The new general photography system is composed of overhang of SX-YB2 departed from the mainframe of HITACHI Digital Fluoroscpic(model 110XF),topmanagement system of FSK302-1 and FSB302-1 and leveled adiogaphy system of F78-III.The filament heater circuit,rotating anode startup and running circui and X-ray produce circuit are mainly changed,and some circuits in power and filament heat are added.

Objective To study the value of diffusion tensor imaging(DTI) in early assessment of prognosis of hypoxic-ischemicencephalopathy(HIE) in new infants. Methods 96 cases of full term infants with HIE underwent DTI examinations at 0～12 days and 6～36 months. Based on clinical diagnostic criteria, 96 cases were divided into three groups: mild, moderate and severe HIE groups. Fractional anisotropy(FA) values in the corpus callosum splenium and the posterior limb of internal capsules were measured. Results (1) Varying degrees of FA groups was significantly different from the same site, increased linearly with time,but the magni-tude of change was different;(2)When FA value of corpus callosum splenium in the cut-off point was ≥0.437,the sensitivity(SE) was 83.8% , the specificity(SP) was 18.6% , ROC area under the curve was 0.903 , 95% confidence interval was from 0.846 to 0.961,standard error was 0.029;when FA value of posterior limb of internal capsule in the cut-off point ≥0.391,SE was 86.5%, SP was 11.9% ,ROC area under the curve was 0.940,95% confidence interval was from 0.898 to 0.984,standard error was 0.022. Conclusion MR DTI examination is of significant value in evaluating early the prognosis of HIE in infants.

Objective To retrospectively investigate the incidence of accidental awareness during general anesthesia in selective operation and analyze the influence factors of accidental aware-ness.Methods Patients scheduled for elective surgery requiring general anesthesia with artificial air-way during April 2013-July 2015 were collected.The incidence was obtained from postoperative fol-low-ups.Perioperative data and anesthetic drugs were collected to analyze influence factors. Results A total of 141 294 patients were enrolled.Eighty patients (0.06%)were definitely identified as awareness.Multiple regression analysis showed that awareness during operation was associated with total intravenous anesthesia (OR=5.181,95% CI 3.032-8.853),using laryngeal mask airway (OR=2.478,95% CI 1.544-3.977)and ASA Ⅲ or Ⅳ (OR=9.202,95% CI 5.475-15.466).Pre-medication of midazolam (OR=0.125,95% CI 0.080-0.196)and combination of sevoflurane (OR=0.193,95% CI 0.113-0.330)had lower incidence of awareness during operation.Conclusion Total intravenous anesthesia,using laryngeal mask airway and ASA Ⅲ or Ⅳ are risk factors of accidental awareness during general anesthesia.Premedication of midazolam and combination of sevoflurane may prevent awareness during operation.

[ ABSTRACT ] AIM: To characterize the phenotypic and genetic features of a patient with Lowe syndrome. METHODS:The clinical data and the MRI of a ten-month-old patient were analyzed.At the same time, all exons of the OCRL gene of the patient and his parents were amplified and Sanger-sequenced.RESULTS:Clinical analysis revealed that the patient has abnormal vision, nystagmus, congenital cataract, hypotonia, proteinuria, hematuria and psychomotor retar-dation.MRI showed white matter myelination delay, bilateral frontal and temporal dysplasia, and subarachnoid cavity en-largement.The results of PCR and Sanger sequencing detected a de novo mutation, NM_000276.3: c.1280-1281delTT (p.Cys428Hisfs*2), a deletion causing a frame shift.To our knowledge, this mutation in OCRL gene has not been repor-ted previously.CONCLUSION:The clinical manifestations suggested a phenotype of Lowe syndrome, and molecular ge-netic testing confirmed the diagnosis.The novel de novo mutation enriches the OCRL mutation spectrum.

