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PubMed2001

Association of germline mutation in the PTEN tumour suppressor gene and Proteus and Proteus-like syndromes.

The molecular aetiology of Proteus syndrome (PS) remains elusive. Germline mutations in PTEN cause Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome, which are hereditary hamartoma syndromes. Some features-eg, macrocephaly, lipomatosis, and vascular malformations-can be seen in all three syndromes. We examined PTEN in patients with PS and undefined Proteus-like syndromes (PS-like) and identified de-novo germline mutations in two of nine patients with PS and three of five patients with PS-like. Germline PTEN mutation analysis should be done in individuals with PS and PS-like because of its association with increased risk of cancer development and potential of germline-mutation transmission.

Genes, Tumor Suppressor↗

PubMed2000

Pharmacology of nucleoside and nucleotide reverse transcriptase inhibitor-induced mitochondrial toxicity.

OBJECTIVE: This paper reviews the function of the mitochondria and the mechanisms by which nucleoside and nucleotide reverse transcriptase inhibitors (NRTIs) cause mitochondrial toxicity. BACKGROUND: Highly active antiretroviral therapy (HAART) reduces rates of morbidity and mortality due to HIV disease. However, long-term treatment with these drugs may be associated with adverse effects. Nucleoside and nucleotide analogues are potent inhibitors of HIV reverse transcriptase and have become the cornerstone of HAART. Unfortunately, these drugs have also been shown to inhibit cellular polymerases, most notably mitochondrial DNA polymerase gamma. RESULTS: Studies of the NRTIs in enzyme assays and cell cultures demonstrate the following hierarchy of mitochondrial DNA polymerase gamma inhibition: zalcitabine > didanosine > stavudine > lamivudine > zidovudine > abacavir. In vitro investigations have also documented impairment of the mitochondrial enzymes adenylate kinase and the adenosine diphosphate/adenosine triphosphate translocator. Inhibition of DNA polymerase gamma and other mitochondrial enzymes can gradually lead to mitochondrial dysfunction and cellular toxicity. The clinical manifestations of NRTI-induced mitochondrial toxicity resemble those of inherited mitochondrial diseases (ie, hepatic steatosis, lactic acidosis, myopathy, nephrotoxicity, peripheral neuropathy, and pancreatitis). Fat redistribution syndrome, or HIV-associated lipodystrophy, is another side effect attributed in part to NRTI therapy. The morphologic and metabolic complications of this syndrome are similar to those of the mitochondrial disorder known as multiple symmetric lipomatosis: suggesting that this too may be related to mitochondrial toxicity. The pathophysiology of less common adverse effects of nucleoside analogue therapy, such as diabetes, ototoxicity, and retinal lesions, may be related to mitochondrial dysfunction but have not been adequately studied. CONCLUSION: NRTls can block both HIV reverse transcriptase and mitochondrial DNA polymerase gamma. Inhibition of the latter enzyme is the most likely cause of the adverse effects associated with these drugs.

Animals↗

PubMedDate not supplied

Shwachman-Diamond syndrome in a Mexican family.

Shwachman-Diamond Syndrome (SDS) is an inherited condition with multisystemic abnormalities including pancreatic exocrine dysfunction, neutropenia, short stature, and skeletal abnormalities. In this report, we describe the case of a 14-year-old female with a history of neutropenia, pancreatic exocrine insufficiency and pancreatic endocrine sufficiency, pancreatic lipomatosis (10), and the development of myeloid leukemia. Postmortem examination revealed a high probability of SDS. We also describe the clinical findings in the patient's six siblings, suggesting this as a familial form of SDS. Because the gene(s) responsible for this syndrome have not yet been identified, genetic confirmation is not yet possible. This is the first report in the literature of a Mexican family with probable SDS.

Abnormalities, Multiple↗

PubMed1990

Blood flow in the atrophied pancreas.

