Clinical features and FGFR3 mutations of children with achondroplasia / 中国当代儿科杂志

OBJECTIVES@#To study the clinical features and fibroblast growth factor receptor 3 (FGFR3) gene mutations of children with achondroplasia (ACH) through an analysis of 17 cases.@*METHODS@#A retrospective analysis was performed on the clinical data and FGFR3 gene detection results of 17 children with ACH who were diagnosed from January 2009 to October 2021.@*RESULTS@#Of the 17 children with ACH, common clinical manifestations included disproportionate short stature (100%, 17/17), macrocephaly (100%, 17/17), trident hand (82%, 14/17), and genu varum (88%, 15/17). The common imaging findings were rhizomelic shortening of the long bones (100%, 17/17) and narrowing of the lumbar intervertebral space (88%, 15/17). Major complications included skeletal dysplasia (100%, 17/17), middle ear dysfunction (82%, 14/17), motor/language developmental delay (88%, 15/17), chronic pain (59%, 10/17), sleep apnea (53%, 9/17), obesity (41%, 7/17), foramen magnum stenosis (35%, 6/17), and hydrocephalus (24%, 4/17). All 17 children (100%) had FGFR3 mutations, among whom 13 had c.1138G>A hotspot mutations of the FGFR3 gene, 2 had c.1138G>C mutations of the FGFR3 gene, and 2 had unreported mutations, with c.1252C>T mutations of the FGFR3 gene in one child and c.445+2_445+5delTAGG mutations of the FGFR3 gene in the other child.@*CONCLUSIONS@#This study identifies the unreported mutation sites of the FGFR3 gene, which extends the gene mutation spectrum of ACH. ACH is a progressive disease requiring lifelong management through multidisciplinary collaboration.

Association between risk factors during maternal pregnancy and the neonatal period and childhood bronchial asthma / 中国当代儿科杂志

<p><b>OBJECTIVE</b>To study the association of the risk factors during maternal pregnancy and the neonatal period with childhood bronchial asthma.</p><p><b>METHODS</b>A total of 306 children with asthma (asthma group) and 250 healthy children (control group) were enrolled. Their clinical data during the neonatal period and the maternal data during pregnancy were retrospectively studied.</p><p><b>RESULTS</b>The univariate analysis showed that there were significant differences in the rates of maternal use of antibiotics during pregnancy, use of antibiotics and probiotics during the neonatal period, preterm birth, cesarean section, low birth weight, and breast feeding (>6 months) between the asthma and control groups (P<0.05). The multivariate logistic regression analysis showed that use of antibiotics during pregnancy (OR=3.908, 95%CI: 1.277-11.962), use of antibiotics during neonatal period (OR=24.154, 95%CI: 7.864-74.183), preterm birth (OR=8.535, 95%CI: 2.733-26.652), and cesarean section (OR=4.588, 95%CI: 2.887-7.291) were independent risk factors for childhood asthma. The use of probiotics during the neonatal period (OR=0.014, 95%CI: 0.004-0.046) and breast feeding (>6 months) (OR=0.161, 95%CI: 0.103-0.253) were protective factors for childhood asthma.</p><p><b>CONCLUSIONS</b>The early prevention of childhood asthma can be improved by reducing the use of antibiotics during pregnancy, reducing cesarean section, avoiding abuse of antibiotics during the neonatal period, trying breast feeding and taking probiotics in early stage.</p>

Application of pulmonary function and fractional exhaled nitric oxide tests in the standardized management of bronchial asthma in children / 中国当代儿科杂志

