Objective To investigate the efficacy and prognostic risk factors of ALL-R-2003 protocol in the treatment of relapsed childhood relapsed acute lymphoblastic leukemia (ALL) in single center. Methods A retrospective study of clinical data of 51 children with relapsed ALL from January 2004 to December 2014 was performed by using SPSS version 19.0 statistical software for statistical analysis. Results The median age at initial diagnosis of 51 patients was 5.5 years (range, 0.8-13.4 years). The median time from initial diagnosis to relapse was 25 months (range, 3-68 months) and follow-up time was 39 months (range, 3-116 months). The relapse rate in the standard-risk, intermediate-risk and the high-risk groups were 27.5 % (14/51), 29.4 %(15/51) and 43.1 % (22/51), respectively. The probability of 3-year overall survival (pOS) after relapse was (18.8±5.9)%and the probability of event free survival (pEFS) was (16.2±5.8)%. The 3-year pOS in very early relapse, early relapse and late relapse were 0, (11.7 ±7.7) % and (51.7 ±14.8) %, respectively (P= 0.000). There was no statistical difference in survival rate of different immunophenotype groups and sites of relapse (P> 0.05). The 3-year pOS of group S1, S2, S3, S4 were (50.0±35.4) %, (39.9±1.3) %, (10.0±9.5) % and 0, respectively (P=0.000). The 3-year pOS of bcr-abl and MLL gene positive groups were (25.0±21.7) %and 0, respectively, with no statistically significance compared with the negtive group [(24.1±12.0)%] (P>0.05). The 3-year pOS rates of children with bone marrow transplantation and without transplantation were (40.0 ±15.5) %and (13.0 ±5.9) % respectively (P= 0.038). Conclusions The children who in high risk group at initial diagnose are easily to meet earlier relapse and poorer prognosis. The survival period after relapse of bcr-abl or MLL gene positive cases is very short. Bone marrow transplantation can improve survival rate. Risk group at initial diagnose, relapse time and transplantation are the main factors influencing prognosis, and the relapse time and transplantation are the independent prognostic factors for relapsed childhood ALL.

OBJECTIVE: To construct two types of Wnt-inducible secreted protein 3(WISP3) gene's mutants(1000T/C,840delT) found in spondyloepiphyseal dysplasia tarda with progressive anthopathy (SEDT-PA) patients, and to observe their expression in COS-7 cells. METHODS: Full-length cDNA of wild type WISP3 gene(WT-WISP3) was amplified from human chondrocytes by RT-PCR, and site-directed mutagenesis was used to obtain full-length cDNAs of the mutated WISP3 genes(MUT1000T/C and MUT840delT). The recombined plasmids WT-WISP3/pcDNA3.1(+), MUT1000T/C/pcDNA3.1(+) and MUT840delT/pcDNA3.1(+) were transfected transiently into COS-7 cells by liposome-mediated method, and pcDNA3.1(+) vector was used as a control. The total RNA and protein of the transfected COS-7 cells were extracted after 48 hours of transfection. The expression of WISP3 gene in the transfected COS-7 cells was detected by semi-quantitative RT-PCR and Western blot. RESULTS: By restriction endonuclease analysis and sequencing, the sequence of MUT1000T/C and MUT840delT were consistent with that mutated in SEDT-PA, and the open reading frames matched with the vector sequence. Semi-quantitative RT-PCR and Western blot showed that the recombined plasmids were highly expressed in COS-7 cells. CONCLUSION WISP3 gene's mutants of SEDT-PA are successfully constructed by genetic recombination, and expressed in COS-7 cells, which lays the foundation for the further study on its molecular functions in SEDT-PA.
Animals ; Base Sequence ; CCN Intercellular Signaling Proteins ; COS Cells ; metabolism ; Chlorocebus aethiops ; Humans ; Insulin-Like Growth Factor Binding Proteins ; biosynthesis ; genetics ; Molecular Sequence Data ; Mutagenesis, Site-Directed ; Mutation ; Osteochondrodysplasias ; genetics ; metabolism ; Transfection

