'Pathognomonic' muscle imaging findings in DNAJB6 mutated LGMD1D.

BACKGROUND AND PURPOSE: We have previously reported clinical, genetic and molecular pathomechanistic findings in DNAJB6 mutated LGMD1D. After publishing clinical findings of the original Finnish family we identified more Finnish, Italian and US families with the same disease, ultimately confirmed by mutations in the same gene. METHODS: Of the total number of 28 examined Finnish and Italian patients 23 underwent lower limb muscle imaging. RESULTS: At the early stages of the disease fatty degeneration in T1-weighed MRI sequences were observed in the soleus, adductor magnus, semimembranosus and biceps femoris muscles followed by medial gastrocnemius, adductor longus and later by vasti muscles of the quadriceps. Rectus femoris, lateral gastrocnemius, sartorius, gracilis and the anterolateral group of the lower leg muscles were spared until late senecence. The pattern of differential involvement could be identified at different stages of the disease process. CONCLUSIONS: Since the general clinical findings do not provide clues for diagnosis this distinct pattern of muscle involvement and pathognomonic imaging findings are highly relevant in the clinical setting. The pattern of muscle involvement is so typical that it can be used as a differential diagnostic tool for LGMD1D. The final diagnosis however requires molecular genetic confirmation.

An intronic polymorphic deletion in the PTEN gene: implications for molecular diagnostic testing.

BACKGROUND: A cohort of 629 patients with suspected Bannayan-Riley-Ruvalcaba syndrome or Cowden syndrome was tested for mutations in the PTEN gene. METHODS: Dosage analysis of PTEN was carried out using a PTEN-specific multiplex ligation-dependent probe amplification (MLPA) kit, whereas point mutation analysis was performed using direct sequencing. RESULTS: Approximately 4% of the patients from the testing cohort were heterozygously deleted for the two MLPA probe-binding sites situated in intron 1. The same deletion was subsequently seen in ∼3% of 220 normal controls, and in patients from the testing cohort with a causative mutation elsewhere in the PTEN gene. Sequencing of the variant revealed an 899 bp deletion, the 3' breakpoint of which is only 58 bp from the start of exon 2. CONCLUSION: Although all evidence suggests that the 899 bp deletion is a polymorphism with no clinical effect, it removes the binding sites of almost all published PTEN exon 2 forward primers, resulting in allelic loss during PCR.

Preferences and practices among renters regarding smoking restrictions in apartment buildings.

OBJECTIVE: This study assessed renters' preferences for official smoking policies in their buildings and their practices concerning restricting tobacco smoking in their apartments. DESIGN: Renters (n = 301) living in large apartment complexes in a suburb of Minneapolis, Minnesota, completed a mail survey. MAIN OUTCOME MEASURES: The survey asked about the official smoking policies in place in their apartment buildings, their preferences for policies, whether they had smelled tobacco smoke coming into their apartments from without, and, if so, what they had done about it. RESULTS: The majority of non-smokers (79%) preferred that their building be smoke-free. When asked to identify the current smoking policy in their buildings, residents disagreed substantially. Most renters (60%) reported smoke-free policies in their own apartments and another significant proportion (23%) restricted smoking to certain areas or occasions or persons. 75% thought that enforcing a smoke-free policy for guests would not be difficult. 53% of those in non-smoking households had smelled tobacco smoke in their apartments; most of these reported being bothered by it. However, very few complained to the building owner or manager (15.5%) or to the smoker (6.9%). CONCLUSIONS: The majority of non-smokers preferred that their buildings be smoke-free. A failure to report problems to apartment managers might be an impediment to instituting smoke-free policies in apartment buildings. The considerable disagreement among residents within apartment complexes about the current official smoking policy in their buildings suggests that policies are lacking or are not well communicated.

The distributional effects of changing the averaging period and minimum benefit provisions.

This study evaluates the effects of changing the averaging period used to calculate Social Security benefits from 35 years to 38 or 40 years and the introduction of a minimum benefit provision for future retirees born during the early part of the baby boom generation. Proposals to change the averaging period have been recommended by a majority of the 1994-96 Advisory Council on Social Security. Based on the Survey of Income and Program Participation (SIPP) matched to Social Security Administration earnings records, the study projects retirement benefits for different subgroups of the population under existing and proposed benefit rules. The magnitudes of the retirees' benefit changes vary by demographic group. The minimum benefit provision substantially mitigates the effects of the change to a 40-year averaging period for some groups of women.

Using data for couples to project the distributional effects of changes in Social Security policy.

