The return of unexpected research results in a biobank study and referral to health care for heritable long QT syndrome.

BACKGROUND: In this study, we examined how biobank study participants, who were found to have long QT syndrome (LQTS), a potentially life-threatening but treatable cardiac arrhythmia condition, experienced the process of disclosure of unexpected results and referral to health care. METHODS: All 27 subjects with a LQTS mutation finding were asked to complete a questionnaire. Four participants did not uptake the re-testing and 5 others did not respond to the questionnaire. We received 17 questionnaires from 6 males and 11 females, aged 46-82; 5 of them were also willing to participate in qualitative interviews. RESULTS: Of the respondents, 16/17 had experienced the process of receiving the results as positive and useful, especially if they had had symptoms. One respondent experienced the process negatively due to concerns related to informing her children. All respondents felt that genetic results should be reported back to the participants, while 2 indicated that this should occur only in the case of treatable conditions. Respondents had informed all of their children about the genetic condition, except 2 minors. CONCLUSIONS: The respondents from a population biobank study who were informed about an unexpected genetic finding evaluated this process as mainly positive. They considered that delivering genetic information about a life-threatening but actionable condition has more beneficial than adverse consequences. The feedback policy for biobanks should include how and who is informed, advise treatment or care pathways for actionable findings, and it should also include suitable options for those who do not want to know about such findings.

Prognostication in eye cancer: the latest tumor, node, metastasis classification and beyond.

The tumour, node, metastasis (TNM) classification is a universal cancer staging system, which has been used for five decades. The current seventh edition became effective in 2010 and covers six ophthalmic sites: eyelids, conjunctiva, uvea, retina, orbit, and lacrimal gland; and five cancer types: carcinoma, sarcoma, melanoma, retinoblastoma, and lymphoma. The TNM categories are based on the anatomic extent of the primary tumour (T), regional lymph node metastases (N), and systemic metastases (M). The T categories of ophthalmic cancers are based on the size of the primary tumour and any invasion of periocular structures. The anatomic category is used to determine the TNM stage that correlates with survival. Such staging is currently implemented only for carcinoma of the eyelid and melanoma of the uvea. The classification of ciliary body and choroidal melanoma is the only one based on clinical evidence so far: a database of 7369 patients analysed by the European Ophthalmic Oncology Group. It spans a prognosis from 96% 5-year survival for stage I to 97% 5-year mortality for stage IV. The most accurate criterion for prognostication in uveal melanoma is, however, analysis of chromosomal alterations and gene expression. When such data are available, the TNM stage may be used for further stratification. Prognosis in retinoblastoma is frequently assigned by using an international classification, which predicts conservation of the eye and vision, and an international staging separate from the TNM system, which predicts survival. The TNM cancer staging manual is a useful tool for all ophthalmologists managing eye cancer.

Emergence of permanent teeth and dental age in a series of Finns.

The emergence of permanent teeth was studied in 187 Finnish children who had longitudinal records of the emergence of all permanent teeth except third molars. Exact emergence dates were known for about one third of the teeth. Emergence ages of the remaining teeth were based on their presence and absence at clinical examinations. We calculated ages at clinical eruption of permanent teeth and tooth counts at half year intervals. Ages corresponding to counts of permanent teeth from 1 to 27 are also given. The schedules presented, which slow means, standard deviations, and percentage distributions, are expected to serve as useful references in clinical dentistry, pediatrics, forensics, and research. The mandibular central incisor emerged before the first molar of the same jaw in 68% of the children. A change in the emergence order of these teeth in Finns seems to have occurred in the 1960s. A visual comparison of dental maturity curves based on tooth counts with curves based on tooth mineralization in a previous Finnish radiographic study showed that the mean curves had roughly the same form, whereas the forms of standard deviation curves differed distinctly. It appears that the two methods to assess dental maturity are not interchangeable in practice. Tooth counts can be used in maturity estimations up to about 13 years of age, whereas the radiographic method works best to about 11 years.

