A case of combined oxidative phosphorylation deficiency 32 caused by MRPS34 gene variation and literature review / 中华儿科杂志

Objective: To investigate the clinical features and genetic features of combined oxidative phosphorylation deficiency 32 (COXPD32) caused by MRPS34 gene variation. Methods: The clinical data and genetic test of a child with COXPD32 hospitalized in the Department of Neurology, Children's Hospital, Capital Institute of Pediatrics in March 2021 were extracted and analyzed. A literature search was implemented using Wanfang, China biology medicine disc, China national knowledge infrastructure, ClinVar, human gene mutation database (HGMD) and Pubmed databases with the key words "MRPS34" "MRPS34 gene" and "combined oxidative phosphorylation deficiency 32" (up to February 2023). Clinical and genetic features of COXPD32 were summarized. Results: A boy aged 1 year and 9 months was admitted due to developmental delay. He showed mental and motor retardation, and was below the 3rd percentile for height, weight, and head circumference of children of the same age and gender. He had poor eye contact, esotropia, flat nasal bridge, limbs hypotonia, holding instability and tremors. In addition, Grade Ⅲ/6 systolic murmur were heard at left sternal border. Arterial blood gases suggested that severe metabolic acidosis with lactic acidosis. Brain magnetic resonance imaging (MRI) showed multiple symmetrical abnormal signals in the bilateral thalamus, midbrain, pons and medulla oblongata. Echocardiography showed atrial septal defect. Genetic testing identified the patient as a compound heterozygous variation of MRPS34 gene, c.580C>T (p.Gln194Ter) and c.94C>T (p.Gln32Ter), with c.580C>T being the first report and a diagnosis of COXPD32. His parents carried a heterozygous variant, respectively. The child improved after treatment with energy support, acidosis correction, and "cocktail" therapy (vitaminB1, vitaminB2, vitaminB6, vitaminC and coenzyme Q10). A total of 8 cases with COXPD32 were collected through 2 English literature reviews and this study. Among the 8 patients, 7 cases had onset during infancy and 1 was unknown, all had developmental delay or regression, 7 cases had feeding difficulty or dysphagia, followed by dystonia, lactic acidosis, ocular symptoms, microcephaly, constipation and dysmorphic facies(mild coarsening of facial features, small forehead, anterior hairline extending onto forehead,high and narrow palate, thick gums, short columella, and synophrys), 2 cases died of respiratory and circulatory failure, and 6 were still alive at the time of reporting, with an age range of 2 to 34 years. Blood and (or) cerebrospinal fluid lactate were elevated in all 8 patients. MRI in 7 cases manifested symmetrical abnormal signals in the brainstem, thalamus, and (or) basal ganglia. Urine organic acid test were all normal but 1 patient had alanine elevation. Five patients underwent respiratory chain enzyme activity testing, and all had varying degrees of enzyme activity reduction. Six variants were identified, 6 patients were homozygous variants, with c.322-10G>A was present in 4 patients from 2 families and 2 compound heterozygous variants. Conclusions: The clinical phenotype of COXPD32 is highly heterogenous and the severity of the disease varies from development delay, feeding difficulty, dystonia, high lactic acid, ocular symptoms and reduced mitochondrial respiratory chain enzyme activity in mild cases, which may survive into adulthood, to rapid death due to respiratory and circulatory failure in severe cases. COXPD32 needs to be considered in cases of unexplained acidosis, hyperlactatemia, feeding difficulties, development delay or regression, ocular symptoms, respiratory and circulatory failure, and symmetrical abnormal signals in the brainstem, thalamus, and (or) basal ganglia, and genetic testing can clarify the diagnosis.

Effect of experiential health education on diet control of college students with type 2 pre diabetes mellitus / 中国学校卫生

Objective@#To understand the influence of experiential health education on diet control of college students with pre diabetes mellitus, and to provide reference for healthy eating habits promotion among college students.@*Methods@#According to the method of random number table, 78 pre diabetic college students screened from Changzhi Medical College from September 2020 to June 2021 were randomly assigned to observation group and control group (39 students in each group). The control group received routine health education for 10 months, once a week for 1 hour each time; On the basis of the above, the observation group received experiential health education once a week for 1 hour, including diet experience, exercise experience, blood sugar test experience and chronic complications experience. Blood glucose and lipids level, body mass index (BMI), dietary control as well as the stages of change for dietary control behavior were compared between the two groups.@*Results@#There was significant difference between the observation group and the control group in the stages of change for dietary control behavior 10 months after intervention ( χ 2=8.92, P <0.05). The compliance score of the observation group was significantly higher than that of the control group in the same period 10 months after the intervention ( t =3.74, P <0.01), the score of the knowledge of diet control in the observation group 10 months after intervention was significantly higher than that in the control group ( t =11.51, P <0.05). The levels of BMI, TG and TC in the observation group were significantly lower than those in the control group at 5 and 10 months after intervention, and the differences were statistically significant ( P <0.05).@*Conclusion@#Experiential health education helps to promote awareness of diabete related knowledge, enhance self management behavior and good diet control habits, and is effective for blood glucose control.

