OBJECTIVE: To analyze the clinical phenotype and genetic variants of a child suspected for mitochondrial F-S disease. METHODS: A child with mitochondrial F-S disease who visited Department of Neurology, Hunan Provincial children's Hospital on November 5, 2020 was selected as research subject of this study. Clinical data of the child was collected. The child was subjected to whole exome sequencing (WES). Bioinformatics tools were used to analyze the pathogenic variants. Candidate variants were verified by Sanger sequencing of the child and her parents. RESULTS: WES revealed that the child has harbored compound heterozygous variants of the FDXR gene, namely c.310C>T (p.R104C) and c.235C>T (p.R79C), which were inherited from her father and mother, respectively. Neither variant has been reported in HGMD, PubMed, 1000 Genomes, and dbSNP databases. Both of the variants have been suggested as deleterious according to the prediction results from different bioinformatics analysis software. CONCLUSION Mitochondrial diseases should be suspected for patients with multiple system involvement. The compound heterozygous variants of the FDXR gene probably underlay the disease in this child. Above finding has enriched the spectrum of FDXR gene mutations underlying mitochondrial F-S disease. WES can facilitate the diagnosis of mitochondrial F-S disease at the molecular level.
Female ; Humans ; Exome Sequencing ; Mitochondrial Diseases/genetics* ; Mothers ; Mutation ; Phenotype ; Child

Objective:To investigate the types, incidences, and clinical characteristics of shock in polytrauma patients at different stages after polytrauma.Methods:A retrospective study was conducted on polytrauma patients admitted to multiple trauma centers from June 2020 to December 2021. The inclusion criteria were patients >18 years old and treated due to polytrauma. Exclusion criteria included an admission time of more than 48 h after trauma, a history of malignancy, or metabolic, consumptive, and immunological diseases. The early stage was defined as the period of ≤48 h after polytrauma, and the middle stage was defined as the period between 48 h and 14 days. The patient’s medical history, clinical manifestations, laboratory tests, imaging examination, injury severity score (ISS), and Glasgow coma scale (GCS) were collected. The types, incidences, and clinical characteristics of shock in different stages after polytrauma were analyzed, according to the diagnostic criteria of each type of shock. The differences between the groups were compared by Student’s t test, χ2 test or Mann-Whitney U test. Results:The incidence of the early and middle stage shock after polytrauma were 73.1% and 36.4%, respectively, with statistically significant difference between stages ( P<0.01). There were significant differences in the incidence of hypovolemic shock (83.6% vs. 28.4%), distributed shock (13.7% vs. 80.9%) and cardiogenic shock (3.5% vs. 6.6%) between stages (all P<0.05). The incidence of obstructive shock (8.4% vs. 9.7%, P>0.05) was similar between stages. The incidence of undifferentiated shock was 1.6% and 1.2%, respectively. There were 9.5% patients with multifactorial shock in the early stage and 14.4% in the middle stage. Totally 7 combinations of multifactorial shock were found in different stages after polytrauma. In the early stage, the combination of HS and DS accounted the highest ratio (42.3%) and followed by HS and OS for 28.8%. In the middle stage, the combination of HS and DS was the most common (48.6%) and followed by DS and OS (24.3%). Conclusions:The incidence of shock in polytrauma patients is high. Different types of shock can occur simultaneously or sequentially. Therefore a comprehensive resuscitation strategy is significant to improve the success rate of treatment.

