Sleep quality in women with diabetes in pregnancy: a single-center retrospective study.

PURPOSE: Sleep quality is an important indicator of individual quality of life, which not only affects people's mental health but is also closely related to the occurrence of many diseases. Sleep disorders associated with diabetes in pregnancy can greatly endanger the health of both mothers and babies, and their hazards are strongly associated with blood glucose levels. This study explored the quality of sleep and sleep disorders in pregnant women with diabetes. METHODS: From June 2020 to July 2021, a total of 693 patients diagnosed with diabetes during pregnancy in Gansu Provincial Maternal and Child Health Hospital were used as the experiment group, including 626 patients with gestational diabetes mellitus (GDM) and 67 patients with pregestational diabetes mellitus (PGDM). At the same time, 709 women not having diabetes were randomly selected as the control group. To obtain the general situation of the participants, the participants were surveyed using the Pittsburgh Sleep Quality Index (PSQI) and the STOP-BANG (S, Snoring; T, Tiredness; O, Observed apnea; P, high blood Pressure; B, Body mass index > 35 kg/ m2; A, Age > 50 years; N, Neck circumference > 40 cm; G, male Gender) questionnaire. The differences in sleep quality and obstructive sleep apnea-hypopnea syndrome (OSAHS) were analyzed between the experiment group and the control group by using chi-square and t-test, and the clinical features and related factors of sleep disorder were analyzed. RESULTS: Compared with the control group, the age, pre-pregnancy weight, body mass index (BMI), and neck circumference were larger in the experimental group (P < 0.05). The experimental group had higher PSQI scores for sleep quality, time to fall asleep score, sleep duration, sleep efficiency, sleep disorder, and daytime dysfunction than the control group (all P < 0.001). Specific analysis of the clinical features of sleep disorders indicated that the experimental group scored higher than the control group (P < 0.05). The analysis of the types of daytime dysfunction showed that the experiment group scored higher in terms of frequently feeling sleepy and lack of energy to do things than the control group (P < 0.05). Analysis of STOP-BANG scores indicated that the proportion of patients with GDM or PGDM having fatigue, hypertension, BMI > 35 kg/m2, and neck circumference > 40 cm was higher than that in the control group (P < 0.05). According to regression analysis, sleep quality of patients with GDM was significantly impacted by the increases in age (OR: 1.243, CI:1.197-1.290), neck circumference (OR: 1.350, CI: 1.234-1.476), PSQI score (OR: 2.124, CI:1.656-2.724), and sleep efficiency score (OR: 3.083, CI:1.534-6.195), whereas that of patients with PGDM was impacted by age (OR: 1.191, CI:1.086-1.305), neck circumference (OR: 1.981, CI: 1.469-2.673), and PSQI score (OR: 7.835, CI: 2.383-25.761). CONCLUSIONS: Pregnant women with diabetes had poorer sleep quality and a higher risk of developing OSAHS than those without diabetes. There may be some link between sleep quality and the onset of diabetic.

The psychological status mediates the effect of indoor air pollution on recurrent spontaneous abortion.

BACKGROUND: Indoor air pollution (IAP) exposure and psychological status have been recognized as important risk factors for adverse pregnancy outcomes, but their mediating effects on recurrent spontaneous abortion (RSA) have not been analyzed. Therefore, the purpose of this study is to explore the association between IAP and RSA and to examine the mediating effect of psychological status on their association. METHODS: This study included 830 RSA cases and 2156 controls in Gansu province, China. The Self-Rating Anxiety Scale (SAS) and Self-Rating Depression Scale (SDS) questionnaires were used to collect information on participants' psychological status. The IAP exposure was collected by the survey on cooking fuel use, kitchen ventilation characteristics, cooking styles, and indoor smoking, etc. Multivariable logistic regression was used to examine the associations between IAP exposure and RSA. The mediation analysis was used to evaluate the mediation effects of IAP and psychological status on RSA while controlling for confounding. RESULTS: Among these cases, 16.87% cooked with unclean cooking fuel (UCF) and 37.00% lacked cooking ventilation, which was much higher than the controls. Active smoking and the use of UCF were associated with RSA, with an odds ratio (OR) of 3.374 [95% confidence interval (CI): 1.510-7.541] and 1.822 (95% CI: 1.328-2.500), respectively. We found that the use of a range hood was a protective factor for RSA, with an OR of 0.590 (95% CI: 0.463-0.752). There was a significant mediation effect of depression on the association between IAP and RSA, which accounted for 5.61%-9.22% of the total effect of IAP on RSA. CONCLUSION: The IAP may be an important risk factor for RSA, which may be intensified by the poor psychological status, and the use of ventilation equipment when cooking is a protective factor for RSA.

