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Sample records for pilonidal disease analysis

  1. Sacrococcygeal pilonidal disease: analysis of previously proposed risk factors

    Directory of Open Access Journals (Sweden)

    Ali Harlak

    2010-01-01

    Full Text Available PURPOSE: Sacrococcygeal pilonidal disease is a source of one of the most common surgical problems among young adults. While male gender, obesity, occupations requiring sitting, deep natal clefts, excessive body hair, poor body hygiene and excessive sweating are described as the main risk factors for this disease, most of these need to be verified with a clinical trial. The present study aimed to evaluate the value and effect of these factors on pilonidal disease. METHOD: Previously proposed main risk factors were evaluated in a prospective case control study that included 587 patients with pilonidal disease and 2,780 healthy control patients. RESULTS: Stiffness of body hair, number of baths and time spent seated per day were the three most predictive risk factors. Adjusted odds ratios were 9.23, 6.33 and 4.03, respectively (p<0.001. With an adjusted odds ratio of 1.3 (p<.001, body mass index was another risk factor. Family history was not statistically different between the groups and there was no specific occupation associated with the disease. CONCLUSIONS: Hairy people who sit down for more than six hours a day and those who take a bath two or less times per week are at a 219-fold increased risk for sacrococcygeal pilonidal disease than those without these risk factors. For people with a great deal of hair, there is a greater need for them to clean their intergluteal sulcus. People who engage in work that requires sitting in a seat for long periods of time should choose more comfortable seats and should also try to stand whenever possible.

  2. Sacrococcygeal pilonidal disease: analysis of previously proposed risk factors

    Science.gov (United States)

    Harlak, Ali; Mentes, Oner; Kilic, Selim; Coskun, Kagan; Duman, Kazim; Yilmaz, Fahri

    2010-01-01

    PURPOSE Sacrococcygeal pilonidal disease is a source of one of the most common surgical problems among young adults. While male gender, obesity, occupations requiring sitting, deep natal clefts, excessive body hair, poor body hygiene and excessive sweating are described as the main risk factors for this disease, most of these need to be verified with a clinical trial. The present study aimed to evaluate the value and effect of these factors on pilonidal disease. METHOD Previously proposed main risk factors were evaluated in a prospective case control study that included 587 patients with pilonidal disease and 2,780 healthy control patients. RESULTS Stiffness of body hair, number of baths and time spent seated per day were the three most predictive risk factors. Adjusted odds ratios were 9.23, 6.33 and 4.03, respectively (p<0.001). With an adjusted odds ratio of 1.3 (p<.001), body mass index was another risk factor. Family history was not statistically different between the groups and there was no specific occupation associated with the disease. CONCLUSIONS Hairy people who sit down for more than six hours a day and those who take a bath two or less times per week are at a 219-fold increased risk for sacrococcygeal pilonidal disease than those without these risk factors. For people with a great deal of hair, there is a greater need for them to clean their intergluteal sulcus. People who engage in work that requires sitting in a seat for long periods of time should choose more comfortable seats and should also try to stand whenever possible. PMID:20186294

  3. Pilonidal cyst resection

    Science.gov (United States)

    Pilonidal abscess; Pilonidal dimple; Pilonidal disease; Pilonidal cyst; Pilonidal sinus ... An infected pilonidal cyst or abscess requires surgical drainage. It will not heal with antibiotic medicines. If you continue to have infections, the ...

  4. Treatment of pilonidal disease with laser epilation.

    Science.gov (United States)

    Schulze, S M; Patel, N; Hertzog, D; Fares, L G

    2006-06-01

    Pilonidal disease is a debilitating, chronic disease of the natal cleft. It mainly involves the sacrococcygeal region and the presentation varies from asymptomatic pits to painful draining abscesses. Treatment options vary from observation to wide excision. Unfortunately, surgical treatment often results in recurrence. The etiologic agent remains in question, as does the optimal treatment. Our objective was to assess the efficacy of laser epilation as an adjunctive therapy to surgical excision of the pilonidal sinus. Eighteen men and five women were treated with laser epilation in our office from 2001 to 2004. All patients had experienced recurrent folliculitis and had undergone some form of drainage procedure or prior excision. After surgical excision of the affected area, a Vasculite Plus laser was used for the epilation treatments. Each session involved 9 to 12 treatments and the patients underwent an average of two sessions. All 19 of the patients that remain in follow-up report no recurrence of their folliculitis or need for further surgical procedures. During treatment, six of the men and one of the women experienced a superficial wound dehiscence. All healed with local wound care and continued laser treatments. Laser epilation is an effective adjunctive therapy for the treatment of pilonidal disease. Although not curative in and of itself, the removal of hair allows better healing and decreases the chance of recurrence by removal of a significant etiology of pilonidal disease.

