Objective To learn the damage on infants and effect of treatment of congenital cytomegalovirus(CMV) infection and non-congenital cytomegalovirus infection which included perinatal infection and postnatal infection.Methods According to the diagnosis standard of cytomegalovirus infection in China,46 infants diagnosed CMV infection were retrospectively reviewed.In this research,CMV infection was diagnosed if serum CMV-IgM or CMV-pp65 in polymorphous leukocytes was positive.According to beginning time of CMV infection symptom,46 cases were divided into 2 groups: congenital infection and non-congenital infection,clinical features of 2 groups were compared.Ganciclovir was given to the infants with infantile hepatic syndrome of 2 groups,and compared liver transaminases and bilirulin with itself after treatment,side-effect was observed.Infants of 2 groups were followed up,and prognosis was compared.Results In 46 infants,21 were enrolled congenital infection group,25 were non-congenital infection group.CMV-IgM was positive in 38 cases of 46 patients,CMV-pp65 was positive in 19 cases of 43 patients,both CMVIgM and CMV-pp65 were positive in 11 cases.More congenital malformation were found in congenital group than non-congenital group,there was significant difference between 2 groups((P

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.

Objective To analyze the incidence and predictors of unplanned repeat revascularization (RR) in CHD patients with DM within 2 years after coronary drug-eluting stent (DES) implantation.Methods A total of 2764 CHD patients with DM who underwent successful DES were divided into RR group (n=383) and non-RR group (n=2381).The effect of RR on all-cause mortality and myocardial infarction (MI) was analyzed by Cox regression analysis.Results Unplanned RR was detected in 383 patients (13.9％) within 2 years after DES.The rate of insulin therapy for DM was higher and the duration of DM was longer in RR group than in non-RR group (P＜0.05,P＜0.01).Multivariate Cox regression analysis showed that insulin therapy for DM,history of coronary artery bypass graft,serum HbAlc and LDL-C level,multivessel PCI and no use of statins during the follow-up period were the independent predictors of RR.RR was related with MI (adjusted HR=3.967,95％CI:1.284-6.254,P=0.017) but not related with all-cause mortality (adjusted HR=6.134,95％CI:0.435-26.224,P=0.154).Conclusion The severity of disease,complex coronary artery procedures and insufficient drug therapy are the risk factors for RR,and RR is related with ischemic cardiovascular events.

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

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

A case of combined methylmalonic aciduria and homocysteinemia presenting with hydrocephalus as an early manifestation was reported for its rarity to see and to discuss the relationship between metabolic diseases and hydrocephalus by literature review. The case was an infant with seizures and hydrocephalus as an early manifestation of the disease, combined with macrocyticanemia, development retardation and visual hearing function lesions. The EEG showed hypsarrhythmia and the MRI showed hydrocephalus. Plasma homocysteinemia level increased (143.06 umol/L) and urine methylmalonic aciduria was 1483 times beyond normal. Based on gene analysis results and increased methylmalonic aciduria and homocysteinemia levels, combined methylmalonic aciduria and homocysteinemia was confirmed, presenting CblC defect (gene mutations homozygous for c.609G>A). After treatment by venous injection of vitamin B12, oral folic acid and betaine, seizures were controlled and development was progressive with ventricle retraction. It was concluded that hydrocephalus can be the early presentation in children with combined methylmalonic aciduria and homocysteinemia. Doctors should carry out metabolic disease screening for patients with hydrocephalus, especially when the cause of hydrocephalus is uncertain.
Amino Acid Metabolism, Inborn Errors ; complications ; Humans ; Hydrocephalus ; etiology ; Hyperhomocysteinemia ; complications ; Infant ; Male

OBJECTIVETo study the effect of hyperbaric oxygenation (HBO) on the differentiation of the implanted human neural stem cells (hNSCs) into neurons in neonatal rats following hypoxic-ischemic brain damage (HIBD).

METHODSHIBD model was prepared by ligation of the left common carotid artery, followed by 8% hypoxia exposure in 7-day-old Sprague-Dawley rat pups. Three days later, the rats received implantation of hNSCs into the left cerebral ventricles. Then the survived rats were randomly divided into two groups: transplantation alone and transplantation+HBO (n=8 each). HBO treatment was administered (1.8 ATA, 1 hr once daily for 10 days) in the transplantation+HBO group 1 hr after hNSCs transplantation. Brains were removed 10 days after transplantation. Frozen coronal sections were prepared for immunofluorescence analysis to detect the neural differentiation of the transplanted cells in the cerebral cortex and hippocampus.

RESULTSDifferentiated neurons of implanted cells distributed mainly in the cortex and the hippocampus of the injured side. There was no difference in the number of neurons in the cortex between the two groups, while the number of neurons in the hippocampus significantly increased in the transplantation+HBO group compared with that in the transplantation alone group (231.4+15.1 vs 162.6+5.6; P<0.05).

