幼年特发性关节炎全身型并发巨噬细胞活化综合征13例临床分析

目的对13例幼年特发性关节炎全身型（SOJIA）合并巨噬细胞活化综合征（MAS）患儿临床资料进行回顾性分析,以期提高临床认识。方法回顾性分析13例SOJIA合并MAS患儿可能触发因素、临床表现、实验室检查结果以及治疗和预后。结果90例SOJIA患儿并发MAS13例（14．4％）,男10例,女3例。全部患儿处于SOJIA活动状态;3例可能为药物触发;8例MAS发生前存在感染。全部患儿均持续高热;肝大12例（92．3％）;凝血功能障碍10例（76．9％）;神经精神系统功能障碍8例（61．5％）。MAS发生时全部患儿白细胞（WBC）、血小板（PLT）和红细胞沉降率（ESR）较发生前显著下降;5例（62．5％）血清铁蛋白（SF）≥10000μg／L;8例（72．7％）血纤维蛋白原（Fib）≤2．5g／L;9例（69．2％）甘油三酯（TG）≥2．5mmol／L。结论MAS是SOJIA严重而致命的并发症,原发SOJIA活动性、药物以及感染是MAS的重要触发因素。肝脏显著增大、出血倾向和神经精神系统功能障碍是MAS最具鉴别意义的临床指标。血WBC、PIJT和ESR较基础值急剧下降、SF急剧升高、Fib减少以及TG升高是MAS重要的临床实验室指标。早期有力的干预治疗决定MAS的预后。     

Acute liver failure in young children with systemic-onset juvenile idiopathic arthritis without macrophage activation syndrome: report of two cases

Acute liver failure (ALF) with macrophage activation syndrome (MAS) is well known as a complication of systemic-onset juvenile idiopathic arthritis (S-JIA). However, liver failure without overt MAS is rare in S-JIA. We encountered two Japanese children with S-JIA in whom ALF developed during the remission of clinical manifestations. ALF without MAS was improved with plasma exchange and cyclosporine A combined with pulse methylprednisolone.     

Duration of illness is an important variable for untreated children with juvenile dermatomyositis

OBJECTIVE: To evaluate the impact of duration of untreated symptoms in children with juvenile dermatomyositis (JDM) on clinical and laboratory status at diagnosis. STUDY DESIGN: We examined physical and laboratory data from the first physician visit for 166 untreated children with JDM. Disease activity scores (DASs) assessed skin and muscle involvement. Height and weight were compared with the National Health and Nutrition Examination Survey III dataset. Duration of untreated illness was designated as the time from first sign of rash or weakness to diagnostic visit. RESULTS: Boys and girls with untreated JDM were shorter and lighter than national norms (P > .0005 for both), and nonwhite children were weaker than white children (P > .0005). Older children had more dysphagia (P = .017) and arthritis (P > .001). Duration of untreated JDM was negatively associated with DAS weakness (P > .0005), unrelated to DAS skin, and positively associated with pathological calcifications (P = .006). With untreated disease > or = 4.7 months, serum levels of 4 muscle enzymes (aldolase, lactic dehydrogenase, creatine kinase, serum glutamic-oxaloacetic transaminase/aspartate aminotransferase) tended toward normal (P > .01 for each). CONCLUSIONS: Duration of untreated symptoms is an important variable and should be included in decisions concerning both diagnostic criteria and intensity of therapy for children with JDM.     

