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陈 芳
Asian Case Reports in Pediatrics, Volume 09, pp 1-7; https://doi.org/10.12677/acrp.2021.91001

Abstract:
目的:了解不完全性川崎病合并嗜血细胞综合征的发生发展过程,提高对该疾病的认识和警惕。方法:回顾分析1例婴幼儿免疫球蛋白治疗无反应型不完全性川崎病合并嗜血细胞综合征的临床资料。结果:该2岁大男性患儿入院时符合不完全川崎病诊断,两次免疫球蛋白冲击治疗无效,仍反复高热,最后发展为嗜血细胞综合征,出现血常规提示3系下降、肝功能异常、血清铁蛋白升高等,骨髓细胞学检测可见噬血现象等,最后按HLH-04化疗方案治疗好转出院。结论:不完全性川崎病免疫球蛋白治疗无效,应早期激素或免疫抑制剂治疗,并提高对该病的早期识别及干预,早期阻断该病发展为嗜血细胞综合征。 Objective: To understand the occurrence and development of incomplete Kawasaki disease with the hemophagocytic syndrome, and to raise awareness and vigilance of the disease. Method: The clinical data of incomplete Kawasaki disease with the hemophagocytic syndrome in a 2-year-old boy was retrospectively analyzed. Results: We report here a case of a 2-year-old boy with incomplete Kawa-saki disease which resistant to two doses of immunoglobulins and have recurrent hyperthermia. Eventually develop into hemophagocytic syndrome, in which blood tests demonstrated blood rou-tine showed the decline of 3 lines, abnormal liver function, elevated serum ferritin, and hemopha-gocytosis features on bone marrow aspirate. Finally, recovery was obtained with the HLH-04 chem-otherapy regimen. Conclusion: When the immunoglobulin therapy for incomplete Kawasaki disease is ineffective, early glucocorticoid or immunosuppressive therapy should be used. Besides, we should improve the early recognition and intervention of the disease, and block the development of the disease into hemophagocytic syndrome.
馨陈 虹
Asian Case Reports in Pediatrics, Volume 09, pp 9-17; https://doi.org/10.12677/acrp.2021.92002

Abstract:
# 目的:探讨儿童急性淋巴细胞白血病(Acute lymphoblastic leukemia, ALL)合并肺孢子肺炎(Pneumocystis pneumonia, PCP)与艾滋病(Acquired immunodeficiency syndrome, AIDS)合并PCP在临床症状、影像学及治疗方面的不同。方法:回顾性分析我院2015年至今经病原学确诊为PCP的ALL患儿,与从CNKI数据库、万方资源数据库、PubMed数据库、Science Online数据库中以“艾滋病/AIDS”、“肺孢子肺炎/Pneumocystis pneumonia”为关键词检索AIDS合并PCP的相关文献,比较两类患者的临床症状、影像学表现及治疗。结果:我院2例确诊为ALL合并PCP,余疑似病例在经验性用药后均治愈。2例病例起病时均有发热伴干咳、气促,双肺可闻及少量湿啰音,血氧饱和度下降,使用无创辅助通气治疗可维持正常,乳酸脱氢酶(LDH)无明显上升,HRCT均呈斑片状密度增高影,1例出现实变影,另1例出现散在结节状致密影。2例均行纤维支气管镜肺泡灌洗,高通量检查确诊为PCP,予卡泊芬净、TMP-SMZ、糖皮质激素治疗后好转。结论:ALL合并PCP与AIDS合并PCP的临床症状、影像学表现及治疗基本一致,但ALL合并PCP起病时LDH无明显上升,肺部阳性体征较AIDS合并PCP更为常见。 Objective: The objective is to explore the differences in clinical symptoms, imaging and treatment between childhood acute lymphoblastic leukemia (ALL) combined with Pneumocystis pneumonia (PCP) and AIDS combined with PCP. Methods: A retrospective analysis of childhood ALL diagnosed with PCP in our hospital from 2015 to the present, was compared with literature searched by “艾滋病/AIDS” and “卡氏肺孢子虫肺炎/Pneumocystis pneumonia” as keywords from CNKI database, Wanfang Resource database, PubMed database and Science Online database, to find out the differences in clinical symptoms, imaging manifestations and treatment of the two types of patients. Results: Two patients in our hospital were diagnosed with ALL combined with PCP, and the remaining suspected patients were cured after empirical treatment. Both patients had fever with dry cough and shortness of breath of onset, a few moist rales over lung fields and oxygen saturation decreased. Both could maintain the normal arterial oxygen with the help of non-invasive ventilation. Lactate dehydrogenase (LDH) didn’t increase significantly. Both HRCT showed patchy opacities, one case had consolidation, and the other had scattered nodules. Patients underwent fiberoptic bron-choscopies and bronchoalveolar lavage, high-throughput examination confirmed the diagnosis of PCP, and both improved after the treatment with caspofungin, TMP-SMZ, and glucocorticoids. Conclusion: The clinical symptoms, imaging manifestations and treatment of ALL combined with PCP and AIDS combined with PCP are similar, but LDH does not increase significantly at the onset of ALL combined with PCP, and positive lung signs are more common than AIDS combined with PCP.
华郑 琴
Asian Case Reports in Pediatrics, Volume 8, pp 33-39; https://doi.org/10.12677/acrp.2020.84007

