ObjectiveTo explore the relationship between the T3394C mutation of the mitoehondrial DNA ND1 gene and type 2 diabetes mellitus (T2DM) in the elderly. MethodsDirect sequencing of PCR product was applied to study the T3394C mutation of mitochondrial DNA in 340 unrelated individuals in T2DM patients (90 cases of elderly patients, 250 cases of non-elderly patients) and 265 normal controls (130 cases of elderly controls, 135 cases of non-elderly controls) from Zhejiang province. The mutation was analyzed by DNASTAR and Antheprot 5.0 softwares. ResultsThe T3394C mutation of mitochondrial DNA was found in 5 of 90 elderly T2DM patients (5.6%),1 of 130 elderly controls(0.8%), and 2 of 250 non-elderly T2DM patients (0.8%). The incidence of the mutation was significantly different between the elderly T2DM patients and elderly controls(P＜0.05), as well as between the elderly T2DM patients and non-elderly T2DM patients(P＜0.05). The T3394C mutation caused the change of the ND1 protein secondary structure. ConclusionsThe T3394C mutation of the mitochondrial DNA ND1 gene may contribute to the pathogenesis of T2DM in the elderly with other genetic and environment factors.

Objective To study curative efficacy of compound tanshin injection and acupuncture and moxibustion in treatment of peripheral nerve injury its effects on nerve function.Methods 110 patients of peripheral nerve injury whoreceived therapy from April 2014 to September 2014 in our hospital were selected as research objects,according to the treatment were divided into observation group and control group,observation group using curative efficacy of compound tanshin injection,the control group using compound tanshin injection and low frequency dc therapy.Observe clinical efficacy of the two groups after treatment,compared two groups before and after treatment can motor nerve and sensory nerve nerve conduction velocity,and to evaluate the basic function after treatment.Results After treatment,the observation group total effectiveness 94.5％,obviously higher than the control group total effectiveness 81.8％,significant difference(P< 0.05); Observation group after treatment of nerve function was 80.0％,significantly higher than the control group was 60.0％,significant difference(P<0.05); And after the treatment of motor nerve and sensory nerve conduction velocity observation group were significantly higher than the control group,significant difference(P<0.05).Conclusion Curative of compound tanshin injection and acupuncture and moxibustion in treatment of peripheral nerve injury,can significantly improve patients with nerve function,improve the effect of treatment,and no side effect,is worth popularizing in clinic.

Objective To evaluate the clinical value of endoscopically nasojejunal feeding tube placement (ENFTP) for nutritional support in patients with severe acute pancreatitis (SAP). Methods Those SAP patients who treated with ENFTP (n= 47) or with total parenteral nutrition (TPN) (n=50) were retrospectively analyzed for laboratory parameters before and 1,2 and 4 weeks after nutrition support. Outcomes in the two groups were compared with respect to complications,mortality, duration of feeding, feeding costs,mechanical ventilation time and length of ICU or hospital stay. Results Four weeks after nutrition sypport, the hemoglobin and albumin were increased in ENFTP group as compared to TPN groups (P < 0. 05), while the blood sugar was decreased significant in ENFTP group than in TPN group (P<0.05). The incidence of peripancreatic or biliary infection and catheter-related infection were lower in ENFTP group than in TPN group. Duration of feeding and hospital stay were shorter, and nutrition cost was lower in ENFTP group (P<0.05). In addition, the APACHE Ⅱ score was significantly improved in ENFTP group(P<0.05). Conclusion ENFTP seems to be safe and less expensive in treatment of patients with acute pancreatitis.

OBJECTIVE: To study the feasibility and potential benefits of beam angle optimization (BAO) to automated planning in liver cancer. METHODS: An approach of beam angle sampling is proposed to implement BAO along with the module Auto-planning in treatment planning system (TPS) Pinnacle. An in-house developed plan quality metric (PQM) is taken as the preferred evaluating method during the sampling. The process is driven automatically by in-house made Pinnacle scripts both in sampling and scoring. In addition, dosimetry analysis and physician's opinion are also performed as the supplementary and compared with the result of PQM. RESULTS: It is revealed by the numerical analysis of PQM scores that only 15% patients whose superior trials evaluated by PQM are also the initial trials. Gantry optimization can bring benefit to plan quality along with auto-planning in liver cancer. Similar results are provided by both dose comparison and physician's opinion. CONCLUSIONS It is possible to introduce a full automated approach of beam angle optimization to automated planning process. The advantages of this procedure can be observed both in numerical analysis and physician's opinion.
Humans ; Radiotherapy Planning, Computer-Assisted/methods* ; Feasibility Studies ; Radiometry/methods* ; Liver Neoplasms/radiotherapy* ; Radiotherapy, Intensity-Modulated/methods* ; Radiotherapy Dosage

