Occupational health risk assessment of noise in a coal mining enterprise in Shaanxi Province / 公共卫生与预防医学

Objective To evaluate the noise hazard level of a coal mining enterprise, and identify high-risk operation types and people, and to provide a basis for preventing and controlling the health damage caused by noise. Methods A large coal mining enterprise in Shaanxi Province was selected as the research object. The noise monitoring data of the coal mine over the years was used to calculate the noise exposure matrix of each post in the enterprise, and the classification of occupational hazards at workplaces (GBZ/T 229.4-2012) was used to assess the occupational health risk levels. Results Among the 22 noise-exposed positions in the enterprise, the 8-hour working day equivalent sound level in positions of shearer driver, horseshoe driver, crusher driver, shuttle driver, relaxation screen driver, and grading screen driver were all higher than the occupational exposure limit of noise. In 2021, the noise exposure levels of shearer drivers, crusher drivers, and coal-selecting workers were all higher than 90 dB (A), and the occupational hazard level was moderate hazard level. In addition, the noise exposure levels of most other jobs also exceeded the occupational exposure limit. Conclusion The noise hazards in the coal mine industry are mainly concentrated in the posts of the coal mining system, tunneling system, and screening workshop. Among them, the shearer driver, the crusher driver, and the coal preparation workers have higher noise exposure levels. It is recommended to take corresponding noise reduction measures and strengthen the protection level to reduce the noise exposure risk of workers.

Effects of cannabidiol on the expression of Occludin and ZO 1 and the permeability of blood brain barrier in the cerebral cortex of rats with traumatic brain injury / 安徽医科大学学报

Objective @#To ob serve the expression and trends of tight j unction proteins Occludin and zonula occluden-1 (ZO-1) in blood brain barrier (BBB) of rats with traumatic brain injury (TBI) , and to explore the intervention effect of cannabidiol (CBD) on the BBB . @*Methods @#The TBI model of rat was prepared by modified “Feeney free fall method ”and randomly divided into three groups : the sham operated group ( Sham group) , the model group (TBI + vehicle group) and the CBD intervention group ( TBI + CBD group) , with 24 rats in each group . Each group was subdivided into six time points : 8 h , 1 , 2 , 3 , 5 and 7 d after injury. The expression of Occludin and ZO-1 , which are closely related to the permeability of BBB , was detected by immunohistochemistry , immuno fluorescence staining and Western blot at different points . The permeability of BBB was detected by sodium fluores cein assay.@*Results @#The results of immunohistochemistry showed that compared with Sham group , the positive ex pression of Occludin and ZO-1 decreased with time after brain trauma ( P < 0.05) , and both reached the lowest level at 2 d . The expression levels of Occludin and ZO-1 were up regulated after 1 d of CBD intervention ( P < 0.05) . Immunofluorescence staining showed a similar trend to Western blot results , with Occludin and ZO-1 fluo rescence expression intensity and protein expression reduced after TBI compared with Sham group ( P < 0.05 ) . And the expression levels of Occludin and ZO-1 were up regulated after 2 d of CBD intervention (P < 0.05) . The results of fluorescein sodium experiment showed that the BBB integrity of brain tissue was destroyed after TBI , and the permeability increased after TBI (P < 0.01) . The permeability of BBB decreased after CBD intervention (P < 0.05) . @*Conclusion @#The expression of tight junction proteins O ccludin and ZO-1 decreases after TBI , and the permeability of BBB is disrupted , and CBD intervention reverses the disruption of the BBB by TBI .

Design and clinical application of intracavitary-interstitial brachytherapy applicator template in locally advanced cervical cancer / 中华放射肿瘤学杂志