Whole-exome sequencing identified a homozygous novel RAG1 mutation in a child with omenn syndrome.

INTRODUCTION AND OBJECTIVES: Omenn syndrome (OS) is a very rare type of severe combined immunodeficiencies manifested with erythroderma, eosinophilia, hepatosplenomegaly, lymph-adenopathy, and elevated level of serum IgE. OS is inherited with an autosomal recessive mode of inheritance. Germline mutations in the human RAG1 gene cause OS. MATERIALS AND METHODS: In this study, we investigated a 2-month-old boy with cough, mild anaemia, pneumonia, immunodeficiency, repeated infection, feeding difficulties, hepatomegaly, growth retardation, and heart failure. Parents of the proband were phenotypically normal. RESULTS: Karyotype analysis and chromosomal microarray analysis found no chromosomal structural abnormalities (46, XY) and no pathogenic copy number variations (CNVs) in the proband. Whole-exome sequencing identified a novel homozygous single nucleotide deletion (c.2662delC) in exon 2 of the RAG1 gene in the proband. Sanger sequencing confirmed that both the proband parents were carrying this variant in a heterozygous state. This variant was not identified in two elder sisters and one elder brother of the proband and in the 100 ethnically matched normal healthy individuals. This novel homozygous deletion (c.2662delC) leads to the frameshift, which finally results in the formation of the truncated protein (p.Leu888Phefs*3) V(D)J recombination-activating protein 1 with 890 amino acids compared with the wildtype V(D)J recombination-activating protein 1 of 1043 amino acids. Hence, it is a loss-of-function variant. CONCLUSIONS: Our present study expands the mutational spectrum of the RAG1 gene associated with OS. We also strongly suggested the importance of whole-exome sequencing for the genetic screening of patients with OS.

Anxiety and depression are risk factors for recurrent pregnancy loss: a nested case-control study.

BACKGROUND: To evaluate the interaction of depression and anxiety with the development of recurrent pregnancy loss (RPL). METHODS: A nested case-control study involving 2558 participants was conducted with data from the prospective Miscarriage Woman Cohort study between 2017 and 2019 in the province of Gansu, China. The questionnaire data, self-rating anxiety scale and self-rating depression scale were collected after each participant's first miscarriage. Information on RPL outcomes was obtained from the medical records within the subsequent 2 years. All patients diagosed RPL were recruited as cases whilst a randomly selected group of women with only one miscarriage in the past were recruited as controls. The logistic regression and the interaction effects between anxiety and depression and RPL were analysed. RESULTS: The prevalence of anxiety (n = 325, 28.7% vs. n = 278, 19.5%) and depression symptoms (n = 550, 48.6% vs. n = 589, 41.3%) for the 1132 RPL cases were higher than 1426 non-RPL controls (P < 0.001). After adjusting for possible confounding variables, the odds ratio (OR) value, reflecting the multiplicative interaction, was 1.91 (95% CI 1.50-2.44, P < 0.001) for cases with both anxiety and depression symptoms compared with the non-RPL group. The relative excess risk of interaction value, reflecting the additive interaction between anxiety and depression to RPL was 1.15 (95% CI 0.32-4.21). Moreover, the adjusted OR for RPL cases with mild anxiety and severe depression was 2.77 (95% CI 1.07-44.14, P < 0.001), for RPL cases with severe anxiety and mild depression was 4.23 (95% CI 1.01-22.21, P < 0.001), for RPL cases with severe anxiety and moderate depression was 4.34 (95% CI 1.03-21.28, P < 0.001) and for RPL cases with severe anxiety and severe depression was 5.95 (95% CI 1.09-45.09, P < 0.05). CONCLUSIONS: Either depression or anxiety alone could increase the risk of subsequent RPL. Anxiety and depression had a synergistic effect after the first miscarriage which increased the development of subsequent RPL disease.

Fetal growth velocity references from a Chinese population-based fetal growth study.

