血液净化治疗非肾脏疾病危重症患儿的临床分析

目的 总结血液净化(blood purification,BP)治疗非肾脏疾病危重症患儿的经验.方法 回顾性分析2009年1月至12月在我院PICU因非肾脏疾病而行BP治疗的10例危重症患儿的临床资料.10例患儿中,5例为急性肝能衰竭;2例自身免疫性疾病,其中1例吉兰-巴雷综合征,1例幼年特发性关节炎(全身型)并发MAS;2例重症脓毒症;1例由于代谢病出现持续性的严重代谢性酸中毒.结果 10例非肾脏疾病危重患儿中,实施CVVH联合PE治疗4例次,单纯CVVH治疗3例,单纯PE治疗3例.临床痊愈7例,好转1例,家长放弃2例.结论 BP作为一种脏器功能替代及支持的新疗法对PICU中肝功能衰竭及自身免疫性疾病等非肾脏病危重症患儿有较好的疗效.     

Successful allogeneic hemopoietic stem cell transplantation in a child who had anhidrotic ectodermal dysplasia with immunodeficiency

Anhidrotic ectodermal dysplasia with immunodeficiency is associated with multiple infections and a poor clinical outcome. Hypomorphic mutations in nuclear factor kappaB essential modulator (NEMO)/IkappaB kinase complex and a hypermorphic mutation in inhibitor alpha of nuclear factor kappaB (IkappaBalpha) both result in impaired nuclear factor kappaB activation and are associated with X-recessive and autosomal-dominant forms of anhidrotic ectodermal dysplasia with immunodeficiency, respectively. Autosomal-dominant anhidrotic ectodermal dysplasia with immunodeficiency is also associated with a severe T-cell phenotype. It is not known whether hematopoietic stem cell transplantation can cure immune deficiency in children with anhidrotic ectodermal dysplasia with immunodeficiency. A boy with autosomal-dominant anhidrotic ectodermal dysplasia with immunodeficiency and a severe T-cell immunodeficiency underwent transplantation at 1 year of age with haploidentical T-cell-depleted bone marrow after myeloablative conditioning. Engraftment occurred, with full hematopoietic chimerism. Seven years after transplantation, clinical outcome is favorable, with normal T-cell development. As expected, the developmental features of the anhidrotic ectodermal dysplasia syndrome have appeared and persisted. This is the first report of successful hematopoietic stem cell transplantation in a child with anhidrotic ectodermal dysplasia with immunodeficiency. Hematopoietic stem cell transplantation is well tolerated and efficiently cures the profound immunodeficiency associated with autosomal-dominant anhidrotic ectodermal dysplasia with immunodeficiency.     

Comparison of human metapneumovirus and respiratory syncytial virus in children admitted to a paediatric intensive care unit

Aim: To describe the clinical presentation and course of children admitted to the paediatric intensive care unit (PICU) with human metapneumovirus (hMPV) infection, and compare them with children admitted to the PICU with respiratory syncytial virus (RSV) infection. Methods: hMPV was identified by immunofluorescence in 22 children admitted to the PICU over a 16‐month period. The medical records of these children were reviewed retrospectively, and their clinical and laboratory data were compared with 66 children admitted to the PICU with positive tests for RSV over the same period. Results: Children admitted to the PICU with hMPV were significantly older than children with RSV (P= 0.003). Children with hMPV presented more commonly with pneumonia or pneumonitis (29% vs. 16%), and less commonly with bronchiolitis (43% vs. 68%) than RSV (P= 0.13). Invasive ventilation was required in 10 patients (48%) with hMPV, and non‐invasive ventilation was required in a further 5 (28%), similar to patients with RSV. Children with hMPV were more likely to have an underlying co‐morbidity (P= 0.11). Conclusions: Children admitted to the PICU with hMPV have a similar disease presentation and severity as children admitted with RSV, including some with extremely severe disease who require additional ventilatory or cardiovascular support. Children with hMPV are likely to be older than those with RSV, and more likely to present with pneumonia and less likely to present with bronchiolitis.     

甲泼尼龙联合顺尔宁治疗重症毛细支气管炎的临床和诱导痰细胞学研究

目的 研究甲泼尼龙(MP)联合顺尔宁治疗重症毛细支气管炎(毛支)的疗效和治疗前后诱导痰细胞学的变化.方法 将64例重症毛细支气管炎患儿随机分为两组,治疗组32例联用MP和顺尔宁治疗,对照组32例用地塞米松治疗.分别观察两组的喘憋消失时间、肺部体征消失时间和住院天数.同时分析治疗组用MP和顺尔宁联合治疗前后的诱导痰细胞学变化.结果 与对照组相比,治疗组的喘憋消失时间、肺部体征消失时间和住院天数均明显缩短(P均＜0.01).经MP和顺尔宁联合治疗后,治疗组的嗜酸性粒细胞和肥大细胞的比例明显下降(P均＜0.001).结论 MP和顺尔宁联合治疗重症毛支的疗效优于常规治疗方法,同时对其诱导痰细胞学有显著影响.     

