Hemophagocytic syndrome: an underestimated cause of the syndrome of non-infectious fever?]

The effects of two ethanol doses (2 and 3 g/kg) on colonic temperature and levels of norepinephrine (NE) and uncoupling protein (UCP) mRNA in the interscapular brown adipose tissue (IBAT) were examined in rats exposed to 20 degrees C or 4 degrees C for 2 h. The controls received 0.9% NaCl solution. Ethanol produced a significant hypothermic effect versus saline at both temperature conditions. The dose at 3 g/kg reduced colonic temperature more in the cold than at room temperature (p < 0.01), whereas the ambient temperature did not affect the decrease in rats that received ethanol 2 g/kg. At room temperature ethanol did not significantly change the levels of NE or UCP mRNA, whereas after cold exposure (4 degrees C) NE levels in the ethanol-treated rats were significantly lower than in the controls (p < 0.001). Ethanol did not prevent a cold-induced increase in the UCP mRNA levels, although it reduced an increase. The magnitude of the reduction in increase was dependent on the dose, being significant at the dose of 3 g/kg (p < 0.05). The results show that the ethanol-induced drop in body temperature is not necessarily related to IBAT thermogenesis, as indicated by the levels of NE and UCP mRNA.     

Hemophagocytic syndrome and T-cell lymphoma after kidney transplantation: a case report

Lymphoma in immunocompromised transplant patients is a feared cause of morbidity and mortality. Superimposed on the lymphoma and the transplantation immunosuppression is a rare condition: hemophagocytic syndrome (HS). HS is characterized by fever, hepatosplenomegaly and lymphadenopathy, skin rashes, jaundice, coagulopathy, and phagocytosis of blood elements with pancytopenia. Here we describe a rare but fatal case of a kidney transplant patient who developed T-cell lymphoma and HS, without evidence of EBV replication. A short review of the diagnosis, treatment, and prognosis of HS is given.     

Early diagnosis and pitfalls in diagnosis of aseptic bone necrosis in divers

The purpose of this presentation is to define the criteria by which it is possible to make an early definitive radiological diagnosis of the bone lesions of dysbaric osteonecrosis in divers, and to define the common pitfalls in making such a diagnosis.     

Clinical diagnosis of enamel defects: pitfalls and practical guidelines

The three-vessel view is a transverse view of the fetal upper mediastinum is as simple to obtain as the four-chamber view. It demonstrates the main pulmonary artery, ascending aorta and superior vena cava in cross- or oblique sections. The purposes of this study were to describe the normal anatomy of the three-vessel view and to analyze what anatomical changes would occur in this view when there are lesions of the ventricular outflow tracts and/or great arteries. Sonograms of 29 fetuses with lesions involving the ventricular outflow tracts and/or great arteries were reviewed. Three-vessel views were evaluated in terms of vessel size, number, arrangement and alignment. Twenty-eight of 29 fetuses showed an abnormal three-vessel view that included abnormal vessel size (n = 12), abnormal alignment (n = 8), abnormal arrangement (n = 7) and abnormal vessel number (n = 3). The vessel size was abnormal in obstructive lesions of the right (n = 4) or the left (n = 8) side of the heart. An abnormal alignment was seen in tetralogy of Fallot (n = 6) and double-outlet right ventricle (n = 2) that showed anterior displacement of the aorta. An abnormal arrangement was seen in complete (n = 4) and corrected (n = 1) transposition, double-outlet right ventricle (n = 1) and pulmonary atresia with ventricular septal defect (n = 1). Only two vessels were seen in truncus arteriosus (n = 1). Four vessels were seen in persistent left superior vena cava (n = 2). A fetus with pulmonary atresia and intact ventricular septum showed a normal three-vessel view. In conclusion, most of the lesions involving the ventricular outflow tracts and/or great arteries showed an abnormal three-vessel view.     