Voluntary wheel running exercise regulates microglia polarization in hippocampus through STAT3 signal pathway to inhibit depression-like behavior induced by chronic stress in rats / 生理学报

This paper was aimed to investigate the effect of voluntary wheel running exercise on depression-like behavior induced by chronic water immersion restraint stress (CWIRS) and the underlying mechanism. Sprague-Dawley (SD) rats received CWIRS to induce depression-like behavior and 4-week voluntary wheel running exercise. Meanwhile, the rats were treated with lipopolysaccharide (LPS) or STAT3 over-expression vector (pcDNA-STAT3) by intracerebroventricular injection. Behavioral tests were used to detect depression-like behavior. ELISA assay was used to detect levels of various inflammatory factors in the rat hippocampus. Western blot was used to detect protein expression levels of ionized calcium binding adaptor molecule 1 (Iba1), inducible nitric oxide synthase (iNOS), arginase 1 (Arg1), phosphorylated STAT3 (p-STAT3) and total STAT3 (t-STAT3). The results showed that, compared with stress group, stress + exercise group exhibited improved depression-like behavior, decreased interleukin-1β (IL-1β) and IL-6 levels, increased IL-4 and IL-10 levels, down-regulated Iba-1 and iNOS protein expression levels, up-regulated Arg1 protein expression level, and decreased p-STAT3/t-STAT3 ratio in hippocampal tissue. LPS reversed the improving effect of voluntary wheel running exercise on depression-like behavior in rats, and the over-expression of STAT3 reversed the promoting effects of voluntary wheel running on M2 polarization of microglial cells in rat hippocampus and depression-like behavior. These results suggest that voluntary wheel running ameliorates the depression-like behavior induced by CWIRS in rats, and the mechanism may be related to regulating hippocampal microglia polarization via STAT3 signaling pathway.

Assurance of precision radiotherapy quality control: The advances in position/dose monitoring technologies / 西安交通大学学报(医学版)

How to realize the real-time monitoring of the position and dose of the superficial tumor target area in the process of radiotherapy and ensure the target area to receive sufficient radiation dose, so as to improve the local control rate of patients is both the key problem to be solved urgently in radiotherapy and an important way for the accurate and safe implementation of quality control and quality assurance. The ideal radiotherapy monitoring technology should have the advantages of being non-radiation and non-invasive, and three-dimensional dynamic real-time imaging. This paper will briefly review the existing location and dose monitoring technologies in the process of precise radiotherapy.

Effect of Modified Shaoyao Gancaotang， Electroacupuncture and Acupuncture Combined with Herb on γ-Aminobutyric Acid Related Receptor Proteins in Cortex in SCA Rats / 中国实验方剂学杂志

