Objective To determine LDLR gene mutation in 2 clinically diagnosed FH patients from Hubei province and provide basis for gene diagnosis of FH.Methods Clinical data of 2 FH patients and their parents were collected.The promoter region and exon 1 to exon 18 region of LDLR gene were amplified through PCR and the amplified products were analyzed by forward and reverse DNA sequencing.The mutations were identified after comparison with LDLR gene sequence in GenBank.The pathogenic gene mutations were confirmed according to both genotype and phenotype of FH probands.Results The levels of plasma TC of two probands were 12.79 and 11.98 mmol/L.respectively.No gene mutations were detected in region 3 500 to 3 531 of ApoB100. The mutations of LDLR gene were compound heterozygous mutations. The novel mutation 665G > T detected in the exon 4 of No. 1 proband's LDLR gene was heterozygous missense mutation. The novel mutation 1 358 +32C > T was detected in the exon 9 of No. 1 proband's LDLR gene.The mutations 665G > T ( paternal origin) and 1 358 + 32C > T ( maternal origin) were inherited from the parents. A novel mutation 1 257 C > A was detected in the exon 9 of No. 2 proband's LDLR gene, resulting the presence of a premature termination codon, which was different from 1 257 C > G reported in Belgium.Another heterozygous missense mutation 1 879 G > A was detected in exon 13. They were derived from paternal origin and maternal origin, respectively. Conclusions There are three novel gene mutations:665G >T, 1 358 +32C > T, 1 257C > A found in two probands with compound heterozygous mutations in LDLR respectively. They maybe play a potential role in FH pathogensis.

Objective To analyze changes of three periodical circulation systems,erythrocyte sedimentation rate and bone marrow cell morphology in children with malaria.Methods The routine tests of hematology by Sysmex KX-21 Counter, erythrocyte sedimentation rate by Westergren method and bone marrow cell morphology were analyzed. Results In 22 cases of malaria the ratio of Hb level below 110 g/L,WBC below 4?10~9/L and PLT below 100?10~9/L was 68.2%, 41.0%, and 77.3%,respectively. The ratio of children with all three parameters (Hb, WBC and PLT) abnormal was 36.4%, with two parameters abnormal was 63.6%. Ninty-five point five percent of malaria children′s erythrocyte sedimentation rate was abnormal. Fifty-nine point one percent of malaria children had hyperplasia anemia bone marrow morphology, 77.3% secondary thrombocytopenia and 54.5% with both of two bone marrow morphology.Conclusions Three periodical circulation systems of malaria children alter notably, especially in PLT and Hb. The majority has erythrocyte sedimentation rate abnormal, and bone marrow cell morphology shows hyperplasia anemia and thrombocytopenia.

OBJECTIVETo study the imprinting status of IGF2 and phenotypes of loss of imprinting (LOI) in cord blood of neonates of Chinese Han population and to investigate relative factors to LOI.

METHODSCord blood of 1010 Chinese Han newborns were collected and the imprinting status of IGF2 was detected by reverse transcription-PCR(RT-PCR) and restriction fragment length polymorphism.The relationships between LOI and fetal growth indices, features of parents and grandparents, clinical characteristics were analyzed.

RESULTSOf all cases, 42.8% (432/1010) were heterozygous for a polymorphism of Apa I site in exon 9 of IGF2, while 21.6%(66/306) displayed IGF2 LOI. Maternal factors including average age, gestational age, BMI pre-pregnancy, weight gain during pregnancy and the level of HB, HCT, and other indices of biochemistry in their second and third trimester were not correlated with LOI expression. However in newborns with fathers older than 35 yrs, 31.7%(19/60) displayed LOI, which was significantly more common than that in newborns with younger fathers (P< 0.05, chi square is 4.69). There were no difference in birth weight (BW) between normal imprinting and LOI groups. But if the newborn's weights were in 2500-2999 g, LOI was 6.25%(2/32), which was significantly lower than that in 3000 g group (P< 0.05, chi square is 4.89). In groups with BW being less than 2500 g and more than/equal to 4000 g, the LOI newborn's blood glucose was decreased significantly after 2 hrs (P< 0.01, t is 7.47 and 10.9).

CONCLUSIONIn newborns of Chinese Han population, 21.6% showed IGF2 LOI in cord blood. IGF2 LOI may have some influences on fetal growth. Paternal age is associated with LOI.

