Severe generalized junctional epidermolysis bullosa (JEB), a lethal genodermatosis, is mainly caused by premature termination codons (PTCs) in one of the three genes encoding the anchoring protein laminin-332. Only symptomatic treatment has been established; overcoming PTCs by aminoglycosides may represent an interesting alternative. This retrospective study aimed at assessing for the first time the clinical effects of systemic gentamicin application in infants with severe generalized JEB. Five patients, homozygous or compound-heterozygous for PTCs in the gene LAMB3, were treated with gentamicin which was administered intravenously or by intramuscular injection at doses of 7.5 mg/kg/d for three weeks. Skin biopsies were investigated by immunofluorescence analyses. Clinical effects of the medication were recorded with a parent questionnaire and by assessing weight-for-age charts. Gentamicin application was well tolerated, long hospitalization was not required. Low levels of laminin-332 could be detected in a skin sample obtained after treatment. Gentamicin had a positive impact on skin fragility and daily life in four patients but did not influence weight gain and failed to reverse the lethal course of the disease. Gentamicin injections should be considered regularly in cases of severe generalized JEB caused by PTCs as they may attenuate JEB symptoms without impeding quality of life.

A simple, rapid, and sensitive method for the determination of iron in serum or plasma is described.The procedure is carried out at room temperature with 2 ml. of serum or plasma, or with 1 ml. if high values are expected; it can be applied to turbid or jaundiced samples, whether previously frozen or not.An ethanolic solution of 4: 7-diphenyl-1: 10-phenanthroline is used to produce a coloured iron complex, the optical density of which can be measured in any suitable photometer, using either 10 or 20 mm. fused glass cuvettes or matched tubes of 1.1 cm. internal diameter.

Rationale: Aneurysmal subarachnoid hemorrhage (SAH) has high morbidity and mortality. While the primary injury results from the initial bleeding and cannot currently be influenced, secondary injury through vasospasm and delayed cerebral ischemia worsens outcome and might be a target for interventions to improve outcome. To date, beside the aneurysm treatment to prevent re-bleeding and the administration of oral nimodipine, there is no therapy available, so novel treatment concepts are needed. Evidence suggests inflammation contributes to delayed cerebral ischemia and poor out-come in SAH. Some studies suggest a beneficial effect of anti-inflammatory glucocorticoids, but there are no data from randomized controlled trials examining the efficacy of glucocorticoids. Therefore, current guidelines do not recommend the use of glucocorticoids in SAH. Aim: The Fight INflammation to Improve outcome after aneurysmal Subarachnoid HEmorRhage (FINISHER) trial aims to determine whether dexamethasone improves outcome in a clinically rele-vant endpoint in SAH patients. Methods and design: FINISHER is a multicentre, prospective, randomized, double-blinded, place-bo-controlled clinical phase III trial which is testing the outcome and safety of anti-inflammatory treatment with dexamethasone in SAH patients. Sample size estimates: 334 patients will be randomized to either dexamethasone or placebo within 48h after SAH. The dexamethasone dose is 8mg tds days 1-7 and then 8mg od for days 8-21 Study outcome: The primary outcome is the modified Rankin Scale (mRS) at 6 months which is dichotomized to favourable (mRS 0-3) versus unfavourable (mRS 4-6). Discussion: The results of this study will provide the first phase III evidence as to whether dexame-thasone improves outcome in SAH. Trial registration: ClinicalTrials.gov NCT05132920. EudraCT Number 2021-000732-54.

Schizophrenia and bipolar disorder broadly overlap in multiple areas involving clinical phenomenology, genetics, and neurobiology. Still, the investigation into specific elementary (sub-)processes of executive functioning may help to define clear points of distinction between these categorical diagnoses to validate the nosological dichotomy and, indirectly, to further elucidate their pathophysiological underpinnings. In the present behavioral study, we sought to separate common from diagnosis-specific deficits in a series of specific elementary sub-functions of executive processing in patients with schizophrenia and bipolar disorder. For our purpose, we administered a modern and multi-purpose neuropsychological task paradigm to equal-sized and matched groups of schizophrenia patients, patients with bipolar disorder, and healthy control subjects. First, schizophrenia patients compared to the bipolar group exhibited a more pronounced deficit in general measures of task performance comprising both response speed and accuracy. Additionally, bipolar patients showed increased advance task preparation, i.e., were better able to compensate for response speed deficits when longer preparation intervals were provided. Set-shifting, on the other hand, was impaired to a similar degree in both patient groups. Finally, schizophrenia patients exhibited a specific deficit in conflict processing (inhibitory control) and the shielding of task-relevant processing from distraction (i.e., attentional maintenance). The present investigation suggests that specific neuropsychological measures of elementary executive functions may represent important points of dissociation between schizophrenia and bipolar disorder, which may help to differentiate the pathophysiological underpinnings of these major psychiatric disorders. In this context, the present findings highlight the measures of inhibitory control and attentional maintenance as promising candidates.

