Analysis of 9 cases of drug induced hypersensitivity syndrome related hemophagocytic lymphohistiocytosis / 中华儿科杂志

Objective: To analyze the clinical features,treatment and prognosis of drug induced hypersensitivity syndrome related hemophagocytic lymphohistiocytosis (DIHS-HLH). Methods: This was a retrospective case study. Clinical characteristics, laboratory results, treatment and prognosis of 9 patients diagnosed with DIHS-HLH in Beijing Children's hospital between January 2020 and December 2022 were summarized. Kaplan-Meier survival analysis was used to calculate the overall survival rate. Results: Among all 9 cases, there were 6 males and 3 females, with the age ranged from 0.8 to 3.1 years. All patients had fever, rash, hepatomegaly and multiple lymph node enlargement. Other manifestations included splenomegaly (4 cases), pulmonary imaging abnormalities (6 cases), central nervous system symptoms (3 cases), and watery diarrhea (3 cases). Most patients showed high levels of soluble-CD25 (8 cases), hepatic dysfunction (7 cases) and hyperferritinemia (7 cases). Other laboratory abnormalities included hemophagocytosis in bone marrow (5 cases), hypofibrinogenemia (3 cases) and hypertriglyceridemia (2 cases). Ascending levels of interleukin (IL) 5, IL-8 and interferon-γ (IFN-γ) were detected in more than 6 patients. All patients received high dose intravenous immunoglobulin, corticosteroid and ruxolitinib, among which 4 patients were also treated with high dose methylprednisolone, 2 patients with etoposide and 2 patients with cyclosporin A. After following up for 0.2-38.6 months, 7 patients survived, and the 1-year overall survival rate was (78±14)%. Two patients who had no response to high dose immunoglobulin, methylprednisolone 2 mg/(kg·d) and ruxolitinib died. Watery diarrhea, increased levels of IL-5 and IL-8 and decreased IgM were more frequently in patients who did not survive. Conclusions: For children with fever, rash and a suspicious medication history, when complicated with hepatomegaly, impaired liver function and high levels of IL-5 and IL-8, DIHS-HLH should be considered. Once diagnosed with DIHS-HLH, suspicious drugs should be stopped immediately, and high dose intravenous immunoglobulin, corticosteroid and ruxolitinib could be used to control disease.

Efficacy and safety of intermediate-dose cytarabine in the treatment of children with refractory high risk Langerhans cell histiocytosis / 中华儿科杂志

Objective: To analyze the efficacy, safety, and long-term prognosis of intermediate-dose cytarabine (Ara-c) regimen in the treatment of children with refractory risk organ involvement Langerhans cell histiocytosis (LCH). Methods: Clinical data of 17 children with multisystem and risk organ involvement LCH who failed the first-line therapy and were treated with intermediate-dose Ara-c (250 mg/m2, twice daily) regimen in the Hematology Center, Beijing Children's Hospital from January 2013 to December 2016 were analyzed retrospectively. In addition to the basic treatment of vindesine and dexamethasone, the patients received two regimens: regimen A: the intermediate-dose Ara-c combined with cladribine and regimen B: the intermediate-dose Ara-c alone. The efficacy, safety and prognosis of the two regimens were analyzed. Results: Among all 17 patients, there were 11 males and 6 females, with the diagnosis age of 2.1 (1.6, 2.7) years. Ten children received regimen A, all of them achieved active disease-better (AD-B) after 8 courses of induction therapy. The disease activity scores (DAS) decreased from 5.5 (3.0, 9.0) to 1.0 (0, 2.3). Seven children received regimen B, and 6 of them achieved AD-B after 8 courses of induction therapy. The DAS decreased from 4.0 (2.0, 4.0) to 1.0 (0, 2.0). The follow-up time was 6.2 (4.9,7.2) and 5.2 (3.7,5.8) years in group A and B. The 5-year overall survival rate was 100.0% in both groups, and the 5-year event free survival rate was (88.9±10.5)% and (85.7±13.2)% in group A and B. Grade 3 or 4 myelosuppression was observed in 8 patients in group A and 2 patients in group B. Conclusions: The intermediate-dose Ara-c regimen (with or without cladribine) is effective and safe for patients with refractory high-risk LCH, with a good long-term prognosis.

