[Efficacy of one-stage total spondylectomy and circumferential reconstruction for axial tumors through a combined anterior retropharyngeal-posterior approach].

Objective: To elucidate the safety and efficacy of one-stage total spondylectomy and circumferential reconstruction through a combined anterior retropharyngeal-posterior approach for axial tumors. Methods: A total of 20 patients with axial tumor who received total spondylectomy through a combined anterior retropharyngeal-posterior approach in Tongji Hospital of Tongji Medical College of Huazhong University of Science and Technology from February 2006 to December 2018 were retrospectively analyzed. Anterior reconstruction was performed with a special-shaped titanium mesh or three-dimensional printed (3DP) implants. The degree of local pain and neurological function was assessed by the visual analogue scale (VAS) and Frankel classification systems, respectively. Status of internal fixation and local recurrence was analyzed by radiological examination during follow-up. Results: Among the 20 patients, 12 were male and 8 were female with a mean age of (59.1±11.0) years (31 to 72 years). The mean operation time was (605.0±60.1) minutes (430 to 700 minutes) with a mean intraoperative blood loss of (1 250±347) ml (800 to 2 400 ml). The mean postoperative hospital stay was (13.2±2.8) days (8 to 20 days), and mean follow-up duration was (37.2±14.2) months(14 to 66 months). Anterior reconstructions were performed with a special-shaped titanium mesh in 14 patients and with 3DP implants in another 6 patients. Posterior occipital-cervical fixation was performed in 5 patients, while cervical fixation only in another 15 patients. The mean VAS score of pain at the last follow-up decreased significantly when compared with that before operation (1.6±0.6 vs 7.1±1.1, P<0.001). Nine patients with neurological deficits indicated significant improvement by at least 1 level at the last follow-up; among them, 2 cases of Frankel B improved to Frankel C and D, respectively; 3 cases of Frankel C all improved to Frankel D, and 4 cases of Frankel D improved to Frankel E. The perioperative complications included: 2 cases of vertebral artery injury, 2 cases of dysphagia, 3 cases of hoarseness and cough, 2 cases of cerebrospinal fluid leakage, and 1 case of greater occipital neuralgia. At the last follow-up, 5 patients died and 3 patients relapsed. Only 1 case suffered fixation failure due to local recurrence at the last follow up. Conclusions: One-stage total spondylectomy and circumferential reconstruction through a combined anterior retropharyngeal-posterior approach is safe and effective for axial tumors with favorable clinical outcomes and minor complications. Circumferential reconstruction with special-shaped titanium mesh or 3DP implant and posterior fixation can effectively reconstruct mechanical stability.

[The role of preventive pancreatic duct stent placement in preventing acute pancreatitis after endoscopic retrograde cholangiopancreatography].

The aim of this study was to investigate the preventive effect of pancreatic duct stent on acute pancreatitis after endoscopic retrograde cholangiopancreatography. A retrospective analysis of the case data of patients who first underwent endoscopic retrograde cholangiopancreatography for choledocholithiasis in the Beijing Friendship Hospital from January 2015 to December 2019 for 5 years. According to whether the pancreatic duct stent was indwelled during the operation, they were divided into pancreatic duct stent group (147 cases) and non-indwelling pancreatic duct stent group (192 cases). The incidence of acute pancreatitis after endoscopic retrograde cholangiopancreatography was compared between the two groups according to COTTON criteria. Independent sample t test, Pearson Chi-square test (χ2) and Fisher's exact test were used to compare groups' differences. There were 2 cases of acute pancreatitis in the pancreatic duct stent group, all of which improved after 48 hours. There were 22 cases of acute pancreatitis in the non-indwelling pancreatic duct stent group, of which 20 cases improved within 48 hours, and the other 2 cases had severe pancreatitis, which improved and discharged after 30 days of treatment. There was significant difference in the incidence of acute pancreatitis between the pancreatic duct stenting group (1.4%) and the group without placement of pancreatic duct stents (11.5%) (χ²=12.905,P<0.001). In conclusion, Pancreatic duct stent may be an effective method to prevent PEP.

LncRNA SNHG4 promotes neuroblastoma proliferation, migration, and invasion by sponging miR-377-3p.