Hemophagocytic syndrome in five patients with Epstein-Barr virus negative B-cell lymphoma

BACKGROUND: The recent recognition of the association of Epstein-Barr virus (EBV) with T-cell/natural killer cell (T/NK-cell) lymphoma has documented that particular types of EBV-containing T/NK-cell lymphoma are frequently complicated by hemophagocytic syndrome (HPS). This observation suggests that both EBV and proliferating T/NK-lymphoma cells play significant roles in the development of HPS. Cytokines released from neoplastic T cells are presumed to account for the activation of macrophages, which is followed by a complex cascade of cytokine production, resulting in full-blown HPS. Five patients with B-cell lymphoma complicated by HPS were studied for elevated serum cytokines, the association of EBV, and CD25 expression of lymphoma cells; the aim of this study was to verify whether the mechanisms of HPS development hypothesized for T/NK-cell lymphoma also operate in B-cell lymphoma. METHODS: Sera were analyzed for the presence of inflammatory and immunoregulatory cytokines. Flow cytometry, immunohistology (IH), in situ hybridization (ISH), polymerase chain reaction (PCR), and Southern blot analysis were performed using bone marrow aspirates, biopsy specimens, and autopsy specimens. RESULTS: Immunophenotypic and Southern blot studies verified that the lymphoma cells of all five patients were of B-cell lineage. Bone marrow aspirates demonstrated histiocytosis with extensive hemophagocytic activity. Marked elevation of serum cytokines and expression of CD25 were observed in all five patients. However, the results of PCR, ISH using EBER1 probe, and IH for latent membrane protein indicated that these lymphoma cells were free of EBV infection. CONCLUSIONS: In patients with B-cell lymphoma, EBV infection is not necessarily required for the initiation of HPS. In this article, the pathogenesis of HPS assumed to be operative in B-cell lymphoma is discussed with reference to T/NK-cell lymphoma complicated by HPS.     

Potential pitfalls in the work-up and diagnosis of choanal atresia

To increase an awareness of the developmental anatomy of the nasal cavity as it applies to the radiologic work-up of choanal atresia and frontoethmoidal cephaloceles, we report two cases that demonstrate potentially serious imaging pitfalls. Two neonates with nasopharyngeal obstruction were imaged with CT and MR. Both patients had surgically proved bilateral bony choanal atresia. In addition to choanal atresia, CT showed a radiolucent, or nonossified cribriform plate and mucoid secretions within the nasal fossa, adjacent to the cribriform plate, which approximated the attenuation of brain parenchyma. In one of the patients, a preoperative diagnosis of nasopharyngeal encephalocele resulted in surgical exploration. At surgery, however, the cartilaginous cribriform plate was found to be intact.     

Beckwith-Wiedemann syndrome: antenatal diagnosis

The Beckwith-Wiedemann syndrome is an unusual complex with variable features. The major findings include abdominal wall defects, macroglossia and visceromegaly. These features should be amenable to antenatal ultrasound detection. Only a few such cases have been reported to date. Antenatal diagnosis allows optimum perinatal care. Hypoglycaemia in the neonatal period is common in these babies and requires early detection and appropriate management to prevent long-term intellectual complications. We present a case where the diagnosis was suggested prior to delivery.     

Squamous cells in fine-needle aspiration biopsies of salivary gland lesions: potential pitfalls in cytologic diagnosis

A spectrum of neoplastic and non-neoplastic lesions of the salivary glands may contain squamous cells. These include chronic sialadenitis, lymphoepithelial cyst, pleomorphic adenoma, Warthin's tumor, mucoepidermoid carcinoma, and squamous cell carcinoma. The squamous cells may be a defining feature of the lesion, or an occasional and thus unexpected finding, with a consequent potential for misdiagnosis. Clinical management of these lesions differs significantly, and careful evaluation of the squamous elements, along with attention to other cellular and background components, facilitates accurate diagnosis.     

Premenstrual syndrome: diagnosis and intervention

Premenstrual syndrome (PMS) is a recurrent disorder that occurs in the luteal phase of the menstrual cycle. It is characterized by intense physical, psychologic, and behavioral changes that interrupt interpersonal relationships and disrupt the lives of affected women. Up to 40% of women of childbearing age have some form of PMS, and up to 10% have severe signs and symptoms. There are at least four types of PMS, each with its own constellation of signs and symptoms. Related illnesses or illnesses that need to be ruled out include diabetes mellitus, thyroid dysfunction, hypoglycemia, and primary and secondary dysmenorrhea. Difficulty in identifying the exact etiology of the disorder is documented. Diagnostic issues include confusion over exact signs and symptoms, differential diagnoses, pertinent laboratory data, careful history taking, and the importance of women recording a menstrual cycle history on a calendar. Recommended first-line treatments include a diet low in salt, fat, caffeine, and sugar; an aerobic exercise regimen; and stress reduction via changes in lifestyle.     

