多发性硬化诊断标准的进展与解读

多发性硬化是一种中枢神经系统脱髓鞘性疾病,临床特点是病灶播散广泛。本文复习了近30年来多发性硬化诊断标准的进展,并作解读。     

A qualitative exploration of mothers' and fathers' experiences of having a child with Klinefelter syndrome and the process of reaching this diagnosis

Klinefelter syndrome (KS) is a common genetic condition that is currently under-diagnosed. The phenotype is broad, with physical, medical and psychosocial features ranging from mild to severe. When a child is diagnosed with KS, the parents may spend months to years searching for a diagnosis. This study used a qualitative methods approach to explore parents'' experiences of having a child with KS and receiving a diagnosis. Fifteen semistructured one-to-one in-depth interviews were conducted to explore their experiences and views. The interviews were then transcribed, coded and thematically analysed. The interviews revealed that parents had diverse experiences related to: the timing of the diagnosis of their child and reasons why their child was investigated for KS; the information that was provided at the time of diagnosis; the supports that were available and the concerns that parents held for the future of their child. The conclusions from this study were that parents'' experiences of having a child with KS and receiving a diagnosis were complex and multifaceted. This experience was shaped by the timing of when the diagnosis was received, who provided the diagnosis, what information was provided from health-care professionals and that which parents may have encountered on the internet. The long-term experiences for parents were also impacted by the level of support they received. These findings have implications for the process by which KS is recognised by the health-care community and supports available for families.     

Pentraxin 3: an immune modulator of infection and useful marker for disease severity assessment in sepsis

The acute phase protein pentraxin 3 (PTX3) is a pattern recognition receptor involved in regulation of the host immune response. This relatively newly discovered member of the pentraxin superfamily elicits both immunostimulatory and immunoregulatory functions preventing autoimmune pathology and orchestrated clearance of pathogens through opsonization of damage- and pathogen-associated molecular patterns (DAMP/PAMP). Thus, PTX3 has been described as a possible evolutionary precursor to immunoglobulins. While shown to provide protection against specific bacterial and fungal pathogens, persistent elevation of PTX3 levels following initial onset of infection appear to predict poor patient outcome and may contribute to disease sequelae such as tissue damage and coagulopathy. Measurement of PTX3 following onset of sepsis may improve patient risk assessment and thus be useful in guiding subsequent therapeutic interventions including steroidal anti-inflammatory and altered antibiotic therapies. In this review, we summarize the role of PTX3 in inflammatory syndromes and its utility as a marker of sepsis disease severity.     

Is Anesthetic Hip Joint Injection Useful in Diagnosing Hip Osteoarthritis? A Meta-Analysis of Case Series

To assess the diagnostic value of intra-articular anesthetic hip injection in patients with hip pain atypical for osteoarthritis (OA), literature was searched. Included were studies assessing the diagnostic value of anesthetic hip injections in differentiating between pain caused by OA or another source. Pooled estimates of sensitivity and specificity with 95% confidence intervals (CI) were calculated. Of the 1387 potentially eligible articles, nine case series with high risk of bias could be included. The pooled sensitivity was 0.97 (95% CI 0.87, 0.99). Specificity was 0.91 (95% CI 0.83, 0.95). For clinical practice, no recommendation can be made regarding the use of hip injections for diagnosing hip OA. High quality, accurately reported studies are needed to provide better evidence on the diagnostic role of hip injection.