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 understand the current situation of family resilience in middle-aged and young patients with coronary heart disease and analyze its influencing factors.Methods:Using the convenient sampling method, a total of 220 middle-aged and young patients with coronary heart disease who visited Cardiology Department of Affiliated Hospital of Jining Medical University from May to August 2022 were selected as the research objects. The survey was conducted using general information questionnaire, Family Resilience Assessment Scale, Perceived Stress Scale, Family Care Index Questionnaire and Social Support Rating Scale. Multiple linear regression analysis was used to investigate the influencing factors of family resilience in young and middle-aged patients with coronary heart disease.Results:The total score of family resilience in middle-aged and young patients with coronary heart disease is (209.34±27.52) . The results of multiple linear regression analysis showed that the number of children, the New York Heart Association cardiac function rating, perceived stress, family care and social support were the influencing factors of family resilience in middle-aged and young patients with coronary heart disease ( P<0.05) , accounting for 40.4% of the total variance. Conclusions:The family resilience of middle-aged and young patients with coronary heart disease is above the average level. Clinical medical staff should strengthen the evaluation of the family resilience of middle-aged and young patients with coronary heart disease, combine its influencing factors and develop targeted intervention measures to improve the family resilience level of patients and improve their family function.

Objective:To investigate the clinical features, treatments and prognoses of children with antibody-mediated central nervous system (CNS) autoimmune diseases.Methods:Two hundred and seven children with antibody-mediated CNS autoimmune diseases confirmed by anti-neuronal antibody detection in blood and/or cerebrospinal fluid in Department of Neurology, Children's Hospital of Hunan Province from June 2014 to May 2022 were enrolled. Their clinical features, laboratory and imaging data, treatment regimens and prognoses were retrospectively analyzed.Results:Of the 207 children, 117 were positive for anti- N-methyl- D-aspartate receptor (NMDAR) antibodies, 63 for anti-myelin oligodendrocyte glycoprotein (MOG) antibodies, 32 for anti-glial fibrillary acidic protein (GFAP) antibodies, 6 for anti-contactin-associated protein-like 2 (CNTNAP2) antibodies, 3 for anti-aquaporin 4 (AQP4) antibodies, 2 for anti-gamma-aminobutyric acid type B receptor (GABABR) antibodies, and 1 for anti-anti-leucine-rich glioma-inactivated 1 (LGI1) antibodies. Acute disseminated encephalomyelitis (ADEM) was the most common clinical phenotype among the children, followed by optic neuritis (ON). Behavioral abnormalities, seizures, and involuntary movements were the most common clinical presentations of anti-NMDAR encephalitis for these children, while fever, headache, and disturbance of consciousness or vision were the most common symptoms for children with MOG antibody disease or autoimmune GFAP astrocytopathy. The coexistence of multiple anti-neural antibodies was detected in 17 patients, among which 10 had coexistent anti-NMDAR and anti-MOG antibodies (including 1 with anti-GFAP antibody), 3 had coexistent anti-NMDAR and anti-GFAP antibodies, 3 had coexistent anti-MOG and anti-GFAP antibodies, 2 had coexistent anti-NMDAR and anti-CASPR2 antibodies, and 1 had coexistent anti-GABABR and anti-CASPR2 antibodies. In our cohort, of the 202 children examined for cerebrospinal fluid, 154 had cerebrospinal fluid leukocytosis and 27 had elevated protein. Of the 203 children had electroencephalography, 179 was abnormal; abnormal EEG was mainly manifested as focal or global slow waves, and epileptic discharge in some children; 205 patients received immunotherapy. All survivors were followed up for at least 6 months; 164 recovered completely, 40 had varied sequelae, and 3 died; 28 had one or more relapses. Conclusion:Antibody-mediated CNS autoimmune diseases occur in children at all ages; most such pediatric patients have good response to immunotherapy, enjoying low mortality rate; however, some survivors have relapsing risk.

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

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 compare the ability of body mass index （BMI）， body fat percentage （BFP）， waist circumference （WC）， waist-to-height ratio （WHtR）， visceral fat index （VFI） and the combinations of two kinds of obesity indices to predict the risk of hypertension. 【Methods】 Data collected in the baseline survey of “Gansu Province’s Urban and Rural Natural Population Cohort Establishment and Tumor Follow-up Study” were analyzed. Area under the curve （AUC） of ROC curve with covariates was used to analyze and compare the effects of individual obesity evaluation index and the combination of two kinds of obesity indices in predicting the risk of hypertension. 【Results】 Analyses of data of 20，079 adults showed that the AUC of BMI， WC， WHtR， BFP and VFI was 0.636， 0.604， 0.615， 0.614 and 0.619， respectively. AUC of the combination of BMI and WC （0.643） was higher than that of BMI （0.636）； however， the change rate of AUC was only 1.09%. AUC of the combinations of WC， WHtR and VFI， the three central obesity evaluation indices， and BFP， a general obesity evaluation index， were lower than that of BMI. The optimal cutoff value for BMI was 24.2 kg/m². 【Conclusion】 The effect of BMI in predicting the risk of hypertension is better than that of BFP， WC， WHtR and VFI. The effects of the combinations of the two kinds of obesity evaluation indices are not better than that of BMI. To prevent and control hypertension， adults should keep their BMI under overweight.

