Mutation of growth hormone receptor gene in patients with short stature / 中华儿科杂志

<p><b>OBJECTIVES</b>The mutations of growth hormone receptor (GHR) gene results in growth hormone insensitivity (Laron syndrome) or partial growth hormone insensitivity. This study aimed to understand the relation between mutations of GHR gene and short stature with non-growth-hormone deficiency, and the clinical feature of the patients with the GHR gene mutations.</p><p><b>METHODS</b>(1) Forty-seven patients with non-growth-hormone deficiency and short stature were enrolled in this study, 33 were male and 14 female. The age of the patients were at a range of 2 - 16 years. (2) The mutations of GHR gene were identified by PCR-SSCP and DNA sequencing. (3) The characteristics of the GHR mutation was assumed by screening for the same mutations in patients' family members and the control samples.</p><p><b>RESULTS</b>(1) Four GHR mutations were identified in 5 patients with non-growth-hormone deficiency: H56R, G148E, IVS6-30, -31CA > TG and IVS8 + 10G > C. These mutations were located within the extracellular domain of GHR and not reported before. Five patients were the heterozygous of H56R, G148E, IVS6-30, -31CA > TG and IVS8 + 10G > C. The detection rate of mutant heterozygous individual accounted for 10.6% (5/47). The mutations were considered non-polymorphism by the GHR gene analysis in patients' family members and control samples. (2) Comparison of the amino acid sequence of different species and the position of the mutations H56R and G148E in the GHR protein structure suggested impact of the mutations on the protein function. (3) A polymorphism site was identified in exon 6 of GHR gene: G168G (GGA > GGG). The allelic frequency of G168G had no difference between the patients with non-growth-hormone deficiency and control samples but had significant difference between Chinese and Caucasian. It seems that the G168G was a polymorphism and has no relationship with the height stature. However, there was the allele diversity in different races.</p><p><b>CONCLUSION</b>The mutations of GHR gene were detected in the patients with non-growth-hormone deficiency. Special attention should be paid clinically to its potential pathogenesis for short stature.</p>

Lowering incidence of cerebral palsy of premature infants through early intervention / 中华儿科杂志

<p><b>OBJECTIVE</b>In recent years, the survival rate of premature infants is increased, but the incidence of cerebral palsy did not decrease, instead, there was a tendency of increase. The incidence of cerebral palsy of premature infants was 29.13 per thousand in 7 provinces in China in an investigation of over 30,000 children 1 - 6 years of age in 1997, which is 25.16 times higher than that of full term infants. Each year, about 1 million premature infants are born in China, which may include an increase of approximately 29,000 cerebral palsy infants. The rehabilitation expense of cerebral palsy infants is high, older patients cannot be cured; only improved life quality is possible. Therefore, we carried out this research from March 1, 2000 to the end of February 2003 to explore the effects of early intervention in lowering the incidence of cerebral palsy among premature infants.</p><p><b>METHODS</b>A total of 1053 cases of survived premature infants, gestational age under 37 weeks, excluding those with congenital deformity and hereditary metabolic diseases, born or treated in all collaborative units were classified into 2 groups: early intervention group (551 cases) and routine care group (502 cases). Method of classification: all premature infants born within 1 year before beginning of the study and premature infants born after beginning of the study whose parents did not want to receive early intervention were included in the routine care group; all premature infants born after beginning of the study whose family intended to actively participate in early intervention were included in the intervention group. The numbers of infants in the two groups were quite close in each collaborative unit. In the intervention group, the premature infants received early intervention after discharge from hospital, in addition to routine care, once a month before corrected age of 6 months and once every two months after 6 months. The parents were instructed to cultivate the infant's cognition, language, emotion and communication ability, and the infants were given massage, subjected to exercise and received active motor training. All infants with abnormal motor manifestations were given appropriate rehabilitation training. In the routine care group, infants received similar routine care only.</p><p><b>RESULTS</b>In the 2 groups, no significant differences (P > 0.05) were found in complications of pregnant mothers, average gestational age and birth weight, proportion of small for gestational age (SGA), proportion of single and multiple births, fetal stress, postnatal asphyxia, incidence of neonatal hypoxic inschemic encephalopathy (HIE) and intracranial hemorrhage, Apgar Score and Neonatal Behavioral Neurological Assessment Score at 40 weeks of gestational age. These indicate that the two groups were comparable. At 1 year of age, the incidence of cerebral palsy was 0.91% (5/551) in the intervention group and 3.19% (16/502) in the routine care group (P < 0.01). Of the 5 cases with cerebral palsy in the interventional group, 3 were mild and 2 severe. Of the 16 cases in the routine care group, 7 were moderate and 9 severe.</p><p><b>CONCLUSION</b>Early intervention can reduce the incidence of cerebral palsy of premature infants. This conclusion awaits confirmation from studies with larger sample size.</p>