Keratin 13基因在喉癌发生中的作用

探讨keratin 13基因在喉癌发生中的作用。方法在keratin 13基因内部及附近选择5个微卫星引物进行LOH分析，于DNA水平间接检测100例喉癌患者中该基因的缺失情况。结果5个STR位点均存在LOH，其中D17S1964E、D17S2092、D17S791、D17S1665及D17S808位点的LOH频率分别为30．48％、26．02％、21．62％、37．66%和21．51％，以D17S1665位点的LOH频率最高，杂合性丢失与临床分期无显著相关。结论Keratin13基因在喉癌的发生中具有重要作用，具体机制有待进一步研究。     

Novel C59T leader peptide mutation in the MPZ gene associated with late-onset, axonal, sensorimotor polyneuropathy

The objective of this study was to report a novel exon-1 mutation in the myelin protein zero (MPZ) gene, resulting in axonal Charcot–Marie–Tooth neuropathy with recurrent hyper-CK-emia. In a 64-year-old woman slowly progressive distal lower limb weakness, muscle cramps in the lower limb muscles, and stocking-type numbness had developed from the age of 61. Neurologic examination revealed discrete hip flexor weakness, weakness for foot extension, diffuse wasting of the distal lower limb muscles, reduced patella tendon reflexes, and absent Achilles tendon reflexes. There was recurrently elevated creatine kinase with a maximum of 607 U/l ( n , <145 U/l). Stimulation of the peroneal and tibial nerves did not evoke a muscular response. Electromyography was neurogenic. Biopsy of the right sural nerve showed diffuse axonal degeneration and loss of axons of all diameters. Muscle biopsy showed increased fiber-size variability, angulated fibers, internalized nuclei, accumulations of nuclei, grouped atrophic muscle fibers, and fiber splitting. Molecular genetic analysis by PCR and direct nucleotide sequencing revealed the heterozygous C59T exon-1 MPZ gene mutation, resulting in the amino acid exchange S20F of the MPZ signal protein domain (leader peptide). The novel C59T mutation in the leader peptide of the MPZ gene is pathogenic and manifests as severe, late-onset, axonal, symmetric sensorimotor polyneuropathy (CMT2) and hyper-CK-emia.     

Clinical correlates of changes in self-perceived oral health in older adults

Abstract Although numerous investigators have reported on self-perceived oral health status in adult and older adult populations, few have examined how these perceptions change over time. This paper uses data from a longitudinal oral health survey of community-dwelling Canadians aged 50 years and over to explore this issue. Data were collected at baseline and after 3 years. Change was assessed using a global transition judgement and change scores on four subjective oral health status indicators. These indicators addressed chewing capacity, oral and facial pain symptoms, other oral symptoms, and the psychosocial impact of oral disorders. Overall, 23.0% reported that their oral health had worsened over this period, 66.5% that it had remained the same and 10.5% that it had improved. Change scores on the four indicators showed a similar pattern and were significantly associated with these global judgements. Over the same period, substantial proportions lost one or more teeth, acquired new coronal or root DPS increments or experienced loss of periodontal attachment. An additional 17% complained of dry mouth. However, the only clinical indicator associated with changing perceptions of oral health was tooth loss. Of interest was the fact that rates of tooth loss were equally high among those who reported a worsening of oral health and those who reported an improvement. This suggests that the impact of tooth loss on health status may be positive or negative depending upon the condition of the teeth lost.     

Interaction of Heparin With Antiphospholipid Antibodies (APA) From the Sera of Women With Recurrent Pregnancy Loss (RPL)

PROBLEM: To determine if heparin may act directly with antiphospholipid antibodies (APA) to prevent recurrent pregnancy loss (RPL). METHOD: Patients were seen at the University of Texas Southwestern Medical Center. Twenty women with a history of RPL (≥3 miscarriages), positive APA, and an otherwise normal evaluation were treated with heparin in two daily subcutaneous dosages during a successful pregnancy. APA levels were obtained prior to conception and again at 6, 20, and 30 weeks. RESULTS: Heparin reduced APA binding to cardiolipin and phosphatidylserine in a dose-dependent fashion in ELISA. Heparin affinity chromatography absorbed over 80% of the IgG anticardiolipin antibody in serum from women with high levels of APA. Women treated with increasing dosages of heparin during pregnancy had inversely decreasing levels of IgG anticardiolipin antibody. CONCLUSION: Heparin may act by directly binding APA in vivo, thereby decreasing the adverse effects of APA in women with APA associated RPL.     

Event-related potential correlates of functional hearing loss: Reduced P3 amplitude with preserved Nl and N2 components in a unilateral case

Abstract A female patient exhibiting functional hearing loss in her left ear demonstrated reduced amplitude of P3 component in event-related potentials (ERP) to left monaural stimulation, with preserved N1 and N2 components to stimulation of either ear. This result suggested that stimuli in the affected ear were conducted successfully up to the auditory cortex but that further processing in higher brain regions was 'repressed'. Event-related potential examination for such hysterical disorders could be useful in clarifying their brain mechanism and offer a useful diagnostic clue to its nature.     