<p><b>OBJECTIVE</b>To investigate the changes of pulmonary function and fractional exhaled nitric oxide (FeNO) in the standardized treatment of bronchial asthma in children.</p><p><b>METHODS</b>A total of 254 children who were newly diagnosed with acute exacerbation of bronchial asthma were selected as asthma group, and they were divided into two subgroups: asthma with concurrent rhinitis and asthma without concurrent rhinitis. All patients received the standardized management and treatment for one year. The pulmonary function parameters included forced expiratory volume in one second (FEV1), peak expiratory flow (PEF), maximal mid-expiratory flow (MMEF), and mid-expiratory flow at 25%, 50%, and 75% of vital capacity (MEF25, MEF50, and MEF75). The FeNO levels were measured before treatment and at 3, 6, 9, and 12 months after treatment. Another 62 healthy children were selected as the control group, and the pulmonary function and FeNO levels were measured only once.</p><p><b>RESULTS</b>During one year of standardized treatment, FEV1, PEF, MMEF, MEF25, MEF50, and MEF75 gradually increased, and FeNO levels gradually decreased (P<0.05). Indicators of large airway function, such as FEV1 and PEF, almost returned to normal after 6 months of treatment; indicators of small airway function, such as MMEF, MEF25, MEF50, and MEF75 almost returned to normal after 9 months of treatment; there were no significant differences in the above indices between the asthma group and the control group after one year of treatment (P>0.05). However, the asthma group had a significantly higher FeNO levels than the control group after one year of treatment (P<0.05). The asthmatic patients with concurrent rhinitis had significantly higher FeNO levels than those without concurrent rhinitis before treatment and 3 months after treatment (P<0.05). Before treatment, there was a significant negative correlation between FeNO levels and pulmonary function parameters (P<0.05).</p><p><b>CONCLUSIONS</b>With the standardized treatment of bronchial asthma in children, pulmonary function parameters gradually increase and FeNO levels gradually decrease. The recovery of large airway function occurs earlier than the recovery of small airway function. Furthermore, the effect of rhinitis on airway responsiveness should be noted.</p>

Clinical outcomes of twin pregnancies conceived by in vitro fertilization compared with spontaneous twin pregnancies / 中国当代儿科杂志

<p><b>OBJECTIVE</b>To compare the maternal and perinatal outcomes of twin pregnancies conceived by in vitro fertilization (IVF) with outcomes of spontaneous twin pregnancies.</p><p><b>METHODS</b>A retrospective analysis was conducted between January 2010 and April 2014 to investigate the maternal age, gestation length, modes of delivery, pregnancy complications and neonatal physical development, birth defects and perinatal diseases in 106 IVF-assisted twin pregnancies (IVF group) and 256 spontaneous twin pregnancies (control group).</p><p><b>RESULTS</b>The mothers in the IVF group were significantly older than those in the control group (32±4 years vs 28±4 years, P<0.05). The incidence rates of gestational hypertension and gestational diabetes in the IVF group were significantly higher than in the control group (P<0.05). No significant differences were observed for neonatal physical development, the incidence of birth defects, and the incidence and mortality of perinatal diseases (P>0.05).</p><p><b>CONCLUSIONS</b>Twins conceived by IVF have similar outcomes as spontaneously conceived twins in the perinatal period. However, special attention is needed to monitor the levels of blood pressure and blood glucose for pregnant women with twins conceived by IVF during prenatal checkups.</p>

Diagnositic value of trascranial sonography in detection of Parkinson disease / 中华医学超声杂志（电子版）

Objective To evaluate the clinical value of trascranial sonography (TCS) in measuring hyperechogenic substantia nigra ( SN) area and area ratio of SN to midbrain ( S/M) for the diagnosis of Parkinson′s disease( PD).Methods A total of 109 PD patients ( PD group) and 115 normal controls (control group) underwent TCS.The area of midbrain and SN and the area ratio of S/M were measured and compared between PD group and control group .Statistical analysis of the two parameters in predicting PD was performed with receive operating characteristic ( ROC) curves.The sensitivity and specificity of each parameter and their combination were calculated .Results The hyperechogenic SN area and S/M were (0.34 ±0.27)cm 2 and (12.15 ±4.57)%in PD group,whereas (0.14 ±0.08)cm 2 and (6.37 ±3.30)%in control group respectively .The difference between the two groups was statistically significant (t=82.68, 100.83,both P7.52%,the sensitivity was 80.4%and the specificity was 78.6%.Conclusions TCS is a fast, convenient,effective and useful tool for screening PD .The combination of the SN area and S/M provided the best diagnostic parameters.

