To further evaluate the controversial putative association between a Ser9Gly variant in the first exon of the dopamine D3 receptor gene (DRD3) and schizophrenia.
Swedish patients with schizophrenia ( ...n=156) and control subjects ( n=463) were assessed for the DRD3 Ser9Gly variant. Meta-analyses including previous and the present Swedish case-control results were performed.
No significant difference between the Swedish patients and controls were found, but there was an association between DRD3 Ser9Gly Ser/Ser and homozygous genotypes and response to anti-psychotic drugs. This finding was supported by an incomplete meta-analysis. In a meta-analysis of all case-control studies comprising 8761 subjects the association between DRD3 Ser9Gly homozygosity and schizophrenia ( =4.96, degree of freedom=1, p <0.05, odds ratio=1.10, 95% confidence interval=1.01-1.20) persisted. However, the previously proposed association between the Ser/Ser genotype and schizophrenia was not significant (chi2 =2.71, degree of freedom=1, p>0.05, odds ratio=1.08, 95% confidence interval=0.99-1.17).
Whereas the present Swedish case-control analysis did not yield any evidence for association with the diagnosis, the present meta-analysis suggests that the DRD3 gene confer susceptibility to schizophrenia. Reasons for the discrepancies between prior studies are discussed.
Previous PET studies of tyrosine transport have suggested that the transport of tyrosine from blood to brain compartment is not dependent on its plasma concentration in patients with schizophrenia.
...In order to examine this relationship, the transport constant (
K
1) of tyrosine was determined in five patients with schizophrenia and five normals.
l-1-
11CTyrosine was injected i.v. and arterial blood samples were taken during PET scanning. The tyrosine transport was assessed during baseline conditions and after oral administration of
l-tyrosine at a dose (175
mg/kg) that significantly elevated the plasma levels.
K
1 was determined from tracer kinetic modelling .
The transport rate dropped in the normals after tyrosine loading, which is consistent with the prevailing notion that the brain transport system for neutral amino acids works close to saturation, whereas it was virtually unchanged in the schizophrenics. The results demonstrated that tyrosine transport was not saturated in the patients with schizophrenia and thus could lead to elevated brain concentrations of tyrosine.
Summary
The aim of the study was to analyse the degree to which gestational age (GA) has been shortened due to prenatal diagnosis of gastrointestinal malformations (GIM). The data source for the ...study was 14 population‐based registries of congenital malformations (EUROCAT). All liveborn infants with GIMs and without chromosomal anomalies, born 1997–2002, were included. The 14 registries identified 1047 liveborn infants with one or more GIMs (oesophageal atresia, duodenal atresia, omphalocele, gastroschisis and diaphragmatic hernia). Median GA at birth was lower in prenatally diagnosed cases for all five malformations, although not statistically significant for gastroschisis. There was little difference in median birthweight by GA for the pre‐ and postnatally diagnosed infants.
The difference in GA at birth between prenatally and postnatally diagnosed infants with GIMs is enough to increase the risk of mortality for the prenatally diagnosed infants. Clinicians need to balance the risk of early delivery against the benefits of clinical convenience when making case management decisions after prenatal diagnosis. Very few studies have been able to show benefits of prenatal diagnosis of congenital malformations for liveborn infants. This may be because the benefits of prenatal diagnosis are outweighed by the problems arising from a lower GA at birth.
Gastroesophageal reflux disease (GERD) may be associated with episodes of bronchoaspiration, sometimes leading to life-threatening respiratory complications. GERD is frequently observed in the ...setting of type 1 (sliding type) hiatal hernia, but only infrequently complicates the course of type 2 (paraesophageal) hernia.
We performed a retrospective analysis of 50 patients operated for type 2 hiatal hernia in our hospital, to determine the prevalence of respiratory complaints related to GERD in this setting.