Pancreatic and islet blood flow was measured by quantitative determination of microspheres within atrophied pancreases of rats rendered dietarily copper-deficient. The deficient state effects selective acinar necrosis and its replacement with non-inflammatory lipomatosis. While blood flow to lipomatous glands remained intact, it was significantly less (0.41 +/- 0.02 ml/min X g pancreas) compared to normal control glands (0.50 +/- 0.01 ml/min X g pancreas). Blood flow to islets, which remain unaffected by selective acinar atrophy of the copper-deficient state, was not significantly altered (50.8 +/- 2.13 microliters/min X g pancreas) compared to controls (55.7 +/- 2.66 microliters/min X g pancreas). The percent of islet blood flow (IBF) within atrophied glands (12.2 +/- 0.31) was found to be significantly greater than control glands (10.7 +/- 0.21). It is suggested that the maintenance of IBF and IBF percentage in the atrophic pancreas may reflect the parallel arrangement of islet angioarchitecture which based on morphological data is not appreciably altered with attenuation of acinar plexuses. Microspheres, although not quantitated, were also found distributed within the adventitia of ducts as well as in vessels supplying intrapancreatic nerves and ganglia which remain intact in copper deficiency-induced acinar atrophy.

Animals↗

PubMed1985

Morphologic alterations in the long Q-T syndrome. Light and electron microscopic observations in the conduction system and in sympathetic trunks.

Post-mortem examinations of 2 patients with long Q-T syndrome revealed marked focal fibrosis and lipomatosis of the conduction system as well as focal round cell ganglionitis of both sympathetic trunks. The patients, young women of different nationality displaying syncopal attacks and a long Q-T interval in the ECG died suddenly of ventricular arrhythmias. A family study of one of them revealed Q-T prolongation in 4 generations. The ultrastructure of the conductive tissue and the ventricular myocardium showed no specific alterations indicative of a primary metabolic defect. Ganglionitis of the sympathetic trunks has not yet been reported in the long Q-T syndrome. Although the etiology of the inflammatory changes is uncertain a chronic viral infection, noninfectious toxic alterations or an autoimmunopathy are among the plausible causes discussed.

Adult↗

PubMed1988

Primary mesenteritis, mesenteric fibrosis and mesenteric fibromatosis. Report of four cases, pathology, and classification.

Primary mesenteritis is a rare disease. Two cases and two additional patients with mesenteric fibrosis/fibromatosis are reported. A classification of primary and secondary mesenteritis is suggested in order to replace the confusing variety of terms used for the same disease process. Differential diagnosis of mesenteric fibrosis versus mesenteric fibromatosis may be difficult, and some criteria for the separation of these two entities are discussed. Among the clinical symptoms, transmission of aortic pulsations to the anterior abdominal wall is a rare but important aid for diagnosis. Associated diseases are malignant lymphoma, colonic adenomatosis (Gardner's syndrome) and retroperitoneal fibrosis. Microscopically, mesenteric lipomatosis and Whipple's disease must be ruled out. Usually, surgical treatment is not necessary. Prednisone and azathioprine may be helpful in severe cases. Fatal outcome of primary mesenteritis is extremely rare.

Adult↗

PubMed1996

Retroperitoneal liposarcoma in two siblings.

We report here on two cases of retroperitoneal liposarcoma which heterochronously occurred in two siblings. A huge myxoid liposarcoma, 20 x 14 cm size, was noticed in a 33-year-old female, who died with multiple liver metastasis in about half a year. Two years later after the death of the younger sister, pleomorphic liposarcoma, 8 x 8 cm in size, was noticed in a 39-year-old male who died with local recurrence and multiple metastasis one year after the operation. Their mother (69 years old) had had an operation for malignant fibrous histiocytoma of the right thigh at age 66. There was no evidence of multiple lipomatosis, an autosomal dominant trait, in the siblings or their family. Diverse soft-tissue sarcomas, but not liposarcoma, occur excessively in siblings with the syndrome of Li-Fraumeni. To our knowledge this is the first such report of its sibship occurrence.