  5. Strength of Occipital Hair as an Explanation for Pilonidal Sinus Disease Caused by Intruding Hair.

    Science.gov (United States)

    Doll, Dietrich; Bosche, Friederike D; Stauffer, Verena K; Sinicina, Inga; Hoffmann, Sebastian; van der Zypen, Dominic; Luedi, Markus M

    2017-09-01

    Pilonidal sinus disease is thought to be caused by intrusion of hair into healthy skin; loose hair in the intergluteal fold is thought to promote disease. However, compelling evidence to support these postulates is lacking; the cause of pilonidal sinus disease remains uncertain. To determine whether particular properties of hair are associated with susceptibility to pilonidal sinus disease, we compared physical properties of hairs of patients with pilonidal sinus disease with hairs from control subjects who were matched for sex, BMI, and age. This was an experimental study with establishment of a mechanical strength test for single hairs to quantify the maximum vertical force that a hair could exert, following tests of strength of occipital, lumbar, and intergluteal hair. Hair from patients with pilonidal sinus disease and matched control subjects were harvested from patients of the St. Marienhospital Vechta Department of Procto-Surgery. A total of 17 adult patients with pilonidal sinus disease and 217 control subjects were included. ANOVA and intraclass and interclass variations of data gained from mechanical strength tests of occipital, lumbar, and intergluteal hair were included. Vertical hair strength was significantly greater in patients with pilonidal sinus disease. Occipital hair exhibited 20% greater, glabella sacralis 1.1 times greater, and intergluteal hair 2 times greater strength in patients with pilonidal sinus disease than in matched control subjects (all p = 0.0001). In addition, patients with pilonidal sinus disease presented with significantly more hair at the glabella sacralis and in the intergluteal fold. The study was limited by its relatively small number of patients from a specific cohort of European patients. Occipital hair exhibited considerable vertical strength. Because occipital hair exerted the greatest force and cut hair fragments were found in the pilonidal nest in large quantities, these data suggest that pilonidal sinus disease is

  6. Sacrococcygeal pilonidal disease: sinotomy versus excisional surgery, a retrospective study.

    Science.gov (United States)

    Rabie, M Ezzedien; Al Refeidi, Abdullah A; Al Haizaee, Abdullah; Hilal, Saleh; Al Ajmi, Hassan; Al Amri, Abdul Aziz

    2007-03-01

    Pilonidal disease is a disease of relatively young people, the exact aetiology of which is unknown. Treatment options vary from simple incision to complex flap procedures. Each method has its advocates and they all have a variable recurrence rate. The multiplicity of procedures testifies to the lack of an optimal treatment method. The objective of this study is to compare sinotomy, that is, simply laying the sinus open with the more popular radical surgery, where the sinus-bearing tissues are excised. Patients who were admitted to Aseer Central Hospital, Saudi Arabia with a pilonidal sinus or abscess, in the period from April 1999 to January 2005, were identified. The medical records were reviewed and data related to the patient characteristics, disease process and the procedures carried out were noted. Identified patients were contacted by phone to check recurrence of the disease and their abidance to instructions regarding regular hair removal from the area. Eighty-one patients were included in the study. The median age was 24.2 years (range 16-60 years). There were 9 women and 72 men. All procedures were carried out under general anaesthesia except sinotomy, which was carried out under general or local anaesthesia. The surgical procedure was incision and drainage of abscess in 16 cases (19.8%), excision with primary closure in 29 cases (35.8%), excision by the open method in 15 cases (18.5%), sinotomy in 14 cases (17.3%) and rhomboid flap construction in 8 cases (9.9%). The overall recurrence rate was 26.9%, and the mean hospital stay was 4.1 days. Sinotomy had a low recurrence rate (12.5%) and a short hospital stay (2.8 days). Sinotomy has the advantages of simplicity, the possibility of operating under local anaesthesia, with an acceptable recurrence rate. We recommend sinotomy for pilonidal sinus and abscess alike, both in primary and recurrent cases.