Objective:To design and evaluate the application value of intracavitary-interstitial brachytherapy (IC-ISBT) applicator template for locally advanced cervical cancer.Methods:MRI data of 100 patients with ⅡB-ⅣA stage cervical cancer (International Federation of Gynecology and Obstetrics 2018 staging system) before and after external beam radiation therapy (EBRT) admitted to Sun Yat-sen University Cancer Center from March 2019 to September 2020 were collected. The range of primary cervical lesions was retrospectively analyzed and compared. Based on the residual mass of patients, the corresponding high-risk clinical target volume (HR-CTV) was delineated, and the IC-ISBT applicator template was designed and initially applied to cervical cancer patients. Dosimetry analysis and efficacy evaluation were compared between the applicator template-guided ( n=37) and free-hand implantation groups ( n=63). Chi-square test or Fisher exact test was performed for categorical variables, and t-test or U-test for continuous variables. Results:The median distance between the residual tumor margin (clockwise 3, 6, 9, 12 o'clock) and the center of 100 patients with ⅡB-ⅣA stage cervical cancer after EBRT was 16.5, 14.0, 17.0 and 13.0 mm, respectively. The corresponding HR-CTV was superimposed to reconstruct the three-dimensional diagram, and the cylindrical IC-ISBT applicator template with mushroom-like head was designed and manufactured: the longest and shortest diameter of the head was 35 and 20 mm, respectively; the central channel was adapted to the uterine tube, the C1-C12 channels was arranged in inner circle, and the peripheral B1-B5 and A1-A4 pin channels were expanded bilaterally. In terms of dose coverage, there was no significant difference between the HR-CTV D 90% [(635.12±22.65) vs. (635.80±25.84) cGy], bladder D 2 cm3 [(473.79±44.78) vs. (463.55±66.43) cGy)], rectum D 2 cm3 [(396.99±73.54) vs. (408.00±73.94) cGy] and sigmoid colon D 2 cm3 [(293.07±152.72) vs. (311.31±135.77) cGy] between the template-guided and free-hand implantation groups (all P>0.05), but the HR-CTV D 98% was significantly higher [(544.78±32.07) vs. (536.78±32.04) cGy, P=0.007] and the rectum D 1 cm3 and D 0.1 cm3 were significantly lower [(438.62±69.65) vs. (453.97±67.89) cGy, P=0.016; (519.46±70.67) vs. (543.82±81.24) cGy, P=0.001] in the template-guided implantation group. In addition, there was no significant difference in the complete response rate between two groups (86% vs. 83%, P>0.05). Conclusions:This IC-ISBT applicator template is reasonably designed, and the therapeutic efficacy of the template-guided implantation is equivalent to that of free-hand implantation. The dose coverage of the target area meets the clinical demand with a better protection of the organs at risk. The applicator template has the potential to be widely used as a conventional template in clinical practice as the applicator-guided implantation is convenient to operate and repeat.

Clinical characteristics and genetic analysis of four patients with central hypothyroidism due to IGSF1 gene variants / 中华医学遗传学杂志

OBJECTIVE@#To explore the clinical manifestations and genetic characteristics of patients with congenital central hypothyroidism due to variants of IGSF1 gene.@*METHODS@#Clinical data, results of genetic testing, and follow-up of four patients admitted to Children's Hospital of Soochow University during 2017 to 2021 were retrospectively analyzed.@*RESULTS@#All of the four patients were males. Patient 1 had presented neonatal jaundice, patients 2 and 3 were admitted for growth retardation during childhood, and thyroid function test indicated slightly low free thyroxine (FT4), patient 4 was found to have reduced FT4 in the neonatal period. Genetic testing revealed that all of the four patients have harbored pathogenic variants of the IGSF1 gene, which were all inherited from their mothers. The thyroid functions in all patients were well controlled with oral levothyroxine and regular follow-up.@*CONCLUSION@#Pathogenic variants of the IGSF1 gene probably underlay the congenital central hypothyroidism with a variety of clinical manifestations, and genetic testing can facilitate the diagnosis at an early stage.

Type 4 familial partial lipodystrophy combined with recurrent diabetic ketoacidosis: a case report / 中华实用儿科临床杂志

To analyze the clinical features and genetic variants of a child with type 4 familial partial lipodystrophy (FPLD4) and the initial manifestation of diabetes.The male patient with the age of 13 years and 5 months, and the diabetes course was about 3 years, the patient was admitted to Children′s Hospital of Soochow University on November 10, 2021(4 th hospitalization at the hospital), in the course of diabetes, the children repeatedly suffered from diabetes ketoacidosis, and lipid metabolism complications gradually emerged.The gene sequencing showed that the proband and his mother carried dual gene mutations of PLIN1 c. 1325delG(p.G442Afs*99) and SPINK1 c. 194+ 2T>C(p.? ). The PLIN1 gene was the causal gene of FPLD4.The mutations of c. 1325delG in the PLIN1 gene had not been previously reported.Based on the clinical phenotype, family history and genetic testing findings, the patient was diagnosed as FPLD4.In addition, the mutation of SPINK1 c. 194+ 2T>C(p.? ) might increase the risk of chronic pancreatitis.This case report enriched the clinical characteristics and genotype data of FPLD4.Gene sequencing assisted the accurate diagnosis of the type of diabetes.The effects of dual gene mutations on disease progression should be concerned, which were of great significance to develop treatment regimen and disease management.

