Objective To explore the clinical features,diagnosi s and prognosis of incontinentia pigmenti.Methods Analyzing and summarizing the clinical characteristic, diagnosis and prognosis of neonatal incontinentia pigmenti in 6 neonatal infants that were hospita- lized in our department during the period from January 1 998 to December 2003 were studied,and some relevant literature were reviewed. Results 1.Three of 6 infants were male which was unusual;2.Four infants had typical skin lesions at birth and 1 case at 6 days old.Four cases had typical 3 stages o f skin lesions including the erythematous and vesicular inflammatory stage,verr ucous lesions and hyperkeratosis stage,macular hyperpigmentation stage,but the re was overlap;3.Four infants were complicated by central nervous system involv ement (two cases presented mental retardation,2 infants were temporary damage). Two cases were complicated by ocular manifestations ( one case had optical nerve atrophy and blind in left eye,the other had severe bilateral retinal lesions); 4.On specific examination 5 infants were diagnosed by skin biopsy.Gene analysis was made in 1 case,but we didn′t find the mutations of NEMO. Conclusions Incontinentia pigmenti is a rare X-linked dominant multisystem disease.It may be misdiagnosed in the initial stages.Except typical clinical features,skin biops y and gene analysis are main evidence for diagnosis.Early detection and interven tion are important for prognosis. J Appl Clin Pediatr,2005,20(2):123-125

Objective To improve the recognition of intramedullary spinal abscess by a case of congenital dermal sinus with intramedullary spinal abscess and reduco the incidence of congenital dermal sinus with intramedullary spinal abscess.Methods Clinical,laboratory data and image of a confirmed case about one infant of congenital dermal sinus with multiple intramedullary spinal abscess were investigated,the related literature was reviewed.Results In this case,when the infant with congential dermal sinus had infection,he failed to gain antibiotic therapy, timely surgical treatment,his infection had diffused, and multiple intramedullary spinal abscess flared up.Conclusions Intramedullary spinal abscess is a rare disease.If treatment is delayed, the prognosis is poor and the mortality rate is high.MRI is the ideal investigation for diagnosis.Intramedullary spinal abscess can happen subsequent to congenital dermal sinus with infection, and cause neurological sequela. So an infant with congenital dermal sinus should be offered to avoid complication caused by infection.

A strain of P. Aeruginosa,which was seperated from clinical environment,shows a special characteristic. It keeps normal short rod shape when cultured at 37℃, however,it forms filament without pyocyanin producing when cultured at 25℃ overnight. The filaments will divide and form short rods, simultaneously, produce pyocyanin when culture time is prolonged to over 72h or culture temperature is raised to 37℃. The preliminary study indicates that this phenomenin has nothing to do with nutritive conditions and could the inbluenced by inoculating density and irradiating with ultraviolet rays The absence of pyocyanin was not the cause of filamentous formation by the test results.

Objective To explore the effects of recombinant human hormone(rhGH) on the plasma total protein,plasma albmin,healing of Wound surfaces in patients with the second degree burns wound.Methods 38 pa- tients with the second degree burns wound were divided into treatment group and control group randomly.All the patients were subject general.19 patients in the treatment group were given rhGH in a dose of 0.2U/kg for 14 days beginning from postoperative 5 days.The plasma total protein concentration,plasma albumin concentration,healing rat of wound surface and scar of patients of the two group were compared.Results The plasma total protein concen- tration plasma albumin concentration of the treatment group were significantly in creased,the scar hyperplasia of the treatment group were significantly mitigated and the healing time of wound surfaces of the treatment group were sig- nificantly shortened.Conclusion rhGH is found to promote protein anabotism and shorten the healing time of wound surfaces and mitigate the scar hyperplasia patients with the second degree burns wound.