Objective:To evaluate the treatment efficacy of children with T-cell acute lymphoblastic leukemia (T-ALL) and to explore the prognostic risk factors.Methods:The clinical and laboratory data of children with newly diagnosed T-ALL in Children's Hospital of Fudan University and Children's Hospital of Shanghai from January 2002 to December 2014 were retrospectively analyzed and compared with children with newly diagnosed B-cell acute lymphoblastic leukemia (B-ALL) in the same period. The treatment protocols were based on the combination of the Berlin-Frankfurt-Münster (BFM)-ALL regimen with chemotherapy. The treatment response and infection of the children were observed. Cox proportional hazard regression model single-factor and multifactor analysis were used to evaluate the prognostic factors.Results:Seventy-one children with T-ALL and 333 children with B-ALL were enrolled. The clinical features including gender, age, central nervous system leukemia as well as the white blood cell count at first diagnosis were significantly different between the two groups (all P < 0.05). The prednisone good response rates of children with T-ALL were lower than that of B-ALL [78.9% (56/71) vs. 93.4% (311/333), P < 0.01], and the complete remission rates were lower than that of [94.4% (67/71) vs. 99.1% (330/333), P= 0.023]. By the end of follow-up, the relapse rates of children with T-ALL and B-ALL were 20.9% (14/67) and 16.4% (54/330) ( P= 0.369). The children with T-ALL had a shorter time to relapse compared with children with B-ALL [64.3% (9/14) vs. 35.2% (19/54), P= 0.049]. The 5-year overall survival (OS) rates of children with T-ALL and B-ALL were (62.1±6.4)% and (81.3±2.4)% (P < 0.05), and the 5-year event free survival (EFS) rates were (61.0±6.3)% and (71.0±2.7)% (P < 0.05). There was no significant difference in OS and EFS among pro/pre T-ALL, cortical T-ALL and mature T-ALL (both P > 0.05). The difference of EFS curves between children with early T-precursor (ETP)-ALL and non-ETP ALL was statistically significant ( P= 0.044). The most common infection site was respiratory tract [63.9% (186/291)], and the gram-negative bacteria accounted for 43.5% (20/46). Cox univariate analysis showed that prednisone poor response, bone marrow non-remission on day 33 of induction-therapy, relapse and sepsis were prognostic risk factors for children with T-ALL (all P < 0.05), and Cox multivariate analysis showed that the latter three were independent prognostic risk factors (all P < 0.05). Conclusions:The prognosis of children with T-ALL is worse than children with B-ALL, and T-ALL patients are prone to early relapse. The EFS of children with ETP-ALL is poor. Non-remission at the end of induction-therapy, relapse and sepsis are independent risk factors for prognosis.

Objective To compare the efficacy and safety of induction therapy in 3+7 protocol and 3+10 protocol in children with acute myeloid leukemia (AML). Methods Two protocols were carried out in our hospital during January 2010 to January 2015, namely 3+7 protocol(AML-06,A group) and 3+10 protocol (modified AML protocol, B group). A total of 56 cases aged from 1 year-old to 13 year-old were enrolled in A group with male to female ratio at 31:25. Five of them were classified as FAB M1, 25 as M2, 11 as M4, 10 as M5, 2 as M6 and 3 as M7. Another 44 cases aged from 1 year to 12 years were enrolled in B group with a male to female ratio at 26:18, and 17 cases were classified as FAB M2, 14 as M4, 9 as M5, 2 as M6, and 2 as M7. Efficacy and adverse events were compared between the two groups. Results The complete remission rate (CR) of B group was 70.4%, while CR in A group was 48.2%. Considering the CR, 3+10 protocol showed higher efficacy than 3+7 protocol (P< 0.05). The major adverse event was bone marrow suppression. Treatment-related mortality (TRD) in A group was 1.8%, which was lower than that in B group (2.3%). The overall survival rate in A group was 75.0%, which was lower than that in B group (86.4%, P< 0.05). Conclusions The induction therapy of 3+10 protocol and 3+7 protocol showed effectiveness for AML treatment. The 3+10 protocol showed a higher CR than 3+7 protocol with no TRD increase, indicating that the 3+10 protocol should be recommended for AML treatment in children.

