Fatal Outcome ; Humans ; Infant, Low Birth Weight ; Infant, Newborn ; Infant, Premature, Diseases ; diagnosis ; physiopathology ; Male ; Respiratory Insufficiency ; diagnosis ; physiopathology ; Syndrome

0.05).Conclusions By our detection to healthy full-term neonates of their lipid levels,the recommended borderline up-limits of TC,TG and LDL-C are above 2.71 mmol/L,1.29 mmol/L and 1.12 mmol/L,respectively.The recommended up-limits are above 3.28 mmol/L,1.63 mmol/L and 1.78 mmol/L,respectively.

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.

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

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

Objective To explore the relationship between the incidence of hypoglycemia in infants of diabetic mothers and brain injury.Methods The incidence of 86 infants of diabetic mothers combined with hypoglycemia as well as the relationship time of persistent hypoglycemia of infants were studied.And the association of the incidence and degree of brain injury with the time of persistent hypoglycemia,complication of other diseases and symptomatic hypoglycemia was also investigated.Results Seventy-five cases of temporary hypoglycemia(87.2%),and 11 cases of frequent hypolycemia(12.8%)were observed in the study.In the group of unsatisfactory maternal blood glucose control cases,the incidence of frequent hypoglycemia was 19.4%;in the group of satisfactory maternal blood glucose control cases,the incidence of frequent hypoglycemia was 8%.The overall incidence of the brain injury and the incidence of severe brain injury in the group of frequent hypoglycemic cases were higher than those in the group of temporary hypoglycemic cases.The incidence of brain injury in cases complicated with other diseases(77.4%) and in those with clinical symptoms(81.2%) were significantly higher than those in without other diseases(48.5%) and clinical symptoms(57.4%)(Pa

OBJECTIVETo investigate the clinical manifestations, imaging characteristics as well as prognosis of neonatal polycythemia complicated with brain damage.

METHODSOne hundred and sixteen in-patients with neonatal polycythemia admitted to our hospital during January 2003 to October 2005 were analyzed. Their clinical manifestations were observed. Craniocerebral ultrasonic examination (2D, 3D), CT and MRI were employed to dynamically observe the craniocerebral imaging variances as well as the cerebral hemodynamic variations and near infrared spectroscopy (NIR) was adopted to test the cerebral oxygenation. Twenty-two cases with moderate or severe disease were followed up for 3 to 12 months.

RESULTSOut of the 116 polycythemic neonates, 53 cases had brain damages, of whom 31 had mild, 14 had moderate, and 8 had severe damages. Cranial imaging alterations were mostly ischemic injuries of various areas of different severity. The severity of brain damage was closely related to the duration of polycythemia, oxygen saturation of cerebral tissues as well as cerebral hemodynamic abnormalities. Brain injury was likely to occur in those whose polycythemia persisted for more than three days. The regional saturation of oxygen (rSO(2)) in mild brain injury cases was found to be 52.1%, while it was 47.1% in moderate and severe brain injury cases. Compared to the 58% as found in non-brain injury cases, the variance was found to be statistically significant (F = 104.466, P < 0.01). Among the cases with brain injury, cerebral hemodynamics displayed a slowdown in the blood flow velocity in the cerebral anterior artery and medium artery during the systolic phase and/or the diastolic phase. The abnormality ratio was closely related to the severity of brain injury. Through the chi(2) test the variance was proved to be statistically highly significant (chi(2) = 18.889, P < 0.01), however it was not correlated with the increase of the initial levels of hemoglobin (Hb) and hematocrit (HCT) (P > 0.05). During the follow up, neurological developmental abnormalities of various severity were found to exist in the cases with moderate (5/12) and severe disease (7/8), while cerebral palsy or epilepsy was not yet found.

CONCLUSIONNeonatal polycythemia might tend to bring about a reduction in the perfusion of cerebral blood flow and damaged cerebral oxygenation metabolism which in turn might lead to cerebral ischemic injury, which in some of the moderate and severe cases might lead to long-term neurological complications. Imaging investigations especially craniocerebral ultrasonic examination could be the practical means for the early diagnosis and evaluation of prognosis.

Brain ; pathology ; Brain Damage, Chronic ; complications ; Cerebrovascular Circulation ; Female ; Humans ; Infant, Newborn ; Infant, Newborn, Diseases ; Magnetic Resonance Imaging ; Male ; Polycythemia ; complications ; Skull ; diagnostic imaging ; Tomography Scanners, X-Ray Computed ; Ultrasonography

Objective Studies on cardia-cancer caused by hereditary factors. Methods Case-control method was adopted,with information including name,sex,date of birth,date of death of all the Ⅰ,Ⅱ,Ⅲ relatives of the patients,diagnosis and the treatment collected. The hereditary probability of cardia cancer and the separation degree were calculated by Falconer and Li-Mentel-Gart. Results (1) Prevalence rates of cardia-cancer on relative Ⅰ,relative Ⅱ,relative Ⅲ of cardia-cancer patients appeared to be 0.54%,0.04%,and 0.05% respectively. Prevalence rates of upper-digestive-tract-cancer of relative Ⅰ,relative Ⅱ,relative Ⅲ of cardia-cancer patients showed as: 2.50%,0.36% and 0.13% respectively. Data showed that relative Ⅰ> relative Ⅱ> relative Ⅲ and family cluster existed in both males and females. (2) Cardia-cancer hereditary probability of the relative Ⅰ cardia-cancer probands was 11.71%,with males as 14.01% and females as 14.72%. The upper-digestive-tract-cancer hereditary probability of the relative Ⅰ cardia-cancer probands was 13.87%,with males as 11.49% and females as 23.08%,both below 25%,indicating this was a low hereditary cancer. (3) The upper-digestive-tract-cancer separation of the blood compatriots of cardia-cancer patients was 0.0452,with males as 0.0441 and females as 0.0507,both below 0.25,indicating the nature of a multi-gene but not single-gene hereditary way. Conclusion Hereditary factor is recognized as one of the high risk cardia cancer,but not the most risky factor causing the high morbidity of cardia cancer in Shanxi province.