Updated reproductive function of human sperm RNA / 中华男科学杂志

The existence of RNA has been confirmed in human mature sperm, including mRNA and some members of the microRNA family. Different expressions of sperm mRNA have been found to be correlated with sperm motility and male reproduction. Some sperm specific mRNA and microNA play important roles in the regulation of sperm-oocyte fusion and early embryogenesis. Many published results indicate the variety of sperm RNA in composition and quantity as well as its indispensability for embryogenesis. Further researches on the function of sperm RNA will promote the progress in such fields as male infertility, human assisted reproduction technology and nuclear transfer.

Role of contrast-enhanced ultrasound in management of splenic trauma / 中国医学科学院学报

<p><b>OBJECTIVE</b>To study the role of contrast-enhanced ultrasound (CEUS) in the management of splenic trauma</p><p><b>METHODS</b>Forty patients with splenic trauma underwent CEUS examination and then different management were provided according to the examination results and the general status of patients: conservative treatment (group I, n = 19); CEUS-guided injective therapy (group II, n = 6); and surgery (group III, n = 15).</p><p><b>RESULTS</b>Eighteen patients were cured in group I and one patient experienced rehaemorrhagia. The haemostatic effect of CEUS-guided injective therapy was obvious in all six patients in group II. Among them, one patient experienced arteriovenous fistula, which was resolved after one week of injective therapy. Fifteen patients in Group III underwent surgery and were cured.</p><p><b>CONCLUSION</b>CEUS can provide reliable information for therapy mode selection in patients with splenic trauma and can be used to guide injective therapy.</p>

A follow-up study on the efficacy of hepatitis B immunoglobulin combining hepatitis B vaccine in infants born to HBsAg positive mothers / 中华流行病学杂志

<p><b>OBJECTIVE</b>To study the efficacy of hepatitis B immunoglobulin (HBIG) combining hepatitis B vaccine in high risk infants born to HBsAg positive mothers through a follow-up study program.</p><p><b>METHODS</b>184 infants (4 twin pairs) born to HBsAg carrier mothers who were consecutively recruited from December 2002 to August 2004 were followed. Major HBV serologic markers in all infants were detected by enzyme-linked immunosorbent assay (ELISA) when they were at birth, at 7th, at 24th and at 36th months.</p><p><b>RESULTS</b>7 of the 184 infants were HBsAg positive at birth, making the transplacental intrauterine infection rate of HBV as 3.80% (7/184). 125 infants were followed up at 7th months and 108 infants were followed up at 24th and 36th months. Only 2 of the 7 infants born to HBsAg-positive and HBeAg-positive mothers were persistently sera positive for HBsAg, making the chronic infection rate of HBV as 28.57%. The other 140 infants were HBsAg negative during t he follow-up period. The rate o f detectable anti-HBs i ninfants was 7.02% at birth. After infants were immunized by HBIG combining hepatitis B vaccine, the anti-HBs-positive rate reached 92% at 7th months, and gradually descended thereafter. 72.04% of the infants at 24th and 60% at 36th months showed detectable levels of anti-HBs. There was significant correlation between the produce of anti-HBs in infants and HBsAg-positive at birth while HBsAg-positive and HBeAg-positive in mothers did not relate to the produce of anti-HBs in their infants. Of 39 infants born to HBsAg-positive and HBeAg-positive mothers, 25 showed detectable levels of HBeAg. During the follow-up peirod, HBeAg was still detectable in 2 infants who were also HBsAg positive and the others all became HBeAg-negative but no infant became HBeAg-positive.</p><p><b>CONCLUSION</b>The efficacy of HBIG combining hepatitis B vaccine in high risk infants was fine.</p>

Male infertility with severe oligospermatism and azoospermia treated by Bushen Shengjing Decoction combined with intracytoplasmic sperm injection / 中国中西医结合杂志