BACKGROUND: Fetal growth velocity standards have yet to be established for the Chinese population. This study aimed to establish such standards suitable for the Chinese population. METHODS: We performed a multicenter, population-based longitudinal cohort study including 9075 low-risk singleton pregnant women. Data were collected from the clinical records of 24 hospitals in 18 provinces of China. Demographic characteristics, reproductive history, fetal ultrasound measurements, and perinatal outcome data were collected. The fetal ultrasound measurements included biparietal diameter (BPD), abdominal circumference (AC), head circumference (HC), and femur diaphysis length (FDL). We used linear mixed models with cubic splines to model the trajectory of four ultrasound parameters and estimate fetal weight. Fetal growth velocity was determined by calculating the first derivative of fetal size curves. We also used logistic regression to estimate the association between fetal growth velocities in the bottom 10th percentile and adverse perinatal outcomes. RESULTS: Fetal growth velocity was not consistent over time or among individuals. The estimated fetal weight (EFW) steadily increased beginning at 12 gestational weeks and peaked at 35 gestational weeks. The maximum velocity was 211.71 g/week, and there was a steady decrease in velocity from 35 to 40 gestational weeks. The four ultrasound measurements increased in the early second trimester; BPD and HC peaked at 13 gestational weeks, AC at 14 gestational weeks, and FDL at 15 gestational weeks. BPD and HC also increased from 19 to 24 and 19 to 21 gestational weeks, respectively. EFW velocity in the bottom 10th percentile indicated higher risks of neonatal complications (odds ratio [OR] = 2.23, 95% confidence interval [CI]: 1.79-2.78) and preterm birth < 37 weeks (OR = 3.68, 95% CI: 2.64-5.14). Sensitivity analyses showed that EFW velocity in the bottom 10th percentile was significantly associated with more adverse pregnancy outcomes for appropriate-for-gestational age neonates. CONCLUSIONS: We established fetal growth velocity curves for the Chinese population based on real-world clinical data. Our findings demonstrated that Chinese fetal growth patterns are somewhat different from those of other populations. Fetal growth velocity could provide more information to understand the risk of adverse perinatal outcomes, especially for appropriate-for-gestational age neonates.

The association between maternal fruit consumption before and during pregnancy and fetal growth: The Lanzhou birth cohort study.

Background: The association between maternal fruit consumption and fetal growth remains inconsistent. The current study aimed to determine whether maternal fruit consumption was associated with low birth weight (LBW) or small for gestational age (SGA) babies. Methods: A large birth cohort study was conducted in Lanzhou, China, from 2010 to 2012 and included 10,076 pregnant women at the 1st, 2nd, and 3rd trimester of pregnancy for analysis. Fruit consumption in the 1st, 2nd, and 3rd trimester of pregnancy was measured by a self-designed food frequency questionnaire (FFQ) and divided into three groups: 1) inadequate fruit consumption: <200 g/d for the1st, 2nd, and 3rd trimester; 2) adequate fruit consumption: 200-350 g/d for the 1st trimester or 200-400 g/d for the 2nd and 3rd trimester; 3) excessive fruit consumption: >350 g/d for the 1st trimester or > 400 g/d for the 2nd and 3rd trimester. A case-control study was used to analyze the association between fruit intake during pregnancy and low birth weight infants. Results: Compared to adequate fruit consumption, excessive fruit consumption throughout each trimester of pregnancy was associated with a lower risk of LBW, with an odds ratio (OR) ranging from 0.70 to 0.79 (95 % confidence interval, CI: 0.57-0.98); while inadequate fruit consumption was associated with a higher risk of infant LBW, with an OR ranging from 1.26 to 1.36 (95%CI: 1.04-1.66). After stratifying by mother's pre-pregnancy body mass index (BMI), the results were similar among women with underweight BMI. No significance was found between fruit consumption and SGA in the general population. Still, stratified analyses showed that inadequate fruit consumption was associated with an increased risk of SGA in underweight mothers, with an OR ranging from 1.66 to 1.79 (95%CI: 1.13-2.64). Conclusions: Fruit consumption during pregnancy reduces the risk of LBW in Chinese women, especially in women with low pre-pregnancy BMI.

Novel de novo mutation in ZBTB20 in a Chinese Primrose syndrome family and a review of the literature.

