leflunomide for LN.
Objective To evaluate the safety of fosinopril treatment for chronic kidney disease (CKD) in children. Methods Cases with peadiatric CKD (SRNS and IgA nephropathy) whose proteinuria (DPL) was over 50 mg·kg-1·d-1 were recruited from February, 2008 to August, 2009 in Guangzhou Children's Hospital. Subjects were divided into middle dose treatment group(group1), lower dose treatment group(group 2), and control group (group 3).Group 1 was treated with basic therapies combined with 0.3 mg·kg-1·d-1 Fos; Group 2 was treated with basic therapies combined with 0.1 mg·kg-1·d-1 Fos; Group 3 was treated with basic therapies, respectively. Basic therapies were defined as prednisone oral administration combined with large-dose medrol ictus treatment. The patients were recorded regularly for DPL,potassium, Scr, Ccr, blood pressure,liver funtion and blood cell count at 0,2,4,8,12,16,20,24 week, then the data were analyzed by conventional methods. When adverse effect occurred, Fos treatment was stopped. Results After treatment, mean arterial pressure levels of middle dose group and low dose group decreased obviously compared with that before treatment(P<0.05). Compared with control group, the mean arterial pressure levels of group 1 and group 2 differed from each other significantly(P<0.05). The patients treated with Fos were divided into hypertension and normal blood presure groups at the start of the study. At ending point the mean arterial pressure dropped significantly from (73.9±2.8) mmHg to (79.7± 8.4) mmHg in hypertension group(P< 0.05), and the normal blood pressure group did not change obviously(P＞0.05). The potassium and SCr levels of groups 1 and 2 with fosinopril treatment were still normal at the end of study, whereas potassium levels of the two groups were elevated significantly than before treatment. SCr levels of group 1 was higher than the control group(P<0.05) at the second week. Although the elevation of the CCr level appeared in the first two weeks, the difference was not statistically significant between pre-treatment and after treatment(P＞0.05).During the study, the blood cell and liver function remained stable,and no case appeared cough and angioedema etc. Conclusions 0.3 mg·kg-1·d-1 fosinopril is safe and tolerable treatment for children with CKD.
Objective To study the feature of treatment, pathology and follow-up in children with primary nephrotic syndrome (PNS). Methods Children with PNS hospitalized in Department of Nephrology of Hunan Children's Hospital from January 2005 to December 2009 who had been followed-up longer than 6 months were included. PNS patients were grouped into <2 years, -5 years, -10 years and >10 years groups according to age. The information of treatment, renal pathological lesion and follow-up data in children with PNS were analyzed. Results Five hundred and thirty-nine children (including 402 boys and 137 girls) with PNS were investigated in the study. The ratio of boys to girls was 2.9. Among them, 159 (29.5%) were under 2 years of age, 269 (49.9%) aged 2-5 years, 84(15.6%) aged 5-10 years, and 27(5.0%) aged over 10 years. ①Among them 274(50.8%) patients showed minimal change disease, 79 (14.7%) patients showed focal segment glomerulosclerosis, 173(32.1%) patients showed mesangioproliferative glomerulonephritis, 6(1.1%) patients showed membranoproliferative glomerulonephritis, and 7(1.3%) patients showed others's pathologic lesion. The proportional distribution of pathologic lesion type in kidney among 4 groups (＜2 years, -5 years, -10 years and ＞10 years) was signifiantly different (P＜0.05). ②The major pathology pattern of children with steroid sensitive and resistant PNS was minimal change disease (62.4% and 69.6%, respectively). The major pathology pattern of children with steroid dependant PNS was mesangioproliferative glomerulonephritis（48.4%）. ③239/539 patients were with complete remission, 75 with partial remission, 61 invalid, 158 with symptomatic control, urine protein (-), but still taking prednisone. Six cases died due to glucocorticoid resistance with severe infection or progression to end-stage renal disease to give up medical treatment. Conclusions In recent years, the age of onset, sex, pathologic lesion type and response to steroid therapy of children with PNS may change, and there existed significant differences in patients with different ages.
