Emery-Dreiffus muscular dystrophy: MR imaging and spectroscopy in the brain and skeletal muscle

Emery-Dreifuss muscular dystrophy is a rare disorder characterized by childhood onset of contractures, humeroperoneal muscle atrophy, and cardiac conduction abnormalities. This report presents the cases of two brothers with this dystrophy in whom bilateral hypomyelination of the deep periatrial white matter was noted. In the hypomyelinated regions, a prominent peak centered at 1.5 parts per million was present on short-TE MR spectra likely representing prominence of proteolipids in the macromolecular region. Major peaks (N-acetyl-aspartate, creatine, choline, and myoinositol) were normal. With respect to muscle changes, atrophy of the medial head of the gastrocnemius muscle was noted at MR imaging, and phosphorus spectroscopy of this muscle revealed decreased phosphocreatine and inorganic phosphate peaks.     

Compliance with protocols in transferring emergency patients to a tertiary care centre

STUDY OBJECTIVES: We evaluated compliance with standard patient transfer protocols in a pre- and post-interventional study among patients transferred from other hospitals to our tertiary care university hospital. METHODS: In the first phase, transfer information was recorded on the arrival in 174 consecutive patients transferred to our emergency department (ED) over a 2-month period in 1999. Emergency caregivers throughout the province then received education about proper transfer procedures. This training was provided through monthly citywide co-ordination and co-operation meetings among the physicians of the emergency medical services (EMS) and the emergency departments of the hospitals in the city and the nearby counties. Fifteen months after the beginning of these educational efforts, the second observational phase was implemented. Over a period of 2 months in early 2001, information was recorded from 180 consecutive patients transferred to our ED. Presence of patient medical records, laboratory results, and X-rays; clearly delineated reason for transfer; prior notification of transfer; and appropriate care during transport from the initial facility were the parameters compared in the pre- and post-intervention periods. RESULTS: Patients in phase-II were found to have had more appropriate care in some respects, such as presence of cervical collar and proper airway management, during transport from the initial facility than patients in phase-I (P < 0.05). However, other parameters were not significantly different between the two phases. CONCLUSION: We have concluded that our monthly meetings and conferences have made a positive impact on compliance with some of the standard transfer protocols. We must however, continue our efforts to increase compliance with other aspects of standard patient transfer guidelines.     

Peer review audit of trauma deaths in a developing country

OBJECTIVES: Peer review of trauma deaths can be used to evaluate the efficacy of trauma systems. The objective of this study was to estimate teh proportion of preventable trauma deaths and the factors contributing to poor outcome using peer review in a tertiary care hospital in a developing country. METHODS: All trauma deaths during a 2-year period (1 January 1998 to 30 December 1998) were identified and registered in a computerized trauma registry, and the probability of survival was calculated for all patients. Summary data, including registry information and details of prehospital, emergency room, and definitive care, were provided to all members of the peer review committee 1 week before the committee meeting. The committee then reviewed all cases and classified each death as preventable, potentially preventable, or non-preventable. RESULTS AND CONCLUSION: A total fo 279 patients were registered in the trauma registry during the study period, including 18 trauma deaths. Peer review judged that six were preventable, seven were potentially preventable, and four were non-preventable. One patient was excluded because the record was not available for review. The proportion of preventable and potentially preventable deaths was significantly higher in our study than from developed countries. Of the multiple contributing factors identified, the most important were inadequate prehospital transfer, limited hospital resources, and an absence of integrated and organized trauma care. This study summarizes the challenges faced in trauma care in a developing country.     

A rare presentation of cardiac hydatid cyst: stroke and acute aortic occlusion

Cardiac involvement in hydatid disease is uncommon. We report a case of a surgically treated ruptured left ventricular hydatid cyst, which presented with acute stroke and was later complicated by distal aortic embolism due to perioperative dislodgement of the germinative membrane.     

