A case of mental retardation autosomal dominant 35 with neonatal onset / 中华围产医学杂志

This article reported a male patient with neonatal onset mental retardation autosomal dominant 35 (MRD35). The boy presented with repeated convulsions, hypotonia, enlarged head circumference, congenital muscular torticollis and feeding difficulties in the neonatal period. Dynamic electroencephalogram showed paroxysmal epileptic discharges in the left central-temporal region. High-throughput whole-exome sequencing revealed a heterozygous mutation of c.139G>A (p.Glu47Lys) in the PPP2R5D gene, which was a de novo mutation not inherited from his parents. The child had significant developmental delay at the age of one year. MRD35 lacks typical clinical manifestations and requires whole-exome sequencing for definitive diagnosis. Currently, there is no specific treatment for MRD35 and symptomatic treatments, including rehabilitation training, language training and seizure control, are mostly adopted.

A case of neonatal-onset autoinflammation with infantile enterocolitis caused by a de novoNLRC4 gene variation / 中华围产医学杂志

This article reported a case of neonatal-onset autoinflammation with infantile enterocolitis (AIFEC) caused by NLRC4 gene mutation. The boy developed the disease in the neonatal period, presenting with recurrent fever, rash, hepatosplenomegaly and enterocolitis. Laboratory tests showed some indicators including ferritin and C-reactive protein were elevated. His condition was complicated by macrophage activation syndrome and anti-infective treatment was ineffective. High-throughput whole exome sequencing revealed a de novo heterozygous mutation of c.1021G>C (p.Val341Leu) in the NLRC4 gene and AIFEC was confirmed. AIFEC is a rare disease with no effective treatment at present, which can be developed in the neonatal period and diagnosed by whole exome sequencing.

Clinical analysis of 56 cases of neonatal osteomyelitis / 中国新生儿科杂志

Objective:To study the clinical characteristics, pathogens, treatments and prognosis of neonatal osteomyelitis.Methods:From May 2015 to October 2019, infants admitted to our hospital and diagnosed with neonatal osteomyelitis were retrospectively studied. Clinical characteristics, laboratory examinations, treatments and prognosis were analyzed.Results:A total of 56 cases with neonatal osteomyelitis were included, including 39 males and 17 females. The time of onset was 1~28 d after birth, with 66.1% during 14~28 d. 62.5% (35/56) patients were hospitalized because of limited limb movement and crying during passive motion. Femur was involved in 57.1% (32/56) patients and 76.8% (43/56) had two or more bones involvement. All patients had local symptoms, including local swelling (94.6%), local tenderness (94.6%) and increased skin temperature (83.9%). 40 patients (71.4%) had increased white blood cell count (WBC) and 28 (50.0%) showed increased C-reactive protein (CRP). Staphylococcus aureus was the most common pathogen in blood cultures (25.0%) and in local pus cultures (40.9%). Klebsiella pneumoniae was the most common pathogen in bone marrow cultures (33.3%).11 patients (19.6%) were treated conservatively using antibiotics and 45 patients (80.4%) required surgical treatments. 48 patients were followed up. 45 had good prognosis, 1 patient had malposition, 1 patient had disparity of the legs(the affected side was longer) and 1 patient had genu valgum.Conclusions:The early manifestations of neonatal osteomyelitis are nonspecific. For neonates with suspected osteomyelitis, early laboratory and imaging examinations are recommended. Early diagnosis and timely treatment may help reduce sequelae.

Advance of early supplementation of vitamin AD improve the prognosis of preterm infants / 国际儿科学杂志

Vitamin AD is an essential nutrient in human, which can maintain the normal function of vision, immune system, respiratory tract, gastrointestinal epithelium and nervous system.Preterm infants are prone to vitamin AD deficiency due to low prenatal storage, low food intake, high energy metabolism, et al.Studies have shown that early supplementation of vitamin AD can promote the growth and development of preterm infants.This paper summarizes recent advances of vitamin AD supplementation in the improvement of retinopathy of prematurity, bronchopulmonary dysplasia, necrotizing enterocolitis, brain injury and metabolic bone diseases of prematurity.The result has showed that vitamin AD supplementation within 1 week after birth could improve the occurrence of complications in preterm infants, which could provide new ideas and methods for reducing the major complications of preterm infants.

