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PubMed1999

The course of pancreatic fibrosis induced by dibutyltin dichloride (DBTC).

In summary, in addition to an acute interstitial pancreatitis the organotin compound DBTC induced a pancreatic fibrosis in rats. The course of the pancreatic fibrosis was studied 2-36 weeks after single i.v. treatment of rats with 6 or 8 mg/kg DBTC. The pancreatic fibrosis induced by DBTC differs from other experimental models of acute pancreatitis. Extensive infiltration by mononuclear cells is present in fibrotic areas without pancreatic atrophy or lipomatosis. The presence of chronic inflammatory lesions characterized by the destruction of exocrine parenchyma and fibrosis and in the later stages the endocrine parenchyma, indicate a chronic pancreatitis. In completion of the experimental model of the DBTC-induced acute interstitial pancreatitis in rats, the described late fibrotic effects on rat pancreas may be used as an experimental model of chronic pancreatitis.

Alkaline Phosphatase↗

PubMed2002

Diffuse mesenteric lipodystrophy (massive fat necrosis) in a cat.

Clinical, radiographic, and pathological findings of diffuse mesenteric lipodystrophy in a 3-year-old, female domestic short-haired cat are described. The animal had fallen from a height of approximately 20 metres 6 weeks previously, after which it developed respiratory distress and anorexia. The cat was thin, exhausted and had rapid, shallow, open-mouthed breathing. Serial upper gastrointestinal contrast radiographs showed a prolonged transit time of the contrast medium due to restricted gastric emptying, and filling defects of the duodenojejunal portions of the small intestines. The cranial abdominal cavity contained large, firm, white masses that adhered to most of the anterior abdominal organs. The intestinal walls were completely surrounded by large, hard, lobulated masses of lipomatous tissue. The masses were characterised histologically by extensive areas of coagulative necrosis of adipocytes containing foci of saponification. The lesions resembled those of massive fat necrosis or lipomatosis in cattle, pigs and deer.

Accidental Falls↗

PubMed2005

Oculocerebrocutaneous syndrome: the brain malformation defines a core phenotype.

BACKGROUND: Oculocerebrocutaneous syndrome (OCCS) is characterised by orbital cysts and anophthalmia or microphthalmia, focal aplastic or hypoplastic skin defects, skin appendages, and brain malformations. The eye and skin abnormalities are well described but the neuropathological features less so. To date, 28 patients with an unequivocal diagnosis of OCCS have been reported, with a preponderance of males. OBJECTIVE: To evaluate the brain imaging studies, clinical records, photographs, and pathological material of two new and nine previously reported cases of OCCS. RESULTS: There was a consistent pattern of malformations in eight of the 11 cases, consisting of frontal predominant polymicrogyria and periventricular nodular heterotopia, enlarged lateral ventricles or hydrocephalus, agenesis of the corpus callosum sometimes associated with interhemispheric cysts, and a novel mid-hindbrain malformation. The latter consisted of a giant and dysplastic tectum, absent cerebellar vermis, small cerebellar hemispheres in most cases, and a large posterior fossa fluid collection. CONCLUSIONS: The mid-hindbrain malformation appears pathognomonic for OCCS. The eye and skin features of OCCS show considerable overlap with several other syndromes, such as encephalocraniocutaneous lipomatosis, oculo-auriculo-vertebral spectrum, and focal dermal hypoplasia, none of which has a comparable pattern of brain malformations. In particular the unique mid-hindbrain malformation also distinguishes OCCS from related syndromes with comparable forebrain anomalies. The pattern of malformation described thus helps in differentiating OCCS from other entities. The mid-hindbrain malformation points to a defect of the mid-hindbrain organiser as the underlying pathogenic mechanism.

Abnormalities, Multiple↗

PubMed1991

Fat-containing soft-tissue masses of the extremities.

