Background: Although there is an evidence to support the efficacy of cognitive behavioral therapy (CBT) in improving quality of life and decreasing psychological distress in patients with cardiovas ...

Background: Regarding the lack of earlier studies on sexual function in female patients with Takotsubo cardiomyopathy (TSCM), the current study aimed at an investigation of psychological and qualit ...

Background: Patients with Takotsubo cardiomyopathy (TSCM) especially female, may be at risk of poor psychological adjustment and deteriorated health related quality of life. Sexual dysfunction is a ...

Background: Many cardiac female patients suffer from sexual dysfunction and do not seek appropriate help. Understating help-seeking intentions and behavior is fundamental to develop interventions t ...

Alpha-mannosidosis is a rare lysosomal storage disease. Hematopoietic SCT (HSCT) is usually recommended as a therapeutic option though reports are anecdotal to date. This retrospective multi institutional analysis describes 17 patients that were diagnosed at a median of 2.5 (1.1–23) years and underwent HSCT at a median of 3.6 (1.3–23.1) years. In all, 15 patients are alive (88%) after a median follow-up of 5.5 (2.1–12.6) years. Two patients died within the first 5 months after HSCT. Of the survivors, two developed severe acute GvHD (>=grade II) and six developed chronic GvHD. Three patients required re-transplantation because of graft failure. All 15 showed stable engraftment. The extent of the patients’ developmental delay before HSCT varied over a wide range. After HSCT, patients made developmental progress, although normal development was not achieved. Hearing ability improved in some, but not in all patients. We conclude that HSCT is a feasible therapeutic option that may promote mental development in alpha-mannosidosis.

An experimental, multi-centre, randomized study with a nurse-led intervention was conducted with the aim of evaluating the effects on HRQoL of a 10-month self-care program for pacemaker patients. In the present study, there were no significant differences in HRQoL when comparisons were made between the experimental group and the control group. Results show two main findings for patients in the self-care program (n = 97; mean age 71 years): a significantly better HRQoL in terms of experiencing the symptoms that were the reason for pacemaker implantation, as having decreased or disappeared, and a higher level of perceived exertion in a 1 1/2-minute stair test compared with patients who had standard checkups (n = 115; mean age 73 years). It is important to actively include pacemaker patients in a self-care program while still in the acute phase in the hospital. Health care professionals should support the patient in a kind and professional manner by providing clear, relevant information, and planning a self-care program based on the nurse's assessment of the patient's needs. To enable patients to manage their life situations, training and continued education for health care professionals is necessary so that their efforts are based on a holistic approach to nursing care and recognition of the patient perspective, with emphasis on developing education and counselling for women, patients with atrial fibrillation/sick sinus disease, and patients whose pacemakers have ventricular pacing.

Since implantation of the first permanent pacemaker in 1958, significant advances have been made in pacemaker technology. To date, however, health-related quality of life (HRQoL) in a large pacemaker population has not been investigated. With dwindling clinical resources, it is important to study HRQoL in a pacemaker population in a reliable and straightforward manner. This study aimed to determine and compare single and multidimensional self-rated health (SRH) in a pacemaker population in terms of sociodemographic characteristics, pacemaker mode and symptoms. The findings showed that irrespective of whether the perspective was single or multidimensional, this Swedish pacemaker population (n=697) with a mean age of 76 years had an acceptable HRQoL. Men, aged 65-84 years, persons who were cohabiting, who had their own dwelling, who had a DDD or who had a pacemaker for <or=3 and 4-7 years experienced better HRQoL. Efforts need to be made for women, single persons, the elderly and retired persons. In conclusion, the SRH of a pacemaker population can be trustworthy established by means of a single-dimensional SRH question.

alpha-Mannosidosis is an autosomal recessive disorder caused by deficiency of lysosomal alpha-mannosidase (LAMAN). The resulting intracellular accumulation of mannose-containing oligosaccharides leads to mental retardation, hearing impairment, skeletal changes, and immunodeficiency. Recently, we reported the first alpha-mannosidosis-causing mutation affecting two Palestinian siblings. In the present study 21 novel mutations and four polymorphic amino acid positions were identified by the screening of 43 patients, from 39 families, mainly of European origin. Disease-causing mutations were identified in 72% of the alleles and included eight splicing, six missense, and three nonsense mutations, as well as two small insertions and two small deletions. In addition, Southern blot analysis indicated rearrangements in some alleles. Most mutations were private or occurred in two or three families, except for a missense mutation resulting in an R750W substitution. This mutation was found in 13 patients, from different European countries, and accounted for 21% of the disease alleles. Although there were clinical variations among the patients, no significant LAMAN activity could be detected in any of the fibroblast cultures. In addition, no correlation between the types of mutations and the clinical manifestations was evident.

