Vitreous amyloidosis after liver transplantation in patients with familial amyloid polyneuropathy: ocular synthesis of mutant transthyretin.

Vitreous amyloidosis has been reported in patients with familial amyloidotic polyneuropathy (FAP) who are carriers of different mutant transthyretins (TTR). The mutant TTR constitutes the majority of the amyloid vitreous fibrils in heterozygous Val30Met patients. Due to the ocular synthesis of TTR, it is possible that the retina constitutes the source of vitreous amyloid fibrils, if so, orthotopic liver transplantation (OLT) performed to remove the mutant TTR from circulation might not be effective in treating/avoiding vitreous amyloid. We present vitreous amyloidosis in a FAP patient from Maiorca with ATTR Val30Met who underwent OLT at age 38. Progressive impairment of visual acuity (VA) appeared bilaterally 2 years after OLT due to vitreous opacities consistent with amyloid; successful bilateral vitrectomy was performed. Amyloid was demonstrated in the vitrectomy material by Congo red staining, immunohistochemistry and Western blotting analyses were positive with an antibody for human TTR. Mass spectrometry of TTR revealed the presence of the mutant in approximately 20% of the TTR. Future structural studies on vitreous material with different proportions of normal/versus mutant TTR might shed some light on TTR fibrillogenesis. These results show that vitreous deposition of TTR amyloidfibrils occurs after OLT, suggesting that ongoing intraocular synthesis of mutant TTR might contribute to this process. We also present the progression after OLT of vitreous amyloidosis previously diagnosed in three patients with TTR Val71Ala.

Effect of storage on fructan and fructooligosaccharide of onion (Allium cepa L.).

The purpose of this study was a comparative examination of the fructan and fructooligosaccharide (FOS) content of different varieties of onions (Allium cepa L. cv. Sturon, Hysam, Durco, Grano de Oro, and Caribo) and the changes produced during their commercial storage. In fresh onions, the Grano de Oro variety presented a remarkably different behavior, showing low contents of total fructans and FOS and high levels of reducing sugars. In the other varieties, Sturon, Hysam, Durco, and Caribo, fructans were the main carbohydrates, the lowest polymerized FOS being the major oligomer. Storage period caused in these varieties important increased levels of free fructose attributed to fructan hydrolysis. Maleic hydrazide treatment had no significant effect in avoiding the hydrolysis of fructans during storage conditions for the Sturon variety. Varieties with >16% dry matter or 15% soluble solids contents could be stored for 6 months at 0 degrees C and 60-65% relative humidity.

Modifications to physicochemical and nutritional properties of hard-To-cook beans (Phaseolus vulgaris L.) by extrusion cooking.

The objective of this work was to evaluate extrusion cooking as a means to improve the nutritional properties of Phaseolus vulgaris L. that had been stored either at 42 degrees C and 80% relative humidity for 6 weeks or for periods >1 year in cereal stores in tropical conditions. Storage under these conditions resulted in an increase in cooking time increased (7.7- and 12-fold, respectively) as a result of development of the hard-to-cook (HTC) defect. Single-screw extrusion of the milled beans was carried out at four barrel temperatures and two moisture contents. The extrudate bulk density and water solubility index decreased with increasing temperature, whereas the water absorption index increased due to the higher proportion of gelatinized starch in the extruded samples. Both fresh and HTC beans contained nutritionally significant amounts of lectins, trypsin, and alpha-amylase inhibitors, which were mostly inactivated by extrusion. Extrusion also caused a considerable redistribution of insoluble dietary fiber to soluble, although the total dietary fiber content was not affected. Changes in solubility involved pectic polysaccharides, arabinose and uronic acids being the main sugars involved. Stored beans subjected to extrusion cooking showed physical and chemical characteristics similar to those of extrudates from fresh beans.

[Extramedullary plasmacytoma and hypercalcemia]. / Plasmocitoma extramedular e hipercalcemia.

Extramedullary plasmocytoma (EMP) is an infrequent entity characterized by the proliferation of malignant plasma cells which are generally found on the mucosa of the upper respiratory tract. A case of EMP located in the right maxillary sinus is referred. Peculiarities of the same were resistance to radiotherapy with local relapse and severe hyperkalemia. Despite deliberate searching, disease dissemination could not be demonstrated.

[Liver transplantation for the treatment of type I familial amyloidotic polyneuropathy]. / Trasplante hepático para el tratamiento de la polineuropatía amiloidótica familiar tipo I.

The first liver transplantation carried out in Spain for the treatment of type I familial amyloidotic polyneuropathy (FAP I) is presented. The reason for the operation was based on the liver being responsible for the synthesis of abnormal transtirretin (TTR) constituting the peculiar amyloid of the disease. Following transplantation a rapid and noticeable decrease in abnormal TTR was observed and the evolution of the clinical picture after 18 months of surgery is favorable with progressive improvement of the neurologic symptoms and normal function of the graft. These encouraging results coincide with those of the Swedish group of Umea, the pioneer of this procedure.

[Pheochromocytoma: a motley tumor]. / Feocromocitoma: un tumor abigarrado.

Four patients admitted to our hospital with different symptomatology are studied: a 9-years-old boy with hyperhidrosis; a 47-years-old woman with arterial hypertension and two young males, 25 and 36-years-old, respectively, with thoracic pain. In all cases, the presence of pheochromocytoma was suspected. One of them died due to left ventricular failure with acute lung edema. The other three patients were diagnosed by hormonal determinations, detecting a supra-renal body with abdominal echography and computerized axial tomography and undergoing surgery. Currently, they are asymptomatic.

Nasal septal perforation in a patient with subclinical celiac disease: a possible new association.

A female patient presented with nasal septal perforation that did not respond to conventional therapeutic management. Later, because of a malabsorption problem in one of her children, she underwent analytic tests and distal duodenal biopsy, which revealed that she was suffering from subclinical/silent celiac disease. The treatment, a gluten-free diet, unexpectedly resulted in the cessation of the destructive nasal process. Four years later, the patient remains asymptomatic. Nasal septal perforation might constitute a new entity associated with celiac disease hitherto not described in the literature.

Cold urticaria associated with acute serologic toxoplasmosis.

Cold urticaria is defined as a urticarial and/or angioedematous reaction of the skin to contact with cold objects, water or air. Types of urticaria associated with infectious diseases, such as mononucleosis, rubeola, varicella, syphilis, hepatitis, and HIV infection have been reported. We present the case of a patient who developed cold urticaria associated with acute serologic toxoplasmosis. The patient was a 34-year-old man who for the previous 2 months had presented cutaneous pruritus accompanied by several papular lesions in parts of the skin exposed to cold as well as those in contact with cold water. The result of an "ice-cube test" was positive. Serologic tests for Toxoplasma gondii showed an IgG level of 68 UI/ml and were positive for IgM, while a test for cryoglobulins was positive. One month later cryoglobulins were negative and a serologic test for T. gondii showed an IgG concentration of 75 UI/ml and positive IgM. Three months later cryoglobulins were still negative, IgG for T. gondii was 84 UI/ml, and IgM was positive. After 6 months cryoglobulins were still negative, IgG level was 68 UI/ml and IgM was still slightly positive. In the final evaluation, 14 months later, IgG level was 32 UI/ml and IgM was negative. The patient continues to present clinical manifestations of cold urticaria, although he has experienced some improvement and his tolerance to cold has increased after treatment with cetirizine.