OBJECTIVETo explore the pathogenesis of idiopathic thrombocytopenic purpura (ITP) and improve the differential diagnosis from myelodysplastic syndromes (MDS).

METHODSPolymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) was performed to detect the point mutation of codon 12,13 in N-ras gene and codon 301, 969 in fms gene in adult and aged ITP and MDS patients.

RESULTSIn 25 ITP patients, N-ras mutation and fms mutation were detected in one each (4%). Mutations were found in 3 of 8 MDS patients: two (25%) with N-ras mutation and one (12.5%) with fms mutation.

CONCLUSIONSPatients with N-ras or fms gene mutation diagnosed as MDS rather than ITP.

Adult ; Aged ; Female ; Genes, fms ; genetics ; Genes, ras ; genetics ; Humans ; Male ; Middle Aged ; Myelodysplastic Syndromes ; genetics ; Point Mutation ; Polymerase Chain Reaction ; Polymorphism, Single-Stranded Conformational ; Purpura, Thrombocytopenic, Idiopathic ; genetics

OBJECTIVETo investigate the clinical significance of plasmic L-plastin level in patients with colorectal cancer.

METHODSFrom March 2008 to March 2009, plasma samples were collected from 40 patients and 40 healthy controls. Plasmic L-plastin level was measured by ELISA kit and was compared to TIMP-1.

RESULTSPlasmic L-plastin level in patients with colorectal cancer was higher than that in healthy adults (1.662±0.386 vs. 0.485±0.085 μg/L, P<0.01). The sensitivity of L-plastin in the diagnosis of colorectal cancer was 67.5%, and the specificity was 80.6%. The Youden index was 0.481 and AUC was 0.772 (P<0.01). Plasmic L-plastin levels were associated with the tumor size (P=0.006), serosal penetration (F=4.687, P<0.05) and lymphatic metastasis (P<0.01). Compared to plasmic TIMP-1 level, L-plastin showed the same capability in indicating the depth of tumor. The specificity of L-plastin was better in indicating lymphatic metastasis (86% vs. 58%, χ2=4.2, P<0.05).

CONCLUSIONSPlasmic L-plastin level may serve as a potential marker in colorectal cancer.

Aged ; Case-Control Studies ; Colorectal Neoplasms ; blood ; diagnosis ; Enzyme-Linked Immunosorbent Assay ; Female ; Humans ; Male ; Membrane Glycoproteins ; blood ; Microfilament Proteins ; blood ; Middle Aged ; Sensitivity and Specificity ; Tissue Inhibitor of Metalloproteinase-1 ; blood

OBJECTIVETo further understand the clinical features of non-gastric mucosa-associated lymphoid tissue (MALT) lymphoma and investigate its suitable treatment.

METHODSA retrospective survey of 57 non-gastric MATL lymphoma patients pathologically confirmed in our hospital from 1999 to 2011.

RESULTSThe median age was 58 years (range 14-86 years). Common presenting sites of non-gastric MALT lymphoma included lungs and upper respiratory tract (17 patients, 29.8%), intestinal tracts (16 patients,28.1%), orbital and ocular adnexal (7 patients, 12.3%), and salivary glands (8 patients, 14.0%). Stage Ⅰ-Ⅱdisease presented in 35 patients (61.4%), stage Ⅲ-Ⅳ disease in 22 patients (38.6%). A total of 26 patients had nodal involvement and 7 patients multiple organ involvement. Regimens included surgery alone, chemotherapy alone, surgery followed by chemotherapy or chemoradiotherapy. The complete response (CR) rate was 66.0% and the overall response rate 85.7%. At a median follow-up of 52 months, the 5-year overall survival (OS) and the 5-year progression free survival (PFS) were 91.6% and 77.7%, respectively. The 5-year survival rate of surgery, chemotherapy, surgery+chemotherapy, surgery + chemotherapy + radiotherapy groups were 87.5%, 100.0%, 90.2% and 100.0%, respectively, without significant differences. The 5-year PFS of the four groups were 62.3%, 80.0%, 90.2% and 75.0% respectively.

CONCLUSIONNon-gastric MALT lymphoma is characterized by disseminated onset, favorable response to treatments and good outcomes. There is no statistically significant difference in the overall survival of the various treatments. But the recurrence rate of surgery alone is relatively high (22.3%).

