特发性矮小患儿生长激素受体基因Ex3多态性与重组人生长激素疗效分析

目的：观察生长激素受体（GHR）基因Ex3多态性与重组人生长激素（rhGH）治疗青春期前特发性矮小（ISS）疗效间的相关性。方法：青春期前ISS患儿30例,均采用rhGH［0.116±0.02 IU/(kg/d)］治疗;其外周血白细胞中抽提基因组DNA,采用多重PCR扩增GHR基因Ex3区域。对不同基因型患儿治疗后生长速率（GV）、年龄对应身高标准差积分（HtSDSCA）及骨龄对应身高标准差积分（HtSDSBA）、预测终身高进行比较。结果：rhGH治疗半年后d3/d3基因型组GV较fl/fl基因型组明显增加［（6.3±1.6）cm/年 vs （3.4±0.5）cm/年,P<0.05］。结论：ISS患儿GHR Ex3基因型与rhGH促生长疗效存在一定关联,d3/d3等位基因型患儿用rhGH治疗后生长速率明显优于fl/fl等位基因型。［中国当代儿科杂志,2010,12（9）：730-733］     

重组人生长激素治疗特发性矮小12个月疗效评估

目的 分析重组人生长激素(rhGH)对特发性矮小（ISS）患儿的治疗效果和影响因素,为寻求优化治疗效果的途径提供参考依据。 方法 回顾性分析2003年2月至2011年7月在首都儿科研究所生长发育门诊确诊为ISS患儿的临床资料,依据是否予rhGH治疗分为rhGH组和对照组。以身高标准差变化（ΔHtSDS）和生长速度（GV）作为评估指标进行疗效和影响因素分析。分析治疗期间骨龄、身高年龄及胰岛素样生长因子(IGF-1)水平的变化。 结果 rhGH组35例,对照组33例进入分析。①rhGH组治疗前、治疗后12个月HtSDS呈增长趋势(P<0.05);对照组均未见升高趋势。治疗后0～3个月的ΔHtSDS水平为(0.22±0.13),治疗后~6、~9和~12个月分别为(0.20±0.10)、(0.12±0.14)和(0.14±0.15),呈降低趋势,但差异无统计学意义。治疗后0～3个月GV为(10.78±2.70) cm·year-1,治疗后~6、~9和~12个月分别为(10.52±2.44)、(8.31±2.78)和(8.50±2.29) cm·year-1,呈降低趋势,但差异无统计学意义。治疗后0~6个月ΔHtSDS和GV水平均显著高于～12个月［ΔHtSDS :(0.43±0.20) vs (0.27±0.24), GV: (10.48±2.17) vs (8.48±2.39) cm·year-1］。②治疗后12个月的ΔHtSDS水平与治疗开始时的年龄呈负相关,与治疗后0～3个月的ΔHtSDS呈正相关;治疗后12个月的GV水平与治疗前的GH峰值和治疗后3个月的GV水平呈负相关。③治疗后1年青春期前、青春早中期和青春后期ΔHtSDS差异总体上有统计学意义（P=0.016）,其中青春期前显著高于青春早中期和青春后期;GV差异无统计学意义。④rhGH组治疗后12个月的骨龄变化差异无统计学意义,身高年龄显著高于对照组。⑤rhGH组IGF-1水平在治疗后1个月升高较明显,之后升高趋势减缓。 结论 rhGH用于ISS患儿的治疗应尽量选择青春期前;治疗后3个月的效果可作为第1年治疗效果的预测因素;rhGH治疗不会使ISS患儿骨龄明显提前。     

重组人生长激素治疗特发性矮小患儿的疗效

目的 观察重组人生长激素( rhGH)治疗特发性矮小(ISS)的疗效.方法 2007年2月-2011年4月在本院儿科就诊并诊断为ISS的患儿62例.男38例,女24例；年龄5～12岁.每晚睡前皮下注射rhGH 0.15 IU· kg-1·d-1,观察1 a,自身比较生长速度(GV)、骨龄(BA)、体质量、身高、年龄对应的身高标准差积分( HtSDSCA)、BA对应的身高标准差积分(HtSDSBA)、BA/年龄( BA/CA)、预测成年身高(PAH)、胰岛素样生长因子-1(IGF-1)水平.结果 治疗1 a后,GV由治疗前(4.03±0.69) cm·a-1提高到(8.94±1.74) cm·a-1,身高由( 116.16±16.09) cm提高到(125.26±14.72) cm,HtSDSCA由-2.83±0.91提高到-2.07±0.94,HtSDSBA由0.21±1.01提高到1.14±1.25,PAH由(166.26±9.08) cm提高到(172.46±8.32) cm,治疗前后比较均有统计学差异.而BA、体质量、BA/CA 、IGF-1治疗前后比较差异均无统计学意义.结论 rhGH对ISS患儿促生长作用显著,且对BA无明显影响,不良反应少.     

