Effect of integrated schistosomiasis control in Honghu City from 2008 to 2018 / 中国血吸虫病防治杂志

Objective To evaluate the effect of integrated schistosomiasis control measures in Honghu City during the period from 2008 through 2018. Methods The data pertaining to schistosomiasis control measures and the endemic situation of schistosomiasis in Honghu City were collected from 2008 to 2018, and the effect of integrated schistosomiasis control measures implemented was evaluated. Results The resources from agriculture, water resources, forestry, land, education and communication sectors were integrated to implement the integrated schistosomiasis control strategy with the focus on the control of source of Schistosoma japonicum infection in Honghu City from 2008 to 2018. The prevalence of S. japonicum infection reduced from 3.03% in 2008 to 0 in 2018 in humans in the city, and no acute infection was detected since 2009. In addition, the prevalence of S. japonicum infection in cattle reduced from 2.85% in 2008 to 0 in 2018, and no snail infection was found since 2012. Transmission control of schistosomiasis was achieved in the city in 2013, and transmission interruption was achieved in 2018. Conclusions The integrated schistosomiasis control measures achieve remarkable effects in Honghu City; however, there is still a risk of schistosomiasis transmission.

Effect of integrated schistosomiasis control in Honghu City from 2008 to 2018 / 中国血吸虫病防治杂志

Objective To evaluate the effect of integrated schistosomiasis control measures in Honghu City during the period from 2008 through 2018. Methods The data pertaining to schistosomiasis control measures and the endemic situation of schistosomiasis in Honghu City were collected from 2008 to 2018, and the effect of integrated schistosomiasis control measures implemented was evaluated. Results The resources from agriculture, water resources, forestry, land, education and communication sectors were integrated to implement the integrated schistosomiasis control strategy with the focus on the control of source of Schistosoma japonicum infection in Honghu City from 2008 to 2018. The prevalence of S. japonicum infection reduced from 3.03% in 2008 to 0 in 2018 in humans in the city, and no acute infection was detected since 2009. In addition, the prevalence of S. japonicum infection in cattle reduced from 2.85% in 2008 to 0 in 2018, and no snail infection was found since 2012. Transmission control of schistosomiasis was achieved in the city in 2013, and transmission interruption was achieved in 2018. Conclusions The integrated schistosomiasis control measures achieve remarkable effects in Honghu City; however, there is still a risk of schistosomiasis transmission.

Clinical features and C12orf65 mutations of autosomal recessive spastic paraplegia-55: a case report / 中国当代儿科杂志

This article reports the clinical features and C12orf65 gene mutations of a girl with autosomal recessive spastic paraplegia-55. The 8-year-old girl experienced disease onset at the age of 5 years and had optic atrophy as the main clinical manifestation, with slow movements in standing up and a slight duck-shaped gait. Peripheral blood DNA samples were collected from this child and her parents and brother to perform high-throughput whole-exome sequencing and high-throughput mitochondrial genome sequencing. Sanger sequencing was performed for verification. The results showed two compound heterozygous mutations, c.394C>T and c.447_449delGGAinsGT, in the C12orf65 gene. The former mutation came from her father and was a known pathogenic mutation, and the latter came from her mother and was a novel mutation which had not been reported in literature. This study expands the mutation spectrum of the C12orf65 gene and thus provides a molecular basis for the etiological diagnosis of the child and the genetic counseling of the family.