Abstract:
目的:探讨分析急性淋巴细胞白血病患儿在诱导缓解化疗过程中并发颅内静脉窦血栓的相关危险因素及后续治疗。方法:回顾性分析南方医院2例急性淋巴细胞白血病患儿在VDLP诱导缓解化疗过程中并发颅内静脉窦血栓形成的临床表现及形成血栓的危险因素及相关治疗,并结合文献进行分析。结果:2例患儿在我院完善骨髓MICM,明确诊断为急性淋巴细胞白血病,予CCCG-ALL-2015方案开始VDLP诱导缓解化疗,诱导过程1例出现抽搐、小便失禁、意识不清,伴有凝血功能异常。1例反复出现头痛伴非喷射性呕吐,两例患儿进行头颅MRI支持颅内静脉窦血栓形成,给予抗凝治疗后病情好转,顺利进行后续巩固治疗。讨论:随着化疗方案不断优化,儿童ALL缓解率已可达90%以上,总体生存率已达80%以上。特别是近年来左旋门冬旋胺酶和培门冬酶的应用,进一步提高了急性淋巴细胞白血病化疗过程中的缓解率及无病生存率,但关注化疗带来益处的同时也应密切关注并发症的发生。其中血栓栓塞性疾病并未得到相应的关注。在小儿恶性肿瘤中,ALL是最易发生血栓的恶性肿瘤,不仅是急性淋巴细胞白血病疾病本身,特别是在VDLP诱导过程中泼尼松联合门冬酰胺酶诱导过程中最易发生。患儿在化疗过程中出现头痛、抽搐、呕吐等应及时完善头颅CT、头颅MRI。可及时发现病情,及早诊断,及时有效治疗可减少相关后遗症的发生。 Objective: To investigate the risk factors and subsequent treatment of intracranial venous sinus thrombosis (CVT) in children with acute lymphoblastic leukemia (ALL) during induction remission chemotherapy. Methods: The clinical manifestations, risk factors and related treatments of intra-cranial venous sinus thrombosis during VDLP induced remission chemotherapy in 2 children with acute lymphoblastic leukemia in Nanfang Hospital were analyzed retrospectively, and the literature was combined for analysis. Results: The bone marrow MICM of 2 children was improved in our hos-pital and was clearly diagnosed as acute lymphoblastic leukemia. VDLP induced remission chemo-therapy was started with THE CCCG-ALL-2015 regimen. During the induction process, 1 child had convulsions, urinary incontinence, confusion, and abnormal coagulation function. One case had re-current headache with non-ejection vomiting, and two cases underwent cranial MRI to support in-tracranial venous sinus thrombosis. After anticoagulant treatment, the condition was improved, and subsequent consolidation treatment was carried out successfully. Discussion: With the contin-uous optimization of chemotherapy regimens, the remission rate of ALL in children has reached more than 90%, and the overall survival rate has reached more than 80%. Especially in recent years, the application of l-aspartase and peraspartase has further improved the remission rate and disease-free survival rate in the course of chemotherapy for acute lymphoblastic leukemia. However, it is necessary to pay close attention to the occurrence of complications while paying attention to the benefits of chemotherapy. Thromboembolic diseases have not received corresponding attention. Among malignant tumors in children, ALL is the most prone to thrombosis, not only in acute lym-phoblastic leukemia itself, but especially in the induction of prednisone combined with asparagi-nase during VDLP. In the course of chemotherapy, headache, convulsion, vomiting and other symp-toms, cranial CT and cranial MRI should be timely perfected. Timely detection of disease, early di-agnosis, timely and effective treatment can reduce the occurrence of related sequelae.
焱伍 华
Asian Case Reports in Pediatrics, Volume 8, pp 1-6; https://doi.org/10.12677/acrp.2020.81001

