OBJECTIVE: To analyze the distribution characteristics of glucose-6-phosphate-dehydrogenase (G6PD) mutations and their enzyme activity in newborns patients with G6PD deficiency in Guilin region. METHODS: From July 2022 to July 2024, umbilical cord blood samples from 4 554 newborns in Guilin were analyzed for G6PD mutations using fluorescence PCR melting curve analysis. Enzyme activity was detected in 4 467 cases using the rate assay. RESULTS: Among 4 467 newborns who underwent G6PD activity testing, 162 newborns (3.63%) were identified as G6PD-deficient, including 142 males (6.04%) and 20 females (0.94%), the prevalence of G6PD deficiency was significantly higher in males than in females (P < 0.001). Genetic analysis of 4 554 newborns detected G6PD mutations in 410 cases (9%), including 171 males (7.13%) and 239 females (11.09%), with a significantly higher mutation detection rate in females than in males (P < 0.001). A total of nine single mutations and four compound heterozygous mutations were identified. The most common mutations were c.1388G>A (33.66%), c.1376G>T (23.66%) and c.95A>G (16.34%). Among newborns who underwent both enzyme activity and genetic mutation testing, males with G6PD mutations had significantly lower enzyme activity than that of females with G6PD mutations(P < 0.001). Specifically, among newborns carrying the mutations c.1388G>A, c.1376G>T, c.95A>G, c.1024C>T or c.871G>A, males consistently exhibited lower enzymatic activity than females with the same mutations (P < 0.001). Furthermore, in male G6PD-deficient newborns, the enzyme activity levels in those carrying c.1388G>A, c.1376G>T, c.95A>G, c.1024C>T, or c.871G>A were lower than those in both the control group and the c.519C>T group (P < 0.05). CONCLUSION This study provides a comprehensive profile of G6PD deficiency incidence and mutation spectrum in the Guilin region. By analyzing enzyme activity and genetic mutation results, this study provides insights into potential intervention strategies and personalized management approaches for the prevention and treatment of neonatal G6PD deficiency in the region.
Humans ; Infant, Newborn ; Glucosephosphate Dehydrogenase Deficiency/epidemiology* ; Glucosephosphate Dehydrogenase/genetics* ; Female ; Male ; Mutation ; China/epidemiology*

Objective: To analyze the prevalence and the risk factors of fungal sepsis in 25 neonatal intensive care units (NICU) among preterm infants in China, and to provide a basis for preventive strategies of fungal sepsis. Methods: This was a second-analysis of the data from the "reduction of infection in neonatal intensive care units using the evidence-based practice for improving quality" study. The current status of fungal sepsis of the 24 731 preterm infants with the gestational age of <34⁺⁰ weeks, who were admitted to 25 participating NICU within 7 days of birth between May 2015 and April 2018 were retrospectively analyzed. These preterm infants were divided into the fungal sepsis group and the without fungal sepsis group according to whether they developed fungal sepsis to analyze the incidences and the microbiology of fungal sepsis. Chi-square test was used to compare the incidences of fungal sepsis in preterm infants with different gestational ages and birth weights and in different NICU. Multivariate Logistic regression analysis was used to study the outcomes of preterm infants with fungal sepsis, which were further compared with those of preterm infants without fungal sepsis. The 144 preterm infants in the fungal sepsis group were matched with 288 preterm infants in the non-fungal sepsis group by propensity score-matched method. Univariate and multivariate Logistic regression analysis were used to analyze the risk factors of fungal sepsis. Results: In all, 166 (0.7%) of the 24 731 preterm infants developed fungal sepsis, with the gestational age of (29.7±2.0) weeks and the birth weight of (1 300±293) g. The incidence of fungal sepsis increased with decreasing gestational age and birth weight (both P<0.001). The preterm infants with gestational age of <32 weeks accounted for 87.3% (145/166). The incidence of fungal sepsis was 1.0% (117/11 438) in very preterm infants and 2.0% (28/1 401) in extremely preterm infants, and was 1.3% (103/8 060) in very low birth weight infants and 1.7% (21/1 211) in extremely low birth weight infants, respectively. There was no fungal sepsis in 3 NICU, and the incidences in the other 22 NICU ranged from 0.7% (10/1 397) to 2.9% (21/724), with significant statistical difference (P<0.001). The pathogens were mainly Candida (150/166, 90.4%), including 59 cases of Candida albicans and 91 cases of non-Candida albicans, of which Candida parapsilosis was the most common (41 cases). Fungal sepsis was independently associated with increased risk of moderate to severe bronchopulmonary dysplasia (BPD) (adjusted OR 1.52, 95%CI 1.04-2.22, P=0.030) and severe retinopathy of prematurity (ROP) (adjusted OR 2.55, 95%CI 1.12-5.80, P=0.025). Previous broad spectrum antibiotics exposure (adjusted OR=2.50, 95%CI 1.50-4.17, P<0.001), prolonged use of central line (adjusted OR=1.05, 95%CI 1.03-1.08, P<0.001) and previous total parenteral nutrition (TPN) duration (adjusted OR=1.04, 95%CI 1.02-1.06, P<0.001) were all independently associated with increasing risk of fungal sepsis. Conclusions: Candida albicans and Candida parapsilosis are the main pathogens of fungal sepsis among preterm infants in Chinese NICU. Preterm infants with fungal sepsis are at increased risk of moderate to severe BPD and severe ROP. Previous broad spectrum antibiotics exposure, prolonged use of central line and prolonged duration of TPN will increase the risk of fungal sepsis. Ongoing initiatives are needed to reduce fungal sepsis based on these risk factors.
Infant ; Infant, Newborn ; Humans ; Birth Weight ; Intensive Care Units, Neonatal ; Retrospective Studies ; Tertiary Care Centers ; Infant, Extremely Low Birth Weight ; Gestational Age ; Infant, Extremely Premature ; Sepsis/epidemiology* ; Retinopathy of Prematurity/epidemiology* ; Bronchopulmonary Dysplasia/epidemiology*

