Objective To discover the mutations of rare thalassemia genes by sequencing of α and β-globin genes,to understand the frequency of rare mutations and to enrich thalassemia gene mutation spectrum in Chinese population.Methods For the cases of phenotype and genotype inconsistent,the 1st generation of sequencing was performed for α or β-globin gene coding region sequence analysis.Results A total of 102 patients with rare thalassemia gene mutations were found by sequencing,including 79 cases of β-thalassemia with 35 kinds of mutant types,and 23 cases of α-thalassemia with 11 kinds of mutant types.Conclusion The thalassemia gene sequencing could reveal rare mutations in genes,identify the genotype of patients,provide important support for prenatal diagnosis of rare thalassemia families,and reduce the missing rate and birth rate of children with thalassemia.

Objective To investigate the effects of azithromycin on serum indicators, urine indicators, renal pathology, intercellular adhesion molecule-1 (ICAM-1), nephrin and podocalyxin in adriamycin(ADR)-induced nephropathy(ADN) rats. Methods ADR nephropathy was induced by a tail intravenous injection of ADR. The rats were randomly divided into azithromycin-treated group, prednisone -treated group, integrated treatment group, model group and control group. Serum index and 24 h urine protein were measured serially at 0, 4th, 8th weeks. The values of creatinine clearance (Ccr) were calculated. Kidney tissues were collected for microscopy observation. The expressions of nephrin, podocalyxin and ICAM-1 in renal tissue were detected by immunohistochemistry SP. Results Compared with normal control group, at the 4th week, 24 hours urine protein and albumin reached the level of ADR nephropathy model. Compared with model group, at the 8th week, 24 h urine protein, cholesterol, serum creatinine, renal pathology changes in the three treated group rats were significantly reduced (P<0.05), serum total protein, albumin and Ccr (except C group) significantly raised (P<0.05), ECM/GA and renal pathology score significantly reduced (P<0.01), ICAM-1 significantly decreased (P<0.01), nephrin and podocalyxin significantly increased. Besides, the curative effect of integrated treatment was better than other treatment group. Conclusions Azithromycin induces similar responses in ADR nephropathy as prednisone, but its early protective effect of renal function is worse than prednisone.The integrated treatment of azithromycin and prednisone has a synergistic effect, and the efficacy is superior to each drug alone.

Objective:To investigate the levels of periphreal blood free carnitine and amino acids in healthy pregnant women in the third trimester and their association with maternal, fetal, and neonatal cardiac function and structure.Methods:This prospective descriptive study included healthy singleton pregnancies who underwent routine obstetric examination and delivered in two district maternal and child health hospitals (one in the urban and one in the suburb an area) in Beijing from June 2017 to February 2018. All recruiters had serology Down's syndrome screening test at (18±1) gestational weeks. Besides measurement of amino acids and free carnitine levels in whole blood and urine samples by liquid chromatography-tandem mass spectrometry, all cases underwent maternal and fetal echocardiography at (35±1) weeks of gestation. And neonatal echocardiography was performed after delivery to assess the heart function and structure. Antenatal factors were also collected, including maternal education background, age at first marriage and conception, gravidity, and folic acid supplement in early pregnancy. Statistical analysis was performed using t-test, ANOVA, Chi-square test, Pearson correlation coefficient, and Kappa test. Results:A total of 493 mother-neonate dyads were enrolled in this study. Blood free carnitine levels in the healthy pregnant women in the third trimester ranged from 5.09 to 59.17 μmol/L (reference value: 10.00-50.00 μmol/L) with an average value of (13.03±3.87) μmol/L. None was found with structural abnormalities by cardiac ultrasound, showing an average left ventricular end diastolic diameter (LVEDD) and end systolic diameter (LVESD) of (45.70±3.08) mm and (29.17±3.12) mm, respectively, and left ventricular ejection fraction (LVEF) of all cases were over 55%. No cardiac malformation was detected by the third-trimester fetal echocardiography. The average birth weight of the 493 newborns was (3 340±313) g. Those whose birth weight <2 500 g and >4 000 g were accounted for 1.0% (5 cases) and 3.0% (15 cases) with the average maternal blood free carnitine level of (13.25±2.17) μmol/L (10.46-19.21 μmol/L) and (12.64±2.50) μmol/L (8.78-17.73 μmol/L) ( t=0.42, P>0.05). The average LVEDD and LVESD of the 493 newborns were (17.21±1.27) mm and (11.03±1.30) mm, respectively. For the 64 newborns (13.0%) whose LVEF<60%, the maternal blood free carnitine level was (12.93±2.78) μmol/L (7.34-22.13 μmol/L), showing no statistical difference ( t=-0.29, P>0.05) with those 59 neonates (12.0%) whose LVEF over 75% and maternal carnitine level of (13.09±3.24) μmol/L (8.66-27.49 μmol/L). All cases were divided into four groups based on the quartiles of maternal blood free carnitine level and no significant difference in maternal or neonatal LVEDD or LVEF was observed among these groups (all P>0.05). Conclusions:Blood free carnitine concentration in healthy pregnant women in the third trimester is at the lower limit of normal range, and no significant effect on maternal cardiac function and fetal cardiac structure is seen. However, the effect of low maternal carnitine level in the third trimester on children's myocardial function and whether carnitine should be supplemented in the third trimester are worthy of further investigation with larger sample size.

