Objective To detect the influence of the perfusion quantity and distribution of bone cement by percutaneous ky-phoplasty(PKP) on the early treatment result of thoracolumbar osteoporotic compression fractures(OVCF) .Methods From May 2011 to May 2013 ,62 cases of osteoporotic fractures of thoracic or lumber vertebra were treated by PKP .CT scans were performed postoperatively to analysis the distribution of the bone cement in the vertebra .According to the bone cement distribution on the transverse plane CT film ,the results were classified into four degrees :excellence ,good ,fair and poor .The cases were followed-up regularly .Preoperative and postoperative visual analogue scale(VAS) ,oswestry dysfunction index(ODI) ,height of the operated ver-tebra ,cobb angle ,the incidences of complications during and after the surgery were compared between groups of different degrees of bone cement distribution and different amount of bone cement injection .Results Among the 62 cases ,the follow-up time ranged from 3 to 36 months[average(10 .5 ± 5 .3)months] .In all of the cases ,there was statistically significant difference between the pre-operative and postoperative VAS scoring(P< 0 .05) .3 months after suergery ,there were no statistically significant influence on the results of VAS scoring ,the ODI scoring ,the height lost of the operated vertebra and the improvement of the Cobb angle(P> 0 .05) . In cases of bone cement injection more than 5 mL ,adjacent vertebra fractures happened in 3 cases 6 months postoperatively and 6 cases 12 months postoperatively .In cases of bone cement injection less than 4 mL ,there were only 2 cases of adjacent vertebra frac-tures happened 12 months posoperatively .The degree of vertebra height lost between the bone cement excellent group and poor group was statistically significant in 6 months and 12 months postoperatively .In cases when the distribution of bone cement was ex-cellent ,the improvement of pain and function was significantly different(P< 0 .05) .Conclusion OVCF is treated by PKP .Through conventional operation ,the ultra-early(within 3 months)efficacy is excellent ,in cases of different amount of bone cement injection and different degree of bone cement distribution .However ,with appropriate amount of bone cement ,the more eventfully and sym-metrically the distribution of the bone cement is ,the better of the early clinical results ,probably .

Objective:To evaluate the efficacy of ultrasound-guided superior laryngeal nerve block(SLNB) combined with intravenous anesthesia for improving pediatric fiberoptic bronchoscopy.Methods:Forty pediatric patients of either sex, aged 3-6 yr, of American Society of Anesthesiologists Physical Status classificationⅠor Ⅱ, with body mass index of 18-24 kg/m 2, undergoing fiberoptic bronchoscopy in Cangzhou Central Hospital in 2022, were divided into 2 groups ( n=20 each) by a random number table method: ultrasound-guided SLNB plus intravenous anesthesia group (group A) and topical anesthesia plus intravenous anesthesia group (group B). After sedation with dexmedetomidine and esketamine, ultrasound-guided bilateral SLNB was performed with 1% lidocaine 0.5 ml (for each side)in group A, and topical anesthesia was performed with 1% lidocaine in nasal and pharyngeal cavities in group B. After completion of the surgery procedure, propofol was continuously infused at 5 mg·kg -1·h -1 until completion of diagnosis and treatment. An increment of propofol 1 mg/kg was intravenously given if severe bucking or body movement occurred during operation. Mean arterial pressure (MAP), heart rate (HR) and SpO 2 were recorded on admission to the operating room (T 0), immediately after sedation (T 1), immediately after bronchoscopy entering the glottis (T 2), 5 min after start of treatment (T 3) and at the end of examination (T 4). The occurrence of intraoperative hypoxemia, HR <60 bpm, and MAP <50 mmHg were recorded, and the additional dose of propofol was recorded. The venous blood samples were collected at T 0 and T 4 to determine plasma cortisol concentrations by chemiluminescence.The surgeon′s satisfaction score was recorded. The complications of SLNB were also recorded within 2 h after operation in group A. Results:Compared with group B, HR was significantly decreased at T 2 and T 3, SpO 2 was increased, the intraoperative additional dosage of propofol and incidence of hypoxemia were decreased, and the surgeon′s satisfaction score was increased, and the concentrations of cortisol were decreased at T 4 in group A ( P<0.05). No HR<60 bpm and MAP<50 mmHg were found in two groups. No SLNB-related complications were observed after operation in group A. Conclusions:Ultrasound-guided SLNB combined with intravenous anesthesia is safer for pediatric fiberoptic bronchoscopy and can improve the analgesic effect and is more helpful in inhibiting intraoperative stress responses when compared with conventional anesthesia.

OBJECTIVETo analyze the clinical features and mutation of MUT gene in a Chinese patient with isolated methylmalonic acidemia.

METHODSThe clinical characteristics and laboratory tests data were collected. Genomic DNA was extracted from peripheral blood leukocytes. The 13 exons and their flanking sequences of the MUT gene were amplified with polymerase chain reaction and subjected to direct DNA sequencing.