Age estimation in small children: reference values based on counts of deciduous teeth in Finns.

The eruption of teeth in the mouth is suitable for age estimations during the period when teeth are actively emerging, in the deciduous dentition phase approximately from the age of 6 months to 2.5 years. Estimations of age can be performed simply by counting the number of teeth in the mouth. Reliability of the estimates depends on the reference data available and each population group should preferably have its own standards. In the present study timing of eruption of successive deciduous teeth was studied longitudinally in 129 Finns. The dates of clinical eruption of deciduous teeth were recorded by mothers and checked by dentists. In 40 of the 129 children emergence ages of at the most the four last teeth were based only on semiannual registrations performed by dentists. The main purpose was to provide normal timetables of tooth eruption in small children in forms that are practical in estimations of dental age. No sexual dimorphism existed in the timing of clinical eruption of successive deciduous teeth. The mean age corresponding to the presence of one tooth in the mouth was 7.1 months (S.D.=1.78) and that corresponding to tooth count 19 was 27.8 months (S.D.=3.99). If the chronological age is known, the presented distributions and means with variations make it possible to estimate the degree of advancement or delay in a child's dental development. If the age of the child is not known, the mean and median ages can be used for estimations of chronological age. However, estimations of age should not be based only on tooth counts because of marked variation also within this homogeneous group.

Rural magnet hospitals of excellence. Part 2.

Although almost half of the hospitals in the United States are rural and small, they often are not seen as leaders in innovation. However, many practices now being adopted by large hospitals have been used in rural hospitals for many years. To understand excellence in rural hospitals, the authors present a study of rural hospitals of excellence, using procedures from the 1982 Magnet Hospitals Study. Part 1 was reported in the January issue of JONA.

Rural magnet hospitals of excellence. Part 1.

Although almost half of the hospitals in the United States are rural and small, they are often not seen as leaders in innovation. However, many practices just now being adopted by large hospitals have been used in rural hospitals for many years. To understand excellence in rural hospitals, the authors present a study of rural hospitals of excellence, using procedures from the 1982 Magnet Hospitals Study. Part 2 will be published in the February issue.

A 2-year follow-up on the clinical and microbiological conditions of periodontium in teenagers.

87 teenagers were included in a 2-year follow-up study on clinical and microbiological conditions of the periodontium. The clinical status was determined according to the Community Periodontal Index of Treatment Needs (CPITN) for subjects under 20 years of age. 59% of the subjects had at least 3 healthy sextants at the baseline and 68% at the 2-year examination. The microbiological conditions were assessed by using direct dark-field microscopy, and the culture of Actinobacillus actinomycetemcomitants (A.a.). Subgingival bacterial samples were taken, 2 for the microscopy and 2 for the culture, from the mesial surfaces of the first molars of each subject. The presence of gingival bleeding after probing was separately recorded from the 2 sites sampled for dark-field microscopy. No gingival bleeding at these 2 sites was found at the 2-year examination in 55% of those subjects who were non-bleeding at baseline, in 46% of the subjects initially with 1 bleeding site and in 13% of the subjects with both sites bleeding at baseline. 55% of the subjects with neither fusiforms, motile rods nor spirochetes at baseline maintained their healthy flora for 2 years. A.a. was recovered in 4 subjects at baseline and in 5 subjects 2 years later, in 3 of them at both examinations. Longer follow-up periods are needed to reveal the significance of the constant recovery of A.a. from the same subjects.

Salivary caries-related tests as predictors of future caries increment in teenagers. A three-year longitudinal study.