<p><b>OBJECTIVE</b>To observe the pregnancy promoting effect of Bushen Shengjing Decoction (BSSJD) combined with intracytoplasmic sperm injection (ICSI) in treating male infertility with severe oligospermatism and azoospermia (SOA).</p><p><b>METHODS</b>ICSI were applied on 164 patients, among them, the 82 assigned to the TCM group were treated with additionally by BSSJD before injection for 2-3 months, and the other 82 assigned to the control group received ICSI alone. The density, motility, viability and deformity of sperm; semen level of reactive oxygen species (ROS); number of eggs retrieved, M II eggs and mean transplanted fetus; rates of fertilization, cleavage, available embryo and clinical pregnancy in the two groups were observed and compared.</p><p><b>RESULTS</b>Compared with those in the control group, the density, motility and viability of sperm were higher, the deformity rate and ROS level were lower in the TCM group respectively (P<0.05). Moreover, higher rates of fertilization and clinical pregnancy were also shown in the TCM group (P<0.05).</p><p><b>CONCLUSION</b>BSSJD has the effects of decreasing semen level of ROS and improving the quality of sperm. It is also helpful for the natural fertilization ability of patients with SOA and raise the viability of their sperm to increase the ovarian fertilization rate and clinical pregnancy rate in ICSI cycles.</p>

Effect of traditional Chinese herbs combined with low dose human menopausal gonadotropin applied in frozen-thawed embryo transfer / 中国结合医学杂志

<p><b>OBJECTIVE</b>To assess embryo implantation rate (IR) and pregnancy rate (PR) in women who received Bushen Wengong Decoction (BSWGD), a Chinese herbal formula, combined with low dose of human menopausal gonadotropin (hMG) prior to frozen-thawed embryo transfer (FET).</p><p><b>METHODS</b>A total of 262 subjects (674 transferred embryos) who received FET were analyzed retrospectively. In them, 122 women were under 30 years old, 106 between 30 - 35 years and 32 over 35 years. The 85 subjects with normal ovulation were assigned to Group A, the natural menstruation cycling group, on whom no pre-transfer treatment was applied. The other 177 subjects with abnormal ovulation were assigned to Group B, and subdivided, according to the pre-transfer treatment they received, into three groups, Group B1 (50 cases) received BSWGD, Group B2 (58 cases) received hMG and Group B3 (69 cases) received both BSWGD and low dose hMG. The IR and PR of FET in the four groups were compared, and the effect of the embryo cryotime on PR of FET were compared also. Besides, the influencing factors to FET were analyzed.</p><p><b>RESULTS</b>IR and PR were significantly higher in all age sects of Group B3 than those in Group A, showing significant difference (P< 0.05). IR and PR in subjects in age sects of <30 years and > 35 years in group B3 were significantly higher than those in Group B1 ( P<0.05), but no significant difference was shown in the two parameters between Group B 2 and Group B3 (P>0.05). PR in the subjects who received embryos with cryo-time of > 200 days was significantly lower than that in those with cryo-time of < 100 days ( P<0.05). Embryo cryo-time, endometrial thickness, use of BSWGD and use of hMG were of significance in FET ( P 0.05).</p><p><b>CONCLUSION</b>A programmed cycle of BSWGD combined with low dose of hMG could improve the embryo IR and PR of FET. Embryo cryo-time, endometrial thickness, and the use of BSWGD and hMG are of significance for FET.</p>

Secular trend of nosocomial pneumonia in an university hospital in Zhengzhou / 中华预防医学杂志

<p><b>OBJECTIVE</b>To investigate the secular trend of infection rate, risk factor exposure rates for nosocomial pneumonia (NP), and to evaluate the nosocomial infection surveillance and control programs efficacy in an university hospital from 1993 to 2000.</p><p><b>METHODS</b>All 126 665 hospitalized patients from 1993 to 2000 were studied for NP. The independent risk factors for NP were analyzed by using case-control study method and logistic regression technique. The time-specific rates for NP and risk factor exposure were calculated annually.</p><p><b>RESULTS</b>The infection rates for NP were decreased by 50% from 1.20% in 1993 to 0.60% in 2000. The logistic regression analysis showed that the independent risk factors for NP were immunosuppressive therapy (OR = 2.72), chemotherapy (OR = 2.17), cancer (OR = 1.45), chronic obstructive pulmonary disease (COPD, OR = 1.88), ICU (OR = 3.18), coma (OR = 3.26), tracheotomy (OR = 14.95), hemodialysis (OR = 5.12), bone or lumbar puncture (OR = 1.82). The time-trends for exposure rates of COPD and bone or lumbar puncture were slightly decreased, however those for the others and the synthetic risk factors were not changed significantly.</p><p><b>CONCLUSION</b>The infection rates for NP were significantly decreased in the case of no change for exposure rates of risk factors for NP, this suggests that the nosocomial infection surveillance and control programs were effective for lowering infection rate for NP in this hospital.</p>

