Allele-specific molecular diagnosis of Duchenne and Becker muscular dystrophies (DMD and BMD) has been largely dependent upon muscle biopsy for dystrophin protein assay. We performed lymphocyte DNA mutation analysis by polymerase chain reaction on 14 boys presenting with a clinical picture compatible with DMD or BMD. DNA analysis revealed that 12 of 14 boys had a deletion of the dystrophin gene, thus establishing the diagnosis of DMD/BMD. Furthermore, genotypes for 9 of 12 deletion patients permitted prediction of the specific allelic disorder (i.e., DMD or BMD). Subsequent dystrophin testing confirmed all of the DNA-based diagnoses. We propose that DNA mutation analysis be included in the initial evaluation of patients suspected of having DMD/BMD, thus potentially eliminating the need for muscle biopsy in the majority of patients.

Biopsy↗

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Eye Movement Desensitization and Reprocessing (EMDR) and the anxiety disorders: clinical and research implications of an integrated psychotherapy treatment.

Four recent, independent, rigorously controlled studies of Eye Movement Desensitization and Reprocessing (EMDR) have reported that 84 to 100% of single-trauma victims no longer maintain the posttraumatic stress disorder diagnosis after the equivalent of three 90-minute sessions. The rapidity of EMDR treatment effects makes many ancillary research opportunities available. Specifically, the increased number of cases resolved in a relatively short period of time allows investigation of neurophysiological phenomena, patterns of cognitive and emotional processing, component analyses of a large range of procedural factors, and evaluation of the efficacy of application to diverse clinical populations. Unfortunately, some research has been conducted that has been severely hampered by insufficient treatment fidelity and lack of clinical validity. Consequently, this article will attempt to describe the procedures and protocols that are believed to contribute to EMDR's clinical effects and are, therefore, suggested for the EMDR treatment and research of the anxiety disorders. This is particularly relevant given the misconceptions that have abounded due to the unfortunate naming of the procedure after the eye movements, which have proved to be only one of many useful types of stimulation, and only one of many components of this complex, integrated treatment.

Anxiety Disorders↗

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Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy.

Duchenne muscular dystrophy (DMD) is an X-linked recessive genetic disorder for which the biochemical defect is as yet unknown. Recently, two cloned segments of human X-chromosome DNA have been described which detect structural alterations within or near the genetic locus responsible for the disorder. Both of these cloned segments were described as tightly linked to the locus and were capable of detecting deletions in the DNA of boys affected with DMD. In an attempt to determine more precisely the occurrence of these deletions within a large population of DMD patients and the accuracy of one of the segments, DXS164 (pERT87), in determining the inheritance of the DMD X chromosome, the subclones 1, 8 and 15 were made available to many investigators throughout the world. Here we describe the combined results of more than 20 research laboratories with respect to the occurrence of deletions at the DXS164 locus in DNA samples isolated from patients with DMD and Becker muscular dystrophy (BMD). The results indicate that the DXS164 locus apparently recombines with DMD 5% of the time, but is probably located between independent sites of mutation which yield DMD. The breakpoints of some deletions are delineated within the DXS164 locus, and it is evident that the deletions at the DMD locus are frequent and extremely large.

Chromosome Deletion↗

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The challenges of treatment evolution and integration.

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Desensitization, Psychologic↗

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Eye movement desensitization and reprocessing: treating trauma and substance abuse.

Eye Movement Desensitization and Reprocessing (EMDR) is a new psychological methodology that has been applied to a wide range of psychological disorders. Clinical reports over the past three years indicate that it is an important addition to the treatment of substance abuse. EMDR offers a structured, client-centered model that integrates key elements of intrapsychic, behavioral, cognitive, body-oriented, and interactional approaches. Treatment effects are quite rapid and, during an individual session, the therapist may witness accelerated processing of information involving a shift of cognitive structures (including the assimilation of positive beliefs) along with the desensitization of attendent traumata. The application of EMDR apparently stimulates an inherent physiological processing system that allows dysfunctional information to be adaptively resolved, resulting in increased insight and more functional behavior. The judicious use of EMDR includes a comprehensive client history and extensive preparation, allowing the client to deal with the high levels of disturbance often engendered by the treatment itself. After the inauguration of a sufficient therapeutic alliance, adequately addressing potential issues of secondary gain, and appropriate client stabilization, EMDR may be used to ameliorate the effects of earlier memories that contribute to the dysfunction, potential relapse triggers, and physical cravings. In addition, EMDR is used to incorporate new coping skills and assist in learning more adaptive behaviors. Other potential targets for reprocessing include treatment noncompliance, ambivalence about abstinence, and present crises. Finally, EMDR should be used on this clinical population only by a trained clinician who is educated and experienced with this problem area.

