Objective To investigate the therapeutic effect of three-dimensional interactive reduction of femoral neck and shaft in treatment of irreducible femoral neck fracture.Methods The study enrolled 40 patients with irreducible femoral neck fractures treated by three-dimensional interactive reduction of femoral neck/shaft and internal fixation with three cannulated screws from June 2011 to July 2013 (study group).Frontal and lateral X-ray films were taken after operation.Garden index was used to evaluate the fracture reduction quality and Harris hip score was recorded.Meanwhile,a retrospective analysis was performed on 32 patients with irreducible femoral neck fractures treated by open reduction and internal fixation with cannulated screws between January 2008 and December 2010 (control group).Results Patients in study group obtained satisfactory reduction by minimally traumatic closed reduction.According to the Garden index,fracture reduction quality was level 1 in 24 patients and level 2 in 16 patients.Thirty-two patients were followed up for 12-28 months (mean,21 months),which showed fracture healing.At the final follow-up,Harris hip score was 87 points (range,61-100 points) and 4 patients had femoral head avascular necrosis.By contrast,6 patients in control group showed fracture nonunion.At the final follow-up,Harris hip score was 60 points (range,20-100 points) and 8 patients had femoral head avascular necrosis.Conclusion Three-dimensional interactive reduction of femoral neck and shaft provides good hip function recovery and decreased incidence of femoral head avascular necrosis and fracture disunion compared with the open reduction and internal fixation.

OBJECTIVE: To observe the effect of pharyngoplasty on olfactory and taste function in treating obstructive sleep apnea hypopnea syndrome (OSAHS). METHOD: Thirty-nine patients accepted pharyngoplasty for treating OSAHS from April 2005 to December 2005 who complained of olfactory and/or taste disturbances were analyzed in this study. RESULT: Four cases complained of taste disturbances , among them, one case complained of disturbance. The 1st case complained of hyposmia, complete taste loss of sour and salty and partial taste loss of sweet. The 2nd case complained of partial taste loss of sour, sweet, salty and bitter. The 3rd case complained of partial taste loss of sour. The 4th case complained of phantogeusia who had sour and bitter sensation in phlegm. CONCLUSION The olfactory and/or taste disturbances may be complications of pharyngoplasty. Surgeons should be careful during the operation to avoid the damage of olfactory and taste function.
Adult ; Humans ; Male ; Middle Aged ; Olfaction Disorders ; etiology ; Reconstructive Surgical Procedures ; adverse effects ; Sleep Apnea, Obstructive ; surgery ; Taste Disorders ; etiology

OBJECTIVETo explore the methods and results of surgical management for refractory dysphagia and aspiration.

METHODSThe clinical data of 24 refractory dysphagia and aspiration patients who accepted surgical management were retrospectively analysed.

RESULTSTwenty-four refractory dysphagia and aspiration patients accepted 26 operations between 2001 and 2014. Of the 26 operations, 17 were cricopharyngeal myectomy (CPM), 6 were scarectomy, 3 were laryngeal-tracheal separation. No severe complications occurred. Assessments of dysphagia were completed in 18 operations before and after operation. Aspiration scores of videofluoroscopic swallowing study (VFSS) were 4.50 [4.00;7.00] vs 2.00 [1.00; 3.25], P = 0.000; swallow dysfunction scroes of VFSS were 5.00 [4.00; 12.00] vs 1.00 [1.50; 10.00], P = 0.001; aspiration scores of fibroptic endoscopic evaluation of swallowing (FEES) were 4.00 [5.00; 7.00] vs 2.00 [1.75; 3.00], P = 0.000. But the surgical results for post radiotherapy dysphagia were not successful (n = 5): aspiration scores of VFSS were 7.00 [6.50; 8.00] vs 6.00 [2.00; 7.50], P = 0.109;swallow dysfunction scroes of VFSS were 12.00 [10.50; 12.00] vs 12.00 [7.50; 12.00], P = 0.180;aspiration scores of FEES were 7.00 [6.50; 8.00] vs 6.00 [2.00; 7.50], P = 0.109.

CONCLUSIONSurgical management was effective for refractory dysphagia and aspiration, but the surgical indication selection should be strict.

Deglutition Disorders ; surgery ; Endoscopy ; Fluoroscopy ; Humans ; Larynx ; Larynx, Artificial ; Retrospective Studies ; Trachea

OBJECTIVE: To explore the genetic etiology of Vici syndrome in a Chinese family. METHODS: Whole exome sequencing (WES) technology was used to detect gene variants in a fetus of abnormal ultrasonic structure without abnormalities in routine chromosome karyotype analysis and SNP-array. Sanger sequencing and bioinformatics prediction were performed for the suspected variants of the fetus and parents. RESULTS: The fetus and the elder sister have carried c. 2427delC (p.T809fs) and c.1886A>T (p.E629V) compound heterozygous variants of the EPG5 gene, which were respectively inherited from their mother and father. Neither variant was reported previously. According to ACMG guidelines, the c.2427delC variant was predicted as pathogenic, while the c.1886A>T variant was of uncertain significance. PolyPhen-2 and PROVEAN software indicated that c.1886A>T variant was probably damaging. CONCLUSION The c.2427delC and c.1886A>T variants of the EPG5 gene probably underlie the pathogenesis of the Vici syndrome in this family. Above finding has enriched the variational spectrum of EPG5 gene and provided a basis for genetic counseling and prenatal diagnosis for the family.
Aged ; Agenesis of Corpus Callosum ; Autophagy-Related Proteins ; Cataract ; Female ; Humans ; Mutation ; Pregnancy ; Vesicular Transport Proteins/genetics* ; Whole Exome Sequencing

