Objective To study the influence of CTP-OD1-HA and CTP-OD2-HA fusion peptides and combined with imatinib on proliferation of K562 cells.Methods K562 cells were treated with CTP-OD1-HA and CTP-OD2-HA peptides or together with imatinib.The proliferation of cells were detected and compared by MTT and clone formation methods.Results MTT examination demonstrated that CTP-OD1-HA and CTP-OD2-HA peptides could inhibit the proliferation of K562 cells,and the effect was more obvious when acted along with imatinib;Clone formation showed that CTP-OD1-HA and CTP-OD2-HA peptides suppressed the continuous colony forming ability of K562 cells.Conclusion CTP-OD1-HA and CTP-OD2-HA could specially inhibit the proliferation of K562 cells,and increase the sensitivity of imatinib.

Objective To summarize the clinical experience of segmental living related liver transplantation for very small infant with biliary atresia. Methods The recipient was a 145-day-old male with congenital biliary atresia. The infant was 66 cm in height and weighed 3.08 kg. The donor was his 36-year-old mother. Her segment Ⅱ of the liver was excised and orthotopically transplanted into the infant's body as the graft. The portal vein of the graft was end-to-end anastomosed to the portal vein of the recipient, the hepatic artery of the graft was end-to-end anastomosed to the proper hepatic artery of the recipient with lateral superficial vein of left great saphenous vein from donor as a bridge, and the hepatic vein was end-to-end anastomosed to the hepatic vein of the recipient whose hepatic vein was conformed from right, middle and left hepatic vein. Biliary tract was reconstructed via Roux-en-Y operation. Results Segment Ⅱ (160 g) of liver from donor was resected, and there was no blood infusion. The donor retained her liver function within 5 days and was discharged on the eighth day. The operating time of graft implantation was 451 min. The blood loss was 250 ml. Non-liver stage was 71 min. The cold ischemic time was 132 min. Cyclosporine, mycophenolate mofetil (MMF) and prednisone were used for postoperative immunosuppression. The bilirubin level of the infant was decreased to the normal level one week after operation, and the liver function became normal in 9 days. Jejuno-leakage on the 7th day after the transplantation was recovered by mend and drainage and discharged on the 35th day. The donor and recipient were in satisfactory condition to present. Conclusion The segmental living related liver transplantation is advisable for very small infant with biliary atresia. Perfect operative technique and postoperative intensive care are the keys to ensure the success of the procedure.

Objective To evaluate the effect of the dimethicone powder in bowel preparation before capsule endoscopy (CE) and to observe its possible adverse effects. Methods A total of 60 patients receiv-ing CE were prospectively randomized into 2 groups according to bowel preparation method. In dimethicone powder group, patients were arranged to take dimethicone powder 30 rain before the examination on basis of macrogol electrolytes powder and in control group, patients had macrogol electrolytes powder only. Images of small intestine were equally divided into segments A, B and C according to intestinal transit time, and re-viewed by 2 experienced physicians independently. Intraluminal gas bubbles were graded and any possible adverse effects were monitored. Results Interobserver agreement was excellent (P < 0.05). In segments A and C, images from dimethicone powder group were less interfered by gas bubble than those from control group (P < 0. 05), but in segment B there was no difference between 2 groups (P > O. 05). No adverse effects were observed. Conclusion The dimethicone powder administration before capsule endoscopy im-proves the visualization of the intestinal mucosa.

Objective To investigate the cause of jejunum perforation after infantile livingrelated liver transplantation (ILRLT) and summarize the experience of treatment. Methods The clinical data of 28 infants with biliary atresia who underwent ILRLT were analyzed and 4 of 28 infantile recipients (14. 3%) developed jejunum perforation after ILDLT. Results Four patients had 7 episodes of jejunum perforation after transplantation among 28 infantile recipients who underwent ILRLT because of biliary atresia. The median time between transplantation and perforation was 11 days.Perforation occurred at the point of silk in jejunum stoma (n = 3) and the Roux-en-Y limb (n = 1 ).None had a history of prior operation including Kasai in 4 patients. Clinical manifestation included fever, increased heart rate, abdominal distention, leukocytosis, and no free air on abdominal roentgenograrns. A simple repair was performed in three infants with silk: two developed recurrent perforation (67%) and underwent a re-exploration,and another had a third perforation and underwent a third repair because of re-perforation. Another child underwent a simple repair with prolene, and there was no recurrence. None died from the perforation in our study. Conclusion The occurrence and location of jejunum perforation after ILDLT suggests that the cause of the perforation is related to the jejunal anastomosis with silk, and the jejunum perforation may be avoided in the jejunal anastomosis with prolene. Early diagnosis and exploration may ensure better survival.