Desensitization, Psychologic↗

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Congenital scoliosis. A histopathologic study.

A histopathologic study of the spine from a child with congenital scoliosis indicates that the major problems relate to the vertebral bodies, which are irregular in size, shape, and position, and to the adjacent intervertebral discs, which are always abnormal. Bone and cartilage as tissues, however, are histologically and histochemically unremarkable; it is their positioning which is irregular. No molecular abnormality of collagen could be found in bone, cartilage, or skin. Pathogenesis is discussed in reference to theories of general and vertebral morphogenesis. The findings of abnormal spatial deposition of histologically and biochemically unremarkable tissue are consistent with inductive abnormalities of the notochord. The clinical and radiologic manifestations in congenital scoliosis are a combination of primary embryologic abnormalities, secondary developmental abnormalities which spring from the, and tertiary developmental irregularities.

Collagen↗

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Acute gastric volvulus following Harrington rod instrumentation in a patient with Werdnig-Hoffman disease.

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Adolescent↗

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Consequences of an osteogenesis imperfecta diagnosis for survival and ambulation.

In osteogenesis imperfecta, time of initial fracture and radiographic appearance of long bones and ribs at time of initial fracture provide good prognostic indicators concerning survival and ambulation. Osteogenesis imperfecta congenita (OIC) comprises those patients with intrauterine and/or birth fractures. Radiographs of newborns with OIC-A show short, broad, and crumpled femurs and ribs, whereas initial radiographs of patients with OIC-B demonstrate bones with normal contours in spite of fractures. Osteogenesis imperfecta tarda (OIT) comprises those patients who fracture initially after birth. Patients with OIT-A fracture initially before walking begins, and patients with OIT-B after walking has begun. In OIC-A, 15 of 16 (94%) died; one survived but was wheelchair bound. In OIC-B, only two of 27 (8%) died, with 59% in wheelchairs and 33% ambulatory. No patients with OIT died. In OIT-A, 33% were in wheelchairs and 67% were ambulatory. In OIT-B, 100% were ambulatory.

Adolescent↗

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Early MR imaging of lower-extremity physeal fracture-separations: a preliminary report.

Magnetic resonance imaging (MRI) was used to evaluate physeal fracture-separations in children soon after at-risk lower-extremity fractures. MRI scans taken during the "acute" period (within 10 days of fracture) resulted in a change in three of four of the Salter-Harris classifications from the injury radiographs. Twelve children had MRI scans performed in the "early" period (3-17 weeks following fracture). Physeal narrowing or tethering and the absence of Harris arrest lines were found in those patients who subsequently required late surgical intervention. Acute MRI provides the most accurate evaluation of the physeal fracture anatomy. Early MRI can demonstrate transphyseal bridging or altered arrest lines in physeal fracture before they become manifest on radiographs.

Adolescent↗

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Malignant fibrous histiocytoma of bone: an ultrastructural study.

An ultrastructural study of a case of malignant fibrous histiocytoma of bone in a 16-year-old skeletally mature female is presented. There were multiple metastatic bone lesions and a marked hypercalcemia. The cell population was similar to that found in soft tissue malignant fibrous histiocytoma lesions and comprised undifferentiated cells, fibroblastlike cells, histiocytes, and multinucleated giant cells. Occasional myofibroblasts and transitional cells with histiocytic and fibroblastic components were seen. The histiocytes were characterized by prominent Golgi bodies. Although there were many fibroblastlike cells, the rough endoplasmic reticulum was rarely as extensive or as well organized as in normal fibroblasts. The giant cells did not have the ultrastructural characteristics of osteoclasts, i.e., the clear zones and ruffled borders. Zonula adherens (belt desmosome) junctions were seen, but in general, intercellular junctions were poorly developed as to length and extent.

Adolescent↗

PubMedDate not supplied

Ultrastructural observations on osteosarcoma tissue: a study of 10 cases.

Ultrastructural findings from the cellular, early osteoid regions of 10 osteosarcoma lesions are described. The characteristic features included irregularity in nuclear shape, margination of the chromatin, a large number of nucleoli, normal-sized nuclear pores, undifferentiated cells, poorly differentiated osteoblasts with scanty rough endoplasmic reticulum in annular or lamellar conformation, and malignant osteoblasts characterized by large accumulations of dilated rough endoplasmic reticulum (often in the form of huge anastomosing lakes) and by intracellular filaments. Several of the lesions demonstrated prominent giant cells, most of which were similar ultrastructurally to uninuclear tumor cells rather than to mitochondrialaden giant cells or osteoclasts. Variable amounts of primarily collagenous intercellular matrix were present. Cross-banded collagen fibers with diameters from 30-90 nm were seen as were thinner non-cross-banded fibrils 12-18 nm wide.

Bone Neoplasms↗