Long non-coding RNAs (lncRNAs) have been demonstrated to act as essential regulators in the growth and progression of neuroblastoma. In the present research, the high expression of lncRNA small nucleolar RNA host gene 4 (SNHG4) in neuroblastoma was tested via quantitative reverse transcription-polymerase chain reaction (qRT-PCR), and then the function of SNHG4 was explored and verified by CCK-8 assay, EdU assay, cell cycle assay, cell apoptosis test, wound healing test and invasion test in neuroblastoma cell lines. It was discovered that lncRNA SNHG4 exhibited high expression in neuroblastoma tissues and cell lines, and the expression of SNHG4 was associated with the survival of neuroblastoma patients. Additionally, SNHG4 decrement markedly repressed neuroblastoma cells to proliferate and stimulate their apoptosis in vivo and in vitro. Moreover, SNHG4 decrement impeded the abilities of SH-SY5Y and IMR-32 cells to migrate and invade as well as epithelial-mesenchymal transition (EMT). In mechanism, we found that SNHG4 acted as a competing endogenous RNA to sponge miR-377-3p, which was downregulated in neuroblastomas and inhibited cell proliferation and invasion. The findings manifested that SNHG4 was inversely associated with miR-377-3p expression in neuroblastoma cases. Collectively, we revealed the functions of SNHG4 and miR-377-3p in neuroblastoma.

[Acute kidney injury diagnosed by elevated serum creatinine increases mortality in ICU patients following non-cardiac surgery].

Objective: To analyze whether acute kidney injury (AKI) patients diagnosed by elevated serum creatinine had a higher risk of in-hospital mortality following non-cardiac surgery compared with those diagnosed by oliguria alone according to Kidney Disease: Improving Global Outcomes (KDIGO) criteria. Methods: This was a secondary analysis of a previous retrospective cohort study. A total of 729 consecutive adult patients with high risk of AKI admitted to the intensive care unit (ICU) of Peking University First Hospital after non-cardiac surgery were enrolled in the previous study from July 2017 to June 2018. Postoperative AKI patients were diagnosed and categorized according to KDIGO criteria. In this secondary analysis, all patients with AKI were selected. Patients diagnosed by elevated serum creatinine were enrolled into the AKI-Scr group, while those with oliguria alone were included in the AKI-UO group. A multivariable logistic regression model was established to assess the relationship between elevated serum creatinine and in-hospital mortality in AKI patients. Results: Of 188 AKI patients [(71±14) years, 114 males (60.6%)], 72 (38.3%) and 116 (61.7%) patients were enrolled in AKI-Scr and AKI-UO group, respectively. The rate of in-hospital mortality was 16.7% in AKI-Scr group, which was significantly higher than that in AKI-UO group (0.9%, P<0.001). Furthermore, patients in AKI-Scr group had longer postoperative hospital and ICU stay, more duration of mechanical ventilation and higher total medical costs (all P<0.05). Multivariate logistic regression analysis revealed that AKI-Scr (OR=20.286, 95%CI: 2.544-161.797, P=0.004) and preoperative hypoproteinemia (OR=4.897, 95%CI: 1.240-19.329, P=0.023) were independent risk factors for in-hospital mortality in postoperative AKI patients. Conclusions: AKI patients diagnosed by increased serum creatinine had a higher risk of in-hospital mortality following non-cardiac surgery, accompanied by several worsen short-term outcomes and higher total medical costs, compared with those diagnosed by oliguria alone according to the KDIGO criteria. More attention should be paid to AKI patients diagnosed by elevated serum creatinine, to improve the prognosis.

[Clinical and radiographic evaluation of oblique lumbar interbody fusion combined with posterior surgery via Wiltse approach for adult degenerative scoliosis].

