Search results for: psoriatic disease marker

Authors: Kamil Ganaev, Elina Vlasova, Andrei Shiryaev, Renat Akchurin

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De novo atrial fibrillation (AF) after coronary artery bypass grafting (CABG) is a common complication. To date, there are no data on the possible effect of diffuse lesions of coronary arteries on the incidence of postoperative AF complications. Methods. Patients operated on-pump under hypothermic conditions during the calendar year (2020) were studied. Inclusion criteria - isolated CABG and achievement of complete myocardial revascularization. Patients with a history of AF moderate and severe valve dysfunction, hormonal thyroid pathology, initial CHF(Congestive heart failure), as well as patients with developed perioperative complications (IM, acute heart failure, massive blood loss) and deceased were excluded. Thus 227 patients were included; mean age 65±9 years; 69% were men. 89% of patients had a 3-vessel lesion of the coronary artery; the remainder had a 2-vessel lesion. Mean LV size: 3.9±0.3 cm, indexed LV volume: 29.4±5.3 mL/m2. Two groups were considered: D (n=98), patients with diffuse coronary heart disease, and L (n=129), patients with local coronary heart disease. Clinical and demographic characteristics in the groups were comparable. Rhythm assessment: continuous bedside ECG monitoring up to 5 days; ECG CT at 5-7 days after CABG; daily routine ECG registration. Follow-up period - postoperative hospital period. Results. The Median follow-up period was 9 (7;11) days. POFP (Postoperative atrial fibrillation) was detected in 61/227 (27%) patients: 34/98 (35%) in group D versus 27/129 (21%) in group L; p<0.05. Moreover, the values of revascularization index in groups D and L (3.9±0.7 and 3.8±0.5, respectively) were equal, and the mean time Cardiopulmonary bypass (CPB) (107±27 and 80±13min), as well as the mean ischemic time (67±17 and 55±11min) were significantly longer in group D (p<0.05). However, a separate analysis of these parameters in patients with and without developed AF did not reveal any significant differences in group D (CPB time 99±21.2 min, ischemic time 63±12.2 min), or in group L (CPB time 88±13.1 min, ischemic time 58.7±13.2 min). Conclusion. With the diffuse nature of coronary lesions, the incidence of AF in the hospital period after isolated CABG definitely increases. To better understand the role of severe coronary atherosclerosis in the development of POAF, it is necessary to distinguish the influence of organic features of atrial and ventricular myocardium (as a consequence of chronic coronary disease) from the features of surgical correction in diffuse coronary lesions.

Keywords: atrial fibrillation, diffuse coronary artery disease, coronary artery bypass grafting, local coronary artery disease

Procedia PDF Downloads 208

Authors: Luiz Daniel Garay Trindade, Antonio De Freitas Valle Neto, Fabio Paulo Basso, Elder De Macedo Rodrigues, Maicon Bernardino, Daniel Welfer, Daniel Muller

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Agriculture plays an important role in society since it is one of the main sources of food in the world. To help the production and yield of crops, precision agriculture makes use of technologies aiming at improving productivity and quality of agricultural commodities. One of the problems hampering quality of agricultural production is the disease affecting crops. Failure in detecting diseases in a short period of time can result in small or big damages to production, causing financial losses to farmers. In order to provide a map of the contributions destined to the early detection of plant diseases and a comparison of the accuracy of the selected studies, a systematic literature review of the literature was performed, showing techniques for digital image processing and neural networks. We found 35 interesting tool support alternatives to detect disease in 19 plants. Our comparison of these studies resulted in an overall average accuracy of 87.45%, with two studies very closer to obtain 100%.

Keywords: pattern recognition, image processing, deep learning, precision agriculture, smart farming, agricultural automation

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Authors: Le Jiang, Chua Jinxing

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Introduction: The recent outbreak of Ebola virus disease in the west Africa has drawn global concern. With a high fatality rate and direct human-to-human transmission, it has spread between countries and caused great damages for patients and family who are affected. Being the designated hospital to manage epidemic outbreak in Singapore, Tan Tock Seng Hospital (TTSH) is facing great challenges in preparation and managing of potential outbreak of emerging infectious disease such as Ebola virus disease. Aim: We conducted an infection control drill in TTSH emergency department to assess the readiness of healthcare and allied health workers in managing suspected Ebola patients. It also helps to review current Ebola clinical protocol and work instruction to ensure more smooth and safe practice in managing Ebola patients in TTSH emergency department. Result: General preparedness level of staffs involved in managing Ebola virus disease in TTSH emergency department is not adequate. Knowledge deficits of staffs on Ebola personal protective equipment gowning and degowning process increase the risk of potential cross contamination in patient care. Loopholes are also found in current clinical protocol, such as unclear instructions and inaccurate information, which need to be revised to promote better staff performance in patient management. Logistic issues such as equipment dysfunction and inadequate supplies can lead to ineffective communication among teams and causing harm to patients in emergency situation. Conclusion: The infection control drill identified the need for more well-structured and clear clinical protocols to be in place to promote participants performance. In addition to quality protocols and guidelines, systemic training and annual refresher for all staffs in the emergency department are essential to prepare staffs for the outbreak of Ebola virus disease. Collaboration and communication with allied health staffs are also crucial for smooth delivery of patient care and minimising the potential human suffering, properties loss or injuries caused by disease. Therefore, more clinical drills with collaboration among various departments involved are recommended to be conducted in the future to monitor and assess readiness of TTSH emergency department in managing Ebola virus disease.

Keywords: ebola, emergency department, infection control drill, Tan Tock Seng Hospital

