新生儿先天性心脏病监测与随访

目的探讨新生儿先天性心脏病(先心病)的发病情况和预后。方法(1)以彩色多普勒超声心动图配合尸检为主要诊断依据,对1992至1998年我院出生的31493例新生儿进行先心病发病情况前瞻性调查。(2)对1992至1995年出生的先心病患儿,随访3年。结果(1)以彩色多普勒超声心动图配合尸检,结合随访的修正诊断,检得先心病318例,患病率10.10‰。其中非青紫型255例,占80.2%,青紫型63例,占19.8%。室间隔缺损患病率5.14‰居首位。(2)318例先心病中新生儿期死亡35例,病死率11.0%,1992—1995年出生的167例先心病随访3年,死亡38例(22.8%),1岁内占94.7%,0～28d占68.4%。结论新生儿先心病发病率高,新生儿期是先心病死亡高峰年龄。     

嘉兴市20436例新生儿先天性心脏病流行病学调查

为取得嘉兴地区代表性的新生儿先天性心脏病（简称先心病）发病情况，对１９９２年１月１日～１９９５年１２月３１日嘉兴市市区产科出生的全部活产婴儿２０４３６例进行前瞻性调查。检出先心病２９４例，其中彩色多普勒超声心动图诊断２８４例，尸检确诊１０例。患病率１４．３９‰。以单纯性房间隔缺损（ＡＳＤ）２９．６％和单纯性室间隔缺损（ＶＳＤ）１９．４％居多，其中又以Ⅱ孔型ＡＳＤ和膜部ＶＳＤ最多。复合畸形占３７．１％，以动脉导管未闭（ＰＤＡ）＋ＡＳＤ（１１．９％）居多。出生～７天发生心力衰竭３６例，新生儿期死亡２４例，死亡率１．１７‰。以青紫型复杂畸形为主。提示：先心病的发生与母妊娠早期呼吸道感染有关（χ２＝２１．８４，Ｐ＜０．０１），ＰＤＡ与围产期窒息密切相关（χ２＝２８．００，Ｐ＜０．０１）。     

彩色多普勒超声心动图和超声造影在诊断早期新生儿先天性心脏病中的应用

应用彩色多普勒超声心动图（CDFM）诊断12天内的新生儿先天性心脏病（先心病）185例。6例配合右心声学造影，3例尸检对照。以单纯性室间隔缺损（VSD）21．1％、房间隔缺损（ASD）18．9％、动脉导管未闭（PDA）16．2％最多。2种或2种以上的复合畸形占38．9％，CDFM可准确地诊断先心病部位、类型、大小和分流方向。配合声学造影可提高复杂性先心病的诊断准确性。连续多普勒测压配合CDFM和声学造影是直接诊断和鉴别伴有肺动脉高压的青紫型先心病与持续性肺动脉高压的重要方法。     

新生儿先天性心脏病患病率的调查和孕妇增补叶酸的预防效果

目的 探讨新生儿先天性心脏病(先心病)患病率和妊娠初期增补叶酸的预防效果。方法 对1992年1月1日至1998年12月31日嘉兴市妇幼保健院出生的全部活婴31 470例,进行先心病前瞻性调查;调查1996年8月1日至1998年7月31日7 445例活产婴儿的母亲孕前1月至孕后3月内增补叶酸情况与先心病的发病关系;调查1994年6月1日至1998年12月31日出生的217例先心病的母亲妊娠初期增补叶酸情况。结果 31 470例新生儿中检得先心病312例,不包括单纯性动脉导管未闭和缺损直径小于5 mm的房间隔缺损(ASD)。其中彩色多普勒超声心动图(CDFM)诊断298例,尸检确诊14例,患病率9.91‰。室间隔缺损(VSD)居首位(51.6%),患病率5.12‰。重症复杂先心病新生儿期死亡32例,病死率10.3%。7 445例新生儿的母亲孕期增补叶酸情况与先心病患病率关系,增补叶酸组先心病患病率7.43‰,未补组患病率15.17‰。两组患病率差异有显著性意义,(P<0.01),相对危险度(RR)0.4898,归因危险度(AR)0.00774,归因危险比数(ARP)51.02%。重症复杂先心病患病率未补组为增补组的4.6倍。217例先心病中母亲孕初增补叶酸组占30.9%,未补组占69.1%。重症复杂畸形增补组7例占11.4%,未补组34例占22.7%。结论 应用CDFM是先心病检出率增加的主要原因。妊娠初期增补叶     