Adult↗

PubMed1999

Radioprotection of salivary glands by S-2-(3-aminopropylamino)-ethylphosphorothioic (amifostine) obtained in a rabbit animal model.

BACKGROUND: Impairment of salivary gland function following high-dose radioiodine treatment (HDRIT) is a well-recognized side effect of the treatment. Because differentiated thyroid cancer has an excellent prognosis, reduction of long-term side-effects is mandatory. Therefore, the aim of this study was to investigate the radioprotective effect of amifostine in a rabbit animal model. METHODS: Salivary gland scintigraphy was performed in a total of 16 New Zealand White rabbits. Uptake of 99-Tc-pertechnetate was calculated in percentage of injected activity as a quantitative measure of both salivary gland and thyroid function. Reproducibility of salivary gland scintigraphy was evaluated in one rabbit without any intervention. Fifteen rabbits were studied prior to and up to 6 months after high-dose radioiodine treatment applying 2 GBq 131I. Ten animals received 200 mg/kg amifostine prior to high-dose radioiodine therapy, and 5 served as controls. Salivary glands were examined histopathologically. RESULTS: Variation coefficient of parenchymal function was less than 3.8% in salivary glands. Prior to HDRIT, thyroid uptake was 0.417+/-0.373% and 0.421+/-0.241% in control and amifostine-treated rabbits, respectively. Four weeks after HDRIT, complete ablation of the thyroid was achieved in both groups. Prior to HDRIT, uptake of 99mTc-pertechnetate in salivary glands of five control rabbits was not significantly different from ten amifostine-treated rabbits. In control rabbits 6 months after HDRIT, parenchymal function was reduced significantly (p < 0.0001) by 75.3+/-5.3% and 53.6+/-17.4% in parotid and submandibular glands, respectively. In contrast, in amifostine-treated rabbits, parenchymal function was reduced by 10.6+/-3.4% and 6.5+/-4.3% (p > 0.05) in parotid and submandibular glands, respectively. Histopathologically, marked lipomatosis was observed in control animals but was negligible in amifostine-treated animals. CONCLUSION: Parenchymal damage in salivary glands induced by high-dose radioiodine treatment can be significantly reduced by amifostine in this rabbit animal model. This corresponds to data obtained in patients with differentiated thyroid cancer.

Amifostine↗

PubMed2003

Pathomorphological criteria of arrhythmogenic heart.

Pathomorphological criteria of arrhythmogenic heart include structural compartmentalization with primary changes in the right ventricle and interventricular septum, fibro- and lipomatosis of the myocardium, and disseminated coronary obstruction. Ischemic focuses in the conducting system are the site of formation of arrhythmogenic substance promoting the development and progression of cardiac arrhythmias. Cardioneuropathy and pathological motility of the interventricular septum lead to systolic dysfunction and contribute to asynchronous excitation and contraction of ventricles in arrhythmogenic heart.

Adult↗

PubMed2002

Lipomatous melanocytic nevomatosis.

Giant congenital melanocytic nevi (GCMN) are rare and occur in about one out of every 200,000-500,000 births. Their importance resides in the aesthetic alteration they produce and in the possibility of malignant transformation or in their association with nevi in the central nervous system as a distinctive syndrome: neurocutaneous melanoblastosis or nevomatosis, due to the fact that nervous system lesions are produced by infiltration of nevus cells. We present here a patient with a combination of GCMN with an outstanding lipomatosis located on the same area.

Aged↗

PubMed1998

Structural alterations in the latissimus dorsi muscles in three patients more than 2 years after a cardiomyoplasty procedure.