Objective:To investigate the long-term effects of porcine small intestinal submucosa (SIS) biologic mesh in open Lichtenstein tension-free hernia repair.Methods:The prospective randomized controlled study was conducted. The clinical data of 76 patients with unilateral inguinal hernia who underwent open Lichtenstein tension-free hernia repair in 2 medical centers (52 cases in Tianjin People′s Hospital and 24 cases in China-Japan Friendship Hospital) from August 2013 to March 2014 were selected. Based on random number method, patients were allocated into two groups. Patients undergoing Lichtenstein tension-free hernia repair using Biodesign Surgisis mesh were allocated into control group, and patients undergoing Lichtenstein tension-free hernia repair using SIS biologic mesh were allocated into experiment group. Observa-tion indicators: (1) grouping situations of the enrolled patients; (2) postoperative long-term effects. Follow-up was conducted using telephone interview, text message or mail to detect hernia recurrence or death due to other reasons as the end-point event of patients up to December 2019. Measurement data with normal distribution were represented as Mean± SD, and comparison between groups was conducted using the t test. Measurement data with skewed distribution were represented by M (range), and comparison between groups was conducted using the Mann-Whitney U test. Count data were described as absolute numbers, and comparison between groups was conducted using the chi-square test or Fisher exact probability. Results:(1) Grouping situations of the enrolled patients: a total of 76 patients were selected for eligibility. There were 38 cases in the control group and the experiment group, respectively. The number of males and females, age, body mass index, cases with intraspinal anesthesia or local anesthesia (anesthesia method), cases with inguinal hernia on the left side or on the right side, cases classified as type Ⅰ, Ⅱ, Ⅲ, Ⅳ or Ⅴ of Gilbert classification, operation time of the control group were 35, 3, (56±15)years, (23.0±2.0)kg/m 2, 22, 16, 16, 22, 9, 16, 0, 11, 2 and (49±15)minutes, respectively. The above indicators of the experiment group were 34, 4, (54±13)years, (22.9±2.2)kg/m 2, 17, 21, 14, 24, 9, 21, 1, 7, 0, and (53±21)minutes, respectively. There was no significant difference in the above indicators between the two groups ( χ2=0.157, t=0.532, 0.367, χ2=1.317, 0.220, Z=-0.315, t=-0.765, P>0.05). (2) Post-operative long-term effects: 35 patients of the control group were followed up for (68.8±2.7)months, 4 cases of which died due to other reasons, 1 case had hernia recurrence, 1 case had chronic pain and no foreign body sensation and postoperative infection occurred. Thirty-one patients of the experiment group were followed up for (68.8±2.7)months, with no death or above complications. There was no significant difference in hernia recurrence or chronic pain between the two groups ( P>0.05). Conclusion:The long-term effects of biological mesh in open Lichtenstein tension-free hernia repair is satisfactory and there is no difference in the long-term effects between the domestic SIS biological mesh and Biodesign Surgisis mesh.

OBJECTIVE: To detect pathological variant in two patients with Chediak-Higashi syndrome (CHS) from a consanguineous family and to explore its genotype-phenotype correlation. METHODS: Clinical data was collected for this pedigree. Genomic DNA was prepared from probands' peripheral leukocytes and their relatives' fingernail. Whole exome sequencing and Sanger sequencing were carried out to detect potential variant of the LYST gene. RESULTS: The proband presented with partial oculocutaneous albinism, immunodeficiency and acidophilic inclusion body in bone marrow and blood smears. A novel homozygous nonsense variant c.8782C>T (p.Gln2928*) was identified in exon 34 of the LYST gene in the sib pair. The same variant was found to be in heterozygous status in 6 unaffected individuals from the pedigree. CONCLUSION Above result enriched the mutational spectrum of CHS and provided a basis for genetic counseling and prenatal diagnosis for this pedigree.
Chediak-Higashi Syndrome ; genetics ; Exons ; Heterozygote ; Humans ; Mutation ; Pedigree ; Sequence Analysis, DNA ; Vesicular Transport Proteins ; genetics ; Whole Exome Sequencing

OBJECTIVETo analyze the complications and short-term outcomes of patients receiving intraoperative electron radiotherapy (IOERT) for locally advanced and recurrent periarticular soft tissue sarcomas of the extremities.

METHODSTwenty-one adult patients with locally advanced and/or recurrent periarticular soft tissue sarcomas of the extremities treated with IOERT were included in this study. Among them 14 patients had recurrent diseases after prior operation and 7 patients with locally advanced disease with primary treatment. The total dose of radiation ranged from 11 Gy to 21 Gy of 6 - 12 MeV beta ray given by intraoperative radiotherapy after complete tumor resection with negative margins. Five patients were given external beam radiotherapy (EBRT) with a total dose of 40 - 50 Gy, and 10 patients received chemotherapy.

RESULTSThe median follow-up time was 15 months. Five patients (23.8%) had tumor relapse, including one patients with local recurrence, one patient with regional recurrence, two patients with distant metastasis and one patient with local recurrence and distant metastasis. The actuarial local control rate at 1 year was 95.2% (20/21), and at 2 years was 90.5% (19/21). Acute skin toxicity (RTOG) within 3 months after surgery included grade I in 6 patients and grade II in 3 patients. Two year late skin toxicity (RTOG/EORTC) included grade I in 4 patients and grade II in 2 patients. Fibrosis included grade I in 3 patients and grade II in 3 patients. Six patients had joint dysfunction (3 patients with grade I and 3 with grade II) and 6 patients had healing problems. One patient got ipsilateral schiatic neuritis 9 months after IOERT. No adverse events occurred during surgery.