Clinical characteristics and pathogenic distribution of late-onset sepsis among premature infants with gestational age less than 34 weeks in Henan Province / 中华临床感染病杂志

Objective:To analyse the pathogenic bacteria distribution and clinical characteristics of late-onset sepsis (LOS) among premature infants with gestational age less than 34 weeks in Henan Province.Methods:The clinical data of 6 590 premature infants admitted to 17 medical institutions in Henan Province from January 2019 to December 2020 were retrospectively analyzed. The gestational age of infants was less than 34 weeks and was admitted to the neonatal ward within 7 days after birth. SPSS 19.0 statistical software was used for data analysis.Results:Among 6 590 premature infants LOS developed in 751 cases (11.40%), of whom the diagnosis was confirmed in 276 cases (36.75%) and 475 cases (63.25%) were diagnosed clinically. The fatality rate related to LOS was 13.58%. There were significant differences in the incidence of LOS and infection-related mortality among infants with different gestational ages and body weights ( χ2=388.894 and 13.572, χ2=472.282 and 9.257, P<0.05 or <0.01). Among 276 children with confirmed LOS, 286 strains of pathogenic bacteria were isolated. Gram-negative bacteria were most prevalent (178 strains), accounting for 62.24% of all infections, followed by fungi (58 strains, 20.28%). Klebsiella pneumoniae was most frequently detected Gram-negative bacteria (117 strains, 40.91%), among which 32.48% (38/117) was carbapenem-resistant Klebsiella pneumoniae. The proportion of diagnosed sepsis, the proportion of catheterization, and the infection-related mortality of infants with LOS in tertiary hospitals were all higher than those in secondary hospitals ( χ2=6.212, 5.313 and 4.435, all P<0.05). The proportion of exclusive breastfeeding in secondary hospitals was lower than that in tertiary hospitals ( χ2=19.216, P<0.05). The time of antibacterial drug use before infection in specialized hospitals was longer than that in general hospitals ( χ2=3.276, P<0.05). Conclusion:The incidence of LOS among preterm infants in Henan Province is high, which was mainly caused by Gram-negative bacteria. The clinical characteristics of LOS caused by different pathogens and in different health institutions are different, the prevention and control strategy should be developed accordingly to reduce the incidence LOS of preterm premature infants.

A study on the relationship between mean platelet volume and severe retinopathy of preterm infants / 中国新生儿科杂志

Objective To study the relationship between mean platelet volume (MPV) and severe retinopathy of prematurity (ROP) in preterm infants.Method From January 2012 to June 2017,a retrospective case-control study was performed on preterm infants with gestational age (GA)＜32 weeks admitted to our hospital.The preterm infants with severe ROP were assigned into severe ROP group,and preterm infants with the same GA and birth weight but without ROP were assigned into the control group.The MPV were compared between the two groups,and Logistic regression method was used to analyze the risk factors for severe ROP.Result A total of 82 preterm infants with severe ROP were enrolled,including 51 males and 31 females with GA of 24～31 weeks.The control group also included 82 patients.The mechanical ventilation (MV) duration and continuous positive pressure ventilation duration of preterm infants in severe ROP group were significantly longer than the control group [7.2 (3.9,10.8) d vs.5.6 (3.5,8.9) d,7.8 (4.7,11.6) d vs.5.3 (2.3,9.2) d];the incidences of sepsis and intracranial hemorrhage were significantly higher than the control group [32.9％ (27/82) vs.17.1％ (14/82),31.7％(26/82) vs.17.1％ (14/82)],and the breast feeding rate was significantly lower than the control group[15.8％(13/82)vs.52.4％ (43/82)] (P＜0.05).The MPV of the preterm infants in the severe ROP group was significantly higher than the control group at 36-and 40-week of corrected GA [(10.6± 1.8) fl vs.(10.1± 1.4) fl,(10.8± 1.8) fl vs.(10.2± 1.5) fl] (P＜0.05).Multivariate Logistic regression analysis showed that high birth weight (OR=0.998,95％CI 0.996～ 0.999) protective factor for severe ROP,increased MPV (OR=1.084,95％CI 1.011 ～ 1.163) was risk factor for severe ROP.The ROC curve analysis indicated that threshold values of MPV at corrected GA of 32-week,36-week,and 40-week were 9.9 fl,10.9 fl,and 10.8 fl,respectively;and the sensitivities and specificities were 93.2％ and 68.0％,84.1％,and 92.3％,88.6％ and 89.5％,respectively.Conclusion MPV may be associated with the development of severe ROP in preterm infants.