  7. Pilonidal sinus disease - Etiological factors, pathogenesis and clinical features

    Directory of Open Access Journals (Sweden)

    Kazim Duman

    2016-12-01

    Full Text Available and lsquo;Pilonidal sinus' disease, which is most commonly seen in reproductive populations, such as young adults - mostly in males who are in their twenties - is actually a controversial disease in that there is no consensus on its many facets. It is sometimes seen as an infected abscess draining from an opening or a lesion extending to the perineum. It may also present as a draining fistula opening to skin. In terms of etiological factors, various theories (main theories being congenital and acquired have been established since it was first described, no universal understanding achieved. A long and significant post-operative care period with different lengths of recovery depending on the type of operation are quite prevalent with regards to recurrence and complication status. In order to prevent recurrence and improve the quality of life, etiological and predisposing factors as well as clinical features of sacrococcygeal pilonidal disease should be well known, a detailed differential diagnosis should be made, and a suitable and timely intervention should be performed. It was aimed here to explain the etiological factors, pathogenesis and clinical features of the disease that may present with various clinical symptoms. [Arch Clin Exp Surg 2016; 5(4.000: 228-232

  8. Excision and primary closure of pilonidal sinus disease: worthwhile option with an acceptable recurrence rate.

    LENUS (Irish Health Repository)

    Gilani, S N S

    2012-01-31

    BACKGROUND: Treatment of pilonidal sinus disease is controversial. Many claim policy of marsupialisation and healing by secondary intention. This is demanding in terms of nursing care and time lost from work. AIMS: To examine outcome of excision and primary closure of chronic pilonidal disease on recurrence rate and patient\\'s daily activities. PATIENTS AND METHODS: One hundred and fourteen consecutive elective patients who had excision and primary closure of pilonidal sinus disease were reviewed. The demographic data and the post-operative outcome were studied. RESULTS: The recurrence of pilonidal sinus was noted in 9% of patients, wound breakdown occasioning delayed healing in 9%, patients able to drive by day 16 on average. The mean time to return to work was 20.5 days; duration of analgesia, 2.4 days; and duration of antibiotic treatment, 4.7 days. CONCLUSION: Excision and primary closure of chronic pilonidal sinus has low recurrence rate with early return to activities. Primary closure appears to be a cost-effective option for uncomplicated pilonidal sinus disease.

  9. Laying open(deroofing) and curettage under local anesthesia for pilonidal disease: An outpatient procedure

    Institute of Scientific and Technical Information of China (English)

    Pankaj; Garg; Mahak; Garg; Vikas; Gupta; Sudhir; Kumar; Mehta; Paryush; Lakhtaria

    2015-01-01

    AIM: To test the efficacy of lay open(deroofing, not excision) with curettage under local anesthesia(LOCULA) for pilonidal sinus as an outpatient procedure. METHODS: LOCULA procedure was done for all types of pilonidal disease. The primary outcome measure was cure rate. The secondary outcome measures were hospital stay, operating time, return to work, healing time and complication rate.RESULTS: Thirty-three(M/F-30/3, mean age-23.4 ± 5.8 years) consecutive patients were operated and followed for 24 mo(6-46 mo). Eleven were pilonidal abscess and 22 were chronic pilonidal disease. Six had recurrent disease. Operating time and the hospital stay was 22.3 ± 5.6 min and 63.8 ± 22.3 min respectively. The patients could resume normal work in 4.3 ± 3.2 d and the healing time was 42.9 ± 8.1 d. Thirty(93.8%)patients had complete resolution of the disease and two(6.2%) had a recurrence. Both the recurrences happened in patients who had complete healing but ignored the prescribed recommendations. One out of these got cured after getting operated again with the same procedure. Thus the overall success rate of this procedure was 96.9%.CONCLUSION: Lay open(deroofing) with curettage procedure under local anesthesia is an effective procedure to treat both simple and complicated pilonidal sinus and abscess. It is a simple procedure, has a high cure rate(up to 97%), doesn’t require admission and is associated with minimal morbidity and scarring. Considering the distinct advantages, this procedure has the potential to become the first line procedure for treating pilonidal disease.

