OBJECTIVES: To investigate the clinical features of juvenile myelomonocytic leukemia (JMML) and their association with prognosis. METHODS: Clinical and prognosis data were collected from the children with JMML who were admitted from January 2008 to December 2016, and the influencing factors for prognosis were analyzed. RESULTS: A total of 63 children with JMML were included, with a median age of onset of 25 months and a male/female ratio of 3.2∶1. JMML genetic testing was performed for 54 children, and PTPN11 mutation was the most common mutation and was observed in 23 children (43%), among whom 19 had PTPN11 mutation alone and 4 had compound PTPN11 mutation, followed by NRAS mutation observed in 14 children (26%), among whom 12 had NRAS mutation alone and 2 had compound NRAS mutation. The 5-year overall survival (OS) rate was only 22%±10% in these children with JMML. Of the 63 children, 13 (21%) underwent hematopoietic stem cell transplantation (HSCT). The HSCT group had a significantly higher 5-year OS rate than the non-HSCT group (46%±14% vs 29%±7%, P<0.05). There was no significant difference in the 5-year OS rate between the children without PTPN11 gene mutation and those with PTPN11 gene mutation (30%±14% vs 27%±10%, P>0.05). The Cox proportional-hazards regression model analysis showed that platelet count <40×10⁹/L at diagnosis was an influencing factor for 5-year OS rate in children with JMML (P<0.05). CONCLUSIONS The PTPN11 gene was the most common mutant gene in JMML. Platelet count at diagnosis is associated with the prognosis in children with JMML. HSCT can improve the prognosis of children with JMML.
Child ; Humans ; Male ; Female ; Child, Preschool ; Leukemia, Myelomonocytic, Juvenile/therapy* ; Prognosis ; Genetic Testing ; Mutation ; Hematopoietic Stem Cell Transplantation

Objective: To describe the gene mutation profile of newly diagnosed pediatric B-acute lymphoblastic leukemia (B-ALL) and analyze its effect on minimal residual disease (MRD). Methods: A total of 506 newly diagnosed B-ALL children treated in Institute of Hematology & Blood Diseases Hospital, Chinese Academy of Medical Sciences from September 2018 to July 2021 were enrolled in this retrospective cohort study. The enrolled children were divided into MRD ≥1.00% group and <1.00% group according to MRD results on the 19th day since chemotherapy, and MRD ≥0.01% group and <0.01% group according to MRD results on the 46th day. Clinical characteristics and gene mutations of two groups were compared. Comparisons between groups were performed with chi-square test or Fisher's exact test. Independent risk factors of MRD results on the 19th day and the 46th day were analyzed by Logistic regression model. Results: Among all 506 patients, there were 318 males and 188 females. On the 19th day, there were 114 patients in the MRD ≥1.00% group and 392 patients in the MRD <1.00% group. On the 46th day, there were 76 patients in the MRD ≥0.01% group and 430 patients in the MRD <0.01% group. A total of 187 gene mutations were detected in 487 (96.2%) of 506 children. The most common gene mutations were signal transduction-related KRAS gene mutations in 111 cases (22.8%) and NRAS gene mutations in 99 cases (20.3%). Multivariate analysis showed that PTPN11 (OR=1.92, 95%CI 1.00-3.63), KMT2A (OR=3.51, 95%CI 1.07-11.50) gene mutations and TEL-AML1 (OR=0.48, 95%CI 0.27-0.87), BCR-ABL1 (OR=0.27, 95%CI 0.08-0.92) fusion genes and age >10 years (OR=1.91, 95%CI 1.12-3.24) were independent influencing factors for MRD ≥1.00% on the 19th day. BCORL1 (OR=2.96, 95%CI 1.18-7.44), JAK2 (OR=2.99, 95%CI 1.07-8.42) and JAK3 (OR=4.83, 95%CI 1.50-15.60) gene mutations and TEL-AML1 (OR=0.43, 95%CI 0.21-0.87) fusion gene were independent influencing factors for MRD ≥0.01% on the 46th day. Conclusions: Children with B-ALL are prone to genetic mutations, with abnormalities in the RAS signaling pathway being the most common. Signal transduction related PTPN11, JAK2 and JAK3 gene mutations, epigenetic related KMT2A gene mutation and transcription factor related BCORL1 gene mutation are independent risk factors for MRD.
Child ; Female ; Male ; Humans ; High-Throughput Nucleotide Sequencing ; Neoplasm, Residual/genetics* ; Retrospective Studies ; Genomics ; Precursor Cell Lymphoblastic Leukemia-Lymphoma