BACKGROUND: Primrose syndrome is an autosomal dominant disorder characterized by craniofacial dysmorphism, mental retardation, developmental delay, progressive muscle atrophy and calcification of the earlobe due to a mutation in the ZBTB20. METHOD: We reported a case of a Chinese boy with clinical symptoms resembling Primrose Syndrome, and performed genetic etiology analysis of the proband's family through Trio whole exome sequencing. RESULT: A novel missense variant c.1927T>A(p.F643I) in exon 14 of the ZBTB20 (NM_001348803) was identified in the proband. This is the first report case of primrose syndrome in China, and our case extends the variant spectrum of ZBTB20 and further strengthens the understanding of primrose syndrome. CONCLUSION: However, there are no formal clinical guidelines for the management of this disease, and research on treatment and prognosis remains a challenge and focus in future.

The endometrial cancer detection using non-invasive hypermethylation of CDO1 and CELF4 genes in women with postmenopausal bleeding in Northwest China.

Objective: The objective of this study was to verify the clinical predictive performance of methylated cysteine dioxygenase type 1 (CDO1m) and CUGBP Elav-like family member 4 (CELF4m) in endometrial cancer (EC) women with postmenopausal bleeding (PMB). Material and Methods: A single-center, prospective, and case-control study was conducted in the Gansu Provincial Maternity and Child-care Hospital with 138 female postmenopausal patients enrolled in 2022. All patients underwent body mass index (BMI) detection, transvaginal ultrasonography (TVUS) detection, carbohydrate antigen 125 detection, and the cervical exfoliated cell CDO1/CELF4 gene methylation detection to analyze the sensitivity, specificity, and accuracy of different screening tests statistically with the biopsy and/or dilation and curettage (D&C) pathological diagnosis under hysteroscopy as the gold standard. Results: There was no significant difference in age between the EC group and the non-EC group, P = 0.492. Using quantitative polymerase chain reaction (qPCR) technology, we validated the CDO1 and CELF4 methylation detection with 87.5% sensitivity and 95.9% specificity as a useful strategy for the triage of women with PMB for the detection of EC. In addition, 100% of type II EC (n = 6) were positively detected by the CDO1 or CELF4 methylation test. Conclusion: The CDO1 and CELF4 methylation test with high specificity as an auxiliary diagnostic tool or alternative method provides physicians with a reference to distinguish between benign and malignant tumors in women with postmenopausal bleeding, to justify the necessity of using invasive methods to confirm diagnosis.

Combined Amniotic Membrane and Self-Powered Electrical Stimulator Bioelectronic Dress Promotes Wound Healing.

Human amniotic membranes (hAMs) are widely used as wound management biomaterials, especially as grafts for corneal reconstruction due to the structure of the extracellular matrix and excellent biological properties. However, their fragile nature and rapid degradation rate hinder widespread clinical use. In this work, we engineered a novel self-powered electronic dress (E-dress), combining the beneficial properties of an amniotic membrane and a flexible electrical electrode to enhance wound healing. The E-dress displayed a sustained discharge capacity, leading to increased epidermal growth factor (EGF) release from amniotic mesenchymal interstitial stem cells. Live/dead staining, CCK-8, and scratch-wound-closure assays were performed in vitro. Compared with amniotic membrane treatment alone, the E-dress promoted cell proliferation and migration of mouse fibroblast cells and lower cytotoxicity. In a mouse full-skin defect model, the E-dress achieved significantly accelerated wound closure. Histological analysis revealed that E-dress treatment promoted epithelialization and neovascularization in mouse skin. The E-dress exhibited a desirable flexibility that aligned with tissue organization and displayed maximum bioactivity within a short period to overcome rapid degradation, implying great potential for clinical applications.

Comparison of the 2009 Institute of Medicine and 2021 Chinese guidelines for gestational weight gain: A retrospective population-based cohort study.

OBJECTIVE: To analyze the associations between gestational weight gain (GWG) and perinatal outcomes based on the GWG guidelines of the Chinese Nutrition Society (CNS) and the Institute of Medicine (IOM). METHODS: This was a retrospective study with 9075 low-risk singleton pregnant women. Logistic regression model was used to analyze associations between GWG categories and perinatal outcomes. Sensitivity analyses were performed based on pre-pregnancy body mass index (calculated as weight in kilograms divided by the square of height in meters). RESULTS: Excessive GWG as defined by the two guidelines was associated with a higher risk of adverse perinatal outcomes. Inadequate GWG was associated with higher risks of small for gestational age (adjusted odds ratio [aOR] 1.34, 95% confidence interval [CI] 1.10-1.64) and preterm birth (aOR 1.70, 95% CI 1.22-2.36), but a lower risk of large for gestational age (LGA) (aOR 0.77, 95% CI 0.63-0.95) according to the IOM guidelines. When using the CNS guidelines, inadequate GWG was associated with only a lower risk of preterm birth (aOR 1.80, 95% CI 1.19-2.70). Sensitivity analyses suggested that excessive GWG was associated with a higher risk of LGA in underweight women. CONCLUSIONS: Both guidelines could demonstrate the relationship between GWG and adverse perinatal outcomes. The CNS guidelines were more suitable for the Chinese population with underweight or normal weight before pregnancy, whereas IOM was more suitable for pregnant women with inadequate GWG.

