OBJECTIVES: To investigate the difference in intestinal microbiota between preterm infants with neurodevelopmental impairment (NDI) and those without NDI. METHODS: In this prospective cohort study, the preterm infants who were admitted to the neonatal intensive care unit of Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region from September 1, 2019 to September 30, 2021 were enrolled as subjects. According to the assessment results of Gesell Developmental Scale at the corrected gestational age of 1.5-2 years, they were divided into two groups: normal (n=115) and NDI (n=100). Fecal samples were collected one day before discharge, one day before introducing solid food, and at the corrected gestational age of 1 year. High-throughput sequencing was used to compare the composition of intestinal microbiota between groups. RESULTS: Compared with the normal group, the NDI group had a significantly higher Shannon diversity index at the corrected gestational age of 1 year (P<0.05). The principal coordinate analysis showed a significant difference in the composition of intestinal microbiota between the two groups one day before introducing solid food and at the corrected gestational age of 1 year (P<0.05). Compared with the normal group, the NDI group had a significantly higher abundance of Bifidobacterium in the intestine at all three time points, a significantly higher abundance of Enterococcus one day before introducing solid food and at the corrected gestational age of 1 year, and a significantly lower abundance of Akkermansia one day before introducing solid food (P<0.05). CONCLUSIONS There are significant differences in the composition of intestinal microbiota between preterm infants with NDI and those without NDI. This study enriches the data on the characteristics of intestinal microbiota in preterm infants with NDI and provides reference for the microbiota therapy and intervention for NDI in preterm infants.
Infant ; Child ; Infant, Newborn ; Humans ; Child, Preschool ; Infant, Premature ; Prospective Studies ; Gastrointestinal Microbiome ; China ; Infant, Premature, Diseases ; Gestational Age

·AMI:To evaluate the clinical efficacy of the segmented bifocal intraocular lens (MIOL) SBL-3. ·METHODS:Totally 26 cases (26 eyes) of age-related cataract who received phacoemulsification and implantation of MIOL SBL-3 were enrolled from February 2016 to June 2017 in our hospital as the SBL-3 group. And 28 cases (28 eyes) of age-related cataract who received phacoemulsification and implantation of single focus intraocular lens intraocular lens TecnisZA9003 were enrolled as control group. At postoperative 3mo, the uncorrected visual acuity, corrected visual acuity, contrast sensitivity and patient satisfaction were compared between two groups. ·RESULTS: At preoperative, there was no statistical difference in uncorrected distance, intermediate and near visual acuity between two groups (P > 0. 05). At postoperatively 3mo, the uncorrected distance, intermediate and near visual acuity in patients of both groups were significantly improved (P < 0. 05). At postoperative 3mo,the uncorrected intermediate and near visual acuity, distance-corrected intermediate and near visual acuity, contrast sensitivity at different spatial frequencies (3, 6, 12, 18c/d) and patient satisfaction in SBL- 3 group were significantly better than those of control group (P<0.05). ·CONCLUSION:The MIOL SBL-3 not only could provide preferable distance visual acuity, but also could provide better intermediate visual acuity, near visual acuity and contrast sensitivity,and greatly increase the visual quality and satisfaction at postoperative in cataract patients.

·AIM: To compare the visual quality after different multifocal lens (MIOL) implantation in cataract patients. ·METHODS: Totally 78 cases (78 eyes) of cataract patients who receiving phacoemulsification and implantation of different MIOL were enrolled from February 2016 to June 2017 in our hospital. According to the different type of implanted MIOL, the 78 cases (78 eyes) were divided Group A,B and C,each group was 26 cases (26 eyes). Patients in the Group A were implanted regional refraction MIOL SBL-3; patients in the Group B implanted step progressive diffraction MIOL SN6AD1;patients in the Group C implanted all - optical plane diffraction MIOL Tecnis ZMB00. The visual acuity, contrast sensitivity,defocus testing,contrast visual acuity and satisfaction of visual quality were compared in 3 groups at postoperative 3mo. · RESULTS: There was no statistically significant difference in postoperative adverse reactions between the three groups (P>0.05). There was statistical difference in uncorrected intermediate visual acuity, uncorrected near visual acuity, distance - corrected intermediate visual acuity and distance- corrected near visual acuity in 3 groups (P < 0. 05), and those in the Group C were significantly worse than those of Group A and B (P<0.05). There was statistical difference in contrast sensitivity at four spatial frequencies (3,6,12,18c/d) in light and light glare and three spatial frequencies (3, 6, 12c/d) in dark and dark glare in 3 groups (P<0.05), and those in the Group A were significantly better than those of Group B and C (P<0.05). According to the defocus testing of 3 groups,the visual acuity at -1.5D,-2.0D and-2. 5D in Group A and B was significantly higher than Group C (P<0. 05). There was statistical difference in contrast visual acuity at 20% and 9% of contrast ratio in 3 groups (P<0.05),and those in Group A were significantly better than Group B and C(P<0.05). There was statistical difference in visual quality satisfaction in 3 groups (P<0.05), and that in the Group A was significantly better than that of Group B and C (P<0.05). ·CONCLUSION:The region refraction MIOL SBL-3 not only could provide better distant, intermediate and near visual acuity, but also could provide better contrast sensitivity and contrast visual acuity, thereby greatly increase visual quality satisfaction.