Analysis of clinical presentation and genetic characteristics of malignant infantile osteopetrosis / 中华儿科杂志

Objective: To investigate the clinical presentation and genetic characteristics of malignant infantile osteopetrosis. Methods: This was a retrospective case study. Thirty-seven children with malignant infantile osteopetrosis admitted into Beijing Children's Hospital from January 2013 to September 2022 were enrolled in this study. According to the gene mutations, the patients were divided into the CLCN7 group and the TCIRG1 group. Clinical characteristics, laboratory tests, and prognosis were compared between two groups. Wilcoxon test or Fisher exact test were used in inter-group comparison. The survival rate was estimated with the Kaplan-Meier method and the Log-Rank test was used to compare the difference in survival between groups. Results: Among the 37 cases, there were 22 males and 15 females. The age of diagnosis was 0.5 (0.2, 1.0) year. There were 13 patients (35%) and 24 patients (65%) with mutations in CLCN7 and TCIRGI gene respectively. Patients in the CLCN7 group had an older age of diagnosis than those in the TCIRGI group (1.2 (0.4, 3.6) vs. 0.4 (0.2, 0.6) years, Z=-2.60, P=0.008). The levels of serum phosphorus (1.7 (1.3, 1.8) vs. 1.1 (0.8, 1.6) mmol/L, Z=-2.59, P=0.010), creatine kinase isoenzyme (CK-MB) (457 (143, 610) vs. 56 (37, 82) U/L, Z=-3.38, P=0.001) and the level of neutrophils (14.0 (9.9, 18.1) vs. 9.2 (6.7, 11.1) ×109/L, Z=-2.07, P=0.039) at diagnosis were higher in the CLCN7 group than that in the TCIRG1 group. However, the level of D-dimer in the CLCN7 group was lower than that in the TCIRGI group (2.7 (1.0, 3.1) vs. 6.3 (2.5, 9.7) μg/L, Z=2.83, P=0.005). After hematopoietic stem cell transplantation, there was no significant difference in 5-year overall survival rate between the two groups (92.3%±7.4% vs. 83.3%±7.6%, χ²=0.56, P=0.456). Conclusions: TCIRGI gene mutations are more common in children with osteopetrosis. Children with TCIRGI gene mutations have younger age, lower levels of phosphorus, CK-MB, and neutrophils and higher level of D-dimer at the onset. After hematopoietic stem cell transplantation, patients with CLCN7 or TCIRGI gene mutations have similar prognosis.

Effectiveness and Safety of Dabrafenib in the Treatment of 20 Chinese Children with BRAFV600E-Mutated Langerhans Cell Histiocytosis / Journal of the Korean Cancer Association, 대한암학회지

Purpose@#We sought to investigate the effectiveness and safety of dabrafenib in children with BRAFV600E-mutated Langerhans cell histiocytosis (LCH). @*Materials and Methods@#A retrospective analysis was performed on 20 children with BRAFV600E-mutated LCH who were treated with dabrafenib. @*Results@#The median age at which the patients started taking dabrafenib was 2.3 years old (range, 0.6 to 6.5 years). The ratio of boys to girls was 2.3:1. The median follow-up time was 30.8 months (range, 18.9 to 43.6 months). There were 14 patients (70%) in the risk organ (RO)+ group and six patients (30%) in the RO– group. All patients were initially treated with traditional chemotherapy and then shifted to targeted therapy due to poor control of LCH or intolerance to chemotherapy. The overall objective response rate and the overall disease control rate were 65% and 75%, respectively. During treatment, circulating levels of cell-free BRAFV600E (cfBRAFV600E) became negative in 60% of the patients within a median period of 3.0 months (range, 1.0 to 9.0 months). Grade 2 or 3 adverse effects occurred in five patients. @*Conclusion@#Some children with BRAFV600E-mutated LCH may benefit from monotherapy with dabrafenib, especially high-risk patients with concomitant hemophagocytic lymphohistiocytosis and intolerance to chemotherapy. The safety of dabrafenib is notable. A prospective study with a larger sample size is required to determine the optimal dosage and treatment duration.

Central Nervous System Involvement in 179 Chinese Children with Hemophagocytic Lymphohistiocytosis / 中华医学杂志(英文版)

Background@#Central nervous system (CNS) involvement is found in many patients with hemophagocytic lymphohistiocytosis (HLH). In this study, we mainly analyzed neurological symptoms, imaging findings, cerebrospinal fluid (CSF), and their relationship with outcomes of HLH children.@*Methods@#Related data of 179 Chinese pediatric patients with HLH admitted to our center from January 2010 to December 2015 were analyzed retrospectively. Diagnosis and treatment were based on the HLH-2004 protocol. Two-tailed Chi-squared test was used to compare between different groups, and Kaplan-Meier survival curves were used to analyze the overall survival (OS) of patients with HLH.@*Results@#In the present study, 21.2% (38/179) of total patients had neurological symptoms including seizure, irritability, somnolence, and unconsciousness. There were 80 (50.0%, excluding 19 patients without imaging data) patients with cranial imaging abnormalities. There were 14.7% (17/116, excluding 63 patients who did not accept lumbar puncture) of patients with abnormal CSF results. CNS involvement is defined as abnormalities in one or more of CNS symptoms, radiological findings, and CSF. Thus, 60.3% of them had CNS involvement. As for the prognosis, the median follow-up time was 3.2 years (17 lost to follow-up). The probable 3-year OS of children was higher without CNS involvement (86.0% ± 4.6%) than those with CNS involvement (68.9% ± 4.9%, hazard ratio [HR] = 2.286, P = 0.019). Among them, the probable 3-year OS of children without CNS symptoms was 76.0% ± 3.8%, higher than with CNS symptoms (59.5% ± 8.1%, HR = 2.147, P = 0.047). The 3-year OS of children with abnormal CSF was 64.7% ± 11.6%, compared with normal CSF (85.1% ± 3.7%, HR = 0.255, P = 0.038).@*Conclusions@#HLH patients with CNS involvement might have worse outcomes compared with those without CNS involvement, and CNS symptoms and CSF changes are more important to access the prognosis than imaging abnormality.