Clinical data of a child with high blood ammonia and suspected argininosuccinate synthetase deficiency (ASSD) in Hunan Children′s Hospital were retrospectively analyzed, including data of mass spectra for blood amino acids and acyl carnitine, urine organic acid analysis and whole exome sequencing.After the exact diagnosis of ASSD and being approved by the Administrative Regulation for Import Medical Devices Urgently Needed in Boao Lecheng International Medical Tourism Pilot Zone of Hainan Free Trade Port, the patient was medicated with Glyceryl phenylbutyrate (GPB) and followed up.The patient was a boy aged 7 years and 8 months, who presented at the Neurology Department of Hunan Children′s Hospital for sleepiness, abnormal mental behavior and personality change for 1 week on December 2, 2021.Before GPB treatment, the highest blood ammonia, alanine aminotransferase and aspartate transaminase were 325.2 μmol/L, 465.7 IU/L and 277.3 IU/L, respectively.Genetic metabolism assay of blood and urine showed a significantly increased citrulline at 697.42 μmol/L; urine organic acid analysis showed increased urinary orotic acid at 144.2 μmol/L, and increased uracil at 65.1 μmol/L.A pure heterozygous variant of the ASS1 gene (c.1087C>T, p.R363W) was detected.After GPB treatment, the blood ammonia levels were 21.3 μmol/L, 54.6 μmol/L and 62.4 μmol/L on the 41 st, 90 th and 146 th days, respectively.Until July 20, 2022 follow-up visit, the patient recovered well without adverse events.This was the first ASSD child in China who was treated with GPB.This case report provided therapeutic experience of ASSD in our country.ASSD has a high mortality rate and unexplained abnormal mental behavior.It is necessary to timely measure blood ammonia, and a series of urea cycle disorders should be well concerned.The diagnosis and management of ASSD rely on the data of metabolism examination and genetic testing.

Objective To analyze and assess the postoperative motor function in children with spastic cerebral palsy (SCP) by surface electromyography (sEMG) and joint angle. Methods Sixteen children with SCP were involved in this study. The sEMG of rectus femoris, biceps femoris, semitendinosus, tibialis anterior, lateral gastrocnemius and medial gastrocnemius muscles and joint angles of the hip, knee and ankle during straight walking were collected preoperatively and postoperatively. In every gait phase, the mean values of joint angles, root mean square and integrated electromyography of sEMG were calculated, to evaluate muscle strength and muscular tension quantitatively. Results The muscle tension of lower limbs was significantly decreased (P<0.05). The muscle strength of rectus femoris and biceps femoris was decreased in the swing phase. At the midswing and terminal swing phase, the strength of tibialis anterior increased significantly (P<0.05). The flexion angle of hip and knee decreased significantly (P<0.05). The dorsiflexion angle of ankle increased significantly (P<0.05), and the varus angle decreased significantly (P<0.05). Conclusions After operation, the crouching gait and clubfoot were improved positively. Therefore, the motor function of children was improved. Combining sEMG and joint angle can evaluate the muscle function of patients quantitatively, and it also can provide references for clinical diagnosis.

Lateral epicondylitis is a common clinical disease with characteristics of lateral elbow pain, insidious onset and easy recurrence, which can cause forearm pain and decreased wrist strength, seriously affecting patients′ daily life and work. Although there are various treatment methods for lateral epicondylitis with different effects, standard treatments are still lacking nowadays. Platelet-rich plasma (PRP) has good effects on bone and tendon repair, and is now widely used in the treatment of lateral epicondylitis. However, there is a lack of a unified understanding of the technology and specifications of PRP in the treatment of lateral epicondylitis. Therefore, the Sports Medicine Branch of the Chinese Medical Association and Physical Medicine and Rehabilitation Branch of the Chinese Medical Association organized experts in the fields of sports medicine and rehabilitation medicine in China to formulate the "clinical expert consensus on platelet-rich plasma treatment for lateral epicondylitis (2022 version)", and proposed suggestions based on evidence-based medicine mainly from the concept, epidemiology and pathophysiology of lateral epicondylitis, symptoms, signs and imaging manifestations of lateral epicondylitis, PRP concept and application component requirements, quality control of PRP preparation technology, indications and contraindications of PRP in the treatment of lateral epicondylitis, PRP injection in the treatment of lateral epicondylitis, application of PRP in the operation of lateral epicondylitis, related problems after PRP treatment of lateral epicondylitis, evaluation of the results after PRP treatment of lateral epicondylitis, and health and economic evaluation of PRP treatment of lateral epicondylitis, so as to provide guidance for clinical diagnosis and treatment.

