[Preventive early intervention strategies for neurodevelopmental disorders of high-risk infants]. / é«˜å±å„¿ç¥žç»å‘è‚²éšœç¢é¢„é˜²æ€§æ—©æœŸå¹²é¢„ç ”ç©¶è¿›å±•.

Neurodevelopmental disorders in children have become a significant global public health concern, impacting child health worldwide. In China, the current intervention model for high-risk infants involves early diagnosis and early treatment. However, in recent years, overseas studies have explored novel preventive early intervention strategies for neurodevelopmental disorders in high-risk infants, achieving promising results. This article provides a comprehensive review of the optimal timing, methods, and intervention models of the preventive early intervention strategies for neurodevelopmental disorders in high-risk infants. The aim is to enhance the awareness and knowledge of healthcare professionals regarding preventive early intervention strategies for neurodevelopmental disorders in high-risk infants, facilitate clinical research and application of such interventions in China, and ultimately reduce the incidence of neurodevelopmental disorders in this high-risk population.

[Neonatal capillary leak syndrome].

Neonatal capillary leak syndrome is a clinical syndrome with definite etiology or predisposing factors and has the manifestations of hypotension, hemoconcentration, hypoproteinemia, and systemic edema. This disease often has critical conditions and may lead to multiple organ failure and even death. There are still controversies over the diagnosis and treatment of this disease. This article summarizes the recent advances in the diagnosis and treatment of neonatal capillary leak syndrome, in order to improve the diagnosis and treatment of this disease among clinicians.

[Effects of different arterial oxygen partial pressures on serum protein S100ß and neuron specific enolase during cardiopulmonary bypass in infants with cyanotic congenital heart disease].

OBJECTIVE: A prospective study was conducted to probe into the relationship between arterial oxygen partial pressure (PaO2) and brain injury during cardiopulmonary bypass (CPB) in infants with cyanotic congenital heart disease (CHD). METHOD: Enrolled in the study were 45 cyanotic infants, who were less than three years old and underwent corrective cardiac surgery from August 1(st), 2010 to January 31(st), 2011 at Guangdong General Hospital. All the infants had a pulse oxygen saturation (SpO2) lower than 85% and were randomly allocated into three groups by a specific computer program. In controlled group 1 (G1 group), PaO2 levels were controlled at 80 - 120 mm Hg (1 mm Hg = 0.133 kPa) during CPB; in controlled group 2 (G2 group), PaO2 levels at 120 - 200 mm Hg during CPB; while in uncontrolled group (G3 group), PaO2 levels were at 200 - 400 mm Hg during CPB. Blood samples were collected just before starting CPB, at the end of CPB, and at 3 h, 5 h, and 24 h after CPB (T1, T2, T3, T4, T5) for the determination of serum concentrations of protein S100ß, neuron specific enolase (NSE), and adrenomedullin (ADM) by ELISA. RESULT: Protein S100ß rose significantly after starting CPB. In group G3, it reached a peak of (699 ± 139) ng/L by the end of CPB, significantly higher than those in groups G1 and G2 [(528 ± 163) ng/L and (585 ± 155) ng/L], and was positively correlated with PaO2 levels (r = 0.526, P < 0.01). NSE levels of group G1 were continuously rising after starting CPB and reached significantly high levels at 3 h or 5 h after CPB [(12.2 ± 3.4) µg/L and (12.3 ± 3.7) µg/L], while those of group G2 rose significantly during CPB [(10.9 ± 4.8) µg/L] and even higher at 3 h or 5 h after CPB [(12.6 ± 5.1) µg/L and (13.2 ± 5.4) µg/L]. NSE levels of group G3 rose significantly during CPB and maintained at a high level [(12.2 ± 5.7) µg/L] afterwards. There was no significant difference in serum ADM concentrations among different time points in each group and among these three groups. All the infants were discharged from the hospital without any obvious nervous symptom and sign. CONCLUSION: High PaO2 during CPB in infants with CHD might cause an increase of serum protein S100ß and NSE, indicating that brain injury might become worse with a higher PaO2 and might be positively correlated with PaO2 during CPB.

Epidemiologic survey on hospitalized neonates in China.

OBJECTIVE: To carry out a nationwide epidemiologic survey on the neonates in urban hospitals with an attempt to understand the disease spectrum and treatment outcomes of hospitalized neonates in China. METHODS: The clinical data of 43,289 hospitalized neonates from 86 hospitals in 47 Chinese cities (22 provinces) between January 1, 2005 and December 31, 2005 were retrospectively analyzed. RESULTS: The male:female ratio was 1.73:1. Premature infants accounted for 26.2% of the hospitalized neonates, which was higher than that reported in 2002 (19.7%). The top three diseases during the neonatal period were jaundice, pneumonia, and hypoxic-ischemic encephalopathy. The incidences of pneumonia, meconium aspiration syndrome, and bilirubin encephalopathy in term infants were higher than those in premature infants, while the incidences of asphyxia, respiratory distress syndrome, and pulmonary hemorrhage in term infants were lower than those in premature infants. The incidences of asphyxia, small for gestational age infant, and wet lung were higher in neonates whose mother had pregnancy induced hypertension. The outcomes of these hospitalized neonates included: recovered, 63.9%; improved, 27.3%; discharged due to the family's own decisions, 7.6%, and died, 1.2%. Nearly half (46.4%) of the neonatal death occurred within 24 hrs after admission. CONCLUSION: The incidence of premature birth shows an increasing trend among hospitalized neonates. Since the neonatal deaths mainly occur within 24 hrs after admission, monitoring during this period should be enhanced.