Objective:To investigate the clinical characteristics, laboratory characteristics and genetic diagnosis of aromatic L-amino acid decarboxylase deficiency (AADCD), and to improve the understanding of this disease.Methods:Four children diagnosed with AADCD from the Department of Neurology, Beijing Children′s Hospital Affiliated to Capital Medical University from August 2016 to June 2020 were collected, and their clinical manifestations, laboratory and imaging data, and genetic test results were retrospectively analyzed.Results:All the 4 cases were diagnosed in early infancy, with the first symptom of feeding difficulties. They developed paroxysmal dyspraxia accompanied by eye movement crisis, movement regression, hypotonia, growth retardation, sleep disorders and autonomic nervous symptoms such as ptosis, excessive sweating and nasal congestion at the age of 2-4 months, respectively. The 4 children were siblings from 2 families with healthy parents. The dihydroxyphenylalanine decarboxylase ( DDC) gene mutations in cases 1 and 2 were derived from the maternal missense mutation c.1040G>A(P.RG347gln), and from the paternal deletion of exons 11 and 12, respectively. The DDC gene mutation in case 3 was derived from the maternal mutation c.419G>A(p.G140E) and the paternal mutation c.1375C>T(p.H459Y), respectively. Case 4 did not undergo genetic testing. Blood amino acid and acylcarnitine profiles and urine organic acid analyses were performed in 3 cases, and no specific abnormalities were found. In case 3, the results of 3-O-methyldopa (3-OMD) screening by blood dry filter paper increased significantly. Cerebrospinal fluid neurotransmitter detection results showed that the concentrations of 3-methoxy-4-hydroxyphenyldiol, vanillic acid and 5-hydroxyindoleacetic acid were significantly decreased, while the levels of 5-hydroxytryptophan and 3-OMD were increased in case 3. Blood aromatic L-amino acid decarboxylase (AADC) activity decreased significantly in case 3. Cranial magnetic resonance imaging (MRI) and electroencephalogram (EEG) examinations were performed in cases 1, 3, and 4, among which the cranial MRI in case 1 was normal, while the cranial MRI in cases 3 and 4 suggested that myelination was slightly backward. The EEG was normal in all the 3 cases. Cases 1 and 2 died of pneumonia and respiratory failure at the age of 1 year and 10 months. Case 3 was given clonazepam, benxel hydrochloride tablets and vitamin B6 tablets orally after diagnosis at the age of 4 months, and then treated with selegiline hydrochloride tablets and pramexol hydrochloride tablets. At the follow-up of 1 year and 6 months, the frequency of eye movement crisis and movement disorder was reduced, sleep was improved and autonomic nervous symptoms were alleviated, but there was no improvement in developmental delay. Case 4 was diagnosed with cerebral palsy and epilepsy, but failed various antiepileptic drugs and rehabilitation training, and died at the age of 10 due to heart failure and kidney failure. Conclusions:The clinical manifestations of AADCD are complicated and the misdiagnosis rate is high. Infants with early-onset hypotonia, developmental retardation, eye movement crisis, and movement disorders should be screened with dry filter paper as soon as possible for 3-OMD level, and suspicious cases should be diagnosed by cerebrospinal fluid neurotransmitter detection, plasma AADC activity determination, and gene examination. Early diagnosis of AADCD in children and gene mutation carriers can guide treatment and provide genetic counseling to reduce the incidence of the offspring.

