Estimates of conditional heterozygosity risks for young females in Duchenne muscular dystrophy.

Using the data from daughters of known carriers and from age-paired controls, we present a method for estimating the mean and variance of creatine kinase (CK) and pyruvate kinase (PK) in pre-menarchal and early adolescent Duchenne muscular dystrophy (DMD) carriers. CK and PK means and variances were estimated for different age ranges; it is shown that among DMD carriers the levels of both enzymes decrease linearly with age. A discriminant analysis was further performed for the estimation of biochemical risks favouring the diagnosis of heterozygosity for possible young carriers.

Effect of mazindol on growth hormone levels in patients with Duchenne muscular dystrophy.

Human growth hormone (HGH) inhibition may be beneficial in Duchenne muscular dystrophy (DMD) and slow down the rate of progression of the disease. The purposes of the present investigation were: 1) to assess, through pharmacological stimuli (L-dopa test), the HGH response in untreated DMD patients, and 2) to evaluate the inhibitory effect of mazindol on HGH levels as a potential treatment for DMD. In 55 DMD patients, HGH levels were measured through the L-dopa test, and 40 received mazindol.

Relationship between proximal cavity design and recurrent caries.

A total of 375 Class II restorations were divided into short, intermediate, and long groups according to occlusal-gingival length and its relationship to the contact area of adjacent teeth as determined radiographically. Recurrent caries at the gingival margin was studied during a 2-year period. Restorations with gingival margins ending occlusal to the contact area had a significantly higher rate of caries at all time intervals.

Relationship between Mayer-Rokitansky-Küster (MRK) anomaly and hereditary renal adysplasia (HRA).

We report the results of a study performed in a sample of women with the Mayer-Rokitansky-Küster (MRK) anomaly and in their first-degree relatives. Our results are compatible with a traditional model of multifactorial determination; however, we cannot exclude the hypothesis of autosomal dominant inheritance, with an intermediate degree of penetrance and a highly variable expressivity of a single mutant gene. In this sense, our data seem to support the idea expressed recently by Opitz [1987].

What causes the abnormal phenotype in a 49,XXXXY male?

The chromosome replication pattern of a man with 49,XXXXY was analyzed using 3H-thymidine and autoradiography as well as BrdU and acridine orange. The former technique showed a highly irregular replication pattern; the latter revealed one early replicating X chromosome, and the other three more or less asynchronously replicating. Two hypotheses seem to explain best the abnormal phenotype of males with an XXXXY sex chromosome constitution: The number of the always active regions (tip of Xp) and of the possibly always active regions (the Q-dark regions on both sides of the centromere) is increased from one to four.

The effect of water and ions on the energy band structure of periodic alpha-helical polypeptides.

The solvent structure around several periodic polypeptides in the alpha-helical conformation has been determined by Monte-Carlo simulations. The calculations of the water clusters have been performed in the presence and absence of Na+ ions. The resulting hydration shell has been used to calculate the band structure of the polymers in the effective field of the water molecules and ions.

Evaluation of carrier detection rates for Duchenne and Becker muscular dystrophies using serum creatine-kinase (CK) and pyruvate-kinase (PK) through discriminant analysis.

Serum pyruvate-kinase (PK) and creatine-kinase (CK) determinations have been carried out in a sample of 100 obligate carriers for the Duchenne muscular dystrophy (DMD) gene, 23 obligate carriers for the Becker muscular dystrophy (BMD) gene, and 50 normal adult control women. Blood samples were collected from all subjects three times on three independent occasions and the means of these three determinations were considered for both PK and CK activities in the statistical analysis. Discriminant analysis has shown that, in the group of carriers for the DMD gene, the estimated misclassification frequencies (M.

The effects of age, sex and diet on the clastogenic action of cyclophosphamide in mouse bone marrow.

7-week-old and 12-week-old mice of both sexes received either a control or protein-deficient diet for 3 weeks. Afterwards, they were given a single dose of cyclophosphamide (0.5 mg/10 g b.

Electrophysiologic pacing of vocal cord abductors in bilateral recurrent laryngeal nerve paralysis.

We have reconfirmed our previous findings that controlled, reproducible, sustained, discrete vocal cord abduction can be achieved synchronously with respiration by electrophysiologic stimulation of the paralyzed posterior cricoarytenoid muscles. Moreover, we have demonstrated that this can be triggered synchronously by employing the normal physiologic chest wall movements that occur on respiration. To our knowledge, this represents the first report of functionally paced vocal fold abduction with respiration employing physiologic chest wall motions using an implantable device, and may represent an important step in the development of a physiologic approach to bilateral recurrent laryngeal nerve paralysis.

Serum CK-MB activity in progressive muscular dystrophy: is it of nosologic value?

Serum creatine-kinase (CK) isoenzyme MB was measured in 53 patients affected by different types of myopathies (20 with Duchenne muscular dystrophy (DMD), eight with the Becker form (BMD), ten with the limb-girdle form (LGMD), six with the facioscapulohumeral form (FSH), and nine affected by polymyositis and in 21 normal control subjects). The aim of this study was to compare each group with the control individuals and to assess the nosologic value of CK-MB activity among some clinically similar dystrophies, which may have an important application for genetic counseling. A statistically significant increased CK-MB activity was found only in the Duchenne and Becker patients when compared with control persons (p less than 0.

Unusual type of brachydactyly associated with short stature and facial anomalies. A new syndrome?

We report on a 10-year-old boy with short stature, mild microcephaly, malar hypoplasia, highly arched palate, prominent upper incisors, micrognathia, and unusual digital anomalies involving the proximal phalanges of fingers 2-5 of both hands. To our knowledge, this is a hitherto undescribed syndrome.

Treatment variables in the management of endometrial cancer.

A review was made of 240 women with endometrial carcinoma who were treated at the University Hospital in Seattle, Washington, between 1961 and 1979. The most common predisposing factor was a history of exogenous hormones, elicited in 46.7%.

Brief clinical report: autosomal recessive anophthalmia with multiple congenital abnormalities--type Waardenburg.

We report two Brazilian families with children who had anophthalmia and multiple congenital abnormalities and consanguineous parents. Among the five affected children, four had bilateral and one had unilateral anophthalmia. Autosomal recessive inheritance is demonstrated.