Facing facial weakness: psychosocial outcomes of facial weakness and reduced facial function in facioscapulohumeral muscular dystrophy.

PURPOSE: To assess the psychosocial outcomes of facial weakness in facioscapulohumeral muscular dystrophy (FSHD). MATERIALS AND METHODS: A cross-sectional survey study. The severity of facial weakness was assessed by patients (self-reported degree of facial weakness) and by physicians (part I FSHD clinical score). Questionnaires on facial function, psychosocial well-being, functioning, pain, and fatigue were completed. Regression analyses were performed to explain variance in psychosocial outcomes by demographic and disease variables. RESULTS: One hundred and thirty-eight patients participated. They reported mild to moderate psychological distress, no to mild fear of negative evaluation, and moderate to good social functioning. However, patients with severe self-reported facial weakness scored lower in social functioning. Patients with more facial dysfunction experienced more fear of negative evaluation and lower social functioning. Furthermore, younger age, presence of pain, fatigue, walking difficulty, and current or previous psychological support were associated with lower psychosocial outcomes. Overall, patients report moderate to good psychosocial functioning in this study. The factors contributing to lower psychosocial functioning are diverse. CONCLUSIONS: A multidisciplinary, personalized approach, focusing on coping with physical, emotional, and social consequences of FSHD is supposed to be helpful. Further research is needed to assess the psychosocial outcomes of facial weakness in younger patients.Implications for rehabilitationResearch on the psychosocial consequences of facial weakness in facioscapulohumeral muscular dystrophy (FSHD) is limited.Patients with FSHD experience mild to moderate psychosocial distress, partly due to overall disease severity, such as reduced mobility, and partly due to facial weakness and reduced facial function.Self-reported degree of facial weakness and facial dysfunction were related to lower psychosocial outcomes (social functioning, fear of negative evaluation, and psychological distress).Physician-reported degree of facial weakness was not related to psychosocial outcomes, suggesting an absence of a strong correlation between observed facial weakness and experienced disease burden in this study.This calls for a multidisciplinary, personalized approach with a focus on coping with physical, emotional, and social consequences of FSHD.

Fatty acids enhanced tubermycin production by Pseudomonas strain 2HS.

A new microbial isolate, Pseudomonas 2HS, produced trace amounts of a greenish-yellow pigment when grown aerobically in a 1% yeast extract medium at 30 degrees C and shaken at 250 rpm for 5 days. In contrast, cells produced more greenish-yellow pigment (2.16 mg/15 ml culture) when grown in the presence of 0.5% 12-hydroxyoctadecanoic acid (w/v). The greenish-yellow pigment was identified as phenazine-1-carboxylic acid (tubermycin B), and the Pseudomonas 2HS was identified as P. aeruginosa 2HS. This is the first report that 12-hydroxyoctadecanoic, ricinoleic and other fatty acids can enhance the production of phenazine-1-carboxylic acid by a Pseudomonas species.

Production of 10-ketostearic acid and 10-hydroxystearic acid by strains of Sphingobacterium thalpophilum isolated from composted manure.

Six strains of Sphingobacterium thalpophilum were isolated from a compost mixture enriched with oleic acid. These strains converted oleic acid to 10-ketostearic acid (10-KSA; 87-94% of the total conversion product) and to 10-hydroxystearic acid (10-HSA; 6-13%) exhibiting three levels of total product yields. The predominant production of 10-KSA by these new S. thalpophilum isolates is in contrast to strain 142b (NRRL B-14797) previously isolated from a commercial compost, which produces exclusively 10-HSA. The production yield of greater than 75% 10-KSA was achieved in 36 h, acting on 0.26 g of oleic acid in 30-ml fermentation broth incubated with agitation at 28 degrees C. For easy maintenance, fast-growth, and high bioreactivity, these S. thalpophilum strains are suited for developing a large-scale production of 10-KSA and 10-HSA.

Glucose and zinc concentration influence fusarin C synthesis, ethanol synthesis and lipid composition in Fusarium moniliforme submerged cultures.

A fusarin C-producing Fusarium moniliforme strain was grown in submerged culture with defined media containing differing amounts of glucose (30 g/l or 90 g/l) and zinc (5 ppb or 3200 ppb). The influence of zinc on fusarin C synthesis and lipid composition was dependent on the initial glucose concentration. In cultures supplied with 30 g/l glucose, zinc inhibited fusarin C and lipid synthesis by diverting common substrates to ethanol synthesis. Zinc-supplemented cultures with 90 g/l glucose had ample carbon substrate to produce both ethanol and fusarin C. More total lipid with a higher unsaturated fatty acid content (more oleic acid and less stearic acid) was found in F. moniliforme biomass produced in zinc-deficient media.

Oxidation of oleic and elaidic acids in rat and human heart homogenates.