Dynamic observation on serum sialic acid in nasopharyngeal carcinoma patients / 中华耳鼻咽喉头颈外科杂志

<p><b>OBJECTIVE</b>To discuss the diagnostic value and possibility to be a dynamic monitoring index of serum sialic acid (SA) in nasopharyngeal carcinoma (NPC) patients.</p><p><b>METHODS</b>Serum SA and Epstein-Barr virus-viral coat antigens-IgA (EBV-VCA-IgA) were detected in 50 cases of NPC before treatment, after clinical recovery and recurrence. Healthy adult and patients of benign lesions of head and neck were also detected as controls.</p><p><b>RESULTS</b>SA and EBV-VCA-IgA were positively related significantly in different periods of NPC patients. SA was significantly varied dynamically before and after radiation and chemical therapy in NPC patients. The positive rate of SA was 94.0% (47/50) before treatment, 2.0% (1/50) after clinical recovery, 96.2% (25/26) in recurrent patient and 4.2% (1/24) in patients without recurrence. The reaction of EBV-VCA-IgA was slow and its corresponding positive rates were 90.0%, 90.0%, 84.6%, 0% and 75.0% respectively. The sensitivity of SA in pre-treated NPC patients was 94.0%, higher than EBV-VCA-IgA (90.0%). The specificity of serum SA was 93.0% in this series, lower than that of EBV-VCA-IgA (96.0%).</p><p><b>CONCLUSION</b>Dynamic detections of serum SA combined with EBV-VCA-IgA can be used as indices in dictating the changes in NPC patients and screening of high-risk population, judgment of curative effect and prediction of prognosis.</p>

Prevalence of seronegative spondyloarthritis in the army force of China / 中华流行病学杂志

<p><b>OBJECTIVE</b>To investigate the prevalence and epidemiologic characteristics of seronegative spondyloarthritis (SpAs) in Chinese army force in different areas.</p><p><b>METHODS</b>4-phase survey was conducted in 21 750 Chinese army, including: face-to-face interviews with standardized COPCORD questionnaires (Phase I screening); further examination on the suspected cases; identification of inflammatory joint and spinal diseases (Phase II); identification of SpAs (AS and uSpA) by more than two experienced specialists in rheumatology; further examination with X-rays and laboratory detection of HLA-B27 (Phase III); and data analysis (Phase IV).</p><p><b>RESULTS</b>Among 21 750 army men, 21 cases of RA, 106 cases of SpAs were identified, with prevalence rates of 0.966 per thousand, 4.87 per thousand respectively. In 106 cases of SpAs, there were 46 cases of ankylosing spondylitis (AS), 52 cases of undifferentiated SpAs (uSpAs) with the prevalence rates of 2.11 per thousand and 2.39 per thousand respectively. Few cases of reactive arthritis (ReA) and Reiter's syndrome (RS) were identified (6 and 1 cases respectively). The prevalence of AS, uSpAs were higher in navy than that in the ground force or the air force. Soldiers in cold and damp areas had higher prevalence rates than that in the plain and drought areas.</p><p><b>CONCLUSION</b>The prevalence of SpA (especially AS and uSpA) in Chinese army force was similar to that in the civilians. SpA (AS and uSpA) was more prevalent seen in the Navy. The incidence of SpA (AS and uSpA) was influenced by environmental factors such as coldness and dampness.</p>