The reciprocal relationships between Chinese children's perception of interparental conflict, negative thinking, and depression symptoms: A cross-lagged study.

The present longitudinal study used the traditional cross-lagged panel model (CLPM) and autoregressive latent trajectory model with structured residuals (ALT-SR) to examine the relationships between perceived interparental conflict (IPC), negative thinking (NT), and depression symptoms in Chinese children. Changes in these three variables over time were also examined, as well as the trait and state aspects of the relationships between them. A sample of 516 third-grade primary students completed questionnaires about IPC, NT, and depression three times over a period of 1 year, at 6-month intervals. The CLPM findings indicated that, assuming that stability of each variable across time was controlled, Chinese children's perception of IPC significantly affected their level of depression through the mediating path of NT. After taking trait factors into account, among all the significant autoregressive and cross-lagged paths originally found in the CLPM, only one third remained significant in the ALT-SR model. More specifically, the ALT-SR model, revealed a driving effect of children's NT on perceived IPC and depression symptoms. The CLPM model although elucidated the interplay among three variables, the ALT-SR model showed little evidence of their interrelated growth across time. Taken together, these results indicate that children's perceived IPC in the long term are a stable trait, with few state-level fluctuations, and is not a significant within-person predictor of subsequent children's internalization problems. These perceptions appear to contribute more to children's general psychological tendency than do changes over time. The research is the first to test the reciprocal relationships between Chinese children's perceived IPC, NT, and depression symptoms. The findings demonstrate that previously proposed theories about the bidirectional relation between IPC and children's social adjustment, to some extent, may reflect a correlation at a trait level. Put another way, it is IPC's central tendency to be sensitive in the long term as a stable trait that is associated with their children's general tendency to show well adjustment. The study contributes to our understanding of that extend previous results and have implications for complementary theoretical and practical interventions. The complementary techniques of CLPM and ALT-SR models offer different insights into children's internalization problems, and hold promise for supporting the building of more comprehensive children's developmental theories that acknowledge the interconnectedness of different domains of mental health.

Destructive interparental conflict affects Chinese children's emotional and behavioral problems: Indirect pathways via parent-child attachment and emotional insecurity.

Background: Previous studies have demonstrated that destructive interparental conflict (IPC) is closely related to the emergence of emotional and behavioral problems in adolescents. In addition, in the family system, such conflict also affects the patent-child attachment relationship and emotional insecurity of adolescents. Objectives: This study mainly explores the relationship between destructive interparental conflict and adolescents' emotional and behavioral problems, focuses on the role of parent-child attachment and emotional insecurity, and analyzes whether this relationality plays multiple mediating roles in the influence of destructive interparental conflict on emotional and behavioral problems. Methods: Data for the study were obtained through a questionnaire survey conducted on 524 Chinese adolescents from primary and junior high school. Results: Structural equation modeling was conducted to test direct and indirect pathways between destructive interparental conflict and Chinese adolescents' emotional and behavioral problems. Destructive IPC negatively predicted parent-child attachment and parent-child attachment negatively predicted emotional and behavioral problems. Destructive Interparental conflict positively predicted emotional insecurity and emotional insecurity positively predicted emotional and behavioral problems. Discussion: The results show that: (1) Parent-child attachment negatively predicted emotional and behavioral problems, and emotional insecurity positively predicted the same. (2) Parent-child attachment and emotional insecurity act in a multiple mediating role between destructive IPC and adolescents' emotional and behavioral problems. (3) Parent-child attachment and emotional insecurity constitute two indirect pathways between destructive IPC and adolescents' emotional and behavioral problems, respectively. Conclusion: Destructive IPC can adversely affect emotional and behavioral problems among adolescents; destructive IPC plays a damaging role in their emotional security and parent-child attachment, consequently effecting emotional and behavioral problems.

