Analysis of the epsilon-sarcoglycan gene in familial and sporadic myoclonus-dystonia: evidence for genetic heterogeneity.

The epsilon-sarcoglycan gene (SGCE) on human chromosome 7q21 has been reported to be a major locus for inherited myoclonus-dystonia. Linkage to the SGCE locus has been detected in the majority of families tested, and mutations in the coding region have been found recently in families with autosomal dominant myoclonus-dystonia. To evaluate the relevance of SGCE in myoclonus-dystonia, we sequenced the entire coding region of the epsilon-sarcoglycan gene in 16 patients with either sporadic or familial myoclonus-dystonia. No mutations were found. This study suggests that epsilon-sarcoglycan does not play an important role in sporadic myoclonus-dystonia and supports genetic heterogeneity in familial cases.     

Investigation of aneuploidy induction in mouse oocytes following exposure to vinblastine-sulfate,pyrimethamine, diethylstilbestrol diphosphate,or chloral hydrate

The various causative and mechanistic phenomena associated with aneuploidy induction require considerable investigation to better understand the etiology of chromosome missegregation. We investigated the potential of vinblastine sulfate, pyrimethamine, diethylstilbestrol diphosphate, and chloral hydrate to induce numerical and structural chromosome changes in female mouse germ cells. Superovulated ICR mice were administered the compounds either by intraperitoneal injection or oral gavage, and oocytes were collected and processed for cytogenetic analysis 17 hr later. Vinblastine sulfate, administered i.p., induced a significant increase in the frequency of ovulated Ml oocytes and of hyperploid Mll oocytes compared to controls, but did not increase the frequency of structural aberrations. Pyrimethamine, diethylstilbestrol diphosphate, and chloral hydrate did not increase the frequency of numerical or structural chromosome changes in female mouse germ cells. © 1993 Wiley-Liss, Inc.     

Iatrogenic Impairment of Hearing During Surgery for Acoustic Neuroma

Isolated or combined labyrinthine, neural, and vascular damage account for failure to preserve hearing during removal of acoustic neuromas. However, the specific mechanisms of auditory impairment remain unclear unless surgical maneuvers can be related to peri- and postoperative hearing on the basis of intraoperative monitoring of auditory function.

Among the different auditory monitoring techniques, recording of cochlear nerve action potentials (CNAPs) from the intracranial portion of the nerve has proven particularly useful for identifying the mechanisms of iatrogenic auditory injury.

The present investigation analyzes intra- and postoperative auditory impairment in relation to surgical steps in a group of 38 subjects with acoustic neuroma (size ranging from 5 to 24 mm) undergoing removal via a retrosigmoid approach.

Coagulation close to the cochlear nerve, drilling of the internal auditory canal, and removal of the intrameatal portion of the acoustic neuroma have prove to be the most critical surgical steps in hearing preservation.

Changes were correlated with intra- and extrameatal tumor size, the relationship between the internal auditory canal and vestibule, and internal auditory canal enlargement, anatomic involvement of the cochlear nerve, preoperative auditory level, and ABR and ENG test findings.

Changes in CNAP morphology and latency are detailed, and mechanisms of injury are analyzed and discussed as a function of these variables.

     

Ultrasound-determined fetal subcutaneous tissue thickness for a birthweight prediction model

AIM: The aim of this study was to explore a birthweight prediction model using ultrasound determined tissue thickness (SCTT) parameters. METHODS: We measured routine ultrasonographic biometric parameters and in addition, fetal SCTT in 201 healthy singleton pregnancies. Mid-arm fat and lean mass, mid-thigh fat and lean mass, subscapular fat mass and abdominal fat mass (AFM) were measured in order to calculate a birthweight prediction model. Ultrasound measurements were analyzed using an 'anovarepeated measures model'. The growth rate (beta-slope) of the selected parameters was computed and the correlation coefficient with the birthweight and the Kendall rank correlation tau, were calculated. RESULTS: From the ultrasound determined SCTT parameters, only abdominal circumference (AC), AFM, and MTLM showed a statistically significant trend. The beta-slope of mid-thigh lean mass was excluded since it exhibited significant correlation with the beta-slope of AFM. The final regression model could be calculated as: birthweight (gr.) = intercept +alpha(1)(AFM beta-slope) + alpha(2)(AC beta-slope), where alpha(1), alpha(2) represent regression coefficients. CONCLUSIONS: We provide a graphical birthweight prediction model for clinical practice using conventional and specific ultrasound measurements of fetal subcutaneous tissue thickness. This model is based upon an overall analysis of the ultrasound estimated body components.     

The risk of pneumonectomy over the age of 70. A case-control study.

