Abstract: Objective　To explore the accurate diagnosis of children with suspected rare inherited metabolic diseases, and to compare the application value of mass spectrometry and genetic testing in the diagnosis of rare inherited metabolic diseases (IMD). Methods　The clinical information, mass spectrometry, and genetic results of children with suspected rare inherited metabolic diseases admitted to the Department of Pediatrics, the Affiliated Haikou Hospital of Xiangya Medical College, Central South University from March 2017 to December 2021 were analyzed retrospectively. Results　156 children with suspected rare inherited metabolic diseases were detected by mass spectrometry, 67 cases were positive and 89 cases were negative. Children with positive initial examination were retested, and 19 cases were positive. Among the retest positive cases, 13 cases were given genetic testing, and 9 cases were positive and 4 cases were negative. Among the initial negative cases, 54 children with poor therapeutic effect and high clinical suspicion of inherited metabolic diseases completed genetic testing, 15 cases were positive and 39 cases were negative. The results of the two detection methods were compared, the positive rate of mass spectrometry was 19.4%(13/67), and the positive rate of genetic testing was 35.8%(24/67). The continuity correction of Pearson's chi-square test of continuity correction suggested that the results of genetic testing and mass spectrometry were different, and the difference was statistically significant (P<0.05). Taking genetic testing as the gold standard, the sensitivity and specificity of mass spectrometry detection were 37.5% (95%CI:19.6%-59.2%) and 90.7% (95%CI:76.9%-97.0%), respectively. Among the 24 confirmed cases, 5 cases were diagnosed by gene panel and 19 cases were diagnosed by whole exome sequencing (WES). One case diagnosed by WES had no pathogenic mutation detected by gene panel before diagnosis. The detection of DNM1L gene c.1040C>G and AMN gene c.651+1G>C are novel pathogenic gene variants, which have clinical significance. Conclusions　The ability of mass spectrometry in the diagnosis of inherited metabolic diseases is limited. Genetic testing, especially whole exome sequencing, can be the first choice for individualized diagnosis of suspected rare inherited metabolic diseases. In addition, the new mutation sites found by WES in this study enriched the pathogenic gene mutation spectrum and provided direction for further functional biological experiments.

Abstract: Objective To investigate the clinical phenotype and genotype characteristics of mitochondrial encephalomyopathy (ME) families in children. Methods　The clinical data and genetic test results of eleven ME families who were admitted to the department of pediatrics of three tertiary hospitals in Hainan Province from January 2007 to December 2021 were retrospectively analyzed. Results　A total of 13 cases were diagnosed in eleven ME families, including 6 males (46.15%) and 7 females (53.85%). The age of onset ranged from 6 months to 12 years, the interval from onset to diagnosis was 9 months to 8 years and Morava score was 6-11. Clinical symptoms mainly included abnormal movement, developmental retardation or regression, seizures, stroke-like episodes; among the 13 children, 11 (84.62%) had elevated blood lactic acid and 4 (30.77%) had elevated blood creatine kinase. Cranial MRI mainly involved temporal parietal occipital lobe, cerebellum, brainstem and basal ganglia, some with brain atrophy. Gene detection showed that 8 families (72.72%) were caused by mtDNA mutation, of which 5 families and 6 patients were caused by MT-TL1, m.3243A>G, and 5 asymptomatic carriers of 4 families (80.00%) were detected; MT-ND5, m.13513 G>A was detected in 2 families and 3 patients, and an asymptomatic mutation carrier was detected in a family (50.00%); MT-ND3, m.10191T>C was detected in one family and one patient, and 2 asymptomatic mutation carriers were detected. Three families were caused by nDNA mutations (27.27%). A compound heterozygous mutation of c.751C>T and c.516-2A >G in SURF1 gene was found in one family and one patient, which followed autosomal recessive inheritance. The pathogenic loci were inherited from mother and father, respectively. Two new spontaneous mutations c.1040C>G and c.2060_2062delTAG in DNM1L gene were respectively detected in two families and two patients. All children were given mitochondrial cocktail therapy and symptomatic treatment after diagnosis by genetic testing. Follow-up to June 2022, two families were lost to follow-up and 9 families were followed up regularly; three of the 11 children were still survived. Conclusions　For children diagnosed with ME, genetic testing of family members can screen out early asymptomatic pathogenic mutation carriers, achieve early diagnosis of ME and guide clinical genetic counseling. Two new pathogenic sites of DNM1L gene were found in this study, which expanded the genotype spectrum.

