Objective To study the incidence and prevalence in the children aged 1-2 years and 1-6 years with cerebral palsy(CP) in Qinghai province,and to identify the epidemiological characteristics and control status of the children with CP.Methods A stratified cluster random sampling method was used to conduct epidemiological survey of 10 000 children in Qinghai province.Children diagnosed as CP were asked to fill in the CP questionnaires,including children's development,and the status of prevention and treatment of CP.Compared with the children diagnosed as CP,4 healthy children at the same age were asked to fill in the questionnaires related to children's development.SPSS 15.0 statistical software was used for data analysis.Results Seven children with CP were diagnosed at the aged 1-2 years,and the total incidence rate was 3.3‰(7/2 148 cases).The incidence between the urban (0) and the rural areas (12‰) (7/582 cases) was significantly different(P =0.000 1),while there was no significant difference statistically between boys (5 cases) and girls (2 cases) (P ＞ 0.05).Fifty-four children with CP were diagnosed at the age of 1-6 years,and the total prevalence rate was 5.4‰(54/10 000 cases).The prevalence between the urban (2.3‰,17/7 348 cases) and the rural areas (13.9‰,37/2 652 cases) was statistically different (x2 =49.144,P ＜ 0.01),while there was no significant difference statistically between boys (31 cases) and girls (23 cases) (P ＞ 0.05).The proportions of various types of CP were as follows:29 cases(53.70％) of spastic type,9 cases(16.67％) of hypotonia,7 cases (12.96％) of mixed type,4 cases (7.41％) of ataxia,3 cases (5.56％) of rigidity and2 cases (3.70％) of dyskinetic,respectively.Among the spastic types,there were 16 cases (55.17％)of spastic quadriplegia,6 cases (20.69％) of spastic hemiplegia,4 cases (13.79 ％) of spastic diplegia,2 cases (6.89 ％) of spastic monoplegia and 1 case (3.45％) of spastic triplegia,respectively.The top three risk factors were premature (13 cases,24.1％),hypoxic-ischemic encephalopathy (9 cases,16.7％) and maternal threatened abortion (8 cases,14.8％).The first three complications were mental retardation,language dysfunction and epilepsy.Conclusions The incidence and prevalence of CP in children in Qinghai province are very high,which is higher in the rural areas than that in the urban areas.The most common CP is spastic type.The main risk factors for CP are preterm labor,hypoxic-ischemic encephalopathy and maternal threatened abortion.Intellectual disability,speech disability and epilepsy are the most common complications of CP.Maternal and perinatal infant health care and early intervention need to be further strengthened.

OBJECTIVETo explore the molecular mechanism of a case of ABO discrepancies based on the results of blood group serology.

METHODSFive cases of the two-generation pedigrees were analyzed. ABO genotypes were determined using serological tests. DNA sequence analysis was performed on exon 6, exon 7 and intron 3 of the 5 cases to confirm the genotypes of a proband with B subgroup and 4 family members.

RESULTSThere were 3 cases of subgroup AB3 and 1 case of subgroup B3 among the 5 family members. The genotypes were identified as A102/B303 and O02/B303, respectively. B303 differed from B101 by intron 3 point mutation (intron3 + 5G>A).

CONCLUSIONThe point mutation of intron 3 (intron 3+5G>A) is specific in B303.

OBJECTIVE: To explore the serological feature and molecular mechanism for a case with A307 subgroup of the ABO blood group system. METHODS: Serological assay was carried out to determine the ABO blood group of the proband and his family members. Genotypes for exons 1 to 7 of the ABO gene were determined with sequence-specific primer polymerase chain reaction (SSP-PCR) and direct sequencing. The impact of the variant on the stability of alpha-1,3-N-acetylgalactosaminyltransferase (GTA) was predicted through construction of a 3D molecular model. RESULTS: The proband, his brother and daughter were diagnosed with Aend phenotype by serological analysis. Their ABO genotype was determined as A307/O02, with heterozygous c.467C>T (p.P156L) and c.745C>T (p.R249W) variants identified in exon 7 of the ABO gene. Molecular modeling suggested that the p.R249W variant may alter the number of hydrogen bonds between the amino acids. The protein was predicted to have a decreased Δ Δ G value of thermodynamic stability. CONCLUSION The p.R249W variant may give rise to the A307 subgroup by reducing the stability of the GTA enzyme, leading to serological features of Aend phenotype.

Objective To evaluate the safety and mid- to long-term efficacy of surgical correction of isolated partial anomalous pulmonary venous connection (IPAPVC). Methods We retrospectively collected consecutive patients who were diagnosed with IPAPVC and underwent surgical correction at Fuwai Hospital of Chinese Academy of Medical Sciences and Fuwai Yunnan Cardiovascular Hospital from June 2009 to May 2019, summarized the basic preoperative and intraoperative data of patients, analyzed the postoperative and mid- to long-term follow-up results. Results A total of 54 patients were enrolled, including 29 males and 25 females, with an average age of 16.20±2.40 years, ranging from 1 month to 62 years. There were 28 (51.9%) patients with varying degrees of arrhythmia, 22 (40.7%) patients with cardiac insufficiency, and 39 (72.2%) patients with pulmonary hypertension. According to Bordy's typing, 14 (25.9%) patients were classified as type A, 23 (42.6%) type B, 4 (7.4%) type C, 5 (9.3%) type D and 8 (14.8%) mixed type. Transthoracic echocardiography was performed in the whole group of patients and the accuracy of staging diagnosis was 66.7% (36/54), and cardiac CT angiography (CTA) was performed in 37 patients and the accuracy of staging diagnosis was 94.6% (35/37). All surgical procedures were assisted with cardiopulmonary bypass, aortic cross-clamping time was 0-219 (67.02±5.23) min, cardiopulmonary bypass time was 40-261 (105.09±5.23) min, and there was no serious intraoperative complication. Postoperative tracheal intubation time was 0-230 (13.33±4.20) h, intensive care unit stay was 0-13 (1.89±0.28) days, postoperative hospital stay was 5-18 (7.20±0.38) days, and follow-up time was 16-140 (62.58±5.12) months. There were 2 (3.7%) all-cause postoperative deaths, including 1 in-hospital death and 1 death during the follow-up, and there was no intraoperative death. Among the survivors, there were 3 patients with surgery-related complications: 1 patient had atrial septal defect with the second surgical treatment, 1 early obstruction of the superior vena cava and 1 arrhythmia. Two patients had complications of IPAPVC (atrial fibrillation, collateral circulation) prior to surgery and underwent the second surgery with a poor prognosis, and 1 patient had preoperative cardiac insufficiency and atrial fibrillation, whose symptoms persisted for a long time during the follow-up. Conclusion IPAPVC accounts for a lower percentage of partial anomalous pulmonary venous connection, transthoracic echocardiography combined with CTA improves diagnostic accuracy, and IPAPVC should be treated with elective surgery after diagnosis. The surgical approach should be individualized with imaging features such as disease staging, number of drains and drainage location. Surgical treatment of IPAPVC is safe and effective, and regular follow-up is warranted.