Analysis of the Influence of Midwife Led Antenatal Clinic on the Delivery Outcomes of Primipara under the Evaluation of Medical Data.

Objective: In order to improve the comprehensive effect of primipara delivery outcomes, the midwife led prenatal clinic of data mining is analyzed to alleviate the negative emotions of patients and improve the delivery results of patients. Methods: A total of 86 patients who were filed in the obstetrics department of our hospital from October 2021 to May 2022 and planned to deliver in our hospital were selected as the research objects. They were divided into the reference group (n = 43) and the observation group (n = 43) according to the random number table method. Among them, the reference group received routine antenatal clinics, and the observation group received midwives' participation in antenatal clinics for intervention. The total duration of labor, the scores of various psychological states including antenatal anxiety (SAS) and antenatal depression (SDS), as well as the pregnancy outcome and delivery compliance rate of the two groups were compared. Results: The psychological state evaluation of delivery in the observation group, whether SAS score or SDS score, was significantly lower than that in the reference group, and the difference was statistically significant. The whole labor process time of patients in the observation group was significantly shorter than that in the reference group, and the difference was statistically significant. The delivery compliance of patients in the observation group during the whole perinatal period was also higher than that of the reference group, and the difference was statistically significant. All P values were<0.05. Conclusion: The antenatal clinic led by midwives can promote primiparas to increase the success rate of natural delivery, improve the treatment compliance of the whole perinatal period, reduce the psychological pressure of primiparas, effectively shorten the total time of production, and have a significant impact on the outcome of delivery. It should be widely used.

Identification of a novel ANK1 mutation in hereditary spherocytosis co-existing with BWS.

BACKGROUND: Beckwith-Wiedemann syndrome (BWS) is an inherited disorder affecting 1 in 10,500 to 13,700 newborns worldwide. The disease is caused in a vast majority of patients by a molecular defect in the imprinted chromosome 11p15.5. Hereditary spherocytosis (HS) is a form of hemolytic anemia associated with a variety of mutations leading to congenital red blood cell (RBC) membrane defects. The prevalence of HS varies by geographic regions around the world, ranging from 1.2 in 100,000 in Asia to 1 in 2000 in Northern Europe. METHODS AND RESULTS: Herein, we report for the first time a rare case diagnosed with co-existing BWS and HS. Based on the classical presentations, including macroglossia, hepatosplenomegaly, and macrosomia, the patient was first suspected with BWS. MS-MLPA confirmed the BWS diagnosis based on hypomethylation of maternal 11p15.5 (KCNQ1OT1), but no copy number variations in chromosome 11 was detected by CNV-seq. Nevertheless, to scrutinize molecular causes of other symptoms of the patient, including anemia, hyperbilirubinemia, and jaundice, a whole exome sequencing (WES) was performed. We identified a novel and de novo mutation in ANK1 gene (c.520delC). This frameshift mutation of ANK1 gene results in a truncated protein without important functional domains and impaired membrane stability and structure of the resultant red blood cells (RBCs), leading to a definitive diagnosis of HS. CONCLUSION: The present case demonstrated that multiple genetic and epigenetic aberrations might co-exist in the complex genetic diseases. For such kind of complicated cases, the different types of molecular tests, such as WES and MS-MLPA, should be utilized in combination to reveal independent causal molecular events. The identifications from this study added new insights into the understanding of molecular mechanisms underlying the co-existing HS and BWS.

Detailed pedigree analyses and prenatal diagnosis for a family with mucopolysaccharidosis type II.

BACKGROUND: Mucopolysaccharidosis type II (MPS II) is an X-linked multisystem disorder caused by mutations in the gene encoding iduronate 2-sulfatase (IDS). The clinical manifestations of MPS II include skeletal deformities, airway obstruction, cardiomyopathy, and neurologic deterioration. MPS II has high genetic heterogeneity disorder, and ~ 658 variants of IDS have been reported. METHODS: We undertook a detailed pedigree analysis of four patients within the same family by targeted next-generation sequencing and Sanger sequencing. RESULTS: We identified a novel heterozygous frameshift variant, c.1224delC(p.Pro408ProfsTer31), of IDS in three patients. We defined c.1224delC as a pathogenic variant according to the 2015 guidelines set by the American College of Medical Genetics and Genomics. CONCLUSION: We reported the second Chinese female MPS II patient. We helped to ensure that these two families had healthy babies. Our findings have enlarged the mutational spectrum of IDS, and these findings could be useful for genetic counseling and the prenatal diagnosis of MPS II.