Asian Continental Ancestry Group ; genetics ; China ; Female ; Fetal Blood ; metabolism ; Genomic Imprinting ; genetics ; Humans ; Infant, Newborn ; Insulin-Like Growth Factor II ; genetics ; Pregnancy ; Reverse Transcriptase Polymerase Chain Reaction

OBJECTIVETo study the atopy spectrum and its related factors in 1 to 3 years old children with allergic rhinitis.

METHODSNinety-six children with allergic rhinitis, aged between 1 and 3 years old, referred to ENT department of Beijing Children's Hospital between August 2009 and November 2010 were retrospectively reviewed. Data were recorded for patients' age, age stratification, sex, the age of first symptom, the duration of history, and the allergic history of children, the allergic history of parents. The screening tests on inhalant and food allergens were conducted by immunoblot assay using the Allergy Screen system. The total serum IgE level was also measured. The distribution of the inhalant and food allergens was summarized. The influence of the clinical characteristics was analyzed according to the age subgroup determined by month, allergen category and positiveness of eczema or asthma. Logistic regression was used to analyze the relationship of clinical characteristics and allergen spectrum.

RESULTSThe total positive rates of allergic screening test rate were 81.3%. The inhalant and food allergens were 62.5% and 53.1% respectively. The commonest allergy was mixed fungal (50.0%), followed by milk (34.4%), lamb (31.3%), beef (26.0%), dust mite (21.0%), wheat (18.8%), mugwort (12.5%), egg white or egg yolk (11.5%).62.5% of patients could be diagnosed as AR, the remaining could be diagnosed temporarily as non-allergic rhinitis temporarily. Single factor analysis of clinical characteristics in different subgroup determined by month showed that: inhalant allergen (positive/negative) (χ2=13.699, P=0.001), father suffered from AR (χ2=14.060, P=0.001), and father or mother suffered from AR (χ2=7.396, P=0.025) were statistically significant at three monthly age groups. The personal history of eczema (OR=3.143, P=0.034) might increase the possibility of sensitization to allergens. The personal history of eczema (OR=3.125, P=0.015) and the total serum IgE level>200 IU/ml (OR=3.119, P=0.030) might increase the possibility of sensitization to inhalant allergens. No clinical features for food allergen sensitization was statistically significant. There was no significant difference in positive rates between inhalant and food allergens groups. The presence of inhalant allergens (OR=3.594, P=0.046), insect bites dermatitis (OR=11.941, P=0.002) were the risk factors for positiveness of eczema or asthma, and the father with AR (OR=0.251, P=0.040) as protective factors.

CONCLUSIONSInhalant and food allergens all can be sensitized in the children with AR symptoms between 1 to 3 years old, and the positive rate of inhalant group is slightly higher. The differences of the inhalant allergen (positive/negative) and father suffered from AR are statistically significant at three monthly age groups. The history of eczema is the risk factor for allergen screening positive. Serum total IgE>200 IU/ml and eczema history are risk factors for inhalant allergen screening positive. The factors of inhalant allergens, insect bites dermatitis and father suffered from AR relate to any positive of eczema or asthma.

Allergens ; immunology ; Child, Preschool ; Female ; Humans ; Infant ; Male ; Retrospective Studies ; Rhinitis ; diagnosis ; epidemiology ; immunology

Objective To investigate the frequency of P16INK4a, CDK4 and CCND1 gene mutations in Chinese melanoma patients and to find out the potential clinical significance. Methods The samples in this study were collected from 134 melanoma patients(37 acral melanomas, 87 mucosal melanomas, 10 nonacral skin melanomas), hospitalized in Beijing Cancer Hospital from January 2010 to December 2014.The mutation status of P1 6INK4a, CDK4 and CCNDl was detected by PCR amplification and Sanger sequence. Statistical analyses were used to investigate the correlation between gene mutation and prognosis. Results Among 134 samples, the mutation frequency of P16INK4a, CDK4, CCNDl was 8.2％(11/134), 0.75％(1/134), 0％(0/134) respectively.81.8％ (9/11) of the P16INK4a gene mutation may affect protein function.The median survival time of melanoma patients with P16INK4a mutations was significantly shorter than the patients without Pl6INK4a mutations (X2 = 8.872, P＜0.01).P16INK4a gene mutation was an independent prognostic factor for melanoma (P＜0.05). Conclusions P16INK4a may be a breaking point of targeted therapy for melanoma.