NIPBL gene mutations in two children with Cornelia de Lange syndrome / 中国当代儿科杂志

Both children (one boy and one girl) experienced disease onset in infancy and visited the hospital due to growth retardation. They had unusual facies including thick hair, arched and confluent eyebrows, long and curly eyelashes, short nose, and micrognathia. Patient 1 had congenital heart disease (atrial septal defect and pulmonary stenosis) and special dermatoglyph (a single palmar crease). Patient 2 had cleft palate and moderate-to-severe deafness. Clinical features suggested Cornelia de Lange syndrome in both children. High-throughput sequencing was used to detect the seven known pathogenic genes of Cornelia de Lange syndrome, i.e., the NIPBL, SMC1A, SMC3, HDAC8, RAD21, EP300, and ANKRD11 genes. Sanger sequencing was used to analyze and verify gene mutations. Both patients were found to have novel mutations in the NIPBL gene. One patient had a frameshift mutation in exon 45, c.7834dupA, which caused early termination of translation and produced truncated protein p.R2612fsX20. The other patient had a nonsense mutation, c.505C>T, which caused a premature stop codon and produced truncated protein Q169X. Such mutations were not found in their parents or 50 unrelated healthy individuals.

Relationship of genotypes with clinical phenotypes and outcomes in children with cobalamin C type combined methylmalonic aciduria and homocystinuria / 中国当代儿科杂志

<p><b>OBJECTIVE</b>To analyze mutation types, clinical features, and treatment outcomes of cobalamin C (cblC) type combined methylmalonic aciduria and homocystinuria (MMA-HC) and to investigate the relationship of genotypes with clinical phenotypes and outcomes.</p><p><b>METHODS</b>The clinical data of 16 Chinese children diagnosed with cblC type MMA-HC by gene analysis were retrospectively analyzed. According to the onset age, the patients were classified into early onset (≤1 year) and late onset (>1 year). According to the clinical phenotype, the patients were classified into mild, moderate, and severe groups. All the patients were treated with vitamin B12 (cyanocobalamin) or hydroxocobalamin, betaine, folate, vitamin B6, and L-carnitine.</p><p><b>RESULTS</b>Fifteen patients belonged to the early onset type, including 11 in the severe group and 4 in the moderate group. The remaining one belonged to the late onset type. Seven reported mutations and two novel mutations (c.445_446delTG and c.349G>c) were detected. The c.609G>A and c.658_660delAAG were the most common mutations detected in 13 (81%) out of 16 patients. The genotype caused by compound heterozygous mutations of these two alleles (c.609 G>A/c.658_660delAAG) was the most common in the patients, detected in 4 (25%) out of 16 patients. Patients with this genotype had severe microcephaly and eye diseases and these clinical manifestations were not improved after the treatment. The patient with late-onset cblC type MMA-HC had normal clinical phenotypes after treatment. In the 15 early onset patients, the more severe the clinical phenotype, the worse the treatment outcome.</p><p><b>CONCLUSIONS</b>The cblC type MMA-HC mainly manifests as early onset in China and c.609G >A and c.658_660delAAG are the most common mutations causing this disease. The clinical phenotypes are associated with the outcomes in children with cblC type MMA-HC.</p>

Clinical characteristics of pediatric hemorrhagic fever with renal syndrome / 中国当代儿科杂志

<p><b>OBJECTIVE</b>To study the clinical characteristics of pediatric hemorrhagic fever with renal syndrome (HFRS), and to improve its understanding so as to reduce the misdiagnosis.</p><p><b>METHODS</b>A retrospective analysis was performed on the clinical data of 26 children with HFRS between January 2009 and December 2012.</p><p><b>RESULTS</b>The age of disease onset was mainly distributed between 7 and 14 years (23 cases, 88%), and the male-to-female ratio was 1.89:l. The clinical manifestations of pediatric HFRS varied. The early symptoms resembled those of a cold, and in the course of HFRS, most patients developed digestive symptoms such as vomiting and abdominal pain. The laboratory examinations usually implicated platelet changes, and the imaging examinations revealed polyserous effusions. The prominent complication was myocardial injury.</p><p><b>CONCLUSIONS</b>Pediatric HFRS mainly occurs in school-age children, more commonly in males. HFRS does not have typical clinical manifestations or symptoms, so it should be distinguished from cold or appendicitis at the early stage. When applying the fluid replacement therapy, the cardiac function should be carefully monitored in case of heart failure.</p>