  10. Comparing Limberg Flap Technique and Phenol Treatment Methods in Treatment of Pilonidal Disease

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    Ulas Urganci

    2016-01-01

    Full Text Available Aim: Although pilonidal disease is experienced commonly, there is no definitive algorithm. Our purpose is to contribute in determining treatment algorithm by comparing the conservative phenol treatment (PT method with limberg flap technique (LFT used frequently for pilonidal disease surgery.Material and Method: Patients diagnosed with pilonidal sinus and treated with PT and LFT between February 2011 and September 2014 in Buca Seyfi Demirsoy State Hospital General Surgery service are retrospectively enrolled in the study. Patients are contacted with the help of their files and included in the study. Patients are compared in terms of age, gender, pain-free walking and start date for going back to work, complications, success and relapse ratios. Results: 73 (81.1% of the cases were male, 17 (18.9% were female and their average age was 24±8.4(14-55. No statistically significant difference was detected between patients who have undergone LFT and PT in terms of success and relapse (p>0,05. Hospitalization period was average 1.55±0.9 days for patients who have undergone LFT. FT was applied as outpatient treatment for all patients. A statistically significant difference was determined in favor of PT as a result of comparing postoperative complications, pain-free walking and start date for going back to work (p=0,00. Discussion: In our study, we have proven that LFT, which is a method used frequently with recognized success is not superior to PT in terms of success and relapse ratios (p>0.05. On the contrary, when compared in terms of postoperative complication, pain-free walking time and start date for going back to work, we observed that PT is more advantageous than LFT (p=0,00. We consider that PT can be prefered treatment method due to its acceptable relapse ratio, low postoperative complication ratio, good postoperative patient comfort, capability of performing repeated applications and constant availability of operation option.

  11. Pilonidal dimple (image)

    Science.gov (United States)

    ... depression, leading to a sinus that may contain hair. During adolescence the pilonidal dimple or tract may become infected forming a cyst-like structure called a pilonidal cyst. These pilonidal cysts may ...

  12. Methylene Blue halves the long-term recurrence rate in acute pilonidal sinus disease

    DEFF Research Database (Denmark)

    Doll, Dietrich; Novotny, Alexander; Rothe, Ronny

    2008-01-01

    OBJECTIVE: To study the potential benefits of intraoperative methylene blue (MB) use in pilonidal sinus surgery, the correlation between long-term recurrence rate and intraoperative MB use in pilonidal sinus surgery was investigated. BACKGROUND: Explicit investigations of MB effects in sinus...

  13. S-Shaped Wide Excision with Primary Closure for Extensive Chronic Pilonidal Sinus Disease

    Directory of Open Access Journals (Sweden)

    Kerem Karaman

    2014-01-01

    Full Text Available Background. The management of complex pilonidal sinus disease (PSD with multiple pits on and beside the natal cleft is variable, contentious, and problematic. Wide excision of the sinus and reconstruction of the defect using different flap techniques have become more popular in recent years. Case Report. We report a case with a complex chronic PSD to which we applied primary closure after S-shaped wide excision. The patient’s postoperative course was uneventful, and at the end of one-year followup he is now disease-free and comes for routine checkups. Conclusion. The simplicity of the technique and the promising results support the applicability of the S-shaped wide excision in chronic bilaterally extended large PSDs. Further studies entailing large patient populations are needed to reach a definite conclusion.

  14. Pilonidal Disease

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    ... Assessment and Safety Committee Initiatives Past Presidents Healthcare Economics Committee 2017 Tripartite Meeting Search form Search Login Join Now Find a Surgeon You are here Patients / Resources / ...

  15. Pilonidal cyst on the vault: case report

    Directory of Open Access Journals (Sweden)

    BORGES GUILHERME

    1999-01-01

    Full Text Available Pilonidal cysts and sinuses are described as dermoid cysts which contain follicles of hairs and sebaceous glands. They clinically present as a classic case of inflammation which comes with pain, local infection and redness. The origin of pilonidal disease remains controverse. There are many hypothesis as lack of hygiene on the affected area and a penetration and growth of a hair in the subcutaneus tissue caused by constant friction or direct trauma on the damaged area. The option for clinical treatment is very frequent. However, taking into consideration the incidence and the possibility of recidive, surgical treatment is presently recommended. Complications include cellulitis and abscess formation. Pilonidal cysts are mostly found on the sacral region. In the literature is found description of pilonidal cysts on the penis, interdigital region on the hands as well as on the cervical region. We present a case of pilonidal cyst located on the vault biparietal region, without malignant degeneration.

