Twenty-year trends in the prevalence of Down syndrome and other trisomies in Europe: impact of maternal age and prenatal screening

This study examines trends and geographical differences in total and live birth prevalence of trisomies 21, 18 and 13 with regard to increasing maternal age and prenatal diagnosis in Europe. Twenty-one population-based EUROCAT registries covering 6.1 million births between 1990 and 2009 participated. Trisomy cases included live births, fetal deaths from 20 weeks gestational age and terminations of pregnancy for fetal anomaly. We present correction to 20 weeks gestational age (ie, correcting early terminations for the probability of fetal survival to 20 weeks) to allow for artefactual screening-related differences in total prevalence. Poisson regression was used. The proportion of births in the population to mothers aged 35+ years in the participating registries increased from 13% in 1990 to 19% in 2009. Total prevalence per 10 000 births was 22.0 (95% CI 21.7–22.4) for trisomy 21, 5.0 (95% CI 4.8–5.1) for trisomy 18 and 2.0 (95% CI 1.9–2.2) for trisomy 13; live birth prevalence was 11.2 (95% CI 10.9–11.5) for trisomy 21, 1.04 (95% CI 0.96–1.12) for trisomy 18 and 0.48 (95% CI 0.43–0.54) for trisomy 13. There was an increase in total and total corrected prevalence of all three trisomies over time, mainly explained by increasing maternal age. Live birth prevalence remained stable over time. For trisomy 21, there was a three-fold variation in live birth prevalence between countries. The rise in maternal age has led to an increase in the number of trisomy-affected pregnancies in Europe. Live birth prevalence has remained stable overall. Differences in prenatal screening and termination between countries lead to wide variation in live birth prevalence.     

Media and political framing of crystal methamphetamine use in Australia

Abstract

Media and politicians both influence public opinion and policy responses to illicit drug issues. This study examines the contribution each may have made in Australia in 2015 to the problem and politics streams of the policy process, as outlined in Kingdon’s ‘multiple streams’ heuristic, when a National Ice Taskforce responded to increased public, political and media concern about methamphetamine use. A retrospective content analysis compared the frequency and content of articles about methamphetamine in print media (N?=?639) and federal parliament speeches (N?=?158) in 2015. Peaks in the number of media articles and debates in parliament followed the establishment and interim findings of the Ice Taskforce. The findings showed that politicians more frequently framed methamphetamine use as a crisis or epidemic than the media. Both frequently portrayed cost to society as the consequence of methamphetamine use and often cited law enforcement sources. The media most frequently positioned methamphetamine users as criminal or deviant compared to politicians who did not position the user or positioned them as an addict or victim. This analysis highlights the convergence of the problem and politics streams and suggests they are not independent as first posited by Kingdon.     

Homelessness‐Related Traumatic Events and PTSD Among Women Experiencing Episodes of Homelessness in Three U.S. Cities

In this article, we report the prevalence of traumatic events (TEs), lifetime and 12‐month posttraumatic stress disorder (PTSD) among 148 women experiencing homelessness in 3 midsized cities in the United States (Omaha, NE, Pittsburgh, PA, and Portland, OR). The women ranged in age from 19 to 54 years with an average age of 38.89 years (SD = 10.18). The sample was 42.6% White/European American. We investigated the mediation of distal TEs (i.e., childhood maltreatment) by more proximal TEs associated with being homeless (i.e., homelessness‐related stressors) for meeting diagnostic criteria for 12‐month PTSD. Results indicated that 42.6% of the women met criteria for lifetime PTSD and 39.7% met criteria for past‐year PTSD. The number of TEs reported ranged from 0 to 16 in order of prevalence with a median of 6 TEs. The correlations between childhood maltreatment and 12‐month PTSD ranged from .16 to .20 and the correlations between homelessness‐related stressors and 12‐month PTSD ranged from .21 to .30. The mediation analysis was consistent with the association between childhood maltreatment and past‐year PTSD being fully mediated by homelessness‐related trauma.     

A 13-year follow-up of Finnish patients with Salla disease

Background

Salla disease (SD) is a rare lysosomal storage disorder leading to severe intellectual disability. SD belongs to the Finnish disease heritage, and it is caused by mutations in the SLC17A5 gene. The aim of the study was to investigate the course of neurocognitive features of SD patients in a long-term follow-up.

Methods

Neuropsychological and neurological investigations were carried out on 24 SD patients, aged 16–65 years, 13 years after a similar examination.

Results

The survival analysis showed excess mortality among patients with SD after the age of 30 years. The course of the disease was progressive, but follow-up of SD patients revealed that motor skills improved till the age of 20 years, while mental abilities improved in most patients till 40 years of age. Verbal comprehension skills did not diminish during the follow-up, but productive speech deteriorated because of dyspraxia and dysarthria. Motor deficits were marked. Ataxia was prominent in childhood, but it was replaced by athetotic movements during the teens. Spasticity became more obvious with age especially in severely disabled SD patients.

Conclusions

Younger SD patients performed better in almost every task measuring mental abilities that then seem to remain fairly constant till early sixties. Thus, the results indicate better prognosis in cognitive skills than earlier assumed. There is an apparent decline in motor skills after the age of 20 years. The early neurocognitive development predicts the later course of motor and cognitive development.     