巨噬细胞活化综合征的临床和实验室特征分析

目的分析巨噬细胞活化综合征(MAS)患儿诊断初期的临床和实验室特征,探索早期识别MAS的方法。方法回顾性分析21例MAS患儿的临床、实验室特征,以及治疗和转归。结果 MAS患儿的原发病包括全身型幼年特发性关节炎(SJIA)14例、川崎病(KD)5例和结缔组织病(CTD)2例。发生MAS的中位时间为19 d,以KD-MAS发生最快,CTD-MAS发生最晚(P=0.009)。前10位的临床症状依次为发热(95%),皮疹(86%),淋巴结肿大(67%),骨髓吞噬现象(63%),肺部病变(62%),浆膜腔积液(62%),肝肿大(52%),脑脊液异常(50%),中枢神经系统损害(43%)和脾肿大(38%)。实验室特征方面,血红蛋白降低;超敏C反应蛋白、血沉升高、血清铁蛋白明显升高;谷丙转氨酶、谷草转氨酶、乳酸脱氢酶和甘油三酯升高;纤维蛋白原降低,D-二聚体明显升高;IL-6、IL-10和IFN-γ明显升高。21例患儿中20例好转出院。结论风湿性疾病患儿如出现持续发热,肝功能损害,凝血功能异常,甚至多脏器损害,以及IL-10、IFN-γ明显升高和血清铁蛋白持续升高,要高度警惕MAS发生。     

Chronic lymphadenopathy due to mycobacterial infection. Clinical features, diagnosis, histopathology, and management

This report provides clinical information, diagnostic criteria, management, and outcome of 153 cases of mycobacterial lymphadenitis; 22 patients (14%) had Mycobacterium tuberculosis (TB) and 131 patients (86%) had nontuberculous mycobacterial (NTM) disease. Correct diagnosis of TB v NTM disease is essential, since antituberculous chemotherapy was effective for TB adenitis, while excisional biopsy was the treatment of choice for NTM adenopathy. Dual (PPD-NTM, PPD-T) Mantoux tests discriminated between TB and NTM adenitis in 151 (99%) of 153 patients, while dual (PPD-Battey [B], PPD-T) tests differentiated between NTM and TB adenitis in 135 (88%) of 153 cases. A PPD-T reaction of 1 to 14 mm suggested either an NTM or TB infection, whereas a PPD-T of 15 mm or greater was strongly associated with TB disease. We recommend the use of PPD-B and PPD-T antigens as reliable diagnostic discriminators between TB and NTM adenitis.     

Improving guideline adherence for the diagnosis of ADHD in an ambulatory pediatric setting.

BACKGROUND: The American Academy of Pediatrics (AAP) has published clinical practice guidelines for the diagnosis of Attention Deficit Hyperactivity Disorder (ADHD). However, implementation of guidelines has been notoriously difficult to achieve in the wider context of changing individual physicians' clinical practice. OBJECTIVE: Implement a formalized diagnostic protocol for ADHD and study whether this protocol improved adherence of pediatric residents and faculty to published guidelines for the diagnosis of ADHD. METHODS: Quasi-experimental retrospective record review of 63 pediatric patients evaluated for ADHD by pediatric residents and faculty in an outpatient pediatric clinic before (n = 25) and after (n = 38) implementation of a formal diagnostic process for ADHD. The key elements of the new diagnostic process include completion of a semistructured interview and mandatory rating scales for home and school. The published AAP guidelines include 1) documentation of Diagnostic and Statistical Manual for Mental Disorders (DSM) IV criteria; 2) evidence of core symptoms obtained directly from home and 3) from school; and 4) assessment for coexisting conditions. Adherence was assessed to each criterion individually (yes/no) and was summarized in a single score. RESULTS: Only 4% of clinicians and nurse practitioners diagnosing children in the before group adhered to all 4 AAP guidelines, compared to 82% in the after group (P < .001). Significant improvement was observed across each of the 4 criteria in the AAP guidelines. Moreover, the improvement in adherence to all 4 guidelines was noted for residents and faculty. CONCLUSION: A significant improvement in adherence to AAP guidelines was obtained for all providers through implementation of a structured diagnostic approach to ADHD.     