Clinical Research of Pulmonary Langerhans Cell Histiocytosis in Children / 中华医学杂志(英文版)

Background@#Pulmonary Langerhans cell histiocytosis (PLCH) is an interstitial primary pulmonary disease, characterized by Langerhans cell proliferation. It is easily misdiagnosed in children. This study aimed to characterize the clinical manifestations and features of PLCH by retrospective analysis.@*Methods@#A retrospective analysis was performed in 117 PLCH patients out of 338 LCH patients who were admitted in our center from November 2006 to October 2013. Variables between two groups were compared by Mann-Whitney U-test and Chi-square test. Kaplan-Meier curves were constructed to compare the survival rates and Cox regression to evaluate the effect of risk factors.@*Results@#The median age of PLCH group was significantly lower than that of non-PLCH group (18.63 months vs. 43.4 months, P < 0.001). All PLCH children had other organ involvement and only 11 cases (9.4%) had respiratory symptoms. The most common radiologic finding was cystic lesions (29 cases, 24.8%). Pulmonary function abnormalities were dominated by obstructive ventilatory dysfunction (63 cases, 82.9%). The 5-year overall survival (OS) of PLCH children was 93.6% ± 2.3% and the event-free survival (EFS) was 55.7% ± 5.2%. Among the 38 cases with progressed or relapsed disease, five cases (13.2%) were due to progression or recurrence of lung damage. The 5-year OS of PLCH children with "risk organ" involvement was significantly lower than those without "risk organ" involvement (86.0% ± 4.9% vs. 100%, χ = 8.793, P = 0.003). The difference of EFS between two groups was also significant (43.7% ± 7.7% vs. 66.3% ± 6.5%, χ = 5.399, P = 0.020). The "risk organ" involvement had a significant impact on survival (hazard ratio = 1.9, P = 0.039).@*Conclusions@#PLCH mainly occurs in young children, and only a small percentage of patients have respiratory symptoms. They generally have other organ involvement. Most of PLCH children have a good prognosis and most lung lesions could have improved or stabilized. Management of "risk organ" involvement is the key point to improving EFS.

Combined common femoral artery endarterectomy with superficial femoral artery stenting plus Shuxuening Injection infusion for chronic lower extremity ischemia: 3-year results / 中国结合医学杂志

<p><b>OBJECTIVE</b>To investigate the efficacy and safety of combined common femoral artery (CFA) endarterectomy with superficial femoral artery (SFA) stenting plus Shuxuening Injection infusion in patients with complex multifocal arterial steno-obstructive lesions of the lower extremities.</p><p><b>METHODS</b>From March 2006 to March 2011, 104 lower limbs in 96 patients with multilevel peripheral arterial steno-occlusive disease, involving SFA as well as CFA and deep femoral artery (DFA) orifice, were treated by combined surgical with endovascular therapy, such as SFA stenting as an adjunct to CFA endarterectomy and patch angioplasty with the great saphenous vein. Before the end of the operation, 20 mL of Shuxuening Injection was infused through the catheter located in the treated artery. Technical and hemodynamic success, as well as primary and primary-assisted patency, was determined according to the Society for Vascular Surgery Guidelines. During follow-up, clinical status assessment, ankle-brachial index (ABI) test, and duplex Doppler ultrasound were administered every 6 months, and computed tomography angiography or magnetic resonance angiography was performed at 12, 24, and 36 months after discharge.</p><p><b>RESULTS</b>All patients underwent successful combined CFA endarterectomy with SFA stenting treatment. The average ABI after the combination treatment increased from pretreatment of 0.32±0.21 to 0.82±0.24 (P<0.01). No perioperative death and major limb amputations occurred. The mean duration of follow-up for 104 limbs from 96 patients was 1,180 days (range, 196-2,064 days). During follow-up, 5 patients died due to myocardial infarction, cerebral infarction, or pneumonia, and 5 patients were lost to follow-up. There were 21 cases (21.4%) of restenosis, with 15 that occurred in-stent and 6 near the distal end of the stent. A total of 18 (18.3%) reinterventions were performed, including 6 balloon angioplasty, 8 restenting procedures, 2 bypass surgeries, and 2 major limb amputations. The primary patency rates were 92.2%, 76.8%, and 61.3% at 12, 24, and 36 months, respectively, while the primary-assisted patency rates were 94.4%, 83.2%, and 75.6% at 12, 24, and 36 months, respectively.</p><p><b>CONCLUSION</b>The combined CFA endarterectomy with SFA stenting plus Shuxuening Injection infusion appears to offer a safe, less invasive, and effective treatment option to patients with chronic lower extremity ischemia due to complex multifocal peripheral artery disease.</p>