Procedia PDF Downloads 118

Authors: Ananya Gupta, Sangeeta Bhaskar

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Mycobacterium indicus pranii (MIP) is a saprophytic mycobacterium. It is a predecessor of M. avium complex (MAC). Whole genome analysis and growth kinetics studies have placed MIP in between pathogenic and non-pathogenic species. It shares significant antigenic repertoire with M. tuberculosis and have unique immunomodulatory properties. MIP provides better protection than BCG against pulmonary tuberculosis in animal models. Immunization with MIP by aerosol route provides significantly higher protection as compared to immunization by subcutaneous (s.c.) route. However, mechanism behind differential protection has not been studied. In this study, using mice model we have evaluated and compared the M.tb specific immune response in lung compartments (airway lumen / lung interstitium) as well as spleen following MIP immunization via nasal (i.n.) and s.c. route. MIP i.n. vaccination resulted in increased seeding of memory T cells (CD4+ and CD8+ T-cells) in the airway lumen. Frequency of CD4+ T cells expressing Th1 migratory marker (CXCR3) and activation marker (CD69) were also high in airway lumen of MIP i.n. group. Significantly high ex vivo secretion of cytokines- IFN-, IL-12, IL-17 and TNF- from cells of airway luminal spaces provides evidence of antigen-specific lung immune response, besides generating systemic immunity comparable to MIP s.c. group. Analysis of T cell response on per cell basis revealed that antigen specific T-cells of MIP i.n. group were functionally superior as higher percentage of these cells simultaneously secreted IFN-gamma, IL-2 and TNF-alpha cytokines as compared to MIP s.c. group. T-cells secreting more than one of the cytokines simultaneously are believed to have robust effector response and crucial for protection, compared with single cytokine secreting T-cells. Adoptive transfer of airway luminal T-cells from MIP i.n. group into trachea of naive B6 mice revealed that MIP induced CD8 T-cells play crucial role in providing long term protection. Thus the study demonstrates that MIP intranasal vaccination induces M.tb specific memory T-cells in the airway lumen that results in an early and robust recall response against M.tb infection.

Keywords: airway lumen, Mycobacterium indicus pranii, Th1 migratory markers, vaccination

Procedia PDF Downloads 185

Authors: Garba Iliyasu, Lamaran Dattijo

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Introduction: Ebola virus disease (EVD) is a disease of humans and other primates caused by Ebola viruses. The most widespread epidemic of EVD in history occurred recently in several West African countries. The burden and outcome of EVD in pregnant women remains uncertain. There are very few studies to date reporting on maternal and fetal outcomes among pregnant women with EVD, hence the justification for this comprehensive review of these published studies. Methods: Published studies in English that reported on maternal and or fetal outcome among pregnant women with EVD up to May 2016 were searched in electronic databases (Google Scholar, Medline, Embase, PubMed, AJOL, and Scopus). Studies that did not satisfy the inclusion criteria were excluded. We extracted the following variables from each study: geographical location, year of the study, settings of the study, participants, maternal and fetal outcome.Result: There were 12 studies that reported on 108 pregnant women and 110 fetal outcomes. Six of the studies were case reports, 3 retrospective studies, 2 cross-sectional studies and 1 was a technical report. There were 91(84.3%) deaths out of the 108 pregnant women, while only 1(0.9%) fetal survival was reported out of 110. Survival rate among the 15 patients that had spontaneous abortion/stillbirth or induced delivery was 100%. Conclusion: There was a poor maternal and fetal outcome among pregnant women with EVD, and fetal evacuation significantly improves maternal survival.

Keywords: Africa, ebola, maternofetal, outcome

Procedia PDF Downloads 260

Authors: Shiamaa Eltantawy, Gihan Sobhy, Alif Alaam

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Wilson disease, or hepatolenticular degeneration, is an autosomal recessive disease that results in excess copper buildup in the body. It primarily affects the liver and basal ganglia of the brain, but it can affect other organ systems. Musculoskeletal abnormalities, including premature osteoarthritis, skeletal deformity, and pathological bone fractures, can occasionally be found in WD patients with a hepatic or neurologic type. The aim was to assess the prevalence of osteoporosis and osteopenia in Wilson’s disease patients. This case-control study was conducted on ninety children recruited from the inpatient ward and outpatient clinic of the Paediatric Hepatology, Gastroenterology, and Nutrition department of the National Liver Institute at Menofia University, aged from 1 to 18 years. Males were 49, and females were 41. Children were divided into three groups: (Group I) consisted of thirty patients with WD; (Group II) consisted of thirty patients with chronic liver disease other than WD; (Group III) consisted of thirty age- and sex-matched healthy The exclusion criteria were patients with hyperparathyroidism, hyperthyroidism, renal failure, Cushing's syndrome, and patients on certain drugs such as chemotherapy, anticonvulsants, or steroids. All patients were subjected to the following: 1- Full history-taking and clinical examination. 2-Laboratory investigations: (FBC,ALT,AST,serum albumin, total protein, total serum bilirubin,direct bilirubin,alkaline phosphatase, prothrombin time, serum critine,parathyroid hormone, serum calcium, serum phosphrus). 3-Bone mineral density (BMD, gm/cm2) values were measured by dual-energy X-ray absorptiometry (DEXA). The results revealed that there was a highly statistically significant difference between the three groups regarding the DEXA scan, and there was no statistically significant difference between groups I and II, but the WD group had the lowest bone mineral density. The WD group had a large number of cases of osteopenia and osteoporosis, but there was no statistically significant difference with the group II mean, while a high statistically significant difference was found when compared to group III. In the WD group, there were 20 patients with osteopenia, 4 patients with osteoporosis, and 6 patients who were normal. The percentages were 66.7%, 13.3%, and 20%, respectively. Therefore, the largest number of cases in the WD group had osteopenia. There was no statistically significant difference found between WD patients on different treatment regimens regarding DEXA scan results (Z-Score). There was no statistically significant difference found between patients in the WD group (normal, osteopenic, or osteoporotic) regarding phosphorus (mg/dL), but there was a highly statistically significant difference found between them regarding ionised Ca (mmol/L). Therefore, there was a decrease in bone mineral density when the Ca level was decreased. In summary, Wilson disease is associated with bone demineralization. The largest number of cases in the WD group in our study had osteopenia (66.7%). Different treatment regimens (zinc monotherapy, Artamin, and zinc) as well as different laboratory parameters have no effect on bone mineralization in WD cases. Decreased ionised Ca is associated with low BMD in WD patients. Children with WD should be investigated for BMD.

Keywords: wilson disease, Bone mineral density, liver disease, osteoporosis

Procedia PDF Downloads 55

Authors: Larissa Pliska, Isabel Neitzel, Michael Buschermöhle, Olga Kunina-Habenicht, Ute Ritterfeld

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Visual preferences, which can be assessed using eye tracking technologies, are considered one of the defining hallmarks of Autism Spectrum Disorder (ASD). Specifically, children with ASD show a decreased preference for social images rather than geometric images compared to typically developed (TD) children. Such differences are already prevalent at a very early age and indicate the severity of the disorder: toddlers with ASD who preferred geometric images when confronted with social and geometric images showed higher ASD symptom severity than toddlers with ASD who showed higher social attention. Furthermore, the complexity of social pictures (one child playing vs. two children playing together) as well as the mode of stimulus presentation (video or image), are not decisive for the marker. The average age of diagnosis for ASD in Germany is 6.5 years, and visual preference data on this age group is missing. In the present study, we therefore investigated whether visual preferences persist into school age. We examined the visual preferences of 16 boys aged 6 to 11 with ASD and unimpaired cognition as well as TD children (1:1 matching based on children's age and the parent's level of education) within an experimental setting. Different stimulus presentation formats (images vs. videos) and different levels of stimulus complexity were included. Children with and without ASD received pairs of social and non-social images and video stimuli on a screen while eye movements (i.e., eye position and gaze direction) were recorded. For this specific use case, KIZMO GmbH developed a customized, native iOS app (KIZMO Face-Analyzer) for use on iPads. Neither the format of stimulus presentation nor the complexity of the social images had a significant effect on the visual preference of children with and without ASD in this study. Despite the tendency for a difference between the groups for the video stimuli, there were no significant differences. Overall, no statistical differences in visual preference occurred between boys with and without ASD, suggesting that gaze preference in these groups is similar at primary school age. One limitation is that the children with ASD were already receiving Autism-specific intervention. The potential of a visual preference task as an indicator of ASD can be emphasized. The article discusses the clinical relevance of this marker in elementary school children.

