Objective:To construct an automatic recognition system for PD patients with freezing of gait (FOG) based on mobile phone videos by recording the gait videos of PD patients with FOG.Methods:Forty-nine PD patients with FOG, admitted to our hospital from December 2020 to May 2021, were chosen in our study. Their clinical data were collected. The processes of these patients accepted "3-meter-round trip" and "3-meter-round trip through narrow (0.6 m)" were recorded and 87 valid gait videos were extracted. Position signals of key points in the video were extracted, and featured data were extracted after signal preprocessing. From the featured data, action recognition model, straight FOG recognition model and turn FOG recognition model were established respectively, and finally end-to-end FOG recognition model was formed. Leave-one-subject-out (LOSO) method was used to evaluate the performance of the above models.Results:A total of 22 066 non-FOG window samples and 3815 FOG window samples were obtained from 87 valid videos, which constituted the training sample pool of this study. LOSO method showed that the motion recognition model enjoyed 83.27% sensitivity, 91.38% specificity, and 89.28% accuracy; the straight FOG recognition model enjoyed 57.69% sensitivity and 88.12% specificity; the turn FOG recognition model enjoyed 61.54% sensitivity and specificity 98.72%; and the end-to-end FOG recognition model enjoyed 85.71% sensitivity and 75.73% specificity.Conclusion:The automatic recognition system for PD patients with FOG based on mobile phone videos has relatively high sensitivity and specificity, which can realize remote assessment and is convenient for screening and follow-up of PD patients with FOG.

Objective To investigate the value of neutrophil CD64 combined with monocyte chemotactic protein 1 (MCP-1),interleukin-8 (IL-8) and interferon-inducible protein-10 (IP-10) in the clinical diagnosis of neonatal sepsis.Method Cases of neonatal sepsis from March 2015 to June 2016 in the department were chosen as sepsis group.35 neonates with non-infection diseases were selected as noninfection group and 40 healthy newborn infants were assigned as control group.The level of CD64 in blood were detected by flow cytometry,while the level of MCP-1,IL-8 and IP-10 of the serum in the three groups were detected by automatic biochemical analyzer.The differences between groups were compared by single factor ANOVA.The ROC curves of sepsis diagnosed by whole blood CD64,serum MCP-1,IL-8 and IP-10 were drew.Result The level of CD64,IL-8 and IP-10 of the neonatal blood in the sepsis group were significantly higher than that in the non-infection group (P ＜ 0.05) and control group (P ＜ 0.05).There were no significant difference between the sepsis group and non-infection group in MCP-1 (P ＞ 0.05),but significantly higher than that in the control group (P ＜ 0.05).The levels of serum MCP-1 and IP-10 in the non-infection group were significantly higher than those in the control group (P ＜ 0.05),but there was no significant difference between the non-infection group and control group in CD64 and IL-8 (P ＞0.05).The optimal thresholds of blood CD64,MCP-1,IL-8 and IP-10 in the diagnosis of sepsis were 35.0 MFI,58.6 ng/L,60.3 ng/L,0.46 μg/L.The sensitivity and specificity of the diagnosis of sepsis were 92.8％ and 90.6％ in CD64,70.0％ and 42.6％ in MCP-1,78.5％ and 68.0％ in IL-8,72.8％ and 54.6％ in IP-10,97.1％ and 94.6％ when combined.Conclusion The combination test of CD64,MCP-1,IL-8 and IP-10 can improve the sensitivity and specificity of the diagnosis of sepsis.

