Recent progress in diagnosis and treatment of osteogenesis imperfecta

Osteogenesis imperfecta (OI) is an inheritable disorder characterized by bone fragility with various symptoms of connective tissue disorders. OI is commonly classified by Sillence's classification into four types according to the clinical features. The cardinal symptom is pathologic fracture, which is often recognized before birth, is frequent during infancy and childhood, then decreases at puberty. Bone mineral density is markedly decreased in OI, especially of the lumbar spine. Bone deformities are frequently observed in the long bones of the extremities, and spinal deformities and compression fractures are also common. Growth retardation is extremely severe, especially in type III. Calcitonin has been the most common therapy for OI. Recently, bisphosphonates have been found to be potent drugs that increase bone mass in OI patients. To prevent further fracture or bone deformity, appropriate orthopedic managements, including intramedullary rodding, are critically important. Growth hormone is effective in stimulating bone growth during childhood. The pathogenesis of OI is quantitative or qualitative abnormalities of type I collagen. The clinical features of each type usually correspond to the type of mutation. Several possibilities for gene therapy have been proposed.     

新生儿败血症诊断新进展

新生儿败血症（septicemia）是新生儿时期主要致死病因之一。国外常以发病时间为界将新生儿败血症分为早发型和晚发型。西方发达国家早发型败血症常见致病菌为B组链球菌和大肠杆菌,晚发型败血症则以凝固酶阴性葡萄球菌最常见,这与国内情况有一定差异。新生儿败血症临床表现不典型,常易被漏诊和误诊。本文主要对病原菌培养、外周血象、各种细胞因子、脐带血等新生儿败血症相关检查研究进展进行综述,为新生儿败血症早期诊治提供帮助。     

Recent progress in non-invasive prenatal diagnosis

Although the first finding that fetal cells can enter the maternal circulation was made more than a century ago, it is still unclear if this finding will be translated into a clinically useful diagnostic tool in the foreseeable future. However, significant progress has been made via the analysis of cell-free fetal DNA in maternal plasma/serum and clinical services are now already being offered for the determination of fetal rhesus D status and sex. Currently, however, this technology is really only suited for the analysis of fetal genetic loci completely absent from the maternal genome. The detection of more subtle fetal genetic traits, such as point mutations involved in Mendelian disorders (thalassaemia, cystic fibrosis), is considerably more complex. Preliminary reports indicate that the detection of fetal aneuploidies might be possible using epigenetically modified genes, e.g. maspin on chromosome 18. Additionally, an exiting recent development is that it might be feasible to detect Down syndrome via the quantitative assessment of placentally derived cell-free mRNA of chromosome-21-specific genes such as PLAC4.     

Impact of laparoscopy for diagnosis and treatment in patients with disorders of sex development

ObjectiveTo review laparoscopy in patients with disorders of sex development (DSD) in order to clarify its usefulness in diagnosis, devising subsequent therapeutic strategies and managing patients with various conditions.Patients and methodsBetween April 1992 and December 2012, 29 laparoscopic surgeries were performed in 25 DSD patients. Among them, ten were diagnostic laparoscopy including gonadal biopsy, and 19 were therapeutic laparoscopy. Surgical procedures and complications were evaluated.ResultsFor diagnostic laparoscopy, laparoscopic gonadal biopsy was performed in three patients. Inspection, with or without open gonadal biopsy, was performed on four out of seven patients with 46XY DSD or mixed gonadal dysgenesis (MGD). Additional surgery was planned and performed based on diagnostic laparoscopic findings in six out of seven patients. In the three patients with ovotesticular DSD, the gonadal pathology was diagnosed as: testis/ovary in one, testis/ovotestis in one and ovary/ovotestis in one – this was from the laparoscopic inspection and/or gonadal biopsy. However, the final diagnoses were bilateral ovotestis in two patients and ovary/ovotestis in one patient.For therapeutic laparoscopy, surgical procedures were: gonadectomy in 17 patients (bilateral in 13, unilateral in three, partial in two); hysterectomy in two patients; orchiopexy in one; and sigmoid vaginoplasty in one patient (included multiple procedures). There were no severe perioperative complications. In the four patients with a history of diagnostic laparoscopy, no severe intra-abdominal adhesions that would disturb therapeutic laparoscopic surgery were observed.ConclusionWhile diagnostic laparoscopy was helpful in devising a therapeutic surgical strategy in most of the patients with DSD who were suspected as having complex gonadal status or Müllerian duct derivatives, attention must be paid to precisely diagnosing the gonadal status in ovotesticular DSD. On the other hand, therapeutic laparoscopic surgeries were valuable procedures in treating DSD patients, even with a history of previous diagnostic laparoscopy.     