全身型幼年特发性关节炎合并巨噬细胞活化综合征诊断和治疗

巨噬细胞活化综合征(MAS)是继发于风湿免疫性疾病基础上的噬血细胞性淋巴组织细胞增多症(HLH),也是儿科急性危重症,其中,以全身型幼年特发性关节炎(sJIA)相关MAS(sJIA-MAS)最为常见,且具有较高的病死率,早期诊断、及时治疗是改善预后的关键。虽然sJIAMAS和HLH具有相似的临床和实验室特征,但由于二者的基础疾病不同,因此诊断标准也有所差异。糖皮质激素和环孢素A是MAS的一线治疗药物,但仍存在较大挑战,生物制剂靶向药物逐步被提出作为难治性MAS的治疗选择,甚至作为MAS的一线药物。该文重点阐述sJIA-MAS的临床和实验室特征、生物标志物、分类标准及治疗进展。     

Damage index in childhood-onset systemic lupus erythematosus in Egypt

Background

To investigate the prevalence of cumulative organ damage among Egyptian children with juvenile-onset systemic lupus erythematosus (jSLE) and the relationships between the organ damage and the demographic data, clinical variables, and disease activity.

Methods

A total of 148 patients with jSLE have been followed in the pediatric rheumatology clinic and section at Cairo University. These patients were evaluated by retrospective chart review. The organ system damage due to SLE was measured using the Systemic Lupus International Collaborating Clinics/American College of Rheumatology Damage Index (SDI). Risk factors for damage were also studied including demographic criteria as well as clinical and laboratory manifestations.

Results

Overall, 43.9% of the patients had damage within a mean of 6.57 ± 3.59 years of disease diagnosis. Neuropsychiatric (NPS-21%) and renal (16.9%) system involvement were observed most frequently, followed by cardiovascular (11.5%), skin (9.5%), pulmonary (6.1%), and ocular (4.8%), with a mean SDI score of 0.93 ± 1.37. In our study, the presence of neuropsychiatric manifestations at diagnosis showed the strongest association with the presence of later disease damage.The number of SLE diagnostic criteria at presentation was strongly associated with the total SDI score, and the renal damage was significantly more prevalent in patients with age at disease diagnosis below 10 years of age. A higher mean disease duration was found in patients with musculoskeletal damage.

Conclusion

We found that cumulative organ damage, as measured by the SDI, was present in 43.9% of Egyptian patients with juvenile-onset SLE. The damage was significantly more likely in patients who had more SLE diagnostic criteria at time of disease presentation and NPS manifestations at the time of diagnosis.

     

Diagnosis, treatment and outcome of Kawasaki disease in an Australian tertiary setting: a review of three years experience

OBJECTIVE: To examine the patient characteristics, diagnostic criteria, treatment, complications and outcomes of Kawasaki disease (KD) in children diagnosed and treated in an Australian tertiary hospital setting and compare this to previously reported experience. METHODS: Data were collected prospectively for 14 patients in 2002 and retrospectively for 31 patients in 2000 and 2001. Demographics, clinical features, laboratory features, treatment and outcome details were collected, analysed and compared to previous experience. RESULTS: The median age at diagnosis was 2.77 years (0.28-8.84) and diagnosis was made after a mean 6.1 days of fever. Twenty-eight patients (62.2%) had classical KD and those with less than four criteria were younger than those with four or more criteria (P = 0.04). Patients were treated with intravenous immunoglobulin and aspirin. Twelve (26.7%) required re-treatment. Re-treatment was associated with treatment within 5 days of fever onset (P = 0.03). Twelve patients (27.3%) developed coronary artery abnormalities and the development of such abnormalities was associated with lower serum albumin at diagnosis (P = 0.008) and need for re-treatment (P = 0.03). There was no difference in coronary outcome between classical and incomplete presentations. Only two patients had coronary lesions at 12 months follow-up. CONCLUSIONS: We found a trend towards earlier diagnosis and treatment of KD in the tertiary hospital setting, which may reflect heightened physician awareness of the disease. Our study confirms that children who present with incomplete disease are at risk of coronary artery abnormality. We recommend that clinicians continue to maintain high levels of suspicion, even in the absence of the complete clinical picture of KD, particularly in infants below 1 year of age.     