The efficacy and safety of oral propranolol in the treatment of retinopathy of prematurity / 中国新生儿科杂志

Objective To study the changes of vascular endothelial growth factor ( VEGF) and sE－Selectin in serum before and after oral propranolol therapy for retinopathy of prematurity (ROP), and to study the safety and efficacy of oral administration of propranolol in the treatment of ROP.Method Preterm infants whose gestational age ＜32 weeks and ROP Ⅱstage without plus disease were selected as the objects of our study.The infants were randomly enrolled into treatment and placebo groups in a 1∶1 allocation.The propranolol dosage was 0.25 mg/(kg· d), twice daily orally.The duration of treatment was to complete retinal vessel development or discharge , the longest oral propranolol treatment did not exceed 30 days. Result The incidence of severe ROP in the treatment group was significantly reduced (17.1%vs.37.2%, P＝0.033), and the number requiring laser treatment of the eyes was significantly reduced (3.7%vs.12.8%, P＝0.048).After 10 days of treatment, the serum sE－Selectin decreased significantly in the treatment group, it was significantly lower than that in the placebo group ( P＜0.001).There were no mortalities in the treatment group and the placebo group.The heart rate of the treatment group was lower than that of the placebo group, however, there was no significant difference between the two groups (P＞0.05).There were no significant differences in mean arterial pressure , body weight gain, and urine volume between the two groups (P＞0.05).The serum potassium level in the treatment group was significantly higher than that in the placebo group after the treatment of 20 days and 30 days, [(4.2 ±0.9) mmol/L vs.(3.8 ± 0.4) mmol/L, ( 4.4 ±0.9 ) mmol/L vs.( 3.9 ±0.4 ) mmol/L ], the differences were statistically significant (P＜0.05).However, all the children had normal serum potassium.During treatment, there was no significant differences between the two groups for the incidence of oxygen inhalation and the number of apnea in all children (P＞0.05).Conclusion Propranolol may have a certain therapeutic effect on the progression of ROP.The oral administration was relatively safe and without significant adverse effects.

A study on the relationship between the Wnt receptor signaling pathway and severe retinopathy of prematurity / 中国新生儿科杂志