Abstract:
目的:探讨儿童腹膜后畸胎瘤的临床及诊治特点。方法:回顾性分析1例儿童腹膜后畸胎瘤患儿的一般临床资料、辅助检查及治疗过程。结果:对患儿行开腹探查,切除肿瘤,术后病理报告为成熟性囊性畸胎瘤。结论:儿童腹膜后畸胎瘤早期多无明显症状,诊断主要依靠影像学检查,诊断明确后应及时手术治疗。 Objective: To investigate the clinical feature and diagnose treatment experiment of pediatric retroperitoneal teratoma. Methods: We retrospectively analyzed the clinical data, auxiliary examination results and treatment process of a child with retroperitoneal teratoma in our hospital. Results: The postoperative pathology was a mature cystic teratoma after surgical resection. Conclusion: Retroperitoneal teratoma in children always presents no obvious symptoms in the early state, and it could be diagnosed mostly depending on imaging examination. Surgical treatment should be timely after definite diagnosis.
雯宋 木
Asian Case Reports in Pediatrics, Volume 8, pp 18-22; https://doi.org/10.12677/acrp.2020.82004

Abstract:
川崎病(Kawasaki disease, KD)是一种以全身性血管炎为特征的急性自限性疾病,病因尚不清楚,静脉注射丙种球蛋白(intravenous immunoglobulin, IVIG)联合阿司匹林治疗可缓解川崎病的炎症反应,但仍有部分患者对治疗无反应,本文主要针对英夫利昔单抗在IVIG无反应型川崎病中的应用进行综述。 Kawasaki disease is an acute self-limited disease characterized by systemic vasculitis; etiology is unclear; intravenous immunoglobulin and aspirin therapy can alleviate the inflammation of Kawasaki disease, but there are still some patients do not respond to treatment. This review focuses on the application of infliximab in IVIG reactive Kawasaki disease.
张 雷
Asian Case Reports in Pediatrics, Volume 8, pp 13-17; https://doi.org/10.12677/acrp.2020.82003

Abstract:
目的:提高对儿童急性淋巴细胞白血病合并可逆性后部脑病综合征的认识。方法:回顾分析南方医院收治的2名急性淋巴细胞白血病合并可逆性后部脑病综合征的临床资料,并结合文献进行分析。结果:2名患儿在急性淋巴细胞白血病治疗过程中出现意识障碍、高血压、抽搐等症状。头颅MRI显示双侧顶、枕、颞叶皮层或皮层下长T2信号。经过降压等对症处理后症状缓解。结论:PRES发病机制是多方面的,早期诊断、早期治疗可使病情在短期内逆转。 Objective: To improve recognition of acute lymphoblastic leukemia with posterior reversible en-cephalopathy syndrome in children. Method: Two ALL children with PRES admitted to Nanfang Hospital were included. Clinical data were retrospectively studied and related literatures were re-viewed. Result: During the treatment of acute lymphoblastic leukemia, 2 children developed symptoms of consciousness disorder, hypertension and convulsion. Cranial MRI showed bilateral parietal, temporal and occipital cortical or subcortical lesions with hypointensity on T2-weighted imaging. Clinical symptoms were resolved soon after supportive care such as anti-hypertension. Conclusion: The pathogenesis of PRES is multifaceted. Early diagnosis and treatment are very im-portant.
师 琴
Asian Case Reports in Pediatrics, Volume 8, pp 23-27; https://doi.org/10.12677/acrp.2020.83005