Objective: To assess the clinical effect of oblique lumbar interbody fusion (OLIF) combined with posterior surgery via Wiltse approach for adult degenerative scoliosis. Methods: The clinical data of 27 patients with adult degenerative scoliosis who received OLIF operation from April 2015 to June 2018 in Tongji Hospital were analyzed retrospectively. There were 17 males and 10 females with an average age of (54±11) years. All patients were treated with OLIF combined with pedicle screw fixation via Wiltse approach. Operation time, blood loss and surgery complications were all recorded. Clinical and radiographic evaluation were investigated at 1 week, 3 months of post operation and final follow-up. Visual analog scale (VAS) for low back pain and leg pain, Oswestry disability index (ODI) for low back pain were used to evaluate the clinical efficacy of surgery. Lumbar coronal cobb angle, lumbar lordosis (LL), pelvic tilt (PT), mismatch of PI and PT, sagittal vertical axis (SVA) were investigated with full spine standing X-ray. The data were compared with factor analysis of variance. Results: All patients were followed-up for 6-52 months ((30±5) months). The operation time was (235±33) min, the blood loss was (433±62) ml. VAS for low back pain and eg pain and the ODI were significantly improved from 6.8±1.4, 7.3±1.4 and 71%±11% preoperatively to 1.1±1.2, 1.0±0.9 and 17%±6% at the latest follow-up (F=115.302,139.855,291.198, all P<0.05).Lumbar coronal Cobb angle of patients was reduced from 28°±8° preoperatively to 9°±4° at the latest follow-up (F=66.352, P<0.05). The LL was significantly increased from 20°±11° preoperatively to 33°±7° (F=17.678, P<0.05), and PT, PI-LL and SVA were significantly increased from 31°±6°,35°±12° and (90±29) mm preoperatively to 26°±5°, 21°±6° and (32±17) mm at the latest follow-up (F=6.211,23.809,53.372, all P<0.05). There was no severe vascular andnerve injuries during and after operation. Conclusion: OLIF combined with posterior surgery via Wiltse approach is a safe and effective operation in the treatment of adult degenerative scoliosis with mild to moderate sagittal imbalance, it can correct the coronal and sagittal deformity, and achieve less surgery injury, less complications and good clinical results.

[A novel mutation of SCN4A gene causes hypokalemic periodic paralysis in a Chinese family].

Objective: To report a Chinese family with hypokalemic periodic paralysis (HOKPP) and investigate the clinical and pathogenic gene characteristics of the family. Methods: The clinical, electrophysiological and pathological data of the proband of the family were analyzed, and the information of the family was investigated in detail. The peripheral venous blood of the six members of the family was collected and their genomic DNA was extracted. The genes related to periodic paralysis analysis of the proband were performed by the second generation sequencing. The pathogenicity of the mutant protein was respectively analyzed by the bioinformatics software SIFT, Polyphen2 and Mutation Tasker. The cosegregation analysis of phenotype and genotype of the family was performed by the first generation sequencing. Results: There were 3 patients in the family with the onset age of 21 to 42 years old. All the patients manifested with vomiting as the first symptoms, then presented with muscle weakness accompanied by muscle soreness. The muscle weakness gradually relieved in 3 to 5 days. Creatine kinase (CK) of the proband significantly increased. Electromyographic exercise test was positive, however, electromyography and muscle pathological analysis were normal. The genes related to periodic paralysis analysis of the proband found a novel mutation (c.2458A>T (p.N.820Y)) of SCN4A gene which was located in the conservative region. The function analysis showed it was a pathogenic mutation. Moreover, the first generation sequencing confirmed that the mutation was cosegregated with patients in the family. Meanwhile, it was found that the proband's son carried the same mutation, but without any symptom, indicating that he was a pre-symptomatic patient. Conclusions: Vomiting can be one of the symptoms of the patients with HOKPP. The novel mutation of SCN4A gene c.2458 A>T is the pathogenic mutation of the family. Patients with periodic paralysis should be tested for blood potassium and genes as early as possible to facilitate early diagnosis and genetic counseling.

[Efficacy of biventricular pacing on preventing heart failure in patients with high degree atrioventricular block (BIVPACE-AVB Trial)].

