Association ofTNF-857C>T,TNFRSF1A36A>G, andTNFRSF1B676T>GPolymorphisms with Ischemic Stroke in a Greek Population

Background. The role of genetic factors in the predisposition to develop ischemic stroke has been assessed by previous studies. The main goal of the current study was to determine any possible role ofTNF-857C>T,TNFRSF1A36A>G,andTNFRSF1B676T>Gpolymorphisms in risk for stroke.Materials and Methods. One hundred seventy-three patients with first ever ischemic stroke of solely atherosclerotic etiology in Northwest Greece and a control group of 179 healthy unrelated subjects were evaluated.Results.TNFα-857TT,TNFR136AA, andTNFR2676TTgenotypes were significantly increased in the patient group compared to controls (, OR = 2.47 (1.26–4.84), , OR = 1.97 (1.22–3.17), and , OR = 2.2 (1.43–3.37), resp.). In addition, theTNFR136Aand theTNFR2676Talleles were found significantly increased in patients compared to controls (, OR = 1.48 (1.1–2) and , OR = 1.75 (1.25–2.46), resp.).Conclusion. The high incidence of these genotypes and alleles in patient group suggests that they are potentially predisposing factors for stroke in the Greek population studied. Large-scale multicenter controlled studies are needed to verify these polymorphisms effects on stroke susceptibility.

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Genetic aspects of susceptibility to multiple myeloma

Blood ◽

10.1182/blood.v59.6.1286.1286 ◽

1982 ◽

Vol 59 (6) ◽

pp. 1286-1291 ◽

Cited By ~ 25

Author(s):

H Ludwig ◽

W Mayr

Keyword(s):

Multiple Myeloma ◽

Patient Group ◽

Genetic Factors ◽

Blood Groups ◽

Abo Blood Groups ◽

Hla Association ◽

Large Patient

Abstract An up-dated survey of the information pertaining to the role of genetic factors in susceptibility to multiple myeloma is attempted. Our own results include the HLA-A, B, and C types in 68 patients, the G1m and Km allotypes in 86 patients, and the frequencies of ABO blood groups in 126 patients with multiple myeloma. The allotype G1m(x) was significantly (p less than 0.05) more frequent in the patient group. Since the results in the literature on a possible HLA association have been inconsistent, all relevant available data were combined for an assessment of 379 patients versus 5041 controls. In this comparatively large patient group, the previously reported increase of HLA-4c (HLA-B5 + B18 + Bw35) complex could be confirmed and identified as a weak (RR = 1.7) but significant (p less than 0.05) association of susceptibility to multiple myeloma with HLA-B5. Evaluation of G1m allotypes in the combined sample of 258 patients and 4550 controls and Km in 179 and 2457, respectively yielded no significant differences.

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The Role of Genetic Factors in the Development of Individual Predisposition to Ischemic Stroke

Human Physiology ◽

10.1134/s0362119717080047 ◽

2017 ◽

Vol 43 (8) ◽

pp. 886-897 ◽

Cited By ~ 4

Author(s):

V. I. Korchagin ◽

K. O. Mironov ◽

O. P. Dribnokhodova ◽

M. Yu. Maksimova ◽

S. N. Illarioshkin ◽

...

Keyword(s):

Ischemic Stroke ◽

Genetic Factors

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Clinical Impact of Estradiol/Testosterone Ratio in Patients with Acute Ischemic Stroke

10.21203/rs.3.rs-33503/v3 ◽

2020 ◽

Author(s):

Jung-Won Choi ◽

In Woo Ryoo ◽

Jun Yeong Hong ◽

Kyung-Yul Lee ◽

Hyo Suk Nam ◽

...

