先天性甲状腺功能低下症127例

目的探讨先天性甲状腺功能低下症（CH）患儿诊治措施及预后情况。方法对本院筛查中心确诊并随访3年以上的127例CH患儿资料进行分析。男59例,女68例;年龄3.0~6.5岁。确诊年龄10~56 d,平均29.79 d。对筛查阳性可疑患儿召回后抽静脉血进行血清促甲状腺素（TSH）、三碘甲酰原氨酸（T3）、甲状腺素（T4）及游离三碘甲酰原氨酸（FT3）、游离甲状腺素（FT4）测定以确诊。一旦确诊立即予治疗。根据TSH、T3、T4水平调整药物剂量,定期随访复查甲状腺功能并进行体格、智力发育评价及骨龄分析和甲状腺B超、核素扫描等检查。结果127例血清TSH均明显增高（〉50 m IU/L）伴T4或FT4下降,其中55例伴T3、FT3下降。服用甲状腺片或优甲乐治疗后,68例血TSH、T3、T4迅速恢复正常。2岁左右停药观察,随访6~12个月,复查甲状腺功能均正常,诊断为暂时性甲状腺功能低下者终止治疗。另59例随访期间优甲乐剂量随年龄增长需渐加量,甲状腺B超异常,考虑永久性甲状腺功能低下目前继续服药。结论甲状腺发育不良（包括缺如、异位、发育不良）是引起永久性甲状腺功能低下最常见的原因。其治疗应根据病情采用不同的剂量并定期复查,使剂量达个体化为宜。     

内分泌系统疾病

020569湖南省斯生儿先天性甲状腺功能减低症和苯丙酮尿症的筛查分析/黄定梅…//中国现代医学杂志.一2001,11(8)一44一45 目的:了解湖南省新生儿先夭性甲状腺功能减低症(CH)和苯丙酮尿症(PKU)的发病情况,早期诊断和治疗。方法:采用时间分辨荧光免疫法(DELFIA)测定促甲状腺素(TSH)浓度,使用盖塞利细菌抑制法或荧光法测定血苯丙氨酸(Phe)浓度。对TSH)20拼u/L或Phe)0.26mmol/以Zm以dl)者,进行确诊检查,确诊后给予治疗并随访。结果:湖南省部分地区46 323例新生儿,确诊为CH28例(包括3例TSH延期上升型CH),PKU患儿1例。经治疗随访患者…     

儿童Van Wyk-Grumbach 综合征1 例报告并文献复习

目的探讨Van Wyk-Grumbach综合征(VWGS)的早期诊断和治疗。方法回顾分析1例VWGS患儿的临床资料,并复习相关文献。结果患儿,女,9岁,因身高增长缓慢、肥胖3年,伴乳房增大6个月、阴道出血3个月就诊。游离甲状腺素(FT4)0.46 ng/d L,促甲状腺素(TSH)150 m IU/L;GnRH激发试验提示性腺轴未启动;血泌乳素、雌二醇明显升高;骨龄延迟;彩色超声示子宫、卵巢增大,可见卵巢囊肿;垂体MRI示腺垂体增生。予左甲状腺素钠治疗2个月后甲状腺功能恢复正常,复查彩超示双卵巢明显缩小,体质量减轻6 kg,未再阴道出血;3个月后双卵巢至正常大小,鞍区MRI占位缩小;6个月后复查彩色超声示子宫、卵巢大小正常,无卵巢囊肿,鞍区MRI占位消失。结论 VWGS是长期未经治疗的严重原发性甲状腺功能减退症少见的并发症,好发于青春期女童,甲状腺素替代治疗有效。     

儿童甲状腺功能减低并发垂体增生8例报告

目的：探讨甲状腺功能减低致垂体增生的内分泌激素的改变及治疗效果。方法：回顾性分析8例甲状腺功能减低致垂体增生儿童（3例男性,5例女性,年龄5～9岁）的临床资料,治疗随访1～6年。结果：8例患儿的甲状腺激素水平均降低,促甲状腺素（TSH）及血浆泌乳素（PRL）水平增高,予以甲状腺素替代治疗,用药2～6月后,血清游离三碘甲腺原氨酸(FT3)、游离四碘甲腺原氨酸(FT4)、TSH及PRL恢复正常,垂体体积恢复正常大小。其中6 例身高增长由治疗前3.1±0.5 cm/年,提高到治疗后11.6±1.7 cm/年,差异有显著性(P<0.01)。另外2例儿童甲状腺素替代治疗后身高增长不理想,予以基因重组人生长激素（rhGH）治疗后,随访身高增长为11 cm/年。8例均无垂体增生复发。结论：对于身材矮小儿童进行甲状腺功能及垂体检查十分必要,甲状腺素替代治疗是儿童甲状腺功能减低致垂体增生的有效手段。在垂体增生恢复后仍然合并生长激素缺乏的患儿予以生长素治疗可以获得满意的身高增长。［中国当代儿科杂志,2010,12（1）：17-20］     