OBJECTIVE: This study aimed to research whether anterior tibial crest is a reliable anatomical reference for rotational alignment of tibial component in TKA. METHODS: The study included 122 patients who underwent computed tomography angiography (CTA) examination for unilateral lower extremity trauma with normal contralateral lower extremities, including 89 males and 33 females, with an average age of(51.4±16.4) years old(ranged 18 to 81 years old). Picture archiving and communication system (PACS) was used to mark 11 lines including the surgical epicondylar axis (SEA) connecting the most prominent points of the lateral epicondyle and the deepest point of the sulcus on the medial epicondyle of the femur, axis of medial border of patellar tendon (MEPT)connecting the middle of the posterior cruciate ligament (PCL) and medial border of the patellar tendon at the level of a standard tibial cut from 8 mm distal of the lateral tibial joint surface, transverse axis of tibia (TAT) at the level of a standard tibial cut from 8 mm distal of the lateral tibial joint surface, Akagi line connecting the projected middle of the PCL and medial border of the patellar tendon at the tibial attachment, the axis of the medial 1/3 of patellar tendon(M1/3) connecting the projected middle of PCL and the medial 1/3 of the patellar tendon at the patellar tendon attachment level, Insall line connecting the projected middle of the PCL and the medial 1/3 of tibial tubercle, the axis of medial border of tibial tubercle (MBTT) connecting the projected middle of the PCL and medial border of tibial tubercle, as well as the axis of the proximal anterior tibial crest (PATC), axis 1 of the middle anterior tibial crest (MATC1), axis 2 of the middle anterior tibial crest (MATC2) and the axis of the distal anterior tibial crest (DATC) which were marked by connecting the 4 equidistant points on the sharp anterior tibial crest and the projected middle of the PCL. The angles between TAT and SEA as well as the angles between other axes and the perpendicular to SEA were measured. Pairwise differences among the 10 tibial axes were examined using One-Way ANOVA and paired RESULTS: The angles between the axes of MEPT, Akagi line, M1/3, Insall line, MBTT, PATC, MATC1, MATC2, DATC and the perpendicular to SEA were (-1.6 ±4.5)° , (1.4 ±5.0)° , (10.2±5.1)°, (11.9±5.4)°, (3.6±4.8)°, (12.0±6.9)°, (7.2±8.6)°, (7.1±10.4)°, (6.6±13.5)°, respectively. The angle between TAT and SEA was (4.1±5.3)°. MEPT was external rotation compared to SEA. M1/3, Insall line and PATC were significantly greater than Akagi line, MBTT, TAT ( CONCLUSION The middle tibial anterior crest can be used as a reference for rotational alignment of tibial component in TKA, and its reliability is better than Insall line, but worse than Akagi line, TAT and MBTT.
Adolescent ; Adult ; Aged ; Aged, 80 and over ; Arthroplasty, Replacement, Knee ; Female ; Humans ; Knee Joint/surgery* ; Male ; Middle Aged ; Posterior Cruciate Ligament/surgery* ; Reproducibility of Results ; Rotation ; Tibia/surgery* ; Young Adult

Sirtuins belongs to the class III family of histone deacetylases (HDAC), which is a mammalian homolog of the yeast silencing information regulator Sir2. Silent information regulator factor 2-related enzyme 1 (SIRT1) is the most well studied family member of Sirtuins. Distributed mainly in the nucleus and cytoplasm, SIRT1 is involved in various intracellular biological processes, including DNA damage repair, gene transcription, energy metabolism, stress and apoptosis through its NAD

