Objective:To analyze the clinical features and genotypes of mitochondrial complex Ⅰ deficiency due to NDUFAF5 gene mutations.Methods:Clinical data of 2 cases with mitochondrial complex Ⅰ deficiency due to NDUFAF5 gene mutations admitted in the Department of Pediatrics, Peking University First Hospital from February 2015 to July 2018 were retrospectively reviewed and followed up.Reported cases of mitochondrial complex Ⅰ deficiency due to NDUFAF5 gene mutations were searched in online databases, including the PubMed, Wanfang, Chinese Journal Full-Text Database and VIP database from January 1975 to February 2020 with " NDUFAF5" as the key word.Through literature review, clinical features and genotypes of mitochondrial complex Ⅰ deficiency due to NDUFAF5 gene mutations were summarized.Results:Case 1 showed mentor and mental regression after infection at the age of 1 year and 4 months.The condition of case 1 remained stable at the age of 5 year and 6 months at the last follow-up.Brain magnetic resonance imaging (MRI) showed multiple lesions in the white matter of the frontal and parieto-occipital lobes, basal ganglia, thalamus, cerebellum, brain stem and corpus callosum.Case 2 showed rapidly bilateral visual impairment at the age of 7 years and 4 months.The patient′s vision moderately recovered at the age of 8 years and 8 months.Brain MRI showed midbrain, periaqueductal gray, medulla oblongata and putamen lesions.Spinal MRI showed continuous lesions in the cervical cord 1-4.Genetic test showed NDUFAF5 gene c. 764C>T (p.Ala255Val) and c. 508C>T (p.Arg170Trp), homozygous c. 836T>G (p.Met279Arg) mutations in case 1 and case 2 respectively.Through online searching, 6 reports involving 14 cases were retrieved.The most common clinical phenotype was Leigh syndrome.Two cases had disease onset during the neonatal period, and their disease progressed rapidly and died within 1 year old.Eleven cases had onset during the infantile period, and 72.7% (8/11 cases) of them had a normal development.The common initial symptoms were mental or motor regression, feeding difficulty and dystonia.Seventy-two point seven percent (8/11 cases) had acute/subacute onset after infection, showing paroxysmal deterioration, and died in infancy or childhood.One patient developed dystonia in childhood and visual impairment in adulthood.Conclusions:The onset age ranged from neonatal period to childhood in patients with NDUFAF5 gene mutations, and their clinical phenotypes vary a lot.The main clinical phenotype is Leigh syndrome.Disease onset during the infantile period is frequent, and mostly presents paroxysmal deterioration after infection, while disease onset in childhood is rare.

Objective: To observe the effect of ulinastatin combined with glutamine on early hemodynamics in patients with severe burns. Methods: Thirty-two patients with severe burns who met the inclusion criteria and hospitalized in the Affiliated Huaihai Hospital of Xuzhou Medical University from January 2016 to December 2018 were selected for conducting a prospective randomized controlled trial. According to the random number table, the patients were divided into conventional treatment group (4 males and 4 females), ulinastatin group (5 males and 3 females), glutamine group (5 males and 3 females), and ulinastatin+ glutamine group (4 males and 4 females), with ages of (36±8), (34±8), (35±9), and (38±13) years in turn. From post injury day 2, patients in the 4 groups were given nutritional support of equal nitrogen and equal calories, of which protein was 2.0 g/kg daily. In addition, patients in the ulinastatin group received intravenous injection of 100 kU ulinastatin every 8 hours for 7 consecutive days; 0.3 g/kg of protein given to patients in the glutamine group was provided by alanine glutamine for 7 consecutive days; patients in the ulinastatin+ glutamine group received corresponding treatments of both ulinastatin group and glutamine group. With the help of pulse contour cardiac output (PiCCO) monitoring technology, the cardiac index, stroke volume index (SVI), global end-diastolic volume index (GEDI), systemic vascular resistance index (SVRI), extravascular lung water index (EVLWI), pulmonary vascular permeability index (PVPI) of patients in each group were measured on treatment day (TD) 1, 3, and 7. Data were processed with Fisher′s exact probability method, one-way analysis of variance, analysis of variance for repeated measurement, and Bonferroni method. Results: The cardiac index was low and the SVI value was lower than the normal value on TD 1 in patients of the 4 groups, without statistically significant differences between any two groups (P>0.05), and then they were all gradually increased. On TD 3 and 7, compared with those of the conventional treatment group, the cardiac index and SVI of patients in the other three groups were all increased, and the cardiac index and SVI of patients in the ulinastatin+ glutamine group were significantly increased (P<0.05 or P<0.01). On TD 1, the GEDI of patients in the conventional treatment group, ulinastatin group, glutamine group, and ulinastatin+ glutamine group were at normal low levels, which were (659±58), (661±79), (659±88), and (653±71) mL/m² respectively, without statistically significant differences between any two groups (P>0.05), and then they all gradually increased. On TD 3 and 7, compared with (684±82) and (742±46) mL/m² of the conventional treatment group, the GEDI of patients in the ulinastatin group, glutamine group, and ulinastatin+ glutamine group were all elevated, which were (732±53) and (777±33), (725±58) and (783±49), (813±65) and (849±27) mL/m² respectively, and the GEDI of patients in the ulinastatin+ glutamine group was significantly increased (P<0.05). The SVRI of patients in the four groups were all at high levels on TD 1, without statistically significant differences between any two groups (P>0.05), and then they all gradually decreased. On TD 3 and 7, compared with those of the conventional treatment group, the SVRI of patients in the other three groups were all increased, and the SVRI in the ulinastatin+ glutamine group was significantly increased (P<0.05). On TD 1, the EVLWI of patients in the conventional treatment group, ulinastatin group, glutamine group, and ulinastatin+ glutamine group were all in the normal range, which were (6.6±0.6), (6.3±0.4), (6.5±0.4), and (6.6±0.6) mL/kg respectively, without statistically significant differences between any two groups (P>0.05), and then they all showed the increasing trend. On TD 3 and 7, compared with (7.1±0.9) and (7.9±0.5) mL/kg of the conventional treatment group, the EVLWI of patients in the ulinastatin group, glutamine group, and ulinastatin+ glutamine group were all decreased, which were (6.2±0.6) and (7.1±0.4), (6.3±1.0) and (7.2±0.9), (5.8±0.7) and (6.7±0.6) mL/kg respectively, and the EVLWI of patients in the ulinastatin+ glutamine group was significantly decreased (P<0.05). On TD 1, the PVPI of patients in the four groups were all in the normal range, without statistically significant differences between any two groups (P>0.05), and then they all gradually decreased. On TD 3 and 7, compared with those of the conventional treatment group, the PVPI of patients in the other three groups were all decreased, and the PVPI in the ulinastatin+ glutamine group was significantly decreased (P<0.05). Conclusions Ulinastatin combined with glutamine can increase the cardiac index, SVI, GEDI, and SVRI and reduce the EVLWI and PVPI in treating patients with severe burns, thereby increasing early cardiac output after injury, promoting tissue and organ perfusion, and reducing pulmonary edema, resulting in significant improvement in early hemodynamics of patients with severe burns.

