1/59. hepatitis c virus-related fibrosing cholestatic hepatitis after cardiac transplantation: is azathioprine a contributory factor?We report a patient who acquired hepatitis c virus (HCV) infection at cardiac transplantation, developing fibrosing cholestatic hepatitis (FCH) with early liver failure and a fatal outcome. FCH is a recently described clinicopathological entity characterized by a cholestatic pattern of serum liver enzyme abnormalities, a progressive course leading to liver failure, and a pathological picture defined by periportal fibrosis, neutrophilic infiltrates and signs of histological cholestasis. Although it was initially described secondary to hepatitis b virus infection, it has also been recently related to HCV infection. Some histopathological features consistent with azathioprine hepatotoxicity like cholestasis, perisinusoidal fibrosis, veno-subocclusive lesions and nodular regenerative hyperplasia were also observed in this case. Therefore, a direct cytopathic effect of HCV and the concurrent pathogenic role of azathioprine hepatotoxicity may be involved in the development of this complication of transplantation.- - - - - - - - - - ranking = 1keywords = fat (Clic here for more details about this article) |
2/59. Cerebriform plantar hyperplasia: ultrastructural study of two cases.In the present work we report the histopathological features of the cerebriform plantar hyperplasia observed in two patients with a mild form of the proteus syndrome. light microscopy revealed increased fibro-adipose tissue and adnexal structures in the dermis. Ultrastructurally, densely packed collagen fibrils variable in diameter and configuration, described as composite fibrils and unraveled fibrils, as well as a few fragmented elastic fibrils presenting an altered ratio between the elastin and the microfibrillar components were the major features observed. We consider that these histopathological findings will contribute to further delineate cerebriform plantar hyperplasia and also to establish clues for the early diagnosis of the proteus syndrome.- - - - - - - - - - ranking = 42.88056500538keywords = adipose (Clic here for more details about this article) |
3/59. Veno-occlusive disease, nodular regenerative hyperplasia and hepatocellular carcinoma after azathioprine treatment in a patient with ulcerative colitis.We report the case of a 66-year-old male with ulcerative colitis diagnosed in 1987, who had been treated with azathioprine (AZA) for the past two years (average dose about 1.6 mg/kg/day). In May 1999 he presented with painless jaundice, fatigue and recent weight loss. Cholestatic enzymes were elevated, alpha-fetoprotein was normal and hepatitis B/C serology negative. After diagnosis of veno-occlusive disease (VOD) and hepatocellular carcinoma (HCC) via biopsy, tumour resection was performed. The histology was typical for a well-differentiated HCC with trabecular and pseudoglandular structures. Neighbouring liver tissue was atrophic, with nodular regenerative hyperplasia (NRH), peliosis-like sinusoidal ectasias and intra-sinusoidal accumulation of blood, associated with peri-sinusoidal fibrosis. Although none of the well-established risk factors for HCC such as cirrhosis, hepatitis B/C, metabolic liver disease or toxins were present, this patient developed HCC. This and previous reports suggest that NRH and/or VOD associated with AZA represent a risk factor for HCC. AZA should therefore not only be stopped in patients with NRH/VOD but patients should also be screened for HCC.- - - - - - - - - - ranking = 1keywords = fat (Clic here for more details about this article) |
4/59. Premature calvarial synostosis and epidermal hyperplasia (Beare-Stevenson syndrome-like anomalies) resulting from a P250R missense mutation in the gene encoding fibroblast growth factor receptor 3.We report on a patient with a severe premature calvarial synostosis and epidermal hyperplasia. The phenotype was consistent with that of a mild presentation of Beare-Stevenson syndrome but molecular analysis of the IgIII-transmembrane linker region and the transmembrane domain of the gene encoding the FGFR2 receptor, revealed wild-type sequence only. Subsequently, molecular analysis of the FGFR3 receptor gene identified a heterozygous P250R missense mutation in both the proposita and her mildly affected father. This communication extends the clinical spectrum of the FGFR3 P250R mutation to encompass epidermal hyperplasia and documents the phenomenon of activated FGFR receptors stimulating common downstream developmental pathways, resulting in overlapping clinical outcomes.- - - - - - - - - - ranking = 1keywords = fat (Clic here for more details about this article) |