Background: Technical aspects of the correct placement of medial support locking screws in the locking plate for proximal humerus fractures remain incompletely understood. This study was to evaluate the clinical relationship between the number of medial support screws and the maintenance of fracture reduction after locked plating of proximal humerus fractures. Methods: We retrospectively evaluated 181 patients who had been surgically treated for proximal humeral fractures (PHFs) with a locking plate between September 2007 and June 2013. All cases were then subdivided into one of four groups as follows: 75 patients in the medial cortical support (MCS) group, 26 patients in the medial multiscrew support (MMSS) group, 29 patients in the medial single screw support (MSSS) group, and 51 patients in the no medial support (NMS) group. Clinical and radiographic evaluations included the Constant-Murley score (CM), visual analogue scale (VAS), complications, and revision surgeries. The neck-shaft angle (NSA) was measured in a true anteroposterior radiograph immediately postoperation and at final follow-up. One-way analysis of variance or Kruskal-Wallis test was used for statistical analysis of measurement data, and Chi-square test or Fisher's exact test was used for categorical data. Results: The mean postoperative NSAs were 133.46° ± 6.01°, 132.39° ± 7.77°, 135.17° ± 10.15°, and 132.41° ± 7.16° in the MCS, MMSS, MSSS, and NMS groups, respectively, and no significant differences were found (F = 1.02, P = 0.387). In the final follow-up, the NSAs were 132.79° ± 6.02°, 130.19° ± 9.25°, 131.28° ± 12.85°, and 127.35° ± 8.50° in the MCS, MMSS, MSSS, and NMS groups, respectively (F = 4.40, P = 0.008). There were marked differences in the NSA at the final follow-up between the MCS and NMS groups (P = 0.004). The median (interquartile range [IQR]) NSA losses were 0.0° (0.0-1.0)°, 1.3° (0.0-3.1)°, 1.5° (1.0-5.2)°, and 4.0° (1.2-7.1)° in the MCS, MMSS, MSSS, and NMS groups, respectively (H = 60.66, P < 0.001). There were marked differences in NSA loss between the MCS and the other three groups (MCS vs. MMSS, Z = 3.16, P = 0.002; MCS vs. MSSS, Z = 4.78, P < 0.001; and MCS vs. NMS, Z = 7.34, P < 0.001). There was also significantly less NSA loss observed in the MMSS group compared to the NMS group (Z = -3.16, P = 0.002). However, there were no significant differences between the MMSS and MSSS groups (Z = -1.65, P = 0.225) or the MSSS and NMS groups (Z = -1.21, P = 0.099). The average CM scores were 81.35 ± 9.79, 78.04 ± 8.97, 72.76 ± 10.98, and 67.33 ± 12.31 points in the MCS, MMSS, MSSS, and NMS groups, respectively (F = 18.68, P < 0.001). The rates of excellent and good CM scores were 86.67%, 80.77%, 65.52%, and 43.14% in the MCS, MMSS, MSSS, and NMS groups, respectively (χ = 29.25, P < 0.001). The median (IQR) VAS scores were 1 (0-2), 1 (0-2), 2 (1-3), and 3 (1-5) points in the MCS, MMSS, MSSS, and NMS groups, respectively (H = 27.80, P < 0.001). Functional recovery was markedly better and VAS values were lower in the MCS and MMSS groups (for CM scores: MCS vs. MSSS, P < 0.001; MCS vs. NMS, P < 0.001; MMSS vs. MSSS, P = 0.031; and MMSS vs. NMS, P < 0.001 and for VAS values: MCS vs. MSSS, Z = 3.31, P = 0.001; MCS vs. NMS, Z = 4.64, P < 0.001; MMSS vs. MSSS, Z = -2.09, P = 0.037; and MMSS vs. NMS, Z = -3.16, P = 0.003). Conclusions Medial support screws might help enhance mechanical stability and maintain fracture reduction when used to treat PHFs with medial metaphyseal comminution or malreduction.
Aged ; Bone Plates ; Bone Screws ; Female ; Fracture Fixation, Internal ; methods ; Humans ; Humerus ; Male ; Middle Aged ; Retrospective Studies ; Shoulder Fractures ; surgery ; Treatment Outcome

