Objective To evaluate three compartments of mediastinal anatomy in the diagnosis of space occupying lesions. Methods CT images of 78 mediastinal lesions confirmed by surgery or/and pathology were retrospectively studied. Results According to the occurrence ratio of occupying lesions, anterio superior mediastinal lesions were lymphadenovarix, thymoma, teratoblastoma, and intrathyroma, etc. In anterio inferior mediastinum, heart tumors, teratoblastoma, fatty tumor were found successively. Posterior mediastinal lesions were lymphadenovarix, neurogenic tumors, esophageal tumors, tracheo broncheal tumors, aneurysms, diaphrageal herniation and so on. Conclusion The results suggested that the mediastinal three compartments protocol was more terse and practical than others in the diagnosis of space occupying lesions before operation.

Objective To investigate the feasibility and plan quality of the image-guided volumetric modulated arc therapy (VMAT) based voluntary deep exhale breath-holding technique in the stereotactic ablative body radiotherapy (SABR) for liver tumors.Methods Fifteen patients with liver tumors were involved in this study.All patients were immobilized with voluntary deep exhale breath hold (vDEBH) combined with real-time position management (RPM) respiratory gating system.Treatment was planned using VMAT with 2 modified partial arc and re-planned using intensity modulated radiation therapy (IMRT) technique for comparison.Dosimetric parameters were calculated for plan quality assessment.Quality assurance studies included absolute dose and multiple planar dose verifications,total monitor units and delivery time analysis.Daily cone beam computed tomography imaging was used to verify the motions.Results There were no significant dosimetric differences between VMAT and conventional IMRT plans (P ＞0.05).Both techniques were able to minimize doses to organs at risk including normal liver,kidneys,spinal cord,and stomach.However,the average monitor units with VMAT were significantly lower 28.1％ than those with IMRT(t =3.064,P ＜0.05).The average beam-on time in VMAT plans was 31.6％ shorter than that in IMRT plans(t =2.278,P ＜ 0.05).Conclusions The utilization of VMAT in the treatment planning of SABR for liver tumors under breath control mode has better dosimetrics.In comparison to conventional IMRT plans,VMAT plans have higher efficiency and feasibility.

Objective To construct a stable infectious clone of S191 virus strain used for the pro-duction of live attenuated measles vaccine. Methods Full length cDNA of S191 strain and gene fragments encoding nucleocapsid(N),phosphoprotein(P)and RNA polymerase(L)were synthesis and respectively cloned into the vector pVAX1. The 293T cells were respectively transfected with the recombinant expression plasmids and co-cultured with Vero cells. The supernatants of cell culture were collected for identifying res-cued viruses. The indirect immunofluorescence assay was performed for virus identification. The rescued viruses at different passages in Vero cells and the sequences of the rescued viruses were analyzed. Results Restriction enzyme digestion and sequence analysis showed that the recombinant expression plasmids contai-ning the full length cDNA with an artificially engineered mutation at nucleotide 2101(C-A)and gene frag-ments encoding N,P and L proteins of S191 strain were constructed successfully. The N and P proteins were detected in Vero cells with immunofluorescence assay. A cytopathogenic effect on Vero cells was induced by rescued viruses. Conclusion The stable infectious clones of S191 virus used for the production of live at-tenuated measles vaccine were rescued successfully. An approach by using reverse genetics technique for S191 strain study was established which could be used for the development of new chimeric vaccines against measles virus.

Objective To investigate the clinical, biochemical and genetic features of a Chinese boy with holocarboxylase synthetase deficiency (HCSD). Methods The clinical and genetic data of a rare case of HCSD were retrospectively analyzed. Results After birth, the boy showed development delay. At 3 months old, the boy was started with rehabilitation. Tandem mass spectrum and gas chromatography analysis was carried in the 5th month after birth because of the recurrent upper respiratory tract infection and elevated level of C5-OH in the blood and decreased level of C0,and elevated level of 3-OH-propionic, pyruvic acid, methylcrotonylglycine in the urine were in accordance with the HCSD. Genetic analysis found compound heterozygous mutations of c.1648G>A and c.1544G>A in gene, of which the latter one is novel. After the treatment of biotin (20 mg/d) and L-Carnitine, the condition of this boy was gradually improved. Conclutions HCSD is characterized with slow onset and inconspicuous manifestations. The confirmed diagnosis can be built with MS/MS, GC/MS analysis and gene mutation analysis. The effect of early biotin treatment is satisfactory. In this study,we carried out clinical and genetic diagnosis,which lays a solid foundation for prenatal diagnosis and early treatment.