OBJECTIVETo evaluate the effect of combined use of stanazolol (ST) on the final adult height (FAH) in girls with idiopathic central precocious puberty (ICPP) and apparently decreased linear growth during gonadotropin-releasing hormone analog (GnRHa) therapy.

METHODSixty-three girls with ICPP and decreased velocity of growth of height (HV<4 cm/yr) during GnRHa therapy were divided into 3 groups based on the following types of interventions:group 1 (n = 20), GnRHa+ST [25-30 µg/(kg·d) every 3-month followed by 3-month discontinuation], group 2 (n = 21), GnRHa+recombinant human growth hormone [rhGH, 1-1.1 U/(kg·w)], group 3 (n = 22), GnRHa alone.HV, the advancement of bone age (BA) for chronological age (CA) (ΔBA/ΔCA) and FAH were compared among groups.

RESULT(1)Total duration of ST combination therapy was (12.22 ± 3.62) months, while total duration of combination of rhGH was (13.22 ± 6.80) months. (2)HV increased significantly in both group 1 [ (2.79 ± 0.60) cm/yr vs. (6.27 ± 1.98) cm/yr, P < 0.01] and in group 2 [(2.80 ± 0.50) cm/yr vs. (6.25 ± 1.98) cm/yr, P < 0.01] during combined therapy, but maintained at low levels in group 3 [(3.95 ± 1.10) cm/yr vs. (3.34 ± 0.95) cm/yr, P > 0.05].No significant differences of ΔBA/ΔCA were found among the three groups [0.25(0.11∼0.28), 0.22(0.15∼0.31),0.19(0.10∼0.32), P > 0.05]. (3)FAH was significantly higher than predicted adult height (PAH) before combined therapy, as well as higher than target height (THt) in both group 1 [(156.25 ± 2.90) cm vs. (150.78 ± 3.70) cm, P < 0.01, (156.25 ± 2.90) cm vs. (153.94 ± 2.62) cm, P < 0.01], and in group2 [ (157.33 ± 4.69) cm vs. (152.61 ± 3.92) cm, P < 0.01, (157.33 ± 4.69) cm vs. (154.39 ± 4.72) cm, P = 0.01].In group 3, FAH was similar to PAH [(153.88 ± 2.6) cm vs. (152.54 ± 5.86) cm, P > 0.05], and was less than THt [(153.88 ± 2.6) cm vs. (155.60 ± 4.52) cm, P = 0.02]. (4)In girls treated with ST, no hirsutism, clitorism or hoarse voice was recorded.No polycystic ovary syndrome was found by B-mode ultrasound.

CONCLUSIONIntermittent combined use of low dose ST therapy can increase HV and thus improve FAH in girls with ICPP and apparently decreased linear growth during GnRHa therapy.

Body Height ; drug effects ; Bone Development ; Child ; Child Development ; drug effects ; Drug Therapy, Combination ; Female ; Gonadotropin-Releasing Hormone ; administration & dosage ; analogs & derivatives ; therapeutic use ; Growth Disorders ; drug therapy ; Human Growth Hormone ; administration & dosage ; therapeutic use ; Humans ; Puberty, Precocious ; drug therapy ; physiopathology ; Stanozolol ; administration & dosage ; therapeutic use ; Treatment Outcome

OBJECTIVETo analyze clinical data and gene mutations in 3 Chinese patients with tyrosinemia type I, and to explore the correlation between genotypes and phenotypes.

