Volume 99 ·  Issue 44 ·  2019

systemic lupus erythematosus (SLE) is the most common systemic autoimmune disease in China, with an incidence rate of 30.13~70.41/100,000 people. The kidney is the organ most commonly involved in SLE, and 40% to 60% of SLE patients have lupus nephritis (LN) at the beginning of the disease. In China, nearly half of SLE patients have complicated LN, which is higher than that of Caucasians^[1,2,3]It is the most common secondary immune glomerular disease in China^[4,5,6]。 LN is mainly caused by renal damage caused by circulating or in situ immune complex deposition, and a small portion of SLE is caused by non-immune complex pathway (such as lupus interstitial nephritis), or renal vascular disease damages the kidney. Genetic factors play an important role in the occurrence and development of SLE and LN, and influence treatment response and long-term prognosis^[7]。 At the same time, there are regional differences in the occurrence of LN in China, and the proportion of LN in SLE kidney injury increases with the decrease of latitude^[8], indicating that environmental factors play an important role in the occurrence of LN.

To explore the possibility of using coagulation factor Ⅱ and Ⅹ (FⅡ and FⅩ) for warfarin monitoring among Chinese pulmonary embolism patients.

Blood samples were collected from pulmonary embolism patients who were taking warfarin as anticoagulant and who were from Peking Union Medical Collaege Hospital during Mar 2016 and Oct 2018. Activity of coagulation factor Ⅱ/Ⅹ and International Normalized Ratio (INR) level were detected. Correction analysis was used to investigate the relationship between activity of coagulation factor Ⅱ/Ⅹ and INR. Receiver Operating Characteristic (ROC) curve was used to analyze the diagnostic ability of FⅡ and FⅩ.

A total of 157 blood samples were collected in this research. When 1.5≤INR≤3.0, FⅡ (r=-0.768, P<0.001) and FⅩ(r=-0.690, P<0.001) were in inverse correlations with INR. Area under ROC curve (AUC) for FⅡ and FⅩ was 0.961 and 0.965 (P<0.001) when we used INR<2.0 as the criteria of anticoagulant inadequacy. AUC of ROC for FⅡ and FⅩ was 0.885 and 0.890 (P<0.001) when we used INR≤3.0 as the criteria of not over-anticoagulation.

FⅡ and FⅩ activity can be used as the therapeutic markers of warfarin in Chinese pulmonary embolism patients.

To investigate the clinical characteristics of patients with chronic thromboembolic pulmonary hypertension (CTEPH).

CTEPH cases consecutively admitted into China-Japan Friendship Hospital from September 2015 to June 2019 were enrolled with prospective data collection. The medical histories, clinical characteristics, laboratory tests, imaging manifestation and hemodynamic parameters were analyzed. Patients were divided into high pulmonary vascular resistance (PVR) group and low PVR group according to the PVR level>1 000 dyn·s·cm^-5 or not, and clinical characteristics were compared between these two groups.

In the 148 cases of CTEPH, right heart catheterization was performed in 103 cases with mPAP (45.1±11.0) mmHg and PVR of (992±430) dyn·s·cm^-5. At diagnosis, 88 (59.5%) cases were in WHO functional class Ⅲ and 27 (18.2%) in class Ⅳ. Most common presenting symptoms were dyspnea (147, 99.3%), chest tightness (68, 45.9%), hemoptysis (42, 28.3%), syncope (30, 20.3%), and most common signs were P2 accentuation (95, 64.9%), edema (65, 43.9%), cyanosis (47, 31.8%), systolic murmur (44, 29.7%) and jugular vein distention (35, 23.6%). In 103 cases with right heart catheterization, 52 were in the low PVR group and 51 in high PVR group. Compared to the low PVR group, high PVR group patients had higher WHO functional class and more jugular vein distention (both P<0.05). In all the 148 cases, previous venous thromboembolism (VTE) was confirmed in 105 (70.9%) patients, with a higher prevalence of previous VTE in low PVR group than that in high PVR group (P<0.001). 30 (20.3%) patients had varicose veins of the lower extremities, and 21 (14.2%) had other thrombophilic disorders including antiphospholipid syndrome, protein C and S deficiency and antithrombin Ⅲ deficiency.

Dyspnea, P2 accentuation and edema are the most common clinical presentation of CTEPH. Previous history of VTE is common in CTEPH patients with thrombophilia in some cases.

To investigate the association of inducible co-stimulator (ICOS) and CD28 gene polymorphisms with pulmonary tuberculosis susceptibility.