Infantile fibromatosis of the nose and paranasal sinuses: report of a rare case and brief review of the literature

Infantile fibromatosis is an uncommon, usually cutaneous, nonmetastasizing but locally aggressive fibroblastic proliferation. Involvement of the sinonasal area is extremely uncommon, and only 5 cases have been previously reported. We report a new case, which occurred in a 2-year-old boy. The mass involved the nasal cavity and the paranasal sinuses and extended into the cranial cavity. We also discuss the clinicopathologic features of this lesion, including its ultrastructural characteristics, and we review the literature.     

Head and neck cancer: the pursuit of molecular diagnostic markers

From a histopathologic perspective, head and neck squamous cell carcinoma (HNSCC) is a relatively straightforward diagnosis. However, the clinically useful information presently provided by pathologists is embarrassingly limited. Similarly, our ability to accurately identify the earliest premalignant lesions as well as predict which premalignant lesions are likely to progress to HNSCC is limited. Over the last decade, an explosive growth of knowledge related to the molecular biology of this disease has occurred, which is now being used to address these issues. For example, we now appreciate that there are multiple etiologies and multiple molecular mechanisms responsible for the development of HNSCC. New techniques have improved our ability to identify molecularly premalignant, but histologically benign lesions. Similarly, recent studies have been able to predict which premalignant lesions are likely to progress to HNSCC. In addition to having utility in the realm of early diagnosis, molecular diagnostics may have a profound impact on how we diagnose and report HNSCC. While still in the developmental stage, molecular protocols are being used to evaluate surgical margins, determine the location of unknown primary tumors, identify histologically undetectable lymph node metastasis, and predict which tumors are more likely to respond to a particular postsurgical adjuvant therapy.     

Redistribution of corticotropin-releasing hormone receptor R2 using fluorescence immunohistochemistry in fetal membranes of women delivering preterm or at term

OBJECTIVE: The aim of our study was to determine whether a difference exists in expression of corticotropin-releasing hormone receptor-R1 (CRH-R1) and corticotropin-releasing hormone receptor-R2 (CRH-R2) in fetal membranes of preterm and term women with or without labor. MATERIAL AND METHODS: Small pleces of fetal membranes were obtained from the placenta of each of forty patients undergoing cesarean section. Ten samples each were taken from preterm and term patients, with and without labor. Antibodies against CRH-R1/2 and CRH-R2 were used for localization by conventional fluorescence immunohistochemistry. The evaluation of staining was based on examination of the entire histologic section by three independent observers. RESULTS: In women at term without labor, CRH-R2 receptor was predominantly expressed in the amniotic epithelium and the amniotic mesenchyme. In laboring women at term, the expression of CRH-R2 receptor was shown in the chorionic mesenchyme and the cytotrophoblast cells, but no specific staining could be detected in the amniotic membranes. Changes in CRH-R2 receptor expression could not be demonstrated during preterm labor of early pregnancies. In preterm women, the antibody against CRH-R1/2 receptor detected additional signals in the amniotic mesenchyme and epithelium, suggesting expression of CRH-R1 in these tissues. In women at term, the overlapping pattern of CRH-R1/2 was recognized in both the chorionic and amniotic mesenchyme, in contrast to the specific CRH-R2 staining, suggesting expression of CRH-R1 in the mesodermal cell compartments. CONCLUSION: At term, changes in CRH-R2 expression are directly related to the progression of normal labor; such changes were not observed during preterm labor of early pregnancies. The increased CRH-R2 expression in the chorionic mesenchyme may possibly provoke rupture of the membranes or at least play a role in some key regulatory events in the initiation of normal labor. The fact that this mechanism does not occur in preterm labor strengthens the hypothesis that onset of labor could be controlled by distinct mechanisms in preterm and term pregnancies.     

Blunt abdominal trauma in sports

Abdominal injuries are rare in sports, but when they do occur it is important that the physician recognize the warning signs of potentially life-threatening injury to the liver, spleen, or hollow abdominal viscera. Though the sports medicine physician may not always provide definitive treatment of many of these conditions, he or she should be familiar with the preferred diagnostic modalities and latest treatment options. This information is not only essential to appropriately participate in treatment decisions, but is also important in order to make return-to-play determinations.