Carnitine deficiency associated with ornithine transcarbamylase deficiency

An infant with X-linked recessive ornithine transcarbamylase deficiency is described who also had severe deficiency of plasma and liver carnitine during normoammonemic periods. Treatment with L-carnitine (100 mg/kg/day) for 12 months decreased the frequency of hospitalizations for hyperammonemia, although it did not alter his neurologic status. This report demonstrates that persistent carnitine deficiency may be present in patients with ornithine transcarbamylase deficiency even when plasma ammonia is normal. Carnitine evaluation and supplementation may be important in the treatment of patients with this metabolic disorder.     

7-甲氧基-4′-羟基-3′-二乙胺甲基异黄酮(MHDF)对大鼠血流动力学和主动脉的作用

本实验观察了MHDF对整体大鼠血流动力学和离体大鼠胸主动脉的作用。结果表明iv MHDF(3～12.8 mg/kg)能降低大鼠左心室±dp/dt_max,V_max,V_pm和LVSP,延长T-dp/dt_max,减慢心率。MHDF还能舒张大鼠胸主动脉,ED₅₀为6.5×10^-6mol/L;非竞争拮抗NA和CaCl₂致主脉收缩,pD₂′为3.11±0.21和3.73±0.07;抑制高K⁺致主动脉收缩,IC₅₀为1.76×10^-5mol/L。提示MHDF对血管的作用与α受体阻断剂不同,而可能与钙拮抗有关。     

HYPOTHERMIA AND SEVERE TRAUMA

During the period from May 1992 until April 1993, 108 patients were admitted to Liverpool Hospital with Injury Severity Scores (ISS) > 15. Temperatures had been recorded in 100. Of these, 17 had a core temperature of less than 35°C documented within 24 h of arrival. The hypothermic group presented with more severe injuries and contained a disproportionate number of females. Hypothermia was found to be more common in the winter months, but it was not associated with a delay in reaching hospital from the time of injury. When injuries were ranked by ISS, both hypothermic and normothermic patients were equally likely to have received a blood transfusion; however, the mean number of units of packed cells transfused was greater for the hypothermic group with ISS < 41 than for the similarly injured normothermic group. Two patients in the hypothermic group had sustained bums, and both of these were hypothennic on arrival. All of the hypothermic patients who required surgery developed hypothermia in the operating theatre.     

Developing policy in the provision of parenting programmes: integrating a review of reviews with the perspectives of both parents and professionals

Background   Parenting programmes are a key component of the delivery of children's services, but evidence-based policy has often proved difficult to implement.
Methods   The present review addressed this issue by integrating a review of systematic reviews of parenting programmes and a series of focus groups with parents and professionals involved in parenting across three agencies in a regional area (health, education and social work). The review summarizes parenting interventions targeting infant mental health, emotional and behavioural difficulties, autism spectrum disorder and attention deficit hyperactivity disorder, abuse/neglect, alcohol/substance abuse and 'vulnerable' parents. The focus groups discussed topics such as the range of parenting services across the three agencies, accessibility, gaps in the service and future directions.
Results and conclusions   Twenty systematic reviews were summarized. These reviews demonstrated that there is a wide range of parenting programmes available that have the potential to benefit families who are affected by problems ranging from emotional and behavioural difficulties to adolescent substance abuse. However, the findings of the focus groups reveal that the success of these programmes will depend in part on how they can be tailored to meet the social context of the families targeted. These integrated findings are discussed in terms of their implications for policy and practice.     

Identification and order of sequential mutations in beta-actin genes isolated from increasingly tumorigenic human fibroblast strains.

We have sequenced the mutant beta-actin gene of a tumorigenic human fibroblast cell line (HuT-14T) and found that it carries three mutations that alter the amino acids at positions 36, 83, and 244 as well as a 22-base-pair "insertion" sequence, in the 5' intron, not present in a wild-type gene. The less tumorigenic cell line HuT-14, a progenitor of HuT-14T, has the same codon-244 mutation and the insertion sequence but not the other two mutations. A nontumorigenic cell line that is related to HuT-14 but that has no beta-actin mutations does carry the intron-length polymorphism. We conclude that the mutation at codon 244 occurred first in a beta-actin allele already bearing the 22-base-pair intron insert and that mutations at codons 36 and 83 arose subsequently during the selection for the HuT-14T phenotype. Rat-2 cells synthesize the appropriate charge-variant species of mutant actin protein when transfected with either the singly or the triply mutated beta-actin gene.     

Beckman EL-ISE电解质分析仪准确性及故障的分析判断

0 引言为了克服离子选择电极（ISE）法的微量电位信号极易受环境温度变化及电子噪声的干扰问题,该仪器采用了参考电极,把参考电极与其测定电极装在同一测量室内,保持其相同的物理环境,使干扰源对所有电极的影响相同. 以内参液作为参考电极的测量对象,测得一个参考电极电位值,再测样品的电极电位值,二者相抵就消除了所叠加的干扰信号.     

心脏直视手术围术期自体血回输335例的监护

0　引言　自体输血是采集患者体内血或回收自体失血,再输回同一患者,献血者与受血者为同一个体,既可以节约临床用血,减少患者费用,更重要是可以避免或减少同种输血传播感染性疾病.我科对335例体外循环心内直视手术患者实行自体血回输,收到较好的社会效益和经济效益.1　临床资料　1998-09/1999-02,我科心脏直视手术共445例,围术期采用自体输血335例,其中先心病226例,瓣膜手术59例,复杂心内畸形37例,冠心病、大血管13例,占同期体外循环心内直视手术75%.患者主要适应证:心脏及大血管外科手术,术前一般情况尚好,无肝、肾、呼吸功能障碍;术前检查…     

Regional myocardial motion and thickening assessed at rest by ECG-gated99mTc-MIBI emission tomography and by magnetic resonance imaging

We have validated ECG-gated emission tomography using technetium-99m methoxyisobutylisonitrile for the assessment of regional ventricular function by comparing it with cine magnetic resonance imaging (MRI). Gated tomography was performed at rest in 24 patients referred for myocardial perfusion imaging [17 males and seven females with a mean age of 58 years, nine of whom had had a previous myocardial infarction (MI)]. Scores were assigned to each of nine myocardial segments for wall motion and for thickening. Cine MRI was analysed in an identical fashion. Four out of 216 (2%) segments were uninterpretable by gated tomography because of inadequate tracer uptake. In eight patients without coronary artery disease (CAD), wall motion and thickening were normal by both methods. Gated tomography showed abnormal wall motion or thickening in all patients with previous MI and in five of seven patients with CAD but no prior MI. Association between wall motion and thickening was good (r _s=0.86). Overall, there was good agreement between gated tomography and MRI for both wall motion (178/212 segments, =0.66) and wall thickening (184/212 segments, =0.69). In segments with severely reduced perfusion, however, there was poorer agreement (=0.31). Interobserver and intraobserver agreement was high ( from 0.61 to 0.78). Thus, in patients investigated for CAD, there is good overall agreement between gated tomography and MRI but the agreement is lower in segments with severe perfusion defects.