OBJECTIVE: To investigate the long-term effect of biventricular (BIV) and right ventricular apical (RVA) pacing on cardiac function in patients with high-degree atrioventricular block (AVB) and left ventricular ejection fraction(LVEF)over 35%. METHODS: A total of 118 consecutive patients with high-degree AVB in six hospitals from East China between May 2009 and December 2012 were enrolled in this randomized, double-blind and parallel controlled study. Patients were randomly assigned to BIV and RVA pacing with or without LV lead on after one-week cardiac resynchronization therapy (CRT). Cardiac function including New York Heart Association(NYHA), 6 minute walking distance (6MWD), Minnesota living with heart failure (MLHF) score, LVEF, left ventricular end-diastolic volumes/diameters (LVEDV/LVEDD) and other echocardiography parameters, as well as N-terminal pro-B-type natriuretic peptide (NT-proBNP)were assessed at 6 months and 12 months. RESULTS: A total of 114 patients were successfully implanted with CRT. Cardiac function was significantly improved after one-week BIV pacing (n=57) compared with pre-CRT: rate of patients with NYHA Ⅲ (25.44%(29/114) vs. 9.65%(11/114)), MLHF score (17.1±13.6 vs. 26.9±21.6), 6MWD ((315.4±121.8)m vs. (291.8±102.9)m) and NT-proBNP (157.0(70.0, 639.0) ng/L vs. 444.7(144.0, 1 546.0)ng/L, all P<0.05). In BIV group, 6MWD extended from (314.8±142.7)m to (332.7±117.5)m at 6 months (P<0.05), LVEF increased from (60.7±7.9)% at 1 week to (56.6±10.7)% at 6 months(P<0.05), both LVEDV and LVEDD decreased at 12 months compared with at 1 week ((116.2±39.5)ml vs. (131.4±49.6)ml and (50.2±5.6)mm vs. (52.5±6.8)mm, P<0.05). In RVA group (n=57), 6MWD increased at 6 months compared that at 1week ((342.4±109.9)m vs. (310.2±105.1)m, P<0.05), NT-proBNP was higher at 12 months than that at 1 week (349.5(191.8, 884.3)ng/L vs. 127.0(70.3, 336.7)ng/L, P<0.05). Compared with RVA group, BIV group had a bigger shrink in LVEDV decrease at 12 months was more significant in BIV group ((-16.68±24.30)ml vs. (9.09±29.30)ml, P<0.05). CONCLUSIONS: Cardiac pacing could acutely improve the cardiac function in patients with high-degree AVB and LVEF over 35%. Improvements on cardiac function and remodeling are more significant after 12-month BIV pacing than that of RVA pacing. Clinical Trail Registry: Chinese Clinical Trial Registry, ChiCTR-TRC-10000832.

Effects of L-tryptophan, Fructan, and Casein on Reducing Ammonia, Hydrogen Sulfide, and Skatole in Fermented Swine Manure.

The effects of daily dietary Bacillus subtilis (Bs), and adding L-tryptophan, fructan, or casein to fecal fermentation broths were investigated as means to reduce the production of noxious gas during manure fermentation caused by ammonia, hydrogen sulfide (H2S), and 3-methylindole (skatole). Eighty swine (50.0±0.5 kg) were equally apportioned to an experimental group given Bs in daily feed, or a control group without Bs. After 6 weeks, fresh manure was collected from both groups for fermentation studies using a 3×3 orthogonal array, in which tryptophan, casein, and fructan were added at various concentrations. After fermentation, the ammonia, H2S, L-tryptophan, skatole, and microflora were measured. In both groups, L-tryptophan was the principle additive increasing skatole production, with significant correlation (r = 0.9992). L-tryptophan had no effect on the production of ammonia, H2S, or skatole in animals fed Bs. In both groups, fructan was the principle additive that reduced H2S production (r = 0.9981). Fructan and Bs significantly interacted in H2S production (p = 0.014). Casein was the principle additive affecting the concentration of ammonia, only in the control group. Casein and Bs significantly interacted in ammonia production (p = 0.039). The predominant bacteria were Bacillus spp. CWBI B1434 (26%) in the control group, and Streptococcus alactolyticus AF201899 (36%) in the experimental group. In summary, daily dietary Bs reduced ammonia production during fecal fermentation. Lessening L-tryptophan and increasing fructan in the fermentation broth reduced skatole and H2S.

Genetic polymorphisms of the TLR4 gene and their association with susceptibility to type 2 diabetes mellitus in the Chinese population.

Toll-like receptor 4 (TLR4) is potentially an important gene affecting the susceptibility to type 2 diabetes mellitus (T2DM). The objective of this study was to evaluate whether genetic polymorphisms of the TLR4 gene are associated with T2DM susceptibility. This potential association was analyzed in 668 T2DM patients and 672 healthy controls by polymerase chain reaction-restriction fragment length polymorphism and DNA sequencing methods. Two novel genetic polymorphisms (g.12375A>G and g.14367G>A) were investigated, and our data support the idea that the g.14367G>A variant significantly increased susceptibility to T2DM in homozygote comparison (AA vs GG: OR = 2.396, 95%CI = 1.682-3.413, P < 0.0001), heterozygote comparison (GA vs AA: OR = 1.322, 95%CI = 1.050-1.664, P = 0.0175), dominant model (AA/GA vs GG: OR = 1.511, 95%CI = 1.217-1.876, P = 0.0002), recessive model (AA vs GA/GG: OR = 2.093, 95%CI = 1.496-2.927, P < 0.0001), and allele contrast (A vs G: OR = 1.503, 95%CI = 1.279-1.766, P < 0.0001). The allele A of g.14367G>A variants may contribute to the susceptibility to T2DM. However, we failed to detect a similar significantly increased susceptibility to T2DM in the g.12375A>G variant. Our findings suggest that the g.14367G>A genetic polymorphism of the TLR4 gene is associated with the susceptibility to T2DM in the population studied.