Recent advances in prenatal diagnosis and treatment

This article is a summary of the prenatal and perinatal management of a variety of congenital lesions as practiced by the fetal treatment program at the University of California in San Francisco. Emphasis is placed on those lesions that are amenable to fetal intervention.     

川崎病休克综合征早期识别与诊治研究进展

川崎病(KD)是儿童常见的急性血管炎,而川崎病休克综合征(KDSS)是KD少见而又严重的表现形式,近年来逐渐引起临床医师的关注,因其可出现在疾病早期,病情进展迅速,并伴有多系统器官受累,早期诊断困难,极易漏诊和误诊.本文综述了近年来KDSS诊断、早期识别、发病机制及治疗和预后等的研究进展.     

儿童结核病的诊治进展

结核病是一种严重危害人类健康的慢性传染性疾病,临床表现不典型,尚缺乏灵敏度较高的有效检查手段,临床诊断难度较大。由于多重耐药性结核菌株（MDR-TB）的产生及儿童用药的局限性,以致儿童结核病的治疗愈加困难。该文就儿童结核杆菌感染的流行病学史、临床表现、结核菌素皮肤试验、影像学检查、实验室检查等与结核病诊断有关的研究进展以及治疗措施在近些年的发展做一综述。     

Recent advances in the diagnosis and treatment of precocious puberty

In the last two decades, the diagnosis and treatment of precocious puberty has undergone important changes. The use of supersensitive assays to determine gonadotropins and gonadal hormones has increased the sensitivity and decreased the number of blood samples required to assess the diagnosis. The introduction of gonadotropin-releasing hormone (GnRH) agonists produced a revolution in the diagnosis and treatment of this disorder. Recently, the use of long acting GnRH agonists improved the adherence of patients to medical treatment and decreased the need for uncomfortable repeated doses. The medications in the treatment of the GnRH independent causes of precocious puberty, and the important revelations in the pathophysiology of these disorders, have advanced our knowledge and management of the affected children.     

Recent progress in the treatment of infant acute lymphoblastic leukemia

Treatment of infants with acute lymphoblastic leukemia (ALL), especially those with mixed lineage leukemia (MLL) rearrangement (MLL‐r), which account for approximately 80% of cases, is still a major challenge for pediatric hematologists and oncologists worldwide. Continuing efforts by collaborative clinical study groups in Europe, North America, and Japan have rescued approximately half of the MLL‐r ALL patients with intensive chemotherapy with or without allogeneic hematopoietic stem cell transplantation. Recent progress has clarified the unique mechanism of MLL‐r ALL: the aberrant methylation and histone modifications via DOT1L and other related molecules by MLL fusion proteins lead to leukemogenetic gene expression, thus to overt leukemia. In order to overcome this dismal subtype of ALL, novel targeted therapy based on leukemia biology is urgently needed. Due to the extreme rarity of the disease, collaboration between the study groups in Europe (Interfant), North America (Children's Oncology Group), and Japan (Japanese Pediatric Leukemia/Lymphoma Study Group) is under way.     

儿童慢性肉芽肿病的诊治进展

慢性肉芽肿病是一种因NADPH氧化酶功能障碍引起的原发性免疫缺陷病,在临床较为少见,病死率较高.典型的临床表现为儿童早期反复致命感染.慢性炎症持续存在导致局部形成肉芽肿,易引起局部梗阻.针对慢性肉芽肿病较特异的诊断方法包括:四氮唑蓝还原试验、二氢罗丹明流式细胞分析方法和基因序列分析等.目前造血干细胞移植是大多数慢性肉芽肿病治疗手段,但应选择合适的移植时机,以提高移植成功率并减少并发症.基因治疗慢性肉芽肿病长期的有效性和安全性还有待进一步深入研究.该文就近年来慢性肉芽肿病的发病机制、早期诊断技术和治疗等方面的研究进展作一综述.     

