Objective By analyzing the clinical symptoms, heart rate ( HR) , arterial oxygen saturation ( SaO2 ) and the number of white blood cells (WBC), we aimed to explore the implication of the above-mentioned indexes for early warning of high altitude pulmonary edema ( HAPE) .Methods Based on the Lake Louise Self-assessmeat Scoring System ( LLSS) and the scoring of respiratory symptoms, 628 subjects were divided into three groups: group A ( the healthy;score<3),group B(acute mountain sickness, AMS; score>3 and excluding HAPE),and group C (HAPE).Moreover, we analyzed the incidence of some clinical symptoms, HR and SaO2 , as well as the WBC number of some subjects in the three groups.Results The incidence of respiratory symptoms and WBC number were significantly increased in group C compared with group B(P<0.05).In addition,unlike group A and B, the mean HR in group C rose gradually in the first 3 days and was markedly increased at the third day(F=6.37,P<0.05).The mean SaO2in group C was remarkably lower than in group A and B in the first 3 days(F=8.21,F=8.77,F=9.58,P<0.01).Conclusion Those who enter high altitude for the first time with notable respiratory symptoms, WBC increase, HR maladaptation and decrease in SaO2 (>30%) have high risk of HAPE.It is of special importance to detect HAPE earlier at high altitude.

ObjectiveTo explore the diagnostic value of Tei index of right ventricle and serum level of NT-proBNP in patients with high-altitude heart disease (HAHD).MethodsRight ventricle Tei index and serum NT-proBN level were calculated and tested in 32 local healthy volunteers and 34 cases of HAHD patients hospitalized in our hospital in Golmud city (2808 meters above sea level) from 2008 to 2010,and a correlation study was conducted thereafter.ResultsThe pulmonary arterial systolic pressure and right ventricle Tei index,elevated significantly in HAHD patients compared with the control group [(86.61 vs 9.72)mm Hg(1 mm Hg=0.133 kPa) and(0.90 vs 0.33)respectively,P＜0.05].Patients diagnosed as mild pulmonary hypertension without alteration in cardiac structure showed higher pulmonary arterial systolic pressure and the Tei index compared with the control group [( 57.1 vs 9.72 )mm Hg and (0.78 vs 0.33 ) respectively,P ＜ 0.05 ].In addition,the level of serum NT-proBNP was significantly higher in HAHD group than that of control group [( 1246.8 ± 512.6) ng/L and (98.6 ± 21.7 ) ng/L respectively,P ＜ O.05 ].ConclusionRight ventricle Tei index and serum NT-proBNP level are sensitive indicators for right ventricular function and thus of favorable clinical significance for the diagnosis of HAHD.

Objective To explore the clinical efficacy of modified single-portlaparoscopic radical prostatec-tomy(LRP) by atransperitoneal or extraperitoneal approach, and the impact of either approach on immune function in patients with prostate neoplasms. Methods The clinical data on 39 patients who had undergoneextraperitoneal LRP(group A) and 20 patients who had receivedtranperitoneal LRP (group B) in our department from January 2012 to December 2015 were retrospectivelyanalyzed. The prostate neoplasms were preoperatively diagnosed as cancer by ultrasound, CT or MRI, and pathological examinations. The clinical stage was T1-T2c , N0M0 in all patients.The efficacy was assessed by surgical duration, intraoperative blood loss, timeto intestinal function recovery, and post-operative hospital stay in both groups. The indicators for immune function including prostate specific antigen (TPSA and FPSA), immunoglobulin (IgG, IgA, lgM, C3, and C4) and T lymphocyte subsets (CD3+, CD4+, CD8+, CD4+/CD8+) in patientswith prostate neoplasms before and after surgery were detected. Results 59 patients were operat-ed successfully, without converting to open approach. The mean surgical duration, blood loss, time to intestinal function recovery, and postoperative hospital stay were (133.8 ± 68.6) min, (75.6 ± 51.3) mL, (2.2 ± 0.7) days, and (14.7 ± 3.6) days in group A, while (159.4 ± 78.1) min, (102.2 ± 70.8) mL, (2.9 ± 1.1) days, and (15.2 ± 4.1) days in group B. There were significant differences between the two groups (P<0.05). After surgery, levels of IgG, IgA, C3, C4, CD3+, CD4+and CD4+/CD8+were significantly higherin group Athan in group B (P < 0.05). There were no significant differences between the two groups in levels of TPSA, FPSA and lgM (P>0.05). Average postoperative follow-up was 15 months (range 3-36) in 36 patients. No recurrence or metastasis was found in all the patients by imaging studies,and no long-term complications were found. Conclusions Extraperitoneal LRP, as compared with tranperitoneal LRP, has clearer vision, fewer effects on abdominal organs, shorter surgical duration, less blood loss, faster postoperative recovery, and better protection of immune function. It is worth popularizing clin-ically.