Comparison of pharmacokinetics in beagle dogs of nimesulide bilayer tablets with dispersible tablets.

The purpose of this study was to compare the in vitro release and the in vivo pharmacokinetics of bilayer tablets with the conventional dispersible tablets of nimesulide. The tablets were administered to beagle dogs and the plasma levels of nimesulide were determined by high-performance liquid chromatography-MS/MS. The pharmacokinetic parameters were calculated using a noncompartmental model. The bilayer tablets showed a biphasic in vitro release pattern with initial burst release and sustained release following the quasi-Fickian diffusion-based release mechanism. The C(max), t(max), mean residence time (MRT), and area under the curve from 0 to 36 h were 10.8 ± 4.2 µg/mL, 2.3 ± 1.0 h, 6.7 ± 2.1 h, 81.5 ± 26.7 µg·h/mL for the bilayer tablets and 14.8 ± 5.8 µg/mL, 2.7 ± 0.8 h, 5.6 ± 0.9 h, 95.4 ± 44.2 µg·h/mL for the dispersible tablets. Compared with the dispersible tablets, the bilayer tablets have lower C(max), similar t(max), and longer MRT. The aforementioned pharmacokinetic parameters, especially the MRT demonstrated to be valuable for evaluating the biphasic characteristics. This study provides a promising in vivo evaluation method for the bilayer tablets with biphasic release pattern.

Author Correction: BHMT polymorphism and susceptibility to PTE in Chinese patients.

Correction to: Eur Rev Med Pharmacol Sci 2023; 27 (9): 4098-4102. DOI: 10.26355/eurrev_202305_32317-PMID: 37203835-published online on May 15, 2023. After publication, the authors applied a correction in the Funding section. The section has been amended as follows: This study was supported by the research program of Jilin Provincial Science and Technology Department (No. 20190201011J). There are amendments to this paper. The Publisher apologizes for any inconvenience this may cause. https://www.europeanreview.org/article/32317.

BHMT polymorphism and susceptibility to PTE in Chinese patients.

OBJECTIVE: Pulmonary thromboembolism (PTE) is as a common form of venous thrombosis and a potentially fatal cardiovascular disorder, which has become a severe clinical problem with high incidence and mortality. The PTE has a strong genetic basis, which contributes up to half of the variance in PTE incidence and susceptibility single-nucleotide polymorphisms (SNPs) is associated with PTE. Betaine homocysteine methyltransferase (BHMT) is an essential enzyme that catalyzes the remethylating reaction from homocysteine to methionine and participates in conserving methionine and detoxifying homocysteine. In this work, we aimed to explore BHMT polymorphism and susceptibility to PTE in Chinese patients. PATIENTS AND METHODS: Variant loci of the BHMT gene were screened in serum samples of PTE patients, followed by verification using Sanger sequencing. These polymorphic loci were validated in 16 PTE patients and 16 matched normal patients. The frequency differences between the allele and genotypes were compared using the Hardy-Weinberg equilibrium test and Chi-square test. RESULTS: A SNP was identified in PTE patients and a heterozygous transition of G>A (Arg239Gln) in rs3733890 was found. The variance difference at rs3733890 between normal patients (2/16, 0.125) and PTE patients (9/16, 0.5625) was significant (p<0.01). CONCLUSIONS: Therefore, we concluded that the BHMT polymorphism, rs3733890 may be a susceptibility SNP for PTE.

Effects of buccal bi-cortical anchorages on primary stability of dental implants: a numerical approach of natural frequency analysis.

