先天性二叶主动脉瓣畸形27例临床分析

27例住院治疗的先天性二叶主动脉瓣(CBAV)临床分析,结果显示:合并心功能不全21例(78%),合并感染性心内膜炎(IE)12例(44%),与其它心血管畸形并存7例(26%).IE为CBAV的主要死亡原因.本文认为,并发IE或存在明显血流动力学障碍时外科换瓣术为CBAV治疗的根本措施,结果还提示,CBAV一旦心功能失代偿发展迅速,准确掌握外科治疗指征及尽早手术至关重要.     

Early replacement therapy in a first Japanese case with autosomal recessive guanosine triphosphate cyclohydrolase I deficiency with a novel point mutation

Autosomal recessive guanosine triphosphate cyclohydrolase I (GTPCH) deficiency is an inborn error of tetrahydrobiopterin (BH4) synthesis from GTP. GTPCH deficiency causes severe reduction of BH4, resulting in hyperphenylalaninemia (HPA) and decreased dopamine and serotonin synthesis. Without treatment, a patient with GTPCH deficiency develops complex neurological dysfunctions, including dystonia and developmental delays. The first Japanese patient with GTPCH deficiency was discovered by HPA during asymptomatic newborn screening. The phenylalanine level at the age of 5 days was 1273 μmol/L (cutoff value, 180.0 μmol/L). The high serum phenylalanine level was decreased to normal after adequate BH4 oral supplementation. Serum and urinary pteridine examination revealed very low levels of neopterin and biopterin. Sequence analysis of GCH1 revealed compound heterozygous point mutations, including a novel point mutation (p.R235W). Replacement therapy with BH4 and L-dopa/carbidopa were started at the age of 1 month, and 5-hydroxytryptophan (5-HTP) was started at the age of 5 months. At 10 months of age, the patient showed slight dystonia but no obvious developmental delay. Cerebrospinal fluid should be examined to determine the appropriate dosage of supplement drugs. In conclusion, it is important to control the serum phenylalanine level and perform early replacement of neurotransmitters to prevent neurological dysfunction.     

The use of polyurethane materials in the surgery of the spine: a review

Background contextThe spine contains intervertebral discs and the interspinous and longitudinal ligaments. These structures are elastomeric or viscoelastic in their mechanical properties and serve to allow and control the movement of the bony elements of the spine. The use of metallic or hard polymeric devices to replace the intervertebral discs and the creation of fusion masses to replace discs and/or vertebral bodies changes the load transfer characteristics of the spine and the range of motion of segments of the spine.PurposeThe purpose of the study was to survey the literature, regulatory information available on the Web, and industry-reported device development found on the Web to ascertain the usage and outcomes of the use of polyurethane polymers in the design and clinical use of devices for spine surgery.Study design/settingA systematic review of the available information from all sources concerning the subject materials' usage in spinal devices was conducted.MethodsA search of the peer-reviewed literature combining spinal surgery with polyurethane or specific types and trade names of medical polyurethanes was performed. Additionally, information available on the Food and Drug Administration Web site and for corporate Web sites was reviewed in an attempt to identify pertinent information.ResultsThe review captured devices that are in testing or have entered clinical practice that use elastomeric polyurethane polymers as disc replacements, dynamic stabilization of spinal movement, or motion limitation to relieve nerve root compression and pain and as complete a listing as possible of such devices that have been designed or tested but appear to no longer be pursued. This review summarizes the available information about the uses to which polyurethanes have been tested or are being used in spinal surgery.ConclusionsThe use of polyurethanes in medicine has expanded as modifications to the stability of the polymers in the physiological environment have been improved. The potential for the use of elastomeric materials to more closely match the mechanical properties of the structures being replaced and to maintain motion between spinal segments appears to hold promise. The published results from the use of the devices that are discussed show early success with these applications of elastomeric materials.     

Total intravenous anesthesia for aortic aneurysm replacement surgery in a patient with limb-girdle dystrophy

We report the anesthetic management with total intravenous anesthesia of a 61-year-old male diagnosed with limb-girdle muscular dystrophy admitted for replacement of ascending aorta due to an aortic aneurysm. Limb-girdle muscular dystrophy belongs to a genetically heterogeneous group of muscular dystrophies involving shoulder and hip girdles. Although the risk of malignant hyperthermia does not seem to be increased in these patients compared with the general population, the exposure to inhaled anesthetics and succinylcholine should probably be avoided because these patients have a predisposition to hyperkalemia and rhabdomyolysis. We chose to use total intravenous anesthesia with propofol, remifentanil and muscle relaxants to reduce oxygen consumption, and later to reduce the doses of propofol and remifentanil. The combination of a carefully planned anesthetic strategy, anesthetic depth, and neuromuscular blockade monitoring is explained.     

Comparison of patient reported outcomes after Triathlon? and Kinemax Plus prostheses

INTRODUCTION

The Triathlon^® (Stryker, Kalamazoo, MI, US) total knee replacement was designed to improve patient function and survivorship. The aim of this study was to determine whether the Triathlon^® prosthesis produces better patient reported outcomes than a previous design by the same manufacturer, the Kinemax Plus.

METHODS

The outcome of 233 knees of patients with a mean age of 68 years (range: 40–80 years) who received the Kinemax Plus prosthesis were compared with the outcomes of 220 knees of patients with a mean age of 70 years (range: 42–90 years) who received the Triathlon^® prosthesis. Data were collected via postal questionnaire prior to surgery as well as at 8–12 weeks and at 1 year following surgery. Validated questionnaires were used including the WOMAC^® (Western Ontario and McMaster Universities) pain and function scales, the Knee injury and Osteoarthritis Outcome Score quality of life scale and the self-administered patient satisfaction scale.

RESULTS

This study found that patients who had the Triathlon^® prosthesis had significantly better pain relief (p<0.0001), function (p=0.028), knee related quality of life (p<0.0001) and satisfaction (p=0.0003) at three months after surgery than those who received the Kinemax Plus prosthesis. In addition, knee related quality of life (p=0.002) and satisfaction (p=0.021) were significantly higher at one year after surgery in Triathlon^® patients.

CONCLUSIONS

The findings suggest that return to function and reduction in pain may occur more quickly in patients with a Triathlon^® prosthesis than in those with the Kinemax Plus.