Radial tunnel syndrome: diagnosis and management

PURPOSE: To present the first documentation of iris retraction syndrome in eyes with nonrhegmatogenous retinal detachment. PATIENTS AND METHODS: One patient with age-related macular degeneration and another with panuveitis developed exudative retinal detachment with iris retraction configuration. Ultrasound biomicroscopy was performed to investigate the anatomic relationship of structures in the anterior segment of the eye. RESULTS: Ultrasound biomicroscopy demonstrated a severe backward bowing of the peripheral iris with irido-ciliary body and irido-zonular contact as well as broad iris lens touch. The iris retraction syndrome resolved after pupil dilation and disruption of the pupillary adhesions in both cases. The retinal detachment resolved several months later, without surgery. CONCLUSION: Iris retraction syndrome appears not to be exclusive to rhegmatogenous retinal detachment but can present in eyes with exudative - nonrhegmatogenous retinal detachment. Thus, when the configuration of the iris shows bowing in patients with retinal detachment, iris retraction syndrome should be considered and prompt pupil dilation should be carried out.     

Beckwith-Wiedemann syndrome: difficulties with prenatal diagnosis

The characteristics of the midsole were examined in four pairs of running shoes by a materials test. The variables of interest were the peak acceleration, time to peak acceleration and the kinetic energy absorbed. Ten subjects then ran at a recreational jogging pace (3.5 ms-1) barefoot and in the shoes. An accelerometer secured to the lower tibia was used to measure the peak acceleration and time to peak acceleration associated with footstrike. Subjects were also videoed and a kinematic analysis was undertaken at the knee and ankle joints. The results from the materials test showed that the shoes differed in their midsole characteristics, however, no significant differences (P > 0.05) were observed in the peak acceleration and time to peak acceleration during running in shoes. These variables were significantly greater in the barefoot running condition (P < 0.05), as compared with running in shoes. Small and subtle kinematic differences were observed between the barefoot and shoe conditions. It appears that the differences observed between the shoes in the materials test were not sufficient to elicit the kinematic changes observed between the barefoot and shoe conditions. It is suggested that runners operate within a 'kinetic bandwidth' when responding to impact stresses.     

Premenstrual syndrome: diagnosis and treatment experiences

We sought to examine the diagnosis and treatment experiences of women in the United States who reported having been diagnosed with premenstrual syndrome (PMS) by a physician. A survey of 220 women, randomly selected, ages 26-56, who subscribed to a woman's health newsletter and reported being given a diagnosis of PMS by a physician was conducted. Subjects reported (1) they sought medical help for 5.33 +/- 6.23 years before receiving a diagnosis, (2) they sought help from 3.75 +/- 3.22 physicians for PMS symptoms, (3) they thought the majority (71%) of physicians they used were not adequately informed to diagnose and treat them, (4) only a minority (23%) of physicians used a symptom chart, currently the only way to confirm a PMS diagnosis, when determining their diagnosis, and (5) only approximately 1 in 4 (26%) physicians provided them with a helpful treatment. Seventy-six percent of subjects reported that a PMS diagnosis resulted from their own suggestion, with an agreement by the physician. Eighty-one percent reported that the initial suggestion of PMS came from a non-medical source. The most commonly recommended and used treatments were vitamins, exercise, and diet modification. Current treatment satisfaction was 15.6% not very satisfied, 48.8% somewhat satisfied, and 35% very satisfied. Satisfaction was higher if natural progesterone or hysterectomy with oophorectomy was included as a treatment, although a high percentage of satisfaction was seen with several treatments. Data indicate that physicians from whom most of the women sought care between 1974 and 1994 failed to recognize, diagnose, or treat their PMS using the standards and protocols published in the medical literature.     

