Objective Alport syndrome(AS) is a progressive renal disease characterized by hematuria and progressive renal failure. X-linked AS (XLAS) is the major inheritance form caused by COL4A5 gene mutations. X-inactivation has been suspected to be one of the responsible reasons for this phenomenon, but so far definite correlation is not demonstrated. It is supposed that X-inactivation patterns may vary both with age and tissue types within an individual. This study was to explore the effect of age and tissue types on X-inactivation patterns in XLAS females. Methods Females with XLAS were enrolled to compare the X-inactivation ratios between two groups(age≤30 years as group A and age>30 as group B). X-inactivation ratios were analyzed in cultured skin fibroblasts at the same time to compare the X-inactivation ratios between two tissues using HpaII predigestion of DNA followed by polymerase chain reaction (PCR) of the highly polymorphic CAG repeat of the androgen receptor (AR) gene. Results A total of 36 female cases of XLAS were divided into two groups, group A included 13 patients aged under or equal to 30 years and group B included 23 patients aged over 30 years. One patient in group A and 3 patients in group B were uninformative for the X-inactivation assay used, the rate of heterozygosity at the AR locus of the 36 female patients was 88.9%. Only 12.5%(4/32) females detected showed skewed X-inactivation in peripheral blood cells. No(0/12) individual under 30 years of age had skewed X-inactivation while 20%(4/20) individuals over 30 years of age had skewed X-inactivation in peripheral blood cells (P>0.05). The X-inactivation patterns of the 12 patients showed marked variation between blood cells and skin fibroblasts. Seven of 12 patients(58.3%) had similar X-inactivation ratios in both tissues, but the other 5 patients(41.7%) had the opposite X-inactivation patterns in both tissues. Conclusions Different tissue types instead of age may affect the X-inactivation patterns in XLAS females, this may explain the contradictory results between X-inactivation and the variable phenotype of XLAS females.
Objective To investigate the long-term outcome of pediatric ischemic stroke(IS) and influencial factors. Methods Patients who were admitted and given a discharge diagnosis of AIS from Beijng Children′s Hospital were identified . Only first admissions from January 1992 to May 1997 were recruited. By retrospective review, initial causal factors, characteristics of clinical presentations and imaging were analyzed. The patients received a series of face-to-face examinations in Beijng Children′s Hospital including questionnaire, physical examinations, activities of daily living(ADL), intelligence quotient(IQ), Fugl-Meyer assessment(MFA), magnetic resonance imaging(MRI) and magnetic resonance angiography(MRA) scans of head. Results The records of 44 children were retrieved. One child died due to underlying disease. Three children were lost to follow-up. Fifteen patients were not willing to undergo follow-up examination. At last , 25(14 males) patients were included. The mean interval between the onset and the follow-up was 12.2 years. Age at follow-up ranged from 11.3 years to 24.2 years(mean 16.3 years). ①23 children presented with hemiparesis and 2 with tetraplegia at onset. Five children presented with seizure at the time of stroke. In 10 patients, the cause of stroke remained unknown. Ischemic stroke occurred after mild head trauma in 5 patients and after infectious disorders in 5 patients. Moyamoya disease was found in 2 children. One case was with respiratory infection and head trauma. Heart disease and cerebral arteritis were found in 1 case, respectively. ②Five children with seizures at onset did not develop epilepsy during the follow-up, however, two cases without seizures at onset developed epilepsy. Recurrence was observed in 2 patients with Moyamoya disease. ③At follow-up, all of the 25 children were functionally independent with improved muscle strength and the score of FIM ranged from 108 to 126. FMA was 100 in 11patients which meant normal movement. ④The score of IQ in 7 patients was below 70. Psychological disorders, such as remembrance impairment(11 patients) , attention deficit(10 patients), inferiority(9 patients), hyperactivity(7 patients) and social phobia(7 patients) had been identified in up to 60% of the children. ⑤Basal ganglia and internal capsule infarction produced better prognosis of movement than other infarction. Patients with cryptogenic IS had better outcome of movement than others. ⑥Narrowness of cerebral vessels was lessened in 3 patients on head MRA, compared with that at onset. Conclusions Prognosis of pediatric arterial stroke was better than that of the adults. All of the children were functionally independent. About half of the children of IS presented motor or psychological disorders. There was a significant shift in cognitive function towards lower levels. Basal ganglia and internal capsule infarction produced better prognosis of motor than other infarction. Patients with cryptogenic IS had better outcome of movement than others.
