Accuracy of different approaches for detecting proximal root caries lesions in vitro.

Objectives: The objective was to evaluate the diagnostic accuracy of radiographic evaluation (XR), visual-tactile assessment (VT), laser-fluorescence (LF) (DIAGNOdent Pen/KaVo), and near-infrared-light transillumination (NILT) (DIAGNOcam/KaVo) on proximal root caries lesions in vitro.

Methods: Two-hundred extracted permanent premolars and molars with and without proximal root caries lesions were allocated to 50 diagnostic models simulating the proximal contacts between teeth and mounted in a phantom dummy head. Two independent examiners used the diagnostic approaches to detect any or advanced root caries lesions, with histologic evaluation of the lesions serving as reference.

Outcome of revascularization therapy in traumatized immature incisors.

Background: The aim of this retrospective analysis was to evaluate the clinical and radiological outcome of revascularization therapy in traumatized permanent incisors to determine whether this approach could be implemented into clinical routine.

Methods: A total of 16 traumatized incisors (either avulsion or severe luxation/intrusion) with open apices (> 1 mm) that underwent revascularization following a standardized protocol were analyzed with a mean follow-up of 22 months. Radiographs and clinical parameters (such as root length, pulp space, dentin wall width, apical foramen, alveolar bone loss, ankylosis/mobility, supra-/infraposition, discoloration, probing depth) were compared pre- and postoperatively and statistically analyzed.

Effect of iloprost on serum creatine kinase and lactate dehydrogenase isoenzymes after isoprenaline-induced cardiac damage in rats.

The effect of iloprost was investigated in an experimental model of cardiac damage in rats after isoprenaline (isoproterenol) treatment. Iloprost was administered by continuous subcutaneous infusion at a dose of 0.44 micrograms/kg body weight (b.

Serum isoenzyme pattern of creatine kinase and lactate dehydrogenase in various animal species.

The creatine kinase and lactate dehydrogenase isoenzyme pattern were determined in the serum of normal and untreated rats, rabbits, dogs, monkeys and pigs. The relative distribution of all isoenzymes in the serum and an electrophoretic pattern for each animal species are presented. The isoenzyme serum pattern showed a great variation between the species.

Synthesis of dehydro-oogoniol, a female-activating hormone of Achlya: the progesterone route.

The structure of dehydro-oogoniol (3 beta,11 alpha,15 beta,29-tetrahydroxystigmasta-5,24(28)(E)-dien-7-one), a female-activating hormone of the water mold Achlya, has been confirmed by synthesis. The starting material was progesterone, which was converted to the 11 alpha, 15 beta-dihydroxy derivative by microbiological hydroxylation with Aspergillus giganteus (ATCC 10059). The side chain was constructed in a stepwise manner by means of Wittig and Horner-Emmons reactions, and the C-7 ketone was then introduced by allylic oxidation.

Diagnostic value of serum creatine kinase and lactate dehydrogenase isoenzyme determinations for monitoring early cardiac damage in rats.

Serum activities of creatine kinase (CK, EC 2.7.3.

An aminopterin-like syndrome without aminopterin (ASSAS).

In two patients that closely resembled the phenotype of the syndrome produced by aminopterin in early pregnancy, no evidence of maternal exposure could be elicited. These, plus two similar cases from the literature, suggest the existence of an "aminopterin-like syndrome sine aminopterin" (ASSA) syndrome. Characteristic traits are: ossification defects of the cranium, temporal recession of hairline with upswept frontal hair pattern, ocular hypertelorism, prominent nose root, low set posteriorly rotated ears, limited elbow movement, variable digital defects, simian creases, short stature, and mild to moderate psychomotor retardation.

Spondylocostal/spondylothoracic dysostosis: the clinical basis for prognosticating and genetic counseling.

Short trunk dwarfism involving skeletal anomalies of vertebrae and ribs have been reported under various names. Both dominant and recessive and severe and mild conditions are found. We report on a patient without a severe handicap by age 3 years despite severe involvement of the thorax at birth, suggesting that a more complete classification of such anomalies is needed for counseling.

Diagnosis of chromosome 3 duplication q23----qter, deletion p25----pter in a patient with the C (trigonocephaly) syndrome.

The cells of a deceased patient previously reported to have the C (trigonocephaly) syndrome were reinvestigated because his phenotype resembled that of a patient with a duplication-deficiency of chromosome 3. This diagnosis was confirmed using fibroblasts grown from frozen cells, and his mother was shown to carry an inversion of chromosome 3 in her peripheral blood leukocytes. His findings are compared to those of another patient with the C trigonocephaly syndrome with normal chromosomes and to others from the literature.

Heterogeneity by cluster analysis techniques of Graves' patients typed for HLA DR and IgG heavy chain markers.

In a previous study we were able to separate, using cluster analysis, 196 patients with Graves' disease evaluated for a large number of clinical and laboratory characteristics, including HLA-A and HLA-B typing into one subset with recurring disease and a high prevalence of ophthalmopathy and another subset with mild disease and little ophthalmopathy. Prevalence of HLA-B8 was much higher in the first as compared to the second group. The present study was undertaken in 117 new patients with Graves' disease, typed for HLA-A, HLA-B, HLA-C and DR antigens and IgG heavy chain markers, to determine whether these characteristics could be used to segregate patients into clinically relevant subsets.