Keywords: autism spectrum disorder, eye tracking, hallmark, visual preference

Procedia PDF Downloads 58

Authors: Thananyada Buapian

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Overnutrition is emerging as a morbid disease in developing and Westernized countries. Because of its comorbidity diseases, it is cost-effective to prevent and manage this disease earlier. In Thailand, this alarming disease has long been studied, but the prevalence is still higher than that in the past. Physicians should recognize it well and have a definite direction to face and combat this dangerous disease. Rapid changes in the tremendous figure of overnutrition students indicate that genetic factors are not the primary determinants since human genes have remained unchanged for a century. This study aims to assess the prevalence of overnutrition students and to investigate the non-genetic factors affecting over nutrition students. A cross-sectional school-based survey was conducted. A two-stage sampling was adopted. Respondents included 1,850 students in grades 4 to 6 in Ayutthaya Province. An anthropometric measurement and questionnaire were developed. Childhood over nutrition was defined as a weight-for-height Z-score above +2SD of NCHS/WHO references. About thirty three percent of the children were over nutrition in Ayutthaya province. Stepwise multiple logistic regression analysis showed that 8 statistically significant non genetic factors explain the variation of childhood over nutrition by 18 percent. Sex is the prime factor to explain the variation of childhood over nutrition, followed by duration of light physical activities, duration of moderate physical activities, having been breastfed, the presence of a healthy role model of the caregiver, number of siblings, birth order, and occupation of the caregiver, respectively. Non genetic factors, especially the subjects’ demographic and physical activities, as well as the caregivers’ background and family environment, should be considered in viable approach to remedy this health imbalance in children.

Keywords: non genetic factors, non-genetic, over nutrition, over nutrition students

Procedia PDF Downloads 270

Authors: Serena Gomez, Raeesa Tanseen, Netra Shaligram, Nithin Francis, Sandesh B. J.

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The human gut consists of a community of microbes which has a lot of effects on human health disease. Metabolic modeling can help to predict relative populations of stable microbes and their effect on health disease. In order to study and visualize microbes in the human gut, we developed a tool that offers the following modules: Build a tool that can be used to perform Flux Balance Analysis for microbes in the human gut using the Artificial Bee Colony optimization algorithm. Run simulations for an individual microbe in different conditions, such as aerobic and anaerobic and visualize the results of these simulations.

Keywords: microbes, metabolic modeling, flux balance analysis, artificial bee colony

Procedia PDF Downloads 96

Authors: Hamidreza Jahani, Zahra Salehzadeh, Ehsan Amini, Mohsen Tohidifar

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Calvarial Hyperostosis Syndrome (CHS) is a benign bone disease of the skull. It is a non-neoplastic and proliferative bone disease, and the main feature of the disease is progressive and asymmetrical bone involvement. CHS is mostly reported in young male and female bullmastiff dogs and less frequently in other breeds. The etiology of CHS is unknown. This is the first case report of CHS in Iran. A 3-month-old male Persian Mastiff was presented with chief complaints of multiple episodes of seizure, pacing, bizarre behavior, delayed growth, head pressing, and difficulty in opening the mouth. Central blindness and open fontanelles were observed in clinical examination. No abnormality was found in the complete blood count and routine blood biochemical tests. CT scan findings include cortical thickening of frontal and parietal bones and enlargement of the left retropharyngeal lymph node. For treatment, oral clindamycin for two weeks, prednisolone and phenobarbital for one month, respectively, were administrated, and the case showed improvement after a week and recovered after one month.

Keywords: calvarial hyperostosis, Persian Mastiff, frontal bone, seizure

Procedia PDF Downloads 131

Authors: Irfan Abdulrahman Sheth, Sohil Pothiawala

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Dermatomyositis is an idiopathic inflammatory myopathy, traditionally characterized by a progressive, symmetrical proximal muscle weakness and pathognomonic or characteristic cutaneous manifestations. We report a case of a 60-year old Chinese female who was referred from polyclinic for allergic rash over the body after applying hair dye 3 weeks ago. It was associated with puffiness of face, shortness of breath and hoarse voice since last 2 weeks with decrease effort tolerance. She also complained of dysphagia/ myalgia with progressive weakness of proximal muscles and palpitations. She denied chest pain, loss of appetite, weight loss, orthopnea or fever. She had stable vital signs and appeared cushingoid. She was noted to have rash over the scalp/ face and ecchymosis over the right arm with puffiness of face and periorbital oedema. There was symmetrical muscle weakness and other neurological examination was normal. Initial impression was of allergic reaction and underlying nephrotic syndrome and Cushing’s syndrome from TCM use. Diagnostic tests showed high Creatinine kinase (CK) of 1463 u/l, CK–MB of 18.7 ug/l and Troponin –T of 0.09 ug/l. The Full blood count and renal panel was normal. EMG showed inflammatory myositis. Patient was managed by rheumatologist and discharged on oral prednisolone with methotrexate/ ergocalciferol capsule and calcium carb, vitamin D tablets and outpatient follow up. In some patients, cutaneous disease exists in the absence of objective evidence of muscle inflammation. Management of dermatomyositis begins with careful investigation for the presence of muscle disease or of additional systemic involvement, particularly of the pulmonary, cardiac or gastrointestinal systems, and for the possibility of an accompanying malignancy. Muscle disease and systemic involvement can be refractory and may require multiple sequential therapeutic interventions or, at times, combinations of therapies. Thus, we want to highlight to the physicians that the cutaneous disease of dermatomyositis should not be confused with allergic reaction. It can be particularly challenging to diagnose. Early recognition aids appropriate management of this group of patients.