Objective To investigate the role and the mechanism of NgR (310)ecto-Fc in experimental allergic encephalomyelitis (EAE). Methods EAE models were successfully induced in 90 Lewis rats and equally randomized into group A (without treatment), group B (giving NgR(310)ecto-Fc treatment 1 d after the success of model making) and group C (giving NgR(310)ecto-Fc treatment right after onset of the disease). The clinical scores, pathological changes of the animals were observed and compared before and after treatment. Changes of NgR expression and counts of NgR(310)ecto-Fc positive cells in the myeloid tissue were tested by immunohistochemistry before and after treatment.Results Clinical scores in group B (3.020±1.017, 1.365±0.127) and group C (2.853±0.958, 1.275±0.092) were significantly lower than those in group A (4.476± 1.525, 1.894+0.135) on the 15th and 25th d of success of model making (P＜0.05), while no significant differences on the clinical scores were noted between group B and group C. NgR expression was observed in the myeloid tissue of all groups; the counts of NgR(310)ecto-Fc positive cells in the myeloid tissue in group B (79.07± 10.31, 45.89±4.77) and group C (70.47±7.40, 40.63±4.15) were obviously decreased as compared with those in group A (101.12±11.97, 62.95±7.11) on the 15th and 25th d of success of model making (P＜0.05); while no significant differences on the counts of NgR (310)ecto-Fc positive cells were noted between group B and group C (P＞0.05). Conclusion NgR (310)ecto-Fc can alleviate the clinical symptoms of EAE by suppressing the expression of NgR, leading to no activation of myelin-related inhibitory factor (Nogo-A, MAG and OMgp), and inducing the growth of axons in EAE.

Objective To assess the inlfuence of depth on liver stiffness measurement with real-time shear wave elastography (SWE) and determine the optimal depth for SWE in liver. Methods SWE of liver was performed on 89 healthy volunteers between May 2012 and November 2012. The depths of each liver were varied from 0 cm to 7 cm (from the liver capsule) in 1 cm increment and there were 8 depth groups in total. Then the elastic modulus of liver in each depth group were measured three times by SWE. The body mass index (BMI) and the distance from body surface to liver capsule were documented. The success rates and the mean elastic modulus of each group were calculated. Results The success rates of 0-7 cm were 0, 98.9%(88/89), 98.9%(88/89), 98.9%(88/89), 71.9%(64/89), 24.7%(22/89), 3.4%(3/89) and 0, respectively. The success rates were highest in 1 cm, 2 cm and 3 cm groups but signiifcant decreased with the increasement of depths in 4 cm, 5 cm and 6 cm groups ( 3 cm vs 4 cm, χ2=25.94, P<0.001; 4 cm vs 5 cm, χ2=39.68, P<0.001;5 cm vs 6 cm,χ2=16.79, P<0.001). The mean elastic modulus of 1 cm, 2 cm, 3 cm, 4 cm and 5 cm groups were (4.77±0.99), (4.68±0.99), (4.76±0.95), (5.19±1.10) and (5.41±0.95) kPa, respectively. The mean elastic modulus of 4 cm and 5 cm groups were signiifcant higher than those of 1 cm, 2 cm, 3 cm groups (4 cm vs 1 cm, t=-2.85, P=0.005;4 cm vs 2 cm, t=-3.49, P=0.001;4 cm vs 3 cm, t=-2.76, P=0.006;5 cm vs 1 cm, t=-3.13, P=0.002;5 cm vs 2 cm, t=-3.66, P=0.000;5 cm vs 3 cm, t=-3.05, P=0.003). In the group of 4 cm, the BMI and the distance from body surface to liver capsule of the volunteers performed successfully and unsuccessfully were (20.70±2.87), (22.07±2.42) kg/m2 and (1.45±0.25 ), (1.60±0.29) cm, respectively. In the group of 5 cm, the BMI and the distance from body surface to liver capsule of the volunteers performed successfully and unsuccessfully were (19.82±2.76), (21.49±2.72) kg/m2 and (1.35±0.21), (1.54±0.26) cm respectively. The BMI had no signiifcant difference between the successful and unsuccessful groups (t=-2.83, P=0.108 for 4 cm;t=0.77, P=0.709 for 5 cm), but the distance from body surface to liver capsule was signiifcantly different (t=26.51, P=0.012 for 4 cm;t=79.57, P=0.004 for 5 cm). Conclusions The success rates and elastic modulus were different at different depths. SWE should be performed at the depths of 1-3 cm from the liver capsule.

OBJECTIVETo analyze the relationship between clinical characteristics and prognosis of neonatal cerebral infarction and to draw attention to the disease to improve the long-term outcome through early diagnosis and intervention.

METHODSThe clinical characteristics of 6 confirmed cases were summarized. Perinatal conditions and other factors were analyzed for possible causes of the disease. The survived patients were followed-up for 6-8 months.