METHODSThree patients suspected with tyrosinemia I were tested by tandem mass spectrometry for the level of tyrosine, phenylalanine and succinylacetone in the blood, and by gas chromatography-mass spectrometry to determine the level of succinylacetone and organic acid in their urine. With the diagnosis established, the FAH gene was analyzed with polymerase chain reaction (PCR) and direct sequencing.

RESULTSTwo patients had acute onset of the disease, while another had subacute onset of the disease, with features including hepatomegaly and remarkably increased tyrosine and succinylacetone in the blood. Five mutations were detected in the FAH gene, which included c.455G>A (W152X), c.520C>T (R174X), c.974_976delCGAinsGC, c.1027 G>A (G343R) and c.1100 G>A (W367X), among which c.455G>A (W152X), c.974_976delCGAinsGC and c.1100 G>A (W367X) were not reported previously.

CONCLUSIONTyrosinemia type I may be effectively diagnosed with the level of tyrosine and succinylacetone by tandem mass spectrometry and succinylacetone in the urine by gas chromatography mass spectrometry. Detection of underlying mutations mutations will be helpful for genetic counseling and further research.

Asian Continental Ancestry Group ; genetics ; Base Sequence ; China ; Female ; Humans ; Hydrolases ; genetics ; Infant ; Male ; Mutation ; Tyrosinemias ; diagnosis ; genetics

Objective To investigate standardized self-management education for diabetics outside the hospital treatment by continuous subcutaneous insulin pump insulin (CSⅡ) effect.Methods The 51 patients who received hospital stay treatment by continuous subcutaneous insulin pump insulin and post-discharge treatment by continuous subcutaneous insulin pump insulin were selected as research subjects,and randomly divided into two groups:observation group of 26 patients and the control group of 25 patients,both groups received education in the hospital and after discharge follow-up of education; observation group was to take standardized self-management education,control group to take the traditional education method.Knowledge master CSII therapy in the two groups of patients before discharge was compared.Biochemical indicators,body mass index and the abnormal situation 3 months post-discharge was compared in the two groups.Results Glycosylated hemoglobin,total cholesterol,triglycerides,body mass index were (5.81 ±0.36)％,(3.62 ±0.48)mmol/L,(1.61 ±0.46)mmol/L and (22.91 ±2.33) kg/m2,respectively,those in the control group were ( 6.57 ± 1.34 ) ％,( 4.50 ± 0.99 ) mmol/L,(1.94 ±0.74)mmol/L,and (24.20 ±2.95) kg/m2,respectively,and the differences were significant (t=2.78,4.06,1.92,1.74,respectively; P ＜ 0.05).7.6％ hypoglycemia,11.5％ skin inflammation in the infusion site,15.4％ plugging,and 15.4％ tape loose occurred in the observation group during the pump period,and those in the control group were 32.0％,64.0％,48.0％,72.0％,respectively; the incident rates in the observation group were lower than the control group,and the difference was significant (x2=4.78,15.01,6.29,16.65,respectively; P ＜0.05).Conclusions The hospital CSII-treated diabetes,standardized self-management education is better than traditional education methods; it is worth in clinical practice.

OBJECTIVETo study the influence of lipopolysaccharide (LPS) on the permeability of rat brain microvascular endothelial cells (BMECs) and possible molecular mechanism.

METHODSMonolayers of primary rat BMECs were separated and cultured, and then treated with (LPS group) or without LPS (control group). The barrier integrity was measured by transendothelial electrical resistance (TEER) assay. The degrees of RhoA activation were determined by Pull-down assay. The expression levels of p115RhoGEF, zonula occludens-1 (ZO-1), occludin and claudin-5 proteins were detected by Western blot analysis.

RESULTSThe average TEER values of rat BMECs in the LPS group were 108.3±4.2 Ω•cm2 and 85.4±2.5 Ω•cm2 respectively 3 and 12 hrs after LPS treatment, which were significantly lower than that in the control group (159.0±8.6 Ω•cm2). Compared with the control group, the activity of RhoA started to increase 5 minutes after LPS treatment, and the expression of p115RhoGEF protein started to increase 1 hr after LPS treatment and the cellular protein levels of ZO-1, occludin and claudin-5 decreased significantly 3 hrs after LPS treatment in the LPS group (P<0.05).

