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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.
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Objective:To explore the effects of probiotics on feeding intolerance and early growth and development of preterm and very low birth weight infants (VLBWI).Methods:A total of 446 patients with VLBWI were enrolled in Henan Children′s Hospital from March 20, 2019 to March 20, 2022. They were divided into breast milk group (119 cases), breast milk+probiotic group (108 cases), formula group (115 cases) and formula+probiotic group (104 cases) according to the feeding mode and whether they received early probiotic supplement or not. The feeding programs of each group were carried out according to the “2013 Clinical Application Guide of nutritional support for newborn infants” and “the feeding guidelines for VLBWI”. On this basis, the probiotic supplement group was treated with Clostridium butyricum powder at a dose of 0.25 g/twice a day for 2 weeks, nasal feeding or bottle administration. The incidence of feeding intolerance, the time of recovery of birth weight, the time of reaching total gastrointestinal feeding, and the time of hospitalization in each group were observed, and the average increment of body mass, head circumference and body length in each group at 28 days after birth were compared.Results:In breast milk group, the incidence of feeding intolerance, total gastrointestinal feeding time, and hospital stay were significantly lower than those in the formula group [40.3% vs 47.8%, (13.2±2.4) vs (14.9±1.9) d, (26.5±7.5) vs (29.8±9.6) d], besides, the average increments of early growth and developmental indexes such as body mass, head circumference, and body length at 28 days of birth were significantly lower than those in the formula group [(15.4±2.7) vs (17.7±3.7) g/d, (5.8±1.0) vs (6.2±1.0) mm/week, (6.8±0.7) vs (7.3±0.8) mm/week], however, the recovery time of birth weight in the breast milk group was significantly higher than that in the formula group [(6.2±1.2) vs (5.3±1.4) d] (all P<0.05). The incidence of feeding intolerance, the recovery time of birth weight, the total gastrointestinal feeding time and the hospital stay in the breast milk+probiotics group were significantly lower than those in the breast milk group [34.3% vs 40.3%, (5.4±1.2) vs (6.2±1.2) d, (10.4±1.9) vs (13.2±2.4) d, (22.9±5.6) vs (26.5±7.5) d], besides, the average increments of body mass, head circumference and body length at 28 days of birth was significantly higher than that in the breast milk group [(17.2±3.5) vs (15.4±2.7) g/d, (6.2±1.0) vs (5.8±1.0) mm/week, (7.2±0.8) vs (6.8±0.7) mm/week] (all P<0.05). The incidence of feeding intolerance, total gastrointestinal feeding time and hospital stay in breast milk+probiotics group were significantly lower than those in formula+probiotics group [34.3% vs 47.1%, (10.4±1.9) vs (15.3±2.0) d, (22.9±5.6) vs (30.4±8.2) d] (all P<0.05), besides, there was no significant difference in the average increments of early growth and developmental indexes between the breast milk+probiotics group and the formula+probiotics group (all P>0.05). There were no significant difference in the above indexes between the formula+probiotics group and the formula group (all P>0.05). Conclusion:Probiotics can improve the clinical outcome of feeding intolerance and promote early growth and development of breast feeding VLBWI.
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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.
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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.
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Objective:To study the effect of compound Lactobacillus acidophilus on the apoptosis of intestinal epithelial cells and expression of proliferating cell nuclear antigen (PCNA) in rats with necrotizing enterocolitis, so as to provide some theoretical reference for the application of compound Lactobacillus acidophilus in the prevention and treatment of necrotizing enterocolitis(NEC) for newborn infants. Methods:Thirty-six 48-hour old newborn SD rats were randomly divided into normal group, model group and intervention group, with 12 rats in each group.The NEC model was established by hypoxia and cold stimulation for 3 days, and the intervention group was given the compound Lactobacillus acidophilus at the same time; after the model was established, all the rats were sacrificed after 12 hours of fasting and their intestinal tissues were excised by terminal-deoxynucleoitidyl transferase mediated nick end labeling (TUNEL) method to determine the condition of apoptosis and to detect expression of the PCNA gene in the intestinal tissues by fluorescent quantitative PCR. Results:(1) The apoptosis rates of the intestinal tissues: in the model group, the normal group and the intervention group were (88.33±2.77)%, (4.75±0.75)% and (44.41±4.81)%, respectively, and the differences had statistical significance(all P<0.05). (2) The PCNA expression in the intestinal tissue by real-time PCR in the model group, normal group and intervention group were (9.28±3.26)×10 -4, (15.35±1.91)×10 -4 and (12.09±3.06)×10 -4, respectively, and the differences had statistical significance(all P<0.05). Conclusions:The apoptosis rate of intestinal epithelial cells increases and PCNA expression decreases when NEC occurs.Compound Lactobacillus acidophilus can reduce apoptosis, promote intestinal epithelial cell proliferation, and thus help to reduce the risk and severity of NEC in neonatal rats.