Objective:To establish the method for detecting lower respiratory infections (LRIs) bacterialpathogens using nanopore sequencing, and evaluate the feasibility of this method.Methods:Bronchoalveolar lavage fluid (BALF) samples from 33 patients with LRIs who visited the Department of Respiratory and Critical Care Medicine of Beijing Hospital from July 2019 to September 2020 were collected.Nanopore 16S amplicon sequencing were performed on these samples. In order to evaluate the clinical value of the nanopore sequencing, χ 2 test was used to analyze the pathogen differences between the detection rate and pathogen types results found with using the nanopore 16S sequencing and the results found with bacterial culture. Results:The process and method of nanopore sequencing used in the detection of the LRIs pathogens were established. The pathogen detection rate of the 16S sequencing was higher than that of the traditional bacterial culture (75.8% [25/33], 45.5% [15/33], χ2=5.140, P<0.05). From the 25 positive samples found with nanopore 16S sequencing, 16 pathogens were detected, including Haemophilus parainfluenzae, Haemophilus influenzae, Streptococcus pneumoniae, Streptomonas maltophilia, Acinetobacter baumannii, and Acinetobacter junii, Staphylococcus aureus, Klebsiella pneumoniae, Enterococcus faecalis, Enterococcus gallinarum, Corynebacterium striatum, Mycobacterium paraintracellulare, Serratia marcescens, Achromobacter insuavis, Citrobacter murliniae and Mycoplasma pneumoniae. More than 6 pathogens were tested in clinical culture, including Haemophilus parainfluenzae, Acinetobacter baumannii, Pseudomonas aeruginosa, Staphylococcus aureus, Klebsiella pneumoniae and Streptomonas maltophilia (χ2=7.949, P<0.05). 16S sequencing aligned to species level sequences accounted for 80.0 (60.0, 86.0)% of the genus level. The results obtained by using16S sequencing and bacterial culture were consistent in 11 (33.3%) samples. Conclusions:Nanopore 16S amplicon sequencing can quickly identify pathogenic bacteria from BALF in LRIs patients. Nanopore 16S amplicon sequencing has a high detection rate, it can detect more pathogens than traditional bacterial culture, and it can also identify most bacteria to the species level. This technology is a very promising platform with broad application prospects.

