The diagnosis of skeletal dysplasias: a multidisciplinary approach

Skeletal dysplasias are heritable connective tissue disorders affecting skeletal morphogenesis and development. They represent a heterogeneous group of genetic disorders with more than 200 different entities being delineated to date. Because of this diversity, the diagnosis of a skeletal dysplasia is usually based on a combination of clinical, radiographic, morphologic, and, in some instances, biochemical and molecular studies. Tremendous advances have been made in the elucidation of the genetic defect of several of these conditions over the past 10 years. This progress has provided us with more insights into the genes controlling normal skeletal development. It also has opened new diagnostic perspectives. For several disorders, identification of the causal gene allows us now to confirm with a molecular test the diagnosis postulated on the basis of clinical, radiographic and/or morphologic studies. It also enables us to establish the diagnosis early in pregnancy. An accurate diagnosis is not only important for proper management of the affected individual but also the cornerstone for adequate genetic counseling.     

Challenging cases in thyroid cancer: a multidisciplinary approach

Recurrent thyroid cancer can present many complex management problems. Unfortunately, recurrent thyroid cancer is often refractory to radioiodine therapy. The proper use of external beam irradiation and surgical interventions can provide regional control of localized recurrences. Because of the complex nature of these patients, a multidisciplinary team approach to management which includes specialists in thyroid medicine and surgery, head and neck radiotherapy, and nuclear medicine often is required to provide individualized, optimal multimodality treatment recommendations. In this article we review a multidisciplinary team approach to a patient with widespread, radioiodine-refractory bone metastases from follicular thyroid cancer and to a patient with unresectable central neck recurrence of papillary thyroid cancer.     

Actinomycosis--a multidisciplinary approach to a clinical problem

Actinomycosis is caused by microorganisms of the Actinomyces species, found in the oral cavity, gastrointestinal and genital tract. Infection by Actimomyces species mainly causes chronic supurative disease of the oral, cervico-facial, thoracic, and abdominal regions. Clinical manifestations have been described at every level, but the disease is relatively rarely diagnosed. The causative agent is considered to be an opportunistic pathogen associated with infection, trauma, surgical procedures, or associated with a neoplasm or foreign body. Symptoms include intermittent fever, weight loss, abdominal or thoracic pain, pseudotumor and tumor masses, and local symptoms from the infected area. Pseudotumor and tumor masses are diagnosed by ultrasonography and computerized tomography. The diagnosis is confirmed by the presence of a causative agent in biopsy or surgically acquired samples. The treatment includes the administration of high doses of antibiotics (penicillin, amoxicillin, ceftriaxone) for at least 6-12 months, as well as surgical treatment. Penicillin is a drug of choice. This infection is often polymicrobial, so that antibiotic therapy should include agents that act against the associated pathogens. Treatment outcome and prognosis in these three cases were excellent, despite the prolonged course of the extensive disease.     

Tackling impostor syndrome: A multidisciplinary approach

What is Imposter Syndrome, whom does it affect, and when, and why is it important to recognize? In this multidisciplinary article, the phenomenon is defined and discussed by a psychiatrist, followed by strategic advice by a radiologist, interventional radiologist and radiation oncologist.     

A fatal brain injury caused by a needlefish

Summary A traumatic internal carotid-cavernous sinus fistula due to a penetrating injury caused by a needlefish is described.     

A fatal impaling injury in a road traffic accident: a case report

A 17-year old, thin-built male was sitting in a bus on the right side of the rear seat. The same side of the bus accidentally hit some iron rods, meant for construction work, projecting from the tail end of a small truck. The incident happened when the bus driver tried to manoeuvre the bus towards the left side of the truck, standing at a red traffic light intersection. One of the iron-rods entered the bus through the glass window next to which the victim had been sitting and penetrated his chest cavity from the side, lacerating both the lungs and exiting through the left shoulder blade. The individual died on his way to hospital.     

Lung cancer: multidisciplinary approach to tissue sampling

Diagnostic confirmation through tissue sampling plays a central role in managing patients with suspected lung malignancy. Tissue samples may be obtained in various ways using bronchoscopy, computed tomography guidance, or surgery. Multidisciplinary discussion between members of the lung cancer care team is helpful in assessing the appropriateness of sampling and the best place to sample that would establish both the diagnosis and the correct stage of the disease in a safe manner.     