Rickets-like genetic diseases / 中国当代儿科杂志

This paper summarizes the clinical features, causative genes and treatment progress of patients with rickets-like genetic diseases, including X-linked hypophosphatemic rickets (XLH), hypophosphatasia, achondroplasia, vitamin D-dependent rickets, pycnodysostosis and ectodermal dysplasia, who visited the pediatric or child health clinic due to the symptoms of rickets, including bow legs, delayed closure of the anterior fontanelle, and sparse hair. Children with XLH usually go to hospital for bow legs and short stature, and biochemical evaluation reveals significantly low serum phosphorus so it is easily diagnosed. This disease is treated using phosphate mixture and 1,25(OH)2D3, which is different from the treatment of nutritional vitamin D deficiency rickets. Hypophosphatasia is characterized by a significant decrease in serum alkaline phosphatase, as well as normal serum calcium and phosphorus. The disease is caused by mutations in TNSALP gene. Patients with achondroplasia show short-limbed dwarfism and special face in addition to bow legs, but with normal serum calcium, phosphorus and alkaline phosphatase. Bone X-ray and FGFR3 gene test contribute to the diagnosis. Vitamin D-dependent rickets is an autosomal recessive disease, and active vitamin D supplement is effective in treatment of the disease. Patients with pycnodysostosis may be first seen at hospital because of large anterior fontanelle; in addition, they also show obtuse mandibular angle, dental abnormalities and dysplastic nails, which are caused by mutations in TSK gene. Children with ectodermal dysplasia may see a doctor for sparse hair, and they are easily misdiagnosed with nutritional vitamin D deficiency rickets. Ectodermal dysplasia is related to EDA, EDAR, EDARADD and WNT 10A genes.

Gene mutation analysis of X-linked hypophosphatemic rickets / 中国当代儿科杂志

<p><b>OBJECTIVE</b>To investigate the frequency and type of PHEX gene mutations in children with X-linked hypophosphatemic rickets (XLH), the possible presence of mutational hot spots, and the relationship between genotype and clinical phenotype.</p><p><b>METHODS</b>Clinical data of 10 children with XLH was retrospectively reviewed. The relationship between gene mutation type and severity of XLH was evaluated.</p><p><b>RESULTS</b>PHEX gene mutations were detected in all 10 children with XLH, including 6 cases of missense mutation, 2 cases of splice site mutation, 1 case of frameshift mutation, and 1 case of nonsense mutation. Two new mutations, c.2048T>C and IVS14+1delAG, were found. The type of PHEX gene mutation was not associated with the degree of short stature and leg deformity (P=0.571 and 0.467), and the mutation site was also not associated with the degree of short stature and leg deformity (P=0.400 and 1.000).</p><p><b>CONCLUSIONS</b>Missense mutation is the most common type of PHEX gene mutation in children with XLH, and c.2048T>C and IVS14+1delAG are two new PHEX gene mutations. The type and site of PHEX gene mutation are not associated with the severity of XLH.</p>

Clinical analysis and genetic diagnosis of short-limb inherited short stature diseases in children / 中国当代儿科杂志

<p><b>OBJECTIVE</b>To analyze the clinical manifestations, bone X-ray findings and genetic analysis results of three short-limb inherited short stature diseases: achondroplasia (ACH), hypochondroplasia (HCH) and pseudoachondroplasia (PSACH).</p><p><b>METHODS</b>The clinical manifestations, bone X-ray findings, and genetic analysis results of 10 children with genetically confirmed short-limb inherited short stature diseases, including 4 cases of ACH 3 cases of HCH, and 3 cases of PSACH, were analyzed.</p><p><b>RESULTS</b>The 10 patients had a mean body height of -3.69±1.79 SD, a mean sitting height/standing height ratio of 0.65±0.03, and a mean finger spacing/body height ratio of 0.93±0.04. Four ACH cases and 3 PSACH cases showed typical bone X-ray findings; one HCH case showed a smaller sciatic notch, and another HCH case showed no widening of interpedicular distance. G380R mutation in FGFR3 gene was detected in 3 of 4 ACH cases, and Y278C mutation in the other ACH case, N540K mutation in FGFR3 gene was detected in 3 HCH cases, and heterozygous mutations in COMP gene were detected in 3 PSACH cases.</p><p><b>CONCLUSIONS</b>Children with ACH and PSACH have severer short stature and skeletal deformities than children with HCH, who have mild, atypical clinical manifestations. Bone X-ray and genetic analysis are helpful for the diagnosis and differential diagnosis of the three diseases. The mutational hotspots in two genes are involved in the three diseases, which is conducive to clinical genetic diagnosis.</p>