The aim of the study was to evaluate the capability of caries-related salivary tests and a test based on past caries experience (baseline DFS) to select persons at high risk for caries. The subjects (n = 122) were 12-17 years old at the beginning of the study. Caries was registered and salivary samples were taken annually during the 3-study period. The 3-year caries increment was positively correlated to the baseline DFS (r = 0.46, p less than 0.001), salivary level of mutans streptococci (r = 0.30, p less than 0.001) and lactobacilli (r = 0.30, p less than 0.001), and combined level of mutans streptococci and lactobacilli (r = 0.39, p less than 0.001) and negatively correlated to the buffering capacity of saliva (r = -0.22, p less than 0.05). Tests based on either past caries experience or mutans streptococci or lactobacilli levels alone were not efficient in selecting persons at high risk for caries. Among the tests, DFS was the most sensitive and specific. A combination of either microbial test and DFS was more efficient to select persons at risk than various alternatives alone. The sensitivity was 84% and the specificity 62% for the combination of lactobacilli test and DFS and 71% and 79% respectively for the combination of mutans streptococci and DFS. In the former combination the positive prediction value was 43% and in the latter 56%.

Streptococcus mutans, not detected?

The growth of Streptococcus mutans was followed for three years in 24 healthy 12-17 year-old children, who were selected for the study on the basis of undetectable levels of salivary S. mutans. The saliva samples were cultured by a dip-slide method based on mitis-salivarius agar supplemented with sucrose and bacitracin. At the final occasion, additional examination of plaque and saliva of 10 children using TSY20B agar was performed. During the 3-year study period, S. mutans was found in saliva samples from 15 children on one or more of the 4 test occasions, suggesting that most 'S. mutans negative individuals' were those in whom S. mutans could not be temporarily detected. The additional examination of plaque did not increase the number of 'S. mutans-positive individuals'.

Signs and symptoms of craniomandibular disorders in a series of Finnish children.

The prevalences of subjective symptoms and clinical signs of craniomandibular (CM) disorders, orofacial parafunctions, and occlusal conditions were determined in a series of Finnish children (n = 166). All were first interviewed, and then 156 of them were examined clinically. Fifty-two per cent of the children reported at least one subjective symptom, and 75% at least one parafunctional habit. Clinical signs were common but rarely severe in accordance with Helkimo's clinical dysfunction index (Di). Both the number of subjective symptoms (p less than 0.001) and the number of orofacial parafunctions (p less than 0.05) correlated with the clinical dysfunction index.

Dental maturity in Finnish children, estimated from the development of seven permanent mandibular teeth.

Overall dental maturity was studied semilongitudinally in a group of 248 healthy children born in Helsinki in 1968-73. In all, 738 orthopantomograms were taken of these children at ages of 2.5-16.5 years. Overall dental maturity was estimated by the method of Demirjian and Goldstein, which is based on the development of seven left mandibular permanent teeth. The aim of the study was to construct dental maturity curves for Finnish children and to compare their dental maturity with that of French-Canadian children studied by the same method. The Finnish children were more advanced in dental maturation than French-Canadian children (p less than 0.01). In boys the advancement was seen at the age of 5-10 years and in girls at the age of 4-12 years. These findings suggest differences in overall dental maturity among white population groups.

Subgingival microflora and periodontal conditions in healthy teenagers.

The composition of subgingival flora was correlated with clinical periodontal conditions in 100 teenagers aged 12 to 17 years. The Community Periodontal Index of Treatment Needs (CPITN) was used for the clinical examination. Subgingival bacterial samples were taken from the mesial surface of each first molar, two samples for dark-field microscopy and two samples for Actinobacillus actinomycetemcomitans (A.a.) cultivation. Fifty-nine subjects had at least three healthy sextants. Score 1 was the highest CPITN recording in 61 subjects and Score 2 in 30 subjects. None had scores 3 or 4. In dark-field microscopy, cocci predominated in most samples. Straight rods, fusiforms and motile rods correlated negatively to the number of healthy sextants per subject. Straight rods and fusiforms showed a positive correlation to gingival bleeding tendency at the sampled site. A.a. was isolated in four subjects. Motile microorganisms and A.a. were detected rarely in subjects with good periodontal conditions.