Objective To study the relationship of Wnt receptor signaling pathway and severe retinopathy of prematurity (ROP).Method From January 2011 to June 2015,preterm infants with severe ROP admitted to the NICU of our hospital were enrolled prospectively.Preterm infants with similar gestational age,gender,and age (in days) admitted to our hospital during the same period were selected as the control group.FZD4,LRP5,and ND gene mutations in Wnt receptor signaling pathway were examined.Result A total of 61 Chinese preterm infants were screened for these three candidate genes of Wnt receptor signaling pathway,32 in ROP group and 29 in control group.ND and FZD4 gene mutations were not found among all cases.Eight types of LRP5 mutations were found in 26 cases of ROP group,including 7 cases of Exon18 missense mutation [c.3989C ＞ T;p.Ala1330Val (rs3736228)],5 cases of Exon8 synonymous mutation (c.1647T ＞ C;p.Phe549Phe),5 cases of Exon6 intronic mutation [c.1412 + 8G ＞ A (rs4988319)],3 cases of Exon2 missense mutation [c.266A ＞ G;p.Gln89Arg (rs41494349)],2 cases of Exon21 intronic mutation [c.4349-17C ＞ T (rs372086596)],2 cases of Exon19 synonymous mutation (c.4089C ＞ T;p.Asp 1363 Asp),one case of Exon9 synonymous mutation (c.1 932G ＞ A;p.Glu644Glu),and one case of Exon16 missense mutation (c.3580C ＞T;p.Arg1194Cys).Three types of LRP5 mutations were found in 6 cases of the control group,including 4 cases of Exon8 synonymous mutation,one case of Exon19 synonymous mutation,and one case of Exon9 synonymous mutation.The positive rates of Exonl8 missense mutation and Exon6 intronic mutation in severe ROP group were significantly higher than the control group (P ＜ 0.05).Conclusion LRP5 gene mutations in Wnt receptor signaling pathway may be associated with the occurrence of severe ROP.

Experimental study of improved arthroscopic reconstruction of posterior cruciate ligament using tibial Inlay technique / 中华骨科杂志

Objective To improve the arthroscopic posterior cruciate ligament (PCL) reconstruction using tibial Inlay technique. Methods The special arthroscopic device and related fixation technique were designed. Five cadaveric knees were used to simulate the process of arthroscopic posterior cruciate ligament reconstruction using tibial Inlay technique. The knees were cut open to observe whether the outlet of the tibial tunnel shape and location met the design requirements. Thirty normal MRI films were measured to identify tunnel angle and localizer angle. Results The inner outlet of tunnel was conical shape(14 mm×7 mm×15 mm) and the outer outlet was cylinder-shaped (a diameter of 7 mm). The tibial drill was designed into a split structure and could be assembled in vitro. According to the data obtained from MRI films, the angle between the plane of posterior cruciate ligament and horizontal place was 36°-47°, and the localizer was fixed at 50°.The achilles tendon was used as implant and the allogft bones were designed into conical shape to fit the inner outlet of tunnel. The other end of implant to the proximal tibia was fixed with button plate. All reconstruction operations were performed under arthroscopy. The outcomes of procedure were satisfactory. There were no vascular or peripheral nerve injuries in the cadaveric knees The tunnel position was accurate and the shape of tunnel had met the design requirements. Conclusion Our results imply that improved arthroscopic of posterior cruciate ligament using tibial Inlay technique is simple, accurate, rapid and stable fixation.

Effect of HBx gene RNA interference combined with chemotherapy on hepatocellular carcinoma cells / 中南大学学报(医学版)

OBJECTIVE@#To determine the influence of HBx gene RNA interference combined with chemotherapy on stable hepatocellular carcinoma cells growth and its apoptosis mechanism.@*METHODS@#Stable hepatocellular carcinoma cells transfected by shRNA aiming at HBx together with independent control series (MHCC97-H,HK3, and 21543) were identified. The extent of HBx gene by RNA interference was detected by RT-PCR. The influence of cell growth through RNA interference was observed with cell counting kit-8 (CCK8), the diversity of cell cycle by flow cytometry and cell apoptosis were detected by TUNEL apoptosis detection kit.@*RESULTS@#RT-PCR demonstrated that the HBx mRNA level of 21,543 cell down regulation was 91%. The HBx mRNA level of HK3 cells was not different from MHCC97-H cell. The growth of 21,543 cells was obviously slower than MHCC97-H cells and HK3 cells, with no significant difference. The cell cycle of 21,543 cells showed that hepatocellular carcinoma cells through RNA interference targeting at HBx delayed in go to S stage, and the proliferation activity degraded obviously. The 3 kinds of cells adding different concentrations of flurouracil and cisplatin grew slowlier than the origin cells. The growth inhibition was dependent on the concentration of drug with growth inhibition of 21,543 cells the most obvious.That of the 3 kinds of cells adding alpha-interferon was not obvious.Flurouracil induced apoptosis in all cells. Apoptosis in 21,543 cells was the most obvious.@*CONCLUSION@#RNA interference targeting at HBx can suppress the growth of hepatocellular carcinoma cells. Hepatocellular carcinoma cells through RNA interference targeting at HBx can intensify chemo-sensitivity. Combination of RNA interference targeting at HBx with chemotherapeutics can induce apoptosis in more hepatocellular carcinoma cells and cell proliferation steps down accordingly.

