The Effect of Blindness on Biological Rhythms and the Consequences of Circadian Rhythm Disorder

Various physiological systems and behaviors such as the sleep-wake cycle, vigilance, body temperature, and the secretion of certain hormones are governed by a 24-hour cycle called the circadian system. While there are many external stimuli involved the regulation of circadian rhythm, the most powerful environmental stimulus is the daily light-dark cycle. Blind individuals with no light perception develop circadian desynchrony. This leads to non-24-hour sleep-wake rhythm disorder, which is associated with sleep-wake disorders, as well as mood disorders and loss of appetite and gastrointestinal disturbances due to disrupted circadian hormone regulation. As the diagnosis is often delayed because of under-recognition in clinical practice, patients must cope with varying degrees of social and academic dysfunction. Most blind individuals report that non-24-hour sleep-wake rhythm disorder affects them more than blindness. In the treatment of totally blind patients suffering from non-24-hour sleep-wake rhythm disorder, the first-line management is behavioral approaches. Drug therapy includes melatonin and the melatonin agonist tasimelteon. Diagnosing blind individuals’ sleep disorders is also relevant to treatment because they can be improved with the use of melatonin and its analogues or by phototherapy if they have residual vision. Therefore, assessing sleep problems and planning treatment accordingly for individuals presenting with blindness is an important issue for ophthalmologists to keep in mind

Effects of bodybuilding and protein supplements in saliva, gingival crevicular fluid, and serum

WOS: 000399263300015PubMed ID: 28367892The effects of bodybuilding and protein supplements on periodontal tissues have not yet been evaluated. The present study aimed to examine the periodontal status and interleukin (IL)-1 beta, apoptosis-associated speck-like protein containing C-terminal caspase-recruitment domain (ASC), and caspase 1 (CASP1) gene expression levels of body builders compared with those of controls. Twentyfive bodybuilders with gingivitis (BB-G) who used protein powder supplements were compared with 25 nonexercising males with (G) and 25 without (H) gingivitis. Saliva, gingival crevicular fluid (GCF), and serum were collected for gene expression analysis. Plaque index (PI), gingival index (GI), probing depth (PD), clinical attachment level (CAL), and bleeding on probing (BOP) were recorded. GI and BOP were higher in group BB-G and G than in group H (P 0.05). In GCF, CASP1, ASC, and IL-1 beta expression were upregulated in group G compared with groups BB-G and H (P < 0.01). In addition, ASC (P < 0.05) and IL-1 beta (P < 0.01) were downregulated in group BB-G compared with group H. CASP1, IL-1 beta (P < 0.01), and ASC in the saliva were downregulated in group BB-G compared with groups H and G (P < 0.05). CASP1, IL-1 beta, and ASC may play a role in the pathogenesis of gingivitis. Bodybuilding and supplement usage may decrease gingival inflammation by downregulating CASP1, and ASC.Scientific Research Fund of Sifa University [SUBAP 2015-6]This study was supported by the Scientific Research Fund of Sifa University, Project Grant # SUBAP 2015-6

Lack of Association of Insulin Receptor Substrate Gene Polymorphisms with Obstructive Sleep Apnea Syndrome

Sleep apnea syndrome is associated with increased prevalence of diabetes and has recently shown to be associated with insulin resistance. The aim of the present study was to investigate the relationships between insulin resistance, insulin receptor substrate-1 (IRS-1), insulin receptor substrate-2 (IRS-2) gene polymorphisms and obstructive sleep apnea syndrome (OSAS). The study population consisted of 56 consecutive patients with OSAS and 26 subjects without OSAS were enrolled in the study. Genotyping of IRS-1 and IRS-2 were amplified by polymerase chain reaction (PCR). Insulin resistance was estimated using the homeostasis model assessment (HOMA). In OSAS patients, 2 (3.6%) had G972R gene polymorphism and 54 (96.4%) had no nucleotide substitution in IRS-1 gene whereas in the control group, there was no nucleotide substitution in IRS-1 gene (p&gt;0.05). Besides, 47 OSAS patients (84.0%) had no nucleotide substitution, 3 (5.3%) had G1057D heterozygous, 1 (1.8%) had P1033P heterozygous, 3 (5.3%) had P1033P homozygous and 2 (3.6%) had P1033P heterozygous/G1057D heterozygous polymorphisms in IRS-2 gene. In the control subjects, 21 (80.8%) had no nucleotide substitution, 3 (11.5%) had P1033P homozygous and 2 (7.7%) had P1033P heterozygous polymorphisms in IRS-2 gene (p&gt;0.05). There was no significant difference between two groups in terms of fasting glucose and HOMA-IR. It was observed that IRS-1 and IRS-2 gene polymorphisms didnt increase risk for OSAS. Besides, there was no association between IRS-1 and IRS-2 polymorphisms and HOMA in OSAS. [Med-Science 2013; 2(4.000): 830-41