Objective To describe the ponderal index (PI) growth patterns of Chinese children younger than 7 years old and establish the standardized PI growth curves for infants younger than 2 years old. Methods Weight and height measurements came from the National Growth Survey of Children under 7 years of age in the Nine Cities of China (NGSCNCC) in 2005, and PI was calculated as weight/(height3) (kg·m-3). The database of PI was established. The PI characteristics in the empirical percentiles (P3, P50 and P97) were analyzed and the differences on PI were compared between genders, urban-rural areas and ages. The PI growth curves were constructed based on urban children younger than 3 years old from the 2005 NGSCNCC using the Cole's LMS method for fitting. The LMS Pro software was employed and the parameters for this study were as follows: degree of freedom in boys was LMS = 3-11-6, POWER = 0.05 and OFSET = 0.10; in girls LMS = 3-11-4, POWER = 0.05 and OFSET = 0.15. Results A total of 138 775 children aged 0 to 7 years were enrolled, including 69 760 in urban area(34 901 boys and 34 859 girls) and 69 015 in rural area(34 650 boys and 34 365 girls). There were 1 496 to 1 666 children in each age group. PI rised with age increased, reached the peak at 2-3 months of age, then rapidly declined and decreased slowly at preschool age in urban-rural areas. For example, PI of boys in urban area at birth was 26.03, reached the peak 28.29 at 2-3 months of age, then declined to 17.38 at 2-2.5 years of age, decreased to 12.99 at 6-7 years of age. Overall, there was no significant difference between sexes or urban-rural areas,but at 1 month to 3 years of age PI was slightly higher in boys than that in girls, at 1-6 months and 2-3 years of age PI was slightly higher in rural than in urban children. PI growth curves were given for Chinese children aged 0 to 2 years by two forms, percentiles and standard deviation scores including 23 703 boys(excluded 18 boys) and 23 625 girls(excluded 17 girls). Conclusions The study described the PI growth patterns of Chinese children and established the standardized PI growth curves which may provide a scientific basis for clinical practice and further explorations on the related issues in this field.
Objective To assess the efficacy and safety of glucocorticoids treatment for meconium aspiration syndrome (MAS). Methods Besides manually searching, PubMed, MEDLINE, EMBASE, EBSCOhost, the Cochrane Library, the Cochrane Central Register of Controlled Trials (CENTRAL), Ovid, Chinese Biological Medical Literature Database (CBM), Wanfang Chinese Periodical Datase and VIP Chinese Periodical Database were electronically searched from the establsihment of the database till December 2010. All randomized controlled trials (RCTs) about glucocorticoid treatment initiated within postnatal 48 hours in MAS newborns were eligible. Standard methods of the Cochrane Collaboration were employed to evaluate the methodological quality of the trials. Meta-analysis was performed with RevMan 5023 software, and proper effective model was used according to heterogeneity of the included studies. Descriptive analysis was utilized if meta-analysis was inappropriate. Results A total of 1 012 literatures were reviewed. Five RCTs enrolled with 295 participants were eligible for this meta-analysis, among them 1 trial was in low risk of bias, 3 were moderate and 1 was in high risk of bias. Meta-analysis showed that glucocorticoid treatment significantly decreased the hospital stays (MD=-5.42，95%CI: -7.38 to -3.45，P＜0.000 1) and the incidence of sepsis（OR=0.33，95%CI: 0.12 to 0.78，P=0.01）. Meta-analysis in subgroups indicated that budesonide inhalation decreased significantly the hospital stays（MD=-6.11，95%CI：-8.88 to -3.34，P＜0000 1) , the duration of respiratory distress （SMD=-1.56，95%CI：-2.12 to -1.00，P＜0.000 01), the duration of oxygen therapy （SMD=-1.22，95%CI：-1.96 to -0.48，P=0.001) and the incidence of sepsis ( OR=0.25，95%CI: 0.07 to 0.95，P=0.04）. None of glucocorticoid therapies significantly influenced the mortality during hospitalization, duration of chest X-ray clearance, or incidence of oral thrush, superficial fungal infection or meningitis. Descriptive analysis indicated that the glucocorticoids had no effect on the incidence of persistent pulmonary hypertension newborn, air leak, hyperglycemia, hypertension, chronic lung disease (CLD), delayed growth or development. Conclusions Budesonide suspension inhalation initiating within 48 hours postnatal in MAS newborns can significantly shorten hospital stays, duration of respiratory distress and oxygen therapy. Glucocorticoid treatment neither improves the final outcome of MAS newborns, nor increases the incidence of secondary infection.