CONCLUSIONSLPS may activate the p115RhoGEF/RhoA pathway and decrease protein expression of ZO-1, occludin and claudin-5, resulting in an increased permeability of rat BMECs.

Animals ; Brain ; blood supply ; Capillary Permeability ; drug effects ; Electric Impedance ; Endothelial Cells ; drug effects ; metabolism ; Guanine Nucleotide Exchange Factors ; analysis ; Lipopolysaccharides ; pharmacology ; Rats ; Rats, Sprague-Dawley ; Rho Guanine Nucleotide Exchange Factors ; Tight Junctions ; chemistry ; rhoA GTP-Binding Protein ; analysis

BACKGROUND AND OBJECTIVEMonitoring the therapeutic effects of radiotherapy for nasopharyngeal carcinoma (NPC) is critical to providing individualized treatment. This in-vivo study was initially designed to evaluate the therapeutic effect of radiotherapy using 18F-fluorodeoxyglucose positron emission tomography with computed tomography (18F-FDG PET-CT) imaging.

METHODS18F-FDG PET-CT imaging was performed on all of the 10 nude mice bearing NPC xenografts before radiotherapy, and early-phase and delayed-phase PET-CT images were performed on 7 of the 10 mice. All mice were randomly divided into either a control group or a radiotherapy group. The 5 mice in the control group were immediately killed after the imaging and pathology were performed. After receiving radiotherapy of 12 Gy, 5 animals in the radiotherapy group were given 18F-FDG PET-CT imaging on days 2, 4, and 6, and then were killed for pathologic evaluation. Regions of interest (ROI) technology was used to measure the tumor target/non-target (T/NT) ratio and the volume of the tumors.

RESULTSThe average T/NT ratios of early- and delayed-phase imaging were 1.806 +/- 0.532 and 1.777 +/- 0.597, respectively, with no significance (P > 0.05). For the radiotherapy group, the average T/NT ratios for 18F-FDG PET-CT before radiotherapy, and on days 2, 4, and 6 after radiotherapy, were 1.735 +/- 0.466, 1.818 +/- 0.396, 1.096 +/- 0.101, and 0.604 +/- 0.108, respectively, The tumor volumes were (1.48 +/- 0.27) cm3, (1.57 +/- 0.31) cm3, (1.59 +/- 0.31) cm3 and (1.60 +/- 0.29) cm3, respectively. The average T/NT ratios of day 6 after radiotherapy and the other time points were significant (P < 0.05). The average death ratio of the tumor cells was (93.00 +/- 7.42)% after 6 days of post-radiotherapy.

CONCLUSIONS18F-FDG PET-CT imaging can be used for the early assessment of radiotherapeutic effect of NPC in vivo. Day 6 after radiotherapy may be an appropriate time point for the imaging. However, the T/NT ratio measurement of delayed-phase imaging might make no sense for the diagnosis of NPC.

Animals ; Carcinoma, Squamous Cell ; diagnostic imaging ; pathology ; radiotherapy ; Cell Line, Tumor ; Fluorodeoxyglucose F18 ; Humans ; Ki-67 Antigen ; metabolism ; Male ; Mice ; Mice, Inbred BALB C ; Mice, Nude ; Multimodal Imaging ; methods ; Nasopharyngeal Neoplasms ; diagnostic imaging ; pathology ; radiotherapy ; Neoplasm Transplantation ; Positron-Emission Tomography ; Random Allocation ; Tomography, X-Ray Computed ; Tumor Burden ; radiation effects

OBJECTIVEProgressive pseudorheumatoid dysplasia (PPD) (MIM#208230) is a rare autosomal recessive disease of cartilage homeostasis characterized by axial and peripheral skeletal dysplasia. Analysis of WISP3 (Wnt1-inducible signaling pathway protein 3, MIM#603400) gene mutation can confirm the clinical and radiographic diagnosis for PPD. This study aimed to recognize PPD based on clinical manifestations and imaging characteristics of bones, and to investigate the mutations of WISP3 gene in three patients with PPD.