Effect of nursing intervention based on interaction model of Cox health behavior on health outcomes of patients with chronic sinusitis with nasal polyps and olfactory disorders / 中国实用护理杂志

Objective:To explore the value of the nursing intervention based on interaction model of Cox health behavior in patients with chronic rhinosinusitis with nasal polyps (CRSwNP) with olfactory disorders, so as to provide reference for clinical caregivers to improve the olfactory function and quality of life of such patients and reduce negative emotions.Methods:This study was a prospective, randomized, single blind controlled trial. A convenient sampling method was used to select 50 patients with olfactory disorders of CRSwNP who were hospitalized in the Department of Otolaryngology, Second Affiliated Hospital of Kunming Medical University from February 2022 to August 2022 as the study population. According to the random number table method, 25 patients in each group were divided into a test group and a control group. The control group was given conventional perioperative nursing measures, while the test group was given nursing intervention based on interaction model of Cox health behavior. Patients in the two groups were recorded and compared in terms of olfactory function, anxiety and depression, and quality of life scores before and after the intervention. Patient satisfaction scores at the time of discharge were also compared between the two groups.Results:Finally, 24 cases were included in the control group and 23 cases in the test group. The comparison of olfactory perception threshold, recognition threshold score, anxiety-depression score and quality of life score between the two groups before the intervention was not statistically significant ( P>0.05) and was comparable. The perceptual domain scores were (-0.18 ± 1.89), (-1.30 ± 1.06) points in the test group at 2 weeks and 1 month after the intervention, respectively, which were lower than the (0.92 ± 1.65), (-0.29 ± 1.40) points in the control group. The differences were statistically significant ( t=2.09, 2.72, both P<0.05). The recognition threshold returned to its normal value (0.38 ± 1.67) points in the test group 1 month after the intervention, with a lower score than the control group′s (1.46 ± 1.77) points. The difference was statistically significant ( t=2.10, P<0.05). After the intervention, the anxiety, depression and quality of life scores in the test group were (31.93 ± 3.55), (32.31 ± 5.80), (31.30 ± 6.00) points respectively, which were lower than the (35.10 ± 5.46), (36.84 ± 6.98), (38.53 ± 9.27) points in the control group. The differences were statistically significant ( t=2.30, 2.36, 3.09, all P<0.05). In addition, the patient satisfaction score was higher in the trial group (49.31 ± 3.95) points than in the control group (44.30 ± 2.60) points, with a statistically significant difference ( t=-5.05, P<0.05). Conclusions:The nursing intervention based on interaction model of Cox health behavior can effectively improve the patients' olfactory function and quality of life, reduce the level of anxiety and depression, and improve the patients' satisfaction.

Pregnancy stress and gestational diabetes mellitus / 中华内分泌代谢杂志

Objective:To observe the pressure level and hair cortisol level of pregnant women, and explore the influence of pregnancy stress on gestational diabetes mellitus(GDM) and underlying mechanism.Methods:The eligible pregnant women at People′s Hospital of Henan Province from January 2020 to December 2021 were selected. Pregnancy stress scale(PSS) was used for stress assessment at 10 th-12 th gestational weeks. The hair of pregnant women was collected to detect cortisol at 24 th-28 th gestational weeks. Oral glucose tolerance test was performed at the 24 th, 28 th, 32 nd and 36 th gestational weeks to diagnose GDM. The endpoint event of follow-up was GDM. Results:Among 498 pregnant women, 20(4.0%) had no stress, 321(64.5%) had mild stress, 128(25.7%) had moderate stress, and 29(5.8%) had severe stress. There was a significant positive correlation between maternal hair cortisol levels and the total PSS score. The hair cortisol level in severe stress group was significantly higher than that in other groups, and the hair cortisol level in GDM group was significantly higher than that in non-GDM group. There were significant differences in GDM-free survival curves among different stress groups( χ2=15.975, P=0.001). Cox multivariate regression showed that severe stress was an independent risk factor for GDM. The area under the receiver operating characteristic curve is 0.747(95% CI 0.545-0.950, P=0.028). Conclusions:Severe stress during pregnancy is an independent risk factor for the occurrence of GDM, and has a certain ability to predict GDM. Cortisol may play a role in the process through which stress mediates GDM. For pregnant women experiencing severe stress, it is necessary to assess stress levels dynamically and take measures accordingly.