Molecular genetics of functional articulation disorder in children / 中国当代儿科杂志

Genetic factors are an important cause of functional articulation disorder in children. This article reviews some genes and chromosome regions associated with a genetic susceptibility to functional articulation disorders. The forkhead box P2 (FOXP2) gene on chromosome 7 is introduced in details including its structure, expression and function. The relationship between the FOXP2 gene and developmental apraxia of speech is discussed. As a transcription factor, FOXP2 gene regulates the expression of many genes. CNTNAP2 as an important target gene of FOXP2 is a key gene influencing language development. Functional articulation disorder may be developed to dyslexia, therefore some candidate regions and genes related to dyslexia, such as 3p12-13, 15q11-21, 6p22 and 1p34-36, are also introduced. ROBO1 gene in 3p12.3, ZNF280D gene, TCF12 gene, EKN1 gene in 15q21, and KIAA0319 gene in 6p22 have been candidate genes for the study of functional articulation disorder.

Clinical application of M-CHAT and CHAT-23 for autism screening / 中国当代儿科杂志

<p><b>OBJECTIVE</b>To analyze and compare Modified Checklist for Autism in Toddlers (M-CHAT) and Checklist for Autism in Toddlers-23 (CHAT-23) in terms of clinical applicability, and to provide a basis for the understanding of early specific clinical manifestations of children with autism.</p><p><b>METHODS</b>A total of 350 children aged 18-36 months who visited the Department of Developmental Pediatrics of Shengjing Hospital of China Medical University were enrolled as subjects. Of the 350 children, 284 who had not been previously diagnosed with autism were screened according to the two checklists. Sixty-eight confirmed cases of autism (including two of the 284 screening subjects diagnosed with autism) were assigned to the autism group, and 278 of the 284 screening subjects (except six children diagnosed with autism, mental retardation or cerebral palsy) were assigned to the control group. The two groups were compared with respect to the positive rate for each item in the checklists. The efficacy of the M-CHAT and CHAT-23 assessment criteria was evaluated by comparative analysis.</p><p><b>RESULTS</b>The autism group showed the highest positive rate for Item 9. There were significant differences between the two groups in terms of the positive rates for all items except Item 16 (P<0.05). When the assessment criterion was that autism was confirmed if there were positive results for at least 3 of a total of 23 items, M-CHAT showed the lowest rate of missed diagnosis (0%); when the assessment criterion was that autism was confirmed if there were positive results for at least 6 of a total of 23 items, CHAT-23 showed the lowest rate of misdiagnosis (1.77%). The specificity of M-CHAT is lower than that of CHAT-23 (P<0.05). There was no significant difference in sensitivity between the two checklists (P>0.05).</p><p><b>CONCLUSIONS</b>CHAT-23 is more suitable than M-CHAT for clinical autism screening due to higher specificity, as well as having the advantages of low cost, easy completion,high efficiency and easy result judgment.</p>

