The ACTN3 R577X polymorphism is associated with inflammatory myopathies in a Mexican population.

BACKGROUND: The ACTN3 gene encodes the fast muscle protein α-actinin-3. The ACTN3 R577X polymorphism is a premature stop codon and results in absence of α-actinin-3 in 577XX homozygotes. The aim of this study was to determine the ACTN3 genotype in idiopathic inflammatory myopathies (IIMs). METHODS: We performed ACTN3 genotyping on 27 patients with dermatomyositis (DM), 10 with polymyositis (PM), and 85 healthy subjects. Muscle enzyme levels of creatine phosphokinase (CPK), lactic dehydrogenase (LDH), aspartate aminotransferase (AST), and alanine aminotransferase (ALT) were recorded at the time of diagnosis and recruitment. Genotyping was performed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and the allele frequency was analysed. RESULTS: A total of 36% of healthy subjects had the ACTN3 577XX polymorphism (α-actinin-3 deficiency), 18% had the 577RR (homozygous wild type) genotype, and 46% 577RX (heterozygous). In DM/PM, 70% had the ACTN3 577XX polymorphism, 6% RR, and 24% RX [odds ratio (OR) 4.12, 95% confidence interval (CI) 1.67-10.33, p < 0.001]. In healthy subjects, the R allele was present in 41% and the X allele in 59% compared to 18% and 82%, respectively, in the IIM group (OR 3.21, 95% CI 1.57-6.66, p < 0.001). Thus, the ACTN3 577X allele seemed to increase the risk of developing IIM, and DM in particular, although this was not related to severity of expression of the phenotype. CONCLUSIONS: The ACTN3 577X allele appeared to increase the risk of developing IIM; 70% of IIM patients were deficient in α-actinin-3. By contrast, ACTN3 577XX patients seemed to have less severe disease as reflected in lower muscle enzyme levels.

Recurrent and aggressive chondroblastoma of the pelvis with late malignant neoplastic changes.

A case of chondroblastoma involving the left ischium, lower wing of left ilium and inferior ramus of left pubis is presented. The tumor showed aggressive features and repeated recurrences over a 30-year period and ultimately developed the cytologic features of a malignant neoplasm. However, no metastases have developed.

Localized oxalosis associated with simultaneous Aspergillus and Mucor infection in diabetic foot gangrene.

A case of simultaneous aspergillosis and mucormycosis complicating diabetic foot gangrene is reported. The recognition of this combined opportunistic fungal infection was brought about by an initial finding of birefringent calcium oxalate crystals associated with a background of acute inflammatory exudate, which is considered a strong clue to the diagnosis of infection caused by Aspergillus niger.

Trichosporon beigelii endocarditis as a complication of peritoneovenous shunt.

Trichosporon is a common cause of superficial mycotic infection but has rarely been associated with endocarditis. The case of a patient who had a peritoneovenous shunt for chronic intractable ascites due to Laennec liver cirrhosis is described. The shunt was revised on several occasions, and the last procedure was complicated by a draining skin sinus wound. To the authors' knowledge, this is the first reported case of Trichosporon endocarditis complicating a peritoneovenous shunt.

Mirror-image tumors in mirror-image twins.

Genetic factors are known to play a role in causing lung cancer. Twin cases of bronchioloalveolar, squamous, and anaplastic bronchogenic carcinoma have been previously reported. We describe mirror-image twins with adenocarcinoma of the lung occurring in mirror-image locations. They shared smoking and an occupational risk, carpentry, in addition to identical genetic backgrounds.

Lipomatous hypertrophy of the cardiac interatrial septum. A report of 38 cases and review of the literature.

Thirty-eight cases of lipomatous hypertrophy of the cardiac interatrial septum are presented and analyzed, together with those previously reported. Available data indicate that this entity is more likely to be seen in the seventh to eighth decade of life, in Caucasians, and with age-associated increases of epicardial fat. It differs from cardiac lipoma, which is a true neoplasm occurring in a younger age group. It is probably more frequent than reported as it is usually not looked for. Atrial arrhythmias sometimetimes coexist with this lesion, but a cause-and-effect relationship would be difficult to prove. The lesion should be included in the differential consideration of atrial masses found by ultrasound, cineangiocardiogram, and gated radionuclide cardiac imaging.

Fine-needle aspiration biopsy of adrenal masses in patients with extraadrenal malignancy.

