Surgical challenge of massive bilateral staghorn renal calculi in a spinal cord injury patient.

We report a rare case of massive bilateral staghorn calculi in a spinal cord injury patient with significant renal compromise. The patient was successfully treated with percutaneous nephrolithotomy to achieve a stone-free status. The various options of treatment are discussed with special attention to the technical aspects necessary to achieve complete eradication of the stone burden during percutaneous nephrolithotomy. Furthermore, the importance of treating bladder dysfunction and urinary metabolic abnormalities is emphasized.     

Health status, community integration, and economic risk factors for mortality after spinal cord injury

OBJECTIVE: To examine the association of health, community integration, and economic status with subsequent mortality and life expectancy among persons with spinal cord injury. DESIGN: Cohort study. SETTING: Model Spinal Cord Injury Systems (MSCIS) hospitals. PARTICIPANTS: A total of 5947 persons injured since 1973 who were enrolled in the National Spinal Cord Injury Database and who were still alive and received an annual evaluation from November 1995 through March 2002. INTERVENTIONS: Not applicable. MAIN OUTCOME MEASURE: Mortality was determined by routine follow-up supplemented by information from the Social Security Death Index. A logistic regression model based on the full set of predictor variables was developed to estimate the chance of dying in any given year. RESULTS: After adjusting for demographic characteristics and injury severity, health status indicators, measures of community integration, and economic status indicators all had relatively small but statistically significant effects (20%-70% increases) on the likelihood of dying during the next year. Inclusion of these factors may result in higher life expectancy estimates under highly favorable conditions. CONCLUSIONS: Whereas previous reports of the MSCIS data have identified the life expectancies associated with a particular set of demographic (eg, age, gender) and injury-related characteristics (level and completeness of injury; ventilator dependence), the current analysis suggests that consideration of health, economic, and psychosocial factors may make computations of life expectancy more accurate.     

Genetic and histopathologic evaluation of BRCA1 and BRCA2 DNA sequence variants of unknown clinical significance

Classification of rare missense variants as neutral or disease causing is a challenge and has important implications for genetic counseling. A multifactorial likelihood model for classification of unclassified variants in BRCA1 and BRCA2 has previously been developed, which uses data on co-occurrence of the unclassified variant with pathogenic mutations in the same gene, cosegregation of the unclassified variant with affected status, and Grantham analysis of the fit between the missense substitution and the evolutionary range of variation observed at its position in the protein. We have further developed this model to take into account relevant features of BRCA1- and BRCA2-associated tumors, such as the characteristic histopathology and immunochemical profiles associated with pathogenic mutations in BRCA1, and the fact that approximately 80% of tumors from BRCA1 and BRCA2 carriers undergo inactivation of the wild-type allele by loss of heterozygosity. We examined 10 BRCA1 and 15 BRCA2 unclassified variants identified in Australian, multiple-case breast cancer families. By a combination of genetic, in silico, and histopathologic analyses, we were able to classify one BRCA1 variant as pathogenic and six BRCA1 and seven BRCA2 variants as neutral. Five of these neutral variants were also found in at least 1 of 180 healthy controls, suggesting that screening a large number of appropriate controls might be a useful adjunct to other methods for evaluation of unclassified variants.     

Influences of mood, depression history, and treatment modality on outcomes in smoking cessation

The relationship between major depressive disorder (MDD), treatment modality, and mood was evaluated in smokers participating in cessation programs. Participants (N = 549, 53.7% women, 46.3% men, 28% endorsing past MDD episodes) were randomly assigned to a cognitive-behavioral treatment (CBT) or health education (HE) intervention. Participants with a history of recurrent MDD (MDD-R) had higher rates of abstinence in CBT compared with HE even when the contribution of mood and the interaction between mood and an MDD x Treatment variable were included in the model. Likewise, higher levels of mood disturbance were reported by MDD-R smokers compared with those reporting a single episode. The study replicated results reported by R. A. Brown et al. (2001) and expanded upon them by evaluating the differential contribution of poor mood on cessation outcomes relative to MDD history.     

Survival and repair of potentially lethal radiation damage in confluent vascular smooth muscle cell cultures

Confluent cultures of rat aortic smooth muscle cells demonstrated dose-dependent potentially lethal damage repair (PLDR), with an average repair factor of 4 for a 10 Gy dose. PLDR occurred with a half-time of 2 hours and was nearly maximal by 8 h. Among other factors, PLDR may contribute to the radioresistance of large blood vessels.     

The predictive value of creatine phosphokinase and alkaline phosphatase in identification of heterotopic ossification in patients after spinal cord injury

OBJECTIVE: To determine the predictive value of serum levels of creatine phosphokinase (CPK) and alkaline phosphatase (ALP) in identifying patients with spinal cord injury (SCI) who are at risk to develop heterotopic ossification (HO) at the hips. DESIGN: Prospective cohort study. SETTING: Tertiary-care level I trauma center. PARTICIPANTS: Consecutive sample of 18 adults with acute traumatic SCI. Patients were excluded if they had medical or surgical conditions that are known to cause elevated enzyme levels. INTERVENTIONS: Not applicable. MAIN OUTCOME MEASURES: Conventional hip radiographs were taken approximately 3 weeks after injury and again from between 3 to 6 months after injury. Serum ALP and CPK were measured approximately 3 weeks after SCI. Patients were later separated into 2 groups: group 1 was comprised of those who developed HO and group 2 was comprised of those who did not. RESULTS: The initial radiographs showed no evidence of HO in either group. The radiographs taken at 3 to 6 months showed HO in 7 of 18 patients. The levels of CPK at the initial evaluation were significantly higher (R=.947, P<.0024) in group 1 than in group 2 and correlated with the severity of HO. There was no correlation between serum ALP levels and subsequent development of HO between the 2 groups (P=.07). CONCLUSION: Elevated serum levels of CPK have value in predicting the HO.     

