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Journal Article 2007; 28(5): 629-632 PubMed PMID: 17984934 Citation  Keywords:  Adult, Amino Acid Substitution, China, Female, Fibrillin-1, Fibrillins, Genetic Predisposition to Disease, Humans, Latent TGF-beta Binding Proteins:metabolism, Male, Marfan Syndrome:genetics, Microfilament Proteins:genetics, Middle Aged, Mutation, Missens.   

: In order to further understand the role of fibrillin-1 (FBN1, OMIM 134797) perturbations in the pathogenesis of Marfan syndrome (MFS, OMIM 154700) we studied a Han Chinese family in which MFS was segregating. In the Chinese family with 5 affected members, mutation screening for FBN1 was performed using direct sequencing. A novel non-synonymous mutation in the transforming growth factor beta binding protein-like (TB) domain of the FBN1 gene was found. The missense mutation c.3022T>C (C1008R) located in exon 24. This mutation was present in the proband and in two other affected family members, but in neither unaffected family members nor unrelated control subjects. The novel non-synonymous mutation, c.3022T>C (C1008R) in the TB domain of FBN1 gene, may be involved in the pathogenesis of MFS in a Han Chinese family....

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Journal Article 2007; 28(5): 535-540 PubMed PMID: 17984933 Citation  Keywords:  Antiparasitic Agents:pharmacology, Antipsychotic Agents:pharmacology, Delusions:complications, Dopamine:metabolism, Dopamine Agents:pharmacology, Energy Metabolism, Humans, Insulin Resistance, Parasitic Diseases:complications, Psychological Theory, Schizo.   

: Recent meta-analyses have provided a comprehensive overview of studies investigating Toxoplasma gondii antibodies in schizophrenic patients, thus attempting to clarify the potential role these infections might play in causing schizophrenia. Issues for further research have been suggested. Associations and theories that may enrich the current level of knowledge with regard to this significant subject deserve attention. Anti-parasitic agents as well as antipsychotics are effective in treating parasitosis. Both classes of drugs have been shown to exert dopaminergic activity. Parasites and human organisms have a long history of mutual contact. The effect of parasitosis on the host and the host's response to infection are undoubtedly the product of a long evolutionary process. The neurochemical background of delusions of parasitosis is potentially similar to ancient evolutionary traces of altered neurotransmission and neuropeptide gene expression caused by parasites; these include fungal and viral infections. This is very unique in medicine if a class of drugs is effective in the treatment of an illness but also cures the delusion of the same disorder as well. Furthermore, metabolic disturbances such as hyperglycemia and insulin resistance were reported several decades before the antipsychotic era. Toxoplasmosis may also be linked to insulin resistance. Schizophrenia research can benefit from understanding this evolutionary link. New chemical entities that are liable to alter neurochemical changes related to the brain's perception of the risk of predation secondary to parasites may result in new approaches for the treatment of psychosis. These findings suggest that further research is needed to clarify this evolutionary link between parasite infection and delusions of parasitosis. We believe this model may well open up new avenues of research in the discovery of drugs to counteract schizophrenia....

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Clinical Trial 2007; 28(5): 633-638 PubMed PMID: 17984932 Citation  Keywords:  Adult, Aged, Antidepressive Agents:therapeutic use, Cerebrovascular Circulation:drug effects, Combined Modality Therapy, Depressive Disorder, Major:therapy, Female, Functional Laterality, Gyrus Cinguli:blood supply, Humans, Male, Middle Aged, Pilot Projec.   

OBJECTIVES: Repetitive transcranial magnetic stimulation (rTMS) is a brain stimulation technique which has received increasing attention as an antidepressant treatment. However available studies are characterized by a substantial variability in response. We hypothesized that individual patients' characteristics might contribute to such heterogeneity. Therefore we investigated whether either alterations of regional cerebral blood flow (rCBF) or clinical characteristics may predict antidepressant response to rTMS.

DESIGN: 24 patients with major depression and stable medication received high frequency (10 Hz) rTMS over the left dorsolateral prefrontal cortex (DLPFC) for two weeks as add-on treatment. ECD-Single photon emission computed tomographay (SPECT) imaging was performed 1 to 2 days before rTMS.

SETTING: Tertial referral center

RESULTS: After two weeks of rTMS a mean reduction of 30% of the initial Hamilton Depression Rating Score (HAMD) was observed. Using a multivariate regression model with simultaneous evaluation of the relative impact of a-priori chosen potential factors influencing treatment outcome, two variables, the pretreatment anterior cingulate rCBF and the former response to antidepressant agents proved significant. High pretreatment anterior cingulate activity and low treatment resistance to pharmacologic therapy were positive predictors for treatment response to rTMS.