正常青春期少女及特发性中枢性性早熟女孩生长激素结合蛋白、性激素与生长

本文对41例青春期女孩及30例特发性中枢性性早熟(ICPP)女孩。观察其身高、体重、身高增长速度、骨龄与生长激素结合蛋白(GHBP)、雌二醇(E_2)的相关关系,结果示GHBP在青春各期间无显著差异,GHBP与身高生长速度(GV)、身高标准差分(HtsDs)、体重指数(BMI)呈正相关,GHBP与E_2、年龄(CA)、骨龄(BA)无相关关系。正常青春少女与ICPP女孩相应青春期血清GHBP无明显差异,ICPP女孩GHBP与HtsDs及BMI呈正相关关系,与E_2、CA及BA无相关关系。提示正常青春少女及ICPP女孩的生长,在GH轴调控途径上,至少在生长激素受体(GHR)/GHBP水平是相同的。GHBP受营养的正性影响,不受年龄、骨龄影响。     

内分泌系统疾病

071372重组人生长激素治疗生长激素缺乏症患儿影响生长速度疗效的因素/潘思年…∥中华儿科杂志.-2006,44(7).-544~54594例生长激素缺乏症(GHD)患儿治疗前年生长速度(GV)(4.4±1.6)cm,用重组人生长激素(rhGH)后,生长速度明显加快(P<0.01),以头6个月的GV最快,第2~5年GV渐降,但无统计学意义。相关分析提示:头6个月生长速度(GV1)与骨龄(BA0)、类胰岛素样生长因子(IGF-1)SDS、身高Z分值(HtSDS)和激发试验GH峰(SPGH)呈负相关。逐步回归分析显示:BA0和SPGH是影响GV1的独立因素。认为用rhGH治疗至少在头4年内能使GHD患儿呈现有效…     

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目的探讨重组人生长激素(rhGH)对青春中、后期特发性矮小症(ISS)患儿的促生长效应。方法于2003-10—2005-03在天津市南开医院就诊的19例青春中、后期ISS患者按骨龄被分为3组,A组骨龄13.0~13.9岁,10例(男7,女3);B组骨龄14.0~14.9岁,6例(男4,女2);C组骨龄15.0~16.0岁,3例(男2,女1)。每晚睡前皮下注射rhGH0.18~0.20IU/kg,共6个月。结果3组ISS患者的身高分别由治疗前(138.4±1.2)cm、(144.2±1.8)cm和(152.8±4.4)cm增至(144.4±1.6)cm、(148.7±1.2)cm和(155.3±6.5)cm。3组患儿于治疗的前3个月促生长效果较明显,后3个月A组的促生长效果明显高于B组、C组,且依次递减,组间生长速度差异有显著性意义(P<0.05);3组患儿用药前、后的体重、骨龄变化差异无显著性意义(P>0.05);所有患者用药前后的甲状腺功能、血糖、血尿常规均正常。结论rhGH治疗对青春中后期特发性矮小症有促生长效应,但应密切随访。     

重组人生长激素对青春后期特发性矮小女童促生长的疗效

目的探讨重组人生长激素(rhGH)对青春后期特发性矮小(ISS)女童的促生长效应。方法选取30例青春后期ISS女童。年龄12～14岁;身高143～149cm。分为治疗组和对照组,每组均为15例。治疗组患儿均单独接受GH治疗,治疗剂量为0.15IU.kg-1.d-1,临睡前皮下注射,疗程6个月;对照组未使用任何药物,观察6个月。结果治疗组生长速率(GV)由治疗前(2.20±0.56)cm.a-1提高至(3.40±1.37)cm.a-1,与对照组比较有统计学差异(P<0.05);骨龄(BA)由治疗前(13.3±1.7)岁增加到(13.9±1.6)岁,与对照组比较无统计学差异(P>0.05)。预测成年身高(PAH)由(146.2±3.1)cm提高到(149.3±3.4)cm,与对照组比较有统计学差异(P<0.05)。治疗组治疗前后GV和FAH比较差异均有统计学意义(Z=-2.05、-2.43,Pa<0.05);而BA比较差异无统计学意义(Z=0.65,P>0.05)。结论GH治疗能改善青春后期ISS女童的GV,而BA加速不明显,疗效肯定,无明显不良反应。     

