• Genomics & Informatics
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• v.19 no.4
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• pp.44.1-44.9
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• 2021

Autism is a complex neurodevelopmental disorder, the prevalence of which has increased drastically in India in recent years. Neuroligin is a type I transmembrane protein that plays a crucial role in synaptogenesis. Alterations in synaptic genes are most commonly implicated in autism and other cognitive disorders. The present study investigated the neuroligin 3 gene in the Indian autistic population by sequencing and in silico pathogenicity prediction of molecular changes. In total, 108 clinically described individuals with autism were included from the North Karnataka region of India, along with 150 age-, sex-, and ethnicity-matched healthy controls. Genomic DNA was extracted from peripheral blood, and exonic regions were sequenced. The functional and structural effects of variants of the neuroligin 3 protein were predicted. One coding sequence variant (a missense variant) and four non-coding variants (two 5'-untranslated region [UTR] variants and two 3'-UTR variants) were recorded. The novel missense variant was found in 25% of the autistic population. The C/C genotype of c.551T>C was significantly more common in autistic children than in controls (p = 0.001), and a significantly increased risk of autism (24.7-fold) was associated with this genotype (p = 0.001). The missense variant showed pathogenic effects and high evolutionary conservation over the functions of the neuroligin 3 protein. In the present study, we reported a novel missense variant, V184A, which causes abnormal neuroligin 3 and was found with high frequency in the Indian autistic population. Therefore, neuroligin is a candidate gene for future molecular investigations and functional analysis in the Indian autistic population.

• Anatomy and Cell Biology
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• v.56 no.3
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• pp.374-381
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• 2023

Although the epiglottis plays a vital role in deglutition, histological studies of the epiglottis and surrounding ligaments associated with swallowing dysfunction are limited. Therefore, we performed histological observations to clarify age-related changes in the morphological characteristics of the epiglottis and surrounding structures. Tissue samples comprising the epiglottis and surrounding structures were collected from corpses that were both orally fed and tubefed during their lifetimes. Following hematoxylin and eosin, Elastica Van Gieson, and immunohistochemical staining procedures, the chondrocytes, connective tissue, and glandular tissue were observed under the epiglottis epithelium, and intervening adipose tissue was observed in the surrounding area. Fatty degeneration of acinar cells was also observed in the glandular tissue, possibly because of aging. Bundles of elastic fibers were present around the vascular wall in the peri-epiglottic ligament, but some were reduced. Furthermore, large amounts of collagen fibers ran toward and through the cartilage, whereas the mesh-like elastic fibers stopped in front of the cartilage. Microfibrils considered to be oxytalan fibers, which are thinner and shorter than elastic fibers, were observed around the vascular wall and in the fiber bundles. Age-related changes included connective tissue fibrosis shown by the large amount of collagen fibers, atrophy of salivary glands, and an accompanying increase in adipose tissue. Regarding stretchability and elasticity, the elastic fibers may have an auxiliary function for laryngeal elevation during deglutition. This suggests that disuse atrophy of the laryngeal organs with or without oral intake might reduce the amount of elastic fiber in older adults.

• Journal of the Korean Society of Radiology
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• v.83 no.6
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• pp.1360-1365
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• 2022

Hutchinson-Gilford progeria syndrome (HGPS) is a rare, progressive, premature aging syndrome with early morbidity due to cardiovascular and cerebrovascular diseases. Clinical symptoms are very diverse, including non-specific symptoms such as growth retardation, scleroderma, alopecia, and osteoporosis, as well as hypertension and cardiovascular diseases that occur in childhood and adolescence due to accelerated vascular aging. In patients with HGPS, MR angiography is recommended for early diagnosis of asymptomatic stroke or vascular changes and to assess increased risk of cerebrovascular disease. We report the second domestic case of HGPS confirmed by genetic analysis in a 5-year-old child with typical clinical features, and the first English case report in Korea to present brain MR angiography findings.

• Dementia and Neurocognitive Disorders
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• v.21 no.2
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• pp.59-70
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• 2022

Background and Purpose: Neurofilament light chain (NfL) has been considered as a biomarker for neurodegenerative diseases including Alzheimer's disease (AD). We measured plasma NfL levels in older adults with cognitive complaints and evaluated their clinical usefulness in AD. Methods: Plasma levels of NfL, measured by using the single molecule array method, were acquired in a total of 113 subjects consisting of subjective cognitive decline (SCD; n=14), mild cognitive impairment (MCI; n=37), or dementia of Alzheimer type (DAT; n=62). Plasma NfL level was compared among three groups, and its association with cognitive and functional status was also analyzed. Results: After adjusting for age, plasma NfL level was higher in subjects with DAT (65.98±84.96 pg/mL), compared to in subjects with SCD (16.90±2.54 pg/mL) or MCI (25.53±10.42 pg/mL, p=0.004). NfL levels were correlated with scores of the mini-mental state examination (r=-0.242, p=0.021), clinical dementia rating (CDR) (r=0.291, p=0.005), or CDR-sum of boxes (r=0.276, p=0.008). Just for participants who performed amyloid positron emission tomography (PET), the levels were different between subjects with PET (-) (n=17, 25.95±13.25 pg/mL) and PET (+) (n=16, 63.65±81.90 pg/mL, p=0.010). Additionally, plasma NfL levels were different between vascular dementia and vascular MCI, and between Parkinson's disease- dementia and no dementia. Conclusions: This pilot study shows that in subjects with DAT, plasma NfL levels increase. Plasma NfL level correlated with cognitive and functional status. Further longitudinal studies may help to apply the plasma NfL levels to AD, as a potential biomarker for the diagnosis and predicting progression.