甲状腺功能减低症患儿线性生长的评估

目的观察分析左甲状腺素钠治疗甲状腺功能减低症(甲低)患儿的生长速率(GV)、身高年龄(HA)及骨龄(BA)变化情况,探寻HA、BA与生活年龄(CA)间的变化,揭示其线性生长规律。方法对确诊为甲状腺功能减低症的26例患儿进行随访,于治疗前及治疗过程中监测身高,计算GV、HA并拍摄X线骨龄片;同时用化学发光法检测血清三碘甲状腺原氨酸(T3)、游离三碘甲状腺原氨酸(FT3)、甲状腺素(T4)、游离甲状腺素(FT4)、促甲状腺素(TSH)、抗甲状腺过氧化酶抗体(TPOAb)及抗甲状腺球蛋白抗体(TGAb)。结果甲状腺功能减低症患儿治疗前,BA和HA明显小于CA,经左甲状腺素钠治疗后,BA和HA呈现追赶生长现象,即骨龄增加(ΔBA)和身高年龄增加(ΔHA)大于生活年龄增加(ΔCA)。治疗过程中ΔBA与ΔHA呈递减趋势,且两者保持平行,即ΔBA/ΔHA接近1。结论左甲状腺素钠对甲状腺功能减低症患儿具有明显的促线性生长作用,动态观察BA及HA对甲状腺功能减低症患儿的诊断、治疗及预后判断有重要的临床指导意义。     

新生儿先天性甲状腺功能低下症的筛查与治疗评估

目的探讨先天性甲状腺功能低下症(甲低)的筛查、治疗方法和随访及疗效评估。方法采用时间分辨荧光免疫法检测滤纸血斑中促甲状腺素(TSH)水平;对召回的可疑患儿,采用化学发光免疫法检测血清甲状腺功能,确诊后予以左甲状腺素钠治疗,正规治疗2~3年后,停药观察,结合甲状腺核素扫描或超声检查、智力测定、骨龄检测及体格检查,进行疗效评估。结果筛查新生儿557 193例,检出甲低339例,发病率1/1644。其中治疗满18个月以上221例(治疗18个月~2年34例、2~3年112例、>3年75例)。甲状腺核素扫描100例,超声检查150例(2项均检查29例):甲状腺异常48例(缺如、异位各8例,发育不良32例);正常173例。发育商>85者98.6%,平均106.5;骨龄发育正常75%,稍落后25%;身高与体质量均达正常。治疗评估:48例确诊为原发性甲低,予终身治疗;173例暂时性甲低,其中86例停药观察,可终止治疗69例,确诊为暂时性甲低;重新恢复治疗9例,确诊为亚临床甲低;继续随访8例。结论开展新生儿疾病筛查,结合安全有效的治疗和规范的随访,完全能预防智残疾病发生和保障儿童体格和智能正常发育。     

联合检测促甲状腺素及游离甲状腺素筛查新生儿先天性甲状腺功能减低症

目的初步探讨联合检测干血滤纸片中促甲状腺素(TSH)及游离甲状腺素(FT4)水平筛查新生儿先天性甲状腺功能减低症(CH)的临床意义。方法对2013年6月至2013年12月出生的活产新生儿,采用时间分辨荧光免疫分析法联合检测干血滤纸片中TSH及FT4水平;对筛查阳性者再采血检测血清TSH及FT4水平,并与干血滤纸片法结果进行比较。结果共筛查新生儿31 199例,确诊CH 12例,发生率1/2 600,高TSH血症4例,未检测到垂体性甲状腺功能减低症。筛查确诊CH新生儿的血清TSH及FT4的检测结果与干血滤纸片检测结果一致,差异无统计学意义(P0.05)。结论联合检测干血滤纸片中TSH及FT4水平可用于新生儿CH筛查,并有助于早期诊断与治疗,以及对中枢性CH的筛查。     

先天性甲状腺功能减低症筛查及治疗效果分析

目的了解先天性甲状腺功能减低症(CH)的筛查及替代治疗结果。方法回顾性分析2003年7月—2015年7月采用时间分辨荧光免疫法测定新生儿促甲状腺激素(TSH)水平筛查CH的资料;阳性召回的可疑患儿采用化学免疫发光法测定血清甲状腺功能,确诊者予左旋甲状腺素钠替代治疗并定期随访。结果 12年来共筛查新生儿1 228 289例,确诊950例,CH发病率1/1 293。接受正规治疗、随访满2年及以上的635例CH患儿中,488例(76.85%)为永久性CH,147例(23.15%)为暂时性CH。CH患儿随访至1岁和3岁时,体格生长和发育商(DQ)无异常。结论新生儿筛查可早期诊断CH,早期实施替代治疗。     

内分泌系统疾病

,,3400沈阳市断生儿先天性甲状腺功能低下筛交简报/李金矩…//中国地方病学杂志一1999,18(1)一71 993401增强化学发光的免疫法测定血漪促甲状膝激素方法的途立及初步应用/梁雁…//中华儿科杂志一1999,37(2)一111一113 该法检测人血清促甲状腺素(飞H)的灵敏度为·0.01mIU/L。59例健儿童TSH的90%正常值范围为0.74一8.53mIU/L;17例甲状腺功能亢进患儿TSH值范围为 0.02一0 .40znIU/L,无1例与正常值重蚕;16例甲状腺功能正常的弥漫性甲状腺患儿TSH值均在正常范围上限;16例甲状腺功能低下患儿的飞H值均大于30mIU/L。表2参9(张家栋) 99340…     

病理性新生儿甲状腺激素的动态观察及其临床意义

本文对７５４例年龄大于３天，小于２８天的病理新生儿进行了甲状腺激素动态观察，结果显示；（１）８０．３％患儿甲状腺激素有变化，以Ｔ３低下综合征、低甲状腺素症、原发性甲状腺功能低下和高促甲状腺素血症四种改变为主，其中Ｔ３低下综合征占了５７．８％。（２）９９．２％患儿于原发病恢复期甲状腺激素恢复正常，０．３％患者儿需服用甲状腺素治疗，表明非甲状腺疾病也可导致新生儿腺激素呈暂时性原发性甲状腺功能低下样改变     

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.