彩色多普勒超声心动血流图诊断新生儿先天性心脏病142例

彩色多普勒超声心动血流图诊断新生儿先天性心脏病１４２例杨江帆，许月珍，李萍，杨戎威先天性心脏病（简称先心病）是新生儿最常见的先天畸形。１９９１年１１月以来，对我院出生的活婴应用彩色多普勒超声心动血流图（ＣＤＦＭ）、右心声学造影和尸检等进行前瞻性筛查，...     

心血管系统疾病

961,21彩色多普勒超声心动图和超声造影在诊断早期新生儿先天性心脏病中的应用/杨江帆一//新生儿科杂志一1995,10(5).一209~211 应用彩色多普勒超声心动图(cDFM)诊断12天内的新生儿先天性心脏病(先心病)185例。6例配合右心声学造影,3例.尸检对照。以单纯性室间隔缺损(vSD)21.1%,房间隔缺损(ASD)18.9%,动脉导管未闭(PDA)16.2%最多。2种或2种以上的复合畸形占38.9%,CDFM可准确地诊断先心病部位、类型、大小和分流方向。配合声学造影可提高复杂性先心病的诊断准确性。连续多普勒测压配合CDFM和声学造影是直接诊断和鉴别伴有肺动脉高压…     

心血管系统疾病

981324心脏发育的分子生物学和先天性172中国医学文摘·儿科学1998年第17卷第3期心脏病/李松…//新生儿科杂志.一1997,12(3)一132一135 981325嘉兴市20 436例新生儿先天性心脏病流行病学调查/杨江帆…//中华儿科杂志一1997,35(8)一416一419 为取得嘉兴地区代表性的新生儿先天性心脏病(简称先心病)发病情况,对1992年1月1日一1995年12月31日嘉兴市市区产科出生的全部活产婴儿20 436例进行前瞻性调查。检出先心病294例,其中彩色多普勒超声心动图诊断284例;尸检确诊10例,患病率14 .39%。。以单纯性房间隔缺损(ASD)29.6%和单纯性室间隔缺损(VS…     

新生儿室间隔缺损自然闭合的超声随访研究

随着出生缺陷筛查工作的开展和彩色多普勒超声技术的进展，新生儿期室间隔缺损（VSD）的检出已占先天性心脏病首位，但部分VSD有自然闭合的倾向。为使临床医生了解VSD自然闭合的规律，更好地缓解家属的紧张隋绪，对我院自1995年1月至2005年1月出生的新生儿进行筛查，检出不伴其他复杂畸形的VSD新生儿86例，并对所有病例进行随访。     

新生儿先心病214例临床分析

新生儿先天性心脏病(简称先心病)是胚胎期心血管发育异常而造成的先天畸形,是新生儿期主要死亡原因之一。我院1975～1985年间共收治新生儿12,395例,临床诊断为先心病者479例。占同期住院病人的3.86％,经筛选将其中临床资料齐全(具备先心病的临床表现、X线胸片证实心脏外形及肺血有改变、超声心动图有阳性发现及尸检证实)的214例报告如下。     

上海市杨浦,徐汇区小儿先天性心脏病发病率及其特点

为取得上海地区代表性的小儿先天性心脏病（简称先心病）发病率，对杨浦区、徐汇区在１年内出生的全部活产婴儿２００８２名进行前瞻性调查１～３年。按统一调查内容和要求对每个小儿在１岁内筛查６次，体检不少于１次。杨浦区对本区的调查对象在２岁及３岁时再筛查１次，对可疑者作心电图、胸部Ｘ线、二维或多普勒超声心动图检查，必要时作心导管、选择性心血管造影确诊，部分病例由尸检和手术证实。检得先心病１３８例，发病率为６．８７‰，与国外相似。非青紫型１０８例，占７８．３％；青紫型３０例，占２１．７％。其中室间隔缺损（简称室缺）７８例，达５６．５％，占第１位，明显高于国外的有关报道。左心病变３例，占２．２％，明显低于欧美。此调查为今后先心病的防治提供确切的资料。     

