Detection of genomic deletions of PKP2 in arrhythmogenic right ventricular cardiomyopathy

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited myocardial disease that predominantly affects the right ventricle and is associated with ventricular arrhythmias that may lead to sudden cardiac death. Mutations within at least seven separate genes have been identified to cause ARVC, however a genetic culprit remains elusive in approximately 50% of cases. Although negative genetic testing may be secondary to pathogenic mutations within undiscovered genes, an alternative explanation may be the presence of large deletions or duplications involving known genes. These large copy number variants may not be detected with standard clinical genetic testing which is presently limited to direct DNA sequencing. We describe two cases of ARVC possessing large deletions involving plakophilin‐2 (PKP2) identified with microarray analysis and/or multiplex ligation‐dependent probe amplification (MLPA) that would have been classified as genotype negative with standard clinical genetic testing. A deletion of the entire coding region of PKP2 excluding exon 1 was identified in patient 1 and his son. In patient 2, MLPA analysis of PKP2 revealed deletion of the entire gene with subsequent microarray analysis demonstrating a de novo 7.9 Mb deletion of chromosome 12p12.1p11.1. These findings support screening for large copy number variants in clinically suspected ARVC cases without clear disease causing mutations following initial sequencing analysis.     

Conceptual issues specifically related to health-related quality of life in critically ill patients

During recent years increasing attention has been given to the quality of survival in critical care. Health-related quality of life (HRQOL) is an important issue both for patients and their families. Furthermore, admission to the intensive care unit can have adverse psychological effects in critically ill patients. Recent studies conducted in critically ill patients have measured HRQOL. However, usually absent from such reports are evaluations of conceptual issues, addressing factors such as why HRQOL should be measured in critically ill patients, how to define and standardize domains of HRQOL, whether proxies can provide useful information about HRQOL in critically ill patients, whether response shift occurs in critically ill patients, and whether post-traumatic stress disorder (PTSD) occurs in critically ill patients. Some studies reported moderate agreement between patients and their proxies, although lower levels of agreement may be reported for psychosocial or physical functioning. Response shift (adaptation and change in perception) appears to be an important phenomenon and likely to be present, but it is seldom measured when estimating HRQOL in critically ill patients. Furthermore, vigilance for symptoms of PTSD and early interventions to prevent PTSD are needed.     

Liver metastasis of a mucinous colonic carcinoma mimicking a haemangioma in T2‐weighted sequences

We report the case of a patient with a single liver metastasis of a mucinous colonic carcinoma that mimics a haemangioma in T2‐weighted sequences. Although a very high T2 signal in non‐cystic lesions is highly specific for the diagnostic of haemangioma, the use of gadolinium‐enhancement MRI is recommended. In patients with a history of neoplasia, the diagnosis of benign liver nodules should be made with caution.     

Visual impairment in severe and profound sensorineural deafness

The frequency of reversible and irreversible visual impairment was determined in children with severe and profound sensorineural deafness, as subnormal vision can adversely affect their educational and social development. Eighty three of 87 such children attending an audiology service were examined to assess the incidence and severity of visual impairment. Each child underwent a detailed ophthalmic assessment. The criteria for visual impairment were visual acuity < 6/9 Snellen or equivalent and/or abnormal binocular vision. Forty five had a normal ophthalmic examination (54.2%). Twenty nine had visual impairment (34.9%) and nine had ophthalmological abnormalities that did not interfere with vision (10.9%). A higher proportion of children with risk factors for visual pathology demonstrated visual impairment than those in whom there were no risk factors. None the less, 44% of visual impairment was among patients without risk factors. The results underline the need to examine all children with severe and profound sensorineural deafness soon after diagnosis and indicate that children with multiple handicaps have a greater likelihood of visual impairment (11 of 14 cases).     

Ultrasound screening of families with abdominal aortic aneurysm

Recent observations suggest that first degree relatives of patients with an abdominal aortic aneurysm (AAA) are also at risk for the development of this disorder. The first degree relatives of 130 adults with known AAA were invited to attend for an ultrasound examination. Fifty-two eligible relatives (mean age 53 years, range 41–73) from 38 families underwent sonographic screening. Using standard ultrasound criteria no participants were identified with an asymptomatic AAA. Thus, ultrasound of families of patients with AAA has a low yield and may not be useful for screening purposes.     

Oesophageal cancer in patients with head and neck cancers: therapeutic implications

AIM OF THE STUDY: To determine therapeutic and prognostic implications of an associated head and neck primary cancer in patients undergoing oesophagectomy for squamous cell carcinoma of the oesophagus. PATIENTS AND METHODS: Between 1982 and 2000, 868 patients with oesophageal cancer were operated in our institution, including 78 (9%) who underwent oesophagectomy for associated oesophageal and head and neck cancers; the latter was synchronous (n = 52) or anterior metachronous (n = 26). Influence of head and neck cancer on the treatment of oesophageal carcinoma was analysed retrospectively in terms of surgical therapeutic strategy and survival. RESULTS: Oesophageal resection consisted of oeso-pharyngolaryngectomy (n = 14, 17.9%), subtotal oesophagectomy (n = 62, 79.5%) and cervical oesophagectomy (n = 2, 2.6%). Radical resection (R0) was obtained in 85% of cases. Postoperative mortality rate was 5 % (4/78). Main complications were pulmonary (18% = 14/78) and anastomotic leaks (14% = 11/78), all of them cervical. Follow-up (mean = 25 +/- 27 months) was complete for all 78 patients. Five-year survival after R0 resection was 25%. Survival pronostic factors were denutrition, complete resection, and pT status of oesophageal tumor. CONCLUSION: In patients with associated carcinomas of oesophagus and head and neck, agressive treatment -including an oesophagectomy- allowed a 5-year survival rate more than 25% without increased mortality or morbidity rates, compared with patients operated on for isolated oesophageal carcinoma.     

颅内动脉瘤栓塞后并发脑缺血的原因分析

1 临床资料我们总结2004-02/2004-06在第四军医大学唐都医院神经外科住院行栓塞治疗颅内动脉瘤患者27(男12,女15)例,年龄32～72岁.