Under Social Security program rules, the aged receive Social Security benefits either as retired workers, spouses, divorced spouses, or widow(er)s. Retired-worker benefits are paid to workers who have 40 quarters of coverage over their lives. Auxiliary benefits are paid to spouses, divorced spouses, and widow(er)s of retired workers. Spouse benefits are computed using the earnings history of the current spouse for individuals who are married when they apply for benefits. Divorced spouse and widow(er) benefits are computed using the earnings history of the ex-spouse or deceased spouse with the highest PIA. A large number of retired women are entitled to auxiliary benefits. Some women receive only auxiliary benefits, while the majority of women have their retired-worker benefit supplemented by auxiliary benefits. Because the level of Social Security benefits can reflect the relative lifetime earnings of both spouses, as a couple, using individual data to estimate Social Security benefits will tend to underestimate actual benefits, particularly for women. However, detailed data for couples are often difficult to obtain. There is currently no known single data source that includes both marital and earnings history information. As a result, many researchers resort to estimating Social Security benefits using individual data or aggregate data, such as the average earnings of men and women. The Social Security Administration's Office of Research, Evaluation, and Statistics, with substantial assistance from the Brookings Institution, the Urban Institute, and the RAND Corporation, is developing a model that overcomes this problem by using the marital and earnings histories of both marital partners to estimate Social Security benefits. The Modeling Income in the Near Term (MINT) model projects retirement income (Social Security benefits, pension income, asset income, and earnings of working beneficiaries) from 1997 through 2031 for current and future Social Security beneficiaries using a unique data source--the Survey of Income and Program Participation (SIPP)--matched to Social Security Administration records. Using MINT data, this article establishes the importance of using data for couples rather than individuals by examining the impact of changing Social Security benefits to reflect 40 years of lifetime earnings rather than the 35 years required under current law. We compare the effect of this policy change on married women by estimating their benefits with data for couples and with individual data. Results indicate that: Using individual data overestimates the projected reduction in retirement benefits brought about by the policy change and makes the effects on women look more severe than they actually are. Because older birth cohorts are more likely than younger cohorts to receive auxiliary benefits based on their husbands' average lifetime earnings, the bias created by using individual data is projected to be much larger for older cohorts than for younger cohorts. This article emphasizes the importance of using data for couples to estimate Social Security benefits, particularly for women. Although our focus is on married women, using data for couples is just as important for calculating the retirement benefits of divorced and widowed individuals. For individuals who are divorced or widowed at retirement, their Social Security benefits are based on their own earnings history, as well as the earnings histories of each of their previous spouses.

Cost-neutral policies to increase Social Security benefits for widows: a simulation for 1992.

Among older women, widows are more likely to live in poverty than married women. Thus, increasing Social Security benefits to widows seems desirable. Shifting some Social Security benefits from the period when women live as part of a couple to the period when they are widows could reduce poverty. This article uses the 1991 Survey of Income and Program Participation exactly matched to the Social Security Administration's record of benefits to evaluate the effect on poverty rates of four cost-neutral proposals that transfer Social Security benefits from married couples to surviving widows. The policies would moderately decrease poverty rates among older women by reducing the rate for widows more than the slight increase in the rate for couples. The evaluated proposals include a proposal supported by the majority of the 1994-96 Advisory Council on Social Security that would calculate the survivor's benefit as 75 percent of the couple's benefit, reduce the spouse's benefit from 50 to 33 percent of the husband's benefit, and reduce benefits by 1.5 percent.

Projecting Social Security earnings: past is prologue.

Accurate projections of lifetime earnings are useful in projecting Social Security benefits, trust fund balances, and economic resources of the elderly and the effects of changes in Social Security policy. This article projects lifetime Social Security earnings until retirement using data from the Survey of Income and Program Participation (SIPP) matched to Social Security records of annual earnings from 1951 through 1993. We first develop, estimate, and test gender-specific multiple regression models of 10-year earnings intervals using the matched 1984 SIPP panel. We find strong relationships predicting the mean indexed monthly earnings level in the 10-year period of 1984-93. We then use the models to project (unobserved) Social Security earnings from 1994 through retirement for persons born between 1931 and 1955. By adding projected earnings to observed annual earnings to date, we forecast lifetime Social Security earnings for persons retiring early in the 21st century.

Deeming rules and the increase in the number of children with disabilities receiving SSI: evaluating the effects of a regulatory change.

