Objective To investigate the advantages and efficacy of traction with titanium clips in endoscopic submucosal dissection(ESD)for large laterally spreading tumor(LST)in rectum and sigmoid colon.Methods 67 patients with large sigmoid or rectal LST underwent ESD from January 2018 to June 2022 were analyzed retrospectively,including 32 patients in Group A and 35 patients in Group B.Group A was treated with clip-line traction and group B was treated with traditional ESD.The size of lesion,the total operation time,the submucosal dissection time,submucosal dissection rate,submucosal injection number,en bloc resection rate,R0 resection rate,curative resection rate and complications of the two groups were compared.Results LST-G-M was the most common type and villous adenoma was the main pathology in both groups.There were no differences in en bloc resection rate,R0 resection rate and incidence of complications between the two groups.The average size of group A was(13.6±8.4)cm2,significantly larger than that in group B(9.3±4.7)cm2,the total operation time was(42.3±10.3)min in group A,significantly shorter than that in group B(47.9±10.1)min,submucosal dissection time was(30.7±8.2)min in group A,significantly shorter than that in group B(36.1±7.6)min,submucosal injection number was(2.7±1.1)times in group A,significantly less than that in group B(3.5±1.2)times,submucosal dissection rate was(0.4±0.2)cm2/min in group A,significantly faster than that in group B(0.2±0.1)cm2/min,the differences were statistically significant(P<0.05).Conclusion Compared with traditional ESD,clip-line traction can provide a better surgical field and more effective dissection for large LST in rectum and sigmoid colon.

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.

Objective To explore the phenotype and genotype of mitochondrial DNA depletion syndromes (MDS) in Chinese children.Methods The clinical and genetic data of 12 MDS patients (8 were boys and 4 were girls) diagnosed in the Department of Neurology in Beijing Children's Hospital,Capital Medical University from October 2010 to April 2018 were retrospectively collected and analyzed.Results The developmental milestones were normal or mildly retardated before disease onset.The age of onset ranged from 0 to 2.9-year-old.Most cases developed postnatal or after infection.The most common initial symptoms were feeding difficulty,seizure,muscle weakness,psychomotor regression and hepatic dysfunction.At the last evaluation,all the patients had developmental retardation,failure to thrive,muscle weakness,and dysphagia.Other clinical features were weight loss (9 cases),hearing impairment (7 cases),ptosis (6 cases),seizure (5 cases),dyspnea (4 cases),visual impairment (1 case),hirsutism (1 case),lactic acidosis (7 cases),elevated hepatic enzymes (4 cases) and creatine kinase (2 cases),elevated protein in cerebrospinal fluid (3 cases),abnormalities on screening for inborn error of metabolism (10 cases) and brain magnetic resonance imaging (MRI) (10 cases),abnormal electromyogram (including neurogenic or myogenic injury) (5 cases).Five patients died of infection or multiple organ failure.A total of 18 novel mutations presented below were detected in these patients.Among the 6 cases of encephalomyopathy,there were 3 with SUCLG1 mutation (c.916G＞T,c.619T＞C,c.980dupT were novel),2 with SUCLA2 mutation (c.851G＞A,c.971G＞A were novel),and one with RRM2B mutation (c.456-2A＞G,c.212T＞C were novel).All the cases of hepatic encephalopathy all had POLG mutations (c.3151G＞A,c.2294C＞T,c.2858G＞C,c.680G＞A and c.150_158delGCAGCAGCA were novel).Two cases of infantile-onset spinocerebellar ataxia had TWNK mutations (c.1163C＞T,c.1319T＞C,c.1388G＞A and e.257_258delAG were novel).One case of myopathy had TK2 mutations (c.557C＞G and c.341A＞T were novel).Conclusions The clinical and genetic features of MDS were heterogeneous.Eighteen novel mutations in six MDS related genes were reported,which expanded the genetic spectrum of MDS in Chinese children.

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 complexⅠwere 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 build prenatal health education programs for primiparities and their spouses based on the concept of flipped classroom.Methods Expert questionnaires for prenatal health education programs for primiparities and their spouses based on the concept of flipped classroom were prepared by searching for original literatures from international and domestic databases. The Delphi method was used to investigate a total of 50 obstetrics experts from 18 ClassⅢ hospitals from Shandong province for two rounds. Results The concentration degree of these experts' opinions was high with an authority coefficient of 0.956 and a familiarity coefficient of 0.958, the determination coefficient was 0.954; the coordination coefficients for primary, secondary and tertiary indicators were 0.617, 0.423 and 0.391, respectively. The final health education program included 2 primary indicators, 11 secondary indicators and 55 tertiary indicators. Conclusions The experts' opinions on the prenatal education program for primiparities and their spouses are consistent. The program is highly scientific and reliable, which provides reference for prenatal health education for primiparities and their spouses based on flipped classroom.

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 explore the effects of continuing nursing health education on postoperative rehabilitation of patients with gastric cancer. Methods A total of 98 cases of patients with gastric cancer radical were selected from December 2011 to December 2012 in our hospital according to the random number table method and were divided into observation group and control group. The patients of control group were given routine nursing, while the patients of observation group were given continuity of nursing health education based on the control group. We evaluated self satisfaction after nursing intervention of pain control, and assessed the score of self-rating anxiety scale ( SAS) , self-rating depression scale ( SDS) and quality of life self-rating scale. Results After intervention in the intervention group, the patients′ satisfaction to pain control method, to pain control education and all care, and family satisfaction scores were (42. 15 ± 14. 21), (44. 26 ± 13. 2), (16.69 ±2.20), that all were higher than these of the control group (t=3. 658, 5. 698, 4. 265; P<0. 05). Before the implementation of continuity of nursing health education, two groups of patients with SAS scores and SDS scores and the patient′s appetite, sleep quality and mental status, level of understanding of cancer, family understanding and cooperation, and daily life six dimensions related to the pain and psychological differences had no statistical significance (P>0. 05);continuity of nursing health education after implementation, the SAS scores and SDS scores were (30. 58 ± 8. 64), (35. 21 ± 9. 02) in the observation group that all were obviously lower than these of the control group (t=2. 245, 2. 014;P<0. 05); after the intervention group in appetite, sleep quality and mental status, the understanding of cancer, family understanding and cooperation, the score in the daily life were (3. 52 ± 0. 78), (4. 36 ± 1. 25), (3. 92 ± 1. 14), (4. 25 ± 0. 42), (3. 78 ± 0. 87), (4. 21 ± 0. 62);in six dimensions, related to the pain and psychological in the observation group were better than those of the control group (t=3. 145, 2. 896, 3. 859, 5. 697, 4. 021, 4. 256; P<0. 05). Conclusions Continuity nursing health education can reduce gastric cancer patients with postoperative pain and the degree of anxiety and depression patients, improve the patient′s quality of life and is good for stomach cancer patients with postoperative recovery.

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.