Object:To analyze the effect of muscular tension injury in spasticity of cerebral apoplexy(SCA) rats with spasticity and the expression of γ-aminobutyric acid receptor (GABAα), γ-aminobutyric acid transporter (GAT-1) protein and mRNA expression in cerebral cortex modified Shaoyao Gancaotang, electroacupuncture Quchi, Yanglingquan and acupuncture combined with herb therapies alleviate the effect of SCA. Method:Randomly divided into two groups, divided into blank group, sham operation group, model group, modified Shaoyao Gancaotang group, acupuncture combined with herb group, electroacupuncture group, selected qualified SD rats into the group, 9 rats in each group. The modified Zea-Longa thread embolism method+internal capsule injection of NMDA receptor method was used to prepare a rat model. After the behavioral score confirms the success of the model,dispose of each group separately,electroacupuncture group (electroacupuncture on both sides of Yangling Spring and Quchi,1 time/d for 5 days), modified Shaoyao Gancaotang group (with Shaoyao Gancaotang 1 time/d,10 mL·kg-1 for 5 days),acupuncture combined with herb (modified Shaoyao Gancaotang was given, then electroacupuncture treatment was continued for 5 days). After treatment, the muscle tension was detected by behavioral analysis. Real-time fluorescent quantitative PCR（Real-time PCR） and Western blot were used to detect the expression of GABAα and GAT-1 related mRNA and protein in the cortex. Result:Compared with normal group, the muscle tension of the model group increased (P<0.01), the expression of GABAα mRNA and protein decreased (P<0.01), and the expression of GAT-1 mRNA and protein increased (P<0.01), compared with model group, the muscle tone score of the each treatment group decreased (P<0.05), the expression of GABAα mRNA and protein increased (P<0.05，P<0.01), and the expression of GAT-1 mRNA and protein decreased (P<0.05，P<0.01), of which the corresponding expression in the acupuncture combined with herb group was the most significant. Conclusion:Electroacupuncture Quchi, Yanglingquan,modified Shaoyao Gancaotang and acupuncture combined with three therapies can alleviate the muscle tension of limbs spasm of stroke,and the combination of acupuncture and medicine treatment on the cortical γ-aminobutyric acid receptor the highest expression efficiency suggests that it has the best effect on improving the excitatory spasticity of stroke limbs.

Dynamic variation trend and prognostic value of bronchial wall thickness in severely burned patients combined with inhalation injury / 中华烧伤杂志

Objective@#To explore the dynamic variation trend of bronchial wall thickness (BWT) in severely burned patients combined with inhalation injury, and to determine the value of BWT to prognosis of patients.@*Methods@#Forty-three severely burned patients with inhalation injury hospitalized in Intensive Burn Department of the Affiliated Hospital of Nankai University (Tianjin No.4 Hospital) from July to November 2016, conforming to the study criteria, were divided into survival group (n=27) and death group (n=16) according to the prognosis of patients within 14 days after admission. All patients underwent fiberoptic bronchoscopy and inhalation injury rating based on abbreviated injury scale at admission. High resolution CT examination was performed in patients of two groups at admission and 24 h post admission, 3, 7, and 14 d post admission to measure the BWT of right superior lobar bronchus trunk opening. Receiver operating characteristic curves of rating of inhalation damage at admission and BWT at admission were drawn to evaluate the predictive value for death of 43 patients. Data were processed with chi-square test, independent sample t test, Wilcoxon rank sum test, analysis of variance for repeated measurement and least-significant difference-t test.@*Results@#(1) The numbers of patients rated as 0, 1, 2, 3, and 4 grade for inhalation injury in survival group and death group were 0, 19, 6, 2, and 0, and 0, 2, 7, 7, and 0, respectively. There were statistically significant differences between the two groups (Z=-3.79, P<0.01). (2) BWT of patients in death group at admission and 24 h post admission, 3, 7, and 14 d post admission was respectively (2.72±0.26), (3.18±0.22), (2.98±0.18), (2.29±0.17), and (1.45±0.21) mm, which was significantly larger than (2.24±0.15), (2.49±0.15), (1.51±0.17), (1.04±0.16), and (1.01±0.13) mm in survival group (t=7.55, 12.14, 27.11, 19.99, 7.11, P<0.01). BWT of patients in survival group and death group at 24 h post admission, 3, 7, and 14 d post admission showed statistically significant difference when compared with that at admission within the corresponding group (t=5.97, 16.63, 28.21, 38.57, 5.34, 3.31, 4.39, 6.48, P<0.01). BWT of patients in survival group and death group on 3, 7, and 14 d post admission was significantly smaller than that at 24 h post admission within the corresponding group (t=22.27, 34.02, 45.03, 2.77, 10.53, 10.59, P<0.01). BWT of patients in survival group and death group on 7 and 14 d post admission was significantly smaller than that on 3 d post admission within the corresponding group (t=10.49, 18.26, 9.57, 11.44, P<0.01). BWT of patients in survival group and death group on 14 d post admission was significantly smaller than that on 7 d post admission within the corresponding group (t=6.97, 6.15, P<0.01). (3) The total areas under ROC curves of inhalation injury rating at admission and BWT at admission for predicting death of 43 patients were 0.880 and 0.956, respectively (with 95% confidence intervals 0.768-0.991, 0.882-1.000, P<0.05). Grade 1.5 and 2.75 mm were respectively chosen as the optimal threshold values of inhalation injury rating at admission and BWT at admission, with sensitivity of 87.50%, 83.33% and specificity of 77.78%, 96.00%, respectively.@*Conclusions@#The BWT of survived and dead patients with severe burn and inhalation injury increases significantly post burn, while the BWT of survived patients restores to normal level faster. BWT can be used to assess the severity of inhalation injury and to predict death in severely burned patients combined with inhalation injury.