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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.
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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.
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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.
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Objective To investigate the apathy and neuropsychological characteristics of newly diagnosed Parkinson's disease (PD) patients.Methods Eighty-two newly diagnosed PD patients and 30 matched healthy controls by age,sex and education level were recruited in the present study.Apathy was assessed using Apathy Evaluation Scale (AES) and related factors,including age,sex,education level and disease duration were simultaneously evaluated.Unified Parkinson's Disease Rating Scale (UPDRS),Hamilton Depression Rating Scale (HAMD),as well as Montreal Cognitive Assessment (MoCA) were employed in order to respectively evaluate the motor function,depression and cognition.Results The AES scores in the PD patients were significantly higher when compared to the healthy controls.The prevalence of apathy and depression in the PD patients was 51.2％ (42/82) and 19.5％ (16/82),respectively.There were no statistically significant differences in age,sex,education level,UPDRS-Ⅱ/Ⅲ scores and MoCA scores between apathy (n =42) and no-apathy (n =40) PD patients (P ＞ 0.05),while the statistically significant difference in HAMD scores between apathy (n =42) and no-apathy (n =40) PD patients was shown (the HAMD scores of apathy PD patients were 10.61 ± 3.30,the HAMD scores of no-apathy PD patients were 5.96 ± 1.90,t =7.87,P ＜ 0.05).The correlation analysis indicated that there were no correlations between AES scores and the related factors,including age,education level,disease duration and UPDRS-Ⅱ / Ⅲ scores,but AES scores were positively correlated with HAMD scores.Conclusion In newly diagnosed PD patients,the apathy is independent of depression,motor dysfunction,as well as cognitive impairment,which may be an early signal for PD.
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Objective To compare the effects of intra-sinus thrombolysis by using urokinase and heparin anticoagulation alone for cerebral venous sinus thrombosis (CVST).Methods Consecutive inpatients with CVST were enrolled retrospectively.Their demographic and clinical data were collected.The treatment mainly consists of intra-sinus thrombolysis by using urokinase and heparin anticoagulation alone.The outcomes were evaluated according to the modified Rankin scale (mRS) at 6 months.The mRS score ＜ 2 was defined as good outcome,and ≥2 was defined as poor outcome.Results A total of 36 patients were enrolled,including intra-sinus thrombolysis by using urokinase (n =18) and heparin anticoagulation alone (n =18).Twenty-one had good outcomes and 15 had poor outcomes.After treatment,the recanalization rate (94.4％ vs.66.7％ ;x2 =3.850,P=0.041) of the urokinase thrombolysis group and the good outcome rate at 6 months (72.2％ vs.44.4％ ; x2 =3.827,P =0.046) were significantly higher than those of the heparin anticoagulation group.The proportion of the patients receiving intra-sinus thrombolysis by using urokinase of the good outcome group was significantly higher than that of the heparin anticoagulation group (60.0％ vs.18.2 ％ ; x2 =5.360,P =0.021).Multivariate logistic regression analysis showed that the intrasinus thrombolysis by using urokinase was an independent protective factor for good outcomes in patients with CVST (odds ratio,1.085,95％ confidence interval 1.024-1.361; P=0.023),and the high coagulation state was its independent risk factor (odds ratio,0.185,95％ confidence interval 0.049-0.611;P=0.004).None of the patients occurred symptomatic cerebral hemorrhage.Conclusions Intra-sinus thrombolysis with urokinase may improve the outcomes for patients with CVST,and it is superior to the heparin anticoagulation alone.
