ANGIOTENSIN II RECEPTORS AND RENIN IN THE PORCINE UTERUS: MYOMETRIAL AT2 AND ENDOMETRIAL AT1 RECEPTORS ARE DOWN-REGULATED DURING GESTATION

1. The aim of the present study was to characterize the angiotensin II (AngII) receptor subtypes in the porcine uterus and the variation of receptor densities and renin concentrations during gestation. 2. In myometrium from non-pregnant sows, the AngII receptors were almost exclusively AT₂ receptors. During gestation, the AngII receptor density was decreased and the AT₁ receptor became predominant in the last part of gestation as a result of a down-regulation of the AT₂ receptor. 3. In the endometrium, the AT₁ receptor was predominant both in non-pregnant sows and throughout gestation. The AngII receptor density was decreased during gestation as a consequence of down-regulation of the AT₁ receptor. 4. The renin concentrations in the myometrium and endometrium of pregnant sows did not differ from those in non-pregnant animals. 5. The finding of enzymatically active renin and high densities of AngII receptors in the porcine uterus is in accordance with a functional renin-angiotensin system (RAS), which may be important for an increased vascular permeability and stimulated angiogenesis in early pregnancy and for contraction of the myo-metrial smooth muscle cells during parturition. The predominance of ATi receptors in the endometrium of non-pregnant sows differs from an earlier finding in non-pregnant women, where AT2 receptors were predominant in the endometrium. This is in accordance with earlier studies, indicating species differences in the expression and possibly also the physiological roles of the RAS in reproductive tissues.     

An 11 base pair duplication in exon 6 of the SMN gene produces a type I spinal muscular atrophy (SMA) phenotype: further evidence for SMN as the primary SMA-determining gene

The gene for autosomal recessive spinal muscular atrophy (SMA) has been mapped to 5q12 in a region that contains repeated markers and genes. Three cDNAs that detect deletions in SMA patients have been reported. One of these, the survival motor neuron (SMN) cDNA, is encoded by two genes (SMNT and SMNC) which are distinguished by base changes in exons 7 and 8. Exon 7 of the SMNT gene is not detectable in approximately 95% of SMA cases, due either to deletion or sequence conversion. There is limited information on the mutations in SMA patients that have detectable SMNT, these are critical for confirmation of SMNT as the SMA gene. Using SSCP analysis of the SMN exons we screened our SMA patients that possess at least one intact SMNT allele for mutations in SMNT. We identified one type I SMA patient with an 11 bp duplication in exon 6 which causes a frameshift and premature termination of the deduced SMNT protein. Dosage and SSCP analysis of SMNT in this family indicated that the father contributed a SMNT-deleted allele to the affected child whereas the mother passed on the 11 bp exon 6 duplication SMNT allele. Analysis of RNA by RT-PCR conclusively demonstrated that the 11 bp duplication is associated with the SMNT locus and not SMNC. This mutation provides strong support for SMN as the SMA-determining gene and indicates that disruption of SMNT on its own is sufficient to produce a severe type I SMA phenotype.      

支气管动脉栓塞术后并发症的预防及护理

0　引言　大咯血原因很多 .炎症、支气管扩张、肺癌、肺结核、肺动静脉瘘等 .但因支气管动脉畸形引起的大咯血尚未见专题报道 .现将我院 1992年 10月份以来行数字减影血管造影 (DSA )检查 ,确诊支气管动脉畸形行支气管动脉栓塞(BAE)治疗大咯血术后并发症的预防与护理报道如下 :1　临床资料　 6 (男 5 ,女 1)例大咯血患者 ,年龄 16～ 5 9岁 .均因无明显诱因 ,反复咯血而多次保守治疗 ,一次或 2 4h内咯血量为 40 0～ 10 0 0 m L ,病程最长 13a.入院后行 CT、纤维支气管镜、支气管碘油造影等栓查 ,均未见明显异常 ,后因保守治疗无效时行 D…     

低频电交变磁场治疗静脉炎136例疗效分析

0引富静脉炎是静脉血管常见的一种炎性病变．常由感染、组织损伤、静脉滴注化学药物刺激引起．常侵犯浅静脉,临床治疗多采用药物治疗和局部湿热敷方法「’-,疗效较差本组136例由于手术和静脉化学药物等引起静脉炎患者,我们采用磁疗机局部治疗,不用抗菌素及外用药,收?..     

Mutations in FAM20C also identified in non-lethal osteosclerotic bone dysplasia

Raine syndrome is an osteosclerotic bone dysplasia, which has proved to be lethal within the first few weeks of life in all the reported cases to date. We recently identified a chromosomal rearrangement and telomeric microdeletion in a patient with Raine syndrome and subsequently identified mutations in the FAM20C gene, located within the deleted region, in six additional Raine syndrome cases. The phenotype of Raine syndrome in the cases examined was remarkably consistent with generalized osteosclerosis of all bones, periosteal bone formation, characteristic facial phenotype and lethal within the first few weeks of life. In the current study, we have identified two unrelated individuals who presented at birth with a sclerosing bone dysplasia with features very similar to those in Raine syndrome but who survived infancy and are now aged 8 and 11 years, respectively. Mutations in FAM20C, consistent with autosomal recessive inheritance, were identified in both cases. In the first case, a homozygous non-synonymous mutation in exon 7 (1309G>A D437N) was identified, and in the second case, compound heterozygosity for non-synonymous mutations in exon 2 (731T>A I244N) and in exon 3 (796G>A G266R) was revealed. Raine syndrome has been previously considered to be a neonatal lethal condition. However, the identification of mutations in these two patients confirms a broader phenotypic spectrum and that mutation of FAM20C does not always lead to the infantile lethality previously seen as a prerequisite for Raine syndrome diagnosis.