RESULTSThe patient has featured failure to thrive, lethargy, seizure, hypotonia, severe ketoacidosis and hyperammonemia. Tandem mass results showed reduction of multiple acylcarnitine. Urine organic acid testing showed pronounced increase in methylmalonate excretion. Homocysteine was normal. The patient showed no response to vitamin B12 treatment. The above results suggested that the patient had isolated methylmalonic acidemia. DNA sequencing analysis confirmed that the patient has carried two MUT gene mutations, c.755dupA and a novel mutation c.944dupT.

CONCLUSIONInherited metabolic disease screening plays an important role in the diagnosis of clinical diseases. However, to confirm the results will need gene mutation analysis.

Amino Acid Metabolism, Inborn Errors ; enzymology ; genetics ; Base Sequence ; Female ; Humans ; Infant, Newborn ; Methylmalonyl-CoA Mutase ; genetics ; Molecular Sequence Data ; Mutation

OBJECTIVETo investigate the clinical phenotype and ACAT1 gene mutation in a family affected with beta-ketothiolase deficiency (BKTD).

METHODSClinical features and laboratory test data were collected. The probands were monozygotic twin brothers. Genomic DNA was isolated from peripheral blood leukocytes obtained from the probands and their family members. Molecular genetic testing of the ACAT1 gene was carried out.

RESULTSThe probands have presented with fever, vomiting and severe ketoacidosis. By arterial blood gas testing, pH was determined to be 7.164, bicarbonate was 4.0 mmol/L, and urine ketone was ++++. Urinary organic acid gas chromatography-mass spectrometry analysis showed excessive excretion of 3-hydroxybutyric acid, 2-methyl-3-hydroxybutyric acid and tiglylglycine. Increased 3-hydroxybutyrylcarnitine (C4-OH), tiglylcarnitine(C5:1) and 3-hydroxyisovalerylcarnitine (C5-OH) levels. The clinical phenotype of proband's parents were both normal, but an elder sister turned out to be an affected patient. Genetic analysis has identified two heterozygous mutations [c.622C>T(p.R208X) and c.653C>T (p.S218F)] in the proband, which were respectively detected in the mother and father. The c.653C>T (p.S218F) mutation was not found among the 100 healthy controls and has not been included in the Human Gene Mutation Database(HGMD).

CONCLUSIONThe primary clinical manifestations of BKTD is ketoacidosis. Urine organic acid and blood acylcarnitine analyses play an important role in the diagnosis of the disease. The compound heterozygous of ACAT1 gene mutations probably underlie the BKTD in our patient.

Acetyl-CoA C-Acetyltransferase ; genetics ; Acetyl-CoA C-Acyltransferase ; deficiency ; genetics ; Amino Acid Metabolism, Inborn Errors ; genetics ; Computational Biology ; Female ; Humans ; Infant ; Male ; Mutation ; Phenotype

OBJECTIVETo explore pathogenic mutation in a family affected with 2-hydroxyglutaric aciduria.

METHODSExons of 3 candidate genes, including L2HGDH, D2HGDH and SLC25A1, were amplified with polymerase chain reaction and subjected to direct sequencing.

RESULTSDNA sequencing has found that the proband and his affected younger brother have both carried a heterozygous mutation c.845G>A (p.R282Q) in the exon 7 of the L2HGDH gene. The same mutation was not detected in the his sister who was healthy. Pedigree analysis has confirmed that the above mutation was inherited from the mother. No mutation was detected in exons and flanking sequences of the D2HGDH and SLC25A1 genes.

CONCLUSIONMutation of the L2HGDH gene probably underlies the 2-hydroxyglutaric aciduria in this family.

Alcohol Oxidoreductases ; genetics ; Base Sequence ; Brain ; diagnostic imaging ; Brain Diseases, Metabolic, Inborn ; diagnostic imaging ; enzymology ; genetics ; Child ; Female ; Humans ; Male ; Molecular Sequence Data ; Mutation ; Pedigree ; Radiography ; Young Adult

ObjectiveTo investigate the condom use of men who have sex with men （MSM） in Shanghai， the information motivation behavioral skills model （IMB） theory was used to introduce psychosocial factors and study the relevant factors of consistent condom use （CCU） in this population. MethodsA cross-sectional study of 547 MSM in four districts of Shanghai was conducted by snowball sampling. The structural equation model based on psychosocial optimization was constructed and validated using the data collected by structured questionnaires. ResultsAmong the 547 respondents， the proportion of CCU in the past six months was 45.5%. Comparing the fitness of the initial model with that of the adjusted model， we found that the fitness of the adjusted model was good. ConclusionThe proportion of CCU among MSM in Shanghai is relatively low； In addition， information and motivation do not directly affect the CCU of this population； Only behavioral skills have a direct effect on CCU. Finally， social psychological measures should be emphasized for this population， and comprehensive and multi-level strategies should be formulated to control the spread of HIV in this population.