Unilateral mid-femoral periosteal newbone of varying aetiology in children

Thigh pain is a serious condition in childhood and should be promptly and thoroughly investigated. Twenty-five cases of thigh pain lasting between 1 day and 7 months with mid-femoral periosteal thickening were analysed. There were 10 patients with Ewing's sarcoma, 7 with eosinophilic granuloma, 1 with osteoid osteoma, 1 with leukaemia, 3 with osteomyelitis, 1 with myositis and 2 with post-traumatic periosteal reaction. It was shown that patients with Ewing's sarcoma and eosinophilic granuloma have certain patterns of X-ray changes of high diagnostic value, which allow a proper diagnosis in most cases.     

血液净化治疗非肾脏疾病危重症患儿的临床分析

目的 总结血液净化(blood purification,BP)治疗非肾脏疾病危重症患儿的经验.方法 回顾性分析2009年1月至12月在我院PICU因非肾脏疾病而行BP治疗的10例危重症患儿的临床资料.10例患儿中,5例为急性肝能衰竭;2例自身免疫性疾病,其中1例吉兰-巴雷综合征,1例幼年特发性关节炎(全身型)并发MAS;2例重症脓毒症;1例由于代谢病出现持续性的严重代谢性酸中毒.结果 10例非肾脏疾病危重患儿中,实施CVVH联合PE治疗4例次,单纯CVVH治疗3例,单纯PE治疗3例.临床痊愈7例,好转1例,家长放弃2例.结论 BP作为一种脏器功能替代及支持的新疗法对PICU中肝功能衰竭及自身免疫性疾病等非肾脏病危重症患儿有较好的疗效.     

Serum levels of 25‐hydroxyvitamin D in mothers of Swedish and of Somali origin who have children with and without autism

Aim: To analyse serum levels of 25‐hydroxyvitamin D in mothers of Somali origin and those of Swedish origin who have children with and without autism as there is a growing evidence that low vitamin D impacts adversely on brain development. Method: Four groups of mothers were invited to participate; 20 with Somali origin with at least one child with autism, 20 with Somali origin without a child with autism, 20 of Swedish origin with at least one child with autism and 20 with Swedish origin without a child with autism. Two blood samples were collected from each individual; during autumn and spring. Results: Between 12 and 17 mothers from the different groups accepted to participate, both groups of mothers of Somali origin had significantly lower values of 25‐hydroxyvitamin D compared with Swedish mothers. The difference of 25‐hydroxyvitamin D between mothers of Somali origin with and without a child with autism was not significant. Conclusion: Our findings of low vitamin D levels in Somali women entail considerable consequences in a public health perspective. The observed tendency, i.e. the lowest values in mothers of Somali origin with a child with autism was in the predicted direction, supporting the need for further research of vitamin D levels in larger samples of Somali mothers of children with and without autism.     

Calcium-stimulated insulin secretion in diffuse and focal forms of congenital hyperinsulinism

OBJECTIVES: To identify infants with hyperinsulinism caused by defects of the beta-cell adenosine triphosphate-dependent potassium channel complex and to distinguish focal and diffuse forms of hyperinsulinism caused by these mutations. STUDY DESIGN: The acute insulin response to intravenous calcium stimulation (CaAIR) was determined in 9 patients <20 years with diffuse hyperinsulinism caused by defective beta-cell sulfonylurea receptor (SUR1(-/-)), 3 patients with focal congenital hyperinsulinism (6 weeks to 18 months), a 10-year-old with insulinoma, 5 with hyperinsulinism/hyperammonemia syndrome caused by defective glutamate dehydrogenase (6 months to 28 years), 4 SUR1(+/-) heterozygotes with no symptoms, and 9 normal adults. Three infants with congenital focal disease, 1 with diffuse hyperinsulinism, and the child with insulinoma underwent selective pancreatic intra-arterial calcium stimulation with hepatic venous sampling. RESULTS: Children with diffuse SUR1(-/-) disease and infants with congenital focal hyperinsulinism responded to CaAIR, whereas the normal control group, patients with hyperinsulinism/hyperammonemia syndrome, and SUR1(+/-) carriers did not. Selective arterial calcium stimulation of the pancreas with hepatic venous sampling revealed selective, significant step-ups in insulin secretion that correlated anatomically with the location of solitary lesions confirmed surgically in 2 of 3 infants with congenital focal disease and in the child with insulinoma. Selective arterial calcium stimulation of the pancreas with hepatic venous sampling demonstrated markedly elevated baseline insulin levels throughout the pancreas of the infant with diffuse hyperinsulinism. CONCLUSIONS: The intravenous CaAIR is a safe and simple test for identifying infants with diffuse SUR1(-/-) hyperinsulinism or with focal congenital hyperinsulinism. Preoperative selective arterial calcium stimulation of the pancreas with hepatic venous sampling can localize focal lesions causing hyperinsulinism in children. The combination of these calcium stimulation tests may help distinguish focal lesions suitable for cure by local surgical resection.     