Objective To explore the clinical features, diagnosis, and treatment of congenital disorder of glycosylation type 1a (CDG-Ⅰa), a rare inherited metabolic disease. Methods The clinical data and the gene detection results of one case of CDG-Ia which was discovered because the case had encephalopathy and hepatopathy were retrospectively analyzed. The related literatures were reviewed. Results Male infant suffered with face and trunk rash, motor development retardation, malnutrition, cheek fat plump, low limbs muscle tone, and bilateral crater nipple at 3 months old. Abnormal liver function and mild renal impairment were found after examination. The development quotient was low. Head MRI showed that bilateral frontal and temporal sulcus widening, and cerebellar atrophy. Urinary organic acids, amino acids, carnitine, and biotin activities were normal. Gene sequencing revealed that there were two heterozygous mutations, c.430T>C (p.F144L) and c.713G>C (p.R238P), in the PMM2 gene. The diagnosis of CDG-Ⅰa was confirmed. Both of the infant's parents were healthy, and each of them carries a pathogenic mutation. The infant had an elder brother who had mental disorder and died for liver and kidney function damage and hydronephrosis at 8 months old. Conclusion CDG-Ⅰa is an autosomal recessive disease. For infants with unexplained multiple organ damage, especially combined with intelligent and motor development retardations, strabismus, nipple retraction, and cerebellar atrophy, the possibility of CDG-Ⅰa should be considered. Gene detection of PMM2 can help the diagnosis.

Objective To evaluate the performance of a customized vacuum-form body immobilization method in the radiotherapy of pelvic malignancies by comparing it with conventional approaches, thus to improve immobilization accuracy in the radiotherapy of pelvic malignancies. Methods A total of 66 patients with pelvic malignancies were enrolled in this study. These patients were divided into three groups according to three immobilization approaches: radiotherapy board ( Group N ) , conventional vacuum cushion ( Group V ) , and a customized vacuum cushion specifically for pelvic immobilization ( Group New-V) . Setup deviations of these immobilizations were comparatively evaluated by translational and rotational errors during intra-fractional measurements. Results The average translational setup errors in vertical(x), longitudinal(y), lateral(z) and rotational error r were (0. 35 ± 0. 37), (0. 21 ± 0. 22), (0. 29 ± 0. 28) cm and (0. 70 ± 0. 65)° for Group New-V; (0. 44 ± 0. 43), (0. 31 ± 0. 62), (0. 45 ± 0. 60) cm and (1. 25 ± 1. 00)° for Group N; (0. 38 ± 0. 36), (0. 27 ± 0. 25), (0. 32 ± 0. 29) cm and (1. 09 ± 0. 77)° for Group V, respectively. Significant differences were observed in r direction among these three method (F=7. 859,P <0. 05). Group New-V with customized cushion showed the least standard deviations in four directions and the least setup error in r direction compared with the other two method (F=3. 166,P<0. 05). Reconstructed dose distribution based on the isocenter shift result ed from setup errors revealed that Group New-V showed the least deviations in the minimum and mean dose and of the planning target volume (PTV) before and after isocenter shift(F=8. 018, P<0. 05). Conclusions The customized vacuum cushion provided best immobilization and dosimetric advantage. It helps to optimize the immobilization accuracy and improve the clinic outcome potentially.

Objective To analyze the radiation dose to contra-lateral breasts and estimate the incidence risk of contra-lateral breast cancer for women undergone unilateral breast cancer radiotherapy.Methods The radiation doses of contra-lateral breasts for 49 patients were counted and analyzed in a hospital,and the risk of contra-lateral breast cancer in different age groups that induced by radiotherapy was estimated based on BEIR Ⅶ model combined with the Chinese lifetime table.Results The prescribed doses for the patients were all 50 Gy.The mean dose to contra-lateral breasts ranged from 0.14 Gy to 3.59 Gy,with an average of (1.21 ±0.89) Gy,and the maximum point dose varied from 0.98 Gy to 45.27 Gy,with the average of (17.42 ±13.20) Gy.Both the maximum point dose and the mean dose obviously varied among the patients,and their correlation was significant (R =0.527,P =0.000).Furthermore,no significant differences of the mean dose was found among the ages (P ＞ 0.05).The lifetime attribute risks of contra-lateral breast cancer were estimated to be 2 449,1 857,994,446,173 and 55 for per 100 thousand women corresponding to the ages of 35,40,50,60,70 and 80,respectively.Conclusions In the radiotherapy for unilateral breast cancer,the dose delivered to the contra-lateral breast is about 1 Gy order of magnitude,the risk of contra-lateral breast cancer cannot be ignored for young women.Therefore,the irradiation dose of contra-lateral breasts should be controlled as less as possible in planning the treatment.