Keyword(s):

Ischemic Stroke ◽

Acute Ischemic Stroke ◽

Sex Hormones ◽

Control Group ◽

Control Groups ◽

Sexual Hormones ◽

Stroke Group ◽

Male Patients ◽

And Control

Abstract Background: Sex hormones may be associated with a higher incidence of ischemic stroke or stroke-related events. In observational studies, lower testosterone concentrations are associated with infirmity, vascular disease, and adverse cardiovascular risk factors. Currently, female sexual hormones are considered neuroprotective agents. The purpose of this study was to assess the role of sex hormones and the ratio of estradiol/testosterone (E/T) in patients with acute ischemic stroke (AIS).Methods: Between January 2011 and December 2016, 146 male patients with AIS and 152 age- and sex-matched control subjects were included in this study. Sex hormones, including estradiol, progesterone, and testosterone, were evaluated in the AIS patient and control groups. We analyzed the clinical and physiological levels of sex hormones and hormone ratios in these patients.Results: The E/T ratio was significantly elevated among patients in the stroke group compared to those in the control group (P = 0.001). Categorization of data into tertiles revealed that patients with the highest E/T ratio were more likely to have AIS [odds ratio (OR) 3.084; 95% Confidence interval (CI): 1.616-5.886; P < 0.001) compared with those in the first tertile. The E/T ratio was also an independent unfavorable outcome predictor with an adjusted OR of 1.167 (95% CI: 1.053-1.294; P = 0.003).Conclusions: These findings support the hypothesis that increased estradiol and reduced testosterone levels are associated with AIS in men.

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Sleep-Related Movement Disorders

Management of Sleep Disorders in Psychiatry ◽

10.1093/med/9780190929671.003.0014 ◽

2020 ◽

pp. 193-214

Author(s):

Ravi Gupta

Keyword(s):

Movement Disorder ◽

Psychiatric Disorders ◽

Iron Metabolism ◽

Restless Legs Syndrome ◽

Movement Disorders ◽

Genetic Factors ◽

Psychotropic Medications ◽

Predisposing Factors ◽

Treatable Condition

Sleep-related movement disorders include disorders that manifest as simple and mostly stereotyped movements occurring at sleep–wake interface or during sleep. Restless legs syndrome (RLS), the most common sleep-related movement disorder. RLS is a treatable condition that psychiatrists must be familiar with due to its common comorbidity with a broad range of psychiatric disorders. In addition, commonly used psychotropic medications are known to induce or worsen RLS symptoms in predisposed individuals, and these symptoms may be mistaken for akathisia or sleep-initiation insomnia and lead to mismanagement. This chapter discusses, among other RLS-related topics, the diagnosis, epidemiology, predisposing factors, genetic factors, and the role of iron metabolism.

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Convergence, Accommodation, Fusion, and Stereopsis: What Keeps the Eyes Aligned in Intermittent Exotropia?

Scientifica ◽

10.1155/2018/9546979 ◽

2018 ◽

Vol 2018 ◽

pp. 1-6 ◽

Cited By ~ 1

Author(s):

Costantino Schiavi ◽

Valentina Di Croce ◽

Laura Primavera ◽

Filippo Tassi

Keyword(s):

Patient Group ◽

Control Group ◽

Intermittent Exotropia ◽

Myopic Shift ◽

Infrared Video ◽

Group A ◽

Angle Of Deviation ◽

Convergence And Divergence ◽

Group B

Purpose. To investigate the relationships between angle of deviation, fusional convergence and divergence amplitude, AC/A ratio, near point of convergence (NPC), and myopia-phoria in intermittent exotropia (IXT). Methods. 93 patients with IXT, divided into two groups, were recruited in the study. In Group A (73 patients), fusional convergence and divergence amplitudes, NPC, and AC/A ratio were studied and compared with a control group. In Group B (in 20 patients), myopia-phoria while switching from monocular to binocular view was studied with an infrared video retinoscopy and compared with a control group. Results. In Group A, positive fusional amplitudes, NPC, and AC/A ratio of IXT patients did not differ from those of normals. Negative fusional amplitudes were significantly higher in the patient group than in the control group. In Group B, myopic shift was statistically significantly higher in the patient group and there was a statistically significant positive correlation between myopic shift and angle of strabismus. Conclusions. Apart from the role of fusional convergence which accounts for myopia-phoria, that of the other binocular functions in the control at near of IXT and conversely their specific role in the pathogenesis of IXT remain unclear and the cause of divergent infantile strabismus is still unknown.