Changes in glial fibrillary acidic protein expression in different brain regions of rats with traumatic brain inj ury / 安徽医科大学学报

Objective @#To observe the expression of glial fibrillary acidic protein (GFAP) in the brain tissue of rats with traumatic brain injury (TBI) and the differential changes between brain regions.@*Methods @#The TBI model of rats was prepared by the modified Feeney free fall method , and it was randomly divided into the sham⁃operated qPCR were used to observe the morphological changes of activated astrocytes and the expression of GFAP in different brain regions after TBI.@*Results @#Immunohistochemical staining showed that astrocytes were activated in all brain regions on the right side of TBI , and the only brain regions that spilled over to the contralateral side ( left) were cortical region 1 and midbrain regions. RT⁃qPCR results showed that GFAP mRNA was highly expressed in all brain regions on the right side of TBI , affecting the contralateral cortex and midbrain regions. Western blot results showed that GFAP protein was highly expressed in all brain regions on the right side of TBI , and it spread to the contralateral midbrain regions. @*Conclusion @#TBI can cause the activation of astrocytes and increase GFAP expression in the right brain regions , while also affecting the contralateral (left) cortex 1 and midbrain regions.

Dexmedetomidine attenuates neuroinflammation by inhibiting NF-κB nuclear translocation in rats with traumatic brain injury / 中华急诊医学杂志

Objective:To explore the mechanism of dexmedetomidine (DEX) regulating microglial (MG) polarization and neuroinflammation after traumatic brain injury (TBI) in rats.Methods:Forty-two adult male SD rats were randomly (random number) divided into the sham group, TBI group, TBI+DEX group (further divided into 1 d, 3 d and 7 d subgroups), TBI+NF-κB inhibitor (pyrrolidine dithiocarbamate, PDTC) group and TBI+DEX+PDTC group, with 6 animals in each group. The rat TBI model was established according to the modified Feeney free fall method. PDTC was intraperitoneally injected 1 h after modeling with a dose of 100 mg/kg, and DEX was intraperitoneally injected 2 h after modeling with a dose of 100 μg/kg. Modified neurological severity score (mNSS) was used to evaluate rat neurological function, ELISA was used to detect serum inflammatory factors, and rats’ damaged cortex was collected to detect the phenotype markers of MG and protein expressions of MyD88 and NF-κB p65, and immunofluorescence staining was used to observe the expression and nuclear entry of NF-κB p65 in MG in injured cortex. One-way and two-way ANOVA were used to compare the measurement data among multiple groups.Results:Compared with the sham group, the mNSS score was significantly higher in the TBI group, and DEX treatment significantly decreased the mNSS score of TBI rats ( P<0.05). ELISA and Western blot results showed that in the TBI group, the tumor necrosis factor-α (TNF-α), interleukin (IL)-1β in serum and M1 phenotype marker (TNF-α, IL-1β) in brain were increased, the expression of anti-inflammatory factor IL-10 in serum and M2 phenotype markers (arginase-1 and IL-10) in brain were decreased ( P<0.05), and DEX downregulated the expression of TNF-α, IL-1β in serum and M1 phenotype markers in brain, while upregulated the level of L-10 in serum and the M2 phenotype marker in brain ( P<0.05). In addition, the expression of MyD88 and the nuclear translocation of NF-κB p65 were inhibited in the DEX group, and this effect could be enhanced by PDTC. Conclusions:DEX modulates MG activation in TBI rats by inhibiting NF-κB nuclear translocation and reduces neuroinflammation.

Case report of Imerslund-Gr?sbeck syndrome and literature review / 中华实用儿科临床杂志

Clinical phenotype and gene characteristics of a patient diagnosed with Imerslund-Gr?sbeck syndrome (IGS) in Department of Neurology, Children′s Hospital of Soochow University in December 2018 were analyzed retrospectively, and literature review was conducted.The 16 years and 5 months old boy was admitted to the hospital with symptoms of weakness of lower limbs for 2 weeks.He had a history of megaloblastic anemia and isolated proteinuria.Genetic metabolism of hematuria showed methylmalonic academia.Genetic analysis revealed a compound heterozygous AMN gene mutation[c.742C>T(p.Q248 *) and c. 761G>A(p.G254E)]. These two mutations were derived from his parents respectively, which had been reported before.Symptoms of the patient improved after intramuscular administration of hydroxycobalamin and oral betaine.Review of the literature indicated that the clinical manifestations of AMN gene-related IGS were mostly megaloblastic anemia and isolated proteinuria, and the older children might suffer from neurological symptoms such as movement disorders, dementia, delirium or psychosis.The clinical phenotype of this disease was variable, which might easily lead to misdiagnosis.The patient presented with a special phenotype of mild reversible peripheral neuropathy, which expanded the clinical phenotype of pathogenic genes of AMN gene.In addition, peripheral neuropathy caused by vitamin B 12 metabolic disorders is reversible, and it is suggested to measure vitamin B 12, test related genes and treatment with vitamin B 12 in peripheral neuropathy of unknown etiology.