Objective To explore rules of changes in velocity of ultrasound wave transmission at the tibia and radius by a quantitative bone mineral density ultrasound scanner in examination of early incipient rickets in infants and its significance in clinical diagnosis.Methods One hundred and fifty-seven infants who visited child health-care clinic of the Capital Institute of Pediatrics,Beijing during May 2004 to December 2007 and clinically diagnosed as rickets according to the Criteria of Diagnosis for Rickets in Infants and Young Children formulated in 1986 by the Ministry of Health,as well as 124 normal healthy infants as controls,were enrolled in the study and followed-up for three months.Velocity of ultrasound wave transmission at the tibia and radius in all the infants were measured by a bone mineral density ultrasound scanner (Sunlight Omnisense 7000R made in Israel).Results One hundred and fifty-seven infants were clinically diagnosed as rickets,127 of them undergone with carpal plane roentgenography and 90 of the 127 with positive change in bone x-ray imaging and 37 without it.Velocity of ultrasound wave transmission at the tibia and radius measured by z-score was significantly lower in infants with clinically diagnosed rickets than that in healthy controls (Z-values of-10.411 and-10.399 at the tibia and-5.646 and-5.517 at the radius,respectively,P = 0.000 with Mann-Whitney test).Velocity of ultrasound wave transmission at the tibia and radius measured by z-score was lower in those with positive change in x-my imaging than that in those without it,but not reaching a level of statistically significant difference.Velocity of ultrasound wave transmission and z-score correlated positively with change in bone x-ray imaging,respectively with Spearman coefficients of correlation of 0.581 and 0.677 for tibia,0.316 and 0.467 for radius (P = 0.000).Receiver operating characteristic (ROC) curve was drawn from those with rickets and positive left carpal plane roetgenograph.Area under curve of ROC for z-score of velocity of ultrasound wave transmission at the tibia was 0.812 and 0.799 (95% CI 0.758-0.856 and 0.742-0.855,P =0.000),respectively.Area under ROC curve of z-score of velocity of ultrasound wave transmission at the radius was 0.715 and 0.697 (95% CI 0.650-0.780,0.631-0.764,P =0.000),respectively.Cut-off value of z-score was-205--1.95 at the tibia,according to the largest sensitivity and the least false-positivity,with sensibility of 0.8 to 0.9 and specificity of 0.733 to 0.702.As its sensitivity at the radius was more than 0.7,its specificity was lower than 0.524.Conclusions Quantitative ultrasound scanning can be used to detect insufficient bone mineral density in infants and their early skeletal change by rickets but without change in bone x-ray imaging.Velocity of ultrasound wave transmission at the tibia can be used as an indicator to predict early rickets in infants rather than its severity.

Objective To investigate the effects of three-level comprehensive interventionof family, community and society on physical and mental health of empty nest disabled elderly. Methods From February 2017 to July 2017, the empty nest elderly aged more than 75 years old and daily life ability scale score ≥14 from two communities under 10 community health service centers directly subordinate toTangshanWorker's Hospital and Hongci Hospital were randomly selected, thenthey were divided into theintervention group andthe control group with 50 persons each. The control group was given blank control, and the intervention group was given a 6-month intervention based on the theory of healthy ecology. The intervention consisted of threes-level of family, community and society, each aspect included four aspects such as daily life, environmental safety, medical care and spiritual comfort. Six months later, the Health Promotion Lifestyle Scale, the Comprehensive Frailty Assessment Instrument, Loneliness Scale, Perceived Social Support from Family Scale, Social Support Rating Scale, Activityof Daily Living Scalewere used to evaluate. Results Sixmonths later, the scores of health promotion behavior (114.44± 6.14), family support (9.16 ± 0.93) and social support (30.06 ± 1.48) in the intervention group were higher than those in the control group(t=45.363, 21.672, 64.046, P<0.01); the scores of frailty(35.96 ± 3.71), loneliness (34.94 ± 4.13) and ADL (20.88 ± 1.49) in the intervention group were lower than those before intervention (t=28.946,-31.295,-18.886, P<0.01). Conclusions Thecomprehensive intervention in three-level of family, community and society based on the theory of ecology health can improve the support of empty nest disabled elderly, reduce loneliness and weakness, improve the health promotion behavior and daily life ability of empty nest elderly, and promote physical and mental health.