• Journal of the Korea Academia-Industrial cooperation Society
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• v.13 no.9
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• pp.4009-4017
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• 2012

This study was conducted to test the effects of participation in 12-week program of boxing aerobics by obese middle-aged women on their body composition, blood constituents, and vascular compliance The samples are the middle-aged women in their forties or more, who has 30% or more body fat percentage, but has no medical history in cardiovascular disorders or metabolic diseases. The samples are divided into 8 of exercising group, and 8 of control group by random assignment. The intensity of boxing aerobics was HRmax 50% for the initial 4 weeks, HRmax 60% for the 5th to 8th week, and HRmax 70% for the 9th to 12th week. Each session took 60 minutes. The result is as follows. First, as a result of participating in the boxing aerobics program, body weight, body fat percentage, and muscle showed significant differences depending on the measuring period and the interacting term of the group and measuring period(p<.001), and the result of t-test on the sample matched to each group's measuring time also showed the significant increase or decrease in the exercising group(p<.001). Second, as a result of participating in the boxing aerobics program, the exercising group's TC, TG, HDL-C, and LDL-C, all showed significant differences in accordance with each group, measuring time, and the interaction term between groups and measuring time(p<.01, p<.001), and the result of t-test on each group's samples matched to the measuring time also shows significant increase or decrease in the exercising group(p<.01). Third, as a result of participating in the boxing aerobics programs, the vascular compliance of right hand, left hand, right hand, and left hand showed significant differences in accordance with each group, measuring time, and the interacting term between the measuring time and the group(p<.001), the t-test results of the samples matched to the each group's measuring time also showed significant differences in the exercising group(p<.001). To summarize the results above, it is suggested that the 12-week boxing aerobics program can improve body composition, blood constituents, and the blood circulation, which may prevent or enhance relevant diseases such as cardiovascular disorders.

• The Journal of Korean Medicine
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• v.25 no.4
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• pp.95-107
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• 2004

Objective : The inappropriate or excessive apoptosis has been known to be associated with neurodegenerative disorders including intracranial hemorrhage(ICH). Paeoniae radix, in traditional Korean medicine, has played its role as blood­nourisher and yin-astringent. In the present study, the effect of Paeoniae radix on the inhibition of neurodegeneration in the brain of rats after artificial ICH and on the resulting apoptosis was investigated. Methods : 30 rats were divided into 6 equal groups ; the sham-operation group, the hemorrhage-induction group, the hemorrhage-induction with 10, 50, 100, and 200 mg/kg Paeoniae radix-treated group, respectively. Stereotactic surgery was performed and collagenase was infused to induce ICH in the region of CA1 of hippocampus of rats. The sham group took only saline infusion. For 7 days after the surgery, 4 testing groups had intraperitoneal injections of Paeoniae radix extract. The step-down inhibitory avoidance task, measurement of neurodegeneration degree in the CA1 region of the hippocampus, and detection of caspase-3 and newly generated cells in the dentate gyrus were done after animal sacrifice. Results : Rats receiving Paeoniae radix extract showed increased latency time in the inhibitory avoidance task. The extension of neuron-deprived areas in the CA1 region was significantly suppressed in the Paeonia treated groups. Also expressions of caspase-3 in the CA1 region and cortex were significantly inhibited in the Paeonia treated groups. The cell proliferation was evaluated by means of BrdU methods and proved to be decreased in the Paeonia treated groups. Conclusion : These results suggest that Paeoniae radix has potential to suppress short-tenn memory loss after devastating neurologic accidents. Also it was proved that Paeoniae radix has a neuroprotective effect and alleviates central nervous complications following intracerebral hemorrhage. Furthermore, it may imply that this medicinal plant can be widely used for vascular dementia and other neurodegenerative disorders.

• Journal of the Korean Association of Oral and Maxillofacial Surgeons
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• v.35 no.6
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• pp.431-436
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• 2009

There are five principal causes for excessive bleeding in the immediate postextraction phase ; (1) Vascular wall alteration (wound infection, scurvy, chemicals, allergy) (2) Disorders of platelet function (genetic defect, drug-aspirin, autoimmune disease) (3) Thrombocytopenic purpuras (radiation, leukemia), (4) Inherited disorders of coagulation (hemophilia, Christmas disease, vitamin deficiency, anticoagulation drug-heparin, coumarin). If the hemorrhage from postextraction wound is unusually aggressive, and then dehydration and airway problem are occurred, the socket must be packed with gelatine sponge(Gelfoam) that was moistened with thrombin and wound closure & pressure dressing are applied. The thrombin clots fibrinogen to produce rapid hemostasis. Gelatine sponges moistened with thrombin provide effective coagulation of hemorrhage from small veins and capillaries. But, in dental alveoli, gelatine sponges may absorb oral microorganisms and cause alveolar osteitis (infection). This is a case report of bleeding control by continuous rubber strip & iodoform gauze drainage (without gelfoam packing) of active bleeding infection sites of three teeth extraction wounds in a 46-years-old female patient with advanced liver cirrhosis.