川崎病并发巨噬细胞活化综合征9例病例报告并文献复习

目的探讨川崎病（KD）并发巨噬细胞活化综合征（MAS）临床特点及相关基因和蛋白表达的生物学意义。方法回顾性分析2008年8月至2017年6月重庆医科大学附属儿童医院（我院）收治的KD并发MAS连续病例,系统检索中英文数据库KD并发MAS文献,以出院结局指标分为预后不良组（死亡或放弃治疗）和好转组,提取临床资料及实验室检查结果,探讨KD并发MAS的临床特点。结果我院9例中,均有肝、脾肿大和IVIG无反应,皮疹,趾、指端硬肿或脱屑,冠脉病变各8例,唇红皲裂7例,淋巴结肿大6例,球结膜充血和不完全KD各4例。CRP均升高,纤维蛋白原（Fib）＜1.5 g·L-1和铁蛋白＞1 500 ng·mL-1各8例;ALT升高7例,AST升高和骨髓噬血现象阳性率各6例,甘油三酯（TG）＞3.0 mmol·L-1 4例。2例行HLH相关基因及蛋白表达检测,未发现HLH相关基因（24种）突变,均有NK细胞的穿孔素蛋白表达水平降低,1例同时存在NK细胞颗粒酶B表达以及CTL细胞穿孔素表达降低。复习文献,共报告27例（包括本文9例）KD并发MAS,好转18例,预后不良9例,预后不良组仅不完全KD发生率明显高于好转组（55.6% vs 5.9%,P=0.004）。结论KD患儿出现首剂IVIG治疗无反应且伴肝脾肿大、AST和/或ALT、铁蛋白明显升高时,需警惕KD并发MAS可能。未提示KD并发MAS具有遗传倾向,NK细胞中穿孔素表达水平的降低可能与KD患儿并发MAS相关。不完全KD可能是影响KD并发MAS患儿预后的危险因素之一。     

全身型幼年特发性关节炎患儿合并巨噬细胞活化综合征早期预警量表建立的研究

目的　总结全身型幼年特发性关节炎（sJIA）合并巨噬细胞活化综合征（MAS）的早期临床特征、实验室及辅助检查特点，筛选对诊断MAS有预警作用的检测指标，并量化形成量表，以达到快速对疾病“早识别，早治疗，降低病死率”的目的。方法　回顾性分析2006年1月至2016年1月，北京儿童医院风湿免疫科收治sJIA合并MAS患儿的病例资料，在临床及辅助检查观测指标中筛选出对早期诊断MAS有评估意义的候选指标；通过ROC曲线的方法选择最佳的诊断界限值（Cut-off值）；采用多因素Logistic回归分析MAS独立危险因素，效果以优势比（OR）表示，计算95％置信区间；经过同行评议对上述因素进行权重分值量化并最终形成积分表。结果　390例sJIA患儿，其中141例合并MAS。临床表现全部患儿均有高热、肝脾和（或）淋巴结进行性增大、血液系统受累，中枢神经系统受累患儿19例。单因素Logistic回归及ROC曲线分析结果显示，MAS组和重症sJIA组比较，10个变量存在显著差异（P<0.05）。Logistic回归分析结果显示，Fib ≤3.11g/L、WBC≤11.0×109/L、SF/ESR≥99.4及PLT≤260×109/L为MAS的独立危险因素。绘制模型ROC曲线，灵敏度和特异度分别为92.42%、81.20%。经过30位同行专家评议并投票，分别对上述患儿进行MAS诊断，并对各项临床表现及检验检查项目进行权重值评分，形成早期预警量表。结论　临床表现结合辅助检查结果，利用积分量表的形式，快速判断重症sJIA是否合并早期MAS，对诊断窗口提前，提高MAS诊断率，降低漏诊及前瞻性研究提供参考。     

Value of degenerative change in neutrophils as a diagnostic test for Kawasaki syndrome