OBJECTIVETumor necrosis factor-related apoptosis-inducing ligand (TRAIL) resistance greatly limits the clinical therapeutic efficacy of TRAIL. Elucidating the molecular mechanism underlying TRAIL resistance will be fundamental to resolving this problem.

METHODSNuclear and cytoplasmic protein extraction and immuno？uorescence (IF) assay were used to detect changes in heterogeneous nuclear ribonucleoprotein K (hnRNPK) localization in H1299 cells. The evaluation of cell apoptosis in cells transfected with GFP-hnRNPK, GFP-hnRNPK S284/353A, or GFP-hnRNPK S284/353D mutant was performed using cleaved caspase-3 antibody. The gene expression of XIAP was tested by quantitative RT-PCR.

RESULTSPreviously, we reported that hnRNPK antagonized TRAIL-induced apoptosis through inhibition of PKC-mediated GSK3β phosphorylation. In this study, we further demonstrate that TRAIL treatment induces cytoplasmic accumulation of hnRNPK in H1299 cells. The hnRNPK localized in the cytoplasm has a higher capacity to antagonize TRAIL-induced apoptosis. Both ERK1/2 signaling inhibitor U0126 and ERK-phosphoacceptor-site mutant (GFP-hnRNPK S284/353A) diminish cytoplasmic accumulation of hnRNPK induced by TRAIL. Moreover, we show that XIAP is involved in hnRNPK-mediated TRAIL resistance in H1299 cells.

CONCLUSIONTaken together, these results give new insights into the understanding of the molecular mechanism associated with TRAIL resistance in lung adenocarcinoma.

Apoptosis ; physiology ; Cell Line, Tumor ; Gene Expression Regulation ; physiology ; Heterogeneous-Nuclear Ribonucleoprotein K ; genetics ; metabolism ; Humans ; Mitogen-Activated Protein Kinase 1 ; genetics ; metabolism ; Mitogen-Activated Protein Kinase 3 ; genetics ; metabolism ; TNF-Related Apoptosis-Inducing Ligand ; genetics ; metabolism ; Up-Regulation ; physiology ; X-Linked Inhibitor of Apoptosis Protein ; genetics ; metabolism