A pathogen analysis within 174 cases of hand-foot-mouth disease in the summer of 2009 / 中华实验和临床病毒学杂志

<p><b>OBJECTIVE</b>To analyze the pathogen and characteristics of the serum types of enterovirus of hand-foot-and-mouth disease (HFMD) in the summer, 2009.</p><p><b>METHODS</b>Both throat swab and herpes fluids were taken respectively from 174 children with HFMD in the outpatient infection during April to September, 2009. Anti-Cox A16 and anti-EV71 IgMs in the serum were detected with ELISA. And RNA were extracted from each sample followed with real-time fluorescence quantitative RT-PCR kits with three reagents: universal enterovirus primer, Coxsackievirus A16 (CA16) primer and enterovirus 71 (EV71) primer. Parts of positive samples were sequenced and analyzed.</p><p><b>RESULTS</b>(1) EV genes were detected from 167 cases, of which ,112 cases were positive for CA16 and 46 were positive for EV71. CA16: EV71 was 2.43: 1. (2) There were 51 cases with CA16 IgM positive and 25 cases with EV71 IgM positive in the early collected sera, and in the later samples, 98 cases with CA16 IgM positive and 32 cases with EV71 IgM positive. (3)The nucleotide homologies were 88.7%-98.5% of VP1 gene among CA16. The nucleotide homologies were 94.9% - 99.7% of VP1 gene among EV71, and were 92.1% - 95.3% with C4 subtype.</p><p><b>CONCLUSION</b>The mainly pathogen causing HFMD in children in the summer, 2009 were CA16 and EV71. EV71 infection, mainly C4 subtype, was highly elevated according to the earlier reported. Real-time RT-PCR is more appropriate than the serological test.</p>

Dyskeratosis congenital: clinical features and genotype analysis in two Chinese patients / 中华血液学杂志

<p><b>OBJECTIVE</b>To analysis the clinic and genotype in two Chinese patients with Dyskeratosis congenita (DC).</p><p><b>METHODS</b>The two patients were characterized by mucocutaneous abnormalities (abnormal nails, lacey reticular pigmentation, and oral leukoplakia), bone marrow failure. They were diagnosed with DC. DC genes were amplified by polymerase chain reaction (PCR), including DKC1, TERT, TERC, TINF2, NOP10, NHP2, then DNA sequencing was performed for abnormal exons.</p><p><b>RESULTS</b>An abnormal peak was found in exon 6 of TINF2 gene of the two patients. DNA sequencing showed a 845G→A transition in TINF2 gene in the two patients.</p><p><b>CONCLUSION</b>We should think about DC if the young patients with mucocutaneous abnormalities and marrow failure. TINF2 c.845G→A(R282H) does exist in the two patients. It is reported in China for the first time.</p>

Visceral leishmaniasis associated hemophagocytic lymphohistiocytosis: report of four childhood cases / 中华儿科杂志

<p><b>OBJECTIVE</b>The clinical features of four cases of visceral leishmaniasis (VL)-associated hemophagocytic lymphohistiocytosis (VL-HLH) were retrospectively analyzed for the purpose of helping the diagnosis of secondary HLH.</p><p><b>METHOD</b>Clinical data of three childhood cases of VL-HLH documented in our hospital and one case diagnosed in the Capital Institute of Pediatrics was reviewed retrospectively, with particular emphasis on peculiar clinical manifestations and on clues to the diagnosis of this relatively rare disease entity.</p><p><b>RESULT</b>Three children were from endemic areas of VL, and the other one had lived in endemic area for one year, which was revealed by detailed history-taking. Clinically, VL-HLH is characterized by persistent fever, hepatosplenomegaly and pancytopenia, which is similar to those of HLH, and is one of the important reasons of delayed diagnosis or misdiagnosis. Based on the HLH-2004 protocol, all the four cases met the diagnostic criteria of HLH. In addition, bone marrow aspirate and immunologic detection of VL-specific antibody via rk39 dipstick test during the early disease course of VL-HLH yielded negative results. Two cases who received HLH-targeted therapy responded reasonably well, with rapid temperature normalization and spleen retraction. Nevertheless, Hb remained lower than normal, which we believed to be related to persistent red cell destruction by the invading parasite Leishmania donovani.</p><p><b>CONCLUSION</b>VL, a parasitic disease caused by Leishmania donovani, which is currently endemic just in 6 provinces in China, shares similar clinical picture of HLH and is an easily ignored underlying cause of secondary HLH. We suggest that VL should be in the list of differential diagnosis for any patients with HLH who lives in or has a definite travel history to endemic areas. Repeated bone marrow studies are highly warranted to make a definite diagnosis of VL, because bone marrow aspirate or rk39 dipstick test during early disease course might yield negative results. Although VL-HLH responds quite well to HLH-tailored chemotherapy, specific therapy against VL must be given to prevent disease recurrence, and HLH-targeted chemotherapy might be discontinued to prevent chemotherapy-related toxicities.</p>