Objective:To characterize the histopathological subtypes and their clinicopathological parameters of gender and onset age by common, rare and sparse primary esophageal malignant tumors (PEMT).Methods:A total of 272 437 patients with PEMT were enrolled in this study, and all of the patients were received radical surgery. The clinicopathological information of the patients was obtained from the database established by the State Key Laboratory of Esophageal Cancer Prevention & Treatment from September 1973 to December 2020, which included the clinical treatment, pathological diagnosis and follow-up information of esophagus and gastric cardia cancers. All patients were diagnosed and classified by the criteria of esophageal tumor histopathological diagnosis and classification (2019) of the World Health Organization (WHO). The esophageal tumors, which were not included in the WHO classification, were analyzed separately according to the postoperative pathological diagnosis. The χ 2 test was performed by the SPSS 25.0 software on count data, and the test standard α=0.05. Results:A total of 32 histopathological types were identified in the enrolled PEMT patients, of which 10 subtypes were not included in the WHO classification. According to the frequency, PEMT were divided into common (esophageal squamous cell carcinoma, ESCC, accounting for 97.1%), rare (esophageal adenocarcinoma, EAC, accounting for 2.3%) and sparse (mainly esophageal small cell carcinoma, malignant melanoma, etc., accounting for 0.6%). All the common, rare, and sparse types occurred predominantly in male patients, and the gender difference of rare type was most significant (EAC, male∶ female, 2.67∶1), followed with common type (ESCC, male∶ female, 1.78∶1) and sparse type (male∶ female, 1.71∶1). The common type (ESCC) mainly occurred in the middle thoracic segment (65.2%), while the rare type (EAC) mainly occurred in the lower thoracic segment (56.8%). Among the sparse type, malignant melanoma and malignant fibrous histiocytoma were both predominantly located in the lower thoracic segment (51.7%, 66.7%), and the others were mainly in the middle thoracic segment.Conclusion:ESCC is the most common type among the 32 histopathological types of PEMT, followed by EAC as the rare type, and esophageal small cell carcinoma and malignant melanoma as the major sparse type, and all of which are mainly occur in male patients. The common type of ESCC mainly occur in the middle thoracic segment, while the rare type of EAC mainly in the lower thoracic segment. The mainly sparse type of malignant melanoma and malignant fibrous histiocytoma predominately occur in the lower thoracic segment, and the remaining sparse types mainly occur in the middle thoracic segment.

Objective: To describe the clinical manifestations of central nerve system inflammatory demyelinating disease associated with anti-myelin oligodendrocyte glycoprotein antibody (MOG-IDD) in children, and to explore the clinical characteristics of the children. Methods: The clinical and laboratory characteristics of the patients diagnosed in Beijing Children′s Hospital, Capital Medical University, from October 2016 to August 2018 were described, and the clinical data of the patients with unipolar and recurrent diseases were compared. Results: A total of 50 patients were included, among whom the ratio of male to female was 24:26, and the average age of onset was (6.7±3.1) years old (0.4-12.6 years old). There was no significant difference in the age of onset between boys and girls(t=0.712, P=0.480). The main symptoms included fever (31/50 cases), encephalopathy (26/50 cases) and optic neuritis (22/50 cases), etc.In the last follow-up, 26 patients (52.0%) had a monophasic course and 24 patients (48.0%) had a recurrent course.There were age differences in encephalopathy and ataxia in the first episode of [(5.7±2.8) years old vs.(8.1±3.0) years old, (5.0±2.5) years old vs. (7.7±3.0) years old](t=2.746, P=0.009; t=2.837, P=0.007). The average number of recurrence was (2.1±1.4) times (1-7 times), in which 17 cases (70.8%) of recurrence presented within 12 months and 20 cases (83.3%) of recurrence presented within 24 months after onset.Convulsion incidences of recurrent cases were 10 cases and 13 cases respectively in the first episode and recurrent courses, which were significantly higher than those of monophasic cases (4 cases, 4 cases)(χ²=7.912, P=0.005; χ²=8.365, P=0.004). All patients were sensitive to first-line immunotherapy.Seven patients with recu-rrence were treated with mycophenolatemofetil, and 17 patients with repeated first-line therapy.In the last follow-up, all patients were in remission and 2 patients had mild neurological dysfunction. Conclusions MOG-IDD can occur in childhood.Encephalopathy and optic neuritis are the most common symptoms.Encephalopathy and ataxia are more common in young children.Convulsions may indicate the course of recurrence.