Objective To evaluate the effectiveness and safety of leuprolide acetate in the treatment of endometriosis. Methods From Nov. 2007 to Oct. 2012, the patients who confirmed to be endometriosis were randomly divided into test group of 113 cases and control group of 116 cases. The test drug was the sustained-release agent of leuprolide acetate. The control drug was Enantone. The drugs were used for 3 times in total. After treatment, the ovarian mass volumes measured with type-B ultrasound, the scores of the patient′s subjective symptoms during non-menstrual and menstruation days, the pelvic signs during non-menstrual days, the changes of hormones [estradiol (E2), FSH, LH], and adverse events were observed. Results After the treatment, the rate of changes of ovarian mass volume (among them, at 12 weeks after the first injection, the median was -55.83% in the test group, -68.22% in the control group, P=0.336), the distinct improvement rate of symptom scores and pelvic signs during non-menstrual days [among them, at 12 weeks after the first injection, the rate of lower abdomen pain was 47.5%(48/101) in the test group, 44.0%(44/100) in the control group, P=0.881], the hormone (E2, FSH, LH) levels [among them, at 12 weeks after the first injection, the serum level of E2, was (33±38) pmol/L in the test group, (38± 40) pmol/L in the control group, P=0.414;the serum level of FSH, was (5.1±2.8) U/L in the test group, (5.3± 2.3) U/L in the control group, P=0.666;the serum level of LH, was (0.6±0.8) U/L in the test group, (0.6±0.9) U/L in the control group, P=0.907], had no statistically significant difference between the two groups (all P>0.05). The distinct improvement rate and improvement rate of symptom (lower abdomen pain, low back pain) scores during menstruation days at 12 weeks after the first injection, the rates of lower abdomen pain were 73.9%(34/46), 15.2%(7/46) respectively in the test group, 72.3%(34/47), 2.1%(1/47) respectively in the control group, had statistically significant difference between the two groups (P=0.026). There was no serious adverse event occurred in both two groups. The incidence rate of adverse event was 33.6%(38/113) in test group, 23.2% (27/116) in control group, there was no significant difference between the two groups (P=0.082). Conclusion Leuprolide acetate is effective and safe in the treatment of endometriosis.

Objective: Using previous total mesorectal excision with pelvic autonomic nerve preservation (PANP+TME) and simple total mesorectal excision (TME) without emphasis on retained nerves as control, we explore the advantages of nerve plane-oriented laparoscopic total mesorectal excision (NPO+LTME) on urinary and sexual function. Methods: A retrospective cohort study was carried out. Case inclusion criteria: (1) male patients with pathologically confirmed middle and low rectal adenocarcinoma (4 to 11 cm from the anus); (2) stage T1-2tumor; (3) normal sexual life before operation. Exclusion criteria: (1) no pathological diagnosis before surgery; (2) local recurrence or distant metastasis; (3) preoperative neoadjuvant chemoradiotherapy; (4) opensurgery and laparoscopic surgery conversionto open; (5) no follow-up data. According to the above criteria, clinical data of 173 male patients with low and middle rectal adenocarcinoma who underwent radical operation for laparoscopic rectal cancer from July 2003 to July 2018 at the Department of Gastrointestinal Surgery, Wuhan University People′s Hospital were collected. According to different surgical methods, patients were divided into TME group (58 cases), PANP+TME group (63 cases) and NPO+LTME group (52 cases). There were no significant differences in the baseline data including age, body mass index and pathological examination between the 3 groups (all P>0.05). The nerve plane referred to the nerve, the adipose tissue, the extremely finecapillaries around the nerve with overlying fine membranous tissue. NPO+LTME referred to the process of laparoscopic TME guided by the nerve plane, performing in the loose connective tissue between the nerve plane and the rectal properfascia, in order to ensure the integrity of the nerve plane, and maximally protect the patient's urinary and reproductive functions. The operation time, intraoperative blood loss, urinary catheter removal time, urinary function grading, postoperative first erection time, and erectile function and ejaculation function were observed and compared among the 3 groups at 3- and 6-month after operation. Results: In the NPO+LTME group, the PANP+TME group and the TME group, the operation time was (181.9±24.5) minutes, (176.7±29.2) minutes and (137.7±16.2) minutes, respectively (F=54.868, P<0.001); the intraoperative blood lost was (6.0±1.4) ml, (6.5±1.8) ml and (12.8±4.6) ml, respectively (F=95.016, P<0.001); the time to postoperative removal of the catheter was (2.4±1.1) days, (3.7 ±1.7) days and (6.5±2.4) days, respectively (F=79.409, P<0.001); the first postoperative erection time was (1.6±0.6) days, (8.9±2.7) days and (15.9±6.8) days (F=177.677, P<0.001), respectively, whose differences were all statistically significant (all P<0.01). In comparison of urinary function grading, the proportion of grade I (normal function, no urinary dysfunction) in the NPO+LTME, the ANP+TME group and the TME group was 84.1% (53/63), 39.7% (23/58) and 19.2% (10/52), respectively, and the difference was statistically significant (H=52.915, P<0.001). At postoperative 3- and 6-month, proportion of patients with grade I erectile function (normal erectile function) was 77.8% (49/63) and 85.7% (54/63), 44.8% (26/58) and 53.4% (31/58), 28.8% (15/52) and 48.1% (25/52) in the NPO+LTME group, the PANP+TME group, and the TME group, respectively. The differences were statistically significant (H=91.709, P<0.001; H=79.692, P<0.001). The proportion of patients with grade I ejaculation function (with ejaculation, no abnormalities in routine semen examination before and after surgery) at 3- and 6-month after surgery in the NPO+LTME group, the PANP+TME group and the TME group was 82.5% (52/63) and 87.3% (55/63), 53.4% (31/58) and 60.3% (35/58), 28.8% (15/52) and 46.1% (24/52), respectively. The differences were statistically significant as well (H=86.543, P<0.001; H=78.667, P<0.001). Patients in the NPO+LTME group had no grade III erections and ejaculation disorders. Conclusion The surgical procedure of NPO+LTME can promote the recovery of postoperative neurological function and preserve urination and sexual function better.