No abstract

The preoperative assessment of patients with a coronary artery fistula requires exact angiographic evaluation of the coronary artery anatomy. A technique of transvenous balloon occlusion angiography of the aorta is described. This can be applied easily in infants with a persisting foramen ovale. Combination of this technique with the so-called "laid-back" aortogram gave excellent visualisation of a fistula between the right coronary artery and the right ventricle. This technique is a major improvement in the angiographic assessment of infants with coronary artery abnormalities and normal cardiac connections. (Br HeartrJ 1993;70:272-273) Balloon occlusion angiography of the aortic root has become routine for the preoperative assessment of neonates with d-transposition Case report Echocardiography when this patient was three weeks old showed a fistula from the right coronary artery to the right ventricle. Cardiac catheterisation was performed a week later. Access was gained percutaneously through the right femoral vein. The foramen ovale was crossed with a 5 French balloon angiographic catheter (American Edwards Laboratories, Swan-Ganz). The catheter was advanced via the left ventricle into the ascending aorta and was positioned proximally to the innominate artery, so that the sideholes were 1 cm above the aortic valve. With temporary occlusion of the aorta we performed two power injections for cineangiography using biplane projections. Angiography was performed first in the anteroposterior and lateral projection and then with a 450 caudal tilt of the frontal x ray tube which added a 50 left anterior oblique orientation.

ASO can be safely performed using moderate hypothermia, even with complex anatomy, leading to comparatively good results compared to a conventional approach.

SYNOPSIS A colorimetric and an isotopic method for determining the iron-binding capacity are described, using only 1 ml. samples of plasma or serum. Both methods are simple, rapid and sensitive. Satisfactory results are obtained from frozen as well as from fresh samples.A simple colorimetric method for estimating the iron content of plasma, using an ethanolic solution of bathophenanthroline to form a coloured iron complex under controlled conditions, has been described by Kok and Wild (1960).The procedure, which gives accurate results, has been employed in measuring the total iron-binding capacity of plasma or serum after the iron-binding protein has been saturated by the addition in vitro of an excess of ammonium ferric citrate and the unbound excess has been removed by a basic anion exchange resin. This technique was used first by Peters, Giovanniello, Apt, and Ross (1956), whose findings are confirmed by the data recorded in this paper.An isotopic method of measuring the total ironbinding capacity, also based on the technique of Peters et al. (1956), has been described by Bothwell, Jacobs, and Kamener (1959). A modification of their method, using the same reagents necessary for the colorimetric procedure described in this paper, is shown to give satisfactory results. REAGENTS IRON-FREE WATER Water, distilled twice over glass, was passed through an Elgastat B102 deionizer. The resistance of this water was greater than 6 x 106 ohms/cm. AMMONIUM FERRIC CITRATE AnalaR ammonium ferric sulphate, 0-430 g., was dissolved in water and ferric hydroxide precipitated by dilute ammonia. After centrifuging the precipitate was dissolved on warming with a few crystals of citric acid. The pH of the solution was adjusted to 6 5 to 71 by the addition of dilute ammonium hydroxide and the solution diluted to 1 litre.The solution, containing 50 ,ug. Fe/mi., was stored at 40C.Ammonium ferric-59Fe citrate (A) for the determination of the unsaturated iron-binding capacity was preparedReceived for publication 23 December 1964. by adding 0-1 ml. 59ferric chloride (5 XC., 1 ,zg. Fe) to 5 ml. of the above solution of ammonium ferric citrate.BUFFER pH 7-5 Sodium chloride, 6-4 g., and 2-3 g. sodium salt of diethyl barbituric acid were dissolved in 1 litre of iron-free water. Then 6-0 g. diethyl barbituric acid was dissolved in the solution. The pH of the buffer was checked1 and found to be 7-5.AMBERLITE IRA 410 RESIN The resin was suspended in 4N hydrochloric acid for 48 hours to remove any iron and saturate the resin with chloride ions. It was washed with iron-free water, suspended in the pH 7 5 buffer, and dried at 95°C. The reagents for the serum iron determination were made up as in the method of Kok and Wild (1960). APPARATUSAll the glass used was washed in detergent solution, soaked in 5000 hydrochloric acid for 48 hours, and then rinsed three times with iron-free water. PROCEDURE 1 COLORIMETRIC METHOD (a) Serum or heparinized plasma, 1 ml., is pipetted into a 10 ml. graduated conical centrifuge tube and 0-10 ml. of ammonium ferri...