Objective To screen the mutation of certain gene of a 10-years-old boy with multiple xanthomas and very high level of cholesterol who could be diagnosed as homozygous familial hypercholesterolemia (FH),to explore the relationship between the genotype and phenotype,and to discuss the molecular pathologic mechanism.Methods The basic information of life styles were asked from the boy and his familial members.The blood was drown to examine the lipid and genes.The boy was examined with electrocardiogram examination,ultrasonography and coronary CT angiography (CTA) to evaluate the degree of atherosclerosis.Peripheral blood DNA of the boy and his parents were extracted by phenol-chloroform method and investigated for mutations of promoter and all 18 exons of low density lipoprotein receptor(LDLR) gene.Screening was carried out by using Touch-down polymerase chain reaction (PCR) and single strand conformation polymorphism(PCR-SSCP),combined with DNA sequence analysis.In addition,the apolipoprotein B100 gene(apoB100) for known mutations (R3500Q) which caused familial defective apoB100 was screened by PCR-DNA sequence analysis.Results 1.The level of cholesterol of his parents were higher than the normal.2.Several clinical manifestations of atherosclerosis were detected from that boy.Increased intima-media thickness and plaques were detected in the common carotid artery.Mitral valve regurgitation was found by echocardiography.Coronary stenosis was confirmed by CTA.3.No mutations R3500Q of apoB100 was observed.4.A homozygous mutation in exon13 of the LDLR gene (D601Y) were identified in the boy and his parents harbour D601Y heterozygous mutation due to a single base pair substitution of G for T in the codon for residue 1864.Conclusions The final diagnosis of the boy with multiple xanthomas was homozygous FH.His disease was caused by D601Y homozygous mutation in exon13 of the LDLR gene inherited from his heterozygous parents.

Objective To study the distribution of sleep duration in mid－pregnancy women and examine its association with prehypertension ( PHT) ． Methods In the baseline survey of a prospective cohort study，943 women in mid－pregnancy were recruited in Guangzhou，China in 2017－2018． A standardized questionnaire was used to assess demographic characteristics，sleep duration and other lifestyles． We obtained maternal blood pressure values，weights，heights，and medical histories from medical records． Multivariate logistic regression was conducted to examine the association between sleep duration and PHT． Ｒesults The average daily sleep duration of women in mid －pregnancy was ( 10. 41 ± 1. 67 ) hours，and it was negatively related to age and educational level． Overall，98. 33% of pregnant women had a daily sleep duration ≥ 7 h and the distribution was related to passive smoking． The average night time sleep duration was ( 9. 48±1. 21 ) hours，and it was negatively related to age and educational level． The daytime sleep duration was ( 0. 93 ± 0. 69 ) hours，and it was positively associated with physical activity． The average bedtime was( 22 ∶ 42 ± 1．24) ，and it was positively associated with passive smoking． The prevalence of PHT was 9. 61%． We did not observe any significant association between sleep duration and PHT． Conclusions The mid－pregnancy women in Guangzhou had relatively long sleep duration， and it differed by maternal age，educational level，physical activity，and passive smoking． There was no significant association between sleep duration and PHT．

OBJECTIVETo investigate the clinical features, differential diagnosis and management of congenital stenosis of external auditory canal (CSEAC) with cholesteatoma.

METHODSThe clinical information for 10 cases of CSEAC with cholesteatoma was retrospectively reviewed.

RESULTSThe patients' ages ranged from 4.75 to 22 years (average 12 years). The diameter of the external auditory canal (EAC) was < 2 mm. All 10 ears had a history of postural fistulae or sinuses. Bone erosion of EAC was distinctly shown in high-resolution computed tomography (HRCT) of all cases, as well as soft tissue masses, which led to enlargement of the bony canals. All patients underwent canaloplasty; eight ears received hearing reconstructions at the same time. Cholesteatoma in EACs was confirmed during the operations, accompanied by compression and destruction of the post-superior and/or inferior bony wall. Postoperative pathologic examinations proved the diagnosis of cholesteatoma, and excluded any tissue of bronchial cleft cyst or fistula. After a follow-up 1 to 3 years, no recurrent cholesteatoma was found in any of the 10 cases. All reconstructed EACs were clean and smooth. The hearing levels in the eight ears that received hearing reconstructions improved 20 - 35 dBHL.