Suppression of survivin gene in leukemia cells by small interfering RNA / 中华儿科杂志

<p><b>OBJECTIVE</b>To evaluate the impact of specific siRNA on survivin gene in transfected leukemia cells.</p><p><b>METHOD</b>The small interfering RNA (siRNA) targeted survivin mRNA was synthesized in vitro and was transfected into K562 cell by Hiperfect into human leukemia cell line K562, which has high survivin expression level. The level of survivin mRNA expression was determined by quantitative reverse transcription polymerase chain reaction (RT-PCR) with SYBR GREEN I. The apoptosis index of cytotrophoblasts were determined and analyzed by FCM (Annexin V-FITC/PI staining methods). The cell proliferation was examined by MTT at 48 h and 72 h after transfection.</p><p><b>RESULT</b>The level of mRNA expression was significantly inhibited by the siRNA 48 h and 72 h after transfection, the suppression rate of survivin mRNA separately reached 85.21%, 94.35% mensurated by quantitative RT-PCR with SYBR GREEN I, cell proliferation was inhibited significantly by 45.02% and 50.88%, respectively, the apoptotic rate detected by Annexin V-FITC assay reached 12.28%and 21.55%, respectively.</p><p><b>CONCLUSION</b>The chemosynthesized siRNA targeting survivin could significantly down-regulate survivin mRNA. Survivin siRNA was able to inhibit the proliferation of leukemia cell line K562. Survivin may become a new target for leukemia gene therapy.</p>

Clinical features and changes of 5-hydroxytryptamine in children with vasovagal syncope / 中华儿科杂志

<p><b>OBJECTIVE</b>To investigate clinical features of childhood vasovagal syncope (VVS) and the possible relationship between changes of plasma and platelet 5-hydroxytryptamine (5-HT) and childhood VVS.</p><p><b>METHOD</b>Forty-one children who were diagnosed as VVS because of positive head-up tilt test (HUTT) in Capital Institute of Pediatrics were enrolled as HUT-positive group, while 36 healthy children as control group. Clinical features of all children were analyzed, and blood samples of all children were obtained. Plasma and platelet 5-HT was measured by enzyme-linked immunosorbent assay (ELISA).</p><p><b>RESULT</b>(1) The mean age of 41 VVS children was (10.5 +/- 1.8) years, and there were more girls than boys with the boys to girls ratio of 1:1.4. (2) Presyncopal symptoms occurred in 33 patients (80.4%), among whom dizziness had a high rate: 78.8%. (3) Commonly, there were some provocation factors before syncope, among which long-time standing was the most common one with the rate of 91.7%. (4) The mean time of positive response in BHUT and SNHUT were (20.6 +/- 8.6) minutes and (5.0 +/- 2.2) minutes, respectively. Duration of syncope was shorter than 5 minutes. (5) HUTT positive response included vasodepressor type with the rate of 61.0%, cardioinhibitory type with 14.6%, and mixed type with 24.4%. (6) There were no significant differences in baseline heart rate, systolic blood pressure and diastolic blood pressure between VVS children and healthy children. And it was the same among different types of VVS children. (7) There were no significant differences in plasma 5-HT between VVS group of baseline or HUTT-positive and control group [(27.51 +/- 1.32) microg/L vs.(27.28 +/- 2.48)microg/L, t = 0.518, P = 0.606; (27.51 +/- 1.32) microg/L vs.(28.05 +/- 1.40) microg/L, t = 2.044, P = 0.167]. There were no significant differences in platelet 5-HT concentration between VVS group of baseline and control group [(82.30 +/- 6.06) 10(9) ng/L vs. (79.88 +/- 5.79) 10(9) ng/L, t = 1.788, P = 0.780].(8) HUTT-positive platelet 5-HT concentration of VVS children was significantly higher than baseline value [(97.90 +/- 6.59) 10(9) ng/L vs. (82.30 +/- 6.06) 10(9) ng/L, t = 11.26, P = 0.00].</p><p><b>CONCLUSION</b>There were no significant changes in plasma 5-HT in children with VVS during baseline, syncope or pre-syncope, which suggests that plasma 5-HT might not be valuable for the prediction of syncope trigger. However, platelet 5-HT of VVS children was obviously higher during syncope and presyncope, which suggests that central serotonergic system might be involved in the pathogenesis of VVS.</p>