5/59. Inactivating mutations of calcium-sensing receptor results in parathyroid lipohyperplasia.Familial hypocalciuric hypercalcemia (FHH) is an autosomal dominant disease characterized by mild hypercalcemia, an inappropriately high parathyroid hormone level, and absence of hypercalciuria. Heterozygous inactivating mutations of calcium-sensing receptor (CaSR) are found in about two thirds of patients with FHH. Histologic examination of parathyroid glands in FHH is reported to show normal histology or chief cell hyperplasia. Thus, histologic features of the parathyroid glands in FHH vary, and there is no clear histologic criterion that indicates FHH. The authors have encountered three hypercalcemic patients with characteristic histologic features of enlarged parathyroid glands. Clusters of parenchymal cells were mixed with fat cells, and the area of fat cells was 33% to 49% of the total area. These features are similar to those described as parathyroid lipohyperplasia. Postoperative evaluation showed that fractional excretion of calcium was low in these patients. Direct sequencing of the polymerase chain reaction product showed that the first patient was heterozygous for an already reported inactivating mutation of CaSR (P55L). The second patient was also heterozygous for a novel inactivating mutation (R220W). The third was homozygous for an inactivating mutation (Q27R). These results indicate that histologic features of parathyroid lipohyperplasia suggest the presence of inactivating mutations of CaSR.- - - - - - - - - - ranking = 2keywords = fat (Clic here for more details about this article) |
6/59. A case report of multicentric Castleman's disease with simultaneous Epstein-Barr virus infection.Castleman's disease is a rare B-cell lymphoproliferative disorder of unknown etiology. In this report we describe a 54-year-old woman with a 10-year history of asymptomatic bilateral, multiple cervical lymph node enlargements. She was not evaluated by lymph node biopsy during this period. She had been well until four months previously. The patient presented with multiple enlarged lymph nodes and systemic symptoms including fever, sweats, weight loss, and anorexia. Two lymph nodes were biopsied, yielding a diagnosis of multicentric Castleman's disease (MCCD) of mixed hyaline-vascular and plasma cell type histology. Serologic studies revealed the simultaneous presence of an acute Epstein-Barr virus (EBV) infection. She experienced an aggressive clinical course with a fatal outcome.- - - - - - - - - - ranking = 1keywords = fat (Clic here for more details about this article) |
7/59. Focal hematopoietic hyperplasia of the rib.We report a case of focal hematopoietic hyperplasia in the rib of a 24-year-old woman. This is only the fourth case to be reported in the English literature, all of which have involved the rib. Radiologically they all manifested as an expansive and radiolucent lesion and contained ill-defined areas of increased density or calcification. Histologically, all have been characterized by mixed areas of hypercellular marrow and fatty marrow. The lesion is considered a form of pseudotumor. Treatment in our case was by wide marginal excision of the rib.- - - - - - - - - - ranking = 1keywords = fat (Clic here for more details about this article) |
8/59. Clitoral cyst as a cause of ambiguous genitalia.BACKGROUND: Ambiguous genitalia need appropriate evaluation, because a serious disease can manifest as this condition. CASE: A 28-year-old woman was referred with a "penis" present from age 12 years that enlarged throughout puberty but recently was unchanged. Differential diagnosis included true hermaphroditism; adrenal hyperplasia; clitoral, ovarian, and adrenal neoplasms; stromal hyperthecosis; polycystic ovarian syndrome; and exogenous androgen exposure. Free testosterone was not elevated. dehydroepiandrosterone sulfate, 17-hydroxyprogesterone, total testosterone, androstenedione, deoxycorticosterone, 11-deoxycortisol, chromosomal analysis (46,XX), an intravenous pyelogram, and pelvic ultrasound were normal. The patient elected surgical removal. The mass was a chronic inflamed epidermoid cyst. CONCLUSION: If this patient had been appropriately evaluated earlier, she would have been spared anxiety and embarrassment over a simple epidermoid cyst.- - - - - - - - - - ranking = 1keywords = fat (Clic here for more details about this article) |