OBJECTIVE: To study the pharmacokinetic characteristics, clinical effect, and safety of pegylated recombinant human granulocyte colony-stimulating factor (PEG-rhG-CSF) in children with acute lymphoblastic leukemia (ALL). METHODS: A prospective study was performed on children with ALL who cyclophosphamide, cytarabine, and 6-mercaptopurine were used for consolidation therapy. PEG-rhG-CSF (PEG-rhG-CSF group) or rhG-CSF (rhG-CSF group) was injected after chemotherapy. The plasma concentration of PEG-rhG-CSF was measured, and clinical outcome and safety were observed for both groups. RESULTS: A total of 17 children with ALL were enrolled, with 9 children in the PEG-rhG-CSF group and 8 children in the rhG-CSF group. In the PEG-rhG-CSF group, the peak concentration of PEG-rhG-CSF was 348.2 ng/mL (range 114.7-552.0 ng/mL), the time to peak was 48 hours (range 12-72 hours), and the half life was 14.1 hours (range 11.1-18.1 hours). The plasma concentration curve of PEG-rhG-CSF was consistent with the mechanism of neutrophil-mediated clearance. Compared with the rhG-CSF group, the PEG-rhG-CSF group had a significantly shorter median time to absolute neutrophil count (ANC) recovery (P<0.05). There were no significant differences between the two groups in ANC nadir, incidence rate of febrile neutropenia, duration of grade IV neutropenia, incidence rate of infection, and length of hospital stay. No bone pain or muscle soreness was observed in either group (P>0.05). CONCLUSIONS The pharmacokinetic characteristics of PEG-rhG-CSF in children with ALL receiving consolidation chemotherapy are consistent with the mechanism of neutrophil-mediated clearance, with a short half life and fast recovery of ANC, and there are no significant differences in safety between PEG-rhG-CSF and rhG-CSF.
Child ; Granulocyte Colony-Stimulating Factor/therapeutic use* ; Humans ; Neutropenia ; Polyethylene Glycols ; Precursor Cell Lymphoblastic Leukemia-Lymphoma/drug therapy* ; Prospective Studies ; Recombinant Proteins

OBJECTIVE: To investigate the consistency between FCM and PCR on the detecting of MRD in TCF3-PBX1 METHODS: 55 cases of paediatric TCF3-PBX1 RESULTS: Among the 55 children with TCF3-PBX1 CONCLUSION The detection result of MRD in TCF3-PBX1 detect by FCM and PCR shows better consistency. MRD positivity detected by FCM at the end of induction therapy (day 33) predicts a high risk of relapse in TCF3-PBX1 ALL patients.
Adolescent ; Bone Marrow ; Child ; Child, Preschool ; Female ; Humans ; Male ; Neoplasm, Residual ; Oncogene Proteins, Fusion/genetics* ; Precursor Cell Lymphoblastic Leukemia-Lymphoma ; Prognosis ; Recurrence

