Evaluating the aortic stenosis phenotype before and after the effect of homogentisic acid lowering therapy: Analysis of a large cohort of eighty-one alkaptonuria patients.

AIMS: A large alkaptonuria (AKU) cohort was studied to better characterise the poorly understood phenotype of aortic stenosis of rare disease AKU. METHODS AND RESULTS: Eighty-one patients attended the National Alkaptonuria Centre (NAC) between 2007 and 2020. Nine only attended once. Fifty-one attended more than once and received nitisinone 2 mg daily. Twenty-one attended at least twice without receiving nitisinone. Assessments included questionnaire analysis, standard transthoracic echocardiography, as well as photographs of ochronotic pigment in eyes and ears at baseline when 2 mg nitisinone was commenced, and yearly thereafter. Blood and urine samples were collected for chemical measurement. The prevalence of aortic stenosis and aortic valve replacement were 22.2 and 6.2% in the current group. Aortic maximum velocity (Vmax) was directly related to varying degrees to age (R = 0.58, p < 0.001), systolic blood pressure (R = 0.32, p < 0.05), serum homogentisic acid (sHGA) (R = 0.28, p < 0.05), ochronosis scores (R = 0.72, p < 0.001), and alkaptonuria severity score index (AKUSSI) (R = 0.58, p < 0.001) on linear regression analysis. Age and ochronosis scores were significantly related to Vmax on multiple regression analysis (p < 0.005). Nitisinone decreased sHGA, 24-h urine HGA (uHGA24), ochronosis scores and AKUSSI significantly at all visits post-nitisinone. Nitisinone decreased Vmax change scores at final visit comparison, with a similar pattern at earlier visits. CONCLUSION: Aortic valve disease is highly prevalent in this NAC cohort, and strongly associated with ochronosis and disease severity. Nitisinone decreases ochronosis and had a similar significant effect on Vmax.

In- 111-labeled leukocyte imaging: false-positive study due to acute gastrointestinal bleeding.

A case is reported in which In- 111-labeled leukocytes accumulated in the left colon on a 24-hr delayed image. This was found to be secondary to an upper gastrointestinal bleed in progress at the time of injection of the radiolabeled leukocytes.

Total therapeutic embolization of the kidney for hypertension in a child with a mycotic aneurysm.

A 7-year-old boy with bacterial endocarditis developed renal artery mycotic aneurysm and diffuse distal occlusions of the renal branches. Blood pressure in the patient returned to normal after obliteration of flow to the left kidney with Gelfoam, Ivalon, and a Gianturco coil. An end loop of the coil used for embolization remained in the lumen of the aorta against its lateral side. Improper coil placement did not result in complications; the boy later died due to neurologic and pulmonary complications. We discuss the therapeutic potential of renal embolization, as well as the risks of particulate and ethanol embolization, in the treatment of renal vascular hypertension from mycotic aneurysms.

Abdominal lipoblastomatosis: radiographic, echographic, and computed tomographic findings.

Two cases of lipoblastomatosis in infants are described. Radiography, ultrasonography, and computerized tomography showed well-defined soft-tissue densities embedded within large masses of adipose tissue. This appearance, which may be specific for lipoblastomatosis, correlated precisely with the pathologic appearance of lobules of immature adipose tissue surrounding masses of myxoid tissue.

Growth, Sporulation and Aflatoxin Production by Aspergillus parasiticus on Strained Baby Foods.

The potential for aflatoxin production by Aspergillus parasiticus on strained baby food was evaluated. Four puréed foods were inoculated with the mold and cultured at 15 and 26 C in two series of experiments. The aflatoxigenic mold produced mycelia and sporulated at both temperatures. The foods ranked in mean total yield of aflatoxin (µg/g of substrate) in the following order: peas > squash > green beans > pears. The ranking held consistent for both temperatures. Aflatoxins B1 and G1 were produced in higher percentages than B2 and G2 in each food at both temperatures. At 26 C, total aflatoxin produced ranged from 8 to 71 µg/g of substrate, and at 15 C, the mean for the four foods was from 3 to 50 µg/g of substrate. Temperature and substrate were the primary variables which contributed to sporulation rate, toxin production and toxin ratios. Peas and squash should be considered primary and highly supportive substrates for aflatoxin production if conditions should arise for spores to contaminate the products either during or after processing. Absolute prevention of aflatoxigenic spore contamination in these foods studied is essential. An occasional testing of these foods for aflatoxin seems warranted. A lower temperature during aflatoxin formation decreased the total toxin formed, but did not prohibit aflatoxin occurrence. A lower temperature also tended to divert the type of toxin produced from B1 to the less dangerous G1 and G2. Aflatoxin would appear to be a problem in these foods only under rare and unusual circumstances in relation to processing and consumer usage. If such aflatoxigenic spore contamination should occur, the levels produced would be significant.