Objective Despite major advances in neonatal care during the past few decades,neonatal septicemia has high mortality and morbidity.The usage of CRP has recently been proven to be useful for the diagnosis of neonatal septicemia.A meta-analysis was performed to assess the accuracy of the CRP test for diagnosing neonatal septicemia. Methods VIP, China National Knowledge Infrastructure (CNKI), Wanfang Chinese Periodical Database and Chinese Bio-medicine Database (CBM), Medline, EMBASE, Cochrane library and PubMed were searched to identify retrieve relevant studies on CRP in diagnosis of neonatal septicemia from January 1989 to July 2011.QUADAS tools were used for quality evaluation of literature by two reviewers. Meta-analysis was performed by employing MetaDisc 1.4 and Revman 5.0 software. Heterogeneity of the included articles was tested to select proper efficacy model for calculate pooled weighted sensitivity, specificity and 95%CI. Summary receiver operating characteristic (SROC) curve was made and the area under the curve (AUC) and Q index were calculated.Finally, sensitivity analysis and comparison of sensitivity among different groups were performed.Descriptive analysis was performed if meta-analysis was inappropriate. Results A total of 739 literatures were reviewed, including 430 relevant English articles and 307 Chinese articles. Twenty studies including 9 English records and 11 Chinese records met the inclusion criteria. Sensitivity and specificity of CRP test for the diagnosis of neonatal septicemia was 0.69（95%CI：0.65-0.72）and 0.87（95%CI 0.86-0.89）. The area under SROC curve was 0.88, Q index was 0.81. The pooled sensitivity , specificity, AUC and Q index for CRP＞8 mg·L-1 were 0.88（95%CI：0.82-0.92）,0.86 （95%CI：0.81-0.90），0.94 and 0.88 respectively.The pooled sensitivity, specificity, AUC and Q index for CRP≥8 mg·L-1 were 0.54（95%CI：0.47-0.61）,0.81（95%CI：0.76-0.85）,0.80 and 0.74 respectively. The pooled sensitivity, specificity ,SROC curve and Q index for CRP 8 mg·L-1 were 0.70（95%CI：0.65-0.74），0.83（95%CI：0.80-0.86）,0.88 and 0.82 respectively .CRP assay method and differences in sample sources may partially explain the heterogeneity. Conclusions CRP test as a non-invasive test is a highly accurate method for diagnosing neonatal septicemian. CRP should be combined with other diagnostic markers to further improve the sensitivity and accuracy in the diagnosis of septicemia.
Objective To evaluate the effects of tranexamic acid（TA） on hemostasis and inflammatory mediators in cardiopulmonary in infants. Methods Infants weighted less than 10 kg undergoing cardiopulmonary bypass were investigated. The infants were randomly divided into three groups: TA1 group, TA2 group and control group. In the TA1 group, patients received tranexamic acid 30 mg·kg-1 after induction of anesthesia followed by continuous infusion at the rate of 16 mg·kg-1·h-1 and 2 mg·kg-1 in the pump prime. In the TA2 group, patients received TA 30 mg·kg-1 after induction of anesthesia, 30 mg·kg-1 in pump prime and 30 mg·kg-1 after weaning of bypass. In the control group, patients received the same volume saline. Blood loss and allogenic transfusion requirements during the period from the end of operation until 24 h after admission to the CICU were recorded. D-dimer was tested at four time points: before operation, during CPB, 6 and 24 h postoperatively.Interleukin-8, CRP and WBC counting were tested at five time points: before operation, at the end of operation(0 h),6 ,12 and 24 h postoperatively. Results A total of 120 infants were recruited with 40 infants in each group. Baseline demographic data were similar among the groups. The blood loss was significantly lower in TA1 and TA2 groups than in control group within 6 h after operation（P<0.05）, but there was no significant difference in blood loss during 24 h after operation. No difference was found in allogenic transfusion units among groups. D-dimer values increased from the beginning of CPB and remained higher till 24 h postoperatively among the three groups. The values in TA1 and TA2 groups were significantly lower than in control group at three time points: during CPB, 6 and 24 h postoperatively（P<0.05）. Serum interleukin-8 level was elevated at the end of operation and remained higher until 12 h and began to drop 24 h postoperatively, however the level in control group remained greatly higher than that in TA1 and TA2 groups（P<0.01）.The serum concentration of CRP was elevated obviously in 12 h after operation, and remained significantly higher in control group in 24 h postoperatively. No difference was found in WBC counting among three groups. Perioperative data and surgical complications did not show any difference among three groups. No mortality was observed in the study. Conclusions TA effectively reduce bleeding in early 6 h postoperatively and inhibit fibrinolysis and inflammation. Continuous infusion of TA does not show significant advantage to fractional dose.