In this case-control study, from Mar 2015 to Sep 2016, peripheral venous blood of 100 pulmonary tuberculosis patients (pulmonary tuberculosis group) in the Jintan People′s Hospital of Changzhou and 100 community physical examination volunteers (health control group) were collected. A total of 56 single nucleotide polymorphisms (SNP) in ICOS and CD28 sequences were selected and SNP genotype and allele frequency were analyzed using the next-generation sequencing technology. Association of these SNP with pulmonary tuberculosis susceptibility was investigated using linkage disequilibrium (LD) analysis and genetic models.

Among these 56 SNP, 23 SNP with Hardy-Weinberg equilibrium P (HWE-P) value<0.001 or minimum allele frequency<0.05 were kicked out. The frequencies of T allele and TT genotype of ICOS gene SNP locus (rs55663036), and GG genotype of CD28 gene locus (rs45620941) in tuberculosis group were significantly higher than those in healthy control group (allP<0.05). There was a strong linkage imbalance between rs45620941 at CD28 locus and rs56262258 (r²=0.757).

The polymorphisms of rs55663036 of ICOS gene and rs45620941 of CD28 gene are significantly associated with the risk of pulmonary tuberculosis.

To analyze the correlation between intracranial air and electrode displacement after deep brain stimulation. Compared the accuracy of the electrodes on both sides while bilateral intracranial air.

A total of 133 patients with bilateral DBS from February 2017 to February 2019 in neurosurgery department of the General Hospital of Northern Theater Command were included. A total of 266 electrodes were implanted, including 160 sides of subthalamic nucleus, 2 sides of ventromedial nucleus of thalamus and 104 sides of Globus pallidus interior. All patients underwent three-dimensional reconstruction of the head 2 hours after operation and 1 week after operation, which was fused with the preoperative surgical plan.The volume of the intracranial air is obtained by summing up the CT layer-by-layer measurements after surgery. The distance between the implanted electrode and the preoperative target on the X and Y axes in the target plane is measured.Values were expressed as means±SEM,and the t test was performed. Bivariate correlation analysis using linear correlation analysis.P<0.05 was considered statistically significant.

There was no statistically significant difference in the fusion error of the electrode between 2 hours and 1 week after surgery on the X-axis. But there was significant difference on the Y-axis. The difference between intracranial air volume and two fusion errors was not linearly correlated on X axis, but linearly positively correlated on Y axis.

Intracranial air volume is an important factor affecting the accuracy of DBS surgery. The larger intracranial air volume, the larger the displacement of electrodes on Y axis.

To detect the ideal treatment for acute ischemic stroke (AIS) patients with atrial fibrillation (AF) within 4.5 hours from onset.

A total of 95 AIS patients with AF was retrospectively analyzed from April 2014 to January 2019. Thirty patients (group A) were treated with endovascular treatment directly, 35 (group B) patients were treated with intravenous recombinant tissue plasminogen activator (rtPA) followed by endovascular treatment, and 30 (group C) patients were treated with intravenous rtPA only. There were no significant differences among the groups in baseline data as age, gender, underlying diseases, medication, National Institutes of Health Stroke Scale (NIHSS) score, time from onset to treatment. Modified thrombolysis in cerebral infarction (mTICI), Symptomatic hemorrhagic transformation (SICH), 90 d prognosis of modified Rankin Scale (mRS) and death were compared.

Recanalization (mTICI≥2b) was similar in group A and B (70.0% vs. 68.6%, P>0.05). SICH of group A (6.7%) was significantly lower than that of group B (31.4%, P<0.05), but similar with that of group C (13.7%, P>0.05). Prognosis (mRS≤2) was significantly better in group A (70.0%) than that in group B (37.1%) and group C (30.0%), both P<0.01. The mortality rate in group A (6.7%) was lower than that in group B (14.3%) and group C (20.0%) without statistically significant, both P>0.05.

AIS patients with AF within 4.5 hours from onset should receive endovascular treatment directly.

To determine independent factors of pregnancy in the recipient after frozen-thawed embryo transfer (FTET).

We performed a retrospective study of 431 patients who had undergone embryo transfer after oocyte donation (OD), in vitro fertilization and embryo cryopreservation between April 2009 and December 2018 at our Reproductive Center. Comparison of general data between clinical pregnant group and non-pregnant group; Logistic regression were used to identify independent factors of pregnancy. The ability of independent factors of pregnancy was assessed by receiver operating characteristics (ROC).