OBJECTIVE: A higher mortality has been reported after pneumonectomy over the age of 70. The aim of the study was to quantify the additional risk due to age after standard pneumonectomy for lung cancer by a case-control study. METHODS: Our clinical database was reviewed to search for patients aged 70 years or more who underwent standard pneumonectomy for lung cancer between 1998 and 2005. A control group of patients younger than 70 (one case/two controls) was matched for sex, cardiovascular disease, American Association of Anaesthetists score, respiratory function, side of pneumonectomy, induction chemotherapy and stage. Overall mortality and morbidity were compared. Long-term survival data were also analysed. RESULTS: During the considered period, 35 patients aged 70 years or more underwent pneumonectomy (30 males, median age 73 years, 15 right-sided procedures). The control group was composed of 70 patients. The two groups were homogeneous in the variables used for matching. Overall mortality and morbidity were 11.4 and 54.2% in the elderly group as compared to 4.3 and 41.6% in controls (p-value not significant). Elderly patients experienced a higher rate of respiratory complications (25.7%) as compared to controls (8.3%, p=0.01). At univariate analysis, the only risk factor for death was the occurrence of respiratory complications (OR 6.5, CI 1.8-18.2). At multivariate analysis, age >or=70 years (OR 5.36, CI 1.48-19.3) and preoperative chemotherapy (OR 7.65, CI 2.04-28.6) were confirmed as predictors of respiratory complications. Five-year survival was 17.5% in the elderly group and 53.6% in the control group (p=0.003). Elderly patients with a better respiratory function (FEV1>70%) had a 5-year survival of 45.4%. CONCLUSIONS: In the elderly patients, the risk of respiratory complications after pneumonectomy is increased as compared to younger patients with equivalent respiratory function. Age and preoperative chemotherapy are independent risk factors for respiratory complications. A lower mortality and a better long-term survival are obtained in elderly patients with a better respiratory function (FEV1>or=70%).     

Minimum effective anesthetic concentration (MEAC) for sciatic nerve block: subgluteus and popliteal approaches

BACKGROUND: We tested the hypothesis that using a subgluteus approach to the sciatic nerve requires a lower concentration of mepivacaine to obtain complete anesthesia as compared with the popliteal approach. METHODS: With midazolam premedication (0.05 mg kg(-1) iv), 48 patients undergoing hallux valgus repair were randomly allocated to receive a sciatic nerve block using either a posterior popliteal (group Popliteal, n = 24) or subgluteus (group Subgluteus, n = 24) approach with 30 mL of local anesthetic injected after elicitation of plantar flexion of the foot with a current 相似文献   

A New Harvest Site for Bone Graft in Anterior Cruciate Ligament Revision Surgery

During revision anterior cruciate ligament (ACL) surgery, femoral interference screws frequently require removal. This may lead to significant tunnel widening and possible graft fixation failure as a result. Solutions include drilling the revision tunnel in a different location, using stacked interference screws, or using bone graft to fill the defect. Autogenous iliac crest graft and allograft are both used, but there are significant comorbidities associated with each. We developed a new technique for harvesting autogenous bone graft that avoids many of the complications associated with other graft sources. By use of the existing surgical incision from the initial harvest of the bone–patellar tendon–bone autograft, bone from the medial tibial metaphyseal safe zone is harvested via an OATS tube harvester (Arthrex, Naples, FL). A bone plug 1 mm larger in size than the femoral defect is harvested and arthroscopically inserted via a press-fit technique. At 3 months after bone grafting, patients undergo revision ACL reconstruction. The proximal tibial metaphysis is a safe bone graft harvest site in revision ACL surgery and offers an effective method for filling large bony defects, allowing anatomic reconstruction of the ACL after bone healing has occurred. Furthermore, it eliminates the problems associated with allograft or use of a remote graft donor site.     

Homocysteine-Lowering Therapy and Early Progression of Transplant Vasculopathy: A Prospective, Randomized, IVUS-Based Study

Although observational studies suggest that hyperhomocysteinemia may be a risk factor for coronary allograft vasculopathy (CAV), prospective data on homocysteine-lowering interventions and CAV development are lacking. We, therefore, randomized 44 de novo heart transplant (HT) recipients to 15 mg/day of 5-methyl-tetrahydrofolate (n=22), or standard therapy (control group, n=22) to investigate the effect of homocysteine lowering on the change in coronary intimal hyperplasia during the first 12 months after transplant, as detected by intra-vascular ultrasound (IVUS). Although 12 months after HT, homocysteinemia was lower in folate-treated patients (p<0.001), coronary intimal area increased similarly in the two groups (p>0.4). Conversely, hypercholesterolemia and cytomegalovirus infection were both associated with increased intimal hyperplasia (p<0.04), independently from folate intake. Sub-group analysis revealed that folate therapy reduced intimal hyperplasia in patients with hyperhomocysteinemia before randomization (n=19; p=0.02), but increased intimal hyperplasia in patients with normal homocysteine plasma concentrations (p=0.02). This bimodal effect of folate therapy persisted significantly after adjusting for cytomegalovirus infection and hypercholesterolemia. Despite effective in prevent hyperhomocysteinemia after heart transplantation, folate therapy does not seem to affect early CAV onset. However, sub-group analysis suggests that folate therapy may delay CAV development only in patients with baseline hyperhomocysteinemia, while may favor CAV progression in recipients with normal baseline homocysteinemia.