  16. Pilonidal sinus carcinoma (review of the literature

    Directory of Open Access Journals (Sweden)

    Ye. V. Tsema

    2012-01-01

    Full Text Available The analytic review of the national and foreign literature about problem of malignant transformation of sacrococcygeal pilonidal cysts is presented in the article. Here we expound the subject matters of prevalence of disease, clinical presentation, diagnostics, therapeutic approach and results of treatment these patients. The main problems of diagnostics and treatment of arcinoma arising in sacrococcygeal pilonidal sinus are singled out. The basic risk factors and redisposing factors of malignant transformation of sacrococcygeal pilonidal cysts are marked. It is showed, that principle direction for improvement of results of treatment patients with arcinoma arising in pilonidal sinus is early it diagnostics by means observation of the patients which have high risk of beginning its complication.

  17. Pilonidal cyst involving the clitoris in an 8-year-old girl--a case report and literature review.

    Science.gov (United States)

    Maor-Sagie, Esther; Arbell, Dan; Prus, Diana; Israel, Eduardo; Benshushan, Avi

    2010-11-01

    Pilonidal disease is common among adolescents and adults, mainly located in the sacral area. Pilonidal disease involving the clitoris is extremely rare and has not been described in premenarcheal girls. We present a case of a recurrent pilonidal periclitoral cyst in an 8-year-old girl which was surgically treated. Copyright © 2010 Elsevier Inc. All rights reserved.

  18. Pilonidal Sinus of the Penis

    Directory of Open Access Journals (Sweden)

    Hugh F. O'Kane

    2004-01-01

    Full Text Available A pilonidal sinus is a subcutaneous sinus containing hair. It is most commonly found in the natal cleft of hirsute men. Here we describe the unusual finding of a pilonidal sinus arising on the male foreskin.

  19. Laser Hair Removal as Adjunct to Surgery for Pilonidal Sinus: Our Initial Experience

    OpenAIRE

    Wagih Mommtaz Ghnnam; Dhafer Mohmmed Hafez

    2011-01-01

    Background : Chronic pilonidal disease is a common debilitating condition. It is a cause of considerable morbidity and social embarrassment. This prospective randomized study compared permanent laser hair removal following the excision of pilonidal disease with conventional methods for hair removal. Materials and Methods : Patients undergoing surgery for pilonidal disease were randomized to two groups: those using laser hair removal methods following completed healing of wounds (group I) or r...

  20. Pilonidal sinus (Nadi vrana): A case study

    OpenAIRE

    2010-01-01

    Pilonidal sinus (PNS) occurs in the cleavage between the buttocks (natal cleft) and can cause discomfort, embarrassment and absence from work for thousands of young people (mostly men) annually. The incidence of the disease is calculated to be 26 per 100,000 people. It occurs 2.2 times more often in men than in women. Age at presentation is 21 years for men and 19 years for women this case report describes a 22-year-old man with pilonidal sinus who was treated with ksharasutra.

  1. Pilonidal sinus (Nadi vrana): A case study.

    Science.gov (United States)

    Shinde, Pradeep; Toshikhane, Hemant

    2010-07-01

    Pilonidal sinus (PNS) occurs in the cleavage between the buttocks (natal cleft) and can cause discomfort, embarrassment and absence from work for thousands of young people (mostly men) annually. The incidence of the disease is calculated to be 26 per 100,000 people. It occurs 2.2 times more often in men than in women. Age at presentation is 21 years for men and 19 years for women this case report describes a 22-year-old man with pilonidal sinus who was treated with ksharasutra.

  2. Pilonidal cyst of the clitoris.

    Science.gov (United States)

    Kanis, Margaux J; Momeni, Mazdak; Zakashansky, Konstantin

    2014-01-01

    A pilonidal cyst is an epithelialized sinus tract or cyst containing hair follicles with a surrounding inflammatory reaction. It usually develops in the sacrococcygeal region with few reports of its development in the genitalia. We present a case of a periclitoral pilonidal cyst in a young woman and its management.