Keywords: dermatomyositis, myopathy, allergy, cutaneous disease

Procedia PDF Downloads 333

Authors: Ezeh Chukwunonso Peter Excel, Akruti Vg

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Aim/Background: To show that even after undergoing 1-5 courses of chemotherapy for Gestational Trophoblastic Disease (GTD) reproductive health of women is intact and they conceive successfully after it. Method: Retrospective cohort analysis using data from the Lugansk regional maternity hospital database of years 1993-2013, which shows n=18 females had GTD and underwent 1-5 courses of chemotherapy. Results and Discussion: Frequency of GTD was rare. All 18 patients (pts) belong to age group of 17-39 years, covering wide range of reproductive age. Out of 18 pts, 15 had hydatidiform mole (HM) while other 3 had choriocarcinoma (CC). In anamnesis, among CC pts, 1 had early pre-eclampsia at 24 weeks and 1 had 4th week of late postpartum (PP) bleeding, while all HM pts had genital inflammatory diseases, 1 pt of HM during follow-up had High hCG and 3 times curettage in 5 months. 18 women became pregnant for 25 times after chemotherapy. Chemotherapy was given under indication of either high level of HCG, luteal cyst >6cm or path-morphological results of curettage. CC 3 pts had (2 spontaneous abortions (SA), 2 term cesarean section (CS), 1 preterm CS). HM 15 pts had (3 artificial abortion, 2 SA, 7CS (5 term and 2 preterm), 8 vaginal deliveries (7 term and 1 preterm)). Conclusion: During our research we got 22.2% preterm deliveries and 55.6% CS which is higher than the normal cases, but still all the 18 women were able to have kids successfully after chemotherapy. So we can conclude that chemotherapy for GTD was successful in keeping the reproductive health of women intact.

Keywords: reproductive health, chemotherapy, gestational trophoblastic disease, women

Procedia PDF Downloads 388

Authors: Makda Aamir, Sood Aayushi, Syed Omar, Nihan Khuld, Iskander Peter, Ijaz Naeem, Sharma Nishant

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Introduction:Glycogen Storage Disease Type-1 (GSD-1) is a rare phenomenon primarily affecting the liver and kidney. Excessive accumulation of glycogen and fat in liver, kidney, and intestinal mucosa is noted in patients with deficiency of Glucose-6-phosphatase deficiency. Patients with GSD-1 have a wide spectrum of symptoms, including hepatomegaly, hypoglycemia, lactic acidemia, hyperlipidemia, hyperuricemia, and growth retardation. Age of onset, rate of disease progression and its severity is variable in this disease.Case:An 18-year-old male with GSD-1a, Von Gierke’s disease, hyperuricemia, and hypertension presented to the hospital with nausea and vomiting. The patient followed an hourly cornstarch regimen during the day and overnight through infusion via a PEG tube. The complaints started at work, where he was unable to tolerate oral cornstarch. He washemodynamically stable on arrival. ABG showed pH 7.372, PaCO2 30.3, and PaO2 92.2. WBC 16.80, K+ 5.8, HCO3 13, BUN 28, Cr 2.2, Glucose 60, AST 115, ALT 128, Cholesterol 352, Triglycerides >1000, Uric Acid 10.6, Lactic Acid 11.8 which trended down to 8.0. CT abdomen showed hepatomegaly and fatty infiltration with the PEG tube in place.He was admitted to the ICU and started on D5NS for hypoglycemia and lactic acidosis. Per request by the patient’s pediatrician, he was transitioned to IV D10/0.45NS at 110mL/Hr to maintain blood glucose above 75 mg/L. Frequent accuchecks were done till he could tolerate his dietary regimen with cornstarch. Lactic acid downtrend to 2.9, and accuchecks ranged between 100-110. Cr improved to 1.3, and his home medications (Allopurinol and Lisinopril) were resumed. He was discharged in stable condition with plans for further genetic therapy work up.Discussion:Mainstay therapy for Von Gierke’s Disease is the prevention of metabolic derangements for which dietary and lifestyle changes are recommended. A low fructose and sucrose diet is recommended by limiting the intake of galactose and lactose to one serving per day. Hypoglycemia treatment in such patients is two-fold, utilizing both quick and stable release sources. Cornstarch has been one such therapy since the 1980s; its slow digestion provides a steady release of glucose over a longer period of time as compared with other sources of carbohydrates. Dosing guidelines vary from age to age and person to person, but it is highly recommended to check BG levels frequently to maintain a BG > 70 mg/dL. Associated high levels of triglycerides and cholesterol can be treated with statins, fibrates, etc. Conclusion:The management of hypoglycemia in GSD 1 disease presents various obstacles which could prove to be fatal. Due to the deficiency of G6P, treatment with a specialized hypoglycemic regimen is warranted. A D10 ½ NS infusion can be used to maintain blood sugar levels as well as correct metabolic or lactate imbalances. Infusion should be gradually weaned off after the patient can tolerate oral feeds as this can help prevent the risk of hypoglycemia and other derangements. Further research is needed in regards to these patients for more sustainable regimens.

Keywords: von gierke, glycogen storage disease, hypoglycemia, genetic disease

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Authors: Ahmed M. Rashed

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Culicoides midges are known to be vectors of disease to both man and animals. For providing information necessary for control methods to be applied to the best advantage, a New jersey light-trap was used. Twenty species were identified during this study and eight species were recorded from Chantilly for the first time, these include C.grisescens, C.nubeculosus, C.cubitalis, C.achrayi, C.circumscriptus, C.stigma, C.reconditus, and C.parroti. The environmental factors, wind speed and temperature were found to have a marked effect on the activity of Culicoides midges. The temperature was found to be positively correlated and the wind speed negatively correlated with the light-trap catch. However, humidioty could not be shown to have any effect on the catch.

Keywords: culicoides, meteorological factors, wind speed, disease

Procedia PDF Downloads 451

Authors: K. Biswas, U. H. Armin, S. M. J. Prodhan, J. A. Prithul, S. Sarker, F. Afrin

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Alzheimer’s disease (AD) (a progressive neurodegenerative disorder) is mostly predominant cause of dementia in the elderly. Prolonging the function of acetylcholine by inhibiting both acetylcholinesterase and butyrylcholinesterase is most effective treatment therapy of AD. Traditionally Pterocarpus santalinus L. is widely known for its medicinal use. In this study, in vitro acetylcholinesterase inhibitory activity was investigated and methanolic extract of the plant showed significant activity. To confirm this activity (in vivo), learning and memory enhancing effects were tested in mice. For the test, memory impairment was induced by scopolamine (cholinergic muscarinic receptor antagonist). Anti-amnesic effect of the extract was investigated by the passive avoidance task in mice. The study also includes brain acetylcholinesterase activity. Results proved that scopolamine induced cognitive dysfunction was significantly decreased by administration of the extract solution, in the passive avoidance task and inhibited brain acetylcholinesterase activity. These results suggest that bark extract of Pterocarpus santalinus can be better option for further studies on AD via their acetylcholinesterase inhibitory actions.