Large renal leiomyoma: A multidisciplinary approach to diagnosis

We report the case of a 45-year-old woman who presented with a large palpable abdominal mass. Initial sonographic and computed tomographic studies prompted a differential diagnosis of retroperitoneal or renal sarcoma, leiomyoma, and lipid-poor angiomyolipoma. A final diagnosis of renal leiomyoma was reached based on a consensus among radiology, surgery and pathology. In addition to reviewing the features of this entity, this case demonstrates the process of developing a working diagnosis, narrowing the differential as zadditional testing is performed and establishing a final diagnosis with interdepartmental coordination. Despite the rarity of this condition, the ability to recognize and apply imaging features to differentiate between abdominal masses of unknown origin is important for clinicians and researchers.     

HIV care in the U.S. Navy: a multidisciplinary approach

We provide a review of the medical care provided to human immunodeficiency virus (HIV)-positive service members in the U.S. Navy and Marine Corps. An overview of the history of HIV and its impact on the U.S. Navy is presented. We also explain the policies of mandatory HIV testing within the U.S. Navy and the evaluation process for those found to have HIV infection. We specifically describe the multidisciplinary HIV medical care provided at Naval Medical Center San Diego, which is one of three HIV specialty clinics within the U.S. Navy.     

Forensic approach of fatal dog attacks: a case report and literature review

Over 1 million dog bites occur every year in the USA, however, fatal dog bites are rare and mostly affect children under 4 years of age and old people. Usually pet dogs are involved and only recently has public awareness of this health problem increased. As an example of a forensic approach we present the case of a 6-year-old girl who was killed by the three pet Rottweilers of her father. The present report includes the investigation of the death scene, the autopsy findings and the results of the examination of the dogs. Dog bite wounds in this case typically were limited to the head and neck regions and classic features of these wounds have been described in various studies. We emphasise the particulars of canine dental features, discuss the resulting bite wounds and, reviewing the literature, try to come up with a strategy for prevention.     

Nutritional evaluation of a sailing crew during a transatlantic race

Few studies describe the nutritional status of people in stressful situations and with limited access to food. We assessed the dietary intake and serum indices of nutritional status in a sailing crew ( n = 14) during a transatlantic race and in a control group ( n = 11 males). The crew's mean energy intake was 13.3 MJ/d. In both groups, the intake of retinol, thiamin, riboflavin, vitamin C, calcium and iron was sufficient but the intake of vitamin B₆, magnesium and zinc rather low. In sailors, serum HDL cholesterol was higher before the race (1.61 mmol/l; 95% confidence interval: 1.44–1.69) than after it (1.34 mmol/l; 1.26–1.43). Serum calcium, potassium, magnesium, ferritin, zinc, and selenium concentrations did not indicate nutritional deficiency in either group.     

Exertional Rhabdomyolysis during a 246-km continuous running race

BACKGROUND: To evaluate the effect of continuous, moderate-intensity ultra-endurance running exercise on skeletal muscle and hepatic damage, as indicated by serum enzyme activity measured immediately following the race. METHODS: Thirty-nine runners of the Spartathlon race (a 246-km continuous race from Athens to Sparta, Greece) who managed to complete the race within the 36-h limit participated in this study. Mean finishing time of the study participants was 33.3+/-0.5 h and their average age, height, and body mass were 41+/-1 yr, 174+/-1 cm, and 67.5+/-1.1 kg, respectively. Blood samples, taken a day before and immediately after completion of the race, were assayed for the following variables: creatine kinase (CK), lactate dehydrogenase (LDH), aspartate aminotransferase (AST), alanine aminotransferase (ALT), and gamma-glutamyltransferase (gamma-GT). RESULTS: A dramatic increase in most of muscle and liver damage indicators was observed. The mean values for CK, LDH, AST, and ALT after the race were 43,763+/-6,764, 2,300+/-285, 1,182+/-165, and 264+/-37 IU.L, respectively. These values were 29,384+/-4,327, 585+/-89, 5,615+/-902, and 1,606+/-331% higher than the corresponding values before the race (P<0.001) for CK, LDH, AST, and ALT, respectively. However, there was not a significant increase in gamma-GT levels. CONCLUSION: Muscle and liver damage indicators were elevated at the highest level ever reported as a result of prolonged exercise, although no severe symptoms that required hospitalization were observed in any of the participants. The data suggest that even moderate-intensity exercise of prolonged duration can induce asymptomatic exertional rhabdomyolysis.     

Death in custody in Spain: Excited delirium syndrome. Importance of a multidisciplinary approach

This article aims to analyse the excited delirium syndrome, especially, when Law Enforcement Officers have to make use of force and deaths in custody occur. Through a bibliographic review, inferences have been obtained to identify, in first place, what a death in custody is and the differences between positional asphyxia and excited delirium syndrome. Subsequently, we have summarized the major findings that the medical examiner should look for in order to diagnose the excited delirium syndrome from the scene examination, the autopsy and the complementary analysis. Finally, we propose some directives that may help to avoid the death of these subjects and to study them in case they occur.