This article examines a source of the growth in the SSI children's program: a relatively minor and little-noticed change in the financial eligibility rules. The way parental earnings were counted as income, or "deemed" to children (to use SSA language) was changed. The new, more generous financial eligibility rules added a small but significant number of recipients to the rolls after 1992 and also increased the benefit amounts for many of those already receiving SSI. Using SSA administrative data and a simulation technique, this article estimates how much the deeming policy change contributed to the expansion of the rolls and the cost of the program. We estimate that program costs of the deeming rule change were approximately $63 million annually in 1993 dollars. The change led to a 2-percent increase in the number of children on the rolls.

Caregiving and women's Social Security benefits: a comment on Kingson and O'Grady-LeShane.

This article re-examines the effects of caregiving on women's Social Security benefits using the New Beneficiary Survey. Total (husband and wife) Social Security benefits to the family, rather than only the women's own benefits, is the appropriate measure for married couples. We find family benefits and family income to be invariant to the number of children. The reduction in own retirement benefits associated with married women's raising children is made up by higher benefits received by their husbands and higher spouse benefits. Furthermore, adjusting Social Security benefits for caregiving dropout years is not an efficient means to improve the economic well-being of poor elderly women.

Changing Social Security benefits to reflect child-care years: a policy proposal whose time has passed?

This article estimates the effects of proposals to increase the retirement benefits of women who reduce their earnings to care for young children. Using the 1990 Survey of Income and Program Participation file--exactly matched to the Social Security Administration's record of lifetime earnings--the authors present the distribution of child-care dropout years by retirement cohort and other demographic characteristics, and estimate the dollar impact of adjustments for caregiving years. The policies examined do increase the retirement benefits of some women, but the increases on average are small, are lowered with each successive retirement cohort, and benefit women from the more privileged socioeconomic groups. Thus, because the policy effects are small and will diminish in the future, the time of efficacy for the proposals has passed. Subsidizing child-care dropout years does not seem to be a well-targeted policy.

[Intermittent self-catheterization in multiple sclerosis]. / Hoitotyöllä elämän laatua toistokatetrointi hyvinvoinnin osatekijänä.

Intermittent self-catheterization was taught to 70 patients with multiple sclerosis (MS) between 1.9.1989 and 31.1.1992 in Masku Neurological Rehabilitation Centre. All of them were interviewed in April 1992. Altogether 62 (89%) returned the questionnaires. The aims of the study were 1) to define the compliance of the patients to the treatment, and 2) to assess the effect of the catheterization on the quality of life of the patients. The conceptual framework used for the study was self care concept. Bladder symptoms had been present for seven years (mean) and the average time after the diagnosis of MS was ten years. Twenty eight (28) patients discontinued the treatment after having catheterized for 11 months in average. The main reason (50%) for discontinuation was normalization of the bladder function. The patients reported reduction in urgency symptoms, incontinence of urine and difficulties in emptying the bladder. All these changes were statistically significant. The number of urinary infections was slightly increased (not reaching statistical significance). However, the infections caused less subjective discomfort during the treatment than before it. The urinary symptoms interfered with the personal activities of the patients in a variety of ways. As many as 79% of the respondents reported that their quality of life was improved by the intermittent self-catheterization. The treatment allowed the patients to resume their personal, social -- and in some cases occupational--activities of daily living. Significant improvement was reported in f.e. family life, marital relationships, sexual life and the quality of night sleep.

A critical study of amino acid incorporation into protein by isolated liver mitochondria from adult rats.

1. Mitochondria were isolated from rat liver in a way that kept bacterial contamination at a minimum. 2. The activity of oxidative phosphorylation was unchanged under these conditions, whereas the ability of the preparations to incorporate amino acids into protein was insignificant, though it could be enhanced somewhat by the presence of EDTA. This enhancement was sensitive to ribonuclease. 3. The active time of incorporation did not exceed 15min. at 30 degrees . 4. Microsomal contamination, as measured by glucose 6-phosphatase activity, was about 5%. 5. The ability of isolated bacteria to incorporate amino acids into protein was greatly enhanced by the addition of mitochondria or heat-inactivated mitochondria. 6. A correlation was found between the growth rate of bacteria and the amino acid-incorporating activity. 7. Amino acid incorporation by combined mitochondrial-bacterial systems was inhibited by 2,4-dinitrophenol. 8. The results confirm and extend the earlier findings made in our Laboratory that isolated liver mitochondria, when free from contaminating bacteria and obtained from adult rats, are not able to catalyse the incorporation of amino acids into protein at a measurable rate. 9. The results are discussed with special emphasis on the validity of these findings.