Keywords: Pterocarpus santalinus, cholinesterase inhibitor, passive avoidance, Alzheimer’s disease

Procedia PDF Downloads 240

Authors: Saima Suleman, Kalsoom Sughra, Naeem Mahmood Ashraf

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Mycobacterium tuberculosis is a communicable chronic illness. This disease is being highly focused by researchers as it is present approximately in one third of world population either in active or latent form. The genetic makeup of a person plays an important part in producing immunity against disease. And one important factor association is single nucleotide polymorphism of relevant gene. In this study, we have studied association between single nucleotide polymorphism of CD-209 gene (encode DC-SIGN receptor) and patients of tuberculosis. Dry lab (in silico) and wet lab (RFLP) analysis have been carried out. GWAS catalogue and GEO database have been searched to find out previous association data. No association study has been found related to CD-209 nsSNPs but role of CD-209 in pulmonary tuberculosis have been addressed in GEO database.Therefore, CD-209 has been selected for this study. Different databases like ENSEMBLE and 1000 Genome Project has been used to retrieve SNP data in form of VCF file which is further submitted to different software to sort SNPs into benign and deleterious. Selected SNPs are further annotated by using 3-D modeling techniques using I-TASSER online software. Furthermore, selected nsSNPs were checked in Gujrat and Faisalabad population through RFLP analysis. In this study population two SNPs are found to be associated with tuberculosis while one nsSNP is not found to be associated with the disease.

Keywords: association, CD209, DC-SIGN, tuberculosis

Procedia PDF Downloads 306

Authors: Bulcha Belay Etana, Benny Malengier, Janarthanan Krishnamoorthy, Timothy Kwa, Lieva Vanlangenhove

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Electromyography measures the electrical activity of muscles using surface electrodes or needle electrodes to monitor various disease conditions. Recent developments in the signal acquisition of electromyograms using textile electrodes facilitate wearable devices, enabling patients to monitor and control their health status outside of healthcare facilities. Here, we have developed and tested wearable textile electrodes to acquire electromyography signals from patients suffering from Parkinson’s disease and incorporated a feedback-control system to relieve muscle cramping through thermal stimulus. In brief, the textile electrodes made of stainless steel was knitted into a textile fabric as a sleeve, and their electrical characteristic, such as signal-to-noise ratio, was compared with traditional electrodes. To relieve muscle cramping, a heating element made of stainless-steel conductive yarn sewn onto a cotton fabric, coupled with a vibration system, was developed. The system integrated a microcontroller and a Myoware muscle sensor to activate the heating element as well as the vibration motor when cramping occurred. At the same time, the element gets deactivated when the muscle cramping subsides. An optimum therapeutic temperature of 35.5°C is regulated and maintained continuously by a heating device. The textile electrode exhibited a signal-to-noise ratio of 6.38dB, comparable to that of the traditional electrode’s value of 7.05 dB. For a given 9 V power supply, the rise time for the developed heating element was about 6 minutes to reach an optimum temperature.

Keywords: smart textile system, wearable electronic textile, electromyography, heating textile, vibration therapy, Parkinson’s disease

Procedia PDF Downloads 71

Authors: Rachel Matar, Maxime Merheb

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Chemical drugs have been used for many centuries as the only way to cure diseases until the novel gene therapy has been created in 1960. Gene therapy is based on the insertion, correction, or inactivation of genes to treat people with genetic illness (1). Gene therapy has made wonders in Parkison’s, Alzheimer and multiple sclerosis. In addition to great promises in the healing of deadly diseases like many types of cancer and autoimmune diseases (2). This method implies the use of recombinant DNA technology with the help of different viral and non-viral vectors (3). It is nowadays used in somatic cells as well as embryos and gametes. Beside all the benefits of gene therapy, this technique is deemed by some opponents as an ethically unacceptable treatment as it implies playing with the genes of living organisms.

Keywords: gene therapy, genetic disease, cancer, multiple sclerosis

Procedia PDF Downloads 538

Authors: Tuhina-khatun, Mohamed Hanafi Musa, Mohd Rafii Yosup, Wong Mui Yun, Aktar-uz-Zaman, Mahbod Sahebi

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Suppression subtractive hybridization (SSH) method is valuable tool for identifying differentially regulated genes in disease specific or tissue specific genes important for cellular growth and differentiation. It is a widely used method for separating DNA molecules that distinguish two closely related DNA samples. SSH is one of the most powerful and popular methods for generating subtracted cDNA or genomic DNA libraries. It is based primarily on a suppression polymerase chain reaction (PCR) technique and combines normalization and subtraction in a solitary procedure. The normalization step equalizes the abundance of DNA fragments within the target population, and the subtraction step excludes sequences that are common to the populations being compared. This dramatically increases the probability of obtaining low-abundance differentially expressed cDNAs or genomic DNA fragments and simplifies analysis of the subtracted library. SSH technique is applicable to many comparative and functional genetic studies for the identification of disease, developmental, tissue specific, or other differentially expressed genes, as well as for the recovery of genomic DNA fragments distinguishing the samples under comparison.

Keywords: suppression subtractive hybridization, differentially expressed genes, disease specific genes, tissue specific genes

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Authors: Helga Martins, Idália Matias

Abstract:

Background:Multiple sclerosis is a chronic inflammatory autoimmune demyelinating disease that affects young adults. Multiple sclerosis is a chronic disease in which the patient needs to self-manage the disease and the therapeutic regimen. Consequently, the promotion of health literacy assumes a relevant role for the accessibility, understanding, and use of information in order to promote and maintain the health of patients with multiple sclerosis. Aim: To determine the impact of lower health literacy in the self-management of patients with a multiple sclerosis. Methods: Literature review based on a search on the following electronic databases: CINAHLand MEDLINE; comprising all results published between September 2016 and September 2021. The search strategy was: (“Self-management [MeSH]” AND “Multiple sclerosis[MeSH]”AND “Health literacy[MeSH]”). The inclusion criteria were: original papers reporting about multiple sclerosis patients; participants with age above 18 years old, written in English, Spanish, French, or Portuguese. Two independent reviewers have done the screening and analysis of the results. 38 citations were identified, and after duplicates removal, a total of 25 results were screened; 14 were included after the application of the inclusion criteria. Results: The lower health literacy in the self-management of patients with a multiple sclerosis is related toless healthy choices, riskier health behavior, poor health outcomes, decreased of adhering to the therapeutic regimen after discharge, less self-management of chronic illness, and increased the time of hospitalization. Conclusion: Inadequate levels of health literacy contribute to poor health outcomes, unsuccessful self-management of chronic illness, and inadequate adherence to the therapeutic regimen. Therefore, health literacy is important for health policy and the healthcare services, as it can be understood as a mediator of self-management of multiple sclerosis disease.