BACKGROUND: Reports evaluating the efficacy of fine needle aspiration (FNA) of the adrenal gland have suggested a possible correlation between size of an adrenal mass and the presence of a primary or metastatic malignancy. These studies have focused on FNAs of all adrenal gland masses regardless of clinical history. This study investigates this relationship in a subpopulation of patients with a known history of primary extraadrenal malignancy. METHODS: All patients who have undergone computed tomographic-guided FNA biopsy of an adrenal mass at Loyola University Medical Center and Hines Veterans Administration Hospital, from 1985 to 1991, were reviewed. RESULTS: If size was assumed to be an independent predictor for presence of metastases, the highest efficiency was obtained with a cutoff value of 3 cm. This value divided the group into 15 (42%) "low-risk" (< or = 3 cm) and 21 (58%) "high-risk" (> 3 cm) subjects. In the "low-risk" group, 87% of the masses (13 of 15) were benign and 13% (2 of 15) were malignant. Within the "high-risk" group, more than 95% of the masses (20 of 21) were malignant, with a single (5%) benign case (p < 0.05). CONCLUSIONS: There is a significant correlation between the size of an adrenal nodule and the presence of metastases in patients with a known primary extraadrenal malignancy. Nodules greater than 3 cm have a very high probability of involvement by metastatic tumor. Nodules 3 cm or smaller are usually benign, but metastatic tumor can still be found in up to 13%. FNA biopsy is useful in evaluating adrenal masses in this setting.

Spermatic cord liposarcoma.

The clinical and pathologic data in 3 cases of well-differentiated liposarcoma of the spermatic cord are presented. Radical orchiectomy appears to be adequate treatment. A regional lymph node dissection is usally not advocated since the pattern of spread is hematogenous.

Wilms tumor in adults.

Wilms tumor rarely occurs during adult life. We have found 197 such cases reported in the world literature. However, there are some controversies whether all of these are true Wilms tumors or rather a variety of adenocarcinomas or sarcomatoid renal cell carcinoma. We report here 2 additional cases of well-documented Wilms tumors in adults.

Paecilomyces peritonitis: case report and review of the literature.

While filamentous fungi are a rare cause of peritonitis in peritoneal dialysis patients, there is increasing recognition of Paecilomyces species as pathogens in such patients. We herein report a case of fungal peritonitis secondary to the filamentous Paecilomyces variotii species. The patient had a long and ultimately fatal course of illness despite catheter removal, discontinuation of peritoneal dialysis, recurrent intraabdominal abscess drainage, and prolonged courses of antifungal therapy. Our experience with this case and a review of the literature suggests that infection with this fungus can cause substantial morbidity and is probably best treated with prompt catheter removal, aggressive antifungal therapy and vigilant observation for complications.

Xanthogranulomatous cholecystitis: report of seven cases.

Seven cases of xanthogranulomatous cholecystitis collected over a 16-year period are reported. Their clinical presentation is that of a conventional chronic inflammatory gallbladder disease. Sometimes a mass lesion is mimicked radiographically and during surgery. The distinctive tissue reaction and cholesterol content of the lesion are emphasized in this study. Chronic infection and concurrent calculi have been implicated in the pathogenesis.

Primary tumors of the small intestine.

Seventy-two malignant and 19 benign tumors were seen at the Veterans Administration Hospital, Hines, Illinois, from 1950 to 1976. Of these, 44 malignant and 14 benign tumors were seen in the clinical setting--the remainder were found at autopsy. Carcinoid tumors were the most common malignant tumors, followed by adenocarcinoma, lymphoma and leiomyosarcoma. Patients with malignant tumors usually presented with abdominal pain, vomiting and weight loss. The most common clinical signs were anemia, abdominal tenderness and abdominal distention. The most useful diagnostic tests were upper GI series and plain x-ray of the abdomen. Twenty-one (50%) five year survivals and 14 (33%) ten year survivals were obtained with small bowel malignancies. The majority of the five and ten year survivals were patients who had carcinoid tumors and lymphoma. Various theories on the causation of small bowel malignancies are discussed.

Subcutaneous blastomycosis: diagnosis by fine-needle aspiration cytology.

Blastomycosis is a rare disease. Fine-needle aspiration of nodules and neck masses is generally well accepted for head and neck cancer. This method has recently been used to make a rapid diagnosis of blastomycosis so that therapy could be instituted before the usual 4 to 6 week delay that is necessary for fungal cultures to mature. We believe this technique is reliable, provided the services of an experienced cytopathologist are available. The current treatment for blastomycosis is amphotericin B or ketoconazole, though newer antifungal agents hold promise for the treatment of this disease in the future.

