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Abstract Background Several studies have demonstrated that array comparative genomic hybridisation (CGH) for genome-wide imbalance provides a substantial increase in diagnostic yield for patients traditionally referred for karyotyping by G-banded chromosome analysis. The purpose of this study was to demonstrate the feasibility of and strategies for, the use of array CGH in place of karyotyping for genome imbalance, and to report on the results of the implementation of this approach. Results Following a validation period, an oligoarray platform was chosen. In order to minimise costs and increase efficiency, a patient/patient hybridisation strategy was used, and analysis criteria were set to optimise detection of pathogenic imbalance. A customised database application with direct links to a number of online resources was developed to allow efficient management and tracking of patient samples and facilitate interpretation of results. Following introduction into our routine diagnostic service for patients with suspected genome imbalance, array CGH as a follow-on test for patients with normal karyotypes (n = 1245) and as a first-line test (n = 1169) gave imbalance detection rates of 26% and 22% respectively (excluding common, benign variants). At least 89% of the abnormalities detected by first line testing would not have been detected by standard karyotype analysis. The average reporting time for first-line tests was 25 days from receipt of sample. Conclusions Array CGH can be used in a diagnostic service setting in place of G-banded chromosome analysis, providing a more comprehensive and objective test for patients with suspected genome imbalance. The increase in consumable costs can be minimised by employing appropriate hybridisation strategies; the use of robotics and a customised database application to process multiple samples reduces staffing costs and streamlines analysis, interpretation and reporting of results. Array CGH provides a substantially higher diagnostic yield than G-banded chromosome analysis, thereby alleviating the burden of further clinical investigations.

Key content An overview of current information available on premenstrual syndrome ( PMS), which is in accordance with the new RCOG Green-top Guideline., Definition of PMS and explanation about the different types of premenstrual disorders., How to accurately diagnose PMS., Discussion about various treatment options available in accordance with the current literature., Learning objectives Develop an understanding of the pathophysiology behind PMS., How to diagnose PMS accurately and understand the different classifications of PMS., How to treat PMS, including the different treatment options available and discussion about side effects and benefits., Ethical issues Discussion about the long-term risks of Gn RH analogue use, and the impact of long-term estrogen deficiency following a bilateral salpingoophorectomy., Misdiagnosed PMS in patients with underlying psychiatric and medical conditions. [ABSTRACT FROM AUTHOR]

Background: Several studies have demonstrated that array comparative genomic hybridisation (CGH) for genomewide imbalance provides a substantial increase in diagnostic yield for patients traditionally referred for karyotyping by G-banded chromosome analysis. The purpose of this study was to demonstrate the feasibility of and strategies for, the use of array CGH in place of karyotyping for genome imbalance, and to report on the results of the implementation of this approach. Results: Following a validation period, an oligoarray platform was chosen. In order to minimise costs and increase efficiency, a patient/patient hybridisation strategy was used, and analysis criteria were set to optimise detection of pathogenic imbalance. A customised database application with direct links to a number of online resources was developed to allow efficient management and tracking of patient samples and facilitate interpretation of results. Following introduction into our routine diagnostic service for patients with suspected genome imbalance, array CGH as a follow-on test for patients with normal karyotypes (n = 1245) and as a first-line test (n = 1169) gave imbalance detection rates of 26% and 22% respectively (excluding common, benign variants). At least 89% of the abnormalities detected by first line testing would not have been detected by standard karyotype analysis. The average reporting time for first-line tests was 25 days from receipt of sample. Conclusions: Array CGH can be used in a diagnostic service setting in place of G-banded chromosome analysis, providing a more comprehensive and objective test for patients with suspected genome imbalance. The increase in consumable costs can be minimised by employing appropriate hybridisation strategies; the use of robotics and a customised database application to process multiple samples reduces staffing costs and streamlines analysis, interpretation and reporting of results. Array CGH provides a substantially higher diagnostic yield than G-banded chromosome analysis, thereby alleviating the burden of further clinical investigations. [ABSTRACT FROM AUTHOR]

Addition of o-iodobenzoyl chlorides to imines affords N-acyliminium ions, perhaps in equilibrium with α-chlorobenz�amides, as adducts. Reaction of the adducts with 1.1 equivalents of phenyllithium at -78 ˚C followed by warming to ambient temperature induces an intramolecular Wurtz-Fittig coupling to afford 2,3-dihydroisoindolones in excellent yields. [ABSTRACT FROM AUTHOR]

Presents a case study on palatal myoclonus related to the compression of the brain stem by an ectatic vertebral artery.