A novel DAX-1 mutation presented with precocious puberty and hypogonadotropic hypogonadism in different members of a large pedigree

WOS: 000318500400021PubMed ID: 23585174Patients with DAX-1 gene mutations on chromosome Xp21 usually present with adrenal hypoplasia congenita and hypogonadotropic hypogonadism. Yet, neither correlation between the type of mutation and the age of onset of the disease nor mechanism of the mutation on puberty is fully understood. Here, we report a novel non-sense p. Gln208X mutation in the amino terminal domain of the DAX-1 gene observed in a large family with three boys presenting with adrenal manifestations at different ages. Furthermore, two boys developed spontaneous puberty that failed to progress at similar ages, whereas the other boy developed precocious puberty at 10 month of age. The unique structure of the DAX-1 gene may explain this phenotypic variability. However, more studies are needed to understand the role of the DAX-1 gene on development of the adrenal gland and hypothalamus-pituitary-gonadal axis

Medicine Science 2013;2(4):830-41 IRS gene polymorphism in OSAS Original Investigation Lack of Association of Insulin Receptor Substrate Gene Polymorphisms with Obstructive Sleep Apnea Syndrome Medicine Science 2013;2(4):830-41 IRS gene polymorphism in OS

Abstract Sleep apnea syndrome is associated with increased prevalence of diabetes and has recently shown to be associated with insulin resistance. The aim of the present study was to investigate the relationships between insulin resistance, insulin receptor substrate-1 (IRS-1), insulin receptor substrate-2 (IRS-2) gene polymorphisms and obstructive sleep apnea syndrome (OSAS). The study population consisted of 56 consecutive patients with OSAS and 26 subjects without OSAS were enrolled in the study. Genotyping of IRS-1 and IRS-2 were amplified by polymerase chain reaction (PCR). Insulin resistance was estimated using the homeostasis model assessment (HOM

Evaluation of hepatitis serology and frequency of viral reactivation in patients with inflammatory arthritis receiving biologic agents: a multicenter observational study

To evaluate of hepatitis serology and reactivation frequency in patients with rheumatic disease receiving biologic agents. Our study included patients with inflammatory rheumatic diseases from 23 centers, who were followed up with biological therapy. Demographic and clinical characteristics of the patients, duration of drug use and hepatitis serology and the state of viral reactivation were analyzed. A total of 4060 patients, 2095 being males, were included in our study. Of the patients, 2463 had Ankylosing Spondylitis (AS), 1154 had Rheumatoid Arthritis (RA), 325 had Psoriatic Arthritis (PsA), and 118 had other inflammatory rheumatic diseases. When the viral serology of the patients was evaluated, 79 patients (2%) who were identified as HBs Ag positive, 486 (12%) patients who were HBs Ag negative and anti-HBc IgG positive and 20 patients (0.5%) who were anti-HCV positive. When evaluated on a disease-by-disease basis, the rate of HBsAg was found to be 2.5% in RA, 2% in AS and 0.9% in PsA. Viral reactivation was detected in 13 patients while receiving biologic agents. HBs Ag was positive in nine patients with reactivation and negative in four patients. Anti-HBc IgG, however, was positive. Six of these patients had AS, four had RA, and three had PsA. The development of hepatitis reactivation in 11.4% of HBs Ag positive patients and 0.82% of anti-HBc IgG positive patients due to the use of biologic agents is an important problem for this group of patients. Antiviral prophylaxis is recommended to be started especially in patients who are HBs Ag positive and who are using biologic agents due to viral reactivation. Therefore, it is important to carry out hepatitis screenings before biologic agent treatment and to carefully evaluate the vaccination and prophylaxis requirements