We found 7 cases (14%) of type 2 hiatal hernia complicated by pulmonary manifestations as the only symptoms of GERD. These ranged from dyspnea to severe bronchoconstriction and acute respiratory failure. The series is illustrated by the report of 1 patient who experienced acute bronchospasm and cardiopulmonary arrest as a complication of GERD. In all patients, surgical repair of the hiatal hernia, together with an antireflux procedure, resulted in complete resolution of the respiratory complaints for follow-up periods up to 160 months.
Our data emphasize the particular prevalence of respiratory involvement in the case of GERD complicating type 2 hiatal hernia, and also the excellent symptomatic results obtained by surgical therapy for this condition.
Disturbances in catecholamine transmission have been implicated in schizophrenia. Dopamine beta-hydroxylase catalyses the conversion of dopamine to norepinephrine in noradrenergic cells. We attempted ...to investigate a putative functional promoter polymorphism in the dopamine beta-hydroxylase gene (DBH) for association with schizophrenia.
Unrelated schizophrenic patients (n=155) and control subjects (n=436) were analysed with regard to the DBH -1021 C/T variant.
No significant allele or genotype differences were found.
The present results do not support a major involvement of the DBH gene in schizophrenia in the Swedish population investigated.
Multiple sclerosis (MS) is a chronic, debilitating disease for which there is no cure. However, the recent introduction of injectable immunomodulating agents has made it possible to reduce the ...frequency of relapsing episodes and to possibly slow its progression. The use of these agents is recommended by the National MS Society, however, their true potential cannot be realized if patients do not accept them and healthcare professionals do not promote them. Because MS is unpredictable, and treatments can produce side effects, ensuring adherence to the recommended therapy is a complex and challenging issue. A better understanding of the obstacles to adherence, and the identification of possible solutions, should be of value to nurses, who have numerous opportunities to encourage patients to initiate and continue therapy. This article, which is in two parts, describes the particular problems of treatment adherence, and proposes that the transtheoretical model of behavior change can be useful in achieving treatment goals in MS and in other chronic disease states. This model is based upon the concept that a patient's “readiness for change” is crucial, and that attempts at intervention should be sensitive to the patient's changing conditions and state of mind. Nurses who work with patients with MS and other chronic diseases can apply the model to help their patients accept and adhere to the demands of ongoing treatment.
Objective
To assess the safety, tolerability, and efficacy of spliceosomal peptide P140 (IPP‐201101; sequence 131–151 of the U1‐70K protein phosphorylated at Ser140), which is recognized by lupus ...CD4+ T cells, in the treatment of patients with systemic lupus erythematosus (SLE).
Methods
An open‐label, dose‐escalation phase II study was conducted in two centers in Bulgaria. Twenty patients (2 male and 18 female) with moderately active SLE received 3 subcutaneous (SC) administrations of a clinical batch of P140 peptide at 2‐week intervals. Clinical evaluation was performed using approved scales. A panel of autoantibodies, including antinuclear antibodies, antibodies to extractable nuclear antigens (U1 RNP, SmD1, Ro/SSA, La/SSB), and antibodies to double‐stranded DNA (anti‐dsDNA), chromatin, cardiolipin, and peptides of the U1‐70K protein, was tested by enzyme‐linked immunosorbent assay (ELISA). The plasma levels of C‐reactive protein, total Ig, IgG, IgG subclasses, IgM, IgA, and IgE, and of the cytokines interleukin‐2 and tumor necrosis factor α were measured by ELISA and nephelometry.
Results
IgG anti‐dsDNA antibody levels decreased by at least 20% in 7 of 10 patients who received 3 × 200 μg IPP‐201101 (group 1), but only in 1 patient in the group receiving 3 × 1,000 μg IPP‐201101 (group 2). Physician's global assessment of disease activity scores and scores on the SLE Disease Activity Index were significantly decreased in group 1. The changes occurred progressively in the population of responders, increased in magnitude during the treatment period, and were sustained. No clinical or biologic adverse effects were observed in the individuals, except for some local irritation at the highest concentration.
Conclusion
IPP‐201101 was found to be safe and well tolerated by subjects. Three SC doses of IPP‐201101 at 200 μg significantly improved the clinical and biologic status of lupus patients.
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