Objective To explore the efficacy and safety of high-dose second-generation fat emulsion usage on the very low birth weight premature infants.Methods A total of 88 premature infants with very low birth weight (VLBW) in Neonatal Intensive Care Unit (NICU)of Fujian Provincial Maternity and Children Hospital,Affiliated Hospital of Fujian Medical University from December 2013 to December 2014 were randomly divided into experimental group and control group,with 44 cases in each group according to the table of random number.The experimental group received intravenous nutrition with 200 g/L second-generation fat emulsion within 24 hours after birth,the initial dose was 2.0 g/(kg · d) with an increase of (0.5-1.0) g/(kg · d) daily,the maximum dose was 3.5 g/(kg · d);the control group received intravenous nutrition with 200 g/L second-generation fat emulsion 24 hours later after birth,the initial dose was 0.5 g/(kg · d) with an increase of 0.5 g/(kg · d) daily,the maximum dose was 3.5 g/(kg · d).The other intravenous nutrition methods were same.The general conditions at birth,blood biochemical parameters,growth parameters and complications were compared between the 2 groups.Results The mean value of intravenous nutrition duration,length of stay,the glucose infusion rates of postnatal days 6 and 7,the serum triglyceride levels of postnatal days 7,chest circumference of the fourth weeks,the incidence of the low triiodothyronine(T3) syndrome and parenteral nutrition associated cholestasis(PNAC) were (22.27 ± 7.17) d,(37.75 ± 12.28) d,(8.10 ± 0.92) mg/(kg · min),(8.49 ± 1.06) mg/(kg · min),0.18(0.03-0.59) mmol/L and (27.21 ± 1.62) cm in the experimental group respectively,but (27.36 ± 11.37) d,(44.36 ± 16.45) d,(7.98 ±0.79) mg/(kg · min),(8.22 ±0.76) mg/(kg · min),0.28 (0.07-0.99) mmol/L and (26.56 ± 0.96) cm in the control group,respectively,and the differences were statistically significant between the 2 groups (t =2.512,5.403,4.314,9.705,696.500,6.668,all P ＜ 0.05).The incidence of the T3 syndrome and parenteral nutrition associated cholestasis (PNAC) in the experimental group was 25.0％ (11/44 cases) and 0(0/44 cases),respectively,which were significantly lower than those in the control group[81.8％ (36/44 cases)and 9.1％ (4/44 cases)],and the differences were statistically significant between the 2 groups (x2 =28.542,5.736,all P ＜ 0.05).The 2 groups had no significant difference in the incidence rates of other complications such as necrotizing enterocolitis,infection,retinopathy of prematurity,bronchopulmonary dysplasia,and the duration of oxygen therapy and mechanical ventilation(all P ＞ 0.05).Conclusions The high-dose second-generation fat emulsion usage [the initial dose 2.0 g/(kg · d)] in VLBW infants is safe and well tolerated.Advisable parenteral nutrition support strategy can promote growth of VLBW infants,shorten the intravenous nutrition duration and length of stay,reduce the incidence of the low T3 syndrome and PNAC,which has no influence on the incidence rates of other complications.

