B-Twin可膨胀式融合器系统腰椎融合术

目的:介绍B-Twin可膨胀式融合器系统及相关B-Twin椎间融合术的开展情况。方法:应用计算机检索“B-Twin expandable cage,lumbar interbody space fusion,lumbar disc degenerative disease,minimal invasive spinal fusion”;中文期刊检索词“B-Twin、腰椎融合术”。检索工具:Pubmed,google,CNKI中文期刊网。同时有部分国外会议资料。结果:腰椎间盘退行性疾病是临床上引起腰腿痛及功能障碍的一类疾病,目前常用的治疗方法包括保守治疗、微创手术以及外科手术治疗。传统的腰椎融合术多为开放性手术,创伤大,恢复时间长,近年来,可膨胀的B-Twin融合器的应用使经皮腰椎融合术成为可能,并且具有创伤小、恢复快、操作简便、安全性高的特点。结论:可膨胀的B-Twin融合器的应用,使得经皮腰椎融合术成为可能,具有广阔的前景。     

Mutational screening of ACVR1 gene in Brazilian fibrodysplasia ossificans progressiva patients

Carvalho DR, Navarro MMM, Martins BJAF, Coelho KEFA, Mello WD, Takata RI, Speck‐Martins CE. Mutational screening of ACVR1 gene in Brazilian fibrodysplasia ossificans progressiva patients. Fibrodysplasia ossificans progressiva (FOP) is a severe genetic disorder reported worldwide. A specific heterozygous mutation (c.617G> A; p.R206H) in the activin A type I receptor gene (ACVR1) is regarded as the genetic cause of FOP in all classically affected individuals worldwide. However, a few patients with FOP variants harbor distinct mutations in ACVR1. We screened a group of FOP Brazilian population for mutations in ACVR1. Of 16 patients with a classic FOP phenotype (10 males and 6 females, age range of 3–42 years), all had the classic mutation (p.R206H). One 21‐year‐old woman with a variant FOP phenotype had the previously reported c.983G> A mutation (p.G328E). Our study contributes to the understanding of the predominant FOP phenotype and genotype and suggests that variant FOP phenotypes are associated with specific mutations in ACVR1 gene.     

Deprivation,ethnicity and prematurity in infant respiratory failure in PICU in the UK

Aim: To describe the epidemiology of infants admitted to Paediatric Intensive Care (PIC) with acute respiratory failure including bronchiolitis. Methods: Data from all consecutive admissions from 2004 to 2007 in all 29 designated Paediatric Intensive Care Units (PICUs) in England and Wales were collected. Admission rates, risk‐adjusted mortality, length of stay, ventilation status, preterm birth, deprivation and ethnicity were studied. Results: A total of 4641 infants under 1 year of age had an unplanned admission to PIC with acute respiratory failure (ARF), an admission rate of 1.80 per 1000 infants per year. There was a reduced rate of admission with bronchiolitis in South Asian children admitted to PICU, which is not explained by case‐mix. Children born preterm had a higher rate of admission and longer stay, but a similar low mortality. Risk‐adjusted mortality was higher in South Asian infants and the highest in those with ARF (OR 1.76, 95% CI 1.20–2.57) compared with the rest of the PICU population. Conclusion: Acute respiratory failure in infants causes most of the seasonal variation in unplanned admission to intensive care. Socioeconomic deprivation and prematurity are additional risk factors for admission. Fewer South Asian infants are admitted to PICU with a diagnosis of bronchiolitis, but risk‐adjusted mortality is higher in South Asian infants overall.     

13q33.2 deletion: a rare cause of ambiguous genitalia in a male newborn with growth restriction

13q deletion is a rare cause of ambiguous genitalia in the male newborn, and can be associated with mental retardation of varying degree, retinoblastoma, and malformations of the brain, eye, genitourinary and gastrointestinal tract, depending on the level of the deletion. We present a male neonate with ambiguous genitalia and IUGR with a 13q33.2 deletion, and a paternal balanced translocation. Microarray analysis found the genes involved to be on chromosome 13 in the region 102989254bp–109214509bp. This deletion encompasses the EFNB2 gene, which has been implicated in genital malformations in 13q deletion cases. Conclusions: We find a link between haploinsufficiency of the EFNB2 gene and the presence of ambiguous genitalia and hypospadia in patients with a 13q.33 deletion. This work emphasizes the importance of early diagnosis of this condition due to the link with mental retardation and the need for follow up and management.     

Potential oral manifestations of cardiovascular drugs

Oral Diseases (2010) 16 , 769–773 Objective: The aim of this work was to determine the frequency and nature of oral manifestations secondary to use of cardiovascular drugs. Methods: Five hundred and thirty one patients attending an adult cardiology clinic in Saudi Arabia were questioned about the occurrence of oral dryness, dysgeusia, or burning sensation and were clinically evaluated for the presence of oral mucosal or gingival disease. Data were statistically analyzed with chi‐squared tests, odds ratios and Student’s t‐test. Results: Oral symptoms and/or signs were recorded in 75 (14.1%) patients with xerostomia being the most common (7.5%), followed by lichenoid (lichen planus‐like) lesions (3.6%) and dysgeusia (1.9%). Xerostomia was significantly more frequent in patients with a history of diabetes mellitus and in female patients (P < 0.05). There were no statistically significant differences (P > 0.05) between patients with or without oral manifestations when age, gender, cardiovascular risk factor, cardiac disease, type of cardiac drug used or the number of medications were assessed. There was a trend for xerostomia to be less frequent in patients receiving therapy with angiotensin converting enzyme inhibitors and a slight trend of xerostomia to be more likely with increased number of non‐cardiac and total number of agents per subject. The number of non‐cardiac and total medications taken by patients with potential oral manifestations tended to be greater than that of patients without oral manifestations. Conclusions: The frequency of potential oral manifestations in patients receiving cardiovascular agents was 14.1%. The occurrence and character of the oral manifestations had no significant relation with individual cardiac drugs, although there was a trend for oral manifestations to be likely with increasing number of drugs.