Objective:To report 2 young infants of sodium channel related epilepsy with SCN2A gene mutation, and to discuss the clinical characteristics of the disease and the efficacy and safety of lacosamide combined with the literature.Methods:Corresponding information of 2 children hospitalized in the Department of Neurology of Hunan Children′s Hospital in July 2021 and October 2021 was collected, including the symptoms, comprehensive physical examination, blood, cerebrospinal fluid, imaging, electrophysiological examination, diagnosis and treatment process, response to treatment and other clinical data, as well as the sequencing results of the whole exome of the children. The efficacy and safety of lacosamide were analyzed, and the related literatures of the Biomedical Literature Database, Wanfang Data Knowledge Service Platform and Chinese Knowledge Infrastructure Database were searched and reviewed.Results:Both of the 2 cases were girl. Their onset age was within 3 months. The initial symptoms were frequent convulsions and backward development. There was no structural abnormality in the head image. The convulsions could not be controlled according to conventional multidrug treatment. The seizures were quickly controlled with lacosamide. Now they have been followed up for 6 months. No obvious adverse reactions were found. Case 1 gene test results showed the SCN2A gene (chr2:166152333-166246334) heterozygous deletion, SCN1A gene (chr2:166847754-16693013) heterozygous deletion, the deletion size being about 5.72 Mb. Case 2 gene test results showed new missense mutation of SCN2A (c.1285G>A, p.Glu429Lys). There were dozens of seizures every day. They were treated with valproic acid, oxcarbazepine and levetiracetam successively. The seizures could not be controlled. Three focal seizures originated in the left temporal region were detected by electroencephalogram. There was no recurrence on the third day after adding lacosamide, and there was no attack after 5 months of follow-up. No obvious adverse reactions were found during follow-up.Conclusions:Sodium channel related epileptic encephalopathy often starts early, has frequent seizures, and can be accompanied by backward psychomotor development at the same time. The slow sodium channel blocker lacosamide has good efficacy and safety in the treatment of sodium channel-related epilepsy with SCN2A gene mutation or combined SCN1A gene mutation.

Objective:To investigate the predictive value of total cholesterol / high density lipoprotein cholesterol ratio (TC/HDL) for ischemic stroke in patients with coronary heart disease (CHD) .Methods:A total of 1 983 inpatients with CHD in the Affiliated Hospital of Jining Medical University from January 1, 2017 to December 31, 2017 were selected as subjects by cluster sampling method. The clinical data were collected and followed up prospectively for 2 years.Results:During the 2-year follow-up period, 36 cases of ischemic stroke occurred in patients with CHD, and the incidence rate was 1.82% (36/1 983) . There was a curvilinear relationship between TC/HDL and ischemic stroke in male patients with CHD, and the tipping point was 3.84.When TC / HDL was less than 3.84, TC / HDL was negatively correlated with the incidence of ischemic stroke. The incidence of ischemic stroke decreased by 72% for each additional unit of TC/HDL ( P=0.049) . When TC/HDL was over 3.84, there was no correlation between TC / HDL and the incidence of ischemic stroke ( P=0.267) . There was a curvilinear relationship between TC/HDL and ischemic stroke in female patients with CHD, and the tipping point was 2.81. When TC / HDL was less than 2.81, TC / HDL was negatively correlated with the incidence of ischemic stroke. The incidence of ischemic stroke decreased by 99% for each additional unit of TC/HDL ( P=0.019) . When TC/HDL was over 2.81, there was no correlation between TC / HDL and the incidence of ischemic stroke ( P=0.110) . Conclusions:TC/HDL has different thresholds in predicting ischemic stroke in CHD patients with different genders, which has a certain clinical significance in predicting the prognosis of patients with coronary heart disease.

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.

Objective To discuss the intervention effects and mechanisms for Rapamycin on renal interstitial fibrosis in rats.Methods A total of 72 Wistar male rats were randomly divided into 3 groups,normal group(n =24) ,model group(n =24), treatment group (n =24).The model group and treatment group received adenine 200 mg/kg daily,and the treatment group was also given Rapamycin 5 mg/(kg·d) at the 8th day,the normal group was just given the same amount of normal saline for 6 weeks.In the end of the 2nd,4th and 6th week,8 rats in each group were sacrificed respectively.The expression of hepatocyte growth factor(HGF), transforming growth factor-β (TGF-β) and neutrophils gelatinases related apolipoprotein (NGAL) in each group were observed.The software of image analysis system was used for semi-quantitative analysis.Results HE and Masson staining results showed that the renal tubular were progressive swelling, and changed with interstitial fibrosis,atrophy and even necrosis in model group from 2 weeks to 6 weeks.The pathological changes of kidney were more ease in the treatment group compared with those in model group.Immunohistochemical staining results showed that HGF expression levels of renal interstitial tissue in model group and treatment group at the 2nd week were significantly higher than those of normal group(P ＜0.05), and were significantly decreased at the 4th week and 6th week (P ＜ 0.05);HGF expression levels of renal interstitial tissue in treatment group were significantly higher than those in model group (P ＜ 0.05).NGAL expression levels of renal interstitial tissue in model group and treatment group at the 2nd week were significantly higher than those in normal group(P ＜0.05) ,and were significantly decreased at the 4th week and 6th week(P ＜ 0.05);NGAL expression levels of renal interstitial tissue in treatment group were significantly higher than those in model group (P ＜ 0.05).TGF-β expression levels of renal interstitial tissue in model group and treatment group at the 2nd,4th,and 6th week were significantly higher than those in normal group (P ＜0.05) ,while TGF-β expression levels of renal interstitial tissue in treatment group were significantly lower than those in model group (P ＜ 0.05).Conclusion Rapamycin could improve the rat kidney tissue pathology, relieve renal tubular expansion, and slow progression of renal interstitial fibrosis, and has certain protective effect to the kidney.