Objective To design a novel double-leaf proximal humeral locking plate for fixing greater and lesser tuberosities in complex proximal humeral fractures,and evaluate its fixing stability by biomechanical tests.Methods Twelve fresh-frozen humerus specimens with intact rotator cuff were randomly divided into two groups (Group A and Group B) to establish the same greater and lesser tuberosities fracture models.Specimens in Group A were fixed with the double-leaf proximal humeral locking plate,while specimens in Group B were fixed with the proximal humeral internal locking system (PHILOS) and tension band suture,and a 3.5-mm cannulated screw was added to stabilize the lesser tuberosity.The tensile test on subscapularis,infraspinatus and teres,supraspi natus as well as the load-to-failure test on greater and lesser tuberosities were performed on specimens in two groups.Results For subscapularis tensile tests,displacements under 150 N tensile stretch and after fatigue test in Group A were both significantly smaller than those in Group B (P ＜ 0.05).For infraspinatus and teres tensile tests,there were no statistical differences between Group A and B in displacements under 150 N tensile stretch and after fatigue test (P ＞ 0.05).For supraspinatus tensile tests,there were no statistical differences between Group A and B in displacements under 90 N tensile stretch and after fatigue test (P ＞ 0.05).For load-to-failure tests on lesser tuberosity,the failure load in Group A was significantly greater than that in Group B (P ＜ 0.05),and the failure displacement in Group A was significantly smaller than that in Group B (P ＜ 0.05).For load-to-failure tests on greater tuberosity,there were no statistical differences between Group A and B in both the failure load and failure displacement (P ＞ 0.05).Conclusions Compared with the ordinary tension band suture plus cannulated screw for fixing lesser tuberosity,the novel double-leaf proximal humeral locking plate shows more obvious biomechanical stability,with the advantage of simultaneously fixing greater and lesser tuberosities.The research findings provide a new choice for the clinical treatment of complex proximal humeral fractures.

Objective To design a novel double-leaf proximal humeral locking plate for fixing greater and lesser tuberosities in complex proximal humeral fractures, and evaluate its fixing stability by biomechanical tests. Methods Twelve fresh-frozen humerus specimens with intact rotator cuff were randomly divided into two groups (Group A and Group B) to establish the same greater and lesser tuberosities fracture models. Specimens in Group A were fixed with the double-leaf proximal humeral locking plate, while specimens in Group B were fixed with the proximal humeral internal locking system (PHILOS) and tension band suture, and a 3.5-mm cannulated screw was added to stabilize the lesser tuberosity. The tensile test on subscapularis, infraspinatus and teres, supraspinatus as well as the load-to-failure test on greater and lesser tuberosities were performed on specimens in two groups. Results For subscapularis tensile tests, displacements under 150 N tensile stretch and after fatigue test in Group A were both significantly smaller than those in Group B (P<0.05). For infraspinatus and teres tensile tests, there were no statistical differences between Group A and B in displacements under 150 N tensile stretch and after fatigue test (P>0.05). For supraspinatus tensile tests, there were no statistical differences between Group A and B in displacements under 90 N tensile stretch and after fatigue test (P>0.05). For load-to-failure tests on lesser tuberosity, the failure load in Group A was significantly greater than that in Group B (P<0.05), and the failure displacement in Group A was significantly smaller than that in Group B (P<0.05). For load-to-failure tests on greater tuberosity, there were no statistical differences between Group A and B in both the failure load and failure displacement (P>0.05). Conclusions Compared with the ordinary tension band suture plus cannulated screw for fixing lesser tuberosity, the novel double-leaf proximal humeral locking plate shows more obvious biomechanical stability, with the advantage of simultaneously fixing greater and lesser tuberosities. The research findings provide a new choice for the clinical treatment of complex proximal humeral fractures.

