Effects of gene replacement therapy with resamirigene bilparvovec (AT132) on skeletal muscle pathology in X-linked myotubular myopathy: results from a substudy of the ASPIRO open-label clinical trial.

Background: X-linked myotubular myopathy (XLMTM) is a rare, life-threatening congenital muscle disease caused by mutations in the MTM1 gene that result in profound muscle weakness, significant respiratory insufficiency, and high infant mortality. There is no approved disease-modifying therapy for XLMTM. Resamirigene bilparvovec (AT132; rAAV8-Des-hMTM1) is an investigational adeno-associated virus (AAV8)-mediated gene replacement therapy designed to deliver MTM1 to skeletal muscle cells and achieve long-term correction of XLMTM-related muscle pathology.

Posttransplant Hodgkin lymphoma preceded by polymorphic posttransplant lymphoproliferative disorder: report of a pediatric case and review of the literature.

Epstein-Barr virus-mediated posttransplant lymphoproliferative disorder (PTLD) is a well-recognized complication of immunosuppression in transplant patients and has broad clinical manifestations and pathologic features ranging from reactive lymphoid proliferation to malignant lymphoma. The category of Hodgkin lymphoma and Hodgkin lymphomalike PTLD is an uncommon variant of PTLD. Development of Hodgkin lymphoma subsequent to other subtypes of PTLD in the same patient is even more unusual, especially in pediatric patients.

Multicenter beta trial of the GeneXpert enterovirus assay.

The GeneXpert Dx system (Cepheid, Sunnyvale, CA) is a fully integrated and automated nucleic acid sample preparation, amplification, and real-time detection system. It consists of an instrument, a personal computer, and disposable fluidic cartridges. The analytical sensitivity and specificity of the GeneXpert enterovirus assay (GXEA) were determined with a panel of 63 different enterovirus serotypes and 24 other microorganisms, respectively.

Nonpositive terminal deoxynucleotidyl transferase in pediatric precursor B-lymphoblastic leukemia.

Terminal deoxynucleotidyl transferase (TdT) is a unique intranuclear DNA polymerase that catalyzes the template-independent addition of deoxynucleotides to the 3'-hydroxyl terminus of oligonucleotide primers. The expression of TdT is restricted to lymphoid precursors. It is a useful marker in distinguishing acute lymphoblastic leukemia (ALL)from mature lymphoid neoplasms.

A community-based approach to the medical humanities.

Background: This paper discusses the rationale behind, and an approach to, the development of a graduate level interdisciplinary curriculum in literature and health care that incorporates community-based learning. Such an innovative approach emerges from the recognition that professional training in both health care and humanities programmes often does not model the kinds of collaborative relationships and professional values desired by contemporary health care students, providers and patients.

Method: Recent trends in literary study and the medical humanities are described, along with the function (and benefits to students) of interdisciplinary classrooms and the role of community-based learning in higher education.

Videofluoroscopic swallow studies in unilateral cricopharyngeal dysfunction.

Objectives/hypothesis: Although the cricopharyngeus muscle is a ring-like structure, unilateral cricopharyngeal dysfunction can produce significant dysphagia. This entity has not been well described in the literature. The aims of the study were to identify the characteristic findings on videofluoroscopic swallow studies in patients with dysphagia secondary to unilateral cricopharyngeal dysfunction, to note the associated vagal nerve injury, and to evaluate patient outcomes following ipsilateral cricopharyngeal myotomy.

Morphology of the cricopharyngeal muscle in Zenker and control specimens.

The cricopharyngeal muscle (CPM) is essential for normal deglutition. Pharyngeal dysphagia commonly results from impaired or uncoordinated CPM dilation. Dysfunction of the CPM has also been implicated in the genesis of Zenker's (pharyngoesophageal) diverticulum.