CONCLUSIONSIOERT brings tolerable complications of acute and late toxicities and favorable local control rate. IOERT should be followed by postoperative radiotherapy or increase the intraoperative radiation dose for locally advanced and recurrent sarcomas to get a better local control. Otherwise, distant metastasis is one of the main reasons of treatment failure, so chemotherapy should be added to the treatment regimen.

Adolescent ; Adult ; Aged ; Atrophy ; etiology ; Electrons ; adverse effects ; therapeutic use ; Extremities ; Female ; Fibrosis ; etiology ; Follow-Up Studies ; Humans ; Intraoperative Period ; Male ; Middle Aged ; Neoplasm Recurrence, Local ; radiotherapy ; surgery ; Neoplasm, Residual ; radiotherapy ; Radiotherapy Dosage ; Radiotherapy, Adjuvant ; adverse effects ; Sarcoma ; drug therapy ; radiotherapy ; surgery ; Skin ; pathology ; Young Adult

OBJECTIVETo investigate the incidence of hot spot mutation of PDS gene by genetic screening testing method in Chifeng City, Inner Mongolia. The feasibility and effectiveness of genetic screening method in finding enlarged vestibular aqueduct syndrome were confirmed by temporal bone CT scan.

METHODSDNA were extracted from peripheral blood of 141 students of Chifeng Deaf and Dumb school. PDS IVS7-2 A-G mutation, the most common PDS mutation in Chinese population, was analyzed by direct sequencing for PDS exon 7, exon 8 with intron 7. The individuals found with homozygous or heterozygous PDS IVS7-2 A-G mutation were given further temporal CT scan, ultrasound scan of thyroid and thyroid hormone assays. The results of PDS genetic screening and temporal bone CT scan were compared with each other.

RESULTSThe sequencing results revealed twenty cases carrying PDS IVS7-2 A-G mutation, of whom nine cases were homozygous mutation and eleven cases were heterozygous mutation. Eighteen cases underwent temporal bone CT scan except two cases that left the school due to other health problem. Sixteen cases were confirmed to be enlarged vestibular aqueduct syndrome (EVAS) by CT scan and the shape and function of thyroid were clinically normal by ultrasound scan of thyroid and thyroid hormone assays, respectively.

CONCLUSIONSThe patients suffered from EVAS can be diagnosed by the screening for the PDS hot spot mutation which has unique advantage in epidemiologic study in large scale deaf population. The preliminary data of this study suggested relatively high incidence of EVAS in Chifeng area.

Adolescent ; Child ; Child, Preschool ; China ; Female ; Genetic Testing ; Hearing Loss ; genetics ; Humans ; Membrane Transport Proteins ; genetics ; Point Mutation ; Syndrome ; Vestibular Aqueduct ; pathology ; Vestibular Diseases ; genetics ; Young Adult

OBJECTIVETo describe the current status and trend of food consumption among Chinese residents.

METHODS23,470 households including 68,962 subjects were randomly sampled from 132 counties in 31 provinces, autonomous regions and municipalities. A 24-hour dietary recall method for 3 consecutive days was used to collect information on food intake, but the condiment intake was collected by weighting method.

RESULTSThe average food consumption per reference man per day of Chinese people included 402 g (urban/rural: 366 g/ 416 g) cereals; 276 g (urban/rural: 252 g/ 286 g) vegetables; 45 g (urban/rural:69 g/36 g) fruits; 79 g (urban/rural: 105 g/69 g) meats; 30 g (urban/rural:45 g/24 g) fishery products; 24 g (urban/rural: 33 g/20 g) eggs; 27 g(urban/rural: 66 g/ 11 g) dairy; 16 g legume; 42 g (urban/rural:44 g/41 g) edible oil; 12 g (urban/rural: 11 g/12 g) salt; 9 g (urban/rural: 11 g/8 g) soy sauce.

CONCLUSIONSFor Chinese residents, the quality of diet had been improved and consumptions of animal products, milk, and edible oil had been increased, but the consumptions of dairy and legume products intake was still low which called for improvement. The unbalance was characterized as the downward trend in cereal, vegetable and fruit consumption but significant increased in animal products and oil intake among urban people. Dietary pattern of some subjects adopted a "high energy density" diet. Double burdens from under-nutrition and over-nutrition should both be considered as problems which asked for attention by the government and researchers.

Adolescent ; Adult ; Asian Continental Ancestry Group ; statistics & numerical data ; Child ; Child, Preschool ; China ; Dietary Fats ; Eating ; Edible Grain ; Female ; Fruit ; Humans ; Male ; Meat ; Middle Aged ; Nutrition Surveys ; Rural Population ; statistics & numerical data ; trends ; Sodium Chloride, Dietary ; Soy Foods ; Urban Population ; statistics & numerical data ; trends ; Young Adult