CONCLUSIONS: Pretreatment anterior cingulate activity seems to be a useful prognostic marker of rTMS treatment response, which is in line with other treatment strategies, like sleep deprivation, electroconvulsive therapy or antidepressant medication....

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Journal Article 2007; 28(5): 699-703 PubMed PMID: 17984931 Citation  Keywords:  Adolescent, Adult, Factor V:genetics, Female, Gene Frequency, Humans, Jordan, Male, Middle Aged, Polymorphism, Single Nucleotide:genetics, Prothrombin:genetics, Reference Values, Venous Thromboembolism:genetics,.   

: Factor V Leiden and prothrombin G20210A are related genetic risk factors for venous thromboembolism (VTE). Analysis for both mutations is increasingly being performed on patients exhibiting hypercoagulability. The objective of this study was to determine the prevalence of factor V Leiden (FVL), prothrombin-G20210A (PT-G20210A) polymorphisms and their coexistence among apparently healthy Jordanians. One thousand apparently healthy individuals from representative regions of Jordan with no previous history of VTE participated in this study. The mean age of participants was 28.5+/-6.4 years (age range 18-45 years). Two hundred and eighteen subjects were APC resistant with an APC-R mean of 85.52+/-15.35 seconds; the non-resistant subjects had an APC-R mean of 159.90+/-26.96 seconds. A multiplex polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) for the simultaneous detection of FVL and prothrombin G20210A was used to analyze the 218 DNA samples that were APC-R resistant. Both mutations generate HindIII RFLPs and the prothrombin amplicon contains an invariant HindIII recognition sites. The multiplex PCR-RFLP of Factor V for those 218-samples was: 41 wild-type, 169 heterozygous mutant, and eight homozygous mutant individuals. For prothrombin G20210A, the multiplex PCR-RFLP identified 215 wild-type and three heterozygous mutant individuals. Factor V positive individuals (n=50) had a mean F-V activity of 78.04%+/-25.81. F-V activity among wild type (n=41), F-V Leiden heterozygous (n=169) and F-V Leiden homozygous (n=8) were 92.93%+/-16.17, 87.02%+/-15.21 and 96.14%+/-12.32, respectively. Factor II positive subjects (n=47) had a mean factor II activity of 127.96%+/-21.37. F-II activity among carriers (heterozygous, n=3) and non-carriers (normal, n=215) of PT-G20210A mutation were 107.67%+/-9.29 and 105.00%+/-17.79, respectively. The prevalence of FVL was 21.8% and there is a little likelihood of the co-inheritance of the FVL and PT-G20210A among healthy young adults, since only few cases were found to be carriers for the two alleles....

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Case Reports 2007; 28(5): 549-553 PubMed PMID: 17984930 Citation  Keywords:  ACTH-Secreting Pituitary Adenoma:blood, Adenoma:blood, Adrenocorticotropic Hormone:blood, Aged, Antineoplastic Agents, Hormonal:therapeutic use, Empty Sella Syndrome:blood, Female, Humans, Octreotide:therapeutic use, Pituitary Neoplasms:blood, Treatment F.   

BACKGROUND: Our patient was a 65-year-old woman previously diagnosed with Addison's disease. She presented an empty sella turcica and, at the age of 47, was discovered to have autonomous hypersecretion of adrenocorticotropic hormone (ACTH), suggesting a corticotropic adenoma secondary to Addison's disease, with a lack of response to high levels of dexamethasone. She maintained high ACTH levels despite corticosteroid treatment.

METHODS: The patient underwent a CRH stimulation test using an intravenous bolus (100 microg) with samples every 30 minutes for 3 hours and, the day after, an octreotide infusion (0.1 mg/200 cc saline) for 2 hours with measurements every 30 minutes for 3 hours. The following month she received subcutaneous octreotide 0.1 mg tid., and samples were taken every week.

RESULTS: Thirty minutes after the corticotropic-releasing-hormone (CRH) stimulation test, baseline ACTH levels (1 063 pg/ml) increased to 1530, the other values lying between 1 020-862. After octreotide infusion, baseline ACTH (1 212 pg/ml) was 946-643-1 630-4 600-1 730 at 30-60-90-120-180 minutes. The following month, with octreotide treatment, serum ACTH levels were 454-768-1233-429 pg/ml each week.

DISCUSSION: Octreotide acts mainly on somatostatin type 2 receptors (SSTR2) and has no effect in Cushing's syndrome, although a suppressor effect in some ACTH ectopic hypersecretions and in Nelson's syndrome has been demonstrated. It has been observed that SSTR5 appear more frequently than SSTR2 in corticotropic adenomas and corticosteroids downregulate octreotide sensitivity.