Abstract:
目的:探讨猫抓病的临床特征及诊断方法。方法:回顾性分析7例猫抓病患者的流行病学资料、临床表现、辅助检查结果和诊断等。结果:7例患者中,2例患者有明确长期与猫、狗密切接触史。7例患者均表现为淋巴结肿大或局部肿块,质地中等或硬;7例患者CRP均升高,6例患者血沉加快;7例患者入院疑诊淋巴瘤或淋巴结核或转移癌2例,淋巴瘤1例,淋巴结炎1例,颌下腺混合瘤1例,腋下肿物查因2例,所有患者淋巴结活检均提示:淋巴结肉芽肿性炎。结论:猫抓病临床表现多样,一般全身症状多轻微,最常见的临床表现是淋巴结肿大,多有触痛,多表现为CRP升高,血沉增快,易漏诊误诊,该病抗生素治疗有效。 Objective: To explore the clinical characteristics and diagnosis of cat scratch disease. Methods: The epidemiological data, clinical manifestations, auxiliary examination results and diagnosis of 7 cases of cat scratch disease were analyzed retrospectively. Results: Of the 7 patients, 2 had a long history of close contact with cats and dogs. All the patients presented with lymphadenopathy or local mass with medium or hard texture; 7 patients had elevated CRP and 6 patients had accelerated ESR; 7 patients had suspected lymphoma or lymphadenitis or metastatic cancer in 2 cases, lymphoma in 1 case, lymphadenitis in 1 case, mixed tumor in submandibular gland in 1 case, and axillary mass in 2 cases. All the patients had lymphadenitis granulomatous. Conclusion: The clinical manifestations of cat scratch disease are various, and the general systemic symptoms are mostly mild. The most common clinical manifestations are lymphadenopathy, tenderness, high CRP, rapid ESR, easy misdiagnosis and missed diagnosis.
赵 娇
Asian Case Reports in Pediatrics, Volume 8, pp 28-31; https://doi.org/10.12677/acrp.2020.83006

Abstract:
目的:探讨婴幼儿湿疹合并卡波西水痘样疹临床及诊治特点。方法:回顾性分析苏州科技城医院收治的1例婴幼儿卡波西水痘样疹的临床资料,并结合文献进行分析。结果:婴幼儿湿疹治疗及护理不当可继发卡波西水痘样疹。结论:卡波西水痘样疹患儿早期使用阿昔洛韦联合丙种球蛋白治疗可以减轻病毒对机体的损害,缩短病程,促进皮疹愈合及脱落。 Objective: To investigate the features of clinical, diagnosis and treatment in infants eczema with kaposi’s varicella eruption. Method: An infant with Kaposi’s varicella eruption admitted to Suzhou Science and Technology Town Hospital is included. Clinical data were retrospectively studied and related literatures were analyzed. Result: Improper treatment and care of infants with eczema will lead to Kaposi varicelliform eruption. Conclusion: Early treatment with acyclovir combined with gamma globulin in infants with kaposi varicelliform eruption can reduce the damage of the virus, shorten the course of the disease, and promote the healing and shedding of the rash.
琪姚 安
Asian Case Reports in Pediatrics, Volume 8, pp 7-11; https://doi.org/10.12677/acrp.2020.81002