Objective To summarize the clinical experience of successful liver transplantation from infant donation after cardiac death (DCD) for infant with biliary astresia (BA).Methods The donor was a 16-months-old girl with a body weight of 10 kg,who died of irreversible anoxic cerebral damage after sudden asphyxiation.The recipient was a 24-months-old girl with a body weight of 12 kg,who suffered from icteric concurrent late biliary cirrhosis after the Porta-jejunum anastomosis because of congenital BA.The DCD liver was classically orthotopically transplanted into the infants recipient.The warm ischemia time was 7 min,the cold ischemia time was 360 min,and the graft volume to the standard liver volume (GV/SLV) was 1.02.After operation,the vital signs and transplanted liver function of the recipient were monitored,and the recipient was given treatments of anti-infection,anticoagulation,and improving the microcirculation.The recipient was treated with the triple immunosuppression protocol of tacrolimus,mycophenolate and prednisone to prevent rejection.Results The operating time of the recipient was 480 min,the non-liver stage was 65 min,and the blood loss was 230 mL.The endotracheal intubation was removed from the recipient at 12 h,and the recipient started to eat at 48 h aftcr operation.The recipient had a hepatic artery thrombus on the 3rd and 15th day after operation,and the hepatic artery had re-blood-supply after the hepatic artery catheterization and continuous perfusion with urokinase.The recipient was discharged on the 42nd day,and the recipient was in satisfactory condition to present.Conclusion The infant DCD liver is a better graft for infant liver transplantation for BA.The surgical complications can be reduced with matched volume of donor-recipient liver; and it can guarantee a successful operation with perfect operative technique and careful perioperative management.

Objective:To describe the clinical features of pediatric biotinase deficiency (BTD) manifested as spinal cord disease.Methods:The clinical data of a child with spinal cord lesions due to biotinase deficiency, diagnosed in Beijing Children′s Hospital in 2020, were collected. The cases with complete clinical data retrieved on literature reported in China National Knowledge Infrastructure, Wanfang Data knowledge Service Platform and PubMed (up to August 2021) by using search terms of biotinase deficiency, pediatric, spinal cord, myelopathy and myelitis were summarized.Results:The patient was a 3 years and 5 months old boy with the main clinical manifestations of subacute progressive limb weakness and wheezing. Physical examination showed sparse hair, rough skin, spastic paraparesis and developmental delay. Cerebrospinal lactic acid was increased (5.67 mmol/L). Cranial magnetic resonance imaging (MRI) showed diffuse T 2/fluid attenuated inversion recovery hyperintensity of the midbrain, dorsal pons, edulla, periacqueductal grey and optic tracts. Spinal cord lesions were extended from the medulla up to the level of the conus. Urineketone bodies and 3-hydroxyisurate were increased. The activity of biotinidase was 0.27 pmol/min (3 mm disc), being 7% of mean normal serum activity. Genetic studies revealed homozygous mutation in the BTD gene [c.284T>A (p.I95N)]. After biotin supplementation for 6 months, the only evident abnormality was residual spasticity of lower limbs. Fourteen English literatures and 2 Chinese literatures including 18 cases were collected. The onset age was from 2 months to 15 years (median age was 4 years). Among them, 11 cases had cranial MRI abnormalities, of which all involved brain stem, 6 cases involved optic tracts and (or) optic chiasm. All 18 cases had spinal cord MRI abnormalities with longitudinally extensive lesion, mostly involved cervical and thoracic spinal segments, and 3 cases involved all spinal segments. Twelve cases received immunotherapy, and 6 were partially improved, 6 were completely invalid. After biotin supplementation, 12 patients had neurological disability. Conclusions:BTD should be included in the differential diagnosis of subacute myelopathy, regardless of the onset age. Early diagnosis and treatment can prevent irreversible neurological damage.