The purpose of this study was to investigate influences of buccal bi-cortical anchorages on natural frequency (NF) values of dental implants in different diameters utilizing the three-dimensional finite element method. Three degrees of buccal bi-cortical engagements were generated in D2 and D3 bone quality models, which were 0-mm engagement (i.e. implants just had contact with the buccal cortex), 0.5-mm (i.e. implants were penetrated into the buccal cortex by 0.5 mm) and 1.0-mm engagement, while only 0- and 0.5-mm engagement were simulated in D4 bone models. The uni-cortical engagement was set as the control. By the modal analysis, NF values of bending and axial vibration mode were computed as a function of different bi-cortical engagements. The results showed that buccal bi-cortical anchorages significantly enhanced bending and axial NF values. The increasing rates resulting from 0.5-mm engagement ranged from 10.5 to 42.3%, with a mean of 24.3%. From 0- to 0.5-mm engagement, the NF values maintained an increasing trend, and from 0.5- to 1.0-mm engagement, the values levelled off or even decreased. In 0.5- and 1.0-mm engagement models, increasing implant diameter resulted in small increases of NF values. In conclusion, buccal bi-cortical anchorages could significantly increase both bending and axial NF values of dental implants, but extra-buccal cortical bone engagement could not produce considerable incremental increases of NF values as anticipated. Increasing implant diameter could result in limited increases of NF values in case of implants being bi-cortically anchored.

MiRNA-206 inhibits proliferation of renal clear cell carcinoma by targeting ZEB2.

OBJECTIVE: The purpose of this study was to investigate the effect of microRNA-206 on the malignant progression of renal clear cell carcinoma (RCC). In addition, whether microRNA-206 could regulate ZEB2 expression and the underlying mechanisms was also explored. PATIENTS AND METHODS: Quantitative Real Time-Polymerase Chain Reaction (qRT-PCR) was performed to examine microRNA-206 level in 46 tumor tissue specimens and adjacent ones of RCC patients. Also, the relationship between microRNA-206 expression and clinical indicators of RCC was analyzed. The negative control (NC) and microRNA-206 mimics were transfected into RCC cell lines, and the transfection efficiency was verified by qRT-PCR. The effects of microRNA-206 on the proliferation and apoptosis of RCC cells were analyzed by cell counting kit-8 (CCK-8), clone formation, and flow cytometry assays. Finally, the regulation of microRNA-206 on the downstream gene ZEB2 was indicated by Western Blot and cell recovery experiments. RESULTS: qRT-PCR results showed that the expression level of microRNA-206 in tumor tissue samples of RCC patients was remarkably lower than that in adjacent normal tissues, and the difference was statistically significant. Meanwhile, compared with patients with high expression of microRNA-206, the pathological stage of patients with low expression of microRNA-206 was higher, and the overall survival rate was lower. In the RCC cell lines (Caki-1 and Caki-2), the cell proliferation ability of the microRNA-206 overexpression group was remarkably weakened, while the cell apoptosis rate was oppositely enhanced when compared with the NC group. In addition, this study demonstrated that ZEB2 expression was remarkably increased in RCC cells as well as tissues and was negatively correlated with microRNA-206 expression. At the same time, microRNA-206 mimics was found remarkably reduced in the expression of proteins in ZEB2-related signaling pathway, including ZEB2, ß-catenin, cyclinD1, c-Myc, MMP-2, and MMP-9. In the cell reverse experiment, the overexpression of ZEB2 was found to be able to counteract the impact of microRNA-206 mimics on RCC cell proliferation and apoptosis and thus, participated in the malignant progression of RCC. CONCLUSIONS: This study revealed that microRNA-206 was remarkably associated with the pathological stage and poor prognosis of RCC patients. In addition, microRNA-206 might inhibit the malignant progression of RCC by regulating the targeted ZEB2.

[Clinical phenotypes of hepatocyte nuclear factor 1 homeobox b-associated disease].