AIMS: The long-term effects of the use of the latissimus dorsi muscle for dynamic cardiomyoplasty were studied. Skeletal muscle fast fatiguable type II fibres are transformed to highly fatigue-resistant type I fibres in animal models, and is assumed to occur in men. However, it is not known whether this same transformation occurs in patients with chronic heart failure. METHODS AND RESULTS: Three patients who underwent a cardiomyoplasty procedure (pre-operative NYHA class IV) were studied. The left latissimus dorsi muscle was stimulated, according to routine clinical protocol, with 30 Hz bursts in a 2:1 ratio to cardiac activation. The patients died more than 2 years after surgery and five autopsy samples were obtained at defined places in the wrapped muscle. In the proximal part of the latissimus dorsi muscle, the type I fibres comprised 68-80% in all three patients, whereas peroperatively type I fibres comprised 17-30% indicating significant but not complete transformation. Transformation in the latissimus dorsi muscle as a whole appeared to be inhomogeneous, with type I fibres ranging from 10-80%. An extensive amount of muscle fibre appeared to be replaced by fatty tissue (10%-50%). This occurred at random and resulted in complete loss of muscle structure. A significant increase in the density of small arteries was observed in the latissimus dorsi after transformation. CONCLUSIONS: In these patients, muscle fibre type transformation was not as complete as that observed in animal experiments, and was accompanied by loss of muscle viability. The stimulation current in the latissimus dorsi muscle appeared not to be the direct cause of local tissue lipomatosis or collagen deposition.

Aged↗

PubMed2000

Aplasia cutis congenita associated with a lipoma.

Aplasia cutis congenita is a condition that can present with a wide variety of symptoms and many attempts have been made to classify it comprehensively. This report presents the first case of a child with aplasia cutis congenita confirmed on histology with an associated lipoma or lipomatosis directly underlying it. It exemplifies the difficulty in diagnosing and treating this rare condition.

Ectodermal Dysplasia↗

PubMed2000

CNS lipoma in patients with epidermal nevus syndrome.

Epidermal nevus syndrome (ENS) is a congenital neurocutaneous disorder characterized by linear nevus with a significant involvement of the nervous, ophthalmological and skeletal systems. Clinical manifestations of ENS include neurological features such as mental retardation, seizures, and movement disorders which are caused by a wide range of neuropathological lesions. We describe three patients with ENS, all of whom had in addition to the characteristic features of ENS intracranial and/or intraspinal lipomas. In one patient the lipoma extended from the thoracal vertebra 8 to the 4th ventricle; in the second patient it was localized on T9, and in the third patient an intracranial lipoma was located at the right cerebellopontine angle. The intraspinal lipomas caused a significant spastic movement disorder. So far, CNS lipomas have not been described as typical neuropathological findings in ENS. The differential diagnosis to encephalocraniocutaneous lipomatosis with the typical finding of CNS lipoma is discussed.

Adolescent↗

PubMed1985

[7 MHz real-time sonography of the skeletal musculature in Duchenne muscular dystrophy].

The lumbar paravertebral musculature, the M. quadriceps femoris and M. triceps surae of boys suffering from Duchenne's muscular dystrophy of different clinical progression, were examined via sonography. The sonographic incisions were made at fixed levels. The sonographic findings were compared with those of healthy boys. The sonographic findings showed - depending on the clinical stage of Duchenne's muscular dystrophy - typical reflex patterns of different intensity determined by lipomatosis and fibrosis of the skeletal musculature, correlating with the clinical stage, and hence musclesonography is an important diagnostic element in the observation of the course and in therapy planning in Duchenne's muscular dystrophy. The 7-MHz transducer has an advantage over the low-frequency transducers mostly in use, because the image quality is substantially superior.

Adolescent↗

PubMed1996

[Breast reduction-plasty using the modified Strömbeck-McKissock technique].