Objective To study the levels of interleukin-6 (IL-6) and C-reactive protein(CRP) in umbilical cord serum of the newborns with premature rupture of membrane(PROM)and to explore the value of IL-6 and CRP in the diagnosis of early onset neonatal sepsis (EONS).Method A total of 187 term newborns with PROM ＞ 12 h who were born normal vaginally in our Hospital from April 2015 to December 2015 were enrolled in this study as the PROM group and another 50 term infants without PROM and infection as the control group.The levels of IL-6 and CRP in umbilical cord serum were quantified by ELISA,the results of which were compared between groups.Receiver operating characteristics (ROC) curves were drawn to find out the cut-off value of IL-6 and CRP for the diagnosis of EONS.Result The levels of IL-6 and CRP in umbilical cord serum in the PROM group were significantly higher than those in the control group [IL-6 20.3 (9.5,35.8) pg/ml vs.9.3 (6.9,27.5) pg/ml,CRP 0.42 (0.25,0.78) mg/L vs.0.33 (0.18,0.45) mg/L,P ＜ 0.05].The levels of IL-6 and CRP in the newborns whose mother had chorioamnionitis were significantly higher than those in the newborns whose mother was without chorioamnionitis [IL-6 62.5 (35.2,92.7) pg/ml vs.10.8 (9.3,33.4) pg/ml,CRP 0.86 (0.44,1.95) mg/L vs.0.35 (0.20,0.62) mg/L,P ＜0.05].The levels of IL-6 and CRP in the infants with PROM≥18 h was significantly higher than those in the infants with PROM ＜ 18 h [IL-6 32.1 (9.9,42.2) pg/ml vs.10.7 (9.2,32.6) pg/ml,CRP 0.44(0.29,0.86) mg/L vs.0.35 (0.23,0.61) mg/L,P ＜ 0.05].The levels of IL-6 and CRP in the neonates with EONS was significantly higher than those in the neonates without EONS [IL-6 92.0 (58.3,161.0) pg/ml vs.20.0(9.4,35.2)pg/ml,CRP 1.94(0.47,2.73) mg/L vs.0.38(0.24,0.67) mg/L,P ＜ 0.05].ROC curve analysis showed that the cut-off value of IL-6 and CRP for the diagnosis of EONS were 81.lpg/ml (sensitivity 76.5％,specificity 90.6％) and 1.88mg/L (sensitivity 64.7％,specificity 89.4％).With the combination of IL-6 and CRP levels,the sensitivity was 88.2％ and the specificity was 84.1％ for the diagnosis of EONS.Conclusion To measure the IL-6 and CRP levels in umbilical cord serum is helpful for the early diagnosis of EONS,and the combined detection of the 2 items may improve the sensitivity of diagnosis.

Objective To evaluate the role of ibuprofen and hydrocortisone in early treatment of patent ductus arteriosus ( PDA ) in premature infants with low cortisol level . Method A prospective randomized controlled trial on 144 very low birth weight infants in the Hospital within 24 hours after birth with gestational age of 28~32 weeks and birth weight of 1000~1499 grams,who had asymptomatic PDA diagnosed by echocardiography , introducing early administration of drugs including ibuprofen and /or hydrocortisone within the first 24 ~48 hours after birth.According to the baseline of serum cortisol level measured prior to the administration of drugs , the preterm were assigned into two groups .The low cortisol level group ( the cortisol level <150μg/L) were further subdivided into four groups each being allocated to hydrocortisone or ibuprofen or both of hydrocortisone and ibuprofen combined or placebo treatment .The high cortisol level group ( the cortisol level≥150μg/L) were allocated to either ibuprofen or placebo treatment in randomization.Diameter of ductus arteriosus and cortisol value were measured again after treatment , and the follow-ups were undertaken till discharge .All data was collected and analyzed by statistical software .Result A total of 91 cases were in low cortisol level group ( 22 cases of hydrocortisone , 23 cases of ibuprofen , 21 cases of both hydrocortisone and ibuprofen , and 25 cases of placebo ) and 53 cases in high cortisol level group (26 cases of placebo and 27 cases of Ibuprofen ).Low cortisol level group , combined therapy , closure of the ductus at a rate of 81.0%, was higher than other methods of therapy ( P<0.05);high cortisol level group, the ductus arteriosus closed in 20 patients of ibuprofen therapy ( 74.1%) and in 13 patients of placebo treatment (50.0%) (P<0.05).Early treatment did not significantly increase the drug adverse effects, including impaired renal function , gastrointestinal bleeding , hyperglycemia and others. After comparisons between laboratory changes in early targeted groups and non-early targeted groups after treatment, findings were as follows: decrease in the incidence of apnea , myocardial damage , feeding intolerance , intraventricular hemorrhage and reduce the duration of phototherapy .Conclusion This trial proved the efficacy and safety of early therapy with ibuprofen and hydrocortisone for closure of ductus arteriosus in premature infants with low cortisol level and the decreasing incidence of complications due to PDA without increasing the risk of adverse effects .