Keywords: health literacy, multiple sclerosis, review, self-management

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Authors: Amadou Wurry Jallow, Adama N. S. Bah, Karamo Bah, Shih-Ye Wang, Kuo-Chung Chu, Chien-Yeh Hsu

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Chronic kidney disease (CKD) is a major public health challenge with high prevalence, rising incidence, and serious adverse consequences. Developing effective risk prediction models is a cost-effective approach to predicting and preventing complications of chronic kidney disease (CKD). This study aimed to develop an accurate machine learning model that can dynamically identify individuals at risk of CKD using various kinds of diagnostic data, with or without laboratory data, at different follow-up points. Creatinine is a key component used to predict CKD. These models will enable affordable and effective screening for CKD even with incomplete patient data, such as the absence of creatinine testing. This retrospective cohort study included data on 19,429 adults provided by a private research institute and screening laboratory in Taiwan, gathered between 2001 and 2015. Univariate Cox proportional hazard regression analyses were performed to determine the variables with high prognostic values for predicting CKD. We then identified interacting variables and grouped them according to diagnostic data categories. Our models used three types of data gathered at three points in time: non-laboratory, laboratory, and metabolic indices data. Next, we used subgroups of variables within each category to train two machine learning models (Random Forest and XGBoost). Our machine learning models can dynamically discriminate individuals at risk for developing CKD. All the models performed well using all three kinds of data, with or without laboratory data. Using only non-laboratory-based data (such as age, sex, body mass index (BMI), and waist circumference), both models predict chronic kidney disease as accurately as models using laboratory and metabolic indices data. Our machine learning models have demonstrated the use of different categories of diagnostic data for CKD prediction, with or without laboratory data. The machine learning models are simple to use and flexible because they work even with incomplete data and can be applied in any clinical setting, including settings where laboratory data is difficult to obtain.

Keywords: chronic kidney disease, glomerular filtration rate, creatinine, novel metabolic indices, machine learning, risk prediction

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Authors: Ram Sharan Mehta, Dina Khanal, Pushpa Parajuli, Gayanand Mandal, Bijaya Bartuala

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Background: Cardiovascular disease (CVD) is the leading cause of death worldwide. Adequate awareness of risk factors of CVD is the first step towards effective preventive strategies to combat the CVD burden in diabetes patients.This study aims to assess the awareness on risk factors of CVD among patients with diabetes mellitus attending diabetic clinic of BPKIHS and to find the association between awareness with their selected socio demographic variables. Methods and Material: A descriptive cross sectional study was conducted among 112 patients with diabetes in diabetic clinic of BPKIHS. Convenient sampling technique was used for data collection over duration of one month using interview schedule by HDFQ II tool. Data were analyzed by using descriptive and inferential statistics. (Chi square). Results: The mean age of respondents was 55.4±12.13 years. That mean HDFQ score was 14.31± 5.08. Only 33% of the respondents had adequate level of awareness whereas majority of the respondents (67%) had inadequate level of awareness. Majority of the respondent (83.9%) were aware about smoking, (78.6%) physical activity, (75%) increasing age, (75.9%) high blood pressure, (71.4%) overweight respectively. Whereas most of the respondents were not aware of high cholesterol, fatty diet, preventive strategies and association of diabetes with CVD. Awareness was statistically significant with (p=0.043) educational status, (p=0.025) monthly income, (p=0.05) residence, (p=0.006) CVD information received and (p=0.022) co morbid condition as a heart disease. Conclusion: The findings of this study concluded most of the respondents had an inadequate level of awareness on risk factors of CVD. So Effective education and appropriate preventive strategies of CVD are indeed important to reduce CVD burden in diabetes patients.

Keywords: cardiovascular disease, awareness, diabetes patients, risk

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Authors: Gongbing Shan, Shiming Li, Zhao Zhang, Bingjun Wan

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Badminton originated in ancient civilizations in Europe and Asia more than 2000 years ago. Presently, it is played almost everywhere with estimated 220 million people playing badminton regularly, ranging from professionals to recreational players; and it is the second most played sport in the world after soccer. In Asia, the popularity of badminton and involvement of people surpass soccer. Unfortunately, scientific researches on badminton skills are hardly proportional to badminton’s popularity. A search of literature has shown that the literature body of biomechanical investigations is relatively small. One of the dominant skills in badminton is the forehand overhead smash, which consists of 1/5 attacks during games. Empirical evidences show that one has to adjust the body position in relation to the coming shuttlecock to produce a powerful and accurate smash. Therefore, positioning is a fundamental aspect influencing smash quality. A search of literature has shown that there is a dearth/lack of study on this fundamental aspect. The goals of this study were to determine the influence of positioning and training experience on smash quality in order to discover information that could help learn/acquire the skill. Using a 10-camera, 3D motion capture system (VICON MX, 200 frames/s) and 15-segment, full-body biomechanical model, 14 skilled and 15 novice players were measured and analyzed. Results have revealed that the body positioning has direct influence on the quality of a smash, especially on shuttlecock release angle and clearance height (passing over the net) of offensive players. The results also suggest that, for training a proper positioning, one could conduct a self-selected comfort position towards a statically hanged shuttlecock and then step one foot back – a practical reference marker for learning. This perceptional marker could be applied in guiding the learning and training of beginners. As one gains experience through repetitive training, improved limbs’ coordination would increase smash quality further. The researchers hope that the findings will benefit practitioners for developing effective training programs for beginners.

Keywords: 3D motion analysis, biomechanical modeling, shuttlecock release speed, shuttlecock release angle, clearance height

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Authors: Qiannan Zhuo, Wanglin Yan

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Minamata City and its citizens have been suffered from Minamata Disease, one of the worst environmental problems in Japan, since 1956. To mitigate the bad images brought by Minamata Disease, Minamata City has started a series of environmental friendly activities from 60 years ago. Garbage separation is the very beginning one. It has been already done for more than 20 years since Minamata citizens started to separate their garbage into more than 20 categories. In this research, the author evaluated the effectiveness of the waste management policy in Minamata city by analyzing the recycle rate and the landfill amount., and also pointed out the problems brought by it through the qualitative survey.