Objective: To investigate the early diagnosis and treatment for burn complicated with severe paroxysmal sympathetic hyperactivity (PSH). Methods: Medical records of patients with burn complicated with severe PSH, admitted to our department from April 2016 to March 2019 and meeting the inclusion criteria were analyzed retrospectively. There were 4 males and 1 female, aged 17 months to 39 years, with an average of (21±16) years. During occurrence of PSH, the vital signs of patients were routinely monitored and oxygen were given. Other treatment included central venous catheterization and infusion of electrolyte solution, infusion of plasma according to patients′ condition, use of opioid analgesics and benzodiazepine sedatives, physical cooling and drug cooling, and establishment or maintenance of artificial airway and use of ventilator. Heart rate was controlled below 120 beats per minute in adults and 140 beats per minute in children with comprehensive treatment dominated by analgesia and sedation. Besides, single or multiple vasoactive agents, even in large doses were used to maintain normal blood pressure of patients. The occurrence characteristics, time, and treatment outcome of PSH were analyzed. Results: PSH happened rapidly, with a sharp increase in several minutes to dozens of minutes. Five patients were with symptoms such as high body temperature, shortness of breath, very fast heart rate, normal or elevated systolic blood pressure, hyperhidrosis, and dystonia at the onset. The symptoms occurred simultaneously or successively. According to the Clinical Feature Scale, the above-mentioned 6 indexes achieved the highest score of 3 points except of systolic blood pressure. Four patients showed dilated pupils and impaired consciousness. Among the patients, PSH occurred in the acute exudation stage in 3 patients, in the fluid reabsorption stage in 1 patient, and in the late repair stage in 1 patient. PSH of patients lasted for 3 hours to 12 days. The symptoms of 4 patients were effectively controlled, and 1 patient died of deterioration. No PSH occurred in the cured patients during follow-up of 3 to 14 months. Conclusions Burn complicated with PSH can occur at any time before wound repair and in patients with different injury conditions. The causes of PSH include sudden burn, persistent pain, fright and fear, strange environment, low blood volume, and other adverse stimuli, and PSH is more likely to occur in children with underdeveloped brain function. Intravenous infusion of analgesics sedatives, physical therapy and medication to lower body temperature, stabilizing blood pressure and respiration are effective measures to treat PSH. PSH should be distinguished from the common complications of burns, such as sepsis, cerebral edema, hyperpyretic convulsion, transfusion response, stress disorder, etc.

Objective To evaluate the efficacy and safety of transurethral laser shovel type vaporresection-enucleation of the prostate (LS-VREP) based on the inter-layer of surgical capsule for the treatment of benign prostatic hyperplasia (BPH),which was less 80 g weight.Methods From September 2013 to August 2016,a retrospective study was performed including 1 369 cases of BPH patients,who were treated by 120-160 W transurethral laser (straight green-light) shovel type vapor-resection-enucleation of the prostate (LS-VREP group,n =1 008) and transurethral resection of the prostate (TURP group,n =361).The preoperative data,including average age,prostate weight,IPSS,QOL,Qmax and PVR was reviewed.There was no significant difference of the above data between the two groups (P ＞ 0.05).Operative time,changes of hemoglobin and serum sodium concentration,postoperative bladder irrigation time,catheter indwelling duration,hospital stay,pre-and 3 months post-operative IPSS,QOL,Q PVR were recorded.In addition,complications were monitored.Results Mean operation time of LS-VREP group was (46.1 ± 18.6) min,while TURP group was (48.2 ± 15.2) min,and there was no difference between the two groups (P ＞ 0.05).Post-operative mean hemoglobin concentration and serum sodium concentration of LS-VREP group decreased (1.6 ± 1.2) g/L and (1.2 ± 0.6) mmol/L respectively,while those of TURP group decreased (5.7 ± 3.6) g/L and (3.2 ± 1.2) mmol/L,and the differences were statistically significant (P ＜ 0.05).Mean post-operative catheter indwelling time,and post-operative hospital stay of LS-VREP group was (42.9 ± 12.7) h and (3.2 ± 0.6) d,while TURP group was (65.7 ± 15.4) h and (5.4 ± 1.2) d,and the differences were statistically significant (P ＜ 0.05).Comparatively IPSS,QOL,Qmax and PVR were all improved significantly in both groups at 3 months after operation (P ＜ 0.05),but no significant difference was found between the two groups (P ＞ 0.05).After three months' follow-up of post-operation,as for the complication rate,including TURS,bleeding requiring reoperation,incontinence,dysuria and erectile dysfunction,LS-VREP group (15/1 008) was less than that of TURP group (30/361,P ＜ 0.05).Conclusions The LS-VREP based on the inter-layer of surgical capsule is safe and effective for the treatment of BPH patients whose prostate weight was less than 80 g.LS-VREP showed less intraoperative bleeding,faster postoperative recovery,and high safety,which is considered a safe,effective and optimized minimally invasive surgery.

OBJECTIVETo detect the disease-causing mutation in a pedigree affected with autosomal dominant congenital cataract.