• Biomedical Science Letters
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• v.14 no.1
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• pp.39-45
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• 2008

Inflammation is the complex biological response of injured tissues to harmful stimuli. A cascade of biochemical events propagates and matures the inflammatory response, involving the local vascular system, the immune system, and various cells within the injured tissue. The immune system is often involved with inflammatory disorders, demonstrated in both allergic reactions and some myopathies, with many immune system disorders resulting in abnormal inflammation. An Arbitrary Waveform Generator (AWG) is a piece of electronic test equipment used to generate electrical waveforms for the treatment of patients. The patients with gastritis and arthritis have been known to have a relatively favorable prognosis with AWG treatment. Accordingly, we examined the effects of AWG treatment in gastritis and arthritis animal model. The compound 48/80 was used to induce animal gastritis model. The tissue malone dialdehyde (MDA) and serum histamine levels, and the activity of superoxide dismutase (SOD) in stomach tissue were measured. The tissue MDA and serum histamine levels in AWG treated groups exhibited the decreased tendency compared with control group, whereas the tissue SOD activity was slightly increased. The Freund's complete adjuvant was used to induce animal arthritis model as well. The paw edema volume and the width of ankle joint were determined. The AWG treatment significantly decreased the paw edema volume after 5th day of treatment. Although further studies should be performed to confirm the effects of AWG treatment, present study suggest that AWG treatment might be used as a complementary treatment for the gastritis or arthritis treatment.

• Asian Pacific Journal of Cancer Prevention
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• v.16 no.14
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• pp.5741-5747
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• 2015

Purpose: To understand the epidemiology of different upper gastrointestinal (UGI) tract related abnormalities through endoscopic data analysis. Materials and Methods: A retrospective study of three years from January 2009 to December 2011 was conducted with data from endoscopic surveillance of upper GI tract problems, collected from the Gastroenterology Unit, Osmania General Hospital, Hyderabad. MS excel and Medcalc software (comparison of proportions) were used for data analysis. Results: A total of 10,029 (6,468 in males and 3,561 in females) endoscopies were performed during this three-year period. The male to female ratio was 1.8:1. Overall, ~30% of endoscopies evaluated showed patients with acid peptic disorders, 13.6% with vascular-related abnormalities, 10.6% showed structural abnormalities, followed by 6.3% with malignancies. Burden of malignancies was mostly observed in the older age group (60-69 years). Esophageal cancer cases decreased (p=0.0001) whereas stomach cancers increased over this period (p=0.0345). We also observed an increased incidence of acid peptic disease (APD) (p=0.0036) and gastroesophageal reflux disease (GERD) (p=0.0002) cases during this period. Conclusions: Endoscopic diagnosis is useful for early detection of UGI anomalies and helpful for physicians to manage and treat varied kinds of UGI disorders. Analysis of data revealed changing trends in the incidence of various pathologies of the UGI tract. Functional dyspepsia and GERD definitely reduce the quality of life of the individual. The role of our diverse dietary habits and lifestyle associated with these problems have not yet been established, though there have been reports on the effect of coffee, spicy food, wheat-based diet, screening of UGI pathologies along with collection of complete personal and medical history details, can h elp in correlating the patients' condition with various aspects of lifestyle and diet.

• Journal of Ginseng Research
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• v.42 no.4
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• pp.436-446
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• 2018

Background: The potential therapeutic values of Korean Red Ginseng extract (KRGE) in autoimmune disorders of nervous system have not been fully investigated. Methods: We used an acute experimental autoimmune encephalomyelitis animal model of multiple sclerosis and determined the effects and mechanism of KRGE on spinal myelination. Results: Pretreatment with KRGE (100 mg/kg, orally) for 10 days before immunization with myelin basic protein $(MBP)_{68-82}$ peptide exerted a protective effect against demyelination in the spinal cord, with inhibited recruitment and activation of immune cells including microglia, decreased mRNA expression of detrimental inflammatory mediators (interleukin-6, interferon-${\gamma}$, and cyclooxygenase-2), but increased mRNA expression of protective inflammatory mediators (insulin-like growth factor ${\beta}1$, transforming growth factor ${\beta}$, and vascular endothelial growth factor-1). These results were associated with significant downregulation of p38 mitogen-activated protein kinase and nuclear factor-${\kappa}B$ signaling pathways in microglia/macrophages, T cells, and astrocytes. Conclusion: Our findings suggest that KRGE alleviates spinal demyelination in acute experimental autoimmune encephalomyelitis through inhibiting the activation of the p38 mitogen-activated protein kinase/nuclear factor-${\kappa}B$ signaling pathway. Therefore, KRGE might be used as a new therapeutic for autoimmune disorders such as multiple sclerosis, although further investigation is needed.