We reported on the results of 703 breast reduction operations performed by a modified technique after McKissock/Strömbeck. Altogether we operated in the last 10 years 360 patients (15-65 years; mean 32 years) at the Johanniter Hospital in Geesthacht. Only such patients were operated on for whom a medical necessity for reduction of the breast was established, such as orthopaedic problems etc. Complications in healing, especially of the nipple, the supporting parts of the nipple, and parenchyma were examined with these different variables: age of the patients, nicotine consumption, weight of tissue taken out, preoperative distance between nipple and jugulum, body weight of the patient in relation to normal weight, length of operation, loss of blood, and parenchymal histology. Life-endangering complications did not occur in any patient. Infections were seen in 2/360 patients (0.6%). All patients were given a perioperative antibiotic prophylactic, usually with Baypen (mezlocillin). Removable haematoma was seen in only 2/703 (0.3%). 100% necrosis of the nipple was seen in 4/703 reduced breast (0.6%), which agrees with Strömbeck's results (10). Other authors count up to 7.1% complete necrosis of the nipple (2n, 15). Nipple necrosis in part (1/3-2/3) was seen in 14/703 (1.8%) mammaplasty. Statistically highly significant correlations were found in all healing disturbances in relation to the amount of reduced tissue, distance of jugulum to nipple and adipositas. Patients with parenchymal lipomatosis had more complications in relation to other histological types (p < 0.05 and p < 0.01). Especially smoking patients showed a correlation to necrosis of the nipple (p < 0.05%), not to parenchymal necrosis. The duration of operation was not in any way connected with the healing complications. With these results it is easier to obtain the patient's informed consent by means of individual explanations of the operation and its risks.

Adolescent↗

PubMed1987

Computed tomography of Crohn's disease--reevaluation.

The indications and CT features of Crohn's disease were reevaluated, based on 48 examinations in 28 patients. Although CT is indicated mostly in the complications of Crohn's disease, it played a major role in the primary diagnosis of Crohn's disease in 8 patients. 5 unsuspected patients had CT for other abdominal indications and 3 had the examinations as part of an elective diagnostic work-up. The following CT features of Crohn's disease are worthy of note: Bowel wall thickening is usually obvious and needs no measurement. Abscesses are often of inhomogeneous density and should be differentiated from inflammatory bowel conglomerates. Late CT scans can be helpful in this respect. Fistulae are not well demonstrated directly by CT. The fistulogram remains the examination of choice, when possible. Mesenteric lymphadenopathy is small and discrete. Mesenteric lipomatosis can be massive and is often a cause of bowel separations and mass effect.

Adolescent↗

PubMed1982

[Visualization of the pancreas in the prone position with an automated water-coupled multisector scanner (Octoson)].

In a comparative study involving 300 patients the pancreas was demonstrated using the Combison 100 real-time system and the Combison 202 (compound-scanner) with the patients in supine position (without administration of methylcellulose or water) as well as with Octoson with the patient in the prone position. Both studies were performed within 1 hour in each case. Distribution of air in the abdomen is altered when the patient assumes the prone position for the Octoson study, a fact confirmed by 100 radiological examinations. This alteration in the distribution of air (in the abdomen) results in less interference when the pancreas is demonstrated. Other factors influencing visualization of the pancreas include: interposition of subcutaneous and omental fat (which cases absorption and defocussing of the ultrasonic beam) infiltrating of the pancreas by fat (lipomatosis) cutaneous scars, and hair, which disturbs contact between the transducer and the skin.

Humans↗

PubMed2001

Onset of natural killer cell lymphomas in transgenic mice carrying a truncated HMGI-C gene by the chronic stimulation of the IL-2 and IL-15 pathway.

Rearrangements of the high mobility group protein I-C (HMGI-C) gene, consisting in the loss of the carboxyl-terminal tail, have been frequently detected in benign human tumors of mesenchymal origin. We have previously demonstrated that transgenic (TG) mice carrying a truncated HMGI-C construct (HMGI-C/T) exhibit a giant phenotype together with a predominantly abdominal/pelvic lipomatosis. Here, we report that HMGI-C/T TG mice develop natural killer (NK)-T/NK cell lymphomas starting from 12 months of age. We found an increased expression of IL-2 and IL-15 proteins and their receptors in these lymphomas, and we demonstrate that HMGI-C/T protein positively regulates their expression in vitro. Therefore, the HMGI-C/T-mediated chronic stimulation of the IL-2/IL-15 pathway could be responsible for the onset of NK-T/NK cell lymphomas in HMGI-C/T TG mice.

Animals↗