METHODThree male patients (9 - 16 years old) from three unrelated Chinese families, who presented with joint pain, swelling, deformities and motion limitation, were referred to this study. PPD was diagnosed on the basis of the clinical manifestations, imaging characteristics of bones and laboratory evaluation. All five exons and their exon/intron boundaries of the WISP3 gene were amplified by polymerase chain reaction (PCR) from the peripheral blood DNA of three PPD family members, and mutation analysis was performed by bidirectional DNA sequencing.

RESULT(1) Three patients were diagnosed as PPD by characteristic evidences: all patients presented with non-inflammatory multiple joints swelling and stiffness including joints in hand and feet as they age. Radiographs showed platyspondyly, ovoid or wedged anterior end-plate of vertebral bodies, coxa vara, widened epiphyses or metaphyses including capital femoral, metacarpophalangeal, interphalangeal joints and metatarsals. Normal laboratory values were found for the erythrocyte sedimentation rate and C-reactive protein, rheumatoid factors, antinuclear antibodies etc. (2) The three different mutations of WISP3 gene were identified in three patients with PPD, including two small insert mutations (c.624_625insA, c.866_867insA), one was deletion mutation (c.729_735delGAGAAAA). The types of mutation of two alleles in three patients were c.624_625insA/c.729_735delGAGAAAA, c.624_625insA/c.866_867insA and c.866_867 insA/c.866_867insA, respectively. These mutations were found in exon 4 and exon 5 of WISP3 gene, accounting for 50%(3/6) respectively. All three different mutations were novel variations, and none of 3 novel variations was found in the 50 controls.

CONCLUSIONThe characteristic evidences of PPD were non-inflammatory multiple enlarged joints (including hand and feet), limited movement, normal laboratory values such as rheumatoid factors. It is essential for making diagnosis to carefully examine the entire skeleton including spine. The characteristics of bone imaging are platyspondyly, widened epiphyses or metaphyses including large and small joints and narrow joint spaces. Three different novel variations of WISP3 gene were identified in three PPD patients, they are c.624_625insA, c.866_867insA and c.729_735delGAGAAAA. Each of novel mutations is insert or deletion mutation.

Adolescent ; Arthropathy, Neurogenic ; diagnosis ; genetics ; CCN Intercellular Signaling Proteins ; Child ; Humans ; INDEL Mutation ; Insulin-Like Growth Factor Binding Proteins ; genetics ; Joint Diseases ; congenital ; Male ; Molecular Sequence Data

OBJECTIVETo report the clinical diagnosis, treatment and follow-up of children with holocarboxylase synthetas(HCS) deficiency and explore the gene mutation spectrum of the disease.

METHODSEleven children with HCS deficiency were enrolled. Mass spectrometry analysis and biotinidase activity determination were used for diagnosis of HCS deficiency. HCS gene mutations were analyzed by PCR directed sequencing methods. Ten patients received oral biotin treatment (10-40 mg/d). Clinical effects of biotin treatment were observed.

RESULTSAll 11 cases developed apathetic, lethargy and metabolic acidosis at different degrees, and 10 cases presented with skin lesions. The average blood 3-hydroxyisovaleryl-carnitine concentrations and urinary 3-methylcrontonylglycine and methylcitrate concentrations increased significantly. The biotinidase activity increased, being higher over 30% of the normal reference value. Four mutations in HCS gene were identified, and they were c.1522C>T (R508W), c.1088T>A (V363D), c.126G>T (E42D) and c.1994G>C (R665P) (a new variant) and the frequency was 50%, 29%, 7% and 14% respectively. The symptoms disappeared in 10 cases 1-2 weeks after biotin treatment, and blood and urinary abnormal metabolites were gradually reduced to normal 2-6 months after treatment.

CONCLUSIONSHCS deficiency is characterized by nervous system damage, skin lesions and metabolic acidosis. Mass spectrometry analysis, biotinidase activity determination and gene mutation analysis may be helpful in the definite diagnosis of this disorder. The effect of early biotin treatment is satisfactory. The mutations R508W and V363D might be hot-spots in Chinese children with HCS deficiency.

Biotin ; therapeutic use ; Biotinidase ; metabolism ; Carbon-Nitrogen Ligases ; genetics ; Child, Preschool ; Female ; Holocarboxylase Synthetase Deficiency ; diagnosis ; therapy ; Humans ; Infant ; Infant, Newborn ; Male ; Mutation