Prospective, naturalistic study of open-label OROS methylphenidate treatment in Chinese school-aged children with attention-deficit/hyperactivity disorder / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>Attention deficit hyperactivity disorder (ADHD) is one of the most common mental disorders during childhood, characterized by the core symptoms of hyperactivity, impulsivity and inattention and puts great burden on children themselves, their families and the society. Osmotic release oral system methylphenidate (OROS-MPH) is a once-daily controlled-release formulation developed to overcome some of the limitations associated with immediate-release methylphenidate (IR-MPH). It has been marketed in China since 2005 but still lacks data from large-sample clinical trials on efficacy and safety profiles. The aim of this study was to evaluate the effectiveness and safety of OROS-MPH in children aged 6 to 16 years with ADHD under naturalistic clinical setting.</p><p><b>METHODS</b>This 6-week, multi-center, prospective, open-label study enrolled 1447 ADHD children to once-daily OROS-MPH (18 mg, 36 mg or 54 mg) treatment. The effectiveness measures were parent-rated Inattention and Overactivity With Aggression (IOWA) Conners I/O and O/D subscales, physician-rated CGI-I and parent-rated global efficacy assessment scale. Blood pressure, pulse rate measurement, adverse events (AEs) and concomitant medications and treatment review were conducted by the investigator and were served as safety measures.</p><p><b>RESULTS</b>A total of 1447 children with ADHD (mean age (9.52 ± 2.36) years) were enrolled in this trial. Totally 96.8% children received an OROS-MPH modal dose of 18 mg, 3.1% with 36 mg and 0.1% with 54 mg at the endpoint of study. The parent IOWA Conners I/O score at the end of week 2 showed statistically significant (P < 0.001) improvement with OROS-MPH (mean: 6.95 ± 2.71) versus the score at baseline (10.45 ± 2.72). The change in the parent IOWA Conners O/D subscale, CGI-I and parent-rated global efficacy assessment scale also supported the superior efficacy for OROS-MPH treatment. Fewer than half of 1447 patients (511(35.3%)) reported AEs, and the majority of the events reported were mild (68.2%). No serious adverse events were reported during the study.</p><p><b>CONCLUSION</b>This open-label, naturalistic study provides further evidence of effectiveness and safety of OROS-MPH in school-aged children under routine practice.</p>

Relationship between gene mutations and intelligence in children with Duchenne muscular dystrophy / 中国当代儿科杂志

<p><b>OBJECTIVE</b>To study the level of intelligence in children with Duchenne muscular dystrophy (DMD), and the relationship between the level of intelligence and gene mutations.</p><p><b>METHODS</b>One hundred and two children with DMD between January 2009 and March 2011 were enrolled. DMD gene detection was performed through the multiplex ligation-dependent probe amplification (MLPA) in 84 cases. The level and the structure of intelligence were evaluated by Chinese Wechsler Intelligence Scale for Children (C-WISC) in 50 children with DMD (≥6 years old; DMD group) and in 50 age-and gender-matched healthy children (control group).</p><p><b>RESULTS</b>The average intelligence quotient (IQ) was 84±21 in 102 children with DMD. Thirty patients (29.4%) had the full intelligence quotient (FIQ) less than 70. The FIQ, verbal intelligence quotient (VIQ), performance intelligence quotient (PIQ) and the scores of 11 sub-tests of intelligence in the DMD group were significantly lower than those in the control group (P<0.01). The IQ in patients with gene mutations at exon 56-79 was the lowest (59.3±11.9), followed by in patients with gene mutations at exon 45-55 (88.6±1.9), at exon 1-29 (97.5±9.6) and at exon 30-44 (102.8±3.8) (P<0.01).</p><p><b>CONCLUSIONS</b>The FIQ, VIQ and PIQ in children with DMD are lower than those in healthy children. There is association between mental retardation and gene mutations.</p>

Comparative study on sensory integration function in children with primary nocturnal enuresis / 中国当代儿科杂志