Human papillomavirus (HPV) type 6 and 16 DNA sequences in bronchial squamous cell carcinomas demonstrated by in situ DNA hybridization

A series of 131 routinely processed, paraffin-embedded biopsy specimens derived from the same number of patients with a bronchial squamous cell carcinoma were analyzed using in situ DNA-hybridization technique with a probe cocktail containing³⁵S-labeled human papillomavirus (HPV) DNA of types 6, 11, 16, 18, and 30. The 12 carcinomas shown to contain HPV DNA by the probe cocktail were subjected to in situ hybridization with the specific HPV DNA probes applied separately under high stringency conditions. HPV DNA could be found in 9 of these carcinomas; 2 cases contained HPV 6 DNA and 7 hybridized with HPV 16 DNA. The role of HPV in the development of bronchial squamous cell carcinoma is discussed in the light of the previously established morphologic evidence as well as the increasing number of reports on malignant transformation of the respiratory tract HPV lesions. The present findings of HPV DNA sequences provide further support to the concept of HPV as a potential causative agent of some bronchial squamous cell carcinomas, possibly acting synergistically with chemical or physical carcinogens. As in the genital tract, it seems clear that a respiratory tract infection by “low-risk” HPV types 6 and 11 by no means excludes the possibility of malignancy, so far ascribed almost exclusively to the “high-risk” type HPV 16.     

Trends in the prevalence, awareness, treatment and control of hypertension: the WHO MONICA Project.

OBJECTIVE: To describe the secular changes in the prevalence, awareness, treatment and control of hypertension. DESIGN: Two independent cross-sectional population surveys using standardized methods conducted between the early 1980s and mid-1990s. SETTING: Twenty-four geographically defined populations of the WHO MONICA Project. PARTICIPANTS: Randomly selected men and women aged 35-64 years. The total number of participants was 69 907. MAIN OUTCOME MEASURES: Two definitions of hypertension were used: 160/95 mmHg or above and 140/90 mmHg or above for systolic or diastolic blood pressure. Subjects on antihypertensive drug treatment were considered to be hypertensive regardless of their blood pressure. Treated subjects whose measured blood pressure level was less than 160/95 or 140/90 mmHg according to the two definitions, respectively, were considered to be adequately treated. RESULTS: The age-adjusted prevalence of hypertension decreased in most and increased in only a few populations. For both definitions of hypertension, the proportion of hypertensive subjects who were aware of their condition increased in three-quarters of the male populations and in two-thirds of the female populations. Furthermore, the proportion of hypertensive individuals on antihypertensive drug treatment increased in three-quarters of the populations. In the final survey, hypertension tended to be better treated and controlled in women than in men. Nevertheless, a large proportion of patients receiving antihypertensive drug therapy still had inadequately controlled blood pressure levels. CONCLUSION: Although awareness and treatment of hypertension according to the data obtained during the late 1980s to the mid-1990s increased in several populations, the effectiveness of antihypertensive treatment showed the continuing need for improvements.     

Linkage of essential hypertension to chromosome 18q

We performed a genomewide scan with 904 microsatellite markers using 120 extended Icelandic families with 490 hypertensive patients. The families were identified by cross-matching a list of hypertensive patients from the Hypertension Clinic of the University Hospital (Landspitalinn) in Iceland with a genealogy database of the entire Icelandic nation. After adding 5 markers, we found linkage to chromosome 18q with an allele-sharing LOD score of 4.60 (P=2.1x 10(-6)). These results provide evidence for a novel susceptibility gene for essential hypertension on chromosome 18q and show that it is possible to study the genetics of essential hypertension without stratifying by subphenotypes.     

Human papillomavirus involvement in esophageal precancerous lesions and squamous cell carcinomas as evidenced by microscopy and different DNA techniques.

A series of 71 surgically resected esophageal squamous cell carcinomas, including 51 cases of formalin-fixed samples and 20 cases of fresh biopsy specimens derived from the high-incidence area of esophageal cancer in China, were systematically analyzed for the presence of human papillomavirus (HPV) infections by light microscopy, electron microscopy (TEM), in situ DNA hybridization, Southern blot hybridization, and polymerase chain reaction (PCR) techniques. On light microscopy, HPV-suggestive lesions were found in a total of 49.0% (25 of 51) of the specimens, including the flat type (22 of 51) and, less frequently, an inverted one (2 of 51). Of the 51 formalin-fixed, paraffin-embedded specimens, 43.1% (22 of 51) contained HPV DNA sequences by in situ hybridization. Of the positive cases, HPV 6 was present in three (5.9%), HPV 11 in three (5.9%), HPV 16 in eight (15.7%), HPV 18 in six (11.8%), double infections with HPV 11/18 in one (2.0%), and HPV 16/18 in one. In most cases the HPV-positive signals were localized in the hyperplastic and/or dysplastic epithelium adjacent to invasive carcinomas. In two specimens, however, HPV DNA sequences were found in the frankly invasive lesions, one being HPV 6 and the other HPV 18. On TEM, HPV-like particles located in the nuclei of koilocytotic cells were demonstrated in two of the five specimens previously shown to be HPV-positive by in situ hybridization. By means of the PCR technique, all specimens positive for HPV by in situ hybridization also contained amplified HPV sequences. Moreover, three additional samples negative by in situ hybridization were found to contain HPV 11 DNA sequences. Of the 20 DNA samples extracted from the fresh carcinoma samples (containing some surrounding tissues as well) 9 were shown to contain HPV DNA sequences by Southern blot hybridization under low-stringency conditions. Of these, eight samples remained positive when hybridized with the probe cocktail of HPV 11, 16, 18, and 30 DNA under high-stringency conditions. HPV DNA sequences in these carcinoma specimens appeared to be present mainly in an integrated form. The present results confirm the HPV involvement in esophageal squamous cell lesions and suggest that HPV infection might be an important etiologic factor in the pathogenesis of esophageal cancer, most probably acting synergistically with other carcinogenic factors.