Detection and analysis of the enterovirus infection within 159 cases of hand-foot-mouth disease by a real-time reverse transcription-PCR assay / 中华实验和临床病毒学杂志

<p><b>OBJECTIVE</b>To reveal the enterovirus infection within children suffering hand-foot-mouth disease (HFMD) in the Capital Institute of Pediatrics from Aprial to August, 2009, for the sake of clinical diagnosis and treatment.</p><p><b>METHODS</b>Both throat swab and vesicle fluid were taken respectively from 159 children with HFMD. And RNA were extracted from each sample followed with real-time fluorescence quantitative RT-PCR kits with three reagents: universal enterovirus primer, Coxsackievirus A16 (CA16) primer and enterovirus 71 (EV71) primer. Parts of postivive samples were sequenced and analyzed.</p><p><b>RESULTS</b>(1) EV genes were detected from 152 cases, of which, 102 cases were positive for CA16 and 43 were positive for EV71. (2) CV16:EV71 was 2.37:1. The positive rates of throat swabs and vesicle fluid samples were not statistically significant. (3) The PCR results were same with that of sequence analysis.</p><p><b>CONCLUSION</b>The hand-foot-mouth disease recently appeared in our hospital was mainly related to the EV71 or CA16 infection. And the percentage of EV71 infections obviously increased compared to that of 2007.</p>

Clinical and genetic characteristics of a patient with dyskeratosis congenita / 中华儿科杂志

<p><b>OBJECTIVE</b>To analyze the clinical features and gene mutation of a patient with dyskeratosis congenita, who was admitted in our hospital for thrombocytopenia.</p><p><b>METHOD</b>The clinical and laboratory data of a 4 years and 10 months old boy were summarized. DKC1 gene was analyzed using PCR amplification and DNA sequencing.</p><p><b>RESULT</b>The age of onset of the boy was 1 year. He presented with abnormal cutaneous pigmentation, nail dystrophy and mucosal leukoplakia accompanied by multi-system abnormalities. DKC1 (1058C-T, A353V) was detected in the patient.</p><p><b>CONCLUSION</b>The patient presented with classical features of dyskeratosis congenita and DKC1 (1058C-T, A353V) did exist in this patient. X-linked recessive dyskeratosis congenita was confirmed.</p>

Effect of topotecan on MAGE gene expression of HPB-AM cells / 中国当代儿科杂志

<p><b>OBJECTIVE</b>To investigate whether topotecan, a novel anti-tumor agent, down-regulates gene expression of melanoma antigen-encoding (MAGE) in HPB-AM cells.</p><p><b>METHODS</b>MAGE mRNA expression of HPB-AM cells was detected by RT-PCR 4, 8, 12 and 16 hrs after different concentrations (0.05, 0.10, 0.15 and 0.20 micromol/L) of topotecan treatment.</p><p><b>RESULTS</b>MAGE mRNA expression of HPB-AM cells decreased with increasing concentrations of topotecan 12 hrs after treatment. The MAGE mRNA expression of HPB-AM cells treated by 0.10, 0.15 and 0.20 micromol/L of topotecan was significantly lower than that in the blank control group (P<0.05). MAGE mRNA expression of HPB-AM cells was significantly reduced in a time-dependent manner after 0.10 micromol/L of topotecan treatment. The MAGE mRNA expression of HPB-AM cells treated by 0.10 micromol/L of topotecan was significantly lower than that in the blank control group 12 and 16 hrs after treatment (P<0.05).</p><p><b>CONCLUSIONS</b>Topotecan is capable of inhibiting the expression of MAGE mRNA of HPB-AM cells in a time- and dose-dependent manner.</p>

Survival and prognostic factors in resected satellite-nodule T4 non-small cell lung cancer / 中华外科杂志

<p><b>OBJECTIVE</b>To study the survival and prognostic implication in surgically resected satellite-nodule T4 (T4 satellite) non-small cell lung cancer (NSCLC).</p><p><b>METHODS</b>From January 1995 to March 2005, the complete resection was performed to 42 patients with NSCLC who were postoperatively identified as pathologic-stage T4 satellite. Survival and associations between clinicopathological parameters and prognosis were analyzed. Thirty-two patients with pathologic stage local-invasion T4 (T4 invasion) NSCLC who underwent resection at the same time were also analyzed.</p><p><b>RESULTS</b>The 1-, 3- and 5-year survival was 76.2%, 57.1% and 46.0% for patients with T4 satellite, while 62.3%, 31.5% and 20.0% for patients with T4 invasion. There was a significant higher survival in T4 satellite group when compared to that in T4 invasion group (P < 0.05). Furthermore, patients with T4 satellite N0M0 got a better survival than those with T4 satellite N1-2M0, T4 invasion N0M0 and T4 invasion N1 -2M0 (P < 0.05). For patients with T4 satellite, univariate analysis showed that histology, main tumor size, lymph node status and adjuvant chemotherapy were linked with survival, while main tumor size, lymph node status and adjuvant chemotherapy served as the independent prognostic factors with multivariate analysis.</p><p><b>CONCLUSIONS</b>Patients with completely resected T4 satellite NSCLC have a better prognosis than those with T4 invasion. Main tumor size over 3 cm, lymph node metastasis or no adjuvant chemotherapy means an unfavorable prognosis.</p>