Allergic factors associated with the development of asthma and the influence of cetirizine in a double-blind, randomised, placebo-controlled trial: First results of ETA®

There is a common progression known as the allergic march from atopic dermatitis to allergic asthma. Cetirizine has several antiallergic properties that suggest a potential effect on the development of airway inflammation and asthma in infants with atopic dermatitis. Methods. Over a two year period, 817 infants aged one to two years who suffered from atopic dermatitis and with a history of atopic disease in a parent or sibling were included in the ETAC^® (Early Treatment of the Atopic Child) trial, a multi-country, double-blind, randomised, placebo-controlled trial. The infants were treated for 18 months with either cetirizine (0.25mg/ kg b.i.d.) or placebo. The number of infants who developed asthma was compared between the two groups. Clinical and biological assessments including analysis of total and specific IgE antibodies were performed. Results. In the placebo group, the relative risk (RR) for developing asthma was elevated in patients with a raised level of total IgE (≥ 30 kU/I) or specific IgE (≥ 0.35 kUA/I) for grass pollen, house dust mite or cat dander (RR between 1.4 and 1.7). Compared to placebo, cetirizine significantly reduced the incidence of asthma for patients sensitised to grass pollen (RR = 0.5) or to house dust mite (RR = 0.6). However, in the population that included all infants with normal and elevated total or specific IgE (intention-to-treat - ITT), there was no difference between the numbers of infants developing asthma while receiving cetirizine or placebo. The adverse events profile was similar in the two treatment groups. Discussion. Raised total IgE level and raised specific IgE levels to grass pollen, house dust mite or cat dander were predictive of subsequent asthma. Cetirizine halved the number of patients developing asthma in the subgroups sensitised to grass pollen or house dust mite (i.e. 20% of the study population). In view of the proven safety of the drug, we propose this treatment as a primary pharmacological intervention strategy to prevent the development of asthma in specifically sensitised infants with atopic dermatitis.     

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孤独症谱系障碍(autistic-spectrum disorders,ASDs)近年来患病率逐年攀升至1%左右,其症状往往伴随终生,成为严重威胁儿童健康和发展的神经发育性疾患;注意缺陷多动障碍(attention deficit hyperactivity disorder,ADHD)是儿童期最常见的精神障碍,国内报道患病率为4.13%～5.83%,其症状可延续至青少年期,甚至到成年期[1]。这两类精神障碍在成年期的临床表现、共患病、治疗策略和预后与儿童期有哪些不同呢?本文通过回顾相     

EXCITING NEW TREATMENT APPROACHES FOR PATHYPHYSIOLOGIC MECHANISMS OF SICKLE CELL DISEASE

During the past several decades, our understanding of the complex pathophysiology of vasoocclusion associated with sickle cell disease has improved greatly. Interaction of genes, hemoglobin molecules, red cell membrane and metabolic changes, cell-cell interactions and cell-plasma interactions, red cell adhesion to vascular endothelium, activation of coagulation, and vascular reactivity play a role in vaso occlusion. Penicillin prophylaxis of pneumococcal infections and appropriate use of blood transfusions and other supportive measures improved survival of sickle cell patients. Hydroxyurea made a major impact on sickle cell therapy when it was shown to decrease acute painful episodes, acute chest syndrome, and the need for blood transfusion in adults. Significant experience in the use of hydroxyurea has been accumulated in older children. The benefits and risks of hydroxyurea for younger children and long-term risks in all patients will be evaluated in future investigations. Other promising therapies include butyrate compounds, clotrimazole, magnesium supplementation, poloxamer 188, antiadhesion agents, anticoagulant approaches, and nitric oxide. Hemopoietic transplantation remains the only curative therapy. However, several transgenic mouse models are available for studies of gene therapy or other treatment approaches on biochemical, cellular, and pathologic effects of mutant genes.     