Parallel incubations with uniformly 14C-labeled oleic and elaidic acids were conducted to compare oxidation rates in tissue homogenates prepared from rat and human hearts. Radioactivity in 14CO2 and 14C-labeled chain-shortened acid-soluble products was used to measure the extent of oxidation. Oxidation rates (pmol/min per mg heart protein) determined on 14C-labeled acid-soluble products suggest that oleic acid was oxidized 35-40% faster than elaidic acid by both male and female rat heart homogenates, whereas human heart homogenates oxidized these fatty acids at equal rates. Rates for female heart homogenates were somewhat higher than those for males in rats and humans. Rates of formation of 14CO2 were the same for each acid in rat and human heart tissue. Comparative rates of formation of oxidation products expressed as oleic/elaidic ratios from parallel incubations confirm that preferential oxidation of oleic acid occurred with rat heart homogenates, but not with the human heart homogenates. These data suggest that the presence of the trans double bond in elaidic acid does not impair its utilization for energy by human heart muscle.

Selective deposition of trans-8- and cis-9-octadecenoates in egg and tissue lipids of the laying hen.

The disposition of trans-8-octadecenoate-8(9)-3H (8t-18:1-3H) was compared to cis-9-octadecenoate-10-14C (9c-18:.1-14C) in the major egg yolk neutral lipids and in organ lipids from the laying hen. trans-8-Octadecenoate was preferentially incorporated into only the phosphatidylethanolamines (PE), whereas discrimination against 8t-18:1-3H occurred in the phosphatidylcholines (PC), triglycerides (TG) and cholesteryl esters (CE). The a-acyl position of both PE and PC from the 2-acyl position of these phospholipids was found. Preferential incorporation of 9c-18:1-14C occurred at the combined 1- and 3-acyl positions and at the 2-acyl position of yolk TG. Tissue lipid analyses indicated that there was preferential deposition of 9c-18:1-14C into all organs. Individual liver lipid classes displayed the same relative order of discrimination against 8t-18:1-3H as did egg yolk lipids (CE greater than TG greater than PC greater than PE).

Competitive deposition of trans-12 and cis-9-octadecenoates into egg yolk lipids.

The deposition of trans-12-octadencenoate-12(13)-3H (12t-18:1-3H) was compared to cis-9-octadecenoate-10-14C (9c-18:1-14C) in the major egg yolk neutral lipids and phospholipids trans-12-Octadecenoate was preferentially incorporated into cholesteryl esters (CE), phosphatidylcholines (PC), and phosphatidylethanolamines (PE) but was discriminated against in triglycerides (TG). Isotopic ratios indicate that 5.9 and 5.6 times more 12t-18:1-3H than 9c-18:1-14C was esterified at the 1-acyl position of PE and PC, respectively. The combined 1- and 3-acyl positions of TG and the 2-acyl position of TG, PE and PC were each preferentially esterified with 9c-18:1-14C.

Evaluation of an enzyme-immuno-assay for the determination of total serum estrogens in pregnancy.

We have evaluated a new diagnostic kit for the determination of total estrogens in serum or plasma of pregnant women by means of an enzyme-immuno-assay. Within-run precision had a coefficient of variation of 4.7-4.9% for total estrogen concentrations of 400 to 2000 nmol/l. For the same range of concentrations, day-to-day precision was found to be 5.9-8.9%. Mean analytic recovery of unconjugated estriol was 102%. Enzymatic hydrolysis of different estrogen conjugates was shown to be virtually complete. The antiserum used in the assay has the same affinity for estrone, estradiol and estriol. Preliminary clinical studies included 14 pregnant women. The results suggest that the determination of total estrogens in pregnancy plasma can be used to monitor fetoplacental function in much the same way as urine total estrogens are used.

Evaluation of a new diagnostic kit for the enzymatic determination of creatinine.

We have evaluated a new diagnostic kit for the enzymatic determination of creatinine in serum, plasma and urine. The method was found to be linear up to 1000 mumol/l. Within-run precision had a coefficient of variation of 3.1--5.6% for normal to slightly elevated values and of 2.3--3.3% for values of about 320 mumol/l. Day-to-day precision was found to be 7.8 and 5.7% for values of 94 and 141 mumol/l, respectively. Mean analytic recovery was 98%. Bilirubin and hemoglobin did not interfere in concentrations up to 490 and 240 mumol/l, respectively. The influence of lipids was studied. Correlation studies were done with two other methods, the Technicon SMA 12/60 method and the Dutch standard manual method.

Metabolism of linoleate versus linoelaidate in the laying hen.

The metabolic fate in the laying hen of linolaidic acid, the trans,trans-geometric isomer of linoleic acid, was compared to that of the naturally occurring cis,cis linoleate. In two experiments, mixtures of radioisotope-labeled linoleate and linoelaidate were orally administered to a set of three laying hens. A third mixture consisting of linoleate-3H and linoleate-14C was fed to three hens to measure biological isotope effects. Isotopic ratios (3H/14C) of the neutral lipid and phospholipid fractions isolated from egg yolks and of the octadecadienoic acids from these fractions were compared to those of the administered mixtures. The 3H/14C ratios indicate that linoelaidic acid and linoleic acid are equally incorporated into egg yolk neutral lipids and phospholipids. Arachidonic acid was found exclusively in the phospholipid fraction and was radiolabeled with the isotope from the cis,cis octadecadienoate isomer only. Further detailed analysis of individual neutral lipid components indicated: (a) discrimination against the trans,trans isomer in cholesteryl esters and (b) no discrimination against either isomer in triacylglycerols.