STUDY OBJECTIVE: To determine whether the presence of vacuoles and toxic granulation in neutrophils can be used as a diagnostic test to help differentiate children with Kawasaki syndrome from those with clinically similar illnesses. DESIGN: Peripheral blood smears of 23 patients with Kawasaki syndrome, 23 disease control patients, and 23 hematology laboratory control subjects were examined in random order by technicians unaware of either the diagnosis or the previously recorded laboratory results. SETTING: Tertiary care children's hospital in Ottawa, Canada. PATIENTS: All 23 consecutive patients with Kawasaki syndrome satisfied established criteria for the diagnosis. Disease control patients were selected from the hospital registry of patients with other illnesses frequently considered as part of the differential diagnosis for Kawasaki syndrome. MEASUREMENTS AND MAIN RESULTS: Compared with disease control patients, patients with Kawasaki syndrome had a higher percentage of neutrophils with vacuoles (mean +/- SEM, 31% +/- 5% vs 14% +/- 3%; p = 0.006) and toxic granulation (mean +/- SEM, 43% +/- 7% vs 14% +/- 4%; p less than 0.001). If the sum of the number of neutrophils with vacuoles and the number with toxic granulation (per 100 mature neutrophils examined) was at least 70, this "toxic neutrophil" test had a specificity of 0.96 and a likelihood ratio of a positive test result of 12. CONCLUSIONS: Degenerative change in neutrophils is common in the early stages of Kawasaki syndrome. The toxic neutrophil test is potentially a helpful adjunct to the clinical examination, particularly in the case of infants and other patients with subtle manifestations who might otherwise be at risk for delayed diagnosis.     

Reflex sympathetic dystrophy: complex regional pain syndrome type I in children with mitochondrial disease and maternal inheritance.

OBJECTIVE: Complex regional pain syndrome type I (CRPS-I), previously known as reflex sympathetic dystrophy (RSD), is an idiopathic condition characterised by localised, abnormally intense and prolonged pain, allodynia and autonomic nervous system changes (ie, swelling, skin colour and temperature changes and altered perspiration) that usually appear following a "noxious" trigger such as trauma or surgery. The objective of this report is to demonstrate that children with CRPS-I can have additional dysautonomic conditions secondary to an underlying maternally inherited mitochondrial disease, an association not previously published. METHODS: Medical records of about 500 patients seen by one paediatric metabolic geneticist were reviewed to identify children meeting established CRPS diagnostic criteria. RESULTS: CRPS-I was present in eight children in seven families, each of which also had additional functional/dysautonomic conditions, the most common (> or = 4 cases per condition) being gastrointestinal dysmotility, migraine, cyclic vomiting and chronic fatigue. All seven probands studied met Nijmegen (2002) diagnostic criteria for definite mitochondrial disease on the basis of the clinical signs and symptoms and biochemical analyses. Six of the seven families met our pedigree-based criteria for probable maternal inheritance. CONCLUSION: In one tertiary-care paediatric genetics practice, children meeting the CRPS-I diagnostic criteria frequently had additional autonomic-related conditions secondary to maternally inherited mitochondrial disease, suggesting that mitochondrial DNA sequence variants can predispose children towards the development of CRPS-I and other dysautonomias. CRPS-I should be considered in patients with mitochondrial disease who complain of idiopathic pain. Maternally inherited mitochondrial disease may not be a rare cause of CRPS-I, especially in children who present with other manifestations of dysautonomia.     