Diabetes mellitus and hearing loss

A prospective hearing survey was performed in a sample of 102 diabetic patients. The hearing data were compared with the hearing thresholds of three control population groups. A significant difference was found in the average hearing thresholds between the diabetic patients and all of the three control populations. Diabetic patients have worse hearing threshold levels especially at low and mid frequencies (P < 0.001). There was also a correlation between the duration of diabetes and hearing loss. No significant correlation was found between the different stages of diabetic retinopathy and the degree of hearing loss.     

Super-reactivity to amphetamine toxicity induced by schedule of reinforcement

The chronic exposure of rats to a schedule of operant water reinforcement coupled with chronically restricted access to water sensitized the animals to intermittentd-amphetamine injections (0.31–2.5 mg/kg with intervals of 12–23 days between any two injections) in such a way that this drug came to produce catastrophic losses of body weight (32.4% of control levels). In the sessions whend-amphetamine was administered, the rats were also given a total of 12 brief electric shocks. Loss of body weight was unaccompanied by parallel changes in operant behavior performance, or in food or water intake. Remarkably, in other studies with the same interventions (sham schedule sessions, water deprivation, and foot shocks), with the exception that reinforcers were never delivered,d-amphetamine did not produce catastrophic falls in body weight. This super-reactivity tod-amphetamine toxicity may be mediated by a possible stressor action of the schedule of reinforcement. Its mechanism might be analogous to the known sensitization produced by classical experimental stressor stimuli to the repeated administration ofd-amphetamine.     

Terminal transverse limb defects and early chorionic villus sampling: Evaluation of 4,300 cases with completed follow-up

Data from 4,300 consecutive cases following prenatal diagnosis by transcervical (TC) CVS (n = (1,570) and transabdominal (TA) CVS (n = 2,370) were evaluated. In the follow-up study only infants examined by a physician were included. Gestational age varied between 8.5 and 11.6 weeks (mean 10.3 weeks) for TC-CVS and between 9.3 and 20 weeks (mean 12.3 weeks) for TA-CVS 98% of TC-CVS was performed at 9–10 weeks, 80.7% of TA-CVS procedures were carried out at 12–15 weeks. Selective termination took place in 97 cases of TC-CVS (6.1%) and in 72 cases of TA-CVS (2.6%). Another 8 Women had a termination for psychosocial reasons, resulting in 4,123 (1,469 TC, 2,645 TA) continuing pregnancies. The overall fetal loss rare <28 weeks was 5.4% (n = 80) for TC-CVS and 2.6% (n = 70) for TA-CVS. The overall incidence of congenital abnormalities after birth was 0.9%. Two terminal transversal limb defects were detected in the TC-CVS group (0.14%) against one (0.04%) in the TA-CVS group. © 1993 Wiley-Liss, Inc.     

Outcome Following Bariatric Surgery in Super versus Morbidly Obese Patients: Does Weight Matter?

Background: Numerous investigators have attempted to identify prognostic indicators for successful outcome following bariatric surgery. The purpose of this study was to determine whether degree of obesity affects outcome in super obese [>225% ideal body weight (IBW)] versus morbidly obese patients (160-225% IBW) undergoing gastric restrictive/bypass procedures. Methods: Since 1984, 157 patients underwent either gastric bypass or vertical banded gastroplasty. Super obese (78) and morbidly obese (79) patients were followed prospectively, documenting outcome and complications. Results: Super obese patients reached maximum weight loss 3 years following bariatric surgery, exhibiting a decrease in body mass index (BMI) from 61 to 39 kg/m² and an average loss of 42% excess body weight (EBW). Morbidly obese patients had a decrease in BMI from 44 to 31 kg/m² and carried 39% EBW at 1 year. After their respective nadirs, each group began to regain the lost weight with the super obese exhibiting a current BMI of 45 kg/m² (61% EBW) versus 34 kg/m² (52% EBW) in the morbidly obese at 72 months cumulative follow-up. Currently, loss of 50% or more of EBW occurred in 53% of super obese patients versus 72% of morbidly obese (P < 0.01). Twenty-six percent of super obese patients returned to within 50% of ideal body weight (IBW) while 71% of morbidly obese were able to reach this goal (P < 0.01). Co-morbidities and complications related to surgery were similar in each group. Conclusions: Super obese patients have a greater absolute weight loss after bariatric surgery than do morbidly obese patients. Using commonly utilized measures of success based on weight, morbidly obese patients tend to have better outcomes following bariatric surgery.     

Clarke's column in sporadic amyotrophic lateral sclerosis

Summary Histological, ultrastructural and morphometrical observations on Clarke's column were carried out in 18 patients with sporadic amyotrophic lateral sclerosis (ALS) and 15 age-matched control subjects. Of the 18 ALS patients 6 had been on a respirator before death. Bunina bodies were found in the neuronal cytoplasm in 7 of the 12 non-respirator-supported ALS patients and in 3 of the 6 respirator-supported patients. The number of spheroids was significantly higher in the non-respirator-supported patients (P<0.01) than in the control subjects; however, the number in the respirator-supported patients was about equal to that in the controls. The number of neurons in Clarke's column in the non-respirator-supported ALS patients was not reduced, but in the respirator-supported patients they tended to disappear with time after respiratory support. These findings suggest that Clarke's column neurons are also involved primarily in the disease process in sporadic ALS. However, they may begin to disappear only after the patients require respiratory support.Supported in part by a research grant for CNS degenerative diseases from the Ministry of Health and Welfare, Japan