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.     

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.     

OVERHEATING IN BED AS AN IMPORTANT FACTOR IN MANY COMMON DERMATOSES

Background. Extensive questioning of patients with a wide variety of skin disorders led to the impression that nocturnal overheating was probably an important factor in the initiation and the perpetuation of many skin disorders. Methods. In order to test the hypothesis, 12 “clean-skinned” subjects (6M/6F) aged 18 to 45 years were monitored electronically every 30 seconds during an 8 hour sleep period (2300 to 0700 hours), sleeping under a standard 10 tog duvet. Results. All the subjects were too hot by 3 to 4°C. All showed changes in their EEG patterns with reduced REM sleep, increased awakenings, and all showed changes in their sleep stage patterns. In addition, they all showed evidence of increased sweating in the “heat-sink” area. Conclusions. The mechanisms where by such changes could be implicated in the precipitation and perpetuation of skin disease are discussed. “Lifestyle” modification as a very effective, noninvasive, therapeutic regime is recommended. Further research along these lines would probably be very valuable and instructive.     

Anastomosis of the cervical trachea in children.

Numerous techniques for the surgical management of laryngotracheal stenosis in children have been described in the literature. These surgical modalities include endoscopic management and open laryngotracheal reconstruction using costal cartilage grafts for expansion of the stenotic subglottic region. Although tracheal resection with primary reanastomosis for the management of tracheal stenosis is reported frequently in the adult population, children rarely have stenotic lesions that are amenable to this particular technique. Laryngotracheal stenosis in children most commonly involves the subglottis. This makes tracheal resection with anastomosis technically difficult to perform, due to the close proximity of the vocal cords. We have found a subpopulation of children at our institution with high tracheal stenoses, with minimal lower subglottic involvement, who were amenable to tracheal resection with primary anastomosis. We review our experience with this technique. The indications for this surgical modality in children are discussed, as well as the surgical technique.     

Treatment of refractoriness to platelet transfusion by protein A column therapy

Ten thrombocytopenic patients (platelets < 10–24 × 10(9)/L) who were refractory to platelet transfusion were investigated for their responsiveness to staphylococcal protein A column therapy. Nine patients had previously been treated with steroids, intravenous immune globulin, and/or other forms of immunosuppressive therapy without improvement in their transfusion response. All patients were receiving multiple platelet transfusions without achieving 1-hour corrected count increments (CCIs) > or = 7500. Eight patients had antibodies that reacted with platelets and were directed against HLA class I antigens, ABO antigens, and/or platelet-specific alloantigens. Plasma (500-2000 mL) from each patient was passed over a protein A silica gel column and then returned to the patient. Patients received from 1 to 14 treatments. A positive response to protein A therapy was defined as at least a doubling of the pretreatment platelet count and/or two successive 10- to 120-minute posttransfusion CCIs > or = 7500. Following plasma treatments, 6 of 10 patients responded with daily platelet counts that averaged 48 +/− 11 × 10(9) per L as compared with counts of 16 +/− 7 × 10(9) per L (p < 0.0005) before treatment. Posttransfusion CCI values determined in four of these patients averaged 2480 +/− 810 and 10,010 +/− 3540 (p < 0.005) before and after treatment, respectively. In contrast, among the four unresponsive patients, platelet counts averaged 10 +/− 9 and 13 +/− 10 × 10(9) per L (p = NS), respectively, while posttransfusion CCIs were 700 +/− 1410 and 1520 +/− 2460 (p = NS), respectively.(ABSTRACT TRUNCATED AT 250 WORDS)     

Stent placement for benign pancreatic diseases: correlation between ERCP findings and clinical response.

OBJECTIVE. We performed a study to determine if the appearance of the pancreatic duct on ERCP before and after placement of pancreatic duct stents correlates with the therapeutic response in patients treated for impaired pancreatic drainage. MATERIALS AND METHODS. Findings in 29 consecutive patients with a variety of benign pancreatic diseases in whom pancreatic stents were placed and subsequently removed within a 3-year period were reviewed retrospectively. Early (1-5 days) and late (1-3 months) clinical outcomes after stent placement were assessed. These findings were correlated with a blinded interpretation of ERCP findings (Cambridge criteria were used) before and after stent placement. RESULTS. ERCP findings before stent placement were normal in 10 patients. At the end of stent therapy, ERCP showed changes associated with chronic pancreatitis in all 10; five had focal narrowing at the tip of the stent. Subsequent ERCP studies in five of these 10 patients showed that ductal changes induced by stents diminished after stent removal. Of the 19 patients with abnormal findings on ERCP at the time of stent placement, ERCP at the end of stent therapy showed some improvement in seven patients, no change in eight, and deterioration in four. Changes seen on ERCP had no statistically significant correlation with clinical outcome (p = .36). CONCLUSION. Our findings show that pancreatic duct stents can induce abnormalities on ERCP indicative of chronic pancreatitis. However, diminution of these abnormalities after stent removal in some patients suggests that these changes may be due to edema rather than to fibrosis. Ductal changes seen on ERCP are not a useful guide for determining the degree of response to pancreatic stents.