Sarcoidosis and primary biliary cirrhosis. Literature review and illustrative case

An illustrative case of a middle-aged woman with primary biliary cirrhosis and the onset of liver disease coincident with acute, self-limited sarcoidosis is presented. The distinctive characteristics of sarcoidosis and primary biliary cirrhosis are described, and the literature regarding a number of potential relationships between these two disorders is summarized. First, the simultaneous occurrence of primary biliary cirrhosis and sarcoidosis has been documented in a few patients. Second, some of these patients had an overlap syndrome characterized by features of both disorders, inviting speculation regarding a common pathogenesis. Third, in patients with sarcoidosis, advanced cholestatic sarcoid liver disease may develop, which may cause diagnostic confusion with primary biliary cirrhosis. Finally, patients with primary biliary cirrhosis may have pulmonary fibrosis as an associated disease.     

新缩瞳剂包公藤甲素人工合成研究

包公藤甲素是从包公藤(Erycibe obtusifolia Benth.)茎中提得的一个新莨菪烷生物碱,具有强烈的缩瞳作用,临床用于治疗青光眼。本文报道用合成的6β-乙酰氧基托品酮为原料,经卤代、水解、还原和N-去甲基化等反应合成包甲素(8)。经光谱测定证实8与天然包甲素的结构完全一致。合成品系外消旋体,其作用机理与天然品相同,而强度则减半。     

4p16.3 haplotype modifying age at onset of Huntington disease

Huntington disease (HD) is caused by an expanded CAG repeat sequence in the HD gene. Although the age at onset is correlated to the CAG repeat length, this correlation only explains approximately half of the variation in onset age. Less variation between siblings indicates that the variation is, in part, explained by genetic modifiers. We analyzed polymorphic loci within or close to the HD gene on the HD chromosome in Danish HD patients. We found one specific haplotype segregating with later age at onset, compared with patients with similar CAG repeat length and another haplotype. The nine Danish families in the study carrying this haplotype most likely have a common founder. Several of the polymorphic loci displayed alleles that may be specific to the late-onset haplotype, implicating that from this study we cannot determine which of the loci tested (or other polymorphic loci in this chromosomal area) do in fact contain genetic modifiers of age at onset.     

Liver Biopsy for Histological Assessment �C The Case Against

Percutaneous liver biopsy (LB) remains an important tool in the diagnosis and management of parenchymal liver diseases. In current practice, it is most frequently performed to assess the inflammatory grade and fibrotic stage of commonly encountered liver diseases, with the diagnostic role relegated to secondary importance. The role of LB remains a vastly controversial and debated subject, with an ever-increasing burden of evidence that questions its routine application in all patients with liver dysfunction. It remains, essentially, an invasive procedure with certain unavoidable risks and complications. It also suffers shortcomings in diagnostic accuracy since a large liver sample is required for an ideal assessment, which in clinical practice is not feasible. LB is also open to observer interpretation and prone to sampling errors. In recent years, a number of noninvasive biomarkers have evolved, each with an impressive range of diagnostic certainty approaching that achieved with LB. These noninvasive tests represent a lower-cost option, are easily reproducible, and serve as suitable alternatives to assess hepatic inflammation and fibrosis. This article aims to debate the shortcomings of LB while simultaneously demonstrating the diagnostic accuracy, reliability and usefulness of noninvasive markers of liver disease thereby making the case for their utilization as suitable alternatives to LB in many, although not all, circumstances.     

Health-related quality of life after liver transplantation: a meta-analysis.

The goal of this study is to assess health-related quality of life (HRQL) after orthotopic liver transplantation (OLT). Structured MEDLINE and Embase literature searches identified 5473 potentially relevant articles. Thirty-two additional references were collected from the bibliographies. Of the 5505 identified articles, 49 studies reporting data on 3576 transplant recipients met our inclusion criteria, which were an assessment of quality of life (QOL) in adult patients reported as either pretransplantation and posttransplantation data or with a comparison group and written in English. We combined posttransplantation QOL scores from 15 studies that reported data from the same QOL scales to assess the magnitude of the effect of OLT on QOL scales. We also performed a sign test on the 49 studies to evaluate the direction (positive or negative) of the effect of transplantation on QOL. Transplantation resulted in an improvement of 32% in Karnofsky scores, 11% in Sickness Impact Profile scores, and 20% to 50% in the domains of the Nottingham Health Profile. The sign test showed significant improvement in posttransplantation physical health (P <.0004), sexual functioning (P <.008), daily activities (P <.02), general HRQL (P <.02), and social functioning (P <.05), but not psychological health (P <.08). In general, the HRQL of the 3576 patients was impaired pretransplantation and improved posttransplantation. Transplant recipients reported large gains in those aspects of QOL most affected by physical health and smaller improvements in areas affected by psychological functioning.     

Resuscitation decisions in Irish long-stay units

Background  

Little is known of how cardiopulmonary resuscitation (CPR) decisions are made in Irish long-term care settings.     

Pulmonary histiocytosis X: comparison of radiographic and CT findings

The authors retrospectively evaluated radiographs, computed tomographic (CT) scans, and results of pulmonary function tests (when available) for 17 patients with biopsy-proved pulmonary histiocytosis X. In 11 patients, high-resolution CT was used. In 12 patients, CT demonstrated cystic air spaces, usually less than 10 mm in diameter. In three of these 12, cysts were the only abnormality, but in six others, nodules (usually less than 5 mm in diameter) were also present. Two patients had only nodules and one, only emphysema. CT showed that many lesions that appeared reticular on plain radiographs were actually cysts. CT showed no central or peripheral concentration of lesions, but it did reveal that many small nodules were distributed in the centers of secondary lobules around small airways. CT findings correlated better with the diffusing capacity (rho = -0.71) than did the plain radiographic findings (rho = -0.57). Thus, CT was better than radiography at showing the morphology and distribution of lung abnormalities.