A prognostic score for Graves' disease.

We have reanalysed the clinical and laboratory data on 196 individuals with Graves' disease. The consensus of two clustering techniques and a new method of allocating patients to a cluster resulted in two groups of patients, those with a severe and others with a mild disease. The severe disorder is characterized by a high frequency of HLA-B8 and -Al, a low complement level, high titres of circulating immune complex and anti-thyroglobulin antibody, a high lymphocyte transformation index and serum T3 level, a low level of active E-rosettes, large goitres and a high value for the Crooks test.

Noonan syndrome: the changing phenotype.

Among the multiple congenital anomalies (MCA) syndromes, the Noonan syndrome (NS) is a cardiofacial syndrome in which affected individuals may be short and mildly mentally retarded. Autosomal dominant inheritance of Noonan syndrome with variable expressivity has been documented in many families. Genetic heterogeneity has been postulated in Noonan syndrome because of the wide phenotypic variability, the relatively high incidence, and the occasional recurrence in sibs with apparently normal parents.

A taxonomic approach to the del(4p) phenotype.

The findings of 23 patients with the del(4p) phenotype are compared systematically. Three patients with a small deletion evident only on analysis of extended chromosomes have a phenotype comparable to 13 patients with a more extensive chromosomal deletion. Two patients with no detectable deletion also fit into the phenotypic spectrum of patients with del(4p), suggesting the same etiology.

Clinical confusion of the Noonan syndrome with the Börjeson-Forssman-Lehmann syndrome.

The diagnosis of Börjeson-Forssman-Lehmann syndrome in a patient reported by Veall et al. (1979) is challenged. The clinical findings were compared with those in 32 patients with the Noonan syndrome using the extensive description, dermatoglyphics, photographs and anthropometric measurements provided in the paper.

Trisomy 9 (pter----q1 to q3): the phenotype as an objective aid to karyotypic interpretation.

The phenotypic findings of three patients whose karyotypic interpretations were uncertain were compared to patients with trisomy 9 (pter---q1 to q3). One with an extra, small acrocentric chromosome and another with a trisomy due to an inherited C/G translocation have a phenotype compatible with the trisomy 9 (pter----q1) syndrome. In a third patient reported with 47,XY,?16+, the trisomy 9p probably extends past the q1 region.

Differential diagnosis of the Williams and the Noonan syndromes.

A diagnostic index has been devised to distinguish between the Noonan and the Williams syndromes. Twins from the literature reported as having the Williams syndrome more likely represent the Noonan syndrome.

The Williams syndrome: objective definition and diagnosis.

Fifty-two patients referred for suspicion of the Williams syndrome have been evaluated and divided into those with and without the syndrome by numerical analysis. A diagnostic index using 50 characters separates patients into two groups with an expected accuracy of 99%. An index using 40 of the characteristics is expected to be applicable to young infants without a substantial decrease in accuracy.

The Marshall and Stickler syndromes: objective rejection of lumping.

To answer the question of whether nosological splitting of the Marshall and Stickler syndromes is justified at the phenotypic level, we surveyed published reports on the two syndromes and applied an objective method to determine this. A set of 18 patients with clinical description, photographs, and radiographs was used to tabulate a list of 53 signs. Cluster analysis using these signs showed that there are two groups of patients with different phenotypes.

An oculocerebral hypopigmentation syndrome.

An oculocerebral hypopigmentation syndrome consisting of growth retardation, dolichocephaly, cataracts, high arched palate, small, widely spaced teeth, generalized hypopigmentation, psychomotor retardation, progressive neurological manifestations and hypochromic anemia is described in sibs. The finding of parental consanguinity supports autosomal recessive inheritance. The syndrome resembles the Cross syndrome (1,2).

Definition and diagnosis of the Brachmann-De Lange syndrome.

We have classified patients referred for suspicion of the Brachmann-De Lange syndrome (BDLS) into two groups using techniques of numerical taxonomy. Patients with the syndrome share an array of abnormal characteristics, and those without it have different abnormal characteristics. A group of 30 characters that best distinguish the two groups of patients was used to construct a diagnostic index.

Waardenburg syndrome--penetrance of major signs.

We have estimated that 83% of individuals carrying the gene for Waardenburg syndrome type I show penetrance of the gene as measured by dystopia canthorum. This is lower than previous estimates, which failed to consider the frequency of equivocal dystopia in the general population. The addition of three other major signs (hearing loss, white forelock, and premature graying of the hair or vitiligo) does not substantially increase the discrimination of gene carriers (85% versus 83%).

Formal analysis of dysmorphism: objective methods of syndrome definition.

A set of descriptors was developed and used to code patients with 4p or 9p monosomy or trisomy, "blind" as to their karyotype. Techniques of numerical taxonomy were used to classify the patients on the basis of their phenotypic resemblance. As expected, the results confirm strong phenotype-karyotype correlations.

Increased morphological variants in children with learning disabilities.

Previous studies have shown that children with learning disabilities have more morphological variants or anomalies than normal children, suggesting that the morphological and central nervous system effects may be the result of the same prenatal factors. The morphological variants were assumed to have arisen in the first 3 months of prenatal development, which may not be so. We have partitioned variants into those that probably arise early in fetal development ("early" variants) and those that could arise later and could be due to altered growth ("late" variants).