Production of a rabbit anti-cockatiel immunoglobulin G and characterization of its cross-reactivities with immunoglobulin G of other psittacine species.

The purpose of this work was to produce rabbit anti-cockatiel immunoglobulin G (IgG) and compare its cross-reactivity with sera from eight other psittacine birds: Quaker parakeet, budgerigar, green-wing macaw, blue-fronted Amazon parrot, eclectus parrot, African grey parrot, Patagonian conure, Moluccan cockatoo. Cockatiel IgG did not bind to protein A or G; therefore, these proteins could not be used in column chromatography to isolate the IgG. A combination of serum IgG precipitation by ammonium sulfate and yolk IgG extraction from egg was loaded in sodium dodecyl sulfate-polyacrylamide gel upon which the IgG was resolved by electrophoresis. The resolved IgG in sodium dodecyl sulfate-polyacrylamide gel was stained with Coomassie blue, cut, crushed in phosphate-buffered saline, and injected into rabbits. The rabbit anti-cockatiel IgG produced in this way reacted with a single protein in gel immunodiffusion assay with all nine psittacine bird sera but not with those of chicken and ostrich. Immunoelectrophoresis confirmed the cross-reactivity of different psittacine sera with the anti-cockatiel IgG serum but not with ostrich and chicken sera. This antiserum detected antibody responses in sera from cockatiels vaccinated against chlamydial major outer membrane protein in an immunoblot assay.

Multivesiculated macrophages: their implication in fine-needle aspiration cytology of lung mass lesions.

Alveolar macrophages are almost invariably present in percutaneous fine-needle aspiration cytology of the lung. They may predominate, appear foamy and finely vesiculated, or may reflect the cellular composition of the lung mass lesion. In a review of 172 cases of "negative for malignant cells" from the percutaneous lung fine-needle aspiration cytology file in an 8-year period at Hines VA Hospital, the vacuolated macrophages were evaluated qualitatively and quantitatively. Among the 53 cases (34%) showing vacuolated macrophages, only 5-25% of the cells were multivesiculated, the cytoplasmic vacuoles were few, focal, and occasionally global, and the majority of the vacuolated macrophages contained anthracotic or hemosiderin pigments. One case exhibited striking multivesiculation in at least 95% of macrophages and also in bronchial and alveolar cells, fibroblasts, and endothelial and inflammatory cells, a finding consistent with amiodarone toxicity (index case 1). The diagnosis was confirmed on subsequent transbronchial lung biopsy. In another patient with clinical HIV infection, the multivesiculation was also seen in 95% of the macrophages with associated acute inflammatory exudate, coccobacilli, and a positive culture for Rhodococcus equi (index case 2). In most cases, the vacuolated macrophages are reactive and inflammatory. Occasionally, as in our index cases they may actually indicate a specific diagnosis.

Pulmonary lymphoma in cardiac transplant patients treated with OKT3 for rejection: diagnosis by fine-needle aspiration.

At Hines VA Hospital, three out of 38 cardiac transplant patients, who were 9, 10, and 14 mo post-surgery and treated with immunosuppressive drugs, including OKT3 prophylaxis for acute rejection, developed a solitary pulmonary nodule. Fine-needle aspiration biopsy of the nodules in these three patients revealed a hypercellular, monotonous population of large lymphoid cells. These abnormal cells were isolated, with small aggregates occasionally seen. The nuclear membranes were irregular, the chromatin was finely granular, nucleoli were prominent, and mitotic figures were frequently noted. The cells were immunoreactive to leukocyte common antigen and B-lymphocyte. Lambda light chain immunoglobulin was positive in one case, kappa in the second case, and neither light chains in the third patient. By electron microscopy in one case, the cells were large immature lymphoid cells with immunoblastic features. Subsequent tissue studies, complemented by frozen section immunostaining, flow cytometry, and phenotyping, reaffirmed the diagnosis of malignant lymphoma. It appears that OKT3 therapy increases several fold the risk of lymphoma's developing in cardiac transplant patients. Preliminary published reports have also recommended close surveillance of patients receiving OKT3 for early indications of lymphoproliferative disorder and a reevaluation of the risk vs. benefit for the prophylatic use of OKT3.