OBJECTIVE: To study the association of platelet level at diagnosis with prognosis in children with acute lymphoblastic leukemia (ALL). METHODS: A total of 892 children with ALL who underwent chemotherapy with the CCLG-ALL 2008 regimen were enrolled. According to the platelet count at diagnosis, these children were divided into normal platelet count group (platelet count ≥100×109/L; n=263) and thrombocytopenia group (platelet count <100×10/L; n=629). The thrombocytopenia group was further divided into (50- <100)×10/L (n=243), (20- <50)×10/L (n=263), and <20×10/L (n=123) subgroups. The association of clinical features (sex, age, immunophenotype, and molecular biology) with event-free survival (EFS) and overall survival (OS) was analyzed. RESULTS: Compared with the thrombocytopenia group, the normal platelet count group had significantly lower positive rate of MLL gene rearrangement and recurrence rate (P<0.05), as well as a significantly higher 10-year EFS rate (P<0.05). There was no significant difference in 10-year OS between the two groups (P>0.05). The normal platelet count group still had a significantly higher 10-year EFS rate than the thrombocytopenia group after the children with MLL gene rearrangement were excluded (P<0.05), and there was still no significant difference in 10-year OS between the two groups (P>0.05). The <20×10/L subgroup had significantly lower 10-year EFS and OS rates than the normal platelet count group, the (50- <100)×10/L subgroup, and the (20- <50)×10/L subgroup (P<0.05). After the children with MLL gene rearrangement were excluded, the <20×10/L subgroup still had significantly lower 10-year EFS and OS rates than the normal platelet count group, the (50-<100)×10/L subgroup, and the (20- <50)×10/L subgroup (P<0.05). CONCLUSIONS ALL children with MLL gene rearrangement often have the clinical manifestation of thrombocytopenia. Platelet level at diagnosis is associated with the prognosis of ALL children. The children with normal platelet count have a low recurrence rate and good prognosis, and those with a platelet count of <20×10/L have the worst prognosis.
Child ; Disease-Free Survival ; Humans ; Immunophenotyping ; Precursor Cell Lymphoblastic Leukemia-Lymphoma ; Prognosis ; Recurrence

Child ; Correlation of Data ; Flow Cytometry ; Humans ; Immunophenotyping ; Neoplasm, Residual ; Precursor Cell Lymphoblastic Leukemia-Lymphoma ; Prognosis

OBJECTIVEUEscope is a new angulated videolaryngoscope (VL). This review aimed to describe the features of UEscope and provide clinical evidences regarding the efficacy and safety of this video device in adult tracheal intubation and its roles in airway management teaching.

DATA SOURCESThe Wan Fang Data, CNKI, PubMed, Embase, Cochrane Library, and Google Scholar were searched for relevant English and Chinese articles published up to January 15, 2017, using the following keywords: "HC video laryngoscope", "UE videolaryngoscope", "video laryngoscope", and "videolaryngoscopy".

STUDY SELECTIONHuman case reports, case series, observable studies, and randomized controlled clinical trials were included in our search. The results of these studies and their reference lists were cross-referenced to identify a common theme.

RESULTSUEscope features the low-profile portable design, intermediate blade curvatures, all-angle adjustable monitor, effective anti-fog mechanisms, and built-in video recording function. During the past 5 years, there have been a number of clinical studies assessing the application and roles of UEscope in airway management and education. As compared with direct laryngoscope, UEscope improves laryngeal visualization, decreases intubation time (IT), and increases intubation success rate in adult patients with normal and difficult airways. These findings are somewhat different from the previous results regarding the other angulated VLs; they can provide an improved laryngeal view, but no conclusive benefits with regard to IT and intubation success rate. Furthermore, UEscope has extensively been used for intubation teaching and shown a number of advantages.

CONCLUSIONSUEscope can be used as a primary intubation tool and may provide more benefits than other VLs in patients with normal and difficult airways. However, more studies with large sample are still needed to address some open questions about clinical performance of this new VL.

OBJECTIVETo investigate the association between clinical outcome and gene mutations in children with Fanconi anemia (FA).

METHODSA retrospective analysis was performed for the clinical data of six children with the same severity of FA and receiving the same treatment. At first, single cell gel electrophoresis and chromosome breakage induced by mitomycin C were performed for diagnosis. Then the gene detection kit for congenital bone marrow failure diseases or complementation test was used for genotyping of FA. Finally the association between the clinical outcome at 3, 6, 9, or 12 months after treatment and gene mutation was analyzed.

RESULTSOf all the six FA children, five had FANCA type disease, and one had FANCM type disease; four children carried two or more FA gene mutations. Among the children with the same severity of FA, those with more FA mutations had a younger age of onset and poorer response to medication, and tended to progress to a severe type.

CONCLUSIONSChildren carrying more than two FA mutations have a poor clinical outcome, and hematopoietic stem cell transplantation should be performed as soon as possible.