Objective To investigate the influences of the three seasons (i.e., spring, summer and autumn) on the neuropsychological development of children aged 3-66 months living in Shanghai, using the developmental screening scales, the standard Chinese translated Ages & Stages Questionnaires(ASQ-C): A Parent-Completed Child Monitoring System. Methods During the three seasons, using a stratified clustering, random sampling method, children aged 3-66 months were recruited. Parents/caregivers of a total of 8 472 children completed age-appropriate ASQ-C. The statistical software of SPSS 13.0 was used for data analysis. Means and standard deviations of the children′s ASQ-C total and domain scores including communication(CM), gross motion(GM), fine motion(FM)，problem solving(CG), and personal-social (PS), by seasons were calculated. One-way ANOVA was chosen for multiple comparisons of sample means. The SNK method was used for pairwise comparison and a difference was deemed statistically significant when P<0.05. Multiple linear regression was used to control for confounders. Results The children′s total ASQ-C scores varied significantly by season (P<0.01) in the sequence of autumn, summer and spring. The pairwise comparison showed that the children had higher ASQ scores in autumn than in both summer and spring (P<0.05) with non-significant difference between the scores in summer and spring. The total scores in each of the five developmental areas also varied significantly by season (P<0.01 or 0.05). Scores were the highest in autumn for all areas. For the CM area, children′ scores were the highest in autumn, followed by spring and summer, while for the other four developmental areas, the sequence of seasons was autumn, summer and spring. The pairwise comparisons showed that children in autumn had much higher CM scores than in summer with no significant difference in CM scores between summer and spring, or between spring and summer. While for all the other four areas (i.e., GM, FM, CG and PS), scores in autumn were higher than in summer and spring(P<0.05). Moreover, GM scores in summer were much higher than those in spring (P<0.05). Conclusions Seasons had an influence on the assessment on young children′s development. Reasonable design for further studies on the relations between seasons or climate and the development of children is needed. It is suggested that seasonal influence should be considered when children′s developmental scale is researched.
Objective To analyze the clinical characteristics and the diagnostic methods of Kearns-Sayre syndrome(KSS) in children. Methods The clinical features including clinical manifestations, neurologic signs, cranial MRI, laboratory tests, common point mutations of the mtDNA and muscular pathology in 8 patients with KSS were retrospectively analyzed and the cases were followed-up. ResultsT here were six males and two females in this study. The ages of onset ranged from 5 years 3 months to 13 years with the average age being 9 years 5 months. The disease course was from 1 month to 3 years with an average age of 1.5 years. Eight cases had ptosis in whom five had ptosis as the first symptom and four had both eyes affected at the same time. Two cases had ataxia as the first symptom, one of which had intelligence retrogression as the first symptom and three cases had double eyelid ptosis 1 month to 2.5 years after the onset. Two cases had diabetes mellitus and one case had Person syndrome before. All of 8 cases had ocular motor abnormalities and short stature in whom the height and weight were the tenth centile below the normal children of the same age. Six cases were found retinal pigmentary by ocular fundus examination. One case had no retinal pigmentary degeneration until 5 years in follow-up visit. All the cases had no optic atrophy. Six cases had cerebellar ataxia. Five cases had cardiac conduction block. Three cases were with complete or incomplete right bundle branch block at admission and developed to third-degree atrioventricular block from 1 year 7 months to 4 years respectively and died in follow-up visit. Two cases without cardiac conduction block when hospitalized were found to have first-degree atrioventricular block in 4 or 5 years follow-up. Six cases were found cerebrospinal fluid protein increased( ＞1 000 mg·L-1). In seven cases with urine amino acid/organic acid analysis，four were normal, three were with ketonuria. No mutation was found in mtDNA A3243G,A8344G,T8993G,T8993C,A1555G,G11778A screening. Eight cases with MRI examination showed a bilaterally symmetrical hypointense on T1 weighted image,hyperintense on T2 and high flair signal in white matter, mainly in the subcortical white-matter of frontal and parietal lobe and cerebellum white-matter. In two cases, splenium of corpus callosum was affected. In one case, posterior limb of internal capsule was affected. In six cases, brain stem was affected, mainly in deutocerebrum and dorsal part of pontine tegmentum. Thalamus was affected in three cases and basal ganglia was affected in four cases. Six cases of muscle pathology who accepted histochemical examination revealed RRFs. Eight cases were observed under the electronmicroscope subsarcolemmal accumulation of mitochondria and morphologic abnormalities of mitochondria. By using southern blot analysis, in the samples of muscle large fragment mtDNA deletion of 6 kb was existed in one case. In 6 cases followed-up from 2 to 5 years, three patients died and three patients′ course was slowly aggravatin. Conclusions KSS is rare in children. Clinical findings consist of bilateral ptosis, ophthalmoplegia, pigmentary retinopathy, cerebellar ataxia and cardiac conduction block. Clinical diagnosis can be made according to the clinical manifestation and muscle biopsy, and mtDNA deletion in muscle samples can confirm the diagnosis.
