A case of mitochondrial and peroxisome fission deficiency-related encephalopathy caused by DNM1L gene mutation / 中华神经科杂志

Mitochondrial and peroxisome fission deficiency-related encephalopathy caused by DNM1L gene mutation is a rare and fatal epileptic encephalopathy, with clinical phenotype and genetic heterogeneity. The acute stage is drug-resistant epilepsy with poor prognosis and serious neurological sequelae. A case of genetically confirmed encephalopathy related to mitochondrial and peroxisome fission defects is reported, the clinical data, treatment process are summarized, and the previous literature is reviewed to improve the understanding of the rare disease.

Relationship between plasma fluoride content, daily calcium intake and blood cell parameters in children and adolescents / 中华地方病学杂志

Objective:To investigate the relationship between plasma fluoride content, daily calcium intake and blood cell parameters in children and adolescents.Methods:This study was based on the National Health and Nutrition Examination Survey (NHANES) database of the United States from 2013 to 2016, with 3 684 children and adolescents aged 6 - 19 as the research subjects. Information on plasma fluoride content, daily calcium intake and blood cell parameters from the database were collected. Non-linear relationships between plasma fluoride content, daily calcium intake and blood cell parameters were analyzed using restricted cubic splines. If there was a non-linear relationship, the optimal inflection point was calculated using threshold/saturation effect analysis method. Subsequently, multiple linear regression models were used to analyze the associations among the three, and the modification effect of daily calcium intake (binary classification, stratified by median daily calcium intake) on the association between plasma fluoride content and blood cell parameters was analyzed.Results:There was no non-linear relationship between plasma fluoride content and white blood cell count, hemoglobin content and platelet count ( Pnon-linear > 0.05), but there was a non-linear relationship between plasma fluoride content and erythrocyte count and hematocrit ( Pnon-linear < 0.001). After adjusting for confounding factors, the optimal inflection points of the effects of plasma fluoride content on erythrocyte count and hematocrit were 0.54 and 0.31 μmol/L, respectively. There was no non-linear relationship between daily calcium intake and blood cell parameters ( Pnon-linear > 0.05). After adjusting for confounding factors, for every 1 μmol/L increase in plasma fluoride content, the white blood cell count increased by 0.49 × 10 9/L ( P = 0.009). There was a saturation effect in the association between plasma fluoride content, erythrocyte count and hematocrit: when plasma fluoride content was < 0.54 μmol/L, the erythrocyte count decreased by 0.46 × 10 12/L for every 1 μmol/L increase ( P < 0.001). When plasma fluoride content was < 0.31 μmol/L, the hematocrit decreased by 6.29% for every 1 μmol/L increase ( P = 0.006). The above associations were not statistically significant when plasma fluoride content was higher than the optimal inflection points ( P > 0.05). After stratification according to the median daily calcium intake, in the low-calcium group (daily calcium intake < 0.87 g), for every 1 μmol/L increase in plasma fluoride content, the white blood cell count increased by 0.77 × 10 9/L ( P = 0.001). When plasma fluoride content was < 0.54 μmol/L, the erythrocyte count decreased by 0.41 × 10 12/L for every 1 μmol/L increase ( P = 0.002). When plasma fluoride content was ≥0.54 μmol/L, erythrocyte count decreased by 0.47 × 10 12/L for every 1 μmol/L increase ( P < 0.001). When the plasma fluoride content was < 0.31 μmol/L, the hematocrit decreased by 8.29% for every 1 μmol/L increase ( P = 0.011). The above associations were not statistically significant in the high-calcium group (daily calcium intake ≥0.87 g, P > 0.05). There was an interaction of daily calcium intake and plasma fluoride content on platelet count ( Pinteraction = 0.070), as demonstrated by an increase in platelet count of 12.68 × 10 9/L ( P = 0.013) in the low-calcium group and a decrease in platelet count of 9.05 × 10 9/L ( P = 0.035) in the high-calcium group for every 1 μmol/L increase in plasma fluoride content. Conclusions:The blood cell parameters of children and adolescents are closely related to plasma fluoride content, but not directly related to daily calcium intake. However, the correlation between plasma fluoride content and blood cell parameters varies among different calcium intake populations, and daily calcium intake can modify the association between plasma fluoride content and platelet count.