MELAS syndrome caused by A3252G mutation in MT-TL1 gene: One case report and literature review / 中华内分泌代谢杂志

Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes(MELAS) is one of the most common inherited mitochondrial diseases. This paper reports a rare mutation associated with MELAS syndrome, the m. 3252 A>G mutation in the MT-TL1 gene encoding the mitochondrial tRNALeu(UUR). The 6-year-old girl suffered from recurrent convulsion and lactic acidemia. The mtDNA sequencing detected a variant m. 3252A>G(MT-TL1 gene) in the proband and her maternal relatives. The heteroplasmic levels in peripheral blood and urine sediment were 66.53% and 97.42%, respectively, which were obviously higher than those of her maternal relatives. Together with 3 previously reported cases, the variant m. 3252A>G could be classified pathogenic. All the reported pathogenic variants in MT-TL1 gene were reviewed to explore the genotype-phenotype correlations of pathogenic variants in MT-TL1 gene.

Clinical and genetic analysis of five Chinese pedigrees affected with short stature due to variants of ACAN gene / 中华医学遗传学杂志

OBJECTIVE@#To analyze the clinical and genetic characteristics of five Chinese pedigrees affected with short stature.@*METHODS@#A retrospective analysis was carried out for the clinical data and results of genetic testing for the probands. A literature search was also conducted.@*RESULTS@#The five probands have all featured short stature with a family history. Genetic testing has revealed that they have harbored variants of the ACAN gene, including p.Val2042Argfs*6, p.Val1597del, c.630-1G>A, c.23delT and c.2026+1G>A(previously reported).@*CONCLUSION@#Except for short stature, children harboring heterozygous variants of the ACAN gene may have no involvement of other systems. Some of these children may response to short-term growth hormone treatment.

Study on the in-hospital diagnosis and treatment time in patients with ischemic stroke in Hebei Province / 中华急诊医学杂志

Objective:To investigate the in-hospital diagnosis and treatment time for patients with acute ischemic stroke in Hebei Province.Methods:The data of in-hospital diagnosis and treatment of acute ischemic stroke in Hebei Province were collected and analyzed, and then compared with the NINDS recommended time. Methods The data of in-hospital diagnosis and treatment of acute ischemic stroke in Hebei Province were collected and analyzed, and then compared with the NINDS recommended time.Results:The median time in hospital diagnosis and treatment was significantly longer than the NINDS recommended time (104 min vs. 60 min, P<0.001). The median time from completing the cranial CT scan to getting the CT report differed significantly to the NINDS recommended time (30 min vs. 20 min, P<0.001). The median time from getting the CT report to obtaining treatment was 43 min, which was significantly longer than the NINDS recommended 15 min ( P<0.001). The median time of in-hospital diagnosis and treatment for emergency service system (EMS) patients was 101 min, which was shorter than that for non-EMS patients (104 min, P=0.01). The median time of in-hospital diagnosis and treatment in Tertiary Hospital was 105 min, which was significantly longer than that in Secondary Hospital 99 min, ( P<0.05). Conclusions:The in-hospital emergency treatment delay in Hebei Province was relatively serious for patients with acute ischemic stroke. The time between obtaining the head CT report to beginning thrombolytic therapy is the most important factor in hospital delay. EMS can shorten in-hospital delay for acute ischemic stroke. Compared with the tertiary hospital, the secondary hospital has shorter in-hospital delay time.

Value of serum insulin-like growth factor-1, dehydroepiandrosterone sulphate, anti-Müllerian hormone and bone morphogenetic protein 6 in prediction of rapidly progressive puberty in girls / 中华实用儿科临床杂志