Methods Patients diagnosed as MS were collected from May 1998 to March 2011, re-evaluated with 2005 McDonald diagnostic criteria for MS. The data of clinical manifestation, laboratory examination, iconography and following-up were analyzed. Results A total of 33 final diagnosed cases were recruited into the study, 17 males and 16 females. Age of onset ranged from 2.3 to 14.8 years, with 26 patients before 10 years. ① 9/33（27.3%）cases presented as acute encephalopathy at onset. Combining the clinical manifestation of first episode and relapse, visual disorder was seen in 26 cases(78.8%), seizure in 16 cases(48.5%), symptoms of myelitis in 12 cases(36.4%). ②9 cases were accompanied by epilepsy(27.3%), with 4 being partial and 5 general; 5 cases appeared at first episode, 4 cases appeared at relapse. ③CSF was examined in 28/33 cases. WBC and/or protein levels were elevated in 13/28（46.4%） cases, oligoclonal bands were positive in 13/28 cases(46.4%). ④Lesions on MRI were seen frequently in subcortex white matter which located in frontal, parietal, and temporal lobe(22/31, 71.0%)，brainstem(14/31,45.2%) and periventricular white matter（9/31，29.0%）. Abnormal EEG was seen in 24/30(80.0%) cases. ⑤All cases were treated with glucocorticoids. Clinical symptoms were improved in different degrees among 11 cases treated with combination of IVIG. ⑥ After a 4 months to 10 years(average 4.5years) follow-up, 26(78.8%) experienced a relapsing-remitting phase of disease. Time of first relapse was ≤3 months in 15 cases(57.7%), 3 of them died. MRI was rechecked in 22 out of 26 cases，new or enlarged lesions were seen in 20 cases(90.9%), diminished in 2 cases. Conclusions The proportion of onset age before 10 years was higher in pediatric MS. First episode may present as acute encephalopathy, visual disorder or, seizur. Symptoms of myelitis were common. MRI lesions are seen frequently in subcortex white matter. Most patients experienced a relapsing-remittin phase of disease and relapsed before 6 months.
Objective To analyze the clinical characteristics and nutriture in gastroscope inspection in 406 children and adolescents diagnosed as digestive diseases. Methods Medical histories and the results of gastroscope inspection were collected in the endoscopy center, Children′s Hospital of Chongqing Medical University from August 2010 to January 2011. The questionnaire investigation was performed. The heights and weights of the children and adolescents were measured by the nurses. The symptoms and results of gastroscope inspection and the nutrition condition of the children diagnosed as digestive diseases were evaluated according to child growth standard made by WHO in 2007. Results A total of 431 children were taken gastroscope inspection, among them 25 children were without complete medical histories. Finally 406 children (94.2%) were enrolled including 313 children aged 6 to 12 years and 93 children aged 13-18 years. ①Chronic recurrent abdominal pain was as the chief complaint in 244 cases with duration over 1 year, 59 cases presented as acute abdominal pain, 40 cases as early satiety after eating and loss of appetite, 15 cases as vomiting after eating and nausea at onset. ② The results of gastroscope inspection were abnormal in 389/406 patients (95.8%), of them 73.3% showed chronic gastritis, 20.1% of duodenum, 2.8% of esophagus and 2.1% of acute gastric mucosal lesions were found. ③BMI of 389 cases with abnormal gastroscopy showed a skewed distribution. Gastric lesions, duodenal lesions and esophageal lesions in children with BMI
Objective To study the characteristics and diagnosis of autosomal dominant Emery-Dreifuss muscular dystrophy. Methods The clinical characteristics, diagnosis procedures and histopathological studies of a case with autosomal dominant Emery-Dreifuss muscular dystrophy were analyzed, and genetic analysis was used in the diagnosis of the illness, and the case was reported along with related literature review. Results The patient was a 12 years old girl who showed progressive proximal weakness of all four limbs, rigid spine, remarkable bilateral contractures of Achilles tendons and elbow, as well as slightly increased serum muscle enzymes. Electromyography indicated myogenic change and normal nerve conduction velocities. The pathological changes in muscles showed that the sizes of muscle fibers were different, fiber atrophy and hypertrophy alternately existed, compensatory hypertrophy of partial muscle fibers existed and fat and connective tissue proliferations were apparent. Sequencing of all 12 coding exons of the LMNA gene revealed a c.746G>A mutation in exon 4, in heterozygous state. It was a missense mutation and resulted in an amino-acid change, p.Arg249Gln. Conclusions Currently, genetic analysis is a reliable method to confirm the diagnosis of autosomal dominant Emery-Dreifuss muscular dystrophy. This article suggests genetic analysis of the LMNA gene in a patient presenting with progressive, bilateral muscle weakness, and early contractures of the elbows. Achilles tendons or rigid spine may be valuable to the early diagnosis of the disease.