Objective To investigate the significance of CD64 combined with C-reactive protein (CRP) and procalcitonin(PCT) in the diagnosis of neonatal sepsis.Methods A total of 70 neonates diag-nosed with neonatal sepsis(sepsis group),35 cases of non-infectious diseases(non-infected group),and 40 healthy newborns(healthy control group) were enrolled in the Department of Pediatrics,Fuzhou First Hospital Affiliated to Fujian Medical University from July 2015 to June 2016. Serum CD64 was detected by flow cytometry.Serum CRP and PCT were detected by automatic biochemical analyzer,and the results were com-pared and analyzed.Results The levels of serum CD64,CRP and PCT in sepsis group were significantly higher than those in non-infected group and healthy controls(P <0.05).The sensitivity and specificity of CD64 combined with CRP and PCT in the detection of neonatal sepsis were 97.14% and 96.00%,and the sensitivity and specificity in the combined detection were higher than those in three indicators alone.Conclusion CD64 combined with CRP and PCT in the detection of neonatal sepsis can improve the specificity,and provide the basis for early diagnosis.

OBJECTIVETo assess the frequencies of CYP21A2 gene mutations among patients from Fujian area with classical 21-hydroxylase deficiency.

METHODSFor 19 probands from different families affected with classical steroid 21-hydroxylase deficiency and 74 family members, mutations of the CYP21A2 gene were analyzed with combined nested polymerase chain reaction, Sanger sequencing and multiplex ligation-dependent probe amplification. Time resolved fluorescence immunoassay was performed to determine the level of 17-hydroxyprogesterone (17-OHP) in all family members. Clinical data and laboratory results of the probands and their family members were analyzed.

RESULTSEleven mutations were identified among the 38 alleles from the 19 probands. 92.1% (35/38) of the mutant CYP21A2 alleles were due to recombination between CYP21A2 and CYP21A1P. Gene conversion and deletions were identified in 84.2% (32/38) and 7.9% (3/38) of the alleles, respectively. IVS2-13A/C>G and chimeras were the most common mutations, which respectively accounted for 34.2% (13/38) and 18.4% (7/38) of all mutant alleles. Among these, IVS2+1G>A and Q318X+356W were first reported in China. 74.3% (55/74) of the family members were carriers of heterozygous mutations. However, no significant difference was found in the 17-OHP levels between carriers and non-carriers (P>0.05).

CONCLUSIONThere seems to be a specific spectrum of CYP21A2 gene mutations in Fujian area, where IVS2-13A/C>G and chimeras are the most common mutations.

Adrenal Hyperplasia, Congenital ; genetics ; Alleles ; Female ; Humans ; Male ; Mutation ; genetics ; Steroid 21-Hydroxylase ; genetics

OBJECTIVETo assess the association of thyroperoxidase (TPO) gene polymorphisms with dyshormonogenesis in congenital hypothyroidism (CH).

METHODSThe 17 exons and flanking introns of the TPO gene from 30 randomly selected samples were sequenced for the selection of single nucleotide polymorphisms (SNPs). In 136 patients with dyshormonogenetic CH and 141 healthy controls from the same region, the selected SNPs were genotyped by polymerase chain reaction (PCR) and direct sequencing or PCR-restriction fragment length polymorphism (RFLP).