Keywords: Minamata City, households waste, garbage separation, recycle reduce reuse

Procedia PDF Downloads 234

Authors: Liudmila Garzanova, Lidia Ananyeva, Olga Koneva, Olga Ovsyannikova, Oxana Desinova, Mayya Starovoytova, Rushana Shayahmetova, Anna Khelkovskaya-Sergeeva

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Abstract Objectives. Rituximab (RTX) shown a positive effect in the treatment of systemic sclerosis (SSc). But there is still not enough data on comparing the effectiveness of RTX with immunosuppressants (IS). The aim of our study was to compare changes of lung function and skin score in SSc between two groups of patients (pts) - on RXT therapy (prescribed after ineffectiveness of previous therapy with IS) and on therapy with IS only. Methods. This study included 103 pts received RTX as an addition to previous therapy (group 1) and 65 pts received therapy with IS and prednisolone (group 2). The mean follow-up period was 12.6±10.7months. In group 1 the mean age was 47±12.9 years, female – 88 pts (84%), the diffuse cutaneous subset of the disease had 55 pts (53%). The mean disease duration was 6.2±5.5 years. 82% pts had interstitial lung disease (ILD) and 92% were positive for ANA, 67% of them were positive for antitopoisomerase-1. All pts received prednisolone at a dose of 11.3±4.5 mg/day, IS at inclusion received 47% of them. The cumulative mean dose of RTX was 1.7±0.6 g. In group 2 the mean age was 50.8±13.8 years, female-53 pts (82%), the diffuse cutaneous subset of the disease had 44 pts (68%). The mean disease duration was 8.8±7.7 years. 81% pts had ILD and 88% were positive for ANA, 58% of them were positive for antitopoisomerase-1. All pts received prednisolone at a dose of 8.69±4.28 mg/day, IS received 57% of them. Cyclophosphamide (CP) received 45% of pts. The cumulative mean dose of CP was 10.2±15.1g. D-penicillamine received 30% of pts. Other pts was on mycophenolate mofetil or methotrexate therapy in single cases. The pts of the compared groups did not differ in the main demographic and clinical parameters. The results are presented as delta (Δ) - difference between the baseline parameter and follow up point. Results. In group 1 there was an improvement of all outcome parameters: increased of forced vital capacity, % predicted - ΔFVC=4% (p=0.0004); Diffusing capacity for carbon monoxide, % predicted remained stable (ΔDLCO=0.1%); improvement of the Rodnan skin score-ΔmRss=3.4 (p=0.001); decrease of Activity index (EScSG-AI) - ΔActivity index=1.7 (p=0.001). In group 2 the changes was insignificant: ΔFVC=-2.3%, ΔmRss=0.87, ΔActivity index=0.3. But there was a significant decrease of DLCO: ΔDLCO=-5.1% (p=0.001). Conclusion. The results of our study confirm the data on the positive effect of RTX in complex therapy in pts with SSc (decrease of skin induration, increase of FVC, stabilization of DLCO). Meantime, pts on IS and prednisolone therapy shown the worsening of lung function and insignificant changes of other clinical parameters. RTX could be considered as a more effective option in complex treatment of SSc in comparison with IS therapy

Keywords: immunosuppressants, interstitial lung disease, systemic sclerosis, rituximab

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Authors: Chueh Chang, Chia-jung Hsieh, Fu-yu Yu, Yu-Hwa Lin

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Background:The majority of women diagnosed with breast cancer undergo treatment involving surgery and radiotherapy or chemotherapy, or both. With these major advances in breast cancer management, many patients still have to deal with short or long-term side effects and psychological distress related to the disease and treatment, which have a substantial impact on their quality of life. The Laughing Qigong Program (LQP) is an interactive laughter program that combines the physical and physiological benefits of laughter with the mental benefits of Chinese qigong. Purpose: In order to improve the quality of life for breast cancer women in the community as well as echoing the WHO 2004 “Promoting Mental Health” for every one. This study focused on how to promote the positive mental health for women of breast cancer through the “laughter program” in Taiwan. During the presentation, how to practice Laughing Qigong will be demonstrated. Method: Using nonequivalent pretest-posttest design, ix-one breast cancer patients were volunteered to enroll in this study from the Taiwan Breast Cancer Alliance (TBCA). Thirty patients were assigned to the experimental group and the other 31 patients were assigned to the control group. The women who were assigned to the experimental group received laughter program one hour per session, once a week, totally 12 sessions. All subjects were tested before and after the intervention on the following: Self-Esteem scale (RSE), Face Scale (FS), Anxiety and pain experience were measured as psychological markers; saliva cortisol (CS) as an immunological marker; blood pressure (BP), heart rate (HR),and heart rate variability (HRV) as physiological markers of the body’s response to stress. Results: After comparing the experimental and control groups, the results revealed that those breast cancer women with “laughing program” their sense of humor were improved, less uncomfortable on self report physical conditions, more positive attitudes toward stress management by using laughter, and had emotional improvement according to the face scale.

Keywords: mental health promotion, breast cancer, laughing Qigong, women

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Authors: Souad Mouzaoui, Bahia Djerdjouri

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Oxidative stress is one of the main factors involved in the onset and chronicity of inflammatory bowel disease (IBD). In this study, we investigated the beneficial effects of a potent natural antioxidant, curcumin (Cur) on colitis and mitochondrial dysfunction in trinitrobenzene sulfonic acid (TNBS)-induced colitis in mice. Rectal instillation of the chemical irritant TNBS (30 mg kg-1) induced the disruption of distal colonic architecture and a massive inflammatory cells influx to the mucosa and submucosa layers. Under these conditions, daily administration of Cur (25 mg kg-1) efficiently decreased colitis scores in the inflamed distal colon by reducing leukocyte infiltrate as attested by reduced myeloperoxidase (MPO) activity. Moreover, the levels of nitrite, an end product of inducible NO synthase activity (iNOS) and malonyl dialdehyde (MDA), a marker of lipid peroxidation increased in a time depending manner in response to TNBS challenge. Conversely, the markers of the antioxidant pool, reduced glutathione (GSH) and catalase activity (CAT) were drastically reduced. Cur attenuated oxidative stress markers and partially restored CAT and GSH levels. Moreover, our results expanded the effect of Cur on TNBS-induced colonic mitochondrial dysfunction. In fact, TNBS induced mitochondrial swelling and lipids peroxidation. These events reflected in the opening of mitochondrial transition pore and could be an initial indication in the cascade process leading to cell death. TNBS inhibited also mitochondrial respiratory activity, caused overproduction of mitochondrial superoxide anion (O2-.) and reduced level of mitochondrial GSH. Nevertheless, Cur reduced the extent of mitochondrial oxidative stress induced by TNBS and restored colonic mitochondrial function. In conclusion, our results showed the critical role of oxidative stress in TNBS-induced colitis. They highlight the role of colonic mitochondrial dysfunction induced by TNBS, as a potential source of oxidative damages. Due to its potent antioxidant properties, Cur opens a promising therapeutic approach against oxidative inflammation in IBD.