Infiltrations of Epstein-Barr virus-carrying cells in granular lymphocyte-proliferative disorders corresponding to chronic active Epstein-Barr virus infection

A 21-year-old man with granular lymphocyte-proliferative disorders (GLPD) associated with chronic active Epstein-Barr virus (EBV) infection is described. Chromosomal analyses revealed several clonal abnormalities and two of them were mainly repetitious. High copy numbers of monoclonal EBV genome were also detected in the proliferative large granular lymphocytes (LGLs), indicating the monoclonal expansion of EBV-infected LGLs. The patient had an indolent course for several years, and there was no evidence of infiltrations of his bone marrow until the end stage. At autopsy, microscopic studies revealed marked infiltrations of LGL in the liver and spleen, and the infiltrating cells were NK-cell immunophenotype. The infiltrated LGLs showed latency I.     

LUTEINIZING HORMONE RECEPTOR MUTATIONS IN DISORDERS OF SEXUAL DEVELOPMENT AND CANCER

Human male sexual development is regulated by chorionic gonadotropin (CG) and luteinizing hormone (LH). Aberrant sexual development caused by both activating and inactivating mutations of the human luteinizing hormone receptor (LHR) have been described. All known activating mutations of the LHR are missense mutations caused by single base substitution. The most common activating mutation is the replacement of Asp-578 by Gly due to the substitution of A by G at nucleotide position 1733. All activating mutations are present in exon 11 which encodes the transmembrane domain of the receptor. Constitutive activity of the LHR causes LH releasing hormone-independent precocious puberty in boys and the autosomal dominant disorder familial male-limited precocious puberty (FMPP). Both germline and somatic activating mutations of the LHR have been found in patients with testicular tumors. Activating mutations have no effect on females. The molecular genetics of the inactivating mutations of the LHR are more variable and include single base substitution, partial gene deletion, and insertion. These mutations are not localized and are present in both the extracellular and transmembrane domain of the receptor. Inactivation of the LHR gives rise to the autosomal recessive disorder Leydig cell hypoplasia (LCH) and male hypogonadism or male pseudohermaphroditism. Severity of the clinical phenotype in LCH patients correlates with the amount of residual activity of the mutated receptor. Females are less affected by inactivating mutation of the LHR. Symptoms caused by homozygous inactivating mutation of the LHR include polycystic ovaries and primary amenorrhea.     

Personality profiles and heart rate variability (vagal tone) in children with recurrent abdominal pain

The aim of the study was to explore psychological factors and autonomic activity in children with recurrent abdominal pain and to compare them with those in a control group of healthy children. The Personality Inventory for Children was used for assessment of developmental, emotional and psychosocial factors in 25 children with recurrent abdominal pain (age, 7-15 y). Parasympathetic and sympathetic functions in these children and in 23 healthy control subjects (age, 7-13 y) were also investigated, non-invasively using a computerized polygraph. Vagal tone (parasympathetic function) was indexed by calculation of respiratory sinus arrhythmia in beats/min. Skin conductance (sympathetic function) was recorded by the constant current method. On the Personality Inventory for Children, 16 patients had high scores on somatic concern. Several patients had scores in the clinical range for depression, withdrawal and anxiety, but the mean scores for these personality profile scales were well within the normal range of healthy children. Interestingly, there was a spike on the L (Lie)-scale for most of the patients and 15 patients had scores above or close to the clinical cut-off value. As compared with the scores in healthy children, vagal tone and sympathetic tone were normal. Conclusion: Many children with recurrent abdominal pain have scores in the clinical range for depression, withdrawal, anxiety and L-scale indicating coping problems, denial and a trend towards somatic concern that may contribute to the evolution of abdominal pain. Autonomic nerve activity was not disturbed in these children.     