The aim of this study was to describe quality of life (QoL) in pacemaker patients based on a nursing perspective. The questions at issue were how these individuals assessed their QoL in general and also with respect to sex, age, civil status and occupation. A cross-sectional study was conducted in a health care area in southern Sweden with 310000 inhabitants. A sample of pacemaker patients (n=182) entered into the study through a random selection of every fourth person. The results show that the total QoL for these pacemaker patients was acceptable. A poorer QoL was found with regard to physical health, the possibility of influencing one's own situation, lifestyle, health care resources and sociocultural orientation. Men, those who were cohabiting, white-collar workers, managers and those 64 years of age or younger assessed their QoL as higher. By using Orem's self-care theory, information, support and education can be carried out in such a way that nursing care affects the entire QoL in pacemaker patients. Measures should be taken on behalf of women, those living alone, those who are oldest and those who are blue-collar workers, all of whom have a lower QoL.

a-Mannosidosis (MIM 248500) is an autosomal recessive lysosomal storage disorder resulting from deficient activity of lysosomal alpha-mannosidase (LAMAN) (EC 3.2.1.24). The disease is characterized by massive intracellular accumulation of mannose-rich oligosaccharides with resulting mental retardation, hearing loss, immune deficiency and skeletal changes. We report here the purification and characterization of human placenta LAMAN. The enzyme is synthesized as a single-chain precursor which is processed into three glycopeptides of 70, 42 and 15 kDa. The 70 kDa peptide is further partially proteolysed into three more peptides that are joined by disulfide bridges. The laman cDNA sequence was assembled from overlapping fragments obtained by PCR on human fibroblast and human lung cDNA. The deduced amino acid sequence contains a putative signal peptide of 48 amino acids followed by a polypeptide sequence of 962 amino acids. Northern blot analyses revealed a single transcript of approximately 3.5 kb present in all tissues examined but at varying levels. Two affected siblings of Palestinian origin were homozygous for a mutation that causes a His-->Leu replacement at a position which is conserved among class 2 alpha-mannosidases from several species.

The intracellular mechanism whereby the neuropeptide galanin inhibits insulin secretion is not establish, since the peptide affects several signal pathways, including intracellular messengers such as calcium and cyclic AMP. In this study, we have assessed the effect of galanin on the inositol-specific phospholipase C (iPLC) activity in isolated rat pancreatic islets. The iPLC activity was measured as the generation of inositol 1,4,5-trisphosphate and its metabolite inositol 1,3,4-trisphosphate from the hydrolysis of polyphosphoinositides. Inositol phosphates were measured by anion-exchange fast protein liquid chromatography (FPLC) analysis of extracts from islets prelabelled with myo-3H-inositol. Galanin (1 to 100 nM) significantly increased the glucose-induced (12 mM) accumulation of inositol 1,4,5-trisphosphate after 2 min, but this stimulation of iPLC activity was followed by a significant suppression after 15 min. In the absence of extracellular calcium, both the stimulatory and inhibitory effects of galanin on the iPLC activity vanished. We therefore conclude that galanin initially stimulates iPLC in a calcium-dependent manner, followed by a secondary inhibitory effect. The secondary inhibition of iPLC activity might contribute to the insulinostatic action of the neuropeptide.

The mechanism by which glucose recognition of B cells results in the release of inositol 1,4,5-trisphosphate is not known at present. In pancreatic islets, fructose shares a common metabolic pathway with glucose from the second step of glycolysis and can augment insulin secretion at stimulatory glucose levels. To evaluate the impact of glycolysis on the release of inositol 1,4,5-trisphosphate, we studied the effect of glucose and fructose metabolism on insulin secretion and the activation of inositol-specific phospholipase C, using collagenase digested rat pancreatic islets incorporated with 3H-labelled myo-inositol. Inositol phosphates, generated by the cleavage of phosphatidyl inositol by inositol phospholipase C, were analyzed using fast protein liquid chromatography. The islets were exposed to 3.3, 5.5 and 12 mmol 1(-1) glucose for 45 min in the absence or presence of 10, 20 or 30 mmol 1(-1) fructose, and the amount of insulin released into the medium was measured. Intracellular inositol phosphate accumulation was measured under the same glucose concentrations with 0, 10 and 30 mmol 1(-1) fructose. As expected, fructose alone had no insulinotropic effect, but potentiated the glucose-induced (5.5 and 12 mmol 1(-1)) insulin secretion at concentrations of 10-30 mmol 1(-1). Glucose (12 vs. 3.3 mmol 1(-1)) significantly increased both intracellular content of inositol 1,4,5-trisphosphate, as well as its metabolite inositol 1,3,4-trisphosphate. Fructose, however, had no potentiating effects on the accumulation of inositol phosphates. It is therefore supposed that glucose does not activate inositol-specific phospholipase C via the glycolysis. Further, since fructose did not activate inositol-specific phospholipase C, this stimulation is likely to be induced by glucose as such.

Department of Medicine, Wallenberglaboratoriet, Lund University, Malmö, Sweden (LINDSKOG) (AHRÉN) Laboratory of Gastroenterology Department of Medicine University of Tromsö Tromsö, Norway (MALM) (FLORHOLMEN)

Alpha-mannosidosis is a rare autosomal recessively inherited lysosomal storage disorder. We describe three patients with alpha-mannosidosis who were born in Tromsø between 1983 and 1987, in order to increase awareness of the disease. It is characterized by a typical facial look, with a prominent forehead, hypertelorism, small nose, flat nasal bridge and hypoplastic teeth. The patients are mentally retarded, often have dysostosis multiplex, recurrent infections and typically severe loss of hearing and delayed speech development. The disease is slowly progressive in the first decade, but shows considerable clinical variability. In most cases, the lymphocytes are vacuolized, but diagnosis depends on measurement of alpha-mannosidase activity in the lymphocytes. Prenatal diagnosis is available, based on chorionic villi sampling in the 9th to 11th week of pregnancy. No causal therapy is known, but establishment of the diagnosis is important to avoid complications, recognize hearing loss and provide speech therapy and special education. The specific diagnosis is critical for genetic counselling and prenatal diagnosis. The authors therefore outline the diagnostic strategy.