Intraorbital and intracranial extension of sinusitis: comparative morbidity.

Objectives: We hypothesized that intracranial extension of sinusitis carries greater morbidity than extension confined to the orbit and that presenting features can raise suspicion for intracranial extension.

Study Design: A retrospective review (1997 to 2006) identified 118 children with sinusitis complicated by intracranial extension or intraorbital extension. Presenting features and infecting organisms were compared using χ(2) or Fisher exact tests.

A radiobiological analysis of the effect of 3D versus 4D image-based planning in lung cancer radiotherapy.

Dose distributions generated on a static anatomy may differ significantly from those delivered to temporally varying anatomy such as for abdominal and thoracic tumors, due largely in part to the unavoidable organ motion and deformation effects stemming from respiration. In this work, the degree of such variation for three treatment techniques, namely static conventional, gating and target tracking radiotherapy, was investigated. The actual delivered dose was approximated by planning all the phases of a 4DCT image set.

Assessing four-dimensional radiotherapy planning and respiratory motion-induced dose difference based on biologically effective uniform dose.

Four-dimensional (4D) radiotherapy is considered as a feasible and ideal solution to accommodate intra-fractional respiratory motion during conformal radiation therapy. With explicit inclusion of the temporal changes in anatomy during the imaging, planning, and delivery of radiotherapy, 4D treatment planning in principle provides better dose conformity. However, the clinical benefits of developing 4D treatment plans in terms of tumor control rate and normal tissue complication probability as compared to other treatment plans based on CT images of a fixed respiratory phase remains mostly unproven.

A comprehensive review of the treatment of Merkel cell carcinoma.

Merkel cell carcinoma (MCC) is an uncommon but malignant cutaneous neuroendocrine carcinoma with a high incidence of local recurrence, regional lymph node metastases, and subsequent distant metastases. The etiology of MCC remains unknown. It usually occurs in sun-exposed areas in elderly people, many of whom have a history of other synchronous or metachronous sun-associated skin lesions.

Mycobacterium simiae complex infection in an immunocompetent child.

Nontuberculous mycobacteria are ubiquitous in the environment but rarely infect immunocompetent patients. We describe a pediatric case of Mycobacterium simiae complex lymphadenitis in an immunocompetent child and review the natural history, clinical manifestations, diagnosis, and current management of the disease.

New mutations in the KVLQT1 potassium channel that cause long-QT syndrome.

Background: Long-QT syndrome (LQTS) is an inherited cardiac arrhythmia that causes sudden death in young, otherwise healthy people. Four genes for LQTS have been mapped to chromosome 11p15.5 (LQT1), 7q35-36 (LQT2), 3p21-24 (LQT3), and 4q25-27 (LQT4).

A genetic etiology for interruption of the aortic arch type B.

Interrupted aortic arch (IAA) type B is a congenital heart defect believed to be caused by an anomaly of bronchial arch mesenchymal development. IAA type B has been associated with DiGeorge syndrome (DGS), which includes conotruncal heart defects, T-cell immunodeficiency, hypocalcemia, and facial abnormalities. The great majority of DGS cases are associated with hemizygous deletions at the chromosome 22q11 locus.

Evidence for a dystrophin missense mutation as a cause of X-linked dilated cardiomyopathy.

Background: X-linked dilated cardiomyopathy (XLCM) has previously been shown to be due to mutations in the dystrophin gene, which is located at Xp21. Mutations in the 5' portion of the gene, including the muscle promoter, exon 1, and the exon 1-intron 1 splice site, have been reported previously. The purpose of this study was to analyze the originally described family with XLCM (and other) for dystrophin mutations.

Gene mapping of familial autosomal dominant dilated cardiomyopathy to chromosome 10q21-23.

Dilated cardiomyopathy (DCM) is the most common form of primary myocardial disorder, accounting for 60% of all cardiomyopathies. In 20-30% of cases, familial inheritance can be demonstrated; an autosomal dominant transmission is the usual type of inheritance pattern identified. Previously, genetic heterogeneity was demonstrated in familial autosomal dominant dilated cardiomyopathy (FDCM).

Genetic heterogeneity in familial dilated cardiomyopathy.

Familial dilated cardiomyopathy (FDCM), an inherited primary form of myocardial disease, is a significant cause of morbidity and mortality at all ages and the leading reason for cardiac transplantation worldwide. Although typically inherited as an autosomal dominant disorder, all forms of inheritance have been recognized. FDCM appears to be responsible for approximately 20-30% of all cases of dilated cardiomyopathy, the most common form of cardiomyopathy.