Objective: To summarize the clinical and genetic characteristics of children with mitochondrial epilepsy. Methods: Clinical data of 62 children who were clinically and genetically diagnosed with mitochondrial epilepsy by the Department of Neurology, Beijing Children′s Hospital from October 2011 to December 2018 were analyzed retrospectively, and the control of epilepsy was followed up. T test or χ² test were used to analyze the related factors affecting the prognosis of epilepsy between the effective group and the ineffective group. Results: Of the 62 patients, 33 were male and 29 were female. The age of onset was 3.38 (0-12.00) years; for the type of seizures, 68% (42/62) of the patients had focal seizures, generalized or secondary generalized tonic-clonic seizures were seen in 32% (20/62), myoclonic seizures in 23% (14/62), spastic seizures in 7 cases, tonic seizures in 4 cases, absence seizure, atonic seizure and clonic seizure in 1 case each; 16 cases (26%) had status epilepticus, of whom 6 cases had epilepsia partialis continua; 52% (32/62) had 2 or more types of seizures. The clinical phenotypes were mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) in 29 cases, Leigh syndrome (LS) in 11 cases, combined oxidative phosphorylation deficiency in 6 cases, myoclonus epilepsy with ragged-red fibers in 5 cases, Alpers syndrome in 4 cases, pontocerebellar hypoplasia type 6 and mitochondrial DNA depletion syndrome 9 in 2 cases each, mitochondrial complex Ⅰ deficiency nuclear type 20, progressive cavitating leukoencephalopathy, and biotinidase deficiency in 1 case each. Of the 62 cases, 40 cases (65%) had mitochondrial DNA (mtDNA) variations, of which 26 cases had m.3243A>G variants, 6 cases had m.8344A>G variants, and 3 cases had m.8993T>G/C variants, m.3271T>C, m.3481G>A, m.3946G>A, m.13094T>C, m.14487T>C variant was in 1 case each; nuclear DNA (nDNA) variations were identified in 22 cases (35%), of which 7 cases carrying variations in mitochondrial ammonia acyl tRNA synthetase coding gene, mutations in POLG and the gene encoding complex Ⅰ were in 4 cases each, variations in SUCLG1 and SDHA genes were in 2 cases each, and variations in PDHA1, BTD and TRIT1 genes were in 1 case each. Forty-three patients were followed up, and the follow-up time was 20 (3-84) months. According to the follow-up results, the anti-epilepsy treatment was effective in 19 cases (44%) and ineffective in other 24 cases (56%). The onset age of the effective group was 3.42 (0-11.50) years and that of the ineffective group was 0.92 (0-9.50) years. The onset duration of the effective group was 0 (0-7.00) years and that of the ineffective group was 0 (0-4.83) years. There was no significant difference between the effective group and the ineffective group (t=1.662, 0.860; P=0.104, 0.395). In the effective group and the ineffective group, 12 cases and 9 cases used less than 2 kinds of antiepileptic drugs, 7 cases and 15 cases used more than or equal to 2 kinds of antiepileptic drugs, 13 and 15 cases had first epilepsy, 6 and 9 cases had non-first epilepsy, 14 and 11 cases had mtDNA variation, 5 and 13 cases had nDNA variation, respectively. There was no significant difference between the two groups (χ²=2.794, 0.164, 3.380; P=0.095, 0.686, 0.066). Conclusions The types of seizures with mitochondrial epilepsy in children varied, with focal motor seizures being the most common, followed by generalized or secondary generalized tonic-clonic seizures. Most children have more than two types of seizures. MELAS is the most common clinical phenotype, followed by LS; mtDNA variation is the dominant gene variation, of which m.3243A>G variation is the most common hotspot variation, followed by gene variation encoding mitochondrial aminoacyl tRNA synthase.

Objective: To investigate the clinical significance of different samples (the peripheral blood, urine and skeletal muscle) that could be detected the large-scale single deletions directly by using next-generation sequencing in the diagnosis of Kearns-Sayre syndrome (KSS) by concluding the clinical and genetic features of KSS, in order to explore a non-invasive method for diagnosis. Methods: The clinical data, skeletal muscle′s pathology and enzymology and genetic results of individuals with KSS, who were hospitalized from October 2016 to October 2017 in Department of Neurology, Beijing Children′s Hospital, Capital Medical University, were collected.The gene tests were performed by using next generation sequencing technology and long-PCR technology of mitochondrial DNA(mtDNA) and the whole exon in the peripheral blood, urine and skeletal muscle. Results: Four patients were all consistent with the diagnosis criteria of KSS, among whom the age of onset was 8.2 years old on average, and the initial symptoms were statue, ptosis, headache and vomiting, and visual impairment.The common symptoms of the 4 cases were ophthalmoplegia, exercise intolerance, development delay, loss of appetite, hypotonia, muscle weakness, with cerebrospinal fluid protein concentration over 1 000 mg/L, the cerebral magnetic resonance imaging showed that abnormal signals in the brainstem, in addition, white matter, thalamus, basal ganglia, cerebrum and cerebellum atrophy could be found.Moreover, 3 cases had cardiac conduction block.Two cases had maternal family history.Molecular analysis of the 4 cases revealed the large-scale single deletions of mtDNA from the peripheral blood, the urine, the skeletal muscle through the next-generation sequencing, which were m. 6460-15590(9 131 bp del), m.8482-13446(4 964 bp del), m.6831-14981(8 151 bp del), m.7983-15495(7 513 bp del), respectively.Among 3 cases who did pedigree analysis, only the mother of case 4 was detected with the same variation of the proband. Conclusions KSS is a rare mitochondrial disease, which could be detected with the single large scale mtDNA deletions in the peripheral blood, urine and skeletal muscle.With the development of the methodology, the diagnosis of KSS maybe no longer than depends on the muscle biopsy with the next-generation sequencing.And the possibility to get the positive results in the peripheral blood and urine by the non-invasive method could improve the molecular diagnosis of KSS.