<p><b>OBJECTIVE</b>To study the sensory integration function in children with primary nocturnal enuresis (PNE).</p><p><b>METHODS</b>The sensory integration function was assessed by the Childhood Sensory Integration Ability Development Checklist in 70 children with PNE and was compared with that in 74 normal children(control group).</p><p><b>RESULTS</b>The incidence of sensory integration dysfunction (76%) in the PNE group were significantly higher than that in the control group (35%; P<0.01). Severe sensory integration dysfunction occurred in more children in the PNE group compared with the control group (39% vs 18%; P<0.01). The scores of all sensory integration indexes revealed by sensory integration function testing in the PNE group were significantly lower than those in the control group (P<0.01).</p><p><b>CONCLUSIONS</b>The majority of children with PNE have sensory integrative dysfunction which presents in various aspects. It is necessary to assess the sensory integration function in children with PNE.</p>

Study of SMN gene in Chinese children with spinal muscular atrophy / 中国当代儿科杂志

<p><b>OBJECTIVE</b>To study the incidence of homozygous absence of SMN1 exons 7 and 8, SMN gene conversion frequency and SMN subtle mutations in children with spinal muscular atrophy (SMA).</p><p><b>METHODS</b>The homozygous deletion was detected by PCR-RFLP in 106 Chinese children with SMA, gene conversion by RFLP and subtle mutations by sequencing.</p><p><b>RESULTS</b>The rate of deletion of SMN1 exons 7 and/or 8 was 91.5%. Deletion of SMN1 exon 8 but existence of exon 7 was noted in one child with SMA. There were no significant differences in the gene conversion frequency among children with different types of SMA and who had homozygous deletion of SMN1 exon 7 but existence of exon 8. The gene conversion frequency was 8.3% in children with homozygous deletion of SMN1 exon 7. No subtle mutations were found around SMN1 exon 7.</p><p><b>CONCLUSIONS</b>Deletion of SMN1 exons 7 and/or 8 is the main cause of SMA in Chinese children. There exists a SMN gene conversion phenomenon in SMA. Deletion of exon 8 might lead to SMA. The hot area of subtle mutations of this disease might not be around SMN1 exon 7.</p>

Intelligence level and structure in school age children with fetal growth restriction / 中国当代儿科杂志

<p><b>OBJECTIVE</b>To study the intelligence level and structure in school age children with fetal growth restriction (FGR).</p><p><b>METHODS</b>The intelligence levels were tested by the Wechsler Children Scales of Intelligence (C-WISC) in 54 children with FGR and in 84 normal children.</p><p><b>RESULTS</b>The full intelligence quotient (FIQ), verbal IQ (VIQ) and performance IQ (PIQ) in the FGR group were 105.9+/-10.3, 112.4+/-11.2 and 97.1+/-10.6 respectively, and they all were in a normal range. But the PIQ was significantly lower than that in the control group (104.8+/-10.5; p<0.001), and the picture arrangement and the decipher subtest scores were significantly lower than those in the control group (p<0.01). The scores of perception/organization and memory/attention factors in the FGR group were 99.8+/-11.1 and 116.3+/-14.4, respectively, which were inferior to those in the control group (104.6+/-11.5 and 113.4+/-14.5 respectively; p<0.05).</p><p><b>CONCLUSIONS</b>The total intelligence level of children with FGR is normal, but there are imbalances in the intelligence structure and dysfunctions in performance ability related to right cerebral hemisphere. Performance trainings should be done from the infancy in children with FGR.</p>

Analysis on del detection of RhD (-) in unrelated blood donors / 中国实验血液学杂志

The study was aimed to analyze Del phenotype of RhD (-) unrelated blood donors. RhD (-) was initially screened by routine serological test and confirmed by indirect antiglobulin test (IAT). Del phenotype was detected by hot-ether absorption-elution test. The results indicated that 106 RhD (-) samples were confirmed out of 38526 donors, and 28 cases were Del detected by hot-ether absorption-elution test. The incidence of Del in RhD (-) samples was 26.41%, The serological phenotypes of Del were Ccee (78.57%), CCee (14.29%) and CcEe (7.14%) respectively. In conclusion, the detection of Del by using hot-ether absorption-elution test is very important for reasonable application of RhD (-) blood. There is difference in Del phenotypes of populations in different regions of China and Japan.