Keywords: colitis, curcumin, mitochondria, oxidative stress, TNBS

Procedia PDF Downloads 252

Authors: Hsueh Ping Peng

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End-stage renal disease most commonly occurs in the elderly population. Elderly people are approaching the end of their lives, and when facing major life-threatening situations, apart from aggressive medical treatment, they can also choose treatment methods such as hospice care to improve their quality of life. The purpose of this study was to investigate factors associated with the awareness and willingness to sign hospice and palliative care consent forms in elderly with end-stage renal disease. This study used both quantitative, cross-sectional study designs. In the quantitative section, 110 elderly patients (aged 65 or above) with end-stage renal disease receiving conventional hemodialysis were recruited as study participants from a medical center in Taipei City. Data were collected using structured questionnaires. Study tools included basic demographic data, questionnaires on the awareness and perception of hospice and palliative care, etc. After collecting the data, data analysis was conducted using SPSS 20.0 statistical software, including descriptive statistics, chi-square test, logistic regression, and other inferential statistics. The results showed that the average age of participants was 71.6 years old, more males than females, average years of dialysis was 6.1 years and most subjects rated their self-perceived health status as fair. Results of the study are summarized as follows: Elderly people with end-stage renal disease did not have sufficient knowledge and awareness about hospice and palliative care. Influencing factors included level of education, marital status, years of dialysis and age, etc. Demographic factors influencing the signing of consent forms included gender, marital status, and age, which all showed significant impacts. Factors taken into consideration when signing consent forms included awareness of hospice care, understanding the relevant definitions of hospice care, and understanding that consent may be modified or cancelled at any time; it was predicted that people who knew more about ways to receive hospice care or more related definitions were more willing to sign the consent forms. In the qualitative study section, 10 participants who signed the consent form, five male, and 5 female, between the ages of 65-90, have completed the semi-structured interviews. Analysis of the interviews revealed six themes: (1) passing away peacefully, (2) autonomy on arrangements of life and death, (3) unwillingness to increase family and social burden, (4) friends and relatives’ experience influencing the decision to give consent, (5) sharing information to facilitate the giving of consent, (6) facing each day with ease, to reflect the experience and factors of consideration for elderly with end-stage renal disease when signing consent forms. The results of this study provides the awareness, thoughts and feelings of elderly with end-stage renal disease on signing consent forms, and serve as a future reference for the dialysis unit to enhance the promotion of hospice and palliative care and related caregiving measures, thereby improving the quality of life and care for elderly people with end-stage renal disease.

Keywords: end-stage renal disease, hemodialysis, hospice and palliative care, awareness, willingness

Procedia PDF Downloads 162

Authors: Sihyun Chae, Ryoto Arai, Waldo Concepcion, Paula Popescu

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The kidneys perform an important role in the human hormones that regulate the blood pressure, produce an active form of vitamin D and control the production of red blood cells. Kidney disease can cause health problems, such as heart disease. Also, increase the chance of having a stroke or heart attack. There are mainly to types of treatments for kidney disease, dialysis, and kidney transplant. For a better quality of life, the kidney transplant is desirable. However, kidney transplant can cause antibody reaction and patients’ body would be attacked by immune system of their own. For solving that issue, patients with transplanted kidney always take immunosuppressive drugs which can hurt kidney as side effects. Patients willing to do a kidney transplant have a waiting time of 3.6 years in average searching to find an appropriate kidney, considering there are almost 96,380 patients waiting for kidney transplant. There is a promising method to solve these issues: bioartificial kidney. Our membrane is specially designed with unique perforations capable to filter the blood cells separating the white blood cells from red blood cells. White blood cells will not pass through the encapsulated kidney preventing the immune system to attack the new organ and eliminating the need of a matching donor. It is possible to construct life-time long encapsulation without needing pumps or a power supply on the cell’s separation method preventing futures surgeries due the Cross-Channel Flow inside the device. This technology allows the possibility to use an animal kidney, prevent cancer cells to spread through the body, arm and leg transplants in the future. This project aims to improve the quality of life of patients with kidney disease.

Keywords: kidney encapsulation, immunosuppression filter, leukocyte filter, leukocyte

Procedia PDF Downloads 197

Authors: Swarkar Sharma, Ekta Rai, Ankit Mahajan, Parvinder Kumar, Manoj K Dhar, Sushil Razdan, Kumarasamy Thangaraj, Carol Wise, Shiro Ikegawa M.D., K.K. Pandita M.D.

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Rare disorders are poorly understood hence, remain uncharacterized or patients are misdiagnosed and get poor medical attention. A rare mysterious skeletal disorder that remained unidentified for decades and rendered many people physically challenged and disabled for life has been reported in an isolated remote village ‘Arai’ of Poonch district of Jammu and Kashmir. This village is located deep in mountains and the population residing in the region is highly consanguineous. In our survey of the region, 70 affected people were reported, showing similar phenotype, in the village with a population of approximately 5000 individuals. We were able to collect samples from two multi generational extended families from the village. Through Whole Exome sequencing (WES), we identified a rare variation NM_003880.3:c.156C>A NP_003871.1:p.Cys52Ter, which results in introduction of premature stop codon in WISP3 gene. We found this variation perfectly segregating with the disease in one of the family. However, this variation was absent in other family. Interestingly, a novel splice site mutation at position c.643+1G>A of WISP3 gene, perfectly segregating with the disease was observed in the second family. Thus, exploiting WES and putting different evidences together (familial histories and genetic data, clinical features, radiological and biochemical tests and findings), the disease has finally been diagnosed as a very rare recessive hereditary skeletal disease “Progressive Pseudorheumatoid Arthropathy of Childhood” (PPAC) also known as “Spondyloepiphyseal Dysplasia Tarda with Progressive Arthropathy” (SEDT-PA). This genetic characterization and identification of the disease causing mutations will aid in genetic counseling, critically required to curb this rare disorder and to prevent its appearance in future generations in the population. Further, understanding of the role of WISP3 gene the biological pathways should help in developing treatment for the disorder.

Keywords: whole exome sequencing, Next Generation Sequencing, rare disorders

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