幼年型皮肌炎常见肌炎抗体与临床表型的关联分析

背景 目前成人和儿童皮肌炎的肌炎抗体谱与临床表型谱的分析受单纯与复合抗体、是否已治疗等混杂因素影响。目的 探讨幼年型皮肌炎(JDM)肌炎特异性抗体(MSA)与临床表型的相关性。设计 病例系列报告。方法 JDM诊断参照Bohan/Peter标准或2017年EULAR/ACR标准。纳入复旦大学附属儿科医院(我院)风湿科2011年开始建立的JDM随访系统中2017年3月至2020年4月行欧蒙免疫印迹法检测16种肌炎抗体的连续病例。从我院HIS系统中和风湿科JDM随访系统中采集来我院就诊时的临床数据:发病年龄,诊断时病程,随访病程,体温,皮肤、骨和关节、肺、肝、肾表现,实验室检查,MAS,重叠SLE,儿童肌力(CMAS)评分。主要结局指标 单纯和复合抗-MDA5抗体患儿临床表型特点。结果 符合本文纳入标准的103例JDM进入分析,男54例(52.4%),诊断JDM后未经治疗前行特异性抗体谱检测60例。初诊时CMAS评分中位数为33(23.0,44.7)。主要临床表现:发热、皮肤溃疡、皮肤钙化、关节痛或关节炎、间质性肺炎、合并重症肺炎、吞咽困难、血尿和IgA肾病、合并巨噬细胞活化综合征。103例JDM患儿中,肌炎抗体阳性68例(66.0%),其中MSA阳性64例,肌炎相关性抗体(MAA)阳性24例,MSA+MAA阳性20例。抗-MDA5抗体组、抗-NXP2抗体组、抗-TIF-1γ抗体组及抗体全阴性组4组间发病年龄和初诊时病程比较差异有统计学意义。抗-TIF-1γ抗体组发病年龄更小,初诊时病程更长。抗-MDA5抗体组更易发生皮肤溃疡、关节炎/关节痛,更多合并间质性肺炎和发热。4组间CMAS评分、ALT、AST、LDH、α-羟丁酸脱氢酶(HBDH)、CK、Fer差异有统计学意义,抗-NXP2抗体组CMAS评分最低,CK、LDH和HBDH最高,抗-MDA5抗体组ALT、AST最高、CK最低,Fer最高;抗-TIF-1γ抗体组ALT、AST、LDH、Fer最低;抗体全阴性组ALT、AST、CK、LDH、HBDH未显示有意义的特点。初治单纯抗-MDA5组(n=9)HBDH、Fer基本正常,初治复合抗-MDA5组(n=10)HBDH、Fer显著增高。结论 抗-MDA5、抗-NXP2和抗-TIF-1γ抗体阳性JDM患儿呈现了足以鉴别的临床表型和实验室检查结果,未治疗情况下单纯与复合抗-MDA5抗体阳性JDM患儿HBDH和Fer有明显的鉴别意义,抗体全阴性患儿临床表型和实验室结果无明显特征。     

现有儿科心力衰竭诊断标准及脑利钠肽对先天性心脏病合并心力衰竭的诊断价值

目的 拟评估现有儿科心力衰竭（简称心衰）诊断标准及血浆脑利钠肽（BNP）、无生物活性的氨基末端BNP（NT—proBNP）对先天性心脏病（简称先心病）合并心衰的诊断价值,并通过多因素分析探讨最有价值的诊断指标。方法以先心病患儿118例为研究对象,分别应用改良Ross标准、青岛标准、NYUPHFI、Ross标准以及血浆BNP、NT—proBNP对上述病例进行诊断。以改良Ross评分≥3分作为参考标准,评估各标准及血浆BNP、NT—proBNP的诊断价值。应用logistic回归方法分析各因素对心衰的诊断价值。结果 （1）各临床标准诊断心衰的价值：①青岛标准诊断的敏感度为47．9％,特异度为100％,准确率为57、6％。②Ross评分诊断心衰的ROC曲线下面积为0．985,敏感度为88％,特异度为100％。③NYuPHFI评分＞2分作为诊断界点时敏感度高而特异度较低,敏感度为100％,特异度为4．5％。（2）血浆BNP及NT—proBNP与改良Ross呈正相关,随着心功能分级严重程度的增加而增加,BNP诊断心衰的ROC曲线下面积为0．880,按照ROC曲线选取的诊断界值为≥349pg／ml。NT—proBNP诊断心衰的ROC曲线下面积为0.981,按照ROC曲线选取的诊断界值为≥499fmol／ml。（3）多因素分析提示,NT—proBNP、呼吸急促、心率增快、呼吸增快、生长发育落后对于心衰的诊断有价值。（4）血浆NT—proBNP与临床标准并联或串联可提高准确率。结论 现有临床标准对于先心病合并心衰均具有诊断价值,但青岛标准敏感度低,Ross标准适用范围窄,NYU PHFI＞2分特异度低,存在一定的局限性。血浆BNP及NT—proBNP对于小儿先心病导致的心衰具有诊断价值,NT—proBNP是心衰诊断的独立预测因素。     

The diagnostic work up of growth failure in secondary health care; An evaluation of consensus guidelines

Background

As abnormal growth might be the first manifestation of undetected diseases, it is important to have accurate referral criteria and a proper diagnostic work-up. In the present paper we evaluate the diagnostic work-up in secondary health care according to existing consensus guidelines and study the frequency of underlying medical disorders.