BACKGROUND/OBJECTIVES: 4-Hydroxy-2-nonenal (HNE) is a biomarker for oxidative stress to induce inflammation. Methionine is an essential sulfur-containing amino acid with antioxidative activity. On the other hand, the evidence on whether and how methionine can depress HNE-derived inflammation is lacking. In particular, the link between the regulation of the nuclear factor-κB (NF-κB) signaling pathway and methionine intake is unclear.This study examined the link between depression from HNE accumulation and the antiinflammatory function of L-methionine in rats.MATERIALS/METHODS: Male Wistar rats (3-week-old, weighing 70–80 g) were administered different levels of L-methionine orally at 215.0, 268.8, 322.5, and 430.0 mg/kg body weight for two weeks. The control group was fed commercial pellets. The hepatic HNE contents and the protein expression and mRNA levels of the inflammatory mediators were measured. The interleukin-10 (IL-10) and glutathione S-transferase (GST) levels were also estimated. RESULTS: Compared to the control group, hepatic HNE levels were reduced significantly in all groups fed L-methionine, which were attributed to the stimulation of GST by L-methionine. With decreasing HNE levels, L-methionine inhibited the activation of NF-κB by up-regulating inhibitory κBα and depressing phosphoinositide 3 kinase/protein kinase B. The mRNA levels of the inflammatory mediators (cyclooxygenase-2, interleukin-1β, interleukin-6, inducible nitric oxide synthase, tumor necrotic factor alpha) were decreased significantly by L-methionine. In contrast, the protein expression of these inflammatory mediators was effectively down regulated by L-methionine. The anti-inflammatory action of L-methionine was also reflected by the up-regulation of IL-10. CONCLUSIONS This study revealed a link between the inhibition of HNE accumulation and the depression of inflammation in growing rats, which was attributed to L-methionine availability. The anti-inflammatory mechanism exerted by L-methionine was to inhibit NF-κB activation and to up-regulate GST.

Objective:To summarize the clinical features, laboratory examination and genetic analysis of a patient with mucopolysaccharidosis type Ⅱ (MPS Ⅱ).Methods:Clinical manifestations, results of urine glycosaminoglycans (GAGs) and dermatan sulfate assay, metabolites related to MPS in peripheral blood leukocytes were analyzed. Meanwhile, the child and his mother were subjected to next-generation sequencing and Sanger sequencing.Results:The boy has presented with global development delay, coarse facies, frequent upper-respiratory infections, hearing loss, indirect inguinal hernia, hepatosplenomegaly, and skeletal deformities. His urine GAGs were significantly elevated, and the urinary dermatan sulfate (DS) was positive. Meanwhile, the activity of idose-2-sulfatase was extremely reduced. The patient was found to harbor a hemizygote c. 676C>G (p.His226Asp) missense variant in exon 5 of IDS gene, for which his mother was heterozygous. Conclusion:The novel c. 676C>G variant of the IDS gene probably underlay the MPS Ⅱ in this child. Genetic testing combined with enzymatic analysis can enable effective diagnosis and classification of MPS.