Shared genetic susceptibility to breast cancer, brain tumors, and Fanconi anemia

Fanconi anemia is an inherited disease characterized by bone marrow failure, congenital malformations, and predisposition to cancer. The breast cancer susceptibility gene BRCA2 was recently found to be associated with Fanconi anemia complementation group D1 (FA-D1). We examined four kindreds afflicted with Fanconi anemia for the presence of germline BRCA2 mutations. One kindred, of Ashkenazi Jewish ancestry, had five members who were diagnosed with breast cancer and two cousins who were BRCA2*6174delT/C3069X compound heterozygotes and had Fanconi anemia and brain tumors. In another kindred of Ashkenazi Jewish and Lithuanian Catholic ancestry, a child with Fanconi anemia and a medulloblastoma was a BRCA2*6174delT/886delGT compound heterozygote. Two other kindreds each contained a Fanconi anemia-afflicted child who developed medulloblastoma; one child was of Latin American ancestry and a compound heterozygote for BRCA2*I2490T/ 5301insA and the other was African American and a compound heterozygote for BRCA2*Q3066X/E1308X. Median age of the Fanconi anemia-afflicted children at brain tumor diagnosis was 3.5 years. The co-occurrence of brain tumors, Fanconi anemia, and breast cancer observed in one of these kindreds constitutes a new syndromic association. Individuals who carry a germline BRCA2 mutation and who plan to have children with a partner of Ashkenazi Jewish descent should consider undergoing genetic counseling.     

Novel anticonvulsants in the treatment of alcoholism

There have been many recent developments in the pharmacological management of alcohol withdrawal and alcohol dependence. Although previous treatments had included benzodiazepines as their mainstay, the use of these agents in the alcoholic population is problematic. Benzodiazepines are themselves addictive and they may increase the risk of alcohol relapse. Non-benzodiazepine anticonvulsants such as carbamazepine, valproic acid, gabapentin, vigabatrin and topiramate have been shown to be excellent treatments of both alcohol withdrawal and the prevention of alcohol relapse. Although none of these agents have yet been approved by the FDA, there is growing evidence in the literature to support their use.     

Reproductive issues for women with spina bifida

BACKGROUND/OBJECTIVES: Few studies have adequately examined the unique issues of women with spina bifida as they enter their reproductive years. Most studies are anecdotal, retrospective case studies that contribute little to our understanding of the physiological effects of the disability on the reproductive system and, conversely, the effects of the reproductive endocrine changes on the woman's disability. The purpose of this article was to review previously published reports on the reproductive issues facing female adolescents and women and to ascertain the current knowledge so that future research needs can be established. METHODS: Multiple MEDLINE searches were performed for publications from 1957 through the present pertaining to females/women with spina bifida and/or disabilities. Papers were then chosen if information was provided on menarche, menstruation and sexual maturation, gynecologic issues, sexual function, birth control, pregnancy outcomes, and menopause. These were then reviewed and classified according to the level of evidence (as defined by Ball et al). RESULTS: More than 150 titles and abstracts were reviewed for inclusion. Of these, 75 papers met the guidelines for the subject content. Studies were stratified by level of evidence and included 1 study at level 3, 71 studies at level 4, and 3 studies at level 5. CONCLUSION: Little research has examined the reproductive issues of women with spina bifida and women with other neurologic disabilities. Future controlled prospective research studies are needed to examine issues related to puberty and sexual and gynecologic issues throughout the life span and pregnancy in these populations.     

Naltrexone combined with either cognitive behavioral or motivational enhancement therapy for alcohol dependence

Although naltrexone has been shown to be effective in the treatment of alcohol dependence, less is known about its efficacy when combined with different behavioral therapies. Previous work has suggested that naltrexone works best when combined with weekly cognitive behavioral therapy (CBT). This study examined the efficacy of naltrexone when combined with CBT or a motivational enhancement therapy involving less patient contact. Outpatient alcoholics (N = 160) were randomly assigned to either naltrexone (50 mg/d) or placebo and either CBT (12 sessions) or motivational enhancement therapy (4 sessions), in a 4-cell design, and treated over a 12-week period. Subjects were evaluated periodically for alcohol consumption, craving, and biologic markers of drinking (carbohydrate-deficient transferrin and gamma-glutamyltransferase). There was high retention and adherence to therapy and medication in the trial with no significant difference across the treatment groups. Naltrexone, independent of therapy assignment, increased the time to first relapse. However, the CBT-naltrexone group did better than the other groups on a variety of outcome measures. Fewer CBT-naltrexone-treated subjects relapsed, and those that did had both fewer, and more time between, subsequent relapses.This randomized controlled trial is consistent with previous reports about the utility of combining naltrexone with CBT. Despite being more efficient to administer, the combination of motivational enhancement therapy and naltrexone is less effective than CBT and naltrexone. Because CBT and naltrexone share common mechanisms of action, such as craving reduction and relapse prevention, these therapies are likely to be well suited to use in combination.