Methods

Data on growth and additional diagnostic procedures were collected from medical records of new patients referred for short stature to the outpatient clinics of the general paediatric departments of two hospitals (Erasmus MC – Sophia Children's Hospital, Rotterdam and Spaarne Hospital, Haarlem) between January 1998 and December 2002. As the Dutch Consensus Guideline (DCG) is the only guideline addressing referral criteria as well as diagnostic work-up, the analyses were based on its seven auxological referral criteria to determine the characteristics of children who are incorrectly referred and the adequacy of workup of those who are referred.

Results

Twenty four percent of children older than 3 years were inappropriately referred (NCR). Of the correctly referred children 74–88% were short corrected for parental height, 40–61% had a height SDS <-2.5 and 21% showed height deflection (Δ HSDS < -0.25/yr or Δ HSDS < -1). In none of the children a complete detailed routine diagnostic work up was performed and in more than 30% no routine laboratory examination was done at all. Pathologic causes of short stature were found in 27 children (5%).

Conclusion

Existing guidelines for workup of children with suspected growth failure are poorly implemented. Although poorly implemented the DCG detects at least 5% pathologic causes of growth failure in children referred for short stature. New guidelines for referral are required with a better sensitivity and specificity, wherein distance to target height should get more attention. The general diagnostic work up for short stature should include testing for celiac disease in all children and for Turner syndrome in girls.     

早产儿缺氧缺血性脑损伤的诊断与分度探讨

目的：随着围产医学的进步,足月儿缺氧缺血性脑损伤（HIBD）已显著减少,而早产儿HIBD成为临床关注的重点。但临床医生对早产儿HIBD诊断与治疗尚存在困惑与混乱,该文旨在探讨早产儿HIBD的诊断与分度标准,为规范早产儿HIBD的诊断与治疗提供临床参考。方法：对该院2001年4月至2005年10月间按足月儿缺氧缺血性脑病标准诊断为HIBD的453例早产儿的病史、临床表现、实验室检查和影像学检查结果等进行回顾性分析,结合早产儿脑损伤的病理特点,提出早产儿HIBD诊断和分度参考标准。结果按足月儿缺氧缺血性脑病标准诊断为HIBD的453例早产儿中,符合本研究制定的早产儿HIBD诊断标准者346例,占76%。其中208例动脉血PaO2或/和SaO2降低,分别为42.21±8.33 mmHg和（68.49±5.19）%;138例BE值显著降低,为（-10.86±3.41）mmol/L。所有患儿均有一定的临床表现和影像学改变。诊断早产儿HIBD头颅CT的敏感度为100%,特异度为17.8%;头颅超声的敏感度为87.9%,特异度为100%。结论 用足月儿缺氧缺血性脑病标准诊断早产儿HIBD,会导致诊断扩大化,本组为24%。根据研究结果,提出早产儿HIBD的诊断参考标准为：①有缺氧的证据;②相关的临床表现;③影像学检查存在脑损伤的改变;④除外感染、电解质紊乱及先天性代谢缺陷等疾病引起的脑损伤。并建议结合头颅超声检查,临床上分为轻度和重度脑损伤。［中国当代儿科杂志,2007,9（4）：293-296］     

Testicular microlithiasis: an unreported feature of McCune-Albright syndrome in males