Marfan syndrome: diagnosis of cardiovascular manifestations]

BACKGROUND: Despite the availability of several different markers for Epstein--Barr virus (EBV) serology, the EBV status of some patients cannot be resolved from a single serum sample with routine testing. To avoid the requirement of follow-up samples, supplementary tests have to be used in these cases. OBJECTIVE: To evaluate the usefulness of avidity and immunoblot assays as supplementary tests for the diagnosis of acute EBV infections. STUDY DESIGN: Three groups of samples for which a definite diagnosis on the EBV status could not be obtained with the routine serological tests were further examined by an EBV IgG avidity assay, by an immunoblot based on a lysate of EBV infected cells, and by a second immunoblot based on recombinant EBV antigens. The three groups consisted of 38 samples with negative/borderline EB nuclear antigen 1 (EBNA-1) antibodies, negative/borderline EBV IgM and positive EBV IgG; 10 samples with indeterminate EBNA-1 and/or EBV IgM assays because of control antigen reactions; and 4 samples with positive EBV IgM results that were not plausible. RESULTS: The avidity assay differentiated between acute and past infections for all samples. In contrast, some cases remained unresolved with both the recombinant and the lysate immunoblot. Two samples were incorrectly classified with the lysate immunoblot. Interpretation of the lysate immunoblot banding patterns was complicated when anticellular antibodies were present. CONCLUSION: Avidity testing appears to be the confirmatory method of choice to differentiate between acute and past EBV infections.     

Fryns syndrome: prenatal diagnosis and pathologic correlation

From 1988 to 1995, 96 patients (161 feet) underwent a modified Mitchell distal metatarsal osteotomy performed for mild-to-moderate hallux valgus. On AP x-rays of the standing foot, the average intermetatarsal angle was corrected from 15 degrees to 9 degrees, and the first metatarsophalangeal angles were corrected from an average of 41 degrees to 15 degrees. Criteria for evaluation of clinical results included relief of pain, appearance of foot, and shoe wear. After an average follow-up of 38 months, the overall satisfaction rate was 92.5%. Complications included 13 pin tract infections, two delayed unions, and two correction losses. The most common late sequela was transfer metatarsalgia of the lesser toes, which occurred in 20 feet (12.4%), leading to some dissatisfaction. The Mitchell osteotomy can be used on cases with less than 20 degrees of intermetatarsal angle, offering a stable construct with easy postoperative care.     

Forearm fractures in children: pitfalls and complications

Five hundred fourty-seven consecutive forearm fractures in children were studied, with special emphasis on complications encountered. The most important apparent conclusion reached from this study is that greenstick and complete fractures are different, and that some of the pitfalls and complications seen following these injuries can be avoided if different methods of reduction are used for each. Greenstick fractures should be reduced by manipulating them into the correct proper plane of rotation; i.e., maximum pronation for distal third fractures, neutral for middle third fractures, and supination for proximal third fractures. Application of this familiar "rule of thirds" to complete fractures, however, may result in ratational deformity at the fracture site. Completer fractures should be reduced by finger trap traction, allowing the fracture to seek its own level of rotation. Several other observations were also noted. Angulation into radial deviation was found to remodel and equally as well as volar angulation, and remodeling may contine for as long as two years after injury. Growth disturbance following fractures through the distal radial epiphyseal plate is uncommon, but premature closure of the epiphysis did occur in one patient with a typical Type II fracture. Six concomitant nerve injuries were seen; all recovered spontaneously within 3 weeks.     

Preimplantation genetic diagnosis in Marfan syndrome

Melanoma has a better prognosis in women than in men, may be exacerbated by pregnancy, and has been to reported to respond to hormonal manipulations. Laboratory investigations have demonstrated that both animal and human melanomas may respond to changes in the hormonal milieu. Steroid hormone binding activity has been demonstrated in some human melanomas, but only a small percentage of melanomas respond to hormonal manipulation. Randomized trials suggest a possible role for tamoxifen in combination with chemotherapy for metastatic melanoma and for megestrol acetate as an adjuvant. Nevertheless, it appears that the use of steroid hormones in the management of melanoma is limited.