Association of a de novo 16q copy number variant with a phenotype that overlaps with Lenz microphthalmia and Townes-Brocks syndromes

<p>Abstract</p> <p>Background</p> <p>Anophthalmia and microphthalmia are etiologically and clinically heterogeneous. Lenz microphthalmia is a syndromic form that is typically inherited in an X-linked pattern, though the causative gene mutation is unknown. Townes-Brocks syndrome manifests thumb anomalies, imperforate anus, and ear anomalies. We present a 13-year-old boy with a syndromic microphthalmia phenotype and a clinical diagnosis of Lenz microphthalmia syndrome.</p> <p>Case Presentation</p> <p>The patient was subjected to clinical and molecular evaluation, including array CGH analysis. The clinical features included left clinical anophthalmia, right microphthalmia, anteriorly placed anus with fistula, chordee, ventriculoseptal defect, patent ductus arteriosus, posteriorly rotated ears, hypotonia, growth retardation with delayed bone age, and mental retardation. The patient was found to have an approximately 5.6 Mb deletion of 16q11.2q12.1 by microarray based-comparative genomic hybridization, which includes the <it>SALL1 </it>gene, which causes Townes-Brocks syndrome.</p> <p>Conclusions</p> <p>Deletions of 16q11.2q12.2 have been reported in several individuals, although those prior reports did not note microphthalmia or anophthalmia. This region includes <it>SALL1</it>, which causes Townes-Brocks syndrome. In retrospect, this child has a number of features that can be explained by the <it>SALL1 </it>deletion, although it is not clear if the microphthalmia is a rare feature of Townes-Brocks syndrome or caused by other mechanisms. These data suggest that rare copy number changes may be a cause of syndromic microphthalmia allowing a personalized genomic medicine approach to the care of patients with these aberrations.</p

The Epidemiology, Genetics and Future Management of Syndactyly

Syndactyly is a condition well documented in current literature due to it being the most common congenital hand defect, with a large aesthetic and functional significance

Guidelines for the use of flow cytometry and cell sorting in immunological studies (third edition)

The third edition of Flow Cytometry Guidelines provides the key aspects to consider when performing flow cytometry experiments and includes comprehensive sections describing phenotypes and functional assays of all major human and murine immune cell subsets. Notably, the Guidelines contain helpful tables highlighting phenotypes and key differences between human and murine cells. Another useful feature of this edition is the flow cytometry analysis of clinical samples with examples of flow cytometry applications in the context of autoimmune diseases, cancers as well as acute and chronic infectious diseases. Furthermore, there are sections detailing tips, tricks and pitfalls to avoid. All sections are written and peer-reviewed by leading flow cytometry experts and immunologists, making this edition an essential and state-of-the-art handbook for basic and clinical researchers

Guidelines for the use of flow cytometry and cell sorting in immunological studies (third edition)

The third edition of Flow Cytometry Guidelines provides the key aspects to consider when performing flow cytometry experiments and includes comprehensive sections describing phenotypes and functional assays of all major human and murine immune cell subsets. Notably, the Guidelines contain helpful tables highlighting phenotypes and key differences between human and murine cells. Another useful feature of this edition is the flow cytometry analysis of clinical samples with examples of flow cytometry applications in the context of autoimmune diseases, cancers as well as acute and chronic infectious diseases. Furthermore, there are sections detailing tips, tricks and pitfalls to avoid. All sections are written and peer-reviewed by leading flow cytometry experts and immunologists, making this edition an essential and state-of-the-art handbook for basic and clinical researchers

Meningococcal osteomyelitis of the fibula.

[No abstract available

Economic Evaluation Guide for alternative transportation fuels

The production of this Economic Evaluation Guide is one activity of AVFCAP. The guide is intended for use by project managers and fleet operators in the public sector. Public fleets have been identified as one of the most likely areas where ATFs will first gain widespread use, because of existing and impending state and federal legislative mandates, as well as for practical reasons such as centralized servicing and refueling. The purpose of this guide is to provide balanced decision-support information to project managers who are considering conducting, or currently managing, ATF demonstration programs. Information for this guide was gathered as part of a related AVFCAP activity, the development of an Information Resource Database. Economic issues related to the development and implementation of ATF programs at the local government level are extremely complex, and require an analysis of federal policies and national and international economics that is generally beyond the scope of local government project managers. The intent of this guide is to examine the information available on the economic evaluation of ATFs, and identify key elements that will help local governments realistically assess the potential costs and savings of an ATF program. The guide also discusses how these various economic factors are related, and how local government priorities affect how different factors are weighed

Economic Evaluation Guide for alternative transportation fuels

The production of this Economic Evaluation Guide is one activity of AVFCAP. The guide is intended for use by project managers and fleet operators in the public sector. Public fleets have been identified as one of the most likely areas where ATFs will first gain widespread use, because of existing and impending state and federal legislative mandates, as well as for practical reasons such as centralized servicing and refueling. The purpose of this guide is to provide balanced decision-support information to project managers who are considering conducting, or currently managing, ATF demonstration programs. Information for this guide was gathered as part of a related AVFCAP activity, the development of an Information Resource Database. Economic issues related to the development and implementation of ATF programs at the local government level are extremely complex, and require an analysis of federal policies and national and international economics that is generally beyond the scope of local government project managers. The intent of this guide is to examine the information available on the economic evaluation of ATFs, and identify key elements that will help local governments realistically assess the potential costs and savings of an ATF program. The guide also discusses how these various economic factors are related, and how local government priorities affect how different factors are weighed