Adenocarcinoma of the lung: electron microscopy of fine-needle aspiration biopsy specimens--a review of 73 cases.

During a 10-yr period, 128 consecutive cases of pulmonary adenocarcinoma of varying differentiation were diagnosed with percutaneous fine-needle aspiration biopsy. Sediments from the needle and syringe washings with 3% glutaraldehyde were obtained and processed for electron microscopic evaluation in 73 cases. Our results showed three types of adenocarcinoma: 62 cases of nonciliated bronchiolar cell origin, 6 cases of bronchioloalveolar cell origin, and 3 cases of mucous cell origin. In addition, there was an example of combined adenosquamous carcinoma and an instance of amphicrine carcinoma. Our study provided a more precise definition of the cytologic diagnosis and insight into the heterogeneity of lung adenocarcinoma. However, prognostic differences between cell types of lung adenocarcinoma were not observed.

Pleural effusion cytology of embryonal rhabdomyosarcoma.

This case report concerns an embryonal rhabdomyosarcoma of the testis in a 31-yr-old white male patient who underwent radical left orchiectomy, followed by combined irradiation and chemotherapy, and who 2 yr later presented with dyspnea at rest, nonproductive cough, and lower back pain for 1 wk. Chest radiographs demonstrated a bilateral pleural effusion and diffuse infiltrating lesion of the pleurae, mimicking a mesothelioma. The pleural fluid displayed noncohesive, malignant, small, round cells about 2-5 times larger than mature lymphocytes. They had large, darkly stained, pleomorphic nuclei and bubbly cytoplasm with poorly defined borders. The diagnosis of embryonal rhabdomyosarcoma was supported by a positive myosin immunostaining and ultrastructural findings of intracytoplasmic actin and myosin-type microfilaments. Our case is also notable in that the tumor was a pure rhabdomyosarcoma involving a testicular origin, and the patient is the oldest reported in the literature.

Fine-needle aspiration cytology of extraskeletal Ewing's sarcoma.

Extraskeletal Ewing's sarcoma (EES) is a round-cell malignancy that manifests most commonly in the paravertebral and intercostal regions. It occurs predominantly in adolescents and young adults, between the ages of 10 and 30 yr, and follows an aggressive course with a high recurrence rate. Distant metastasis is also common. The tumor is often confused with other round, small-cell neoplasms, including primitive neuroectodermal tumor, neuroblastoma, embryonal rhabdomyosarcoma, and lymphoma. This report pertains to a fine-needle aspiration cytologic diagnosis of EES, supported by clinicopathologic and fine structural correlations in a 56-yr-old man who presented with a rapidly growing, massive, right groin mass. The smears showed a diffuse cellular population of malignant round cells composed of two types: one group of larger cell exhibiting a thin-rim, pale cytoplasm, less hyperchromatic nuclei, nucleoli, and diffusely dispersed chromatinic nuclear details; and the second group of smaller and darker cells with highly hyperchromatic and almost smudged nuclei. These are chief cells and dark cells, respectively. Special studies revealed significant intracytoplasmic glycogen and positive vimentin and HBA-71 immunostaining. Cytogenetic findings of chromosomal 11;22 translocation is also supportive of the diagnosis of EES.

Cytopathologic evaluation of lung carcinomas presenting as brain metastasis.

Brain metastasis is an uncommon initial presentation of lung carcinoma. One arm of this analysis is a retrospective review of 137 cases of surgically diagnosed solitary brain metastasis, which were eventually found to be of lung origin, encountered at Hines VA Hospital during the period 1958 to 1996. The second arm is composed of fine-needle aspiration biopsy specimens of primary lung tumor in 23 patients with an initial clinical diagnosis of brain metastasis and without the benefit of surgery, seen from 1981 through 1996. Our results in both analyses indicate that pulmonary adenocarcinoma is the predominant primary tumor that initially manifests as a brain metastasis, approaching 76% (107 and 17 cases, respectively), followed by small-cell carcinoma at 20% (24 and five cases, respectively) and large-cell undifferentiated carcinoma and squamous-cell carcinoma at 2% each. The predominance of adenocarcinoma as a source of brain metastasis in lung cancer patients probably reflects its rising incidence overall of late. Collateral findings also suggest that surgical resection of a solitary and small brain metastasis as well as of a discrete lung primary, whenever feasible, as the most effective procedure to improve survival and quality of life of patients.