The authors review the radiologic spectrum of fat-containing soft-tissue masses of the extremities, with emphasis on computed tomography, magnetic resonance imaging, and pathologic correlation. These masses include both common and uncommon, benign and malignant lesions, such as lipoma, intramuscular and intermuscular lipoma, neural fibrolipoma, lipoblastoma, lipomatosis, hibernoma, hemangioma, elastofibroma, and liposarcoma, as well as lesions that may mimic fat-containing soft-tissue masses. Imaging studies of fat-containing lesions will often allow a specific presumptive diagnosis. When a specific diagnosis is not possible, however, knowledge of the spectrum of fat-containing lesions will allow a suitably ordered differential diagnosis.

Adolescent↗

PubMedDate not supplied

CT of heart transplant recipients: spectrum of disease.

The emergence of heart transplantation as the ultimate treatment for end-stage heart failure has been accompanied by new diagnostic challenges. Computed tomography (CT) has emerged as an important diagnostic tool in the evaluation of heart transplant recipients because many infectious, ischemic-hemorrhagic, and neoplastic complications are amenable to early detection with this modality. In the early postoperative period, CT is mostly indicated in the evaluation of infectious complications or cerebral symptoms. Later, CT is mostly performed for staging of infectious or neoplastic disease. Infectious complications include mediastinitis, soft-tissue inflammation, abscess formation, cerebral infarction, and aspergillosis. Complications related to ischemia or hemorrhage include allograft rejection and coronary allograft vasculopathy, the latter being the leading long-term cause of death in heart transplant recipients. CT is also indicated in malignant disease (eg, lymphoma, visceral carcinoma, skin tumors), which is the second most important long-term cause of death. Moreover, CT is helpful in identifying disease caused by immunosuppressive therapy (eg, leukoencephalopathy, osteoporosis, thoracic lipomatosis). CT has proved superior to both ultrasound and magnetic resonance imaging in the evaluation of heart transplant recipients. It has become the diagnostic modality of choice for many transplant-related complications and may help improve postoperative treatment of affected patients.

Diagnosis, Differential↗

PubMed1983

Nuclear magnetic resonance imaging of the kidney.

The role of nuclear magnetic resonance (NMR) imaging of the kidney was analyzed in 18 persons (6 normal volunteers, 3 patients with pelvocaliectasis, 2 with peripelvic cysts, 1 with renal sinus lipomatosis, 3 with renal failure, 1 with glycogen storage disease, and 2 with polycystic kidney disease). Ultrasound and/or computed tomography (CT) studies were available for comparison in every case. In the normal kidney distinct anatomical structures were clearly differentiated by NMR. The best anatomical detail was obtained with spin echo (SE) imaging, using a pulse sequence interval of 1,000 msec and an echo delay time of 28 msec. However, in the evaluation of normal and pathological conditions, all four intensity images (SE 500/28, SE 500/56, SE 1,000/28, and SE 1,000/56) have to be analyzed. No definite advantage was found in using SE imaging with a pulse sequence interval of 1,500 msec. Inversion recovery imaging enhanced the differences between the cortex and medulla, but it had a low signal-to-noise level and, therefore, a suboptimal overall resolution. The advantages of NMR compared with CT and ultrasound are discussed, and it is concluded that NMR imaging will prove to be a useful modality in the evaluation of renal disease.

Glomerulonephritis↗

PubMed1984

Focal renal masses: magnetic resonance imaging.

Thirty patients with focal renal masses were evaluated on a .12-Tesla resistive magnetic resonance unit using partial saturation and spin echo pulse sequences. A short repetition time (TR = 143 ms) was employed for partial saturation images and a spin echo was present in each case (TE = 10 ms). Additional pulse sequences through regions of interest were also obtained. Fifteen patients had cystic lesions, nine patients had renal cell carcinoma, two had metastatic lesions, one had an angiomyolipoma, and three had focal bacterial infection. Cystic lesions were well circumscribed and demonstrated a range of signal intensities. Small intra-parenchymal cysts were difficult to identify. Renal cell carcinomas demonstrated areas of increased signal using a partial saturation sequence (TR = 143-415 ms, TE = 10 ms). Magnetic resonance imaging accurately detected perinephric extension and vascular invasion in all patients. Metastatic disease to the kidney was uniformly low in signal, in contrast to primary renal cell carcinoma; an angiomyolipoma demonstrated very high signal intensity. Two masses resulting from acute focal bacterial nephritis were uniformly low in signal. One additional case of a more indolent pyelonephritis demonstrated high signal in regions of replacement lipomatosis and low signal in sites of active infection. Magnetic resonance imaging appears to be an accurate way of detecting, identifying, and staging focal renal masses.