Clinical effectiveness of position management and manual rotation of the fetal position with a U-shaped birth stool for vaginal delivery of a fetus in a persistent occiput posterior position.

OBJECTIVE: To examine the effects of position management, manual rotation of the fetal position, and using a U-shaped birth stool in primiparous women with a fetus in a persistent occiput posterior position. METHODS: This was a prospective pilot study of women who delivered at Gansu Provincial Maternity and Child-care Hospital between January and June 2018. The women were divided into the position management ([PM] position management, manual rotation of fetal position, use of a U-shaped birth stool at different stages, and routine nursing) and control groups (position selected by women and routine nursing). RESULTS: There were 196 women in the PM group and 188 in the control group. There were no significant differences in maternal age, gestational weeks, newborn weight, and the neonatal asphyxia rate between the PM and control groups. The duration of labor was shorter in the PM group than in the control group. Pain and blood loss 2 hours after delivery and the episiotomy rate were significantly lower in the PM group than in the control group. CONCLUSION: Applying position management, manual rotation of the fetal position, and using a U-shaped birth stool should be considered for women with a fetus in a persistent occiput posterior position.

Five Novel COL7A1 Gene Mutations in Three Chinese Patients with Recessive Dystrophic Epidermolysis Bullosa.

BACKGROUND: Dystrophic epidermolysis bullosa (DEB) is an inherited skin disorder with variable severity and heterogeneous genetic involvement. Recessive DEB (RDEB) is a rare heritable blistering skin condition caused by loss-of-function mutations in the COL7A1 gene. AIM: This study aimed to determine the genetic basis of three Chinese RDEB patients from different families and identify correlations between phenotype and genotype. METHODS: All three patients were diagnosed with RDEB based on typical phenotype. Genomic DNA from both the patients and parents was subjected to amplification of all 118 exons and flanking intron boundaries of the COL7A1 gene, followed by Sanger sequencing. RESULTS: Sanger sequencing identified six mutations in the three patients: five novel mutations (c.2321_2322insCTGA in exon 18, c.5924-5927delAACG in exon 72, c.4871delC in exon 53, c.8278G>A in exon 111, and c.1A>G in exon 1) and one recurrent mutation (c.8038G>A in exon 108). The first three novel mutations resulted in a premature termination codon (PTC), the remaining two novel mutations caused a glycine substitution and a loss of the primary ATG start codon, respectively. All patients had a heterozygous PTC mutation combined with either a glycine substitution mutation in the critical triple-helical collagenous domain or a loss of the primary ATG start codon. CONCLUSION: Our findings expand the mutation spectrum of COL7A1 leading to RDEB and confirm that the RDEB phenotype correlates with the compound heterozygous PTC mutation with a missense mutation. This study will aid the molecular diagnosis, genetic counseling and prognosis prediction of RDEB patients.

[Optimization of antibiotics in combination].

OBJECTIVE: To evaluate the antibacterial activity of Ciprofloxacin, Amikacin in combination with beta-lactams against Pseudomonas aeruginosa strains in vitro, to optimize treatment regime for antibiotics on the basis of pharmacokinetics (PK)/pharmacodynamics (PD) and drug sensitivity tests. Methods With checkerboard titration method, the minimal inhibitory concentrations (MIC) of a combination of antibiotics in different concentrations for 33 clinically isolated Pseudomonas aeruginosa strains were determined by broth dilution. Fractional inhibitory concentrations (FIC) were calculated for judging synergic effect of antibiotics. RESULTS: The combination of Amikacin and Ceftazidime showed synergic effects (accounting for 57.6%). The combinations of Ciprofloxacin with Ceftazidime, Cefepime, Imipenem/Cilastatin, Meropenem showed synergic or additive effect. In the study with PK/PD, C(max)/MIC was the principal parameters for evaluation of aminoglycoside and fluoroquinolone antibiotics, while T > MIC was the principal parameter to be used to evaluate beta-lactams antibiotics. CONCLUSION: When antibiotics are used in combination, MICs can be reduced significantly and antibacterial activities are enhanced remarkably. The combination of antibiotics results mainly in synergic or additive effect, and no inhibitory effect is observed. PK/PD analysis plays an important role in planning optimal combination regime to raise clinical efficacy.