①Pregnancy rates were significantly higher in women with more embryos, more high-quality embryos, more transferred embryos and higher basalfollicular stimulation hormone(FSH) (P<0.05). Pregnancy rate of premature ovarian insufficiency (POI) (75.00%) was higher than advanced age (55.83%,P=0.005) and chromosome abnormality (56.86%,P=0.021). ②Using logistic regression analysis, the POI (OR=2.065, 95%CI=1.026-4.156), basal FSH(OR=1.499, 95%CI=1.072-1.959), high-quality embryos (OR=1.449, 95%CI=1.072-1.959) and transferred embryos (OR=2.583, 95%CI=1.519-4.391)were independent predictors of pregnancy (P<0.05). ③The ROC curves revealed the cut-off points of basal FSH was 19.28U/L for pregnancy, the areas under the curve of basal FSH was 0.627, 95%CI=0.572-0.680. According basal FSH and age, all patients were further divided into four groups, pregnancy rates were significantly higher in ≤40 years and FSH>19U/L group (P<0.05). We contain pregnancy rates and multiple pregnancy rates of two transferred embryos were higher than one (P<0.01).

This study supports that pregnancy rates of POI was higher than other infertility diagnosis needed OD. Pregnancy rates of two transferred embryos were higher than one, but multiple pregnancy rates was also higher than one.

To investigate the correlation between gastric bubble size and laryngopharyngeal reflux pattern in patients with laryngopharyngeal reflux disease(LPRD).

A total of 52 LPRD patients who underwent Dx-pH monitoring and anteroposterior chest radiography at the same time from February 2016 to November 2018 were retrospectively studied. Patients were devided into three position-related groups according to the Ryan score of upright and supine: isolated upright reflux(IUR), isolated supine reflux(ISR) and bipositional reflux(BR) groups. In addition, 13 healthy volunteers with negative pH monitoring were selected as the control group. Gastric bubble size and pH monitoring data among the four groups were compared. SPSS 24.0 was used for statistical analysis.

In all the 52 patients, 35 cases (67.3%) were classified as IUR, 9 cases (17.3%) as ISR, and 8 cases (15.4%) as BR. The height of gastric bubbles in the four groups were: IUR (26±14) mm, ISR (9±8) mm, BR (20±13) mm, control (17±15) mm, and statistical difference was found among the four groups(P=0.004). Post Hoc Multiple Comparisons found that IUR group had statistical difference between ISR group and control group (P=0.001, P=0.034 respectively). There was no statistical difference of gastric bubble width and area among the four groups(P=0.340, P=0.186 respectively). The ROC curve of the gastric bubble height with isolated upright and supine reflux patterns was obtained, and the optimal cutoff value of the gastric bubble height was 11 mm. Accordingly, we divided the patiens into two groups with high and low gastric bubble. LPRD reflux pattern distribution was significantly different between the two groups(P<0.001). The comparison of reflux parameters in pH monitoring also showed that the supine reflux parameters in the lower group were significantly higher than those in the higher group, and the upright reflux parameters in the higher group were significantly higher than those in the lower group(P<0.001).

The height of gastric bubble is significantly correlated with the reflux patterns in LPRD patients. The gastric bubble of patients with IUR is significantly higher than that of patients with ISR. Taking 11 mm as the cutoff value, patients with higher gastric bubble are more prone to upright laryngopharyngeal reflux, while those with lower gastric bubble are more prone to supine laryngopharyngeal reflux.

To analyze the relationship between the severity of esophageal acid reflux and esophageal motility, esophageal mucosal injury and morphological anatomy of gastroesophageal junction (GEJ) in patients with gastroesophageal reflux disease (GERD).

The clinicaldata of GERD patients who underwent 24 h pH-impedance monitoring, gastroscopy and high-resolution manometry (HRM) from January 2016 to January 2019 in the Gastroesophageal Surgery Department of PLA Rocket Force Characteristic Medical Center were retrospectively analyzed. The patients were divided into non-pathological acid reflux group, mild pathological acid reflux group and moderate to severe pathological acid reflux group according to the DeMeester score. The gender and age of each group were matched, with 60 cases in each group. Statistical analysiswas performed to analyze thedifferences in upper esophageal sphincter pressure, lower esophageal sphincter pressure (LES), LES length, length of ventral LES, percentage of ineffective swallowing, esophagitis, Hill grade of GEJ, and hiatus hernia (HH) in each group. The comparison and correlation analysis are also carried out between the groups.

The male-female ratio was 33/27, and the age was (57±13) years in each group. Non-parametric analysis showed that the LES pressure and the length of the ventral LES decreased with the severity of acid reflux, and there was a statistical difference (P= 0.033, P=0.015). The detection rate of HH by HRM increased significantly (χ²=0.001) as well. Esophagitis score increased with the severity of acid reflux and there was statistical difference (P<0.001).The detection rate of esophagitis increased significantly (χ²<0.001) as well. Hill grading score of GEJ increased with the severity of acid reflux, and there was statistical difference (P<0.001).The detection rate of HH by endoscopy increased significantly (χ²<0.001) as well. The correlation between DeMeester score and LES pressure, length of ventral LES, percentage of ineffective swallowing, esophagitis score, and Hill grade score were statistically significant (P<0.05).