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Mean Platelet Volume inMycobacterium tuberculosisInfection

BioMed Research International ◽

10.1155/2016/7508763 ◽

2016 ◽

Vol 2016 ◽

pp. 1-4 ◽

Cited By ~ 10

Author(s):

Min Young Lee ◽

Young Jin Kim ◽

Hee Joo Lee ◽

Sun Young Cho ◽

Tae Sung Park

Keyword(s):

Patient Group ◽

Mean Platelet Volume ◽

Inflammatory Marker ◽

Control Group ◽

Significant Relation ◽

Platelet Volume ◽

Positive Correlation ◽

Inflammatory Conditions ◽

High Incidence ◽

Group A

Introduction.Mean platelet volume (MPV) has been thought as a useful index of platelet activation. It is supposed that MPV is also associated with several inflammatory and infectious diseases. Korea still has a high incidence of tuberculosis (TB). The aim of this study was to investigate MPV as an inflammatory marker in TB patients. Materials and Methods.MPV were determined in 221 patients with TB and 143 individuals for control group. MPV was estimated by an Advia 2120 (Siemens Healthcare Diagnostics, Tarrytown, NY, USA).Results.In the TB patient group, a positive correlation was found between CRP and MPV. Age and MPV had a positive correlation in TB patient group.Conclusions.We conclude that there is a significant relation between MPV and inflammatory conditions. MPV can be an inflammatory marker to determine the disease activity in TB patients.

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Forensic implications of rape

Medicinski pregled ◽

10.2298/mpns0612567n ◽

2006 ◽

Vol 59 (11-12) ◽

pp. 567-571 ◽

Cited By ~ 3

Author(s):

Milan Novakovic

Keyword(s):

Bosnia And Herzegovina ◽

Criminal Law ◽

Control Group ◽

Sexual Assaults ◽

Physical Strength ◽

Young Males ◽

High Incidence ◽

High Level ◽

And Behavior

Introduction. Rape is a sexual act of violence in which physical strength is used. Criminal law imposes strict punishments for such crimes as rape. Psycho-pathologically, rape is among the gravest of crimes, often associated with extremely deviated behavior. This article deals with the forensic aspects of sexual violence in Bosnia and Herzegovina in the period from 2000-2004. We report about sexual assaults, personality of delinquents, motives and consequences of rape. Material and Methods. Two groups of violent offenders were compared in the study: perpetrators of rape (N=90), and perpetrators of other criminal offences (N=90-recidivists). The control group included young males (N=90). Results. The results of the study show a high level of violence in Bosnia and Herzegovina. The rape rate equals the level of homicide in Bosnia and Herzegovina. Rape offenders are mostly people with personal disorders (70%), but they also present with other illnesses and behavior disorders. Conclusion. The significance of rape as a violent crime has not been sufficiently studied. High incidence of violence and rape in Bosnia and Herzegovina is extremely disturbing. The most disturbing aspect is the increase of violence and failure to take certain measures. The role of psychiatry is to provide penal education, treatment and programs for elimination of consequences of rape. .

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Peculiar Aspects of Reading and Writing Performances in Patients with Olivopontocerebellar Atrophy

Perceptual and Motor Skills ◽

10.2466/pms.2002.94.2.677 ◽

2002 ◽

Vol 94 (2) ◽

pp. 677-694 ◽

Cited By ~ 17

Author(s):

Rita Moretti ◽

Paola Torre ◽

Rodolfo M. Antonello ◽

Nicola Carraro ◽

Sandro Zambito-Marsala ◽

...

Keyword(s):

Cerebral Cortex ◽

Movement Control ◽

Control Group ◽

Olivopontocerebellar Atrophy ◽

Reading And Writing ◽

High Incidence ◽

Ocular Movement ◽

Reticular System ◽

Conscious Process

Olivopontocerebellar atrophy (OPCA) is a still debated condition, of which motor disruption is the most common feature. A high incidence of associated mood disorders may exist, but there are few studies on concomitant cognitive impairment. Our aim was to assess whether there is reading and writing disruption in olivopontocerebellar atrophy (OPCA). 6 patients were administered different reading and writing tasks. Scores were then compared to those obtained by healthy volunteers. There was an evident impairment in reading and writing execution in out patients compared to those of the control group. On the contrary, no difference could be found in abstraction, problem-solving, and memory tasks. We discuss the results, debating the role of the cerebellum in the conscious process of cognition or in ocular movement control (necessary for reading and writing fluidity and effective execution) and in the dynamic activation of all the cerebral cortex mediated by the diffuse projection to the reticular system.