Objective:To evaluate the value of radiomics analysis based on enhanced MRI in predicting the recurrence of acute pancreatitis (AP).Methods:From January 2017 to December 2020, 201 patients diagnosed with AP were collected retrospectively in the Affiliated Hospital of North Sichuan Medical College. These patients underwent plain and enhanced MRI within 7 days after onset. After clinical follow-up, 102 cases were classified as non-recurrence AP group and 99 cases were classified as recurrent acute pancreatitis (RAP) group. They were divided into training set (140 cases, 71 cases in non-recurrence AP group, 69 cases in RAP group) and validation set (61 cases, 31 cases in non-recurrence AP group, 30 cases in RAP group) using a random number table method. The independent sample t-test, Mann-Whitney U test or χ 2 test were used to compare the clinical characteristics between the two groups, and the clinical characteristics with statistical differences were included in logistic regression to construct the clinical model. The quantitative features of radiomics were extracted based on the late arterial-phase images of contrast-enhanced MRI. The best radiomics features retained after dimensionality reduction were used to construct the radiomics model through logistic regression analysis, and a combined model was constructed by combining the clinical features. The prediction ability of the models was evaluated by the receiver operating characteristic curve, and the area under the curve (AUC) was compared by DeLong test. Results:There were statistical differences in gender, severity, local complications, hyperlipidemia and smoking between non-recurrence AP group and RAP group (all P<0.05). Hyperlipidemia was an independent risk factor for AP recurrence (OR=5.236, 95%CI 2.710-10.101). The 9 best radiomics features by dimensionality reduction were selected to construct a radiomics model. The AUCs of clinical model, radiomics model and combined model in the training set were 0.803, 0.944 and 0.978 respectively, and those in the validation set were 0.678, 0.940 and 0.955 respectively. In the training set and the validation set, the prediction ability of the radiomics model and combined model were higher than those of the clinical model (training set: Z=3.28, 4.83, P=0.001,<0.001; validation set: Z=3.48, 4.05, both P<0.001). Conclusions:The radiomics model based on late arterial-phase enhanced MRI has good quantitative prediction ability for the recurrence of AP, which can provide a reference for the prevention and treatment of RAP.

Objective:To analyze the risk factors of stress perception in patients with systemic lupus erythematosus (SLE) , and construct and validate a risk prediction model for health risk stress perception in SLE patients.Methods:This study is a cross-sectional study. From October 2020 to March 2021, totals of 310 SLE inpatients and outpatients in the Department of Rheumatology and Immunology from 4 general hospitals in Anhui Province were selected as the modeling object. According to the patients' stress perception score, they were divided into the group with health risk stress ( n=132) and the group without health risk stress ( n=178) . The general data, SLE disease activity, general self-efficacy, emotional intelligence, resilience, sleep disturbance, anxiety, depression were compared between the two groups, and independent risk factors were screened out and Logistic regression was used to construct a risk prediction model. Hosmer-Lemeshow and receiver operator characteristic curve (ROC) area were used to test the fit and prediction effect of the model, respectively, and 206 patients were included for model validation. Results:Binary Logistic regression analysis showed that SLE disease activity, resilience, anxiety, payment type, and family monthly income were the influencing factors of stress perception in SLE patients, and the difference was statistically significant ( P<0.05) . Hosmer-Lemeshow fit test showed χ 2=6.123, P=0.633. Besides, the area under the ROC, maximum Youden index, predictive critical value, sensitivity and specificity were 0.903, 0.660, 0.497, 0.795 and 0.865 respectively. Conclusions:This study is based on five independent risk factors of SLE patients' stress perception, namely SLE disease activity, resilience, anxiety, payment type, and family monthly income. The risk prediction model has good sensitivity and specificity, which can provide a reference for clinical assessment of health risk stress perception in SLE patients.