Intellectual disability is a common disease in children′s nervous system, which seriously endangers children′s physical and mental health.The etiology of the intellectual disability is complex, and many genetic and environmental factors are involved in the process of it.Inherited metabolic disorders are an important cause of the disease.With the improvement of diagnosis and treatment level, the clinical outcome of children with inherited metabolic disorders can be greatly improved after early diagnosis and treatment.Therefore, it is of great significance for guiding the treatment, prognosis and reproduction of patients to identify the inherited metabolic disorders that lead to intellectual disability in time and as early as possible.Now, the known inherited metabolic disorders that lead to intellectual disability, such as phenylketonuria, mitochondrial disease, urea circulatory disorder, creatine deficiency syndrome, and lysosomal storage syndrome, etc, are summarized, which are helpful to understand its clinical characteristics and improve the clinical recognition.

Objective Mitochondrial DNA depletion syndrome is a rare autosomal recessive disorder characterized by complex genetic and clinical manifestations.This study aimed to investigate the clinical and laboratory features of a boy with mitochondrial encephalomyopathy caused by SUCLG1 mutation.Methods The clinical data and genetic test of a patient with mitochondrial DNA depletion syndrome were retrospectively analyzed.Result The proband presented with limb weakness at the 4th month after birth,and presented dystrophic appearance,muscular hypotonia,psychomotor retardation,failure to thrive,hearing impairment,scoliosis,thoracocyllosis and facial features at 9 months old.Laboratory tests showed blood lactic acid and pymvate increased,liver damage and abnormal myocardial enzymes.Plasma camitine ester profiling showed that amino acids decreased and C4-dicarboxylic-carnitine increased.Urinary organic acid analysis showed increased concentration of methylmalonic acid and its metabolites indicating methyl malonic aciduria.MRI showed bilateral T2 hyperintensities in bilateral caudate nuelei and lenticular and brain atrophy-like changes.Brainstem auditory evoked potential showed severe hearing loss.His development quotient was 35.Genetic sequencing of MUT,,MMAA,MMAB and other classic mitochondrial disease related genes of the proband revealed no mutation.Two heterozygous mutations,c.961C＞G and c.713T＞C,inherited from the phenotype of normal parents were detected in his SUCLG1 gene.The copy number of mitochondrial DNA was 244/cell in peripheral blood leukocytes,equivalent to 68.4％ of that in normal control.Conclusion In this study,an infant with muscular hypotonia,psychomotor retardation,deafness and slightly increased urine methyl malonic acid was diagnosed by genetic test.For patients with unexplained hypotonia,mental retardation,abnormal movements,hearing disorder together with increased blood pyruvic acid and lactic acid,mild methylmalonic acidemia and abnormal acylcarnitine,mitochondrial DNA depletion syndrome should be considered.Gene analysis is important for diagnosis and prenatal diagnosis of the next pregnancy.

Objective:To analyze the neurodevelopmental characteristics of the children with methylmalonic acidemia and investigate its possible influencing factors.Methods:The clinical questionnaire was used to collect clinical data of children with methylmalonic acidemia at the First Affiliated Hospital of Henan University of Chinese Medicine from February 2016 to February 2018, and Gesell development scal was used to evaluate the neurodevelopment.Results:Among the 86 patients, 45 cases were boys and 41 cases were girls.They were 2.4 to 62.5 months, and the minimum age was 8.3 months.Thirty-three cases were detected by neonatal screening, 53 cases were diagnosed after onset.The energy zone in this children were mild to severe developmental defects.Twenty-eight cases were 0 to 6 months old, and fine exercise, the large exercise and adaptability developmental defects were significant of them; 24 cases were >6 to 12 months old, and the language, adaptability and personal-social developmental defects were significant of them; 23 cases were >12 to 36 months old, and the language, adaptability and large movements developmental defects were significant of them; 11 cases aged >36 to 72 months had significant developmental defects in language, personal-social contact and adaptability.The developmental quotients of fine movements, big movements, adaptability, personal-social and language of the children diagnosed by newborn screening were much better than those diagnosed after onset in each energy zone(all P<0.05). Conclusions:Although the treatment is actively regulated, most children with methylmalonic acidemia still have neurodevelopmental abnormalities with varying degrees of severity.The children before the age of 6 months have significant defects in motor movement and adaptability development.The patients after the age of 6 months usually have language, adaptability and social contact defects.Newborn screening is important and nervous system damage is milder in the children diagnosed by newborn screening.