A patient-reported outcome measure for patients with pituitary adenoma undergoing transsphenoidal surgery

Pituitary - Pituitary adenomas affect patients’ quality-of-life (QoL) across several domains, with long-term implications even following gross-total resection or disease remission. While...     

Small-intestinal mucosa in pseudoobstruction syndromes

The purpose of this investigation was to determine the frequency and severity of small intestinal mucosal damage in pseudoobstruction syndromes. One hundred eighty-nine interpretable biopsies from 12 patients were blindly reviewed by two investigatiors. The underlying disorders were scleroderma in 7 and idiopathic intestinal pseudoobstruction in 5. All 12 had small-intestinal dilatation on small-bowel series. Eight of the 12 patients had biopsies characterized by moderate, to severe mucosal damage; 3 of these had some biopsies which were flat. The damage did not correlate with: (1) types and numbers of organisms recovered from small intestinal aspirates; (2) duration of illness; (3) degree of dilatation of the proximal small bowel; (4) concentrations of deconjugated bile salts in small intestinal fluid; or (5) amount of fat absorbed in fat-balance studies. We conclude that mucosal damage is common in pseudoobstruction syndromes. The pathogenesis of the damage and its relationship to intraluminal bacteria remain undefined.     

Application of cross-species color banding (RxFISH) in the study of T-prolymphocytic leukemia

BACKGROUND AND OBJECTIVE: Cross-species color banding (RxFISH) is a new FISH technology based on the use of differentially labeled gibbon chromosome probes to obtain a specific color banding pattern for each human chromosome. The aim of the study was to test the RxFISH technique for better characterization of complex karyotypes in patients with T-prolymphocytic leukemia (T-PLL). DESIGN AND METHODS: The study evaluated the cross-species color banding technique in four patients affected with T-PLL previously studied by conventional cytogenetics. RESULTS: All patients showed an abnormal karyotype and three of them had a complex karyotype. The involvement of 14q11 in all four cases, the gain of 8q in three cases and a loss of chromosome 10, 15 and 17 and a gain of chromosome 21 in two cases were noted. The RxFISH technique identified from 2 to 7 not previously recognized aberrations per case and confirmed the inv(14)(q11q32). INTERPRETATION AND CONCLUSIONS: To our knowledge, this is the first application of RxFISH to characterize chromosomal rearrangements in T-cell neoplasms. RxFISH gave rapid and easy identification of chromosome rearrangements that were difficult to recognize by conventional cytogenetics. Using this new technology we identified 15 rearrangements not detected by conventional cytogenetics.     

The tumor suppressor SirT2 regulates cell cycle progression and genome stability by modulating the mitotic deposition of H4K20 methylation

The establishment of the epigenetic mark H4K20me1 (monomethylation of H4K20) by PR-Set7 during G₂/M directly impacts S-phase progression and genome stability. However, the mechanisms involved in the regulation of this event are not well understood. Here we show that SirT2 regulates H4K20me1 deposition through the deacetylation of H4K16Ac (acetylation of H4K16) and determines the levels of H4K20me2/3 throughout the cell cycle. SirT2 binds and deacetylates PR-Set7 at K90, modulating its chromatin localization. Consistently, SirT2 depletion significantly reduces PR-Set7 chromatin levels, alters the size and number of PR-Set7 foci, and decreases the overall mitotic deposition of H4K20me1. Upon stress, the interaction between SirT2 and PR-Set7 increases along with the H4K20me1 levels, suggesting a novel mitotic checkpoint mechanism. SirT2 loss in mice induces significant defects associated with defective H4K20me1–3 levels. Accordingly, SirT2-deficient animals exhibit genomic instability and chromosomal aberrations and are prone to tumorigenesis. Our studies suggest that the dynamic cross-talk between the environment and the genome during mitosis determines the fate of the subsequent cell cycle.     

Enfermedad hepática crónica asociada a la cirugía de Fontan

ObjectiveTo review the pathophysiology of Fontan-associated liver disease, its histologic changes, and its radiologic manifestations.ConclusionsFontan-associated liver disease is the result of a set of structural and functional changes in the liver that occur secondary to hemodynamic changes brought about by Fontan surgery. The radiologic manifestations of Fontan-associated liver disease consist of changes in the size and shape of the liver, alterations in the signal intensity or pattern of enhancement, abnormalities in the vascular structures, and focal lesions, which include benign nodules with intense uptake in the arterial phase and hepatocellular carcinoma. Radiologists need to be familiar with this disease and its complications, because the number of patients who undergo Fontan surgery continues to increase, and these patients undergo an increasing number of imaging tests.     

Tuberculosis recurrences: reinfection plays a role in a population whose clinical/epidemiological characteristics do not favor reinfection

BACKGROUND: Tuberculosis (TB) recurrences can be due to either reactivation by the same strain (standard assumption) or reinfection by a new strain. Reinfection has mainly been studied in selected populations with a high risk of reexposure to TB. Our aim was to analyze the role of reinfection in TB recurrences in unselected populations, without the clinical/epidemiological circumstances that favor the involvement of a new different strain of Mycobacterium tuberculosis in the recurrence. METHODS: A molecular typing analysis was performed with 92 sequential isolates of M tuberculosis from 43 patients with recurrent TB, during a 12-year period. The subjects were both positive and negative for the human immunodeficiency virus, most did not adhere to anti-TB therapy, and they lived in an area with a moderate incidence of TB. Recurrence was considered as being caused by reinfection when the molecular fingerprints for the strains involved in the sequential episodes of TB were different. RESULTS: In 14 (33%) of the 43 patients, different M tuberculosis strains were involved in the first and in subsequent episodes of TB. Reinfection was found for patients who were both positive and negative for the human immunodeficiency virus, and most patients did not adhere to anti-TB therapy. Differences between the reinfection and reactivation groups were not significant (P =.77) according to the time interval between episodes. CONCLUSIONS: Reinfection plays an important role in recurrent TB in a population without the clinical/epidemiological circumstances that are usually assumed to favor it. Reinfection should, thus, be considered as a cause of TB recurrences in a wider context than before.