Overcoming surfactant inhibition with polymers

Inhibition of the function of pulmonary surfactant in the alveolar space is an important element of the pathophysiology of many lung diseases, including meconium aspiration syndrome, pneumonia and acute respiratory distress syndrome. The known mechanisms by which surfactant dysfunction occurs are (a) competitive inhibition of phospholipid entry into the surface monolayer (e.g. by plasma proteins), and (b) infiltration and destabilization of the surface film by extraneous lipids (e.g. meconium-derived free fatty acids). Recent data suggest that addition of non-ionic polymers such as dextran and polyethylene glycol to surfactant mixtures may significantly improve resistance to inhibition. Polymers have been found to neutralize the effects of several different inhibitors, and can produce near-complete restoration of surfactant function. The anti-inhibitory properties of polymers, and their possible role as an adjunct to surfactant therapy, deserve further exploration.     

How well are we doing? – Metabolic control in patients with diabetes

OBJECTIVE: To compare the present level of metabolic control in children and adolescents with insulin-dependent diabetes mellitus (IDDM) attending Brisbane paediatric diabetes clinics with published overseas data. METHODOLOGY: Blood HbA1c concentrations, population characteristics, current treatment practices and short-term complications were recorded in all patients, aged 19 years and under, attending the diabetes clinics of the two Brisbane Children's Hospitals or the private practice of one of the authors (MJT) in the first quarter of 1998. RESULTS: Two hundred and sixty-eight patients were assessed (M/F 142/126). Ages ranged from 1 to 19 years (mean 11. 2 years); duration of IDDM was 0-16 years (mean 4.4 years); and 141 (53%) were pubertal. Of those aged less than 13 years, only 4% had more than two injections daily. Insulin doses (U/kg/day) rose with increasing age. Larger doses were required in regimens involving more than two injections per day than those involving one to two injections per day. Ketoacidosis or severe hypoglycaemia in the last 3 months were reported in eight (2.7%) and 17 (6.3%) of patients, respectively. Mean HbA1c (+/- SD) was 8.6 +/- 1.4% (range 5.2-14.0%), with 33% of children having a HbA1c concentration < 8%. HbA1c concentrations were significantly related (P < 0.05) to insulin dose and to duration of diabetes, but not to severe hypoglycaemia, ketoacidosis, age, frequency of injections, or number of clinic visits per year. Mean HbA1c concentration was significantly higher (P < 0.05) in those children in puberty (8.7 +/- 1.5%) than in those not in puberty (8.5 +/- 1.2%). CONCLUSION: Only 33% of patients had a HbA1C concentration less than 8% and 6.3% had a severe hypoglycaemic episode in the 3 months. These results are similar to published overseas data.     

MAINTENANCE OF DIFFERENTIATED FUNCTION OF THE SURFACTANT SYSTEM IN HUMAN FETAL LUNG TYPE II EPITHELIAL CELLS CULTURED ON PLASTIC

We report a simplified culture system for human fetal lung type II cells that maintains surfactant expression. Type II cells isolated from explant cultures of hormone-treated lungs (18-22 wk gestation) by collagenase + trypsin digestion were cultured on plastic for 4 days in serum-free medium containing dexamethasone (Dex, 10 nM) + 8-bromo-cAMP (0.1 mM) + isobutylmethylxanthine (0.1 mM) or were untreated (control). Surfactant protein (SP) mRNAs decreased markedly in control cells between days 1 and 4 of culture, but mRNA levels were high in treated cells on day 4 (SP-A, SP-B, SP-C, SP-D; 600%, 100%, 85%, 130% of day 0 content, respectively) . Dex or cAMP alone increased SP-B, SP-C, and SP-D mRNAs and together had additive effects. The greatest increase in SP-A mRNA occurred with cAMP alone. Treated cells processed pro-SP-B and pro-SP-C proteins to mature forms and had a higher rate of phosphatidylcholine (PC) synthesis (2-fold) and higher saturation of PC (~34% versus 27%) than controls. Only treated cells maintained secretagogue-responsive phospholipid synthesis. By electron microscopy, the treated cells retained lamellar bodies and extensive microvilli. We conclude that Dex and cAMP additively stimulate expression of surfactant components in isolated fetal type II cells, providing a simplified culture system for investigation of surfactant-related, and perhaps other, type II cell functions.