Low-dose amiodarone for the prevention of atrial fibrillation after coronary artery bypass grafting in patients older than 70 years / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>Atrial fibrillation (AF) is one of the most common arrhythmia after coronary artery bypass grafting (CABG), which not only increases the suffering of the patients, but also prolongs hospital stay and enhances cost of care, especially for patients older than 70 years. This study was designed to evaluate the efficacy and safety of low-dose amiodarone in the prevention of AF after CABG, especially for the elderly.</p><p><b>METHODS</b>Two hundred and ten senile patients undergoing off-pump CABG were included in this prospective, randomized, double-blind and placebo controlled study. Patients were given 10 mg/kg of amiodarone (low-dose amiodarone group, n = 100) or placebo (control group, n = 110) daily for 7 days before surgery and followed by 200 mg of amiodarone or placebo daily for 10 days postoperatively.</p><p><b>RESULTS</b>Postoperative AF occurred in 16 patients (16%) receiving amiodarone and in 36 (37.7%) patients receiving placebo (P = 0.006). AF occurred at (58.13 +/- 16.63) hours after CABG in the low-dose amiodarone group and at (45.03 +/- 17.40) hours in the control group (P = 0.018). The maximum ventricular rate during AF was significantly slower in the low-dose amiodarone group ((121.42 +/- 28.91) beats/min) than in the control group ((134.11 +/- 30.57) beats/min, P = 0.036). The duration of AF was (10.92 +/- 9.56) hours for the low-dose amiodarone group compared with (14.81 +/- 10.37) hours for the control group (P = 0.002). The postoperative left ventricular ejection fraction (LVEF) was significantly improved in the low-dose amiodarone group (from (59.9 +/- 10.3)% to (63.4 +/- 11.4)%, P = 0.001), and significantly higher compared with the control group ((58.5 +/- 10.7)%, P = 0.002). Both groups had a similar incidence of complication other than rhythm disturbances (12.0% vs 16.4%, P = 0.368). The low-dose amiodarone group patients had shorter hospital stays ((11.8 +/- 3.2) days vs (13.8 +/- 4.7) days, P = 0.001) and lower cost of care (RMB (79 115 +/- 16 673) Yuan vs RMB (84 997 +/- 21 587) Yuan, P = 0.031) than that of control group patients. The in-hospital mortality was not significantly different between the two groups (1.0% vs 0.9%, P = 0.946).</p><p><b>CONCLUSIONS</b>Perioperative low-dose oral amiodarone appeared to be cost-effective in the prevention and delay of new-onset postoperative AF in aged patients. It significantly reduced ventricular rate and duration of AF after CABG, decreased hospital cost and stay, as well as promoted the amelioration of left ventricular systolic function. Furthermore, low-dose amiodarone was safe to use and well tolerated with low toxic and side effects, and did not increase the risk of complications and mortality. It is proved to be a first-line therapy and as routine prophylaxis for AF after CABG, especially for elderly patients complicated with left ventricular dysfunction.</p>

Study on the impact of the choice of diastolic Korotkoff phase in childhood on prediction to adult hypertension / 中华流行病学杂志

