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The primary hyperoxaluria type 1 is caused by mutations in the gene coding for the enzyme L-alanine-glyoxylate amino transferase (AGT), which is expressed in the/by liver. Transmission is autosomal: recessive parents are healthy, unknowing carriers of the mutation (especially if there are no affected relations), while each child has a 25% chance of developing the disease. There is also a second type of disease (primary hyperoxaluria type 2), caused by the deficiency of another enzyme, the D-glycerate dehydrogenase, and a third type (hyperoxaluria type 3), identified most recently and caused by the defect in the gene DHDPSL. On the basis of clinical observation and family history, the diagnosis of primary hyperoxaluria can be made through laboratory analysis (measurement of calcium oxalate in urine and blood) and genetic analysis, searching mutations in the gene involved. This article is a case study which involved the nursing staff for a change of approach and caring for a teenager in a world of adults. (sian) (nursing), L'iperossaluria primaria di tipo 1 è causata da mutazioni nel gene codificante per l'enzima L-alanina-gliossilato amino transferasi (AGT), che è espresso nel fegato. La trasmissione avviene con modalità autosomica recessiva: i genitori sono portatori sani della mutazione (e spesso non sanno di averla, soprattutto se non ci sono familiari affetti), mentre ciascun figlio della coppia ha il 25% di probabilità di essere malato. Esiste anche un secondo tipo della malattia (iperossaluria primaria di tipo 2), causato dalla carenza di un altro enzima, la D-glicerato deidrogenasi, e un terzo tipo (iperossaluria di tipo 3), identificato piú di recente e causato dal difetto del gene DHDPSL. Sulla base dell'osservazione clinica ed eventualmente della storia familiare, la diagnosi di iperossaluria primaria può essere formulata grazie a test di laboratorio (misurazione dell'ossalato di calcio nelle urine e nel sangue) e analisi genetica, con ricerca delle mutazioni nel gene coinvolto. La diagnosi e il trattamento precoci sono in grado di ridurre il rischio di evoluzione verso l'IRC e verso complicanze gravi come l'ossalosi sistemica. L'articolo riguarda un caso clinico che ha coinvolto il gruppo infermieristico che ha modificato l'approccio e la presa in carico di un adolescente in un “mondo” di adulti. (sian) (nursing)

Laboratory studies were conducted to determine the feasibility of using biological treatment schemes to decontaminate soil and groundwater contaminated with explosives and petroleum products. The intent of this study was to determine if biological treatment has potential as a treatment alternative and to use knowledge gained in ongoing work at the Joliet Army Ammunition Plant (JAAP), which is using Soil Slurry-Sequencing Batch Reactors (SS-SBRs). Soil samples collected from NAAP and a bacterial consortium capable of tolerating 2,4,6-trinitrotoluene (TNT) were isolated. The co-substrate succinate was required to obtain growth in the presence of TNT. Bench scale feasibility studies were conducted to determine the ability of NAAP soil to be decontaminated in an SS-SBR. The reactors were operated in aerobic and anaerobic conditions. In no case was appreciable removal of TNT evident.

This report presents the results of a study of the feasibility of treating explosives-contaminated soils through biodegradation by bacteria. Soil samples were collected from the Joliet Army Ammunition Plant, and a bacterial consortium tolerant to trinitrotoluene (TNT) was isolated for bench-scale testing in a soil-slurry reaction system. Initial experiments indicated that the consortium can use TNT as a source of carbon, nitrogen, or both. Additional experiments determined system conditions (e.g., type and quantity of nutrients) that enhanced TNT consumption by the consortium. The study results indicate that a soil-slurry/sequencing-batch reactor merits testing as an on-site, pilot-scale system. This report also presents a pilot-scale design and cost analysis. TNT(Trinitrotoluene), Slurry reactor, Biodegradation.