Reference values for height, height velocity and weight in Turner's Syndrome

As Northern Europeans are currently the tallest people in the world, specific growth charts for girls with Turner's Syndrome from this area are needed. Based on height and weight measurements from 598 girls with Turner's Syndrome (372 from the Netherlands, 108 from Denmark, 118 from Sweden) not treated with growth-promoting substances and without signs of spontaneous puberty, we constructed growth charts for height-for-age, height-velocity-for-age, weight-for-age, weight-for-height and Body Mass Index for age. Reference tables and regression equations for mean and standard deviation are provided allowing calculation of Standard Deviation Scores. The height and height velocity curves show a low birth length, gradual deviation from the normal percentile curves without pubertal growth spurt, and a prolonged growth until the early 20s. Mean adult height was 146. 9 ± 7. 8 cm. Mean weight-for-age was lower than in normal reference children but height-adjusted weight was higher, except in infancy and early childhood. Further studies are required on the factors influencing the weight-height relationship in Turner's Syndrome.     

Temporomandibular joint clicking with nonreducing anterior displacement of the meniscus

Patients who have temporomandibular joint (TMJ) clicking and pain are assumed to have an anterior displacement of the meniscus with reduction on opening of the jaw. On the basis of this assumption, these patients are treated nonsurgically with splint therapy. Of 301 TMJs examined, 108 (36%) produced clinically audible clicks on opening, closing, or both. Fluoroscopy and arthrotomography studies for 16 (15%) showed anteriorly displaced menisci without reduction. The mean age of this group was 32 years, with a range of 17-51 years. The duration of the patients' symptoms ranged from three months to eight years (mean 3.7 years). Bilateral degenerative joint disease was noted in 8/16 (50%). Operative findings in four patients suggested the cause of the clicking sound as a frictional impact between the degenerated surface of the condyle and the hypertrophied displaced meniscus. These observations demonstrate that an audible click may not imply a reduction of a displaced meniscus.     

Assay of prekallikrein in human plasma: comparison of amidolytic, esterolytic, coagulation, and immunochemical assays

Using the substrate H-D-Pro-Phe-Arg-p-nitroanilide-HCl, an amidolytic assay was designed to measure prekallikrein in plasma. At a substrate concentration of 1 mM (Km = 0.2 mM), the amidolysis of purified kallikrein at 1 coagulant unit/ml was observed to be 2.47 mumole/min/ml. Conditions for plasma prekallikrein activation were optimized to approach complete activation when compared to the amidolytic activity of the purified plasma kallikrein. Plasma treated with chloroform to destroy inhibitors of kallikrein was activated with dilute kaolin (final concentration 1 mg/ml) for 1 min at 25 degrees C. Activated plasma prekallikrein had 78% (1.92 mumole/min/ml) of activity of purified kallikrein at plasma concentration. Comparison of this amidolytic assay with immunochemical, esterolytic, and coagulant assays of three subject populations (normals, women on birth control pills, and patients with hepatocellular disease) showed good correlation both in normals and in the patient groups between the amidolytic and esterolytic assays (r = 0.89). Each enzymatic assay correlated with the immunochemical assay (r = 0.72, r = 0.68, respectively). However, comparison of each of these assays with the coagulant assay showed no significant correlation due to the large inherent error of the latter assay. This standardized plasma prekallikrein amidolytic assay should facilitate studies of plasma prekallikrein concentration in physiologic and pathologic conditions and help identify activation of the contact phase of coagulation in disease states.     

Single-base substitutions give rise to a five-banded DNA profile at the D10S28 locus

Background : DNA profiles from variable number of tandem repeat (VNTR) loci typically are composed of two bands, one derived from each member of the homologous pair of chromosomes. DNA profiles composed of more than two bands result from mutations, and the uestion arises as to the mechanism underlying these unusual multibanded DNA profiles. Study Design and Methods : An alleged father in a paternity test was found to have a five-banded DNA profile at the D10S28 locus when his DNA was subjected to single-locus restriction fragment length polymorphism mapping with the restriction enzyme Pvu II. Results : Several results suggest that this complex DNA profile is the result of several single change within the VNTR locus First, there was no evidence of partial digestion of the DNA with Pvu II. Furthermore, the multibanded allele happened, in this case, to be transmitted to the child, who also showed a five-banded pattern composed of four bands inherited from the alleged father and one band inherited from the mother. Second, digestion of this DNA with Hae III resulted in the visualization of just two bands at the D10S28 locus. Conclusion : The results confirm the notion that mutations at VNTR loci are not always the result of additions or deletions of tandem repeats, but that they can also involve single-base substitutions either within or flanking VNTR loci that give rise to atypical DNA profiles and new alleles at the locus. single-base changes within or flanking VNTR loci that give rise to a typical DNA profiles and new alleles at the locus.