神经系统疾病儿童免疫接种策略

儿童神经系统疾病种类繁多、病情复杂,神经系统疾病儿童的免疫接种困难问题突出.文章从神经系统疾病儿童免疫接种现状、免疫接种相关的神经系统反应免疫接种风险及预后、免疫接种的禁忌证以及不同神经系统疾病儿童免疫接种策略五方面进行阐述,强调指出处于稳定期的神经系统疾病儿童可以接种各类疫苗,疫苗相关的神经系统反应极其罕见.     

Celiac disease with various presentations

BACKGROUND: Celiac disease (CD) has a wide clinical spectrum from malabsorption syndrome to extra intestinal presentations. A total of 45 children with CD presented with mainly chronic diarrhea (n :23), anemia (n: 12), and short stature (n: 10) were evaluated in this study. The aim was to find common parameters of CD with various presentations. METHODS: Basic anthropometric, biochemical and hematological parameters in cases with CD with various presentations were compared. RESULTS: It was found that children with CD presenting with chronic diarrhea were younger. There was no significant difference in hemoglobin levels in children with CD presenting with anemia. Children with CD with short stature had significantly lower serum vitamin B(12) levels and lower levels of height standard deviation scores, bone age delay, and alkaline phosphatase. CONCLUSIONS: It was concluded that children, especially infants with chronic diarrhea with CD, may not be affected with generalized malabsorption. Anemia and short stature are frequent findings in cases with CD whether they are main presenting symptoms or not. Children with CD presenting with short stature may have lower levels of vitamin B(12) than other presentations.     

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目的对促肾上腺皮质激素(ACTH)治疗的婴儿痉挛(IS)患儿进行追踪随访,了解其预后并评价影响预后的因素。方法(1)对北京大学第一医院儿科1993年1月至2003年12月住院的53例ACTH治疗的IS患儿的临床随访资料进行回顾性研究。(2)ACTH治疗方法:采用ACTH静滴,25~40IU/d,共4周。结果(1)对53例ACTH治疗患儿随访6个月至10年,ACTH治疗发作完全缓解的31例,随访2年以上,共有16例复发,复发率为51·6%,其中于停用ACTH后2~3个月复发者占50·0%(8/16),复发形式以肌阵挛发作、痉挛发作、部分运动性发作为主;(2)临床发作预后与开始用ACTH治疗时的病程、ACTH的近期疗效有关(病程≤2个月者、ACTH近期疗效好的临床发作预后好),与发病年龄、病因无关;(3)智力预后与ACTH开始治疗时的病程、病因、发作预后有关(病程≤2个月者、隐原性者、发作完全缓解者智力预后好),与发病年龄、ACTH近期疗效无关。结论(1)IS患儿临床发作预后与开始用ACTH治疗时的病程、ACTH的近期疗效有关。(2)智力预后与ACTH开始治疗时的病程、病因、发作预后有关。     

The impact of severe late-effects after 12 Gy fractionated total body irradiation and allogeneic stem cell transplantation for childhood leukemia (1988–2010)