Objective: Hepatocyte nuclear factor 1 homeobox b (HNF1B) -associated disease is an autosomal dominant inherited disorder with a variable, multi-systemic phenotype. In China, five adult probands and one child proband with HNF1B-associated disease had been reported, whereas few fetuses are described. The aims of this retrospective study were to understand about the clinical manifestations of HNF1B-associated disease and to further improve the recognition of this disorder. Method: Four patients (3 males, 1 female) and three fetuses with HNF1B mutations were included in this study. They were admitted to our hospital from January 2013 to March 2017. HNF1B mutations were detected using targeted next generation sequencing and quantitative real-time PCR or Sanger sequencing. HNF1B heterozygous deletion of exons 1-9 was found in 4 patients and 2 fetuses, and HNF1B heterozygous missense mutation in 1 fetus. These two mutations had been reported. Two patients and 1 fetus had de novo mutations. Results of renal ultrasonography with or without magnetic resonance imaging, biochemical investigations, urine routine examination and other necessary investigations in 7 cases were analyzed. Result: Three patients were Han Chinese ethnicity, and one patient was Mongolian. In patients 1 and 4, abnormal fetal kidneys were discovered by routine ultrasonography, and the age at first feature identified in Patients 2 and 3 were 13 years and 28 years. Patient 3 had normal renal function and the remainder had reduced glomerular filtration rate. In addition, patient 4 presented with nephrotic syndrome and glycosuria, patient 2 with early onset hyperparathyroidism and renal osteodystrophy, and patient 3 with diabetes mellitus. All the 4 patients had renal structural abnormalities including bilateral multiple renal cysts, dysplasia and hyperechogenic kidneys. Only patient 3 had a positive family history of renal diseases, the remainder had a negative family history of renal diseases. In 3 fetuses, prenatal ultrasound anomalies were detected during the second trimester. These 3 fetuses had hyperechogenic kidneys with or without renal cysts. Polyhydramnios was detected in only one of the 3 fetuses. Two of the 3 fetuses had a positive family history of renal diseases. Conclusion: Clinical phenotypes of HNF1B-related disease are heterogeneous, renal malformations clearly appear to be the most common manifestation, multiple renal cysts are characteristic, and patients can progress to impaired kidney function during childhood; HNF1B mutation is a differential diagnosis of fetal hyperechogenic kidneys or multiple renal cysts.

[Effect of specific immunotherapy on the psychological health level and quality of life in patients with allergic rhinitis].

Objective: To study the effect of specific immunotherapy on the psychological health level and quality of life in patients with allergic rhinitis(AR).Method:Selected 97 cases diagnosed as moderate to severe persistent AR patients, were treated with specific immunotherapy for one year. All patients received the evaluation with symptom check list 90(SCL-90) and rhinoconjunctivitis quality of life questionnaire(RQLQ) before specific immunotherapy, six, and 12 months after specific immunotherapy.Result:The total scores, scores of somatization, obsessive, anxiety, depression and phobia in SCL-90 of AR patients after 12 months treatment were significantly lower than that before treatment（P < 0.05）. Total score of quality of life and subitem score in RQLQ of AR patients after 12 months treatment were obviously lower than that before treatment (P < 0.05）.Conclusion:Specific immunotherapy can effectively alleviate the clinical symptoms and improve psychological health level and quality of life of AR patients.

Levels of cytochrome P-450-mediated aryl hydrocarbon hydroxylase (AHH) are higher in differentiated than in germinative cutaneous keratinocytes.

Induction of microsomal aryl hydrocarbon hydroxylase and cytochrome P-450 was observed in epidermal cells obtained from the skin of newborn rats exposed to benz(a)anthracene by topical exposure and in submerged cultures exposed to the procarcinogen in vitro. The level of aryl hydrocarbon hydroxylase activity was increased 2.5-fold in vivo and six- to sevenfold in vitro when the measurements were made on the entire epidermis or the entire culture, respectively. However, separate measurement on germinative (basal) and on differentiated cells revealed that AHH was sevenfold higher in differentiated cells as compared with basal cells in the skin of both unexposed animals and animals exposed in vivo. Similar results were obtained in cultured cells exposed in vitro. Immunocytochemical staining of sections of skin from animals exposed to benz(a)anthracene in vivo with a monoclonal antibody generated against cytochrome P-450c showed a higher binding of the antibody in lower spinous cells than in basal cells in the epidermis. Although more stained cells were observed in exposed cultures than in untreated cultures, the antibody, which inhibits at least 85% of the hydroxylase activity in the skin, inhibited only 6%-16% of the activity in culture. These observations support the interpretations that a) differentiated keratinocytes have a higher capacity in the metabolic activation of PAH than do germinative cells, although both types of cell are susceptible to induction of cytochrome P-450 by exposure to BA, and b) the cytochrome P-450 induced by exposure of epidermis to benz(a)anthracene in vivo exhibits some differences from the one induced upon exposure of keratinocytes to this procarcinogen in vitro.