Abstract： Objective　To investigate the clinical characteristics and pathogenic genetic mutation of a case with encephalopathy due to defective mitochondrial and peroxisomal fission-1 (EMPF1). Methods　The clinical data and genetic test results of a patient with EMPF1 admitted to the Department of Pediatrics, the Affiliated Hospital of Xiangya Medical College of Central South University in August 2020 were retrospectively analyzed. Results　An 8-year-old girl, her main clinical features were developmental regression, microcephaly, hypotonia, refractory epilepsy, cranial MRI suggesting brain atrophy and abnormal signals in the right temporal-occipital-parietal cortex, aEEG showing slow wave discharge in the right hemisphere; Whole-exome sequencing of families suggested that the child had a heterozygous missense variant at the c.1040C>G site in the DNM1L gene and the verification results by Sanger sequencing showed that her parents had no variant in this site, which was a novel mutation in accordance with autosomal dominant inheritance; bioinformatics analysis predicted that the mutation was pathogenic. After 2 years of outpatient follow-up, the patient's condition was stable after mitochondrial cocktail therapy and antiepileptic drugs, no epileptic seizure occurred in the past year, mental state and swallowing function improved, and she could be fed orally with occasional nausea and vomiting. Conclusions　The main clinical manifestations of EMPF1 are psychomotor developmental delay or regression, dystonia, limb paralysis, epilepsy and so on. According to the clinical phenotype and genetic test results, the rare disease can be diagnosed early.

The incidence of thyroid cancer is the top ranking among endocrine carcinoma worldwide.Many imaging modalities have been applied in diagnosing,characterization of the biological behaviors and predicting the outcomes of various thyroid carcinoma.Over the years,18F-FDG PET/CT has been largely used to identify undifferentiated thyroid carcinoma cells in thyroid carcinoma patients with or without 131I avid lesion.The purpose of this mini-review was to update the clinical role and positive impact of 18F-FDG PET/CT in various thyroid carcinoma patients.

Objective To observe the clinical efficacy of acupuncture-moxibustion plus tuina in treating neurosensory tinnitus and hearing loss.Method Eighty-six patients with neurosensory tinnitus and hearing loss were randomized into a treatment group of 56 cases and a control group of 30 cases. The treatment group was intervened by warm needling plus tuina, while the control group was treated with conventional medications. The clinical efficacies were compared between the two groups.Result The total effective rate was 87.5% in the treatment group versus 63.3% in the control group, and the between-group difference was statistically significant (P<0.01). In the treatment group, the total effective rates of those with a disease duration<1 year, ≥1 year and<2 years, and<5 years were significantly different from the rate of those with a disease duration>5 years (P<0.01). In the treatment group, the total effective rate was 93.8% in those due to liver fire, 94.1% in those due to phlegm heat stagnation, 83.3% in those due to spleen-stomach deficiency, and 72.7% in those due to kidney essence insufficiency. The total effective rates of the liver fire and phlegm heat stagnation types were significantly different from the rate of the kidney essence insufficiency type (P<0.05).Conclusion Acupuncture-moxibustion plus tuina is an effective approach in treating tinnitus and hearing loss.