Objectives To explore the nutritional status of vitamin A in healthy children and children with respiratory infection symptoms, and its correlation with hemoglobin levels. Methods Health children who lived in Beijing for over half year during December 2014 to August 2015 were included. Serum retinol and peripheral blood hemoglobin were measured. The relationship of vitamin A nutritional status with age, respiratory tract infection and anemia were analyzed. Results A total of 1742 children (1056 males and 686 females) with a median age of 3.1 years (6 months~17 years) were enrolled. 202 children had respiratory tract infection and 1540 children didn't have respiratory tract infection when visiting. The median serum retinol level was 0.29 mg/L (0.25~0.33 mg/L) in all children. The level of retinol in children with respiratory tract symptoms was significantly lower than that in children without respiratory symptoms (P<0.001). The prevalence of subclinical vitamin A deficiency and suspected subclinical deficiency were 5.8% and 47.9% respectively. The prevalence of both the subclinical and suspected subclinical vitamin A deficiency ratios were >50% in children under 9-year-old. The prevalence of subclinical vitamin A deficiency and suspected subclinical deficiency among different age groups were statistically different (P<0.001). The incidence of anemia in subclinical vitamin A deficiency, suspected subclinical deficiency children and normal children were 3.9%, 8.7%, and 10.8% respectively, and The differences were statistically significant (P<0.01). Serum retinol and hemoglobin concentrations were positively correlated with age (r=0.179 or 0.571, P all < 0.001). Furthermore, serum retinol was positively correlated with the concentration of hemoglobin (r=0.244, P<0.001). Conclusions Serum retinol level in children with respiratory infection is lower than that in healthy children. Vitamin A deficiency was associated with anemia.

Objective:To investigate the clinical characteristics and prognostic factors of 2019 novel coronavirus (2019-nCoV) Omicron variant infected cases.Methods:A total of 987 coronavirus disease 2019 (COVID-19) adult imported cases admitted to Shanghai Public Health Clinical Center, Fudan University from July 1, 2021 to January 6, 2022 were recruited. The cases were divided into Omicron group (193 cases) and non-Omicron group (794 cases) according to the genotype of the virus. The clinical data, imaging examination and laboratory results of two groups were collected and compared. Chi-square test and Mann-Whitney U test were used as statistical methods. Multiple linear regression analysis was used for multiple linear regression analysis. Results:The majority of patients in Omicron group were 18 to 30 years old, accounting for 51.3%(99/193), which was higher than 31.4%(249/794) in non-Omicron group. The difference was statistically significant ( χ2=52.75, P<0.001). The proportion of mild cases in Omicron group was 88.6%(171/193), which was higher than 81.6%(648/794) in non-Omicron group. The difference was statistically significant ( χ2=5.37, P=0.021). Cases with symptoms were more common in Omicron group than those in non-Omicron group (60.1%(116/193) vs 29.1%(231/794)), and the difference was statistically significant ( χ2=65.49, P<0.001), with the main clinical manifestations of sore/itchy throat, fever and cough/expectoration. The proportion of cases with pulmonary computed tomography (CT) imaging manifestations at admission in Omicron group was 13.0%(25/193), which was lower than that in non-Omicron group (215/794, 27.1%). The difference was statistically significant ( χ2=16.83, P<0.001). The proportion of cases with 2019-nCoV IgG positive at admission was 47.7%(92/193) in Omicron group, which was lower than 61.1%(485/794) in non-Omicron group, and the difference was statistically significant ( χ2=11.51, P<0.001). The hospitalization time of Omicron group was 20.0 (16.0, 23.0) d, which was longer than that of non-Omicron group (14.0 (10.0, 22.0) d), and the difference was statistically significant ( Z=-7.42, P<0.001). Multiple linear regression analysis showed that the time of hospitalization of cases with 2019-nCoV IgG positive at admission was shorter, while that of the cases with fever in Omicron group was longer (both P<0.050). Conclusions:The main clinical characteristics of cases with Omicron variant are fever and upper respiratory symptoms. Their pulmonary CT imaging manifestations are less, and the time of hospitalization is slightly longer. The time of hospitalization and the virus clearance time in Omicron variant infected cases with 2019-nCoV IgG positive at admission and not presented with fever are both shorter.