METHODSGenomic DNA was extracted and purified from peripheral blood samples from members of the pedigree and 100 healthy controls. Coding regions of 18 candidate genes were screened with PCR and Sanger sequencing. Identified mutations were verified among 100 healthy individuals to exclude single nucleotide polymorphisms.

RESULTSA heterozygous nonsense mutation c.471G>A of the CRYGD gene, which resulted in p.Trp157Term, was identified in all three patients. The same mutation was not found in the two normal individuals from the family and 100 healthy controls. The nonsense mutation was predicted to be "disease causing" by Mutation t@sting program.

CONCLUSIONThe nonsense mutation c.471G>A of the CRYGD gene probably underlies the congenital cataract in the pedigree.

Cataract ; etiology ; genetics ; Child ; Codon, Nonsense ; Humans ; Male ; Sequence Analysis, DNA ; gamma-Crystallins ; genetics

OBJECTIVETo identify potential mutation of PHEX gene in two patients from a family affected with X-linked hypophosphatemia (XLH).

METHODSPCR and Sanger sequencing were performed on blood samples from the patients and 100 healthy controls. Reverse transcription-PCR (RT-PCR) was used to determine the mRNA expression in patient samples.

RESULTSA splicing site mutation, IVS21+2T>G, was found in the PHEX gene in both patients but not among the 100 healthy controls. RT-PCR confirmed that exon 21 of the PHEX gene was deleted.

CONCLUSIONThe novel splicing mutation IVS21+2T>G of the PHEX gene probably underlies the XLH in this pedigree. At the mRNA level, the mutation has led to removal of exon 21 and shift of the open reading frame (p.Val691fsx), resulting in premature termination of protein translation.

Adult ; Base Sequence ; DNA Mutational Analysis ; Exons ; Familial Hypophosphatemic Rickets ; genetics ; Female ; Genetic Diseases, X-Linked ; genetics ; Humans ; Male ; Middle Aged ; Molecular Sequence Data ; Mutation ; PHEX Phosphate Regulating Neutral Endopeptidase ; genetics ; Pedigree ; RNA Splicing ; Young Adult

OBJECTIVETo identify potential mutations of PKD1 gene in a family affected with autosomal dominant polycystic kidney disease (ADPKD).

METHODSThe coding regions of the PKD1 gene were subjected to PCR and Sanger sequencing. Reverse transcription-PCR (RT-PCR) was used to determine the relative mRNA expression in the patient.

RESULTSA splicing site mutation, c.8791+1_8791+5delGTGCG (IVS23+1_+5delGTGCG), was detected in the PKD1 gene in all 5 patients from the pedigree but not in 6 phenotypically normal relatives and 40 healthy controls. Sequencing of RNA has confirmed that there were 8 bases inserted in the 3' end of exon 23 of the PKD1 gene.

CONCLUSIONThe novel c.8791+1_8791+5delGTGCG mutation has created a new splice site and led to a frameshift, which probably underlies the ADPKD in the family. Above finding has enriched the mutation spectrum of the PKD1 gene.

Adult ; Female ; Humans ; Male ; Mutation ; genetics ; Pedigree ; Polycystic Kidney, Autosomal Dominant ; genetics ; RNA Splicing ; genetics ; TRPP Cation Channels ; genetics ; Young Adult

OBJECTIVE: To detect potential variants of MECP2 gene in three pedigrees affected with Rett syndrome (RTT). METHODS: All exons and their flanking regions of the MECP2 gene were subjected to Sanger sequencing and multiplex ligation-dependent probe amplification assay. RESULTS: The probands of pedigrees 1 and 2 have respectively carried a c.965C>G and a c.1157_1197del41 variant of the MECP2 gene, while the proband of pedigree 3 carried a heterozygous deletional variant in exon 4 of the MECP2 gene. CONCLUSION Variants of the MECP2 gene probably underlay the RTT in the three pedigrees. Above finding has enriched the spectrum of MECP2 gene variants, and provided a guidance for the patients upon preimplantation genetic testing and prenatal diagnosis.