  3. Fibrin sealant use in pilonidal sinus: Systematic review

    Institute of Scientific and Technical Information of China (English)

    Cuneyt Kayaalp; Ismail Ertugrul; Kerem Tolan; Fatih Sumer

    2016-01-01

    AIM: To review the current data about the success rates of fibrin sealant use in pilonidal disease.METHODS: Fibrin sealant can be used for different purposes in pilonidal sinus treatment, such as filling in the sinus tracts, covering the open wound after excision and lay-open treatment, or obliterating the subcutaneous dead space before skin closure. We searched Pubmed, Google-Scholar, Ebsco-Host, clinicaltrials, and Cochrane databases and found nine studies eligible for analysis; these studies included a total of 217 patients(84% male, mean age 24.2 ± 7.8). RESULTS: In cases where fibrin sealant was used to obliterate the subcutaneous dead space, there was no reduction in wound complication rates(9.8% vs 14.6%, P = 0.48). In cases where sealant was used to cover the laid-open area, the wound healing time and patient comfort were reported better than in previous studies(mean 17 d, 88% satisfaction). When fibrin sealant was used to fill the sinus tracts, the recurrence rate was around 20%, despite the highly selected grouping of patients.CONCLUSION: Consequently, using fibrin sealant to decrease the risk of seroma formation was determined to be an ineffective course of action. It was not advisable to fill the sinus tracts with fibrin sealant because it was not superior to other cost-effective and minimally invasive treatments. New comparative studies can be conducted to confirm the results of sealant use in covering the laid-open area.

  4. Fibrin sealant use in pilonidal sinus: Systematic review.

    Science.gov (United States)

    Kayaalp, Cuneyt; Ertugrul, Ismail; Tolan, Kerem; Sumer, Fatih

    2016-03-27

    To review the current data about the success rates of fibrin sealant use in pilonidal disease. Fibrin sealant can be used for different purposes in pilonidal sinus treatment, such as filling in the sinus tracts, covering the open wound after excision and lay-open treatment, or obliterating the subcutaneous dead space before skin closure. We searched Pubmed, Google-Scholar, Ebsco-Host, clinicaltrials, and Cochrane databases and found nine studies eligible for analysis; these studies included a total of 217 patients (84% male, mean age 24.2 ± 7.8). In cases where fibrin sealant was used to obliterate the subcutaneous dead space, there was no reduction in wound complication rates (9.8% vs 14.6%, P = 0.48). In cases where sealant was used to cover the laid-open area, the wound healing time and patient comfort were reported better than in previous studies (mean 17 d, 88% satisfaction). When fibrin sealant was used to fill the sinus tracts, the recurrence rate was around 20%, despite the highly selected grouping of patients. Consequently, using fibrin sealant to decrease the risk of seroma formation was determined to be an ineffective course of action. It was not advisable to fill the sinus tracts with fibrin sealant because it was not superior to other cost-effective and minimally invasive treatments. New comparative studies can be conducted to confirm the results of sealant use in covering the laid-open area.

  5. SURGICAL TREATMENT OF SACROCOCCYGEAL PILONIDAL SINUS WITH THE LIMBERG FLAP: REVIEW OF 81 CASES.

    Directory of Open Access Journals (Sweden)

    Doreid Oueidat

    2016-04-01

    Full Text Available Pilonidal sinus disease is a complex condition that causes both discomfort and embarrassment to sufferers. Direct cost through absence from work is high. Controversy still exists regarding the best surgical technique for its treatment in terms of minimizing disease recurrence and patient discomfort. Thus, we conducted this study to evaluate the results of rhomboid excision and Limberg flap reconstruction in the surgical treatment of pilonidal sinus disease. This prospective study included 81 patients who had pilonidal sinus and were treated by the rhomboid excision and Limberg flap. The mean follow–up was 18 months and all patients were satisfied with the procedure. There were lower complication rates, minimal discomfort, patients discharged in 2-3 days and only two recurrences. The authors recommend the Limberg Flap procedure for pilonidal sinus disease. It is effective, with short hospitalization, low recurrence rate and shorter time off work.