OBJECTIVE: To ascertain the incidence of testicular microlithiasis (TM) in boys with McCune-Albright syndrome (MAS). STUDY DESIGN: Study population consisted of 8 boys with MAS whose medical records were reviewed with emphasis on their past genitourinary histories. All of the boys underwent a clinical and ultrasonographic (US) scanning of the scrotal and inguinal regions. US results in boys with MAS were compared with those obtained in two control populations consisting of 20 healthy subjects and 12 boys with idiopathic and untreated central precocious puberty (CPP). RESULTS: Clinical examination revealed urological abnormalities in no patients, whereas US showed a typical picture of TM in 5 of 8 boys. TM was observed in none of the subjects belonging to control populations (v=15.2 and 11.3, respectively; P <.001). CONCLUSIONS: In a series of 8 boys with MAS we demonstrated a high prevalence (62%) of TM that was associated with neither malignant nor nonmalignant conditions. This finding is unlikely to be only occasional, considering the very low prevalence of TM reported until now in healthy children and young adults and in our results in control populations. TM may be another marker for MAS.     

Value of amino‐terminal pro B‐natriuretic peptide in diagnosing Kawasaki disease

Background: The aim of the present study was to investigate the diagnostic value of the N‐terminal B‐type natriuretic peptide (NT‐proBNP) in acute Kawasaki disease (KD) given that the clinical criteria and the current basic laboratory tests lack the necessary specificity for accurate diagnosis. Methods: Basic biological tests and serum NT‐proBNP levels obtained from acute KD patients were compared to that of febrile controls. NT‐proBNP was considered abnormal based on the following definitions: above a cut‐off determined on receiver operator characteristic (ROC) analysis, above the upper limit for age, or above 2 SD calculated from healthy children. Analyses were also performed for KD cases with complete or incomplete criteria combined and separately. Results: There were 81 patients and 49 controls aged 3.60 ± 2.77 versus 4.25 ± 3.88 years (P= 0.69). ROC analysis yielded significant area under the curve for NT‐proBNP. The sensitivity, specificity, positive and negative predictive values were 70.4–88.9%, 69.4–91.8%, 82.8–93.4%, and 65.2–79.1%. The odds ratios based on NT‐proBNP definitions varied between 18.13 (95% confidence interval [CI]: 7.21–45.57), 20.82 (95%CI: 8.18–53.0), and 26.71 (95%CI: 8.64–82.57; P < 0.001). Results were reproducible for cases with complete or incomplete criteria separately. Conclusion: NT‐proBNP is a reliable marker for the diagnosis of KD. Prospective clinical studies with emphasis on NT‐proBNP in a diagnostic algorithm are needed.     

Management and outcome of persistent or recurrent fever after initial intravenous gamma globulin therapy in acute Kawasaki disease

OBJECTIVE: To determine differences in clinical characteristics, laboratory findings, and cardiac complications between patients with acute Kawasaki disease who received additional treatment for persistent or recurrent fever vs those who did not. DESIGN: Nonconcurrent case series; medical record review. SETTING: Tertiary care pediatric hospital. PATIENTS: One hundred eighty-five consecutive patients diagnosed as having acute Kawasaki disease at The Hospital for Sick Children, Toronto, Ontario, from 1995 to 1997. MAIN OUTCOME MEASURE: Prevalence of cardiac complications. RESULTS: Twenty-one patients (11%) received additional treatment with intravenous gamma globulin (IVGG) with or without intravenous methylprednisolone for persistent fever lasting for more than 48 hours or recurrent fever after initial treatment with IVGG. Patients who received additional treatment did not differ significantly from other patients regarding age, sex, race, or diagnostic criteria. Compared with the patients who did not receive additional therapy, the patients who received additional treatment had shorter median interval from fever onset to initial dose of IVGG (5 vs 6 days; P=.006) and longer total days of fever (9 vs 6 days; P<.001). Initial laboratory investigations did not differ significantly. On initial echocardiography, patients who received additional therapy were significantly more likely to have pericardial effusion (33% vs 15%; P=.04), ventricular dysfunction (14% vs 2%; P= .002), and coronary artery ectasia (76% vs 43%; P=.004) but not aneurysms (10% vs 5%; P= .47). At 12 months after diagnosis, there were no significant differences between the 2 groups regarding the prevalence of coronary artery ectasia or aneurysms. CONCLUSION: Patients receiving additional treatment for persistent or recurrent fever have similar demographic and clinical characteristics, greater initial cardiac involvement, and similar overall outcomes.