Methods Children's anthropometric measurements including head circumference, length(height), crown-rump length(sitting-height) and chest circumference were analyzed. Two primary health care nurses obtained the four measurements twice using conventional methods in clinic and they were masked each others' measurements.Children were grouped into younger than one year old, one to three years old and older than three years old.The interexaminer mean absolute differences(MAD), technical error of measurements (TEM), coefficient of reliability(R) and intraclass correlation of coefficients (ICC) were calculated. Results Five hundred and forty-nine children aged 0 to 12 years were enrolled.The total MAD for head circumference, length (height), crown-rump length (sitting-height) and chest circumference were 0.17, 0.35, 0.49 and 0.64 cm, respectively. The TEMs were 0.16, 0.34, 0.46 and 0.59 cm, respectively. The total R was 1.00, and ICC ranged 0.95-1.00. The MADs for head circumference and chest circumference were not significantly different among age groups. There was significant difference in MAD of length (height) between younger than one year old and older than three years old groups. There was significant difference in MAD of crown-rump length (sitting-height) between younger than 1 year old group and 3 years old group and older than 3 years old group. Conclusions These findings indicated that the anthropometric data collected by child primary health care nurses were under good in quality control. These findings also suggested that head circumference was the most reliable measurement, followed by length (height), whereas chest circumference was the least reliable measurement. In order to obtain more reliable anthropometric data, it is important to use the standard anthropometric equipments and measurement methods, to employ experienced anthropometrists in clinical works.
Objective To analyze the change of growth and development, physical fitness, and prevalence of obesity among school-age children in Beijing from1985 to 2005, and to analyze the current attack rate of obesity related chronic diseases. Methods The data used for analyzing were from the Beijing Statistical Yearbook 2010 ,Physical Fitness and Health Surveillance of Chinese School Students 1985- 2005, Beijing Children and Adolescents Metabolic Syndrome Study and survey of the prevalence of high blood pressure among school-age children in Beijing. Height, weight and chest circumference were used to reflect the growth and development of physique; Vital capacity, speed of 50 m run and vital capacity to weight ratio were used evaluate the physical fitness. The change of growth and development, physical fitness and prevalence of obesity among school-age children were analyzed in Beijing from 1985 to 2005. Results ①The increase speed of weight was much higher than that of height , and the increase speed of chest circumference was slightly higher than that of weight in both boys and girls. BMI showed a continuous increasing trend. No matter boys or girls, every 5 years' average increase speed of height, weight and chest circumference among rural students was higher than that among urban students, and the increase speed in boys was higher than in girls. There was no significant difference in the increase of BMI between urban and rural students. ②The annual average growth rate of GDP per capita was 140% ,and the prevalence of obesity among school-age children in boys and girls was 0.7% and 0.6%, respectively. In 2010,the prevalence of obesity in boys and girls was 17.1% and 11.9%.The annual average growth rate of prevalence of obesity in boys and girls was 13.2% and 12.2%.③The vital capacities of boys under 13 years of age and girls under 12 years of age in 2005 were similar with those in 2000, and then decreased , especially in girls elder than 12 years old. In both gender, the vital capacity to weight ratio decreased dramatically in 2005 than in 2000. The shortened trend displayed in time consume of 50 m run from 1985 to 1995 and prolonged trend replaced that from 1995 to 2005. Conclusions With the rapid increase of real GDP per capita in Beijing from 1985-2005, the growth and development of school-age children increased rapidly, with a downward trend in physical fitness. Prevalence of obesity and obesity related chronic diseases was high in school-age children in Beijing.
