Familiärer mangel und α 1

Zusammenfassung Es wird über zwei Kinder aus zwei Familien mit Mangel an ₁ berichtet. Homozygote Defektträger wiesen etwa 15–25%, heterozygote 50–75% des mittleren normalen Serumspiegels auf. Unter 100 Blutspendern fanden sich 5 mit erniedrigten ₁ wie bei heterozygoten Defektträgern.Klinische Auswirkungen des Gendefektes waren im Kindesalter nicht zu erkennen, insbesondere keine Enthemmung der Fibrinolyse.

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₁ deficiency in two families

Two children from two different families with ₁ deficiency are described. Deficient subjects had 15–25% of normal serum ₁ levels in case of homozygosity and 50–75% in case of heterozygosity. Among one hundred healthy blood donors five had serum ₁ levels below 150 mg% corresponding to the levels found in heterozygous deficiency carriers.In the two children described the gene defect had no clinical consequence; fibrinolysis, in particular was not increased.

     

甘肃省9县市重点人群碘缺乏病健康教育现状调查

目的：了解甘肃9县、市重点人群（小学生、育龄妇女）对碘缺乏病相关知识的掌握情况和相应的行为，以制定高效，有针对性的防治措施，方法：对甘肃省9县、市的999名小学三、四、五年级学生及1005名育龄妇女开展问卷调查。结果：学生对缺碘致智力损伤，缺碘致甲状腺肿，碘盐是碘缺乏病主要预防措施的知晓率分别为27．5％、59．7％、70．3％，育龄妇女分别为33．3％、53．6％、59．0％，学生碘缺乏病知识来源于教师，电视，医生、父母的比率为52．8％，34．3％，27．9％，21．1％，育龄妇女的碘缺乏病知识来源于村医、电视、宣传单，亲戚朋友的比率分别是44．8％、31．2％、26．0％、22．5％。有70．0％左右的学生和育龄妇女不知道缺碘能够造成智力损伤，40．0％的育龄妇女不知道食用碘盐是主要的预防措施。结论：重点人群碘缺乏病健康教育的核心信息知晓率低，学校－学生－家庭链及村医－育龄妇女链是最有效的碘缺乏病健康健康信息传播途径。     

Bidirectional Regulatory Effect of Lishen Injection(丽参注射液)on Sex Hormones in Senile Female Patients Coronary Heart Discase of kidney deficiency Type

Ｂｉｄｉｒｅｃｔｉｏｎａｌ　Ｒｅｇｕｌａｔｏｒｙ　Ｅｆｆｅｃｔ　ｏｆ　Ｌｉｓｈｅｎ　Ｉｎｊｅｃｔｉｏｎ（丽参注射液）ｏｎ　Ｓｅｘ　Ｈｏｒｍｏｎｅｓ　ｉｎ　Ｓｅｎｉｌｅ　Ｆｅｍａｌｅ　Ｐａｔｉｅｎｔｓ　ｗｉｔｈ　Ｃｏｒｏｎａｒｙ　Ｈｅａｒｔ　Ｄｉｓｅａ...     

Composition of apatites in human urinary calculi

Summary Calcium-deficient carbonate apatites in urinary calculi from 17 patients have been studied. Magnesium ions in each case were detected as a component of apatite. In most of the cases, CO ₃ ²⁻ ions were included in the apatitic lattice. Using a calcination procedure, we have determined the most probable average value for the CO ₃ ²⁻ content, degree of deficiency, x, and the Mg/Ca ratio in each sample.     

Ringchromosom Nr. 18 und fehlendes Ig A bei einem 6jährigen Mädchen (46,XX,18r)

Zusammenfassung Es wird ein 6jähriges Mädchen mit angeborenen Fehlbildungen, geistiger Retardierung und Fehlen von Immunglobulin A beschrieben, das die Chromosomenaberration 46,XX,18r aufweist.Die klinischen Merkmale der in der Literatur ermittelten 22 Patienten mit Ringchromosom 18 werden mit Merkmalen von Patienten verglichen, die Defizienzen am langen oder kurzen Arm des Chromosoms Nr. 18 zeigen.

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Ring-chromosome 18 and Ig A deficiency in a 6 year old girl

A 6 year old girl with mental retardation, congenital malformations, deficiency of Ig A and the chromosomal aberration 46,XX,18r is described. The clinical findings of patients with structural aberrations of chromosome 18 described in the literature are reported.

Mit Unterstützung durch die Deutsche Forschungsgemeinschaft AZ Mu 258/3     

Carnitine-acylcarnitine translocase deficiency: case report and review of the literature

Aim : Carnitine-acylcarnitine translocase (CACT) deficiency is an inborn error of metabolism involving the mitochondrial beta-oxidation of long-chain fatty acids. The aim of this study was to report on a new case (neonatal phenotype) and review the literature data on 24 previously reported cases. Methods : Clinical data of the new case are described and compared with the previous reports. Results : The patient with a novel mutation had clinical features and biochemical findings similar to those of the other reported patients.

Conclusion : CACT is an entity in which clinical encephalopathy, hepatomegaly and arrythmias are common. Hyperammonaemia and elevation of creatine kinase seem to be constant findings as in other disorders of mitochondrial beta-oxidation of long-chain fatty acids. The mortality rate is very high.     

急性肾炎的中医病机及传变规律初探

目的旨在探讨急性肾炎的中医病机及传变规律。方法以中医基础理论及中医四大经典著作文献为依据,结合急性肾炎的发病特点和临床症状,深入讨论了急性肾炎的中医发病、病机和演变及传变规律。结论得出了“肾的气化失常是急性肾炎的主要病机”,而“肾气实”和“肾阴虚”则又是导致肾的气化失常的主要原因。     

慢性充血性心力衰竭心气虚证与心阴不足证患者sEDF含量变化的临床意义

目的：观察慢性充血性心力衰竭中心气（血）虚证和心阴不足证患者血清内源性洋地黄因子含量的变化,探讨其临床意义。方法：以放免法测定正常人与慢性充血性心动力衰竭患者中心气（血）虚组与心阴不足组内源性洋地黄因子的含量。结果：心气（血）虚患者内源性洋地黄因子含量比心阴不足型显著下降（P＜0．01）。结论：内源性洋地黄因子分泌减少可能是导致中医心气（血）不足的主要原因之一,而心阴不足证患者内源性洋地黄因子含量比心气（血）虚证患者降低程度小,提示在中西医结合治疗中对前类患者使用洋地黄药物效果可能更好,而对后类患者应谨慎使用洋地黄类药物。