This study consists of a retrospective study including 71 childhood leukemia survivors (36 females) treated with allo-HSCT 12?Gy fractionated total body irradiation (fTBI) conditioning, with a median age of 25.0?y at time of follow-up and a median delay of 14.8?y since the graft. The recovery ratio was 90%. The number of severe late-effects was specified for each patient: 21 with growth deficiency (final height <162.5?cm for 12/35 men and <152.0?cm for 9/36 women – Growth deficiency was correlated to young age at the time of the allograft); 5 with sclerodermic chronic graft vs. host disease; 9 with osteonecrosis; risk of impaired fertility for 25 women and 28 men (only 2 women had a child); 8 with diabetes; 5 with pulmonary late-effects including 1 death; 5 with chronic renal insufficiency including 1 death; 2 with cardiac late-effects; 2 with arterial high blood pressure; 11 (8 women) declared 14 subsequent cancers (7 with thyroid carcinomas, 3 with multiple squamous cell carcinomas, 2 with epidermoïdis carcinomas of the tongue or the lip, 1 with bone sarcoma, and 1 with carcinoma of the breast); 6 with chelating treatments of hemochromatosis; 14 with important educational underachievement; 11 with depression at adult age; 1 with hepatitis B virus infection; 4 with other severe late-effects, including 2 with blindness. The average number of severe late-effects was 2.3 with a positive correlation according to delay from fTBI (p?<?0.0002). Two-thirds had at least 2 late-effects. These results emphasize the urgent abandonment of conditioning by TBI in children.     

Relation between pancreatic lipase activity and gastric emptying rate in children with cystic fibrosis

OBJECTIVE: To determine whether abnormal gastric emptying is responsible for the inability of pancreatic enzyme replacement therapy (PERT) to normalize fat digestion in patients with cystic fibrosis (CF) who are pancreatic-insufficient.Study design Gastric emptying of a solid meal and pancreatic lipase function were assessed in 10 children with CF and 12 healthy control subjects with noninvasive breath tests using (13)C-octanoic acid and (13)C-mixed triglyceride, respectively. Lipase function was assessed in the subjects with CF with and without PERT. RESULTS: Without PERT, the lipase activity for the patients was less than that for the control subjects (P<.001); however, with PERT, 40% of the patients had a normalized lipase function. There were no differences between the mean gastric emptying rates of the patients with CF and the control subjects (P>.05), but there was a negative correlation between gastric half emptying time and percentage improvement in (13)C-mixed triglyceride results of the patients with CF with pancreatic enzymes compared with placebo (P<.05), with patients with slow gastric emptying having less improvement with PERT. CONCLUSIONS: The success of PERT in improving pancreatic lipase activity is reduced in patients with slow gastric emptying, which could explain the variations in improvement of fat digestion with enzyme supplementation.     

Primary pulmonary hydatid cysts in children—a report of three cases

Three children with a total of six primary pulmonary hydatid cysts, all of whom underwent surgical management, are presented. Of these six hydatid cysts, two were treated with thoracotomy with cyst enucleation and capittonage, three with thoracoscopy-assisted minithoracotomy with enucleation and capittonage, and one with limited resection.     

Anaerobic bacteremia in a neonatal intensive care unit: an eighteen-year experience

A review of anaerobic bacteremia in the Neonatal Intensive Care Unit identified 29 episodes of clinically significant bacteremia occurring over the past 18 years. This experience suggested that certain clinical settings were associated with specific anaerobic infections. Although Gram-positive and Gram-negative anaerobes were isolated with similar frequency, 8 of 12 infants bacteremic within the first 48 hours of life were infected with Gram-positive, penicillin G-susceptible organisms whereas 11 of 17 infants older than 2 days were bacteremic with Gram-negative, penicillin G-resistant anaerobes. Eleven of 17 infants with anaerobic bacteremia associated with necrotizing enterocolitis were bacteremic with Gram-negative anaerobes. Five of 6 infants with anaerobic bacteremia associated with chorioamnionitis were bacteremic with Gram-positive anaerobes. These observations should be considered in making decisions regarding empiric therapy for the newborn at highest risk for anaerobic bacteremia.     

Severity of disease correlated with fever reduction in febrile infants

A prospective study of the effects of fever reduction on the clinical appearance of infants at risk for occult bacteremia was undertaken to study the hypothesis that infants with bacteremic illness fail to improve clinically following defervescence compared with infants with benign viral illness. A total of 154 children were enrolled in the study, including 19 with bacteremia: 13 with occult Streptococcus pneumoniae bacteremia, two with occult Haemophilus influenzae, type b bacteremia, and four with Haemophilus meningitis and bacteremia. There were no differences in degree of temperature reduction with acetaminophen between the bacteremic and nonbacteremic groups of infants. Among infants with bacteremia but without meningitis, differences from nonbacteremic children were detected in clinical appearance prior to fever reduction but not following defervescence. All patients with meningitis appeared seriously ill before and after defervescence. It was concluded that clinical improvement with defervescence is not a reliable indicator of the presence of occult bacteremia. Lack of clinical improvement with defervescence may be a reliable indicator for the presence of meningitis. Because there were differences in clinical appearance prior to fever reduction, routine administration of acetaminophen may interfere with the clinical evaluation by the physician.     