Clinical and molecular characteristics of 35 Chinese children with Wiskott-Aldrich syndrome.

BACKGROUND: Wiskott-Aldrich syndrome (WAS) is a rare primary immunodeficiency disease, with an incidence of 4/1,000,000 live male births. In China, an estimated number of 35 babies with WAS are born each year, but likely many remain undiagnosed. OBJECTIVES: The objectives of study were to review the clinical and molecular characteristics of a cohort of Chinese children with WAS and to describe the long-term outcome of those who underwent hematopoietic stem cell transplant (HSCT). MATERIALS AND METHOD: Records of 35 patients diagnosed with WAS during 1991-2008 were reviewed. Genetic diagnosis was established by direct gene sequencing. RESULTS: All patients had classical WAS phenotype. WASP mutations were identified in 33 patients from 29 families. Nine patients underwent HSCT at a mean age of 22.1 months (match-unrelated donor, n = 5; mismatched related donor, n = 2; matched-sibling donor, n = 2). Post-transplant immune hemolytic anemia and thrombocytopenia occurred in three patients with complete resolution. All patients survived without significant long-term complications and had full platelet, T and B lymphocyte recovery within 2 years post-transplant. CONCLUSION: In the past decade, there has been significant improvement in clinical and genetic diagnosis of WAS in Chinese. We demonstrated excellent long-term survival in patients who underwent HSCT. Early workup for transplant should be advocated for children with classical WAS before they suffer from major disease complications and morbidities.

Severe hyperbilirubinaemia in a Chinese girl with type I Crigler-Najjar syndrome: first case ever reported in Mainland China.

Jaundice is common in ethnic Chinese infants, but to our knowledge Crigler-Najjar syndrome (CN syndrome) type I has never been reported in China. A Chinese girl with severe jaundice was recently diagnosed to have CN syndrome type I by analyzing the bilirubin-uridinediphospho (UDP)-glucuronosyltransferase gene (UGT1A1). The patient was homozygous for a nonsense mutation that replaced glutamine (CAG, amino acid 239) with stop codon (TAG) at nucleotide number 715 (715C-->T) in exon 1. No mutation was found in exons 2-5. Her parents were heterozygous for the same mutant. The patient had an average bilirubin level of 300-500 mumol/L and a peak of 701 mumol/L. Daily phototherapy for 15 h was required to keep the bilirubin levels within 280-320 mumol/L. The unconjugated hyperbilirubinaemia apparently resulted from homozygous nonsense mutation of UGT1A1, which could completely abolish the UGT activity towards bilirubin (hepatic glucuronidation) and result in CN syndrome type I. Identification of the genetic defect is very useful for gene therapy, especially for DNA/RNA chimera therapy, and can be used as an antenatal screening test to identify the affected offsprings.

Cerebral intracellular calcium concentrations in asphyxiated rat fetuses resuscitated with oxygen.

OBJECTIVE: To investigate the effects of resuscitation with three different oxygen concentrations on cerebral intra- and extra-cellular calcium, sodium and potassium changes in asphyxiated rat fetuses. METHODS: Fifty-six fetal rats of gestational age of 20 days were randomly assigned into five study groups: sham operation group (control, n = 11), room-air resuscitation group (n = 10), and 3 oxygen-resuscitated groups (n = 14, 11, and 10 respectively). Different inhaled oxygen concentrations and different timings of oxygen delivery were assigned. Except for control all fetal rats were rendered ischemic and hypoxic in utero by interrupting the placental circulation. After re-circulation, intra- and extra-cellular concentrations of calcium, sodium, and potassium in the brains were measured for each individual group. RESULTS: The mean intracellular free calcium concentration of fetal rat brains was similar for the room-air resuscitation group (552.1 +/- 93.5 nmol/L) and the group resuscitated with 92.8% oxygen (520.6 +/- 79.1 nmol/L) and both were significantly higher than in the control (315.3 +/- 86.9 nmol/L) (P < 0.001). After resuscitation with 65% oxygen, be it instituted before or immediately after hypoxia, their mean intracellular free calcium concentrations in the brain cells (441.5 +/- 47.9 and 452.9 +/- 36.4 nmol/L respectively) were significantly lower than those in the room-air resuscitation (P < 0.01) and 92.8% oxygen group (P < 0.05), though still higher than in the control (P > 0.05). There was no difference in the total concentrations of calcium, sodium, or potassium among all groups. CONCLUSIONS: Resuscitation with 92.8% oxygen or room air exerted a similar effect on the parameters measured, indicating that resuscitation of asphyxiated neonates using 100% oxygen might not be superior to using room air. Resuscitation with 65% oxygen resulted in lower cerebral intracellular calcium concentrations and might produce a better outcome than using 100% oxygen or room air.