Comorbidities and behavioral problems in children with functional articulation disorder / 中国当代儿科杂志

<p><b>OBJECTIVE</b>To study the incidences of comorbidities and behavioral problems in children with functional articulation disorders.</p><p><b>METHODS</b>One hundred and twelve children with functional articulation disorders (aged 4-11 years) were enrolled. Their comorbidities were identified based on clinical investigations and the DSM-IV diagnosis criteria of attention deficit hyperactivity disorder (ADHD), stuttering, tic disorders and enuresis. Behavioral problems were evaluated by the Conners Parent Symptom Questionnaire and the Child Behavior Checklist.</p><p><b>RESULTS</b>Sixty-nine patients (61.6%) had one or more comorbidities. The incidence of comorbidity in children with middle-severe functional articulation disorders was higher than in those with mild disorders. The most common comorbidity was language impairment (30.4%), followed by stuttering (16.1%), enuresis (13.4%), and tic disorders (6.3%). In school age children, ADHD (47.5%) was the most common comorbidity. The incidence of behavioral problems was 40.2% by the Child Behavior Checklist and 57.1% by the Parent Symptom Questionnaire.</p><p><b>CONCLUSIONS</b>The children with functional articulation disorders have high incidence of comorbidity and many behavioral problems.</p>

Gene diagnosis for spinal muscular atrophy and its application study / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To establish an effective testing system for gene diagnosis, carrier detection and prenatal diagnosis for spinal muscular atrophy (SMA).</p><p><b>METHODS</b>Twenty-six patients with SMA were directly tested with PCR-RFLP for exon 7 deletion in the SMN1 gene. Carrier detection was carried out with multi-PCR-DHPLC. Amniotic fluid was taken at the middle stage of gestation from pregnant women who had given birth to affected children.</p><p><b>RESULTS</b>Twenty-five out of 26 patients were diagnosed as having SMN1 gene deletion. Fifty-two of their parents were found to be carriers of exon 7 deletion. Eight of 20 fetuses were diagnosed as having SMN1 gene deletion by PCR-RFLP.</p><p><b>CONCLUSION</b>PCR-RFLP and multi-PCR-DHPLC techniques can provide rapid diagnosis for exon 7 deletion detection and carrier detection. PCR-RFLP may also be adapted for prenatal gene diagnosis of exon 7 deletion in SMN1 gene.</p>

Relationship between dopamine D4 receptor gene polymorphisms and primary nocturnal enuresis / 中国当代儿科杂志

<p><b>OBJECTIVE</b>To study polymorphisms of dopamine D4 receptor (DRD4) in children with primary nocturnal enuresis (PNE) and explore the relationship between DRD4 gene polymorphisms and PNE.</p><p><b>METHODS</b>Genomic DNA was isolated from leukocytes in 86 unrelated children with PNE and in 100 healthy unrelated children (controls). Polymorphisms of DRD4-1240L/S, -616C/G and -521C/T were genotyped by allele-specific primer PCR.</p><p><b>RESULTS</b>There were significant differences in allele frequencies (x2=8.13, P<0.05) and genotypes frequencies (x2=6.23, P<0.05) of DRD4-616C/G between PNE patients and healthy controls. The frequency of haplotype LCT consisting of 3 function polymorphic sites DRD4-1240L/S, -616C/G and -521C/T in PNE patients was statistically higher than that in healthy controls (x2=5.88, P<0.05).</p><p><b>CONCLUSIONS</b>The change of C to G of DRD4-616 may affect the induction and transcription of DRD4 gene. The haplotype LCT consisting of 3 function polymorphic sites DRD4-1240L/S, -616C/G and -521C/T may synergistically inhibit the transcription activity of DRD4 gene. This might lead to a reduction of DRD4 protein expression and cause nocturnal enuresis.</p>