OBJECTIVE: To explore the genetic etiology for a fetus with hydrocephalus and intraventricular hemorrhage. METHODS: Trio whole exome sequencing was carried out. Candidate variants were verified by Sanger sequencing of the fetus and its parents. RESULTS: The fetus was found to harbor c.818G>A (p.W273X) and c.833T>C (p.L278P) compound heterozygous variants of the PROC gene, which were respectively inherited from its mother and father. Based on the guidelines of the American College of Medical Genetics and Genomics (ACMG), both variants were predicted to be likely pathogenic (PVS1_Strong+PM2_Supporting+PP4; PM2_Supporting+PM3+PP1+PP3+PP4). CONCLUSION The fetus was diagnosed with Protein C deficiency due to the c.818G>A (p.W273X) and c.833T>C (p.L278P) compound heterozygous variants of the PROC gene. Above finding has enriched the spectrum of PROC gene variants and enabled genetic counseling and prenatal diagnosis for the family.
Female ; Pregnancy ; Humans ; Protein C Deficiency ; Fetus ; Genetic Counseling ; Genomics ; Hydrocephalus/genetics* ; Mutation

RNA therapeutics inhibit the expression of specific proteins/RNAs by targeting complementary sequences of corresponding genes, or synthesize proteins encoded by the desired genes to treat genetic diseases. RNA-based therapeutics are categorized as oligonucleotide drugs (antisense oligonucleotides, small interfering RNA, RNA aptamers), and mRNA drugs. The antisense oligonucleotides and small interfering RNA for treatment of genetic diseases have been approved by the FDA in the United State, while RNA aptamers and mRNA drugs are still in clinical trials. Chemical modifications are applied to RNA drugs, such as pseudouridine modification of mRNA, to reduce immunogenicity and improve the efficacy. The secure and effective delivery systems like lipid-based nanoparticles, extracellular vesicles, and virus-like particles are under development to address stability, specificity, and safety issues of RNA drugs. This article provides an overview of the specific molecular mechanisms of 11 RNA drugs currently used for treating genetic diseases, and discusses the research progress of chemical modifications and delivery systems of RNA drugs.

RNA therapeutics inhibit the expression of specific proteins/RNAs by targeting complementary sequences of corresponding genes or encode proteins for the synthesis desired genes to treat genetic diseases. RNA-based therapeutics are categorized as oligonucleotide drugs (antisense oligonucleotides, small interfering RNA, RNA aptamers), and mRNA drugs. The antisense oligonucleotides and small interfering RNA for treatment of genetic diseases have been approved by the FDA in the United States, while RNA aptamers and mRNA drugs are still in clinical trials. Chemical modifications can be applied to RNA drugs, such as pseudouridine modification of mRNA, to reduce immunogenicity and improve the efficacy. The secure and effective delivery systems such as lipid-based nanoparticles, extracellular vesicles, and virus-like particles are under development to address stability, specificity, and safety issues of RNA drugs. This article provides an overview of the specific molecular mechanisms of eleven RNA drugs currently used for treating genetic diseases, and discusses the research progress of chemical modifications and delivery systems of RNA drugs.
Aptamers, Nucleotide ; RNA, Small Interfering/therapeutic use* ; RNA, Messenger ; Oligonucleotides, Antisense/therapeutic use*

OBJECTIVETo investigate the clinical value of localization of upper airway obstructive site with the method of combination of nasopharyngeal airway and polysomnography (PSG).

METHODSForty-seven patients diagnosed as obstructive sleep apnea hypopnea syndrome (OSAHS) by PSG were enrolled. Each patient was examined by Somte PSG for the first night, underwent repeated PSG examination with the nasopharyngeal airway in place for the second night and received airway continuous pressure measurements (ApneaGraph) examination for the third night. The standard of treatment success was defined as apnea-hypopnea index (AHI) less than 20/h and a reduction of 50% or more. The patients were divided into success group and failure group. The PSG indices and ApneaGraph data of the two groups were compared. Correlations between AHI with nasopharyngeal airway in place by PSG and lower AHI and constituent ratio of lower obstruction by ApneaGraph were calculated. SPSS 17.0 software was used to analyze the data.

RESULTSForty-two patients completal three-night examination. With the nasopharyngeal airway in place, AHI, the lowest oxyhemoglobin saturation (LSaO2), average oxyhemoglobin saturation, percent of sleep time with oxyhemoglobin saturation <0.90 (SaO2 < 0.90T%) were improved obviously (P < 0.001). Twenty-nine patients (69.0%) achieved treatment success. There were statistical differences (t = 2.670, P = 0.011; Z = -3.252, P = 0.001 and t = -4.556, P < 0.001) of LSaO2 by PSG, lower AHI and constituent ratio of lower obstruction by ApneaGraph compared success group with failure group. The correlations between AHI with nasopharyngeal airway in place by PSG and lower AHI and constituent ratio of lower obstruction by ApneaGraph were 0.616 (P < 0.001) and 0.526 (P < 0.001).

CONCLUSIONThe method of combination of nasopharyngeal airway with PSG is a reliable method of localization of upper airway obstructive site and can be used as a simple means to find out if there's any retroglossal obstruction.

Airway Obstruction ; diagnosis ; Humans ; Nasopharynx ; Polysomnography ; Research ; Sleep ; Sleep Apnea, Obstructive ; diagnosis ; Treatment Outcome