Objective    To investigate whether metformin has protective effect on myocardial injury in patients with coronavirus disease 2019 (COVID-19) combined with coronary heart diseases and diabetes. Methods    COVID-19 patients with coronary heart disease and diabetes who were admitted to Tongji Hospital from January 18 to April 25 in 2020 were enrolled. They were divided into a metformin group and a none-metformin group according to whether the metformin was used. The demographic characteristics, clinical symptoms, laboratory parameters, treatment and clinical outcomes of the two groups were analyzed retrospectively. Results    There were 29 patients in the metformin group, 3 patients (12.0%, 3/25) suffered myocardial injury and 1 (3.4%) died of acute respiratory failure complicated by septic shock; 67 patients were in the non-metformin group and 24 (37.5%, 24/64) had myocardial injury but 15 died in hospital among whom 1 died of septic shock complicated by disseminated intravascular coagulation, 1 acute respiratory failure complicated by possible cerebral hemorrhage, 2 acute respiratory failure, 1 fulminant myocarditis, 3 acute myocardial infarction and 7 cardiac arrest. The incidence of myocardial injury (12.0% vs. 37.5%, P=0.019), hospital mortality (3.4% vs. 22.4%, P=0.034) and mortality of cardiovascular events (0.0% vs. 16.4%, P=0.049) in the metformin group were significantly lower than those in the non-metformin group. Multivariate analysis showed that the use of insulins (OR=11.235, P=0.003) was an influencing factor for in-hospital mortality of patients. The use of metformin (OR=0.154, P=0.013) was positively correlated with the myocardial injury. Conclusion    When patients with coronary heart disease and diabetes are infected with COVID-19, metformin can effectively reduce myocardial damage and has a certain effect on reducing hospital mortality. Combined with clinical considerations, it is worthy of popularization.

Intraductal papillary mucinous neoplasm of the bile duct (IPMN-B) is a special type of tumor occurring in the biliary system, with no specific clinical manifestations and imaging findings, and thus it is difficult to diagnose before surgery. It is often considered when a large amount of mucus is found in the bile duct during surgery and then it is forced to change the surgical plan. Clinicians lack an understanding of this disease due to its low incidence rate. This article reviews the recent research advances in the etiology and classification, clinical features, differential diagnosis, treatment, and prognosis of IPMN-B, so as to improve the clinical diagnosis and treatment of IPMN-B among clinicians.

Objective To study the clinical efficacy and follow-up study of ketogenic diet adding treatment for refractor epilepsy in children.Methods Cluster sampling method was employed to select children in children's hospital from January 2015 to June 2017,a total of 25 cases were diagnosed refractor epilepsy and adding ketogenic diet.Engel grade was used to evaluate the efficiency,the side effects,electroencephalogram (EEG) changes and intellectual development at 3 months,3-6 months,and more than 6 months.Results The effective rate of epileptic seizure control was 0,66.7％ and 87.5％ at 3 months,3 -6 months and ＞ 6 months respectively.The improvement rate of EEG discharge index was 33.3％,50％ and 81.3％ respectively.The improvement of intelligence development was 33.3％,50％ and 68.8％ respectively.Gastrointestinal disturbances were the main side effects.Severe side effect occurred in two cases--they had severe food refusal and were stopped the ketogenic diet adding treament.Conclusions The ketogenic diet is effective,safe,few side effects and tolerable in infants and children with refractory epilepsy.The ketogenic diet may improve cognition and behavior in addition to reducing seizure frequency,the interical epileptiform discharges (IED) index and improve the quality of life of epileptic children.However,the acceptance of ketogenic diet therapy for children is not satisfactory.The sample size is small and needs further promotion.While large samples and long-term observations are still desired to better recipes,and to provide possibly effective altemative to other therapies for refractor epilepsy.