A comparative analysis of anti-N-methyl-D-aspartate receptor encephalitis with or without abnormal findings on cranial magnetic resonance imaging / 中国当代儿科杂志

<p><b>OBJECTIVE</b>To investigate the clinical features of children with anti-N-methyl-D-aspartate receptor (anti-NMDAR) encephalitis with normal or abnormal cranial magnetic resonance imaging (MRI) findings via a comparative analysis.</p><p><b>METHODS</b>A retrospective analysis was performed for the clinical data of 33 children with anti-NMDAR encephalitis. The clinical features and prognosis were compared between the children with normal and abnormal cranial MRI findings.</p><p><b>RESULTS</b>In the 33 children with anti-NMDAR encephalitis, the most common initial symptoms were seizures (61%) and involuntary movement (61%), followed by language disorder (54%), mental and behavioral abnormalities (52%), and disturbance of consciousness (30%). All children had positive anti-NMDAR antibody in the cerebrospinal fluid, and 29 children (88%) had positive serum antibody. Of all the children, 15 (46%) had increased leukocytes in the cerebrospinal fluid, 3 (9%) had an increase in protein, and 29 (88%) had positive oligoclonal band; 26 children (79%) had electroencephalographic abnormalities (epileptic wave, slow wave, or a combination of these two types of waves). One child experienced respiratory failure. One child was found to have germinoma in the sellar region during follow-up. Of all the 33 children, 13 (39%) had abnormal cranial MRI findings, with hypointensity or isointensity on T1W1 and hyperintensity on T2WI and T2-FLAIR; 2 children had dural enhancement. As for the location of lesion, 5 children (38%) had lesions in the temporal lobe, 3 (23%) in the frontal lobe, 3 (23%) in the basal ganglia, 2 (15%) in the parietal lobe, 2 (15%) in the occipital lobe, 2 (15%) in the brainstem, 1 (8%) in the thalamus, and 1 (8%) in the cerebellum. Among the 13 children with abnormal cranial MRI findings, 5 (38%) had lesions mainly in the grey matter and 8 (62%) had lesions mainly in the white matter. Compared with the children with normal cranial MRI findings, the children with abnormal cranial MRI findings had significantly higher proportion of children with prodromal infection, incidence rate of disturbance of consciousness, probability of recurrence, Glasgow score, incidence rate of increased leukocytes in the cerebrospinal fluid, and application rate of second-line treatment (P<0.05).</p><p><b>CONCLUSIONS</b>Children with anti-NMDAR encephalitis and abnormal cranial MRI findings have certain clinical features, which may provide guidance for the evaluation of disease conditions and the selection of diagnostic and treatment measures.</p>

Inhibitory effect of propylene glycol mannate sulfate on growth of rabbit lens epithelial cells in vitro / 国际眼科杂志(Guoji Yanke Zazhi)

AIM:To investigate the inhibitory effect of rabbit lens epithelial cell(RLEC)survival and growth by propylene glycol mannate sulfate(PGMS)on the rabbit capsular bag in vitro.METHODS;Capsular bags were prepared from rabbit eyes after extracapsular cataract extraction(ECCE)and incubated in 0.2,0.4,0.8g/L PGMS in 2,5,10 minutes incubation periods.After treatment,the capsular bags were cultured for 7 days in Dulbecco minimum essential medium(DMEM)supplemented with 50mL/L fetal calf serum(FCS).The specimens were examined with light microscopy and transmission electron microscopy(TEM).Capsular bags without receiving PGMS only served as controls.RESULTS:PGMS inhibited the proliferation of RLEC in the manner of concentration and time dependentment.At the threshold protocol of incubation in PGMS at 0.8g/L for 5 or 10 minutes,proliferative activity of cells were largely arrested and nearly no RLEC was seen on the posterior capsule(P＜0.05).Control group had no effect on structure and proliferative activity of RLEC,and the growth proceeded rapidly so that the posterior capsule were totally covered by a confluent monolayer of cell by the end of 7 days.Under TEM,the cells in the control group were tightly arrayed with clearly defined cellular boundary and structure;while cellular deformity and undefined intracellular structure could be seen in the 0.4g/L and 0.8g/L experimental groups.CONCLUSION:PGMS can effectively inhibit the proliferation of RLEC.