矮小症病因及临床特征分析

目的探讨矮小症的病因及临床特点。方法回顾分析1995年5月到2017年7月治疗的2 075例矮小症患儿的临床资料,分析病理性矮小和正常变异性矮小的病因及分布频率,分析生长激素缺乏症(GHD)、特发性矮小(ISS)、体质性生长延迟(CDG)和家族性矮小(FSS)的临床特征差异,分析严重矮小(身高SDS≤-3)及一般性矮小(身高SDS-3)的病因差异。结果在2 075例诊断为矮小症的患儿中,1 719例(82.84%)为病理性矮小,其中GHD(38.60%)和ISS(22.02%)较为多见。356例(17.16%)为正常变异性矮小,FSS、CDG分别占10.70%和6.46%。4种常见儿童矮小症(GHD、ISS、CDG和FSS)的性别比、初诊年龄、身高标准差比值(SDS)、体质指数(BMI)、骨龄、骨龄延迟的差异均有统计学意义(P0.01)。4种儿童矮小症均男性多于女性。GHD组身高SDS最低,CDG组最高;GHD组BMI最高,而CDG和ISS组则较低;GHD组骨龄延迟最多,而CDG组最少。严重矮小组中,完全性生长激素缺乏症、多垂体激素缺乏症、小于胎龄儿、特纳综合征、甲状腺功能减退症、Russell-Silver综合征的比例高于一般性矮小组;而部分性生长激素缺乏症、ISS、FSS、CDG的比例低于一般性矮小组。结论矮小症病因复杂,分析病因及临床特征有助于临床诊断和治疗。     

重组人生长激素治疗特发性矮小儿童12例

目的　观察重组人生长激素 (rhGH)治疗特发性矮小儿童促生长作用。方法　对 12例特发性矮小儿童使用rhGH治疗 0 .5 7± 0 .18年 ,比较治疗前后年生长速率和预测成年身高结果。结果　经治疗后特发性矮小儿童的年生长速率和预测成年身高有显著提高 ,身高年龄增长明显快于生活年龄和骨龄的增长。结论　rhGH对特发性矮小儿童具有促生长作用     

国产基因重组人生长激素治疗特发性矮小患儿的疗效

目的观察基因重组人生长激素(r-hGH)治疗特发性矮小(ISS)患儿促生长的疗效及对ISS患儿免疫功能影响。方法ISS患儿16例均采用r-hGH治疗,0.12U/(kg·d),每晚睡前0.5 h皮下注射,注射部位在脐周、大腿外侧及上臂外侧等, 总疗程6个月,治疗前后检测患儿身高、体质量、骨龄、骨龄预测身高、生长速率及血清免疫球蛋白改变。结果16例生长速率由(1.5±0.4)cm/6个月提高到(6.5±1.7)em/6个月,骨龄增长小于生活年龄增长,治疗前后通过骨龄预测身高由(150.0±11.7)cm提高到(156.0±8.9)cm,r-hCH治疗后患儿IgA显著提高(P<0.01)。结论国产r-hGH对ISS治疗安全、有效,不仅有促生长作用,同时能改善机体免疫功能。     

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.     

Resurgence of measles in Singapore: profile of hospital cases

OBJECTIVE: To ascertain the profile of cases of measles seen at a general hospital during a recent outbreak that occurred despite a measles vaccination program. METHODOLOGY: A retrospective study from January 1991 to March 1998. All patients with measles (ICD code 055. 9) seen at the emergency unit or as inpatients were included. RESULTS: There were 87 cases identified. The diagnosis was clinical in all and proven serologically in 71%. Eighty-five per cent of the cases occurred between January 1997 and March 1998. There was a bi-modal age distribution with peaks in the very young (相似文献   

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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.     

A profile of respiratory symptoms in urban and rural South Australian school children

This report describes the cross-sectional analyses of data from the first year of a longitudinal study using questionnaire and respiratory function data over a 5 year period from a sample of rural South Australian school children. The cumulative or lifetime prevalences of respiratory symptoms were estimated in 825 rural and 1261 urban school children aged between 5 and 15 years in order to determine if the prevalence rates differed between rural and urban school children. The study found the overall cumulative prevalence of asthma and/or wheezy breathing (AWB) to be 24.1% in the rural school children compared to 27.6% in the urban school children. Most children developed AWB symptoms before the age of 7 years, with 20% reporting moderately severe symptoms and 10% having more than one attack per fortnight. The cumulative prevalence of bronchitis, loose/rattly cough (BLRC) differed significantly between the rural school children (34.1%) and urban school children (47.9%). The BLRC symptoms preceded the development of AWB in many cases. Urban school children also reported a higher prevalence of atopic conditions.     

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.     

Hauttemperaturen verschiedener Körperoberflächenareale des Rumpfes bei Säuglingen

Summary In two groups of infants (3–53 weeks old) skin temperatures were controlled in different areas of the trunk—i.e.: regions of sternum, lungs, heart, liver, spleen, kidneys—at different room-temperatures (group I: 21–25°C; group II: 29–32°C). Rectal temperatures of some probands in both groups also had been controlled simultaneously. A definite change in the reaction to heat was proofed in different periods of the first year of life. In higher environmental temperatures the skin temperature was almost constant at every controll-point of the skin, even in older infants. In lower environmental temperatures the skin temperatures lowered continuously with age till 7. to 9. moth. From 10. to 12. month the lowering of skin temperature discontinued. The rectal temperatures were relatively constant in all infants. Only in infants from 7. to 12. month, whose skin temperatures were controlled in lower as well as in higher environmental temperatures, a tendency to higher rectal temperatures was proofed in warmer environmental temperatures.The significance of these results is discussed.

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Untersuchungen mit Unterstützung durch die Deutsche Forschungsgemeinschaft.