9/59. Peripheral and Ovarian Steroids in Ovarian Hyperthecosis.serum levels of cortisol (F), pregnenolone (delta5-P), 17-hydroxypregnenolone (17-delta5-P), progesterone (P), 17-hydroxyprogesterone (17-P), androstenedione (A), testosterone (T), 5alphadihydrotestosterone (DHT), dehydroepiandrosterone (DHEA), its sulfate (DHEA-S), estrone (E1), and estradiol-17beta (E2) were measure in 2 virilized patients with ovarian hyperthecosis. Daily morning blood samples were obtained for 6 consecutive days. dexamethasone (Dex) 2 mg/day was administered orally starting after venipuncture on the second day and continued for 5 days. Human chorionic gonadotropin (hCG) was administered intramuscularly on the afternoon of the fourth and fifth days. Following the suppression-stimulation test, both patients underwent abdominal hysterectomy and bilateral salpingo-oophorectomy. At the time of surgery, samples of peripheral and ovarian vein blood were obtained for steroid measurements. blood samples were also obtained postsurgery to evaluate the effect of ovariectomy on the steroid levels. Of significance were the following observations: 1)Although both patients were eumenorrheic, no corpus luteum or corpus albicans was seen on histologic examination of the ovaries. 2)Of the androgens measured, only peripheral T and DHT were elevated and did not suppress on Dex treatment, but decreased to low levels following ovariectomy, pointing toward the ovary as the source of excess T and DHT. Both patients had elevated T and DHT in the ovarian vein samples. 3)In 1 patient the ovarian vein samples shoed elevated F levels with a significant ovarian-peripheral venous gradient for this steroid, and indication of ovarian secretion of F in this patient. 4)The levels of 17-P were elevated in both patients, did not suppress on Dex, and increased markedly following hCG, suggesting the ovary as the source of excess 17-P. Since A levels were normal and did not increase concomitantly with 17-P levels following hCG, it is likely that the patients had a decreased activity of the ovarian C17-20 desmolase, the enzyme responsible for the conversion of 17-P to A.- - - - - - - - - - ranking = 1keywords = fat (Clic here for more details about this article) |
10/59. An unusual case of Cushing's syndrome due to ACTH-independent macronodular adrenal hyperplasia.We report a case of Cushing's syndrome due to ACTH-independent macro-nodular adrenal hyperplasia (AIMAH). The patient, a 51-year-old man, had been suffering from poorly controlled arterial hypertension for the previous 6 years and he complained of progressive weight gain, gynecomastia and impotence. physical examination revealed classic cushingoid features. Endocrine basal assessment showed increased urinary free cortisol (264-600 micrograms/24 hr). Urinary steroid profile showed an increase of total 17-hydroxycorticosteroids (17-OHCS: 23 mg/24 hr), with a threefold increase of tetrahydrocortisol (THF:9.66 mg/24 hr) and of tetrahydrocorticosterone (THB: 1.35 mg/24 hr). Tetrahydrodesossicortisol was only slightly elevated (THS:0.67 mg/24 hr) and tetrahydrodesossicorticosterone was at the inferior limit of the normal range (THDOC: 0.03 mg/24 hr). Total 17-ketosteroids were decreased (17-KS: 3 mg/24 hr). plasma cortisol level was elevated and without circadian rhythm (26-29 micrograms/dl in the morning, 26-28 micrograms/dl at 24:00 h). DHEAs and free testosterone levels were significantly reduced (106 ng/dl and 3.9 pg/ml respectively). ACTH was undetectable and unresponsive to CRH. Both dexamethasone and octreotide failed to suppress plasma cortisol levels. abdomen computed tomography scan demonstrated bilaterally enlarged multinodular adrenal glands. Cerebral magnetic resonance revealed no alteration of the pituitary gland. The patient underwent bilateral adrenalectomy. On macroscopic examination, adrenal glands were occupied by multiple yellow nodules and their compressive weight was 190 g, with left adrenal heavier than the right one (120 g and 70 g respectively). Histologically, nodular lesions were predominantly composed of large clear cells, with small foci of "hybrid" cells and adipose tissue metaplasia. Reticularis zone was atrophic. In the immediate post-operatory course pulmonary embolism occurred, despite prophylaxis with low molecular weight heparin. After having recovered from this complication, the patient showed progressive regression of cushingoid status. The findings of increased THF/THS and THB/THDOC ratios were in agreement with a relative hyperfunction of 11-beta-hydroxylase "in vivo", which might have contributed to the hypercortisolism, in addition to the marked increase of secernent adrenal mass.- - - - - - - - - - ranking = 42.88056500538keywords = adipose (Clic here for more details about this article) |
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