RESULTSSix SNPs (rs9678281, rs376413622, rs1126797, rs4927611, rs732609 and rs1126799) were selected to determine the genotype for each sample. Among these, rs4927611 and rs732609 showed a significant difference between the two groups in both allelic and genotypic frequencies. With a recessive model of inheritance, rs732609 CC (OR=0.484, 95%CI: 0.253-0.927, P=0.04) and rs4927611 TT (OR=0.32, 95%CI: 0.112-0.915, P=0.047) were greater in the patients.

CONCLUSIONrs4927611 and rs732609 may be associated with dyshormonogenetic CH. rs4927611 TT and rs732609 CC are genotypes associated with potential risk for the disease.

Alleles ; Autoantigens ; genetics ; Base Sequence ; Child, Preschool ; Congenital Hypothyroidism ; blood ; genetics ; Female ; Gene Frequency ; Genetic Predisposition to Disease ; genetics ; Genotype ; Humans ; Infant ; Infant, Newborn ; Iodide Peroxidase ; genetics ; Iron-Binding Proteins ; genetics ; Linkage Disequilibrium ; Male ; Polymerase Chain Reaction ; Polymorphism, Restriction Fragment Length ; Polymorphism, Single Nucleotide ; Risk Factors ; Thyrotropin ; blood ; Thyroxine ; blood

OBJECTIVETo study the characteristics of phenylalanine hydroxylase gene (PAH) mutations in patients with PAH deficiency in Fujian population.

METHODSPeripheral blood samples of 36 patients and their parents with classical type phenylketouria (PKU) were collected. Genomic DNA was extracted. Following PCR amplification, DNA sequencing was carried out to identify the origins of mutations.

RESULTSTwenty types mutations were identified in 63 of the 72 alleles. The most common mutations were R241C, R408Q and Ex6-96A>G, which respectively accounted for 15.9%, 12.7% and 11.1% of all mutant alleles. The c.189_190dupTGAC mutation was first reported. R241C was associated with 28% of mild hyperphenylalaninemia and R408Q is associated with 25% of classical PKU.

CONCLUSIONThere is a specific spectrum of PAH gene mutation in Fujian region. R241C, R408Q and Ex6-96A>G are the most common mutations.

Adolescent ; Alleles ; Asian Continental Ancestry Group ; genetics ; Base Sequence ; Child ; Child, Preschool ; China ; Female ; Genotype ; Humans ; Male ; Molecular Sequence Data ; Mutation ; Phenylalanine Hydroxylase ; genetics ; Phenylketonurias ; enzymology ; genetics