Adolescent ; Adult ; Aged ; Aged, 80 and over ; Female ; Follow-Up Studies ; Humans ; Lymphoma, B-Cell, Marginal Zone ; diagnosis ; pathology ; therapy ; Male ; Middle Aged ; Prognosis ; Retrospective Studies ; Treatment Outcome ; Young Adult

Objective To investigate clinical efficacy of Xiaotan Tongluo Gel combined with mecobalamin tablets in treating chemotherapy-induced peripheral neuropathy (CIPN). Methods Totally 67 cases of CIPN were divided into the treatment group (36 cases) and the control group (31 cases). Both groups were given mecobalamin tablets, 0.5 mg each time, three times a day, orally. Patients in the treatment group were treated with Xiaotan Tongluo Gel for external use at the same time. The patients in control group were treated with placebo gel for external use, 1 mL/cm2, rubbed on the skin 1 cm more than sensory obstruction in diameter. The treatment for both groups lasted for 14 d as a treatment course, and the treatment lasted for 2 courses. The changes of peripheral nerve toxicity, TCM syndrome scores and the nerve conduction velocity were observed in the two groups. Results On the 14th and 28th days of treatment, the total effective rates of peripheral nerve toxicity were 75.00% and 91.67% in the treatment group, and 38.71% and 67.74% in the control group, and the treatment group was significantly better than those of the control group (P=0.002, P=0.005); On the 14th and 28th days of treatment, the total effective rate of TCM efficacy in the treatment group was 75.00% and 94.44% respectively, and that in the control group was 45.16% and 64.52% respectively, and the treatment group was significantly better than the control group (P=0.018, P=0.005). Compared with before treatment, the TCM syndrome scores in both groups were significantly reduced on the 14th and 28th days (P＜0.01); The TCM syndrome scores in the treatment group were significantly lower than those in the control group at the same time points after treatment (P＜0.01). Compared with before treatment, the sensory and motor nerve conduction speeds of the peroneal and median nerves in the two groups at 14th and 28th days were significantly increased (P＜0.01); Comparing the two groups at the same time point after treatment, the sensory and motor nerve conduction velocity of the peroneal and median nerves in the treatment group was significantly better than that in the control group (P＜0.05, P＜0.01). Conclusion Xiaotan Tongluo Gel combined with mecobalamin tablets can effectively improve the peripheral neurotoxicity induced by chemotherapy, TCM syndrome scores, and the nerve conduction velocity.

Objective To evaluate the application of intraoperative real-time ultrasound combined with neuronavigation in surgical resection of deep intracranial lesions. Methods Fifteen patients with deep intracranial lesions underwent surgical resection of the lesions with guidance by Brain-Lab neuronavigation and intraoperative real-time ultrasound. The lesions were localized by ultrasound, and in cases of brain shift, intraoperative real-time ultrasound was used for lesion relocalization, surgical guidance, and monitoring of the tumor remnants during the operation. Results The lesions and their surrounding structures were accurately localized. Intraoperative real-time ultrasound identified brain shift of varying degrees, which was corrected under ultrasound guidance. Total resection of the lesions was achieved in 12 cases, and subtotal resection was performed in 2 cases. In the other case, the inflammatory lesion was identified as chronic granuloma by biopsy. All the patients showed improvements of the clinical symptoms after the operations. Conclusion Intraoperative real-time ultrasound during neuronavigation allows accurate localization of deep intracranial lesions and facilitates preoperative surgical planning to define the scope of resection, avoid the cortical brain tissue and important deep structures, and help evaluate the lesion residues for a second operation. Intraoperative real-time ultrasound may help improve the therapeutic effects and reduce the surgical complications.

OBJECTIVETo explore the incidence, pathogenesis, risk factors and effective treatment of pulmonary complications after allogeneic peripheral blood stem cell transplantation (allo-PBSCT).

METHODSPulmonary complications in 70 patients received allo-PBSCT were analyzed.

RESULTSThirty one episodes were observed in 26 patients. Among them episodes were infectious complications, including bacteria pneumonia, pulmonary fungus disease, CMV interstitial pneumonia and tuberculosis, some cases were caused by two pathogens, and 11 episodes were noninfectious complications, including late-onset noninfectious pulmonary complications (LONIPCs) (n=9), pulmonary edema (n=1) and interstitial pneumonia (n=1). The overall mortality was 12.9%. Graft-versus-host disease (GVHD) prophylaxis without MTX, severe acute GVHD and extensive chronic GVHD were high risk factors for pulmonary complications and advanced disease at transplantation, extensive chronic GVHD were significantly associated with the incidence of LONIPCs.

CONCLUSIONPulmonary disease is the main complication occurred in patients undergoing allo-PBSCT. It is of greatly importance to treat pathogens specifically and diagnose LONIPCs in its early stage.