Objective? To explore the reliability and validity of critical-care pain observation tool (CPOT) in pain assessment in resting state among neurosurgery patients undergoing craniotomy. Methods? From May 2017 to May 2018, we selected 200 neurosurgery patients undergoing craniotomy at Beijing Tiantan Hospital with the method of prospective and observational study. The Chinese version of CPOT was used to pain assessment in resting state of patients and its scores were recorded. At the same time, the Changhai Pain Rating Scale was used to pain assessment by themselves as a gold standard. We drew the receiver operating characteristic (ROC), calculated the area under curve and confirmed the score of CPOT to determine the sensitivity and specificity of pain. The intraclass correlation coefficient (ICC) was used to evaluate the reliability among CPOT reviewers. Results? A total of 200 patients undergoing craniotomy back to intensive care unit (ICU) were included including 100 patients without and 100 patients with trachea cannula. The Chinese version of CPOT had good reliability in patients between two groups with 0.857 (95%CI: 0.787-0.904) for the ICC of patients without trachea cannula and with 0.851 (95%CI: 0.778-0.899) for the ICC of patients with trachea cannula. Among patients without trachea cannula, when the cut-off value of CPOT was equal or greater than 2, CPOT showed the highest Youden index in assessing pain with 58% for the sensitivity and 86% for the specificity. Among patients with trachea cannula, the cut-off value of CPOT being equal or greater than 3 showed the highest Youden index in assessing pain with 74% for the sensitivity and 91% for the specificity. There was no statistical difference in the area under curve of pain assessed by CPOT between patients with and without trachea cannula (0.866 vs. 0.777, P＞0.05). Conclusions? CPOT has the good reliability and validity in pain assessment in resting state among neurosurgery patients undergoing craniotomy.

Objective:To evaluate the efficacy and safety of rituximab in pediatric myasthenia gravis (MG).Methods:Case series study. The clinical manifestations, laboratory tests, treatment plans and prognosis of 27 pediatric MG patients treated with rituximab from June 2013 to June 2023 at Children′s Medical Center of Peking University First Hospital were retrospectively collected.Results:There were 5 males and 22 females in 27 MG children. The onset age was 2.1 (1.6, 4.8) years, ranging from 8 months to 11 years. The clinical classification included 20 children (74%) of ocular MG and 7 children (26%) of generalized MG. Seventeen children (63%) had positive MG-related pathogenic antibodies, including 17 children of anti-AchR antibody and 1 of them also had anti-MuSK antibody. Rituximab was used as first-line immunosuppressant in 13 children, second-line immunosuppressant in 13 children and third-line immunosuppressant in 1 child. Immunosuppressants used before rituximab including 8 children of cyclosporine, 3 children of tacrolimus, 1 child of azathioprine, 1 child of mycophenolate mofetil and 1 child of cyclosporine combined with azathioprine. Rituximab was used for at least half a year with a follow-up period of more than 12 months. At the last follow-up after rituximab treatment, all children achieved improved or above, 14 children (52%) achieved complete stable remission, 7 children (26%) achieved pharmacologic remission, 1 child (4%) achieved minimal manifestations, and 5 children (18%) improved. After rituximab treatment, 27 children all could reduce the immunomodulation therapy and shorten the course of glucocorticoid therapy, and 22 children (81%) had stopped the glucocorticoid therapy. Among the 14 children with poor efficacy of other immunosuppressants, rituximab had complete stable remission of 7 children. The most common adverse reaction was respiratory infection (4 children (15%)). Only 2 children had allergic reaction to rituximab and got better after symptomatic treatment.Conclusions:Rituximab has good efficacy and tolerance in pediatric MG. Early application of rituximab can improve the prognosis and shorten the course of glucocorticoid treatment.