CONCLUSIONSHBO treatment may promote the differentiation of implanted hNSCs into neurons in the hippocampus of neonatal rats following HIBD.

Animals ; Animals, Newborn ; Cell Differentiation ; Female ; Humans ; Hyperbaric Oxygenation ; Hypoxia-Ischemia, Brain ; therapy ; Male ; Neurons ; cytology ; Rats ; Rats, Sprague-Dawley ; Stem Cell Transplantation

OBJECTIVETo study the relationship between early brain response to extrinsic stimulation and neurodevelopment in preterm infants, assess the brain function of preterm infants in the early stage, and thereby to provide objective evidence for the degree of neurodevelopment in preterm infants and to evaluate prognosis.

METHODSUsing near infrared spectroscopy (NIRS), the brain response to sound stimulation of 90 preterm infants at different gestational age was observed and compared with the result obtained from 20 full term infants. The neonatal behavioral neurological assessment (NBNA) was performed at corrected age of 40 weeks, and the infants were followed up for 2 years. The effect of gestational age and brain damage on preterm infants, the relation between early brain response in preterm infants and their neurodevelopment was evaluated.

RESULTSAll the preterm infants responded to different degrees to auditory stimulation after birth. The time to beginning to react and the time to appearance of the peak reaction were attained after auditory stimulation and the time to beginning to resume when the auditory stimulation was stopped was (278 +/- 94) s, (446 +/- 67) s and (199 +/- 52) s, respectively, which were significantly longer than those observed in the full term infants (107 +/- 30) s, (264 +/- 51) s and (131 +/- 46) s, respectively. The maximum reactions of hemoglobin, oxyhemoglobin and regional oxygen saturation in the infants after gestational age 32 weeks was (0.3 +/- 0.3)%, (0.7 +/- 0.5)% and (0.3 +/- 0.3)%, respectively, which were significantly lower than those in the full term infants (1.7 +/- 0.7)%, (1.7 +/- 0.8)% and (1.6 +/- 0.7)%, respectively. When the brain response of preterm infants was compared with that in infants without brain damage, the speed of the reaction was slow, the maximum reaction was low. The brain response in preterm infant was correlated with NBNA at corrected age of 40 weeks. It was found during the following-up that abnormal neurodevelopment was associated with poor brain reaction.

CONCLUSIONSNIRS can be used to evaluate brain response of infants. Preterm infants display brain response to auditory stimulation. Early brain response is correlated with neurodevelopment.

Acoustic Stimulation ; Age Factors ; Brain ; growth & development ; metabolism ; Female ; Follow-Up Studies ; Gestational Age ; Hemoglobins ; metabolism ; Humans ; Infant ; Infant, Newborn ; growth & development ; metabolism ; Infant, Premature ; growth & development ; metabolism ; Male ; Neuropsychological Tests ; Oxygen ; metabolism ; Oxyhemoglobins ; metabolism ; Spectroscopy, Near-Infrared ; Time Factors

OBJECTIVETo compare the differences in cerebral oxygenation responses between the infants born preterm and full-term infants and to evaluate the early cognitive ability of infants born preterm.

METHODSCerebral oxygenation after light stimulation was detected by near infrared spectroscopy (NIRS) in preterm infants at 3 or 6 months corrected gestational age (GA). The results were compared with those of age-matched infants born at term.

RESULTSThe start and peak response time of cerebral oxygenation occurring after light stimulation in preterm infants at 3 months corrected GA was 17.2 +/- 5.2 and 38.4 +/- 9.6 seconds respectively, which were significantly longer than in age-matched term infants (13.1 +/- 2.7 and 28.9 +/- 5.0 seconds respectively) (P < 0.05). The maximum response value of hemoglobin, oxyhemoglobin and regional oxygen saturation of the preterm infants at 3 months corrected GA was (1.2 +/- 0.5)%, (1.5 +/- 0.6)%, and (1.3 +/- 0.4)% respectively , which were significantly lower than that of the term infants [(2.3 +/- 0.3)%, (2.8 +/- 0.3)% and (2.4 +/- 0.5)% respectively] (P < 0.05). Cerebral oxygenation responses to light stimulation in preterm infants examined at 6 months corrected GA were not significantly different from age-matched term infants.

CONCLUSIONSCerebral oxygenation responses to light stimulation in infants born preterm at 3 months corrected GA are not as good as age-matched term infants, but were close to the level of age-matched term infants at 6 months corrected GA. This suggests that the early cognitive ability of preterm infants before 3 months corrected GA might fall behind age-matched term infants.

Brain ; metabolism ; Cognition ; Humans ; Infant, Newborn ; Infant, Premature ; Oxygen ; metabolism ; Photic Stimulation ; Spectroscopy, Near-Infrared