Adolescent ; Adult ; Female ; Graft vs Host Disease ; prevention & control ; Hematologic Diseases ; surgery ; Humans ; Lung Diseases ; etiology ; Male ; Middle Aged ; Peripheral Blood Stem Cell Transplantation ; adverse effects

OBJECTIVETo evaluate and compare the efficacy and safety of Nedaplatin (NDP)-based regimen and cisplatin (DDP)-based regimen for head and neck squamous cell carcinoma (HNSCC), non-small cell lung cancer (NSCLC), esophageal cancer and ovary epithelial cell carcinoma.

METHODSSingle agent group: NDP was administered at a dose of 100 mg/m(2) on D1, every 3 weeks for at least 2 cycles. Combination chemotherapy group: combined with 5-Fu, NVB, VDS + 5-Fu, PTX or CTX respectively, NDP 80 mg/m(2) on D1 or DDP 30 mg/m(2) on D1-3, every 3 weeks for at least 2 cycles was given.

RESULTSOf 237 patients in this trial, 37 were treated by single Nedaplatin, 139 by NDP-based regimen, 61 by DDP-based regimen in the control group. The response rate of single Nedaplatin chemotherapy for advanced NSCLC was 10.5% (2/19), for ovary carcinoma (1/3) and HNSCC (1/1). For NSCLC and ovary carcinoma patients who had failed in the previous DDP-based chemotherapy, the response rates by single NDP chemotherapy were still 9.1% and 33.3%. The response rate of NDP-based combination regimen for NSCLC, ovary carcinoma, HNSCC and esophageal cancer was 33.9% (21/62), 44.8% (13/29), 20.0% (3/15) and 18.2% (4/22), respectively, which was not statistically different from the rate of controlled group treated by DDP-based regimen. For chemonaive NSCLC, the effect of NDP-based combination regimen (35.7%) was significantly superior to the effect of DDP-based regimen (17.1%) (P = 0.045). The most common adverse events of nedaplatin were myelosuppression (leukopenia, thrombocytopenia, anemia), nausea and vomiting. The myelosuppression and renal toxicity of NDP-based regimen were similar to that of DDP-based regimen, but vomiting was milder than that of DDP-based regimen (54% vs. 75.4%), and grade I/II liver toxicity was more common in the NDP-based regimen than in DDP-based regimen (10.8% vs. 0).

CONCLUSIONNedaplatin is effective in the treatment for HNSCC, NSCLC and ovary carcinoma. Compared with the control group treated by DDP-based regimen, nedaplatin-based combination chemotherapy has similar effect on HNSCC, NSCLC, ovary carcinoma and esophageal cancer. Gastrointestinal reaction of nedaplatin is milder than that of cisplatin but the liver function during chemotherapy must be monitored closely.

Adolescent ; Adult ; Aged ; Antineoplastic Agents ; therapeutic use ; Antineoplastic Combined Chemotherapy Protocols ; adverse effects ; therapeutic use ; Carcinoma, Non-Small-Cell Lung ; drug therapy ; Cisplatin ; administration & dosage ; Esophageal Neoplasms ; drug therapy ; Female ; Fluorouracil ; administration & dosage ; Head and Neck Neoplasms ; drug therapy ; Humans ; Leukopenia ; chemically induced ; Lung Neoplasms ; drug therapy ; Lymphatic Metastasis ; Male ; Middle Aged ; Nausea ; chemically induced ; Organoplatinum Compounds ; administration & dosage ; therapeutic use ; Ovarian Neoplasms ; drug therapy ; Vinblastine ; administration & dosage ; analogs & derivatives

The aim of study was to explore the incidence, risk factors, outcome and efficacious treatment of late-onset noninfectious pulmonary complications (LNIPC) after allogeneic peripheral blood stem cell transplantation (allo-PBSCT). Seventy patients received allo-PBSCT were analyzed retrospectively. The results showed that 9 out of 63 patients surviving more than 3 months occurred late-onset noninfectious pulmonary complications (14.3%). Five out of the 9 patients developed secondary pulmonary infections. In 4 patients, LNIPC caused death directly. Advanced stage of disease at transplantation and extensive chronic graft-versus-host disease (GVHD) happened in association with LNIPC. However, other transplantation-related factors including age at transplantation, gender of patient, conditioning regimen, HLA matching and GVHD prophylaxis were not significantly correlated with the incidence of LNIPC. It is concluded that performing pulmonary function test (PFT) and thoracic computer tomography should be taken routinely after transplantation. Most patients who get correct and early diagnosis for LNIPC will show a positive response to prednisone with or without CsA.
Adolescent ; Adult ; Cyclosporine ; therapeutic use ; Female ; Graft vs Host Disease ; prevention & control ; Humans ; Incidence ; Leukemia ; therapy ; Lung Diseases, Interstitial ; classification ; drug therapy ; etiology ; Male ; Peripheral Blood Stem Cell Transplantation ; adverse effects ; Prednisone ; therapeutic use ; Retrospective Studies ; Risk Factors ; Transplantation, Homologous