Abstract:
目的:探讨高IgM综合症病因、临床表现、诊断和治疗。方法:对我科诊断X连锁高IgM综合症患者的临床资料进行回顾及分析。结果:患者因生后反复多次感染住院,多次血常规示中性粒细胞计数降低,多次免疫球蛋白检查示无IgA和IgG降低,且IgM正常,基因检测示CD40L基因突变,诊断为X连锁高IgM综合症。结论:在临床工作中,易出现反复感染伴中性粒细胞计数减少的患儿,需警惕免疫缺陷病。 Objective: To investigate the causes, clinical manifestation, diagnosis and treatment of Hyper-IgM syndrome. Methods: The clinical data of one child with X-linked hyper-IgM syndrome diagnosed by our department were analyzed retrospectively. Results: The child was admitted to hospital due to repeated infection after birth. Repeated blood tests showed decreased neutrophils count, repeated immunoglobulin tests showed no IgA or IgG decrease, and IgM was normal. Gene tests showed CD40L gene mutation, which was diagnosed as X-linked hyper-IgM syndrome. Conclusion: In clinical practice, children prone to recurrent infection with decreased neutrophils count need to alert to immunodeficiency disease.
明曲 亚
Asian Case Reports in Pediatrics, Volume 7, pp 35-41; https://doi.org/10.12677/acrp.2019.74006

Abstract:
目的:探讨NICU收治的维、汉族新生儿听力筛查未通过的影响因素,为听力障碍早期干预策略提供依据。方法:新疆自治区妇幼保健院NICU2017年1月~2017年12月收治维族、汉族各524、1533例高危儿作为研究对象。采用TEOAE在生后72小时进行听力初筛,对病例进行疾病构成比、听力未通过疾病构成比分析,通过χ2检验,比较维、汉族新生儿听力筛查未通过的影响因素。结果:新生儿听力筛查未通过率,维、汉族为25.19%、12.26%。以早产或极低体重、宫内感染、高胆红素血症、窒息、肺炎、妊娠糖尿病、胎粪吸入综合征、溶血病、湿肺为序,维、汉族疾病构成比(%)为42.37、10.11、19.27、8.78、4.96、7.25、2.48、1.91、2.86;27.40、8.35、39.86、4.24、3.98、10.37、2.41、1.76、1.63,两者构成有差异(P Objective: To analyze the results of Uygur and Han newborn hearing screening in neonatal intensive care unit (NICU) and to investigate the effective factors affecting hearing screening. Methods: Both 524 Uyghur and 1533 Han newborns in NICU received hearing screening test by transient evoked otoacoustic emission (TEOAE) and the effective factors were investigated. Chi-square test was used to analyze the differences of unpassed rate and the effective-factors, respectively. Results: The constituent ratio of premature, intrauterine infection, hyperbilirubinemia, asphyxia, pneumonia, gestational diabetes, meconium aspiration syndrome, neonatal hemolytic disease and wet lung in NICU Uygur newborns was as 42.37, 10.11, 19.27, 8.78, 4.96, 7.25, 2.48, 1.91 and 2.86 respectively, and the corresponding disease constituent ratio of Han newborns was 27.40, 8.35, 39.86, 4.24, 3.98, 10.37, 2.41, 1.76 and 1.63 and there was statistically significance (P
颂单 光
Asian Case Reports in Pediatrics, Volume 7, pp 1-6; https://doi.org/10.12677/acrp.2019.71001

Abstract:
目的:提高对先天性中枢性低通气综合征(CCHS)临床表现、诊断及治疗的认识。方法:分析总结1例于我院住院治疗的伴有肺动脉高压的CCHS患儿的临床资料,并进行文献复习。结果:患儿初次入院以肺动脉高压为首发症状,入院时面罩吸氧下氧饱和度难以维持正常,遂予机械通气,病情平稳后撤机出院,但患儿短时间内多次因呼吸道感染、低氧血症入院治疗,期间存在呼吸机撤机困难及夜间自主呼吸差等症状,除外肺部原发病以及神经肌肉功能障碍等疾病后,完善全外显子基因检测,PHOX2B基因存在变异,结合患儿临床表现及基因检测结果诊断为先天性中枢性低通气综合征,经无创正压通气及支持治疗后,患儿肺动脉压力下降明显,氧和可维持基本稳定,生活质量明显改善。结论:CCHS患儿经无创双水平正压通气治疗后可显著改善预后。 Objective: To describe the clinical characteristics of congenital central hypoventilation syndrome (CCHS) with pulmonary hypertension. Methods: We retrospectively analyzed a patient with CCHS who presented with pulmonary hypertension and review of the literature. Results: The patient presented with pulmonary hypertension at the time of first hospitalization, and echocardiogram revealed enlarged right ventricle and atrium, in spite of activity measures including mechanical ventilation and supportive treatment, the patient had persistent cyanosis and dyspnea, the patient proceeded with genetic testing. A genetic research was performed by polymerase chain reaction for CCHS screening, which showed the mutated allele of PHOX2B gene, confirming the diagnosis. After non-invasive positive pressure ventilation treatment, the patient thrived with normal growth and development. Conclusion: The present paper illustrates that the most effective and common method of treatment for CCHS is non-invasive bi-level positive pressure ventilation.
红吕 菊
Asian Case Reports in Pediatrics, Volume 7, pp 7-14; https://doi.org/10.12677/acrp.2019.72002

