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.     

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.     

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.     

Hypointense transcerebral veins at T2*-weighted MRI: a marker of hemorrhagic transformation risk in patients treated with intravenous tissue plasminogen activator.

Prediction of hemorrhagic transformation (HT) in patients treated by intravenous recombinant tissue-type plasminogen activator (rt-PA) is a challenging issue in acute stroke management. HT may be correlated with severe hypoperfusion. Signal changes may be observed at susceptibility-weighted magnetic resonance imaging (MRI) within large perfusion defects. A signal drop within cerebral veins at T2*-weighted gradient-echo MRI may be expected in severe ischemia, and may indicate subsequent risk of HT. The authors prospectively searched for an abnormal visibility of transcerebral veins (AVV) within the ischemic area in patients with hemispheric ischemic stroke, before they were treated with intravenous rt-PA therapy. Any correlation between AVV and baseline clinical or MRI findings, or further HT, was noted. An AVV was present in 23 of 49 patients (obvious, n = 8; moderate, n = 15), and was supported by severe hemodynamic changes at baseline MRI. The AVV was correlated with the occurrence of parenchymal hematoma type 2 at computed tomography during the first week (r = 0.44, P = 0.002). Five of six type 2 parenchymal hematomas occurred in association with obvious AVV. At multiple regression analysis, two baseline MRI factors had an independent predictive value for HT risk during the first week: the AVV and the cerebral blood volume ratio (Nagelkerke R2 = 0.48).     

Cerebrospinal fluid investigations in tuberculous meningitis.

The results of conventional cerebrospinal fluid (CSF) investigations (CSF cell count, protein and glucose concentrations and Pandy's test for CSF globulin) obtained on admission and sequentially from weekly follow-up lumbar punctures for 4 weeks were evaluated in 99 children (median age 28 months) with stage II (50 children) and stage III (49 children) tuberculous meningitis. On admission, six children (6%) had a CSF cell count greater than 500 x 10(6)/l and nine (9%) a polymorphonuclear predominance. A CSF protein less than 0.8 g/l was found in 17 children (18%) of 97 in whom CSF protein was evaluated. Globulin was either absent or present as a trace only in 26 children (27%). CSF glucose was less than 2.2 mmol/l in 58 cases (60%) and less than 2.5 mmol/l in 67 (69%). In 63 children weekly CSF specimens obtained for the 1st 4 weeks of therapy showed an uninterrupted decline in cell count in 23 (37%), a fluctuating downward trend in 27 (43%) and a fluctuating upward trend in 13 (21%). Sequential CSF protein values in 57 children showed an uninterrupted rise in three (5%), a fluctuating upward course in 19 (33%), an uninterrupted downward trend in seven (12%), and a fluctuating downward course in 28 (49%). Of the 61 children in whom sequential CSF glucose concentrations were available, 11 (18%) experienced fluctuating concentrations, values falling to less than 2.2 mmol/l after being greater than 2.2 mmol/l on admission or after having risen to greater than 2.2 mmol/l.(ABSTRACT TRUNCATED AT 250 WORDS)     

Raised intracranial pressure,the syndrome of inappropriate antidiuretic hormone secretion,and arginine vasopressin in tuberculous meningitis

Intracranial pressure (ICP) monitored shortly after admission over a period of 1 h in 31 children with tuberculous meningitis (TBM) was significantly higher (median 22.5 mm Hg, range 8.4–50.9 mmHg) in 19 children with laboratory evidence of the syndrome of inappropriate antidiuretic hormone secretion (SIADH) than in 12 children without such evidence (median 16.2 mmHg, range 5.8–42.5 mmHg; P = 0.027). Neither plasma nor cerebrospinal fluid arginine vasopressin (AVP) was related to ICP (r = 0.33 and 0.13 respectively). Mean arterial pressure (MAP) was measured in 23 children and a moderate correlation was found with plasma AVP (r = 0.62; P = 0.0019). In TBM, plasma AVP may be secreted as a response to raised ICP in an effort to raise MAP and maintain cerebral perfusion pressure. In this setting excess fluid may be inappropriately retained, leading to hyponatremia and hypo-osmolemia.