Objective:To investigate the value of serum insulin-like growth factor-1 (IGF-1), dehydroepiandrosterone sulphate (DHEAS), anti-Müllerian hormone (AMH) and bone morphogenetic protein 6 (BMP-6) in prediction of rapidly progressive puberty(RPP) in girls.Methods:The data of 750 girls who visited the Department of Endocrinology, Metabolism and Genetic Disorders, Children′s Hospital of Soochow University from August 2017 to October 2018 because of breast development were retrospectively analyzed.After following up these girls for 6 months to 1 year, those who were lost to follow up, received early treatment and failed to meet the inclusion criteria were excluded.The remaining 138 girls were divided into the central precocious puberty group (CPP, 32 cases), the early puberty with RPP group (EP-RPP, 33 cases), the early puberty with slow progression puberty group (EP-SPP, 32 cases) and RPP group (41 cases) according to the inclusion criteria.The healthy control group consisted of 33 undeveloped girls aged 8 to 9 who underwent physical examination in the same hospital over the same period.The serum concentrations of IGF-1, DHEAS, AMH and BMP-6 were measured.The general information, clinical manifestations, laboratory examination results and radiological features were compared among different groups.Statistical analysis was performed by using SPSS 22.0, and the receiver operating characteristic curve (ROC) was drawn to investigate the value of IGF-1, DHEAS, AMH and BMP-6 in prediction of RPP.Results:(1)The serum follicle stimulating hormone(FSH) peak value was 15.10(13.86-19.80) IU/L in the EP-SPP group, 11.99(9.18-16.16) IU/L in the EP-RPP group and 11.43(9.37-15.63) IU/L in the RPP group.The ratio of serum FSH/luteinizing hormone(LH) peak values was 3.20(2.44-4.58) in the EP-SPP group, 1.86(1.05-3.16) in the EP-RPP group and 0.76(0.49-0.99) in the RPP group.The serum FSH peak value and the ratio of serum FSH/LH peak values in the EP-SPP group were significant higher than those in the EP-RPP group(all P<0.05). There was no significant difference in the serum FSH peak value between the EP-RPP group and the RPP group( P>0.05). (2)The serum IGF-1 levels of the healthy control group, EP-SPP group, EP-RPP group, CPP group and RPP group were 166.00(126.50-188.00) μg/L, 199.00(170.50-262.50) μg/L, 252.00(233.00-291.50) μg/L, 288.00(252.00-376.00) μg/L and 382.00(264.0-499.50) μg/L, respectively.The serum IGF-1 levels of the EP-SPP group, EP-RPP group, CPP group and RPP group were all significantly higher than those in the healthy control group (all P<0.05). The serum IGF-1 levels in the EP-RPP group were higher than those in the EP-SPP group( P<0.01). As the puberty rapidly progressed, the serum IGF-1 levels gradually increased.The RPP group had the highest IGF-1 levels, and the difference in IGF-1 levels between the RPP group and EP-RPP group was statistically significant( P<0.01). (3)The serum DHEAS levels were 41.65(14.80-59.88) μg/L in the healthy control group, 42.50(30.15-79.83) μg/L in the EP-SPP group, 52.32(43.08-98.54) μg/L in the CPP group, 63.30(34.00-81.55) μg/L in the EP-RPP group and 70.89(51.85-100.02) μg/L in the RPP group.The DHEAS levels of the healthy control group, EP-RPP group and RPP group gradually increased.The RPP group had the highest DHEAS levels.There was significant difference in DHEAS levels among the healthy control group, EP-RPP group and RPP group ( P<0.05). There was no significant difference in DHEAS levels among the EP-SPP group, CPP group and EP-RPP group( P>0.05). (4)The serum AMH and BMP-6 levels in the EP-RPP group, EP-SPP group, RPP group, CPP group and healthy control group were not significantly different( P>0.05). (5)The area under the ROC curve of serum IGF-1 levels was 0.765, the cut-off value was 232.5 μg/L, the specificity for the cut-off value was 83.30%, and the sensitivity was 75.00%.The combined area under the ROC curve of the serum FSH peak value and the ratio of serum FSH/LH peak values was 0.795. Conclusions:Serum IGF-1 levels and the combination of the serum FSH peak value and the ratio of serum FSH/LH peak values can be used as effective indicators of slowly and rapidly progressive puberty in early adolescent girls.Serum DHEAS cannot be used as an early warning index of RPP, but it plays a critical role in the regulation of puberty initiation and process.Serum DHEAS levels may be related to the Tanner stage.

Maternal death after postpartum onset of citrullinemia type Ⅰ: a case report / 中华围产医学杂志

This paper reports a woman diagnosed with citrullinemia type I (CTLNⅠ) in puerperium who was unfortunately died later. The 28-year-old patient (G1P1) delivered a live girl at 39 +2 gestational weeks and was transferred from a local hospital to Henan Provincial People's Hospital on January 11, 2020, due to "a 3-day paroxysmal confusion accompanied by dizziness 4 days after delivery". Intermittent confusion, elevated blood ammonia, and citrulline concentration, and encephaledema were presented 10 h after delivery, and the patient eventually died of cerebral hernia on the day of self-discharge. Two pathogenic mutations of the ASS1 gene were found by genetic testing, including c.422t>G (p.val141gl; HET) and c.431c>G (p.pro144arg; HET) and confirmed the diagnosis of CTLNⅠ. CTLNⅠ is a life-threatening disease that could be easily overlooked and misdiagnosed and was difficult to treat. It most often occurs in newborns and infants, whilst it is rare during pregnancy and postpartum. The possibility of this disease should be considered in patients with neurological system symptoms and elevated blood ammonia during pregnancy or puerperium.