Objective:To analyze the efficacy of the new forest parenting programme (NFPP) for children and families with attention deficit hyperactivity disorder (ADHD) in China, and to explore the feasibility and effectiveness of the programme in China.Methods:Twenty-two children with ADHD diagnosed at the Child Psychology Development and Behavior Outpatient Clinic of the First Affiliated Hospital of Jinan University and their primary caregivers were included in the study from January 2022 to May 2023. The children with ADHD were divided into an experimental group ( n=11) and a control group ( n=11) according to the personal preference of the primary caregivers. The experimental group was provided with the NFPP intervention once a week for a period of 8 weeks. The Chinese version of Swanson Nolan and Pelham, version Ⅳ scale-parent form(SNAP-Ⅳ)and Weiss functional impairment rating scales-parent report(WFIRS-P))were used to assess the improvement of core symptoms and social function impairment in the two groups before and after the intervention. In the experimental group, the Chinese parenting sense of competence scale (C-PSOC) and the parenting styles and dimensions questionnaire (PSDQ) were used to evaluate the parenting efficiency and improvement of parenting styles of primary caregivers in ADHD families before and after NFPP intervention. A Semi-open interview was conducted with 11 primary caregivers of ADHD children in the experimental group at the end of the intervention regarding knowledge of ADHD disease diagnosis and treatment, parenting attitudes, and parenting behaviors. The data was statistically analyzed by SPSS 26.0 software.Statistical analysis of data was used by independent sample t-test, paired sample t-test, Mann Whitney U-test, and rank sum test. Results:(1) Compared with the post-intervention control group, the total score((4.01±1.05), (2.79±0.94), t=2.875, P<0.05) in the SNAP-Ⅳ, the scores of the oppositional defiance dimension((1.27±0.34), (0.70±0.33), t=4.043, P<0.05) in the SNAP-Ⅳ, the scores of the family in WFIRS-P ((0.92±0.47), (0.56±0.26), t=2.246, P<0.05), and the scores of life skills in WFIRS-P (1.1(0.9, 1.3), (0.6(0.5, 0.8), Z=-2.013, P<0.05)were significantly lower in the post-intervention experimental group ( P<0.05). After intervention, the scores of the 3 dimensions of attention deficit, impulsivity/hyperactivity, and oppositional defiance and the total score of the SNAP-Ⅳ in the experimental group were significantly lower than those before intervention (all P<0.05). (2) After intervention, the score of the parenting efficacy dimension in the C-PSOC in experimental group was significantly higher than pre-intervention ( P<0.05). After intervention, the scores of the PSDQ for authoritative parenting style in the self-assessment and other-assessment in the experimental group were significantly higher than pre-intervention (all P<0.05), and the scores of the authoritarian parenting style and the permissive parenting style were significantly lower than pre-intervention (all P<0.05). (3) The results of the semi-open interview suggested that, the primary caregivers of children with ADHD in the experimental group had a positive attitude toward the NFPP intervention and were able to participate in the entire 8-week intervention, and apply the learned parenting skills to daily life to continuously improve parenting efficiency. After the NFPP intervention, the primary caregivers of children with ADHD had a deeper understanding of the knowledge of ADHD diseases, behavioral characteristics of children with ADHD, and so on. In the intervention content, the modules such as time management, communication skills and behavioral prediction were easy to grasp and effective. Conclusion:The NFPP can significantly improve the core symptoms of Chinese children with ADHD, increase the parenting efficacy of their primary caregivers, and improve their parenting styles.

Objective:To systematically review the disease treatment and management experience of parents of children with attention deficit hyperactivity disorder (ADHD) .Methods:Qualitative or mixed studies on the treatment and management experience of parents of children with ADHD were searched in databases such as PubMed, Embase, Cochrane Library, Web of Science, PsycINFO, Scopus, CINAHL, ProQuest, China National Knowledge Infrastructure, WanFang Data, and VIP. The search period was from database establishment to October 8, 2022. The quality of the included literature was evaluated using the quality evaluation criteria for qualitative research of the Joanna Briggs Institute Evidence-Based Health Care Center. Nvivo 11 software was used to integrate the results through aggregation integration methods.Results:A total of 13 articles were included and 36 research results were extracted.The results were categorized into 10 new categories and formed into 4 integrated results, including the impact of disease cognition of parents of children with ADHD on medical seeking behavior, psychological adjustment of parents of children during treatment, disease response of parents of children, and social resource needs for treatment and management of children.Conclusions:The role and responsibility of parents in the treatment and management of ADHD children are very important. We need to strengthen the popularization of knowledge about ADHD, enhance parents' awareness of the disease, pay attention to parents' psychological status, provide multi-channel social support, meet the treatment and educational needs of children, and promote the construction of an individualized and multidisciplinary comprehensive management system to improve the short-term and long-term outcomes of ADHD children.

OBJECTIVETo screen for mutations of NTRK1 gene in a Chinese family affected with congenital insensitivity to pain with anhidrosis (CIPA).

METHODSGenomic DNA was extracted from the proband and her family members. All of the 17 exons and intron-exon boundaries of the NTRK1 gene were analyzed by direct Sanger sequencing. For the deletional mutation, the PCR products were subjected to T-A cloning and sequencing to verify the mutation.

RESULTSNTRK1 gene analysis revealed that proband has carried a c.1786C>T (p.Arg596*) nonsense mutation inherited from her mother and a novel deletional mutation c.1928-2028+23del from her father. Her elder brother only carried the deletional mutation.

CONCLUSIONThe diagnosis of CIPA relied on typical clinical symptoms of no pain, anhidrosis and intellectual disability and detection of the biallelic NTRK1 mutations. The novel deletional mutation has enriched the spectrum of NTRK1 mutations.

Child, Preschool ; DNA Mutational Analysis ; Exons ; Female ; Hereditary Sensory and Autonomic Neuropathies ; diagnosis ; genetics ; Humans ; Mutation ; Receptor, trkA ; genetics