Familial form of typical childhood absence epilepsy in a consanguineous context

Causative genes for childhood absence epilepsy (CAE) are unknown partly because families are small or phenotypically heterogeneous. In five consanguineous Tunisian families with at least two sibs with CAE, 14 patients fulfilled the diagnostic criteria for CAE (Epilepsia 1989;30:389–399). Linkage analyses or direct sequencing excluded CACNG2, CACNA1A, CACNB4, and CACNA2D2, orthologs of genes responsible for autosomal recessive (AR) absence seizures in mice. These families will help identify (a) gene(s) responsible for CAE.     

Admission plasma vasopressin levels in children with meningococcal septic shock

Objective Vasopressin (AVP) response has been reported to be inappropriately low in adult established septic shock. We studied admission AVP levels in children with meningococcal septic shock (MSS).Patients and methods All children with meningococcal infection admitted to our PICU between May 2001 and August 2002 were classified as MSS (persistent hypotension despite fluid therapy, with perfusion abnormalities and the need for vasoactive drug infusion for at least 24 h or until death), or meningococal infection without shock (fever and purpura, with or without meningitis). Blood samples were collected at admission and AVP levels were subsequently determined using Nichols Institute Diagnostics vasopressin assay. Eighteen of 19 children with MSS (7 deaths) and 15 without shock (no death) were included.Results In children with MSS median admission AVP level was 41.6 pg/ml (1.4–498.9) and in those without 3.3 pg/ml (1.6–63.8). In children with MSS the AVP level was not correlated with duration of shock and fluid expansion prior to AVP sampling, or with age-adjusted blood pressure and natremia at the time of blood sampling. AVP levels were higher in nonsurvivors, but not significantly so. Only one nonsurvivor had an admission AVP level below 30 pg/ml.Conclusions In our children with established MSS who died the admission AVP level were not inappropriately low. Further studies including serial AVP level assessments are needed before concluding that AVP administration is of little interest in children with MSS.     

The effectiveness of analgesics in traumatic injuries of the extremities

In this study, the effectiveness of different analgesics was investigated in patients who presented to the emergency room with traumatic injuries or fractures of the extremities. We observed 100 patients (42 male, 58 female) who presented to the Konya State Hospital emergency service with isolated traumatic injuries of the extremities. We used different analgesics intravenously or intramuscularly in those patients with a high or moderate level of pain according to a visual analog pain scale. Patient pain levels were assessed 15, 30, and 45 minutes after administration of the analgesics. Metamizole sodium 1 g IV was used in 36 patients and diclofenac sodium 75 mg IM was given to 40 patients; tramadol hydrochloride 100 mg IV was administered to 24 patients. Pain became less severe after 15 minutes in 92% of patients who received tramadol IV; pain became less severe after 30 minutes in 72% of those who received metamizole IV. In contrast, pain became less severe after 45 minutes in 65% of patients who received diclofenac IM. Tramadol was the most effective analgesic and was also more effective earlier than the other analgesics tested.     

Pregnancy-associated plasma protein-A and asthma

Pregnancy-associated plasma protein-A (PAPP-A) is potentially a proatherosclerotic metalloproteinase and a new inflammatory marker. Investigators sought to evaluate the significance of PAPP-A in patients with asthma. Blood samples were collected from 35 patients and 20 control subjects. Serum PAPP-A was determined by enzyme-linked immunosorbent assay. PAPP-A levels of patients with asthma (8.1±5.0 mU/L) were higher than those of the control group (4.9±2.1 mU/L) (P < .01). A significant correlation was noted between serum PAPP-A concentration and asthma severity (r=.581;P < .01). Investigators concluded that PAPP-A may contribute to airway smooth muscle hyperplasia as an insulin-like growth factor-dependent insulin-like growth factor-binding protein-4 protease in patients with asthma.     

Combined antithrombin and protein C supplementation in meningococcal purpura fulminans: a pharmacokinetic study

PURPOSE: To document in patients with meningococcal purpura fulminans (PF), the effects of a combined supplementation with antithrombin (AT) and protein C (PC) plasma concentrates and to estimate the pharmacokinetics and dose requirements of each inhibitor. DESIGN: Retrospective study of 15 patients. SETTING. One paediatric and one adult ICU in a university hospital. INTERVENTIONS: In addition to standard intensive care, all patients received a 100 IU/kg loading dose of AT and PC concentrates, followed by a continuous infusion (AT: 100-150 IU.kg.day; PC: 100 IU.kg.day in adults, and 400 IU/kg in infants). MEASUREMENTS: Clinical data, coagulation, and fibrinolysis parameters, AT and PC activities, and free protein S (PS) levels were sequentially measured. Restitution ratio, median increment after supplementation, and half-life of clearance from plasma were calculated for the two plasma substitutes. RESULTS. At admission, all patients had a severe decrease in AT, PC, and PS levels. The supplementation regimen induced a substantial increase in AT and PC activities, peaking at H18 and H48, respectively. The supplementation procedure did not modify free PS levels. The median values of AT and PC restitution ratio, increment in plasma activity observed after 100 IU/kg concentrate, and apparent half-life of clearance from plasma were 0.85 U.ml.U.kg and 0.59 U.ml.U.kg, 23% and 21%, 16 h and 6 h, respectively. CONCLUSION: If AT and PC concentrates are to be given in fulminant meningococcemia, the doses of supplementation should be at least 150 IU/kg AT and 250 IU/kg PC as loading dose and 150 IU/kg AT and 200 IU/kg PC as daily maintenance therapy. Taking into account the individual variability in inhibitor deficiency and restitution ratio, repeated measurements of plasma levels are mandatory to obtain a patient-based adjustment of the supplementation.     

Vacuum-assisted closure and bilateral pectoralis muscle flaps for different stages of mediastinitis after cardiac surgery

Purpose  

To assess the results of bilateral pectoralis major muscle flaps (BPMMF) and vacuum-assisted closure (VAC) at different stages of postcardiac surgery mediastinitis.     

Live/real time three-dimensional transthoracic echocardiographic identification of quadricuspid aortic valve

We describe an adult in whom live/real time three-dimensional echocardiography was able to make a definite diagnosis of a quadricuspid aortic valve which was misdiagnosed as bicuspid by live two-dimensional transthoracic echocardiography (2DTTE).