RESULTSThe authors diagnosed 6 cases of neonatal cerebral infarction in one year, which accounted for 0.6% (6/969) of all the in-patients in the same time period. Among them 3 cases were confirmed as cerebrovascular malformations by magnetic resonance angiography (MRA), In 1 case the infarction was due to severe bilateral intraventricular hemorrhage, and in another case the disease was related to comprehensive factors such as prematurity, maternal pregnancy induced hypertension and respiratory failure secondary to bronchopulmonary dysplasia (BPD), and in 1 case the cause was undetermined. Four out of the 6 patients presented with varied forms of convulsions, which became the second leading cause for all the neonatal convulsive events (20%). None of the patients had localized neurological signs in the early course except for abnormal muscular tone of some extent. Cerebral ultrasound scanning in 5 out of 6 cases showed positive results. The diffusion-weighted magnetic resonance imaging (DW-MRI) was highly valuable for early confirmative diagnosis. Only one case was found normal within one year of follow-up and all the other 5 cases had unfavorable prognoses of varied severity.

CONCLUSIONNeonatal cerebral infarction is not a rare condition and should be considered as one of the important causes for neonatal convulsion. Imaging study is the main technique for diagnosis. The prognoses were poor for those cases for whom early diagnosis and treatment can not be made or those with widespread cerebral lesions.

Brain ; blood supply ; pathology ; Cerebral Hemorrhage ; complications ; Cerebral Infarction ; diagnosis ; etiology ; Follow-Up Studies ; Humans ; Infant, Newborn ; Magnetic Resonance Angiography ; Male ; Prognosis ; Seizures ; etiology

OBJECTIVEThis review aimed to update the progress of microRNA (miRNA) in early detection of ovarian cancer. We discussed the current clinical diagnosis methods and biomarkers of ovarian cancer, especially the methods of miRNA in early detection of ovarian cancer.

DATA SOURCESWe collected all relevant studies about miRNA and ovarian cancer in PubMed and CNKI from 1995 to 2015.

STUDY SELECTIONWe included all relevant studies concerning miRNA in early detection of ovarian cancer, and excluded the duplicated articles.

RESULTSmiRNAs play a key role in various biological processes of ovarian cancer, such as development, proliferation, differentiation, apoptosis and metastasis, and these phenomena appear in the early-stage. Therefore, miRNA can be used as a new biomarker for early diagnosis of ovarian cancer, intervention on miRNA expression of known target genes, and potential target genes can achieve the effect of early prevention. With the development of nanoscience and technology, analysis methods of miRNA are also quickly developed, which may provide better characterization of early detection of ovarian cancer.

CONCLUSIONSIn the near future, miRNA therapy could be a powerful tool for ovarian cancer prevention and treatment, and combining with the new analysis technology and new nanomaterials, point-of-care tests for miRNA with high throughput, high sensitivity, and strong specificity are developed to achieve the application of diagnostic kits in screening of early ovarian cancer.

Early Detection of Cancer ; methods ; Female ; Gene Expression Regulation, Neoplastic ; genetics ; Humans ; MicroRNAs ; genetics ; Ovarian Neoplasms ; genetics

OBJECTIVETo study the relationship between STXBP1 gene mutations and refractory seizures with unknown causes in newborns.

METHODSThe coding region of STXBP1 gene was detected using direct Sanger sequencing in 11 newborns with refractory seizures of unknown causes.

RESULTSSTXBP1 gene mutation was found in 1 out of 11 patients. It was a missense mutation: c.1439C>T (p.P480L).

CONCLUSIONSSTXBP1 gene mutation can be found in neonatal refractory seizures of unknown causes, suggesting a new approach of further research of this disease.

Humans ; Infant, Newborn ; Munc18 Proteins ; genetics ; Mutation ; Seizures ; genetics

Objective To evaluate the relationship between G894T(Glu298Asp) polymorphism in the endothelial nitric oxide synthase (eNOS)gene and essential hypertension in Chinese population from difierent regions.Methods Odds ratios(Ors) of G894T genotype and allele distributions in essential hypertension patients against healthy controls were analyzed.All the relevant studies were screened with poor-qualified studies eliminated.Meta-analysis software MIX(Meta-analysis with interactive explanations-version 1.71),was applied for investigating and analyzing heterogeneity among individual studies and summarizing the effects across studies,and the risk of publication bias was evaluated.Results A total of 1900 cases and 1216 controls from 10 studies were included.The heterogeneity between studies Was significant(P=0.013;P=0.011) and there were substantial sources of Publication bias(P=0.049;P=0.038).The pooled OR(with 95% CI) of GT+TT vs.GG genotype was 1.79(1.33-2.42)(Z=3.83,P<0.001),and the pooled OR (with 95% CI) of T vs.G allele Was 1.73(1.32-2.27)(Z=3.92,P<0.001).Conclusion In Chinese population,mainly the Hans ethnic group,894G→T mutation in the eNOS appeared to be related to essential hypertension.