Objective To carry out a molecular screening of Chinese common deafness gene mutations in Chinese pregnant women group,so as to expatiate on the content,provide molecular epidemiological data,reduce the birth rate and provide a theoretical basis to the deaf children. Methods The molecular detection was done to the pregnant women underwent normal antenatal care in our hospital,using gene chips to screen the four com?mon deaf genes(GJB2,GJB3,SLC26A4 and mitochondrial 12S rRNA)in China;then,the newborn infants carrying mutations were treated with the hearing screening,using the methods of Otoacoustic Emissions(OAE)and Brainstem Auditory Evoked Potentials(BAEP),and the husbands of mutation carrying pregnant women were adopted molecular testing of the deaf susceptibility genes in order to investigate the correlation of the rate of pregnant women carrying the mutant genes and newborn infants deafness. Results Totally 2 067 cases of pregnant women were accepted to do the molecular screening,there were 110 cases of deafness mutations detected(5.320%),in which GJB2 gene(67 cases),GJB3 gene(6 cases), SLC26A4gene(33 cases),mitochondrial 12SrRNAgene(4 cases)mutation detection rates were 3.240%,0.290%,1.600%and 0.190%,respec?tively;especially:GJB2gene 235 del C,GJB2gene 299 del AT double mutant 1 case;GJB2gene 299 del AT,GJB3gene 538 C>T double mutant 1 case;GJB2 gene 235 del C,SLC26A4 gene IVS7?2 A>G double mutant 1 case. About 108 cases children newborn accepted to do the hearing screening,in which 3 cases had problems with the left ear,3 cases with the right ear,and 4 cases with the double ears. Conclusion The use of ge?netic deafness gene chip to do the molecular diagnostics in pregnant women can be convenient,fast and efficient for prenatal diagnosis of deafness, which provides a theoretical basis and good method for reducing the birth rate of deaf children and should be popularized more widely.

To analyze the impact of hepatitis B virus (HBV) infection on liver function of patients after hematopoietic stem cell transplantation (HSCT), the transplantation outcome of 48 patients infected with HBV prior to transplantation among 185 patients received HSCT was investigated retrospectively. The results showed that during a follow-up for 6 months after HSCT, the alanine aminotransferase (ALT) peak average values of the patients with HBsAg(+), HBsAb(+) and control groups were (281.6 ± 414.6), (95.4 ± 79.9) and (65.1 ± 44.2) U/L, respectively. The incidences of abnormal liver function of the patients with HBsAg(+), HBsAb(+) and control groups were 61.54%, 40.00% and 30.23% respectively. There were no significant differences between any two groups (P > 0.05). The lethality of those patients at late period after transplantation was not related to HBV infection. The hepatocirrhosis and hepatocarcinoma caused by HBV infection have not become major problems in long-term survivors. It is concluded that in HBsAg(+) patients received HSCT, the damage of liver function is more severe than control group, possibly increasing the development of abnormal liver function. The measures against the liver function damage should be taken. The prophylactic administration of ganciclovir for virus may be effective to prevent the activation of HBV.
Adolescent ; Adult ; Child ; Female ; Hematopoietic Stem Cell Transplantation ; adverse effects ; Hepatic Veno-Occlusive Disease ; etiology ; prevention & control ; Hepatitis B ; physiopathology ; Hepatitis B virus ; Humans ; Liver ; physiopathology ; virology ; Liver Function Tests ; Male ; Middle Aged ; Retrospective Studies ; Young Adult

BACKGROUNDMore and more percutaneous coronary intervention were done from radial artery approach. But the great limitation of radial artery approach and main failure cause of transradial coronary intervention is smaller size and more variations of a radial artery approach. The aim of the study is to explore the features and variations of a radial artery approach in southern Chinese populations and their clinical significance in percutaneous coronary intervention.

METHODSA total of 1400 patients who underwent scheduled first time transradial coronary angiography between July 2007 and September 2010 were enrolled. Radial arteriography was performed in all patients to detect the anatomical variations of this vessel. All patients' radial and ulnar artery inner diameters were measured using a computer assisted quantification method. A detailed patient history was recorded. Multivariate Logistic regression analysis was performed to evaluate the predictive value of variables (including age, gender, ethnicity, height, weight, body mass index, smoking, diabetes, hypertension and dyslipidemia) in arterial tortuosities and variations of this vessel.

