Injection of perfluoropropane gas to prevent hypotony in eyes undergoing tube implant surgery

Hypotony after fistulizing surgery is common, and most cases resolve without complications. Occasionally, a flat anterior chamber in phakic or pseudophakic eyes may lead to corneal decompensation or cataract formation. In aphakic eyes that have undergone previous vitreous surgery, flat anterior chambers will not develop, but large choroidal detachments and delayed suprachoroidal hemorrhage may occur while the eye is soft. To maintain intraocular pressure (IOP) in the early postoperative period, the authors used a technique to seal the drainage tube with a Vicryl tie, combined with injection of sodium hyaluronate, sulfur hexafluoride (SF6), or perfluoropropane (C3F8), perioperatively in 28 eyes undergoing glaucoma tube implant surgery. Eight eyes were treated with injection of sodium hyaluronate, 8 with SF6, and 12 eyes with C3F8. Hypotony was significantly less frequent in eyes treated with C3F8 compared with sodium hyaluronate (P less than 0.05). Mean IOP was significantly higher for eyes treated with C3F8 injection compared with sodium hyaluronate for the first 4 days after surgery (P less than 0.05).     

FM sonography in diffuse liver disease: prospective assessment and blinded analysis

FM sonography - a signal-processing technique that uses frequency and phase information as well as amplitude data - shows promise in evaluation of patients with diffuse liver disease. In a prospective blinded review of 37 patients with biopsy-proved liver disease and 42 healthy volunteers, FM sonography was clearly superior to traditional amplitude-based (AM) sonography in distinguishing healthy from diseased subjects. Statistically significant differences were seen in accuracy (FM, 98.7%; AM, 84.8%), sensitivity (FM, 97.3%; AM, 70.3%), and negative predictive value (FM, 97.7%; AM, 78.8%). Our data also suggest that current FM sonographic techniques cannot differentiate among histologic findings associated with different hepatic parenchymal abnormalities. It is unclear, therefore, whether FM imaging can reduce the numbers of patients who require biopsy for diagnosis or the frequency of biopsy procedures in patients with known disease.     

用于筛选天然产物中脲酶抑制剂的脲酶活性测试方法的建立

抑制幽门螺杆菌产生的脲酶具有治疗胃炎和消化性溃疡的作用。用酚红指示剂和Ｂｅｒｔｈｅｌｏｔ试剂在９６孔培养板上检测重组脲酶活性，其灵敏度指标酚红法每ｍｇ酶蛋白引起的每分钟吸光度变化。△Ａ为６．９，而Ｂｅｒｔｈｅｌｏｔ法每ｍｇ酶蛋白引起的每分钟吸光度比值变化△Ａ为３１３。结果表明用Ｂｅｒｔｈｅｌｏｔ试剂检测重组脲酶活性适宜在９６孔培养板上大规模筛选天然产物中的脲酶抑制剂。     

Health-related quality of life and pressure ulceration assessment in patients treated in the community

Little is known of the impact of pressure ulceration on adult patients' health-related quality of life. The purpose of this study was to determine the impact pressure ulceration has on pressure ulcer patients cared for in the community. A case control study design was used by drawing a random sample from patients receiving community nursing care, stratified by the presence of pressure ulceration. In all, 75 patients with pressure ulcers were compared with 100 controls without ulcers using the four-point ulcer grading scale described by United Kingdom consensus guidelines. Patients were interviewed using the Short Form-36 (SF-36) questionnaire and activities of daily living assessed using the modified Barthel scale. Patients with pressure ulcers had significantly poorer physical function (mean difference (d) = 37.6, 95% CI 28.6-46.6, p < 0.001) and social functioning (d = 33.9, 95 % CI 24.0-43.9, p < 0.001) than published age- and sex-matched normative data from the United Kingdom. The difference between cases and controls was much smaller in these domains, with neither approaching statistical significance. After adjustment for age and gender, scores for bodily pain were poorer in patients with no ulceration (d = -10.5, 95% CI - 20.6 to - 0.4, p = 0.042) indicating greater pain in these patients compared with the cases with ulceration. Activities of daily living determined by the modified Barthel scale showed reduced self-care (d = -7.6, 95% CI -12.5 to - 2.7, p = 0.010) and mobility (d = -9.2, 95% CI -14.6 to - 3.8, p = 0.001) in patients with pressure ulceration. The overall ability to perform these activities was also significantly poorer in this group (d = -16.3, 95% CI -27.3 to -5.3, p = 0.004). While patients with pressure ulceration experience some deficits in their health-related quality of life compared with a normal population, these differences are similar to those experienced by other patients receiving community nursing care.     

Neuromuscular defects in a Drosophila survival motor neuron gene mutant

Autosomal recessive spinal muscular atrophy (SMA) is linked to mutations in the survival motor neuron (SMN) gene. The SMN protein has been implicated at several levels of mRNA biogenesis and is expressed ubiquitously. Studies in various model organisms have shown that the loss of function of the SMN gene leads to embryonic lethality. The human contains two genes encoding for SMN protein and in patients one of these is disrupted. It is thought the remaining low levels of protein produced by the second SMN gene do not suffice and result in the observed specific loss of lower motor neurons and muscle wasting. The early lethality in the animal mutants has made it difficult to understand why primarily these tissues are affected. We have isolated a Drosophila smn mutant. The fly alleles contain point mutations in smn similar to those found in SMA patients. We find that zygotic smn mutant animals show abnormal motor behavior and that smn gene activity is required in both neurons and muscle to alleviate this phenotype. Physiological experiments on the fly smn mutants show that excitatory post-synaptic currents are reduced while synaptic motor neuron boutons are disorganized, indicating defects at the neuromuscular junction. Clustering of a neurotransmitter receptor subunit in the muscle at the neuromuscular junction is severely reduced. This new Drosophila model for SMA thus proposes a functional role for SMN at the neuromuscular junction in the generation of neuromuscular defects.     

Identification of non-amplifying CYP21 genes when using PCR-based diagnosis of 21-hydroxylase deficiency in congenital adrenal hyperplasia (CAH) affected pedigrees

Steroid 21-hydroxylase deficiency is among the most common inborn errors of metabolism in man. Characterization of mutations in the 21- hydroxylase gene (CYP21) has permitted genetic diagnosis, facilitated by the polymerase chain reaction (PCR). The most common mutation is conversion of an A or C at nt656 to a G in the second intron causing aberrant splicing of mRNA. Homozygosity for nt656G is associated with profoundly deficient adrenal cortisol and aldosterone synthesis, secondary hypersecretion of adrenal androgens, and a severe form of congenital adrenal hyperplasia (CAH) characterized by ambiguous genitalia and/or sodium wasting in newborns. During the course of genetic analysis of CYP21 mutations in CAH families, we and others have noticed a number of relatives genotyped as nt656G homozygotes, yet showing no clinical signs of disease. A number of lines of evidence have led us to propose that the putative asymptomatic nt656G/G individuals are incorrectly typed due to dropout of one haplotype during PCR amplification of CYP21. For prenatal diagnosis, we recommend that microsatellite typing be used as a supplement to CYP21 genotyping in order to resolve ambiguities at nt656.