Achondroplasia: Recent advances in diagnosis and treatment

Achondroplasia (ACH) is the most common form of chondrodysplasia in humans. This disorder is inherited as an autosomal dominant trait, though most cases are sporadic. Recent advances in molecular biology have revealed its genetic defect in fibroblast growth factor-3 gene. This may introduce a new diagnostic tool and the classification of ACH and related disorders. Recent molecular engineering techniques have made it possible to provide large amounts of the various kinds of biofactors, such as erythropoietin, granulocyte colony stimulating factor and human growth hormone (GH), for clinical use. In fact, GH has been widely used to treat non-GH-deficient forms of short stature, such as Turner's syndrome, skeletal dysplasia, intrauterine growth retardation, chronic illness and idiopathic short stature, with beneficial effects. This may also be introduced into the medical management of ACH.     

综合征型脑积水的研究进展

脑积水可分为综合征型脑积水和非综合征型脑积水,综合征型脑积水定义为伴发至少一处颅外严重先天性畸形的先天性脑积水,多与基因突变有关,目前所知的人类综合征型脑积水相关的致病基因达100多个.根据疾病类型,可将基因突变所致的综合征型脑积水分为八大类.本文通过总结最新文献,对各类综合征型脑积水的特点、相关突变基因及诊治研究进展...     

先天性心脏病的临床及诊治进展

先天性心脏病是由遗传和环境因素及其相互作用所致的心血管畸形,其形态及血流动力学极其复杂和多样化。随着诊断方法和技术水平不断增加与提高,诊断复杂先天性心脏病的准确程度也越来越高。内科经导管介入治疗已经成为常规治疗一些先天性心脏病的有效方法。外科手术技术的改善使手术难度和手术成功率都有明显的提高,以往得不到治疗的复杂先心病患儿症状得到改善,生活质量提高甚至痊愈康复。     

IgA肾病诊断及治疗进展

IgA肾病 (IgAnephropathy ,IgAN)是世界各地目前最常见的原发性肾小球疾病。以往认为本病是一个良性疾病 ,预后较好。随着近年研究的不断深入 ,一些大样本的长期随访观察 ,发现本病的临床过程并不乐观 ,成人患者有2 0 %～ 5 0 %发展为终末期肾病 (ESRD)。儿童患者预后较成人好 ,但起病 5年、10年、15年分别有 5 %、6 %及 11%的患儿产生慢性肾功能衰竭。因此 ,本病的早期诊断和恰当治疗有重要意义[1] 。1　诊断IgAN多见于年长儿 ,临床表现多样化 ,最多见为发作性肉眼血尿和镜下血尿 ,10 %～ 2 0 %为肾病综合征 ,少数表现为肾炎综合征、…     

过敏性鼻炎的诊断与治疗新进展

介绍过敏性鼻炎（AR）的诊治新进展。遗传和环境因素被认为是AR的病因学因素,AR与哮喘常相伴发生。1999年世界卫生组织出台的“过敏性鼻炎及其对哮喘的影响”指南（ARIA）及过敏症报告,提供了规范的诊断方法及治疗指南,强调了AR对哮喘的影响,并对AR进行了新的分类。最常用的诊断试验包括皮肤试验及检测特异性血清lgE抗体（放射性过敏原吸附试验）。而标准化的鼻部激发试验（nasal provocation testing,NPT）在鉴别AR与非AR应用中,是一个十分有效且安全的方法。AR的治疗一般包括避免接触变庙原、药物治疔、侍疫疗法及手术疗法等。     

小儿血液病诊断治疗进展

对白血病诊断和治疗的研究仍是 2 0 0 0年我国儿科血液病工作者关注的重点。随着联合化疗的应用 ,小儿急性白血病的疗效已有极大提高 ,但仍有部分患儿未能达到完全缓解或缓解后易复发。多年的研究发现 ,白血病细胞多药耐药 (ＭＤＲ)是白血病治疗失败的原因之一 ,ＭＤＲ的产生主要与细胞中Ｐ 糖蛋白 (Ｐ ＧＰ)的过度表达有关 ,Ｐ ＧＰ为一能量依赖性药泵 ,可将多种结构和作用机制不同的药物排出细胞外 ,因而产生ＭＤＲ ,因此逆转ＭＤＲ的研究已成为肿瘤治疗的热点和难点。实验和临床已证明某些药物 ,如环孢菌素Ａ等可逆转ＭＤＲ ,但这些药物…