Abstract:
目的:分析血浆NBNP水平测定对KD患儿临床诊断价值,旨在为相关临床与研究工作提供参考。方法:采用病例对照方法,以KD组为病例组,以同期呼吸道感染住院患儿为对照组,检测结果采用统计学有关方法进行分析。结果:病例组(KD)急性期NBNP水平(1573.51 pg/L ± 237.06 pg/L)明显高于对照组(226.07 pg/mL ± 87.68 pg/mL),二者之间具有显著性差异,P 300 pg/mL对诊断KD的敏感性为95.56%,特异性为94.17%。结论:血浆NBNP水平测定在KD临床诊断具有一定特异性和敏感性,可作为临床诊断儿童KD的重要参考指标。 Objective: To analyze the value of plasma N-terminal brain natriuretic peptide level in the clinical diagnosis of children with Kawasaki disease, and to provide reference for relevant clinical and re-search work. Methods: The case-control method was used. The Kawasaki disease group was used as the case group. The hospitalized children with respiratory infection at the same time were used as the control group. The test results were analyzed by statistical methods. Results: The NBNP level (1573.51 pg/L ± 237.06 pg/L) in the acute phase of the case group was significantly higher than that in the control group (226.07 pg/mL ± 87.68 pg/mL), and there was a significant difference between the two, P 300 pg/mL to diagnosis of KD was 95.56% and the specificity was 94.17%. Conclusion: The determination of plasma NBNP level has certain specificity and sensitivity in the clinical diagnosis of KD, and it can be used as an important reference index for clinical diagnosis of KD in children.
杨张 正
Asian Case Reports in Pediatrics, Volume 6, pp 13-18; https://doi.org/10.12677/acrp.2018.62003

Abstract:
目的:探讨促红细胞生成素(EPO)治疗宫内感染致早产儿脑损伤中的疗效。方法:选择2017年6月至2017年12月于我院产科分娩的早产儿96例,对孕母胎盘、胎膜行病理检查,确定是否存在宫内感染(绒毛膜羊膜炎);采用ELISA法测定早产儿血清中细胞因子IL-1β、IL-6、TNF-α、IL-10水平;早产儿生后3~7天行颅脑MRI,通过头颅影像学表现判断是否存在脑损伤;筛选出存在宫内感染并脑损伤的患儿给予EPO治疗,2周后再次检测血清细胞因子水平。结果:1) 脑损伤发生率:胎盘病理诊断为绒毛膜羊膜炎组为67.5% (27/40例),无感染组为16.1% (9/56例),比较两组脑损伤发生率,差异有统计学意义(P Objective: To investigate the effect of postnatal EPO treatment on brain damage in premature infants caused by intrauterine infection. Methods: Ninety-six preterm infants delivered from June 2017 to December 2017 in our department of obstetrics were enrolled. The placenta of the pregnant mothers was examined for chorioamnionitis to determine whether there was intrau-terine infection. Enzyme-linked immunosorbent assay (ELISA) was used. The levels of cytokines IL-1β, IL-6, TNF-α, and IL-10 in serum of preterm infants were measured. Brain MRI was per-formed 3 - 7 days after birth in preterm infants. Brain imaging was performed to determine whether there was brain injury. Children with internal infection and brain injury were treated with EPO and serum cytokine levels were measured again after 2 weeks. Results: 1) The inci-dence of brain injury in children with placenta pathology diagnosed as chorioamnionitis was 67.5% (27/40 cases), and the prevalence of brain injury in non-chorionic amnion group was 16.1% (9/56 cases). The difference in prevalence was statistically significant (P
李 阳
Asian Case Reports in Pediatrics, Volume 6, pp 27-34; https://doi.org/10.12677/acrp.2018.63005