Clinical Application of D-test in Pseudomonas aeruginosa / 中华医院感染学杂志

OBJECTIVE To investigate the incidence rate of Pseudomonas aeruginosa whose ceftazidime resistance was induced by imipenem and the relationship of excretion pump with sensibility of imipenem and ceftazidime.METHODS The sensibility to 15 antibacterials and ceftazidime resistance induced by imipenem were detected by slip diffusion method,detect these bacteriumas′s MIC to Imipenem and Ceftazidime before and after excretion pump inhibitor hydroxide radical cyanogen chlorine phenylhydrazone(CCCP) were added by agar dilution,detect Ceftazidime′s MIC value which were added different concentration imipenem by agar dilution.RESULTS From 325 strains 116 strains(35.7%) were imipenem induced ceftazidime-resistant drug fast,from them 80.2% were imipenem-resistant and ceftazidime-sensitive,19.8% were imipenem and ceftazidime both sensitive.Sensibility to imipenem and ceftazidime was no marked change before and after CCCP added,MIC value of ceftazidime was step up 4-12 times by imipenem.CONCLUSIONS The incidence rate of ceftazidime-resistant P.aeruginosa induced by imipenem is high,clinical microbiological laboratory should evolve D-test to guide clinician use antibacterials more reasonable.

Drug-resistance and Genotyping of Klebsiella pneumoniae Producing ESBLs and AmpC Beta-lactamases 2006 to 2007 / 中华医院感染学杂志

OBJECTIVE To investigate the drug resistance and the status of producing ESBLs and AmpC beta-lactamases of Klebsiella pneumoniae isolates from 2006 to 2007 in local district.METHODS From 2006 to 2007,110 strains of K.pneumoniae insensitive to cefoxitin were collected.The sensitiveness to 16 antibiotics were tested by K-B method and microdilution method.Genes of TEM,SHV,GES,PER,CTX-M-1,CTX-M-2,CTX-M-3,DHA and MIR-1/ACT-1 were tested by PCR.The gene transfer was detected by conjugation test.RESULTS The resistance rate of 110 K.pneumoniae strains to meropenem,imipenem,piperacillin/tazobactam,cefoperazone/sulbactam,ceftazidime and cefepime was 0-49.9%.The resistance rate to other antibiotics was 80-100%.And ESBLs production was the main result.Genes of ESBLs were CTX-M and SHV.Genes of AmpC beta-lactamases were ACT and DHA.They all could transfer the drug-resistance from plasmid to receptor bacteria.CONCLUSIONS Co-existing of ESBLs and AmpC beta-lactamases is the main reason of multi-drug resistance that K.pneumoniae.Transferring of drug-resistance gene leads to the spreading of drug-resistance.The drug-resistance rate of K.pneumoniae decreased during the last two years.

A biomechanical system that can apply fluid shear stress to osteoclast-like cells in vitro / 生物医学工程学杂志

On the basis of the well-established principles and techniques about flow chamber, we have designed and made a kind of parallel plate system to apply steady fluid shear stress to osteoclast-like cells etc. in vitro. Biocompatible rubber and metal clamping apparatus made of aluminium alloy are used to seal the flow chamber without changing its even height designed beforehand. The influence of hydrostatic pressure on cells is minimized by adjusting the glass slide and the fluid surface in the upper reservoir to the same horizontal plane. This system can be used to investigate the responses of osteoclast-like cells etc. to fluid shear force in terms of morphology, physiology or biochemistry.