Adenocarcinoma↗

PubMed2004

The renal sinus: pathologic spectrum and multimodality imaging approach.

Various pathologic conditions can occur in the renal sinus, primarily originating in the constituents of the renal sinus, and the renal sinus can be secondarily involved by surrounding renal parenchymal and adjacent retroperitoneal lesions. Lipomatosis and cysts are common renal sinus lesions with little clinical significance, but differentiation from other pathologic conditions is important. Renal vascular lesions such as renal artery aneurysm or arteriovenous fistula can mimic other parapelvic or peripelvic lesions at excretory urography, but their vascular nature is evident at color Doppler ultrasonography, contrast material-enhanced computed tomography (CT), and magnetic resonance (MR) imaging. Although most tumors originating in the renal pelvis are transitional cell carcinoma or squamous cell carcinoma, renal parenchymal tumors such as renal cell carcinoma or benign multilocular cystic nephroma have a tendency to grow into the renal sinus. Rare tumors of mesenchymal origin can develop in the renal sinus, but their imaging findings are nonspecific. The observation of renal sinus fat is important for detecting a small tumor located in that area and determining the exact tumor stage. Multiplanar CT or MR images can allow exact evaluation of the extent of complex renal sinus disease.

Adolescent↗

PubMed1980

Effects of gastrointestinal hormones and carbamylcholine on cAMP accumulation in isolated pancreatic duct fragments from the rat.

A modification of a technique to isolate kidney tubule fragments and pancreatic acinar cells has been used to prepare a suspension of pancreatic duct fragments from rats with pancreatic lipomatosis due to pretreatment with penicillamine and a copper-free diet. This suspension is 90-95% pure almost without any acinar cell contamination. The accumulation of 3',5'-cyclic adenosine monophosphate (cAMP) in response to various gastrointestinal hormones, hormone-like substances and theophylline was studied in these isolated pancreatic duct fragments. In the absence of theophylline, secretin increased the level of cAMP in a dose-dependent manner with a maximum at 10(-6) M. With supramaximal doses the concentration of cAMP decreased. During maximal stimulation with secretin the level of cAMP was dependent on the concentration of fragments in the incubation mixture. Vasoactive intestinal peptide (VIP) also increased the formation of cAMP. However, VIP was 10 times less effective than secretin on a molar basis. The addition of various concentrations of VIP to a submaximal dose of secretin did not alter cAMP levels as compared to the levels observed with the same concentration of secretin alone. Theophylline (5 x 10(-3) and 10(-2) M) stimulated cAMP accumulation and 5 x 10(-3) M theophylline potentiated the response to secretin and VIP. Pancreozymin (20 and 99% pure), glucagon bovine pancreatic polypeptide and carbamylcholine did not effect the level of cAMP when given alone or in combination with secretin. These data lend support to the hypothesis that cAMP is the intracellular mediator of the action of secretin and VIP on the pancreatic duct cells.

Animals↗

PubMed1998

Sudden death by arrhythmogenic right ventricular dysplasia in a South American transsexual?

Arrhythmogenic right ventricular dysplasia (ARVD) is a rare, but increasingly diagnosed, anatomoclinical entity, characterized by a regional or diffuse replacement of the myocardium of the right ventricle (RV) by adipose/fibroadipose tissue. We report a probable case of a sudden death by ARVD, initially misinterpreted by investigators as a violent death, in a 22-year-old, South American transsexual, HIV-positive, while attempting clandestine immigration from Switzerland to Italy. The demonstration of the causal connection between RVD, electrical instability of the RV and death may be puzzling, especially when circumstances of death are unclear. The still unclear nosological borders between normal adipose content, 'near physiological' lipomatosis and RVD, the uncertain topographic correlation between (fibro) adipose infiltration and electrical instability of the RV as well as the incidental finding of extensive fibrofatty infiltration of the RV also in victims of violent deaths indicate the need to consider with caution--and always after the exclusion of other causes--the causal connection between RVD and sudden death.