Objective: To discuss the clinical and genetic features of intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures (IDDBCS). Methods: The clinical and genetic records of a patient who was diagnosed with IDDBCS caused by PHF21A gene variation at Children's Hospital Capital Institute of Pediatrics in 2021 were collected retrospectively. Using " PHF21A gene" as the keyword, relevant articles were searched at CNKI, Wanfang Data and PubMed from establishment of databases to February 2023. Clinical and genetic features of IDDBCS were summarized in the combination of this case. Results: An 8 months of age boy showed overgrowth (height, weight and head circumference were all higher than the 97^th percentile of children of the same age and sex) and language and motor developmental delay after birth, and gradually showed autism-like symptoms like stereotyped behavior and poor eye contact. At 8 months of age, he began to show epileptic seizures, which were in the form of a series of spastic seizures with no reaction to adrenocorticotropic hormone but a good response to vigabatrin. Physical examination showed special craniofacial appearances including a prominent high forehead, sparse eyebrows, broad nasal bridge, and downturned mouth with a tent-shaped upper lip. The patient also manifested hypotonia. Whole exome sequencing showed a de novo heterogeneous variant, PHF21A (NM_001101802.1): c.54+1G>A, and IDDBCS was diagnosed. A total of 6 articles (all English articles) were collected, involving this case and other 14 patients of IDDBCS caused by PHF21A gene variation. Clinical manifestations were intellectual disability or developmental delay (15 patients), craniofacial anomalies (15 patients), behavioral abnormalities (12 patients), seizures (9 patients), and overgrowth (8 patients). The main pathogenic variations were frameshift variations (8 patients). Conclusions: IDDBCS should be considered when patients show nervous developmental abnormalities, craniofacial anomalies, seizures and overgrowth. PHF21A gene variation detection helps to make a definite diagnosis.
Male ; Humans ; Child ; Intellectual Disability/genetics* ; Developmental Disabilities/genetics* ; Retrospective Studies ; Seizures/genetics* ; Craniofacial Abnormalities/genetics* ; Histone Deacetylases/genetics*

Objective: To summarize the clinical characteristics of epileptic seizure associated with neurofibromatosis type 1 (NF1). Methods: From January 2017 to July 2023 at Children's Hospital Capital Institute of Pediatrics, medical records of patients with both NF1 and epileptic seizure were reviewed in this case series study. The clinical characteristics, treatment and prognosis were analyzed retrospectively. Results: A total of 15 patients(12 boys and 3 girls) were collected. Café-au-lait macules were observed in all 15 patients. There were 6 patients with neurodevelopmental disorders and the main manifestations were intellectual disability or developmental delay. The age at the first epileptic seizure was 2.5 (1.2, 5.5) years. There were various seizure types, including generalized tonic-clonic seizures in 8 patients, focal motor seizures in 6 patients, epileptic spasm in 4 patients, tonic seizures in 1 patient, absence in 1 patient, generalized myoclonic seizure in 1 patient and focal to bilateral tonic-clonic seizure in 1 patient. Among 14 patients whose brain magnetic resonance imaging results were available, there were abnormal signals in corpus callosum, basal ganglia, thalamus or cerebellum in 6 patients, dilated ventricles of different degrees in 3 patients, blurred gray and white matter boundary in 2 patients, agenesis of corpus callosum in 1 patient and no obvious abnormalities in the other patients. Among 13 epilepsy patients, 8 were seizure-free with 1 or 2 antiseizure medications(ASM), 1 with drug resistant epilepsy was seizure-free after left temporal lobectomy, and the other 4 patients who have received 2 to 9 ASM had persistent seizures. One patient with complex febrile convulsion achieved seizure freedom after oral administration of diazepam on demand. One patient had only 1 unprovoked epileptic seizure and did not have another seizure without taking any ASM. Conclusions: The first epileptic seizure in NF1 patients usually occurs in infancy and early childhood, with the main seizure type of generalized tonic-clonic seizure and focal motor seizure. Some patients have intellectual disability or developmental delay. Most epilepsy patients achieve seizure freedom with ASM.
Male ; Female ; Humans ; Child, Preschool ; Child ; Neurofibromatosis 1/diagnosis* ; Retrospective Studies ; Intellectual Disability ; Electroencephalography ; Epilepsy/etiology* ; Seizures/etiology*