<p><b>OBJECTIVE</b>The best approach for blood pressure (BP) measurement in children remains controversial, especially on the choice of Korotkoff phase 4 (K4) vs. Korotkoff phase 5 (K5) for diastolic BP (DBP) and to compare the differences between K4 and K5 in school-aged children and their predictions to hypertension in adult.</p><p><b>METHODS</b>The "Beijing children and adolescents BP study" cohort population consisted 2505 school-aged children aged 6 to 17 at baseline survey in 1987, when datum of systolic BP (SBP), DBP measured using K4 and K5, were collected respectively. Among them, 412 individuals with 220 males and 192 females at age of 23-37 years old, were successfully followed up and invited to take part in a clinical examination including anthropometric measurements, SBP and DBP recordings, and a questionnaires in 2005. Method for the BP measurements at both baseline and followed-up was by auscultation with a standard sphygmomanometer. Child hypertension at baseline was diagnosed according to the age-specific cutoffs recommended by the World Health Organization in 1996 (WHO 1996). Adult hypertension was diagnosed according to the China Guideline for Hypertension Prevention and Control issued in 2005. Partial correlation coefficients were calculated to describe the association of K4 and K5 in childhood with SBP and DBP level in adulthood. Multivariate logistic regression analysis was conducted to examine the impact of choice of K5 and K4 as DBP in childhood on prediction to the hypertension in adulthood. Potential confounders such as gender and adult-height were controlled for.</p><p><b>RESULTS</b>At baseline, the prevalence rates of hypertension were 5.0% with DBP measured using K4, and 2.4% with DBP measured using K5, respectively. The geometric mean difference value of K4 minus K5 (K4 - K5) was (10.1 +/- 1.7 mm Hg) (1 mm Hg = 0.133 kPa) for the 2505 school-aged children, and decreased as age increased. There was no significant difference regarding the values of K4 - K5 between males and females in all age groups except for children who at pubertal stage. The distribution of K4 - K5 value across age groups was statistically significant (P < 0.001), 59.6%, 60.5%, 56.3% and 45.1% of children who aged 6-9 years, 10-12 years, 13-15 years, and 16-17 years with their K4 - K5 value over 10 mm Hg. K4 in childhood was better correlated to both SBP and DBP in adulthood than K5. In general, K4 seemed to be superior to K5 in predicting hypertension in adulthood. The odds ratios of hypertension in adulthood were 1.69 (95% CI: 1.11-2.00), 1.45 (1.05-2.02), 2.18 (1.37-3.47), and 1.66 (1.07-2.59) with each 5 mmHg increasing of K4 measured in children aged 6-9 years, 10-12 years, 13-15 years, and 16-17 years, respectively. The agreement diagnosis between child hypertension and adult hypertension was higher for childhood DBP measured using K4 (20.2%) than that using K5 (12.8%).</p><p><b>CONCLUSION</b>There was significant difference between K4 and K5 in Chinese children and adolescents. Choice of diastolic Korotkoff blood pressure could affect DBP tracking from childhood into adulthood. K4 seemed superior to K5 when using auscultator technique to measure DBP.</p>

Video-assisted thoracoscopic extended thymectomy for myasthenia gravis / 中华外科杂志

<p><b>OBJECTIVE</b>To investigate the outcome of video-assisted thoracoscopic extended thymectomy (VATET) for myasthenia gravis.</p><p><b>METHODS</b>From January 2005 to February 2006, VATET had been performed for 41 patients of myasthenia gravis. Among them, 23 patients were female and 18 were male. The age ranged from 18 to 67 years old, and the disease duration ranged from 1 month to 3 years. In order to achieve maximal benefit, a transverse cervical incision was given access to the peri-thyroid space to remove fat in the neck which may contain ectopic thymus after all thymic tissue, including far-reaching ectopic sites. Peri-thymic adipose tissue in the anterior mediastinum was completely removed.</p><p><b>RESULTS</b>In the 41 patients, mean operative time was 162 min. Sever patients sustained myasthenic crises that required reintubation and mechanical ventilation for a few days. Of all patients, 35 had lymphadenectasis, and 4 had ectopic thymus in the peri-thyroid space. After the 2 years' follow-up, the rate of complete stable remission was 41.4%, and the effective rate was 85.4%.</p><p><b>CONCLUSIONS</b>Video-assisted thoracoscopic thymectomy represents a safe and valid approach for patients with myasthenia gravis. VATET may be a complement to completely remove all thymus including ectopic tissues.</p>

Intraoperative esophageal manometry employed in the course of Heller's cardia-myotomies / 中华外科杂志

<p><b>OBJECTIVE</b>To study the changes of lower esophageal sphincter (LES) high-pressure zone, and to determine the accurate length of myotomy on the esophageal and gastric sides.</p><p><b>METHODS</b>There were 15 patients undergoing the Heller's cardia-myotomies and Toupet fundoplications from May 2006 to December 2007. Among them, 9 patients were female and 6 was male. The age ranged from 28 to 61 years old, and the disease duration ranged from 6 months to 9 years. The intraoperative oesophageal manometry underwent in the surgical procedures to investigate the changes of the lower esophageal sphincter pressure and the length of myotomy.</p><p><b>RESULTS</b>There was no postoperative death. After (5.3 +/- 1.5) cm of esophageal side myotomy and (0.8 +/- 0.4) cm of gastric side myotomy, the mean LES pressure decreased from (33.6 +/- 13.3) mm Hg (1 mm Hg = 0.133 kPa) to (9.7 +/- 4.6) mm Hg and (4.8 +/- 3.1) mm Hg respectively (P < 0.05). The lower esophageal sphincter length ranged from 5 to 8 cm.</p><p><b>CONCLUSION</b>Intraoperative esophageal manometry helps determine the accurate myotomy length of myotomy on the esophageal and gastric sides of the gastroesophageal junction and provides valuable information for the Heller's myotomy.</p>