Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes

BACKGROUND: Duplications and deletions in the human genome can cause disease or predispose persons to disease. Advances in technologies to detect these changes allow for the routine identification of submicroscopic imbalances in large numbers of patients. METHODS: We tested for the presence of microdeletions and microduplications at a specific region of chromosome 1q21.1 in two groups of patients with unexplained mental retardation, autism, or congenital anomalies and in unaffected persons. RESULTS: We identified 25 persons with a recurrent 1.35-Mb deletion within 1q21.1 from screening 5218 patients. The microdeletions had arisen de novo in eight patients, were inherited from a mildly affected parent in three patients, were inherited from an apparently unaffected parent in six patients, and were of unknown inheritance in eight patients. The deletion was absent in a series of 4737 control persons (P=1.1x10(-7)). We found considerable variability in the level of phenotypic expression of the microdeletion; phenotypes included mild-to-moderate mental retardation, microcephaly, cardiac abnormalities, and cataracts. The reciprocal duplication was enriched in nine children with mental retardation or autism spectrum disorder and other variable features (P=0.02). We identified three deletions and three duplications of the 1q21.1 region in an independent sample of 788 patients with mental retardation and congenital anomalies. CONCLUSIONS: We have identified recurrent molecular lesions that elude syndromic classification and whose disease manifestations must be considered in a broader context of development as opposed to being assigned to a specific disease. Clinical diagnosis in patients with these lesions may be most readily achieved on the basis of genotype rather than phenotype.

Implementation of Evidence-Based Practices for Treatment of Alcohol and Drug Disorders: The Role of the State Authority

The current climate of increasing performance expectations and diminishing resources, along with innovations in evidence-based practices (EBPs), creates new dilemmas for substance abuse treatment providers, policymakers, funders, and the service delivery system. This paper describes findings from baseline interviews with representatives from 49 state substance abuse authorities (SSAs). Interviews assessed efforts aimed at facilitating EBP adoption in each state and the District of Columbia. Results suggested that SSAs are concentrating more effort on EBP implementation strategies such as education, training, and infrastructure development, and less effort on financial mechanisms, regulations, and accreditation. The majority of SSAs use EBPs as a criterion in their contracts with providers, and just over half reported that EBP use is tied to state funding. To date, Oregon remains the only state with legislation that mandates treatment expenditures for EBPs; North Carolina follows suit with legislation that requires EBP promotion within current resources.

Implementation of MET/CBT 5 for adolescents

Implementation of effective substance abuse treatment programs in community settings is a high priority. The selection of a proven cost-effective model is a first step; however, difficulty arises when the model is imported into a community setting. The Center on Substance Abuse Treatment selected a brief substance abuse treatment program for adolescents, the MET/CBT-5 program, determined to be the most cost-effective protocol in the Cannabis Youth Treatment trial, for implementation in two cohorts of Effective Adolescent Treatment grantees. A qualitative investigation of the protocol implementation with nine sites in the second cohort chronicled adaptations made by grantees and prospects for sustainability. The study found that agencies introduced adaptations without seeming to be aware of potential effects on validity. In most sites, sessions were lengthened or added to accommodate individual client needs, address barriers to client participation, and provide consistency with current norms of treatment. Implications for fidelity of future implementation projects are addressed.

Montana Oil Fields

Since the discovery of oil in Montana in1916, the petroleum industry has advanced to a point where over 5,000,000 barrels of oil worthover $6,500,000 has been produced in each of the three past years (1936, 1937, and 1938).

Seafloor to Summit: The Birth of Everest

This lecture, delivered at Montana Tech, documents the 2012 expedition to Mt. Everest in Nepal by Conard Anker and Dave Lageson from Bozeman, Montana. The trip commemorated the 50th anniversary of the first American assent in 1963. The climbers gathered rock samples on and near the summit and created a new educational outreach model to elementary school children.

Die Abschrift als Schreibszene. Der ›Nuwe Parzifal‹ in der Handschrift Rom, Biblioteca Casanatense, Mss. 1409

The Codex Biblioteca Casanatense 1409 which has for a long time been neg- lected in Parzival scholarship, transmits German translations of three continuations of Chre ́tien de Troyes‘ Roman de Perceval ou Le Conte du Graal together with the last two books (XV/XVI) of Wolfram von Eschenbach’s Parzival. This article supports the for- merly casually made assumption that the Casanatense manuscript is in fact a direct copy of Codex Donaueschingen 97, the so called Rappoltsteiner Parzifal. As is to be shown, marks in the Donaueschingen codex, as well as significant copying errors in the Casanatense text and its treatment of initials suggest a direct relationship of the two witnesses. The notion of ,writing scene‘ (Schreibszene) with its implications of linguistic semantics, instrumentality, gesture and self reflection, proposed in modern literary scholarship, can help to understand peculiarities of the copying process in the Casanatensis, such as the numerous conceptual abbreviations and the adaptations in the handling of headings. In the final part of the article, the hypothesis is corroborated, that the copy of the Casa- natensis might have been produced in the surroundings of Lamprecht von Brunn (ca. 1320–1399), bishop of Strasburg and Bamberg, and counsellor of the emperor Charles IV.