CONCLUSIONS: Octreotide did not suppress secretion of ACTH in suspected corticotropic adenoma. Newer somatostatin analogues, acting mainly on SSTR5, may be able to control ACTH hypersecretion in cases such as this....

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Journal Article 2007; 28(5): 662-665 PubMed PMID: 17984929 Citation  Keywords:  Adolescent, Adult, Altruism, Amylases:metabolism, Decision Making:physiology, Games, Experimental, Humans, Male, Reference Values, Reward, Saliva:metabolism, Self Concept, Social Perception,.   

OBJECTIVE: Little is known regarding the relationship between social evaluation-induced neuroendocrine responses and generosity in game-theoretic situations. Previous studies demonstrated that reputation formation plays a pivotal role in prosocial behavior. This study aimed to examine the relationships between a social evaluation-induced salivary alpha-amylase (sAA) response and generosity in the dictator game. The relationship is potentially important in neuroeconomics of altruism and game theory.

METHODS: We assessed sAA and allocated money in the dictator game in male students with and without social evaluation. RESULTS Social evaluation-responders allocated significantly more money than controls; while there was no significant correlation between social evaluation-induced sAA elevation and the allocated money.

CONCLUSIONS: Social evaluation significantly increases generosity in the dictator game, and individual differences in trait characteristics such as altruism and reward sensitivity may be important determinants of generosity in the dictator game task....

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Comparative Study 2007; 28(5): 643-646 PubMed PMID: 17984928 Citation  Keywords:  Adult, Age of Onset, Erythrocyte Count, Erythropoietin:blood, Female, Humans, Male, Middle Aged, Pedigree, Restless Legs Syndrome:blood,.   

BACKGROUND: The restless legs syndrome (RLS) is divided into two forms: idiopathic and secondary. About half the cases of the former are found to have a positive family history. The lack of objective and quantitative parameters in familial RLS also represents a drawback for genetic studies. We tried to find a feature distinguishing the sporadic from the familial forms of the RLS.

METHODS: RLS patients were examined for clinical picture and laboratory markers including erythropoietin levels. Patients with a priori known causes of secondary RLS, were excluded. All biochemical and hematological parameters were standardized for sex and age groups relative to the population mean and standard deviation.

RESULTS: In our set of 311 patients (65.3% women, mean age 54.6 years, SD 14.7 years) 96 reported positive family history (64.6% women, mean age 53.1 years, SD 15.8 years). We found a significantly lower age at the onset of RLS symptoms in familial cases (mean 29.3 vs. 44.0, Z 5.9, p<0.0001), and, in sporadic cases, a significantly lower absolute count of red blood cells (Z -2.02, p=0.043 respectively). Erythropoietin levels in the familial cases were significantly lower than in the reference population (median -2.26 SDs from the mean). None of the other parameters were significantly different between the groups.

CONCLUSIONS: Our results confirm previously published lower age at symptom onset in familial RLS and provide the first evidence of lower erythropoietin levels in RLS patients. These observations might help to identify the specific phenotype for genetic association studies....

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Comparative Study 2007; 28(5): 704-707 PubMed PMID: 17984927 Citation  Keywords:  Adult, Female, Genitalia, Female:pathology, Humans, Infertility, Female:diagnosis, Laparoscopy:methods, Microsurgery:instrumentation, Pelvis:pathology,.   

OBJECTIVES: To compare the efficacy of microlaparoscopy and laparoscopy in the assessment of pelvic region in infertile women.

MATERIALS AND METHODS: 47 patients (aged 24-35) had microlaparoscopy and subsequent laparoscopy performed in order to diagnose the cause of infertility. Pelvic region assessment was performed in both procedures and the results were afterwards compared in regard to duration of the operations and findings reported by independent surgeons. The data was statistically analyzed using Statistica for Windows 5.1.

RESULTS: There were no major differences in the assessment of the pelvic region and found abnormalities in the analyzed postoperative protocols. All the diagnosed abnormalities were described similarly by both surgeons; the differences referred only to subjectively evaluated sizes of findings. The assessment of the pelvic region during microlaparoscopy was fully satisfactory in all cases, none required earlier than scheduled conversion to laparoscopy. The duration of endoscopic procedures was calculated from the moment of trocars insertion into the peritoneal cavity. The average duration time of microlaparoscopic evaluation was 6'20"+/-45", while in laparoscopy - 3'40"+/-32" (p<0.0001).

CONCLUSIONS: Microlaparoscopy and laparoscopy are of similar efficacy in the assessment of small pelvis organs and in detecting pathological changes. Both procedures differ significantly only in regard to the duration....

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