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Elevated IL-1α and CXCL10 Serum Levels Occur in Patients with Homozygous Sickle Cell Disease and a History of Acute Splenic Sequestration

Disease Markers ◽

10.1155/2012/479275 ◽

2012 ◽

Vol 32 (5) ◽

pp. 295-300 ◽

Cited By ~ 4

Author(s):

Adel Driss ◽

Nana O. Wilson ◽

Karlene Mason ◽

Hyacinth I. Hyacinth ◽

Jacqueline M. Hibbert ◽

...

Keyword(s):

Sickle Cell ◽

Genetic Factors ◽

Serum Levels ◽

Control Group ◽

Splenic Sequestration ◽

Luminex Technology ◽

History Of ◽

Human Cytokines ◽

Normal Controls

Acute splenic sequestration (ASS) and chronic hypersplenism are common features of homozygous sickle cell (SS) disease in the first 5 years of life affecting one-third of subjects in the Jamaican Cohort Study. The risk factors are largely unknown and the current study explores a possible role of genetic factors. We have explored these in subjects who received splenectomy in the management of ASS (n=8) or chronic hypersplenism (n=9) along with age, gender, and genotype matched controls using Luminex Technology to assess 42 human cytokines/chemokines, including IL-1α and CXCL10 (IP-10). Levels of IL-1α (p=0.008) and CXCL10 (p=0.009) were significantly elevated in patients treated by splenectomy compared with the control group. Levels of IL-1α were significantly higher in those with a history of ASS compared with matched normal controls (p=0.028) but not in those treated for hypersplenism (p=0.093). Furthermore, several significant differences were found in the median ratios of some cytokine biomarkers between the splenectomized group and the normal controls. These observations are consistent with acute splenic sequestration having a distinct phenotype which may be helpful in predicting those at risk of this complication and suggest that the mechanism of these differences merit further study.

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Variants in the 3′ End of SLC6A3 in Northwest Han Population with Parkinson’s

Parkinson s Disease ◽

10.1155/2019/6452471 ◽

2019 ◽

Vol 2019 ◽

pp. 1-7

Author(s):

Peiye Chang ◽

Yongwang Fu ◽

Ping Zhao ◽

Chunmei Wang ◽

Mingfang Jiang ◽

...

Keyword(s):

Genetic Factors ◽

Allele Frequencies ◽

Control Group ◽

Control Groups ◽

Han Population ◽

Significant Difference ◽

And Control ◽

Normal Controls ◽

Genotype And Allele Frequencies

Parkinson’s disease (PD) is one of the most common neurodegenerative disorders in neurology. It is possible that multifactorial and genetic factors are related to its pathogenesis. Recently, there have been reports of SLC6A3 genetic variants leading to PD. However, the role of 3′ end of SLC6A3 in PD is less studied in different ethnic groups. To explore the roles of 3′ end of SLC6A3 in PD development, 17 SNP sites in 3′ end of SLC6A3 were analyzed in 360 PD patients and 392 normal controls of Han population residing in northwest of China. The significant difference of gene type and allele frequencies between the PD and control groups was detected only in rs40184 (P = 0.013 and 0.004, respectively; odds ratio 2.529, 95% confidence interval 1.325–4.827). The genotype and allele frequencies of the other 16 SNP sites were not found to be different between the PD group and the control group. rs2550936, rs3776510, and rs429699 were selected to construct the haplotypes; no significant difference was found in a frequency of 5 haplotypes between the PD group and the control group. These results suggest that the SLC6A3 variant in rs40184 A allele may increase the risk of PD in northwest Han population and may be a biomarker of PD.

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