Effects of pregnancy and lactation nonylphenol exposure on the changes of neuroimmune function in offspring mice and its related mechanisms / 中华微生物学和免疫学杂志

Objective:To investigate the effects of pregnancy and lactation nonylphenol (NP) exposure on the balance of Treg/Th17 cells in the brain of offspring mice and the related mechanisms.Methods:Thirty pregnant C57BL/6 mice were randomly divided into three groups: control group (drinking distilled water), and NP-treated groups (drinking 0.2 μg/ml or 2.0 μg/ml NP water solution). ELISA kit was used to analyze the levels of TNF-α, IFN-γ and IL-17, flow cytometry was used to analyze the frequency of Treg and Th17 cells in spleen, quantitative RT-PCR was used to analyze the RORγt, Foxp3 mRNA, Western blot was used to analyze the protein expression of RORγt, Foxp3 and PI3K/Akt/mTOR signal pathway, and immunofluorescence was used to analyze the expression of Iba1 in the brain tissue of offspring mice.Results:Compared with the control group, NP exposure increased the serum levels of IL-17 and TNF-α in male offspring mice ( P<0.05), and decreased the levels of IFN-γ( P<0.05). Flow cytometry analysis showed that the percentage of Th17 cells in the spleen of male offspring mice exposed to NP (0.2 μg/ml or 2.0 μg/ml) was significantly higher than that of the control group, while the percentage of Tregs cells was lower. Compared with the control group, the expression levels of Foxp3 proteins in the brain tissue of male offspring mice exposed to NP (0.2 μg/ml or 2.0 μg/ml) was significantly lower, accompanied by a dramatic increase in RORγt protein levels ( P<0.05). Similar mRNA expression was also observed in qRT-PCR analysis. The protein expression levels of mTOR (p-mTOR) and its upstream related regulators[PI3K, p-Akt (Ser473), p-Akt (Thr308)] in the brain of male offspring mice increased gradually during the period of exposure to NP( P<0.05). Immunofluorescence analysis showed that compared with the control group, the number of Iba1 positive cells in brain tissue of male offspring mice exposed to NP (0.2 μg/ml or 2.0 μg/ml) increased significantly ( P<0.05). Conclusions:Maternal exposure to NP during pregnancy and lactation may affect the development/function of neurons in offspring through neuroimmune axis, and increase the risk of neurodevelopmental disorders in offspring.

Effect of pregnancy on endothelial progenitor cells in patients with rheumatoid arthritis and its mechanism / 中华风湿病学杂志

Objective:To investigate the effect of pregnancy on endothelial progenitor cells (EPCs) in patients with rheumatoid arthritis (RA) and its mechanism.Methods:The newly treated RA patients in our hospital from January 2016 to June 2018, were included in this study. According to pregnancy or not, patients were divided into simple RA group and RA pregnancy group. They were all female patients, 30 in each group. Immunohistochemical staining was used to detect the number of lymphocyte common antigen (LCA) + lymphocytes and CD68 + macrophages in synovial tissue, flow cytometry was used to detect the proportion of EPC and endothelial cells, and enzyme-linked immunosorbent assay(ELISA) was used to detect the concentrations of vascular endothelial growth factor (VEGF), stromal cell derived factor (SDF-1), interleukin (IL)-6 and IL-10 in EPC supernatant. T-test was used for the comprarison between the two groups, and single factor analysis of variancewas used for the comparison between multiple groups. Results:Immunohistoche-mical results showed that the number of CD68 + macrophages and LCA + lymphocytes in synovium of RA with pregnancy group was significantly lower than that of non-pregnant RA group. The results of ELISA showed that the concentration of human leucocyte antigen-G (HLA-G) in peripheral blood was (8.9±1.7) pg/ml in non- pregnant RA group and (396.7±89.6) pg/ml in RA pregnancy group, the difference beween the two groups was statistically significant ( t=4.329, P<0.01). The results of flow cytometry showed that the proportion of EPC in lymphocytes was (0.13±0.03)% in non-pregnant RA group and (0.76±0.09)% in RA with pregnancy group, the difference beween the two groups was statisti-cally significant ( t=6.671, P<0.01). The results of correlation analysis showed that the proportion of EPC in peripheral blood was positively correlated with HLA-G concentration ( r=0.886 1, P<0.01). In vitro experiments showed that HLA-G could promote the recovery of EPC paracrine and differentiation function in RA patients. Conclusion:Pregnancy can improve the number and biological function of EPC in patients with RA. HLA-G may play an important role in this process.