Adult↗

PubMed1992

Epidermal nevus syndrome: subgroup with neuronal migration defects.

Epidermal nevus syndrome is one of the sporadic congenital hamartoses in which neurologic abnormalities have been frequently reported. We report two cases with severe primary brain involvement, seizures, mental retardation, and facial hemihypertrophy. We emphasize the superiority of magnetic resonance imaging over other radiographic studies in outlining the primary central nervous system anomalies associated with this syndrome. Although attempts were made to distinguish between several variants of epidermal nevus syndrome, it is clear that these are one entity. Proteus syndrome, encephalocraniocutaneous lipomatosis, and epidermal nevus syndrome have several overlapping phenotypic features. We suggest that they represent a phenotypic continuum, which in turn suggests a common pathogenetic process. While the cause of these syndromes is unknown, observations point to a somatic mutation leading to variable patterns of mosaicism.

Abnormalities, Multiple↗

PubMed2005

Mitochondrial dysfunction induces triglyceride accumulation in 3T3-L1 cells: role of fatty acid beta-oxidation and glucose.

Mitochondrial cytopathy has been associated with modifications of lipid metabolism in various situations, such as the acquisition of an abnormal adipocyte phenotype observed in multiple symmetrical lipomatosis or triglyceride (TG) accumulation in muscles associated with the myoclonic epilepsy with ragged red fibers syndrome. However, the molecular signaling leading to fat metabolism dysregulation in cells with impaired mitochondrial activity is still poorly understood. Here, we found that preadipocytes incubated with inhibitors of mitochondrial respiration such as antimycin A (AA) accumulate TG vesicles but do not acquire specific markers of adipocytes. Although the uptake of TG precursors is not stimulated in 3T3-L1 cells with impaired mitochondrial activity, we found a strong stimulation of glucose uptake in AA-treated cells mediated by calcium and phosphatidylinositol 3-kinase/Akt1/glycogen synthase kinase 3beta, a pathway known to trigger the translocation of glucose transporter 4 to the plasma membrane in response to insulin. TG accumulation in AA-treated cells is mediated by a reduced peroxisome proliferator-activated receptor gamma activity that downregulates muscle carnitine palmitoyl transferase-1 expression and fatty acid beta-oxidation, and by a direct conversion of glucose into TGs accompanied by the activation of carbohydrate-responsive element binding protein, a lipogenic transcription factor. Taken together, these results could explain how mitochondrial impairment leads to the multivesicular phenotype found in some mitochondria-originating diseases associated with a dysfunction in fat metabolism.

3T3-L1 Cells↗

PubMed2004

Peripheral neuropathy with ataxia in childhood as a result of the G8363A mutation in mitochondrial DNA.

Peripheral neuropathy has been identified in children with mitochondrial encephalomyopathies but not as a main clinical landmark. Here we report the clinical, electrophysiologic, biochemical, and genetic findings in a family who harbors the G8363A mutation in the tRNALys gene of mitochondrial DNA. Affected individuals presented with peripheral neuropathy and ataxia as the main clinical sign. Additional involvement included muscle weakness and multiple lipomatosis. Other common clinical characteristics associated with the G8363A mutation, such as cardiomyopathy and myoclonus epilepsy, were not observed. These findings suggest that a mitochondrial disease should be considered in the differential diagnosis of children with heredoataxic syndrome and peripheral neuropathy of unknown origin.

Adolescent↗

PubMed1999

Polycystic bone disease: A new, autosomal dominant disorder.

We describe a new heritable bone disease characterized radiographically by increasingly numerous and enlarging cyst-like lesions throughout the skeleton. Beginning in early childhood, a father, son, and daughter all suffered from progressively frequent pathological fractures involving such radiolucencies. Healing occurred uneventfully and with little residual pain or deformity. Biochemical parameters of mineral homeostasis and skeletal turnover were normal. Bone scanning showed increased radioisotope uptake primarily in fractures and in the largest collections of the lesions. The histopathology is uncertain, but may reflect a form of intraosseous lipomatosis. This unique condition, which we have provisionally named polycystic bone disease, is inherited as an autosomal dominant trait with a high degree of penetrance.