The esophageal low motility (such as low LES pressure) and anatomical abnormalities (abdominal esophageal shortening, GEJ flabbiness, and even HH formation) of the GEJ regionare significantly associated with the severity of acid reflux. These factors may be important causes of increased acid reflux. In addition, the aggravation of acid reflux can also increase the incidence and severity of esophagitis.

This paper reports a family of hereditary coagulation factor VII deficiency and the results of genetic analysis. The proband detected c.1198 G>C (p.Val400Leu) and IVS6-1 G>A complex heterozygous mutations in the coagulation factor VII gene. The former has not been reported in Chinese Han population. Among them, the c.1198 G>C (p.Val400Leu) mutation came from the mother of the child; IVS6-1 G>A was from the father of the child. The IVS6-1 G>A mutation was a known pathogenic mutation, and the c.1198 G>C (p.Val400Leu) mutation was not detected in the 100 normal control population. According to the American Society for Medical Genetics and Genomics (ACMG) classification criteria and guidelines for genetic variation, the c.1198 G>C mutation is a probable pathogenic mutation. Proband coagulation factor VII gene c.1198 G>C (p.Val400Leu) and IVS6-1 G>A compound heterozygous mutation may be the genetic pathogenic factor of clinical hemorrhage symptoms in children.

This paper reports the diagnosis and treatment of a patient with eosinophilic gastroenteritis complicated with rectal mucosal prolapse syndrome. Eosinophilic gastroenteritis and rectal mucosal prolapse syndrome are rare diseases, which are easy to be misdiagnosed and missed. They need to be diagnosed according to medical history, symptoms, endoscopy and pathology. It is more rare for both to appear at the same time. Clinically, we have conducted comprehensive dialectics and analysis, and actively collaborated in multiple disciplines to diagnose and differentiate the disease. At the same time, we paid attention to the development and follow-up of the disease, and finally consolidated the diagnosis, active treatment and good prognosis.

A case of type I neurofibromatosis (NF-1) with family history was reported. He was admitted to hospital due to "intermittent dull pain in the upper abdomen for half a month". Abdominal enhanced CT and MRI examination considered malignant stromal tumor of small intestine, namely gastrointestinal stromal tumor (GIST). Surgical exploration and resection, the final pathological report: ileal stromal tumor with multiple metastases such as Flexion's ligament, serous surface of jejunum and terminal ileum; Local resection of the tumor in the proximal jejunal intestinal lumen confirmed that it was a jejunal neuroendocrine tumor (NET) with vascular invasion and peri-intestinal lymph node metastasis.

This article reports the clinical data of a case of fetal seal limb deformity caused by thalidomide in the treatment of vulvar Behcet's disease during pregnancy. Thalidomide is also known as "reaction stop". In recent years, with the in-depth research on its pharmacological mechanism, thalidomide and its derivatives have been proved to have strong immune regulation and inhibition of vascular formation, and have been widely used in the treatment of dermatology, immunology and tumors. However, its teratogenic effect is still an important issue that medical workers and women of childbearing age must pay attention to and prevent.

This elderly male was diagnosed with Legionella pneumonia by urine antigen detection. After treatment with moxifloxacin combined with azithromycin against Legionella, the patient's body temperature was normal, but dyspnea was not relieved, oxygenation and imaging were not improved, and it improved significantly after treatment with glucocorticoids, suggesting that glucocorticoids play a certain role in the treatment of delayed absorption of Legionella pneumonia.

Type Ⅰ hereditary prostate cancer was discovered in 1996. Its main characteristics are heritability, family history, and early onset (<55 years old), aggressiveness, poor prognosis, etc. Several studies have confirmed thatRNASELThe gene is a candidate gene for type I hereditary prostate cancer.RNASELGenes are important players in the signaling pathways of human innate immune mechanisms.RNASELThe protein encoded by the gene, RNase L, is a tumor suppressor, inhibits cell proliferation and migration, promotes cell senescence and apoptosis, inhibits androgen receptor signaling, induces interferon antivirus, and degrades RNA. At present, there have been clinical trials of DNA methyltransferase inhibitors such as AZA and immune checkpoint blockers such as Anti-CTLA-4mAb and PD-1/PD-L1 for prostate cancer immunotherapy.

Because of its unclear pathogenesis, difficulty in early diagnosis and limited treatment, ovarian cancer ranks among the tumors with high mortality. Its biological rhythm mechanism provides a new direction for the study of ovarian cancer. This paper reviews the research progress of rhythm gene family in the mechanism of epithelial ovarian cancer, treatment and drug resistance.