Objective To identify the risk factors for nosocomial sepsis in preterm infants.Methods A case-control study (1 ∶ 2) was conducted in 81 preterm infants with nosocomial sepsis and 162 preterm infants without nosocomial sepsis as age-matched controls (admission time was the most closely) hospitalized in Fujian Maternity and Children Hospital from January 1,2007 to December 31,2011.Data of preterm infants including maternal,delivery and neonatal records were collected.Risk factors for nosocomial sepsis were analyzed using t test,x2 test and multivariate Logistic regression.Results Nosocomial sepsis occurred in 81 preterm infants with an incidence rate of 1.50％ (81/5 392).Univariate analysis showed that the gestational age [(31.8 ±2.4)vs(33.8 ± 1.8)weeks,t=-7.260,P＜0.01] and birth weight [(1 545± 349) vs (2 174±465) g,t=-10.750,P＜0.01] of neonates with nosocomial sepsis were lower than those in the controls.Compared with the controls,the neonates with nosocomial sepsis had higher incidence of small for gestational age [27.2％ (22/81) vs 11.7％ (19/162)],multiple birth [35.8％ (29/81) vs 21.6％ (35/162)],neonatal asphyxia [19.8％(16/81)vs 8.6％(14/162)],admission to neonatal intensive care unit [81.5％(66/81) vs 49.4％ (80/162)],incubator usage [87.7％ (71/81) vs 29.0％ (47/162)],intracranial hemorrhage [27.2％ (22/81)vs 14.2％ (23/162)],noninvasive ventilation [35.8％ (29/81)vs 14.8％ (24/162)],feeding intolerance [64.2％ (52/81) vs 17.9％ (29/162)],using probiotics [65.4％ (53/81) vs 37.0％ (60/162)],duration of parenteral nutrition ＞7 days [77.8％ (63/81) vs 16.0％ (26/162)],combined administration of antibiotics [61.7％(50/81) vs 43.8％(71/162)],duration of antibiotics administration ＞7 days [65.4％(53/81) vs 9.3％ (15/162)],intravenous immunoglobulin [76.5％ (62/81) vs 46.9％ (76/162)] and central vena catheterization [16.0％ (13/81) vs 1.2％ (2/162)] (all P＜0.05).The Logistic regression analysis showed that low birth weight (OR=2.087,95％CI:1.074 4.057),duration of parenteral nutrition ＞7 days (OR=3.075,95％CI:1.158 8.164),feeding intolerance (OR-4.328,95％CI:1.776-10.544) and duration of antibiotic administration ＞7 days (OR=18.443,95％CI:5.084-66.913) were independent risk factors for nosocomial sepsis in preterm infants (all P＜0.05).Conclusions Preterm infants with low birth weight,long duration of parenteral nutrition,long-term antibiotic treatment and feeding intolerance have high risk for nosocomial sepsis.

Objective To compare the efficacy and safety of oral ibuprofen and indomethacin for the closure of patent ductus arteriosus (PDA) in preterm infants and investigate the factors affecting the effect of indomethacin.Methods Two hundred and four preterm infants with symptomatic PDA were enrolled in this retrospective study.They were divided into two groups accroding to the admission date.From Jan.1,2007 to Dec.30,2009,44 infants orally administered ibuprofen (one course:first dose was 10 mg/kg,followed by two doses of 5 mg/kg at 24 h intervals) were as ibuprofen group.From Dec.31,2009 to Jan.31,2011,160 infants orally administered indomethacin (one course:0.2 mg/kg,at 12 h and 24 h intervals for three times) were as indomethacin group.Chisquare test,t test and rank sum test were used to compare the rate of ductal closure,side effects and complications of two groups.Influence factors of indomethacin therapy were analyzed with Logistic regression.Results There were no differences of overall ductal closure rate [77.3％ (34/44) vs 70.6％ (113/160),x2 =0.757,P＞0.05],one course therapy [68.2％ (30/44) vs 63.8％(102/160),x2=0.297,P＞0.05] and two courses therapy closure rate [9.1％ (4/44) vs 6.9％(11/160),x2 =0.030,P＞0.05] between i buprofen group and indomethacin group.The incidences of oliguria [＜1 ml/(kg ? h)] and high serum creatinine (＞88 μmol/L) of indomethacin group were higher than those in ibuprofen group [21.3％ (34/160) vs 6.8％ (3/44),x2=4.841,P=0.028;26.9％ (43/160) vs 9.1％ (4/44),x2=6.156,P=0.013].Logistic regression analysis showed that small gestational age (OR=2.563,95％CI:1.099-5.976,P=0.029),neonatal respiratory distress syndrome (OR=2.407,95％CI:1.023-5.664,P=0.044)and septicemia (OR=4.575,95％CI:1.782-26.768,P=0.009) were unfavorable factors for ductal closure in preterm infants underwent indomcthacin therapy,while antenatal steroid (OR=0.530,95％CI:0.312-0.901,P=0.018) was a favorable factor.Conclusions Oral ibuprofen have the same effects as indomethacin on PDA treatment in preterm infants,but with fewer side effects on renal function in terms of urine output and serum creatinine level.Some factors such as septicemia may affect the theraputic effects.