Abstract:
目的:报告1例FBN1基因新生突变所致的Geleophysic发育不良2型(GD2),探讨GD临床诊治特点,为GD患儿的早期发现、早期诊断提供依据。方法:总结患儿临床特征表型、实验室检查、基因测序结果,并对FBN1基因突变导致的GD病例进行文献复习。结果:本例患儿男,10岁11月,因“身材矮小”初诊,主要表现为身材矮小、特殊面容、心脏瓣膜病、手指关节僵硬和骨骼发育不良。遗传病综合基因测序发现FBN1新生基因突变,核苷酸改变为c.5284G>A,氨基酸改变为p.Gly1762Ser。检索Pubmed数据库、万方数据库、中国知网、OMIM数据库,检索时间从建库至2017年12月,共检索到23篇文献,其中筛选出6篇英文文献共有32例由FBN1基因导致的GD病例报道,与本文1例合并后共33例。对该病的病因、临床表型、诊断和治疗随访进行了文献综述。结论:GD在临床罕见,极易误诊和漏诊,身材矮小合并短手短脚、心脏瓣膜病及关节僵硬时,应高度警惕GD的可能性。诊断GD后对患儿需长期多学科监测随访。 Objective: To report a geleophysic dysplasia type 2 (GD2) caused by FBN1 gene mutation, provide the clinical features of early diagnosis in patients with GD. Method Analysis was performed on clinical manifestation, imageological examination and parental Sanger test of a patient carrying novel mutation of FBN1, and literatures about clinical features of GD. Results: A 10-year-and-11-month-old boy referred to the growth and development clinic for short stature. Major clinical manifestations are short stature, special face, heart valvular disease, digits joint stiffness and skeletal dysplasia. A pair of novel heterozygous mutation of FBN1 was found by gene sequencing. Nucleotide change is c.5284G>A and amino acid change is p.G1762S (Gly to Ser). Databases were searched including Pubmed Database, Wan Fang Database, CNKI Database, OMIM Database from database-building time to December 1, 2017 by the use of key words “geleophysic dysplasia” and “FBN1”. A total of 23 articles were retrieved and 6 English articles (32 cases) were screened out, including three familial cases. Conclusion: Geleophysic dysplasia (GD) is a rare skeletal disorder, which is liable to cause delayed diagnose and misdiagnosis. Careful examination is recommended for patients with heterogeneity short stature, short hand and feet, special face, heart valvular disease and joint stiffness. We should provide multidisciplinary monitoring to GD patients, like ultrasonic cardiogram, abdominal ultrasound, pulmonary function and so on.
琪徐 倚
Asian Case Reports in Pediatrics, Volume 6, pp 35-39; https://doi.org/10.12677/acrp.2018.64006

Abstract:
当下难治复发急性淋巴细胞白血病(ALL)不管在成人还是儿童中均面临着较差预后的治疗挑战,而整合素α4基本表达于所有淋巴细胞表面,且是参与细胞粘附介导耐药(CAM-DR)机制中重要组成部分,故本文将从CAM-DR在难治复发ALL中的作用、整合素α4介导的CAM-DR效应、拮抗整合素α4在治疗难治复发ALL的意义三方面展开综述,为治疗难治复发ALL病人提供一种新的治疗思路。 Chemotherapeutic drug resistance or relapse in acute lymphoblastic leukemia (r/r ALL) is a chal-lenging problem, resulting in poor prognosis. Integrin alpha 4 plays a critical role in mechanism of cell adhesion-mediated drug resistance (CAM-DR), while expressing on most leukocyte surface broadly including lymphoblastic leukemia cell. We here review the mechanism of CAM-DR in r/r ALL, the role of integrin alpha 4 in mechanism of CAM-DR and the targeting of integrin alpha 4 as a novel strategy for treatment of r/r ALL.
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