Clinical and genetic analysis of two rare male patients with Rett syndrome / 中华医学遗传学杂志

OBJECTIVE@#To conduct clinical and genetic analysis of two male patients with atypical Rett syndrome.@*METHODS@#Collection of clinical data in the two patients and these parents; whole exome sequencing (WES) was used to detect the potential variants, which were verified by Sanger sequencing. X chromosome inactivation (XCI) detection is performed in the Patient 1's mother to detect the allelic expression difference of the MECP2 gene.@*RESULTS@#Patient 1, a 5-year and 10-month-old boy, had mental disorders and mild intellectual disability (ID) (IQ: 54), whose mother had ID. Patient 2 was a 9-month and 18-day-old male presented with recurrent infections, respiratory insufficiency, hypotonia and global developmental delay. WES indentified a hemizygous mutation, c.499C>T (p.R167W), in the MECP2 gene in patient 1, which was inherited from his mother. The inactivation of X chromosome is skewed, and the expression ratio of wild-type and mutant MECP2 is 100%:0. Patient 2 was found a de novo splicing mutation, c.62+2_62+3del in the MECP2 gene. They were both reported pathogenic variant related to Rett syndrome. c.499C>T (p.R167W) was defined as likely pathogenic (PS1+PM2+PP3) and c.62+2_62+3del was pathogenic (PVS1+PM2+PM6) based on American College of Medical Genetics and Genomics standards and guidelines.@*CONCLUSION@#Both the two patients were diagnosed with rare male Rett syndrome, which had atypical clinical manifestations and large difference. Above foundings have revealed novel phenotypes in Chinese male patients with Rett syndrome.

Screw placement selection of minimally invasive percutaneous pedicle screw fixation for thoracolumbar fractures / 中国组织工程研究

BACKGROUND:Monoaxial pedicle screws are not conducive to the instal ation during percutaneous pedicle screw technique, but it has better mechanical conductivity and stability than polyaxial pedicle screws. How to select and use these two kinds of screws in the clinic to exert their advantages and to further elevate efficacy has become a subject worthy of reflection. OBJECTIVE:To compare the clinical efficacy of percutaneous pedicle screw placement for thoracolumbar fracture using monoaxial and polyaxial pedicle screws at different placement selections. METHODS:A total of 46 cases of thoracolumbar fracture without neurological symptoms underwent minimal y invasive percutaneous pedicle screw fixation. 25 patients (monoaxial screw group) were treated with monoaxial pedicle screws and the other 21 ones (polyaxial screw group) with polyaxial pedicle screws. Kyphotic angle, correction rate, correction loss rate and height of injury vertebrae were compared before and after fixation in both groups. The therapeutic effects of monoaxial and polyaxial percutaneous pedicle screw fixation in the treatment of thoracolumbar fractures were evaluated. RESULTS AND CONCLUSION:(1) Fixation time, blood loss, complication and hospital stay were not significantly different in both groups (P>0.05). (2) Kyphotic angle and height of the fractured vertebra body were significantly different between the two groups (P0.05). (4) These findings indicate that compared with the polyaxial percutaneous pedicle screw fixation, the monoaxial pedicle screw may be preferable in percutaneous pedicle screw fixation for thoracolumbar fractures, has more satisfactory fracture distraction reduction, and has less postoperative correction loss rate.

Current status and recognition of pulmonary surfactant for the treatment of acute respiratory distress syndrome / 中华实用儿科临床杂志

Exogenous surfactant replacement has been successfully achieved and become standard therapy in neonatal respiratory distress syndrome,but clinical trials in acute respiratory distress syndrome (ARDS) had mixed results.Early studies show that pulmonary surfactant(PS) administration in ARDS can significantly improve oxygenation and decrease mortality,but in recent years,some clinical trials haven't achieve the most substantial benefits to long-term patient outcomes.The inconsistent results of clinical trials may have related to aspects of drug composition,dosing,delivery,and timing.At this time,surfactant therapy cannot be recommended as routine therapy in pediatric ARDS.

Application of double-pivot extracorporeal reduction devices in internal fixation with percutaneous pedicle screw for thoracolumbar fractures / 中华创伤骨科杂志

Objective To evaluate the clinical results of self-designed double-pivot extracorporeal reduction device in internal fixation with percutaneous pedicle screws for thoracolumbar fractures.Methods From January 2014 to May 2015,a total of 41 patients with thoracolumbar fracture without neurological symptoms underwent minimally invasive fixation with percutaneous pedicle screws.Of them,22 were treated with our self-designed double-pivot extracorporeal reduction device and the other 20 with common single-pivot extracorporeal reduction device.The 2 groups were compared in terms of pre-and postoperative kyphotic angles,correction rates and anterior,middle and posterior heights of injured vertebrae to evaluate the therapeutic effects of the self-designed double-pivot extracorporeal reduction device.Results The patients were followed up for 6 to 18 months (average,12.3 months).No iatrogenic impairment of nerve root,postoperative infection,or implant failure happened.Compared with preoperation,significant improvements were observed in all the patients regarding cobb's angle,anterior,middle and posterior heights of the fractured vertebral body (P ＜ 0.05).Compared with the single-pivot group,the double-pivot group were significantly superior in the kyphotic angle,correction rate,and anterior and middle heights of the injured vertebrae(P ＜ 0.05),but there was no significant difference between the 2 groups in the recovery of posterior height of the fractured vertebral body (P ＞ 0.05).Conclusion Compared with the single-pivot reduction device,the self-designed double-pivot reduction device may be preferable in percutaneous pedicle screw fixation for thoracolumbar fractures.