  6. 骶尾部藏毛窦9例临床分析%Clinical analysis of sacroiliac pilonidal sinus in nine cases

    Institute of Scientific and Technical Information of China (English)

    李延淇; 周中华; 万广捷

    2011-01-01

    Objective To improve the understanding of clinical diagnosis and treatment for sacroiliac pilonidal sinus. Methods Nine patients with sacroiliac pilonidal sinus were diagnosed by cardiografin contrast fistulography,rectal touch, sa crococcyx X-line. They were all taken operation to remove pilonidal sinus , two of them with open wide cut , two with part sutura , and five with primary suture. Results The two patients with open wide cut healed after thirty days and forty-six days respec tively. The two patients with parut sutura healed after thirty-five days and forty days respectively. Among the five patients with primary suture, one infected after five days and healed in the 35th day after sutures out and changing dressings;One was taken sutures out after 10 days because that amphi-cutting edge could not close up , and healed in the 40th day after changing dress ings ; The other three patients healed after about fifteen days post-primary suture. All patients were followed up for 0.5 ~ 6.0 years,and there was no recurrent cases. Conclusion The sacroiliac pilonidal sinus has high etiological factors. The diagnoais of the disease is easy and clear. Adopting which method depends on the number and range of the ostium and sinus, the inflam mation and the recognition of technology and so on.%目的 提高对骶尾部藏毛窦临床诊断和治疗的认识.方法 9例骶尾部藏毛窦患者,经泛影葡胺窦道造影、直肠指诊、骶尾骨X线片确诊.2例行藏毛窦切除、切口敞开术,2例行藏毛窦切除、部分缝合术,5例范围较小者采用单纯藏毛窦切除一期缝合术.结果 2例行藏毛窦切除、切口敞开术者分别于术后30、46 d愈合.2例行藏毛窦切除、部分缝合术者分别于术后35、40 d愈合.5例单纯藏毛窦切除一期缝合术者中,1例术后5 d感染,拆线后换药35 d痊愈;1例切口因切缘两端不能闭合,10 d拆线,换药后40 d愈合;另3例均于15 d左右一期拆线痊愈.随访0.5~6.0 a

  7. Unexpected location of pilonidal sinuses.

    Science.gov (United States)

    Sion-Vardy, N; Osyntsov, L; Cagnano, E; Osyntsov, A; Vardy, D; Benharroch, D

    2009-12-01

    Pilonidal sinuses usually occur in the sacrococcygeal area in young men, and occasionally can be found in other ectopic sites. We present a retrospective case review on unusual locations of pilonidal sinuses in the past 4 years. The lesion sites were as follows: one on the penis, two on the scalp, two on the abdomen, one on the neck, two in the groin and two in the axilla. Abdominal and penile lesions are uncommon, but the other locations reported are unusually rare. To our knowledge, the groin has not been reported previously as a site of a pilonidal sinus, although the histological appearance of hidradenitis suppurativa may well resemble it. When trying to clarify the pathogenesis of these occurrences, we found that recurrent hair removal was a common characteristic of the patients we contacted, and this may have been the initiating trauma.

  8. A randomized, double-blind, placebo-controlled multicenter trial evaluating topical zinc oxide for acute open wounds following pilonidal disease excision

    DEFF Research Database (Denmark)

    Agren, Magnus S; Ostenfeld, Ulla; Kallehave, Finn;

    2006-01-01

    The purpose of this randomized, double-blind, placebo-controlled multicenter trial was to compare topical zinc oxide with placebo mesh on secondary healing pilonidal wounds. Sixty-four (53 men) consecutive patients, aged 17-60 years, were centrally randomized to either treatment with 3% zinc oxide...... range 42-71 days) for the zinc and 62 days (55-82 days) for the placebo group (p = 0.32). Topical zinc oxide increased (p wound fluid zinc levels to 1,540 (1,035-2,265) microM and decreased (p wounds. Fewer zinc oxide (n = 3) than placebo...... abnormalities by histopathological examination of wound biopsies, or other harmful effects. Larger clinical trials will be required to show definitive effects of topical zinc oxide on wound healing and infection....