Clinical and genetic analysis of Ulnar-Mammary syndrome caused by TBX3 de novo mutation in a boy and literature review / 中华内分泌代谢杂志

Objective:To investigate the clinical and genetic characteristics of a boy with Ulnar-Mammary syndrome(UMS), and to review the literature.Methods:The clinical and genetic data of a boy with UMS, who was admitted to the Department of Endocrinology, Genetics and Metabolism, Children′s Hospital of Soochow University in May 2018 were analyzed. Original papers on UMS published up to July 2019 were retrieved.Results:A male patient at the age of 12 years and 8 months visited us for growth retardation. He presented with high forehead, epicanthic folds, broad nasal tip, anteverted nostrils, high palate, dental crowding, mammary gland hypoplasia, and absence of axillary hairs, with height 148.9 cm(<-1 SD). Growth hormone stimulation test indicated growth hormone deficiency(growth hormone peak <5 ng/ml). After one year of treatment with recombinant human growth hormone, his height was improved. Gene sequencing identified a de novo heterozygous mutation of TBX3 c. 711DelC(p.N238Mfs* 4). According to ACMG guidelines in 2015, the mutation is pathogenic and has not been reported in the above databases.However, this mutation was not detected in his parents.Conclusion:UMS should be considered in dwarfism with special face, dysplasia of external genitalia, sweat glands, and mammary glands, and TBX3 is a pathogenic gene.

Fetal cardiac diverticulum: a case report / 中华围产医学杂志

We report a case of fetal cardiac diverticulum diagnosed by ultrasound in the second trimester in a patient who finally had an induced abortion. The 28-year-old pregnant woman went to the Department of Obstetrics of Henan Provincial People's Hospital due to a fetal cardiac abnormality found by ultrasound in a local hospital at 25 +3 gestational weeks. At 25 +4 gestational weeks, fetal echocardiography showed a suspected fetal pericardial cyst, and further MRI showed a left ventricular structure disorder. Fetal echocardiography performed at 25 +5 weeks of gestation identified a cystic echo in the pericardial cavity in the fetus's left-ventricular side, communicating with the left ventricle. A weakened pulsation of the left ventricle and fetal edema were also found. Intraamniotic injection of ethacridine was performed for induced abortion due to suspected fetal cardiac diverticulum at 26 weeks of gestation, and fetal left ventricular diverticulum was diagnosed by pathological examination. Copy number variation analysis showed a 744 kb duplication in p15.3p15.2 region of chromosome 11 with unidentified pathogenicity.

Clinical analysis of uterine arterial embolization combined with hysteroscopy in the treatment of cesarean scar pregnancy / 中国基层医药

Objective To investigate the clinical efficacy of uterine arterial embolization combined with hysteroscopy in the treatment of cesarean scar pregnancy.Methods From September 2016 to March 2018, 68 patients with cesarean scar pregnancy in the People's Hospital of He'nan Province were collected .According to different treatment methods ,the patients were divided into observation group and control group .The observation group (42 cases) firstly received bilateral uterine artery embolization ,then hysteroscopy pregnancy lesion was resected after 2 -3 days.The control group (26 cases) directly received hysteroscopy endoscopic pregnancy lesion resection . Results There were 42 cases in the observation group,2 cases(all of them III type)failed,of which 1 case was treated with laparoscopy ,and 1 case was converted to transvaginal focus clearance .In the control group ,26 cases of cesarean scar pregnancy were treated directly by hysteroscopy ,and 6 cases were failed(1 case of type I,4 cases of type II,1 case of type III),among which 3 cases were treated with uterine artery embolization .Then hysteroscopic surgery was performed in 2 cases,combined with laparoscopy for pregnancy focus debridement .One case of severe hemorrhage occurred in III type operation ,which was immediately converted to open operation .The operation time,intraoperative blood loss ,surgical success rate , length of hospital stay , blood β-HCG return to normal time , menstrual recovery time,postoperative vaginal bleeding , postoperative vaginal bleeding time in the observation group were ( 17.09 ± 3.62)min,(32.6 ±5.6)mL,95.2％(40/42),(4.76 ±1.63)d,(18.00 ±6.62)d,(30.28 ±4.23)d,(32.75 ± 8.32)mL,(3.26 ±1.06)d,respectively,which in the control group were (49.51 ±3.41)min,(60.3 ±13.6)mL, 76.9％(20/26),(7.23 ±1.96)d,(22.00 ±6.91)d,(36.41 ±7.62)d,(46.23 ±11.73)mL,(6.42 ±2.45)d, respectively,the differences between the two groups were statistically significant (t=36.68,14.09,χ2 =5.189,t=5.62,2.30,4.27,5.54,7.35,all P <0.05).Conclusion Bilateral uterine artery embolization combined with hysteroscopy in the treatment of cesarean scar pregnancy has some advantages including high successful rate , short operation time,less bleeding,hospitalization time and postoperative recovery ,etc.It is a safe and effective treatment especially for type I and type II scar pregnancy .