Bone Cysts↗

PubMed1980

Effect of secretin and VIP on isolated pancreatic duct fragments in vitro.

A modification of a technique to isolate kidney tubule fragments and pancreatic acinar cells has been used to prepare a suspension of pancreatic duct fragments from rats with pancreatic lipomatosis due to pretreatment with penicillamine and a copper-free diet. This suspension contains almost pure fractions of pancreatic duct fragments. The accumulation of 3',5'-cyclic adenosine monophosphate (cAMP) in response to secretin, VIP and theophylline was studied in these isolated pancreatic duct fragments. In the absence of theophylline, secretin increased the level of cAMP in a dose-dependent manner with a maximum at 10(-6) M. With supramaximal doses the concentration of cAMP decreased. Vasoactive intestinal peptide (VIP) also increased the formation of cAMP. However, VIP was 10 times less effective than secretin on a molar basis. The addition of various concentrations of VIP to a submaximal dose of secretin did not alter cAMP levels as compared to the levels observed with the same concentration of secretin alone. Theophylline (5 x 10(-3) and 10(-2) M) stimulated cAMP accumulation and 5 x 10(-3) M theophylline potentiated the response to secretin and VIP. These data lend support to the hypothesis that cAMP is the intracellular mediator of the action of secretin and VIP on the pancreatic duct cells.

Animals↗

PubMed2004

Lipoma in the thyroid?

We report a child with a nodular goiter and a lipoma in the thyroid gland. This association has not been previously described in children. Thyrolipoma and lipomatosis of the thyroid are rare tumors of similar histology and unclear etiology. The lesions and the histology described in this child might represent the beginning of this disease.

Child, Preschool↗

PubMed2002

Adverse effects of antiretroviral therapy: focus on orofacial effects.

The optimum anti-HIV drug has yet to be found. This paper will summarise some of the oral adverse effects associated with antiretroviral agents against HIV. The development of antiretroviral drugs for the treatment of HIV infection has been aimed at the inactivation of two HIV enzymes: reverse transcriptase and proteases. Erythema multiforme, ulcers and xerostomia are the main oral side effects associated with reverse transcriptase inhibitors. Parotid lipomatosis, taste disturbance, xerostomia and perioral paraesthesia are oral adverse effects, which are mainly related to protease inhibitor therapy. The search for new antiretrovirals with different active mechanisms and patterns of resistance constitutes a key question in HIV treatment. The use of new drugs and drug combinations will lead to the appearance of oral lesions, which will be difficult to identify and treat and which cannot be ignored by the practitioner.

Anti-HIV Agents↗

PubMed2002

Central nervous system lipomas.

The lipomas of the central nervous system are rare lesions of congenital origin and are located in the medial line and especially in corpus callosum. Intramedullary spinal lipomas can be seen in the life span of 30 years of age and most frequently coincide with initial puberty period. Magnetic resonance imaging and computerized tomography together with clinical trials are of crucial importance for diagnosis. The first case: A two-year-aged girl who had lipoma in quadrigeminal cistern and who suffered from encephalocraniocutaneous lipomatosis has been clinically studied. The fascial lipoma of the patient has been excised subtotally by the Plastic Surgeons; then the patient has underwent supracerebellar infratentorial operation where the intracranial lipoma has been excised by our team. The histopathology has been reported to be consisting of peripheric nerve tissue and calcification. The second case: A twenty-year-aged man with intramedullary lipoma localized between T1-T4 has been given our clinical trials. T1-T5 total laminectomy and subtotal excision were made for this patient. Due to the fact that the lipomas of central nervous system are rarely seen and are involved in nervous and calcific tissues except for fatty tissues they can be mistaken for hamartomatous masses. The total excision of the lipomas of central nervous system and especially the spinal intramedullary lipomas are quite difficult to be excised since they are tightly entangled with the neural tissue. So any attempt for total excision would be dangerous. Operation for decompression and biopsy is of primary concern.

Adult↗