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Altered biventricular hemodynamic forces in patients with repaired tetralogy of Fallot and right ventricular volume overload because of pulmonary regurgitation

Intracardiac hemodynamic forces have been proposed to influence remodeling and be a marker of ventricular dysfunction. We aimed to quantify the hemodynamic forces in repaired tetralogy of Fallot (rToF) patients to further understand the pathophysiological mechanisms as this could be a potential marker for pulmonary valve replacement (PVR) in these patients. Patients with rToF and PR>20% (n=18) and

Piebaldism in a mentally retarded girl with rare deletion of the long arm of chromosome 4

A 4-year-old mentally retarded girl had congenital depigmentations of ventrolateral parts of the chest, abdomen, and legs. She also showed dysmorphic features of the head, thorax, and extremities, a pigmented ring in both irises, and a hernia of the left obliquus muscle. Cytogenetic investigations revealed deletion of chromosome 4 for the long arm segment q12-q21. The typical depigmentations, repo

HIV infection in haemophilia - A European cohort

Ten haemophilia centres in northern Europe have pooled data on 202 haemophilic children who were infected with HIV between 1979 and 1986. All cases were under 16 years of age on 1 July 1985. The age at infection ranged from 1-15 years. Thirty-seven cases (18%) had progressed to AIDS by 1 July 1991 and 15 of these have died. Persistent generalised lymphadenopathy has been noted in 102 patients of w

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Abstract in French Etude sur la production de formes du type "je parlE" par des apprenants suédophones adultes du français langue étrangère. Lien entre la production des formes dans l'input et la productions des formes interlangagières des apprenants.

Inversions of the factor VIII gene in Swedish patients with severe haemophilia A

The series comprised 49 Swedish patients with severe haemophilia G [belonging to 49 families (21 with known and 28 with sporadic haemophilia)l, of whom 12 had developed F.VIII inhibitors. Using Southern blotting, 45% (22/49) were found to have inversions, i.e., intrachromosomal rearrangements of the tip of the X chromosome. Twenty patients had one or the other of the two variants of inversions rec

Gene mutations and inhibitor formation in patients with hemophilia B

The nature of the mutation in the factor IX gene is an important factor in determining whether a patient with hemophilia B will develop an inhibitor. In a series of 62 Swedish families with hemophilia B, including 30 with the severe form, approximately one third of the families exhibiting deletions or nonsense mutations contained one member who developed an inhibitor. The risk for inhibitor develo

Normal vaginal delivery is to be recommended for haemophilia carrier gravidae

Every child with severe or moderate haemophilia A or B, born in Sweden during the period 1970-1990, was traced in the national haemophilia register, all 117 case records being surveyed for mode of delivery and perinatal complications. Of the 117 deliveries. 13 were by caesarean section and the remaining 104 vaginal. Of the 13 caesarean sections, 2 were performed because the woman was a haemophilia

Bandwidth Efficient Coding

Methods for energy and bandwidth efficient coded digital communication, including pulse design, non-orthogonal signaling methods, and the faster than Nyquist signaling method.

Haemoglobin Koln as de novo mutations in Sweden : Diagnosis by PCR and specific enzymatic cleavage

Three independent cases of chronic haemolytic anaemia in Sweden have recently been demonstrated to be due to the unstable haemoglobin variant Hb Koln. The patients, all of whom have partially compensated chronic haemolytic anaemia, presented with aggravated haemolysis during acute infections in childhood. In one case, acute B19 parvovirus infection induced an aplastic crisis. The substitutions all

Digital Phase Modulation

First text in bandwidth-efficient digital coded communication. Introduced the method of continuous phase modulation (CPM) coding, with full treatment of spectrum, minimum distance, trasnmitters and receivers.

Prenatal diagnosis of haemophilia

Genotype assessment based on direct identification of the pathogenic mutation in a chorionic villi sample obtained in the 11-12th gestational week is the most reliable method for prenatal diagnosis and should be used if available. Genetic linkage studies of polymorphisms should be the second choice in the assessment of carriers and in prenatal diagnosis. Carriers of haemophilia should be offered a

Long-term psychological effects of carrier testing and prenatal diagnosis of haemophilia: Comparison with a control group

The long-term psychological effects resulting from carrier testing and prenatal diagnosis (PD) of haemophilia were evaluated by comparing mental symptomatology scores (Symptom Check List, SCL-90) for 50 carriers of haemophilia who had undergone PD about five years earlier, 55 carriers who had not undergone PD and 262 control women who were not carriers. All of the women had children. Carrier testi

Identifying carriers at high risk for negative reactions when performing prenatal diagnosis of haemophilia

The aim of the current study was to determine which pregnant carriers of haemophilia are at particularly high risk for having notably negative psychological reactions in association with prenatal diagnosis (PND) by fetal blood sampling of offspring haemophilia. Among 29 carriers of haemophilia A or B, notable psychiatric or psychosomatic symptoms in association with PND were significantly related