Generalized,severe epidermolysis bullosa simplex caused by a Keratin 5 p.E477K mutation

Epidermolysis bullosa simplex (EBS) is a skin fragility disorder resulting from mutations of structural proteins in the epidermis. We provide a brief report of long‐term survival and reproduction in a mother with EBS due to keratin 5 (KRT5) c.1429G > A (p.E477K) mutation, which causes a particularly severe form of the disease.     

Loss of basal forebrain P75(NTR) immunoreactivity in subjects with mild cognitive impairment and Alzheimer's disease.

The long-held belief that degeneration of the cholinergic basal forebrain was central to Alzheimer's disease (AD) pathogenesis and occurred early in the disease process has been questioned recently. In this regard, changes in some cholinergic basal forebrain (CBF) markers (e.g. the high affinity trkA receptor) but not others (e.g., cortical choline acetyltransferase [ChAT] activity, the number of ChAT and vesicular acetylcholine transporter-immunoreactive neurons) suggest specific phenotypic changes, but not frank neuronal degeneration, early in the disease process. The present study examined the expression of the low affinity p75 neurotrophin receptor (p75(NTR)), an excellent marker of CBF neurons, in postmortem tissue derived from clinically well-characterized individuals who have been classified as having no cognitive impairment (NCI), mild cognitive impairment (MCI), and mild AD. Relative to NCI individuals, a significant and similar reduction in the number of nucleus basalis p75(NTR)-immunoreactive neurons was seen in individuals with MCI (38%) and mild AD (43%). The number of p75(NTR)-immunoreactive nucleus basalis neurons was significantly correlated with performance on the Mini-Mental State Exam, a Global Cognitive Test score, as well as some individual tests of working memory and attention. These data, together with previous reports, support the concept that phenotypic changes, but not frank neuronal degeneration, occur early in cognitive decline. Although there was no difference in p75(NTR) CBF cell reduction between MCI and AD, it remains to be determined whether these findings lend support to the hypothesis that MCI is a prodromal stage of AD.     

456例大小便失禁病人的皮肤护理

目的 保持皮肤清洁,使病人身心舒适;维持病人皮肤完整性,治疗或预防皮肤并发症.方法 ①大小便失禁病人皮肤完整的床上擦浴,bid,排便后及时清洗,用电吹风或红外线照射,保持会阴部、尾骶部皮肤干燥;应用一次性尿垫、阴茎套、留置导尿管等辅助工具接尿;②褥疮护理使用气垫床,翻身防褥疮护理,q2h,对褥疮创面给予换药、湿润烧伤膏外敷,qd;③外阴炎给予达克宁霜或康纳乐霜外涂,tid.结果 入院时皮肤完好的320例病人褥疮发生率为0.5%,皮肤炎发生率为0.85%,尿路感染发生率为1.5%;50例皮肤炎病人全部治愈,86例带入院褥疮治愈率为93%.结论 对大小便失禁的病人实施良好的皮肤护理,可促进病人舒适,维持病人皮肤完整性,治疗和预防皮肤并发症的发生.     

The First‐Episode Psychosis Outcome Study: premorbid and baseline characteristics of an epidemiological cohort of 661 first‐episode psychosis patients

Aims: Studies conducted in first‐episode psychosis (FEP) samples avoid many biases. However, very few studies are based on epidemiological cohorts treated in specialized FEP services. The aim of this file audit study was to examine premorbid and baseline characteristics of a large epidemiological sample of FEP. Methods: File audit study of all patients admitted to the Early Psychosis Prevention and Intervention Centre between 1998 and 2000 using a specialized questionnaire. Results: There were 661 patient files included in the study. Premorbid evaluation revealed high rates of substance use disorder (74.1%), history of psychiatric disorder (47.5%), past traumatic events (82.7%) suicide attempts (14.3%) and family history of psychiatric illness (55.6%). Baseline characteristics revealed high intensity of illness (mean CGI 5.5), high prevalence of lack of insight (62%) and high rate of comorbidity (70%). Conclusion: High rates of traumatic events or episodes of mental illness before treatment for FEP must be considered when designing treatment approaches because a too narrow focus on positive psychotic symptoms will inevitably lead to incomplete treatment. Additionally, early intervention programmes need sufficient range of resources to address the multiple challenges presented by FEP patients such as high severity of illness, comorbidities and functional impairment. Finally, observation of an important degree of functional impairment despite short duration of untreated psychosis suggests that while early detection of FEP is a necessary step in early intervention, it may not be sufficient to improve functional recovery in psychosis and that efforts aimed at identifying people during the prodromal phase of psychotic disorders should be pursued.     

MRI evaluation of bulky tumor masses in the mesentery and bladder involvement in peritoneal carcinomatosis

AIM: Peritonectomy procedures with intraperitoneal chemohyperthermia are an effective but costly treatment for peritoneal carcinomatosis (PC). Consequently a proper selection of patients is necessary. We evaluated the benefit of MRI prior to surgery, in the detection of two of the main surgery contraindications: bulky mesenteric tumors and bladder implants. METHODS: Three experts retrospectively reviewed abdominal and pelvic MRI from 19 cases of surgically proved PC (ovary: 7; colorectal: 7; gastric: 2; pseudomyxoma peritonei: 2; appendix: 1). RESULTS: Mesenteric tumors were always identified as hypersignal masses on axial and coronal fat suppression gadolinium-enhanced T1 images (n=3). Three out of five bladder implants were detected. The two cases of bladder implants that were not detected on MRI were missed because the bladder was not filled. The best sequence for the detection of bladder involvement was axial T2-weighted images with bladder filling. CONCLUSIONS: Evaluating the preoperative resectability of PC is crucial for patient management. MRI seems to reliably detect bulky mesenteric tumors and bladder implants on condition the bladder is filled and appropriate sequences are used.     

Issues and challenges in staging of pressure ulcers.

Wound assessment is a key element of effective wound care, and assessment of pressure ulcers includes accurate determination of wound stage. Although the original staging system established by Shea was based on his understanding of the pathology involved in pressure ulcer development, subsequent staging systems (and the one currently in use) were intended simply to establish the level of tissue damage. Recently, clinicians have drawn attention to numerous limitations associated with the current staging system, including the inability to differentiate between an inflammatory response involving intact skin and a deep tissue injury (deep bruising) underneath intact skin. This is a clinically significant difference because clinicians have noted that most inflammatory responses resolve with intervention, whereas most areas of deep tissue injury progress to full-thickness ulcers even when appropriate intervention is provided. A second area of controversy involves partial-thickness (Stage 2) lesions; because many of these lesions are caused by maceration and/or friction (as opposed to pressure) clinicians are frequently unclear regarding which of these lesions should be staged. In response to these concerns, the National Pressure Ulcer Advisory Panel convened a consensus forum and published white papers to clearly outline the issues; they solicited clinician feedback on the white papers and the Wound, Ostomy, Continence Nurses Society provided a written response. This article summarizes the key points of the white papers, WOCN Society response, and consensus forum discussion.