A novel presenilin 1 mutation (V261L) associated with presenile Alzheimer's disease and spastic paraparesis

Background and purpose:  We report a novel mutation in exon 8 of the presenilin 1 (PSEN1) gene (V261L) associated with early-onset autosomal dominant Alzheimer's disease and spastic paraparesis.
Methods and results:  The proband was a woman who developed insidious cognitive decline with predominant memory loss and gait disorder secondary to spasticity at the age of 40. Her brother and her mother had a similar disease in the fifth decade of life. The feature of amnestic presentation with spastic paraparesis is consistent with the majority of mutations in the exon 8 of the PSEN1 1 gene.
Conclusions:  Screening for PSEN1 mutations is especially likely to be productive when directed toward persons with positive family history and with age at onset of under 60.     

Acute renal and hepatic failure due to accidental percutaneous absorption of 1,2-dichlorpropane contained in a commercial paint fixative.

Sir, 1,2-dichloropropane (DCP), a colourless, flammable liquid witha chloroform-like odour, is a volatile organo-halogenated compoundcontained in many commercial chemicals, such as solvents foroils, waxes, resins and glues, degreasing and dry-cleaning fluids,pesticides, lead scavengers for gasoline, and paint fixatives[1]. In the few cases of acute severe 1,2-DCP toxicity reported sofar in humans, toxic damage has involved the kidney, liver,haemostatic system, red blood cells and CNS, but in every instance,intoxication occurred through the inhalatory or oral route [1–3]. Here we describe the case of     

Endovascular treatment of epistaxis in a patient with tuberculosis and a giant petrous carotid pseudoaneurysm.

A 31-year-old man with pulmonary tuberculosis who did not have human immunodeficiency virus had massive epistaxis from a giant petrous internal carotid artery pseudoaneurysm. Endovascular trapping of the aneurysm was performed, curing the epistaxis. MR showed multiple enhancing brain lesions that resolved with additional antituberculous drug therapy.     

Coarctation of the aorta and severe aortic insufficiency: What to repair first?

A new surgical approach is proposed for patients with coarctation of the aorta associated with severe aortic valvular insufficiency. The valvular lesion should be repaired first and the coarctation corrected during a second operation; both interventions should be done during the same hospital stay. We base our approach on the belief that improved coronary perfusion can be achieved when the aortic insufficiency is corrected first. The disadvantages of the opposite surgical approach, such as anticoagulation problems, renal underperfusion, and hypertensive complications are easily avoided.     

Complete hydatidiform mole retaining a chromosome 11 of maternal origin: molecular genetic analysis of a case.

Hydatidiform moles are pregnancies characterized by abnormal development of both embryonic and extraembryonic tissues and are associated with the misexpression of imprinted genes. The vast majority of complete hydatidiform moles are diploid and androgenetic, whereas partial hydatidiform moles are triploid, with an extra set of chromosomes of paternal origin. Here, we present an unusual complete mole that showed strong expression of two imprinted, maternally transcribed genes, CDKN1C (encoding p57(KIP2)) and PHLDA2 (TSSC3/IPL), both part of a large imprinted gene domain on chromosome 11. Using microsatellite genotyping and fluorescent in situ hybridization, we show that this paradoxical gene expression was due to retention of a maternal copy of chromosome 11 in addition to the two paternal copies normally present in complete moles. These findings demonstrate that, despite being predominantly androgenetic, some complete moles contain small amounts of DNA of maternal origin. Furthermore, these results provide an explanation for rare false negatives that can arise when p57(KIP2) is used as a diagnostic marker for complete moles.     

The effects of lipoproteins on the tissue factor-dependent activation of factor X

Summary We examined the effect of the lipoproteins on the activation of human factor X in an in vitro system containing purified human factor VII, low levels of tissue factor and calcium ions. In the absence of the lipoproteins the maximum activation was achieved within 10 min of the start of incubation; after this period the formation of factor Xa ceases. When very low-density lipoproteins were present at normal or subnormal plasma concentrations, the factor Xa generated was almost doubled after 10 min. This increase could be abolished by treating each lipoprotein subfraction with the phospholipase A₂; hence, the treated lipoproteins lowered the factor Xa activity. We conclude that the phospholipids favor factor Xa formation, and protect the tissue factor/factor VIIa/factor Xa complex from a potent inhibitor contained in the lipoprotein subfractions.     

Protocol for blood glucose control during enteral nutrition induction in patients with diabetes mellitus

The induction of enteral nutrition in diabetic subjects is problematic because of the difficulty in controlling glycaemia. The use of a sliding scale is discouraged, while scheduled insulin therapy is optimal. We compiled a protocol for patients’ insulinisation during induction of enteral nutrition that takes into account basal and nutritional requirements. This allows the fulfilment of patients’ actual insulin requirements and optimisation of insulin therapy.