CONCLUSIONSIn CSEAC with cholesteatoma, the bony wall of EAC is most commonly involved. This involvement will lead to bone erosion of the EAC and may subsequently lead to the formation of postural or cervical sinuses. HRCT of temporal bone can show characteristic signs of soft tissue mass in EAC, with adjacent bone erosion.

Adolescent ; Child ; Child, Preschool ; Cholesteatoma ; complications ; diagnosis ; surgery ; Constriction, Pathologic ; congenital ; Cutaneous Fistula ; complications ; diagnosis ; surgery ; Ear Canal ; abnormalities ; Ear Diseases ; congenital ; diagnosis ; surgery ; Female ; Humans ; Male ; Retrospective Studies ; Young Adult

BACKGROUNDLiver transplantation has become the treatment of choice for patients with end-stage acute or chronic hepatic disease. Bile duct complications are common events after liver transplantation. The aim of this study was to evaluate the blood supply of the human bile duct and identify the underlying mechanisms of bile duct complications after liver transplantation.

METHODSThe duct supply branches from gastroduodenal artery and blood supply of extrahepatic bile duct system were re-evaluated through selective hepatic angiography from 600 patients. In addition, 33 cadavers were injected with latex casting material into the common hepatic artery, then the extrahepatic bile duct and the branches from the common hepatic artery were carefully dissected to visualize the gastroduodenal artery and its branching to the extrahepatic bile duct.

RESULTSThe bile duct artery arose from the branch of the gastroduodenal artery in 8.1% (49/600). Of these 49 individuals, the bile duct artery was supplied by the gastroduodenal artery (61.22%, 30/49), the proper hepatic artery (14.29%, 7/49), or both the gastroduodenal artery and the proper hepatic artery (24.49%, 12/49). In our study of 33 cadavers, the percentage that the bile duct artery arose from the gastroduodenal artery was 27.27%. The blood supply to the bile extrahepatic bile ducts was divided into different segments and formed longitudinal and arterial network anastomosed on the walls of the duct.

CONCLUSIONSThere is a close relationship between the duct supply branches from gastroduodenal artery and the blood supplying patterns of the extrahepatic bile duct system. In liver transplant surgery, the initial part of the gastroduodenal artery is preferred to be preserved in the donor liver. It is of great significance to improve the success rate of operation and reduce complications.

Adult ; Aged ; Aged, 80 and over ; Angiography ; Bile Ducts, Extrahepatic ; diagnostic imaging ; Female ; Hepatic Artery ; diagnostic imaging ; Humans ; Liver Transplantation ; Male ; Middle Aged

OBJECTIVETo study the association between the prevalence of overweight/obesity and copy number variations (CNVs) among Han, Uyghur, and Kazak children in Xinjiang, China.

METHODSThe kindergartens in Ili, Altay, and Karamay in Xinjiang were selected as research sites, and stratified cluster sampling was used to select the children aged 3-7 years. Body height and body weight were measured, and exfoliated buccal mucosa cells were collected. CNVplex® was used to measure the CNVs of FTO_1, IRX3_1, IRX3_2, MC4R_1, and MC4R_2.

RESULTSA total of 603 children were surveyed (307 boys and 296 girls). There were 261 Han children, 194 Uyghur children, and 148 Kazak children. The overweight/obesity rates in Han, Uyghur, and Kazak children were 28.3%, 10.3%, and 31.1%, respectively (P<0.001). In Kazak children, the CNVs of IRX3_1 and MC4R_2 were associated with overweight/obesity (P<0.05). The multivariate logistic regression analysis showed that the risk of overweight/obesity in Han and Kazak children was 3.443 times (95%CI: 2.016-5.880) and 3.924 times (95%CI: 2.199-7.001), respectively, that in Uyghur children. The CNV of IRX3_1 was a risk factor for overweight/obesity (P=0.028, OR=2.251, 95%CI: 1.418-5.651).

CONCLUSIONSThe CNV of IRX3_1 is associated with overweight/obesity in Han, Uyghur, and Kazak children, and the association between the CNV of IRX3_1 and overweight/obesity in Kazak children should be taken seriously.

Child ; Child, Preschool ; China ; ethnology ; DNA Copy Number Variations ; Female ; Homeodomain Proteins ; genetics ; Humans ; Logistic Models ; Male ; Obesity ; etiology ; genetics ; Overweight ; etiology ; genetics ; Risk Factors ; Transcription Factors ; genetics