  9. A randomized, double-blind, placebo-controlled multicenter trial evaluating topical zinc oxide for acute open wounds following pilonidal disease excision

    DEFF Research Database (Denmark)

    Friis-Møller, Alice; Agren, MS; Ostenfeld, U;

    2006-01-01

    The purpose of this randomized, double-blind, placebo-controlled multicenter trial was to compare topical zinc oxide with placebo mesh on secondary healing pilonidal wounds. Sixty-four (53 men) consecutive patients, aged 17-60 years, were centrally randomized to either treatment with 3% zinc oxide...... range 42-71 days) for the zinc and 62 days (55-82 days) for the placebo group (p = 0.32). Topical zinc oxide increased (p zinc levels to 1,540 (1,035-2,265) microM and decreased (p zinc oxide (n = 3) than placebo......-treated patients (n = 12) were prescribed postoperative antibiotics (p = 0.005). Serum-zinc levels increased (p Zinc oxide was not associated with increased pain by the visual analog scale, cellular...

  10. KSHARASUTRA THERAPY - A MINIMAL INVASIVE PARASURGICAL METHOD IN THE TREATMENT OF SACROCOCCYGEAL PILONIDAL SINUS (NADI VRANA): RESULT OF A PILOT STUDY

    OpenAIRE

    2012-01-01

    Many treatment methods have been applied in the treatment of Sacrococcygeal Pilonidal Sinus (Nadi vrana) disease (PSD).Our observations demonstrated Efficacy of Ksharasutra therapy –A minimal invasive Para surgical method in Sacrococcygeal Pilonidal Sinus (Nadi vrana) Disease (Nadi vrana). 20 patients were treated (3 women, 17 men) with PSD by Ksharasutra therapy. All patients were treated on an outpatient basis in the minor Ksharasutra operation theater in ACRI, New Delhi. The mean age was...

  11. Laser hair removal as adjunct to surgery for pilonidal sinus: Our initial experience

    Directory of Open Access Journals (Sweden)

    Wagih Mommtaz Ghnnam

    2011-01-01

    Full Text Available Background : Chronic pilonidal disease is a common debilitating condition. It is a cause of considerable morbidity and social embarrassment. This prospective randomized study compared permanent laser hair removal following the excision of pilonidal disease with conventional methods for hair removal. Materials and Methods : Patients undergoing surgery for pilonidal disease were randomized to two groups: those using laser hair removal methods following completed healing of wounds (group I or regular post-healing conventional methods for hair removal, mainly razor and depilatory creams, for at least 6 months (group II. Group I patients received regular, monthly laser hair treatment sessions using Alexandrite laser for four sessions. Results : Group I patients had a mean age of 23.6 ± 4.7 years. Group I patients had monthly laser hair removal session and then they were regularly followed up within the proposed schedule. They found the procedure comfortable with no complications. Group II patients had a mean age of 23.7 ± 6.6 years; they reported difficulty in maintaining hair removal with these conventional methods, and mostly, by the end of the first year, all cases stopped maintaining regular hair removal. Recurrence occurred in Group II patients (two cases mostly due to failure in maintaining hair removal and area hygiene. Conclusions : We advocate the use of laser epilation after surgery for pilonidal sinus as it decreases the chance of recurrence but larger studies with long-term follow-up are still needed to approve this conclusion.

  12. A New Surgical Technique for Closure of Pilonidal Sinus Defects: Triangular Closure Technique

    Science.gov (United States)

    Mutaf, Mehmet; Temel, Metin; Koç, Mustafa Nihat

    2017-01-01

    Background We present a clinical experience with a new local flap procedure, namely the triangular closure technique, for reconstruction of sacrococcygeal skin defects resulting from excision of the pilonidal sinus. Material/Methods In this technique, the defect is surgically converted to a triangle in shape. Then, the triangular defect is closed by transposition of 2 skin flaps designed in an unequal z-plasty manner. Over 6 years, this technique has been used for closure of defects of chronic pilonidal sinus disease in 27 patients (6 females, 21 males). The size of the defect ranged between 3.5 cm and 12 cm in dimension. Results A tension-free defect closure was obtained in all patients. All flaps except one healed with no complications. A mean follow-up of 3.62±1.77 months revealed aesthetically and functionally acceptable results with the obliteration of the natal cleft in all patients. No recurrence was observed in the follow-up period. Conclusions The triangular closure technique was found to be a useful technique for the treatment of pilonidal sinus with favorable results regarding the time before return to work. PMID:28238003

  13. [Moderately differentiated squamous cell carcinoma associated pilonidal cyst].

    Science.gov (United States)