RESULTSIn southern Chinese populations, there were no significant differences in the diameters of the forearm arteries: the mean radial artery inner diameter was (3.04 ± 0.43) mm in ethnic Han Chinese and (3.05 ± 0.42) mm in ethnic Zhuang Chinese, P > 0.05), the mean ulnar artery inner diameter was (3.03 ± 0.38) mm in Han Chinese and (3.05 ± 0.36) mm in Zhuang Chinese, P > 0.05). It was estimated that the inner diameter of the radial artery was not smaller than a 6F Cordis sheath in 86.1% of male patients and in 57.0% of female patients, and not smaller than a 7F Cordis sheath in 59.3% of male patients and 24.9% of female patients. The factors found to positively affect the size of the radial artery were sex (bj = 0.309, P < 0.01), weight (bj = 0.103, P < 0.01), and diabetes mellitus (bj = -0.088, P < 0.01) was found to negatively affect radial artery size. Arterial tortuosities occurred in 12.1% of patients and arterial variations in 4.1%. The incidence of tortuosities and variations included radial artery tortuosity (3.6%), high origin of radial artery (1.7%), radial artery loop (0.6%), double radial artery (0.1%), brachial artery tortuosity (0.4%), double brachial artery (0.1%), subclavian artery tortuosity (5.4%), small subclavian artery (0.4%), right retro-esophageal subclavian artery (0.6%), brachiocephalic trunk tortuosity (2.8%), small brachiocephalic artery (0.1%), and brachiocephalic artery anomaly (0.4%). For people in Guangxi province, tortuosities of the subclavian artery and radial artery are the most common among the vascular tortuosities of the radial artery approach. The overall rate of transradial procedural success was 96.1%. Procedural failure was more common in patients with anomalous radial artery approach than in patients with normal radial artery approach (22.8% vs. 1.8%, P = 0.000). According to multivariate Logistic regression analysis, age (OR = 2.695, 95%CI 2.232 - 3.253, P = 0.000), female gender (OR = 5.127, 95%CI 3.000 - 8.762, P = 0.000), height (OR = 0.612, 95%CI 0.465 - 0.807, P = 0.000), body mass index (OR = 2.377, 95%CI 1.834 - 3.082, P = 0.000), hypertension (OR = 1.668, 95%CI 1.132 - 2.458, P = 0.010), hyperlipidemia (OR = 1.273, 95%CI 1.425 - 2.049, P = 0.034) and smoking (OR = 5.750, 95%CI 3.636 - 9.093, P = 0.000), were independently associated with arterial tortuosities of the radial artery approach. Female gender was independently associated with arterial variations of the radial artery approach (OR = 3.613, 95%CI 3.208 - 7.826, P = 0.000).

CONCLUSIONSThe diameters of the radial and ulnar arteries between the Han people and the Zhuang people in southern Chinese populations are similar. In a transradial operation, the most southern Chinese populations, the use of a 6F sheath and guiding catheter is safe, and using a 7F sheath and guiding catheter is feasible in some selected patients. Radial arterial tortuosities and variations in southern Chinese populations are relatively common and are a significant cause of the failure of transradial coronary procedure. Old age, female gender, short stature, high body mass index, hypertension, hyperlipidemia and smoking, were independently associated with an increased risk of arterial tortuosity. In addition, female gender was an independent predictor of arterial variations.

Aged ; Angioplasty, Balloon, Coronary ; methods ; Asian Continental Ancestry Group ; Coronary Disease ; therapy ; Female ; Humans ; Male ; Middle Aged ; Radial Artery ; surgery

Objective To compare the stability of greater tuberosity fractures of humerus treated by three different fixation techniques (screws, tension band, locking plate, respectively) through biomechanical testing, so as to provide the biomechanics basis for choosing a better fixation in the clinical treatment for greater tuberosity fractures of humerus. Methods Standardized fracture models of the greater tuberosity from 18 fresh-frozen proximal humeri with intact rotator cuffs were created. The specimens were randomly assigned to 3 groups and treated by screws, tension band and locking plates, respectively. An increasing force was applied to the supraspinatus tendon. The force displacement curve and two parameters: LtYP(Load to 5 mm yield point) and Ltf(load to failure) were recorded. Results LtYP from the screw group, tension band group and locking plate group was (377±86), (499±90), (793±52) N, respectively, with significant differences among the three groups (P<0.01). Significant differences were also found between the groups as locking plate group (only 3 cases in locking plate group reached to 5 mm displacement before LtF in this study ) and screw group, locking plate group and tension band group, tension band group and screw group (P<0.01). LtF of screw group, tension band group and locking plate group was (744±112), (908±93), (979±143) N, respectively, showing significant differences among them, and which were also found between locking plate group and screw group, tension band group and screw group (P<0.01), but no significant differences were found between locking plate group and tension band group (P>0.05). Conclusions Locking plates show more obvious biomechanical stability than screws and tension band, which provides a new and better choice for treatment of isolated greater tuberosity fractures of humerus.