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BACKGROUND:Edaravone as an antioxidant protective effect on nerve cells injured by hydrogen peroxide has been confirmed, but its protective effect on oxidative damage to bone marrow stromal cells has not been reported in-depth. OBJECTIVE:To investigate the regulatory effects of edaravone on oxidative injury to bone marrow stromal cells. METHODS:Bone marrow samples were extracted from the long bone of New Zealand rabbits by the method of washing the pulp cavity, then subjected to the density gradient centrifugation and adherent screening to obtain bone marrow stromal stem cells in vitro. The bone marrow stromal cells at 3 passage were divided into five groups:blank group, treated with low-glucose Dulbecco’s modified Eagle’s medium containing 10%fetal bovine serum and 1%double antibody;dexamethasone group, treated with cellculture medium containing 1×10-7 mol/L dexamethasone;50, 100, 300 mg/L edaravone groups, cultured in cellculture medium containing 1×10-7 mol/L dexamethasone and 50, 100, 300 mg/L edaravone, respectively. After culture, MTT method and flow cytometry were used to detect the proliferative level and cellcycle of cells. RESULTS AND CONCLUSION:Compared with the control and dexamethasone groups, edaravone significantly enhanced the cellproliferation. Edaravone played a protective role in bone marrow stromal cells. When the concentration was 50 mg/L, edaravone began to play a regulatory role (P<0.05), and this effect was certainly associated with the concentration of edaravone. When the concentration was up to 100 mg/L, edaravone showed a better protective role (P<0.01). However, with increasing concentration, this protective effect was not further increased, but decreased slightly. Results indicated that high-concentration dexamethasone can induce oxidative injury to bone marrow stromal cells, and edaravone can protect the cells against this oxidative damage by antioxidant role.
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Objective To investigate the changes of serum cytokines IL-2,IL-8,IL-10 and IFN-? in infants with cytomegalovirus hepatitis before and after ganciclovir treatment,and explore the underlying mechanisms of ganciclovir and the immunological changes in the development and progression of cytomegalovirus(CMV) infection.Methods CMV-IgM in the serum samples of 72 infants with identified cytomegalovirus infection were measured by enzyme-linked immunosorbent assay(ELISA).CMV DNA in blood was measured by quantitative PCR.CMV-IgM(+) and CMV DNA(+) were as observed group 1(35 cases,without hepatitis).Those with abnormality of ALT were regarded as observed group 2(37 cases,with hepatitis).Another 30 matched healthy infants were enrolled as healthy control group.Levels of serum IL-2,IL-10,IL-8 and IFN-? of each group were examined by ELISA,and CMV masculine hepatitis group were cured with ganciclovir(5mg/kg,i.v.,twice per day for 14 d,and then once per day for 14 d after a 7 days'interval),then the levels of above factors were examined again.Results The levels of IL-8 and IL-10 in observed group 1 were significantly higher than those in healthy control group(t=3.74,9.56;P0.05).After ganciclovir treatment,the level of IL-2 in observed group 2 was significantly higher than that in observed group 1(t=3.41,P0.05).The levels of IL-8,IL-10 and IFN-? were decreased significantly(t=6.52,7.24,14.23;P
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Objective:To analyze the clinical and laboratory features of children with acute disseminated encephalomyelitis(ADEM),in order to raise awareness of this disease and improve the early diagnosis and treatment.Methods:Clinical situation,auxiliary examination results,treatment and the prognosis of 60 children with ADEM admitted from January 2005 to January 2007 to Chongqing medical university Children's hospital were analyzed.Results:In the 60 cases,there were 49 casea of history of upper respiratory tract infection,2 cases of history of vaccination,9 cases of no significant predispasition.The disease onset was acute or subacute;The first symptoms displayed disorder of the activities,conscious disturbance,convulsions and paroxysmal headache and dizziness.The main clinical manifestations showed 30 cases of brain-type,25 cases of brain-spinal cord,5 cases of spinal cord type.Cerebrospinal fluid of 48 cases was abnormal,MRI examination of 43 patients out of 47 patients,the cerebral cortex or spinal cord T1-weighted imaging showed low mixed signal,T2-weighted imaging was not homogeneous signal or high signal.Therapy with corticosteroids and immunoglobulin was effective for ADEM.Conclusion:The clinical features of children ADEM were diverse,multi-site damaged.MRI has certain characteristics and is valuable for the diagnosis of ADEM.