OBJECTIVE:To provide reference for rational use of adjuvant drugs in the clinic.METHODS:By retrospective method,the utilization of top 10 adjuvant in the list of consumption sum and DDDs in our hospital during 2013-2015 were analyzed statistically in respects of consumption sum,DDDs,DDC,B/A,etc.RESULTS:During 2013-2015,the consumption sum of adjuvant drugs in our hospital increased from 32 959 000 yuan to 42 436 500 yuan,and its proportion in total consumption sum increased from 31.28％ to 35.22％.The top 10 adjuvant dosage forms in the list of consumption sum were injection,and varieties included activating blood circulation to dissipate blood stasis,nerve nutrition,immunoregulation drugs.The consumption sum fluctuated but was on the increase in general.Top 10 adjuvant drug types in the list of DDDs were mainly drugs for enhancing tissue metabolism,vitamins,nerve nutrition,activating blood circulation to dissipate blood stasis.In terms of DDC,main dosage form was injection;B/A of these drugs was poor and drug price was in high level.CONCLUSIONS:It is suggested to standardize the utilization of adjuvant drugs,so as to promote the effective,economical and rational use of drugs.

Using Li Ka Shing Medical School of Hong Kong University as an example, this paper introduced the medical humanities education in Li Ka Shing Medical School of Hong Kong University from four aspects of the medical humanities curriculum implementation in detail. Secondly, it expounded the relationship between students and art through two typical cases. Finally, this paper pointed out the enlightenment for medical humanities educa-tion in Medical Schools. For curriculum, the core curriculum of medical humanities must be determined. For teachers, exchanges and cooperation with foreign mature medical humanities education should be carried out active-ly. For teaching methods, the novelty and diversity must be emphasized.

Objective To investigate the CT and MRI manifestations and clinical features of liver fluke granuloma.Methods A retrospective analysis was performed for the clinical and imaging data of 5 patients with pathologically confirmed liver fluke granuloma who were hospitalized in The First Affiliated Hospital of Guangxi Medical University from January 2010 to September 2015.Results Liver fluke granuloma had slightly low density on CT plain scan,as well as a slightly low signal on T1 weighted images and a slightly higher signal on T2 weighted images of MRI plain scan.Three-phase contrast-enhanced CT scan showed delayed enhancement with mild dilatation of the intrahepatic bile duct,and normal vessels ran through the lesion.Conclusion Liver fluke granuloma is a rare disease in chnical practice.A history of eating raw fish,delayed enhancement on three-phase contrast-enhanced CT scan,and normal vessels running through the lesion all contribute to the diagnosis of liver fluke granulomas.

Objective To investigate the effects of seven halothane and propofol anesthesia on heart rate and myocardial enzymes in elderly patients with coronary heart disease (CHD), and to analyze the safety of clinical application of the two kinds of anesthetic drugs.MethodsA total of 70 cases of elderly patients with coronary heart disease treatment January 2012 to December 2014 general anesthesia surgery as the research object, randomly divided into A group and B group were 35 patients in.A group were treated with seven sevoflurane anesthesia, group B patients were given propofol anesthesia, observe the change of the two groups of patients before and after anesthesia hemodynamic index and myocardial enzyme etc.index.ResultsA group of patients with HR 5min after induction and 10min were significantly lower than before the surgery, and the difference was statistically significant (P<0.05);HR stabilized after the induction of 15min and 20min, and compared with before surgery had no significant difference;patients in group B HR and 10min 5min after induction there was no obvious change compared with that before operation, no statistical significance;and after the induction of 15min and 20min HR increased, the difference was statistically significant (P<0.05).A group and B group in patients with systolic and diastolic blood pressure were lower than before anesthesia in varying degrees, and group B more significantly, the difference was statistically significant (P<0.05).A group and B group of patients after 6 h, cTnl and CK-MB in 12h and 24h than 15min before surgery has increased significantly, and A group cTnl and CK-MB were lower than B group, the difference was statistically significant (P<0.05).ConclusionThe clinical application of seven sevoflurane anesthesia for elderly patients with coronary heart disease during propofol is feasible, but seven halothane on blood pressure and heart rate of patients affected with propofol, improve the myocardial enzyme level, and better reduce the damage of perioperative myocardial, more suitable for anesthesia in elderly coronary heart disease.