Remission following an elemental diet or prednisolone in Crohn's disease

The short- and long-term effects of an elemental diet in children with acute Crohn's disease were compared with those of prednisolone in historical controls. Clinical remission was induced in 25 of 30 and in 18 of 28 episodes treated for six weeks with an elemental diet and prednisolone. Patients with proximal disease had longer remission after treatment with an elemental diet (p < 0.05) than did patients with colonic disease after treatment with prednisolone (p < 0.01). Disease activity index score improved in both groups compared with the pretreatment scores (p < 0.05). However, the improvement in the elemental diet group was significantly better than in the prednisolone group (p < 0.001). Changes in linear growth were better after treatment with an elemental diet compared with steroids (p < 0.001). Serum albumin and haematocrit concentrations all improved significantly in the children treated with an elemental diet (p < 0.001) but not in those treated with steroids. Thus an elemental diet was better than prednisolone in proximal disease and confirmed improved growth and nutritional status.     

School readiness among urban children with asthma.

BACKGROUND: Children with chronic illnesses, including asthma, are at risk for school problems. Developmental problems, however, may begin before school entry, and the developmental status of preschool children with asthma has not been evaluated. OBJECTIVE: To test the hypothesis that urban preschool children with asthma have lower parent-reported developmental scores compared with children without asthma. METHODS: A comprehensive survey of children beginning kindergarten in 1998 in the urban school system in Rochester, NY, collected parent reports of demographic, medical, and developmental data. We compared children with asthma with and without limitation of activity to children without asthma for motor, language, socioemotional, and school readiness skills and the need for extra help with learning. Linear and logistic regression were used to determine associations between asthma and developmental outcomes. RESULTS: Among the 1058 children in this sample, 9% had asthma, including 5% with asthma with limitation of activity. After adjustment for multiple potential confounding variables, the children with asthma with limitation had lower scores on school readiness skills compared with children without asthma (2.0 vs 2.5, P <.001). Further, the parents of children with asthma with limitation were substantially more likely (P <.05) to describe them as needing extra help with learning (74% vs 56%; odds ratio, 3.2; 95% confidence interval, 1.5--7.8). CONCLUSIONS: Urban preschool children with significant asthma had poorer parent-reported school readiness skills and a greater need for extra help with learning compared with children without asthma. This finding suggests that developmental problems for children with asthma may begin before school entry.     

Pycnodysostosis with visceral manifestation and rickets

Pycnodysostosis is a rare bone disease. Visceral manifestations associated with anemia and/or rickets have been reported in pycnodysostosis. Five children with typical findings of pycnodysostosis with hepatosplenomegaly, anemia with rickets, one with visceromegaly and anemia, and another with rickets alone are reported here. These findings strongly suggest that extramedullary erythropoiesis does occur in pycnodysostosis.     

Panniculitis in childhood and adolescence

Background: The purpose of the present paper was to describe the clinical manifestations and treatment of patients with panniculitis. Methods: From January 1983 to December 2002, 4294 patients were treated for pediatric rheumatological diseases at Pediatric Rheumatology Unit, University of São Paulo, Brazil. Of these, 35 children and adolescents (0.8%) presented with panniculitis: erythema nodosum (EN) or Weber–Christian disease (WCD). Clinical characteristics, laboratory exams, biopsy of the lesion, treatment and clinical course were studied. Results: Of the 35 patients, 29 presented with EN and six with WCD, one of these with cytophagic histiocytic panniculitis. Mean age at symptom onset was 85 months (6–204 months) and the mean duration of follow up was 55 months (1–144 months). All the patients presented with inflammatory subcutaneous nodules. The patients with WCD presented with systemic manifestations and cutaneous atrophy. The principal etiologies of EN were streptococcal infection (42%), undetermined (13.5%), pulmonary tuberculosis (10%), and acute rheumatic fever (10%). Biopsy of the nodules indicated septal panniculitis in 14 patients with EN and lobular panniculitis without vasculitis in the patients with WCD, one of which had cytophagic histiocytic panniculitis. There was recurrence in 11 patients (38%) with EN and in all those with WCD. Non‐steroidal anti‐inflammatory drugs were used in 15 patients with EN and corticosteroids and/or immunosuppressive drugs in the six patients with WCD. Three patients died. Conclusions: EN is the most frequent panniculitis, with a benign course and is mainly associated with infections. WCD is a severe disease, with systemic involvement, that proceeds with cutaneous atrophy and requires the use of corticosteroids and or immunosuppressive drugs.