Objective To summarize the epidemiology and clinical features of children clinically diagnosed as scrub typhus in Fuyang, China. Methods Children younger than 14 years old whose the first diagnosis was scrub typhus hospitalized in the People's Hospital of Jieshou and Maternal and Child Care Hospital of Fuyang from January 2009 to December 2010 were retrospectively investigated. Epidemiological characteristics including residence (urban and rural areas), incidence of the month, history of field excursions, age at diagnosis, gender as well as clinical features including high fever, typical ulcer or eschar, lymph nodes and other symptoms and signs of impairment were collected. Results Forty-five children clinically diagnosed as scrub typhus were enrolled since Petri test and Rickettsia test could not be taken in the two hospitals. 41 were transfered from countryside. ①Thirty children were boys and 15 were girls. Sixteen children aged 9 months to 3 years, 21 aged -7 years, 8 aged -13 years. Three children lived in urban areas and 42 lived in rural areas. All patients had history of exposure to the wild stalk and straw. ②Forty-five patients had high fever (30 remittent fever and continued fever), typical ulcer or eschar mainly distributed in perineum and groin and lymph nodes (28 patients with superficial lymph nodes). Forty-four patients had rashes, 8 out of which had systemic rashes. ③Forty-five patients had hepatomegaly, 6 with splenomegaly, 13 with cough and 28 with headache. Liver function of 45 patients were abnormal, activity of enzymes elevated in 26 patients and lactate dehydrogenase increased in 26 patients. ④In the first 24 h after admission, 26 patients (57.7%) were misdiagnosed, of them 13 patients were misdiagnosed as respiratory infection. ⑤All patients were treated with azithromycin and dexamethasone, fever was reduced and recovered within 72 h after treatment. No patient recurred. Conclusions Children with scrub typhus have typical clinical features, especially characterized as hepatomegaly and abnormal liver function, which can be complicated with multiple organ damages.
Objective To study the effects of hypothermia on the proliferation and apoptosis of hippocampal astrocytes in hypoxic-ischemic neonatal rat brain. Methods In vitro: hippocampal slices were prepared from 3-day-old neonatal rat pups and cultured using transwell plate for 4 days prior to experimentation. Tissues were randomly divided into normothermia (37℃) and hypothermia (33℃, 24 h) groups after oxygen-glucose deprivation (OGD). The proliferation of hippocampal astrocytes was detected by immunofluorescence staining. In vivo: 7-day-old rats were subjected to left carotid artery ligation and followed by 8%O2 + 92%N2 for 2 h. Animals were randomly divided into hypothermia group (rectal temperature 32-33 ℃ for 24 h) and normothermia group (36-37 ℃ for 24 h). The proliferation and apoptosis of hippocampal astrocytes were detected by immunofluorescence staining. Results In vitro: the number of astrocytes significantly increased after OGD. However, hypothermia decreased the number of astrocytes. There was a significant difference between hypothermia group and control group (P<0.01). In vivo:compared with control group, the number of astrocytes of hypothermia group significantly decreased (P<005), consistent with in vitro study. GFAP and caspase-3 using double labelling methods, it was found that hypothermia could decrease the apoptosis of astrocytes after hypoxic-ischemic brain injury. Conclusions Hypothermia can decrease the proliferation and apoptosis of hippocampal astrocytes in the neonatal rat brain after hypoxic-ischemic injury.
[Abstract] Objective: To study the clinical and pathological features ，diagnosis, and differential diagnosis of interdigitating dendritic cell sarcoma，Methods: The clinical and pathological characteristics of one case with interdigitating dendritic cell sarcoma were investigated. A review of related literature was also done.Results: The patient was a 21-month-old boy with generalized lymphadenopathy and hepatosplenomegaly Microscopically, the lymph node structure was destroyed. the tumor composed of much megacell ， positive for S-100, Vimentin, , Ki-67（30%）and partly CD68 ( + ). He was treated according to a protocal composed of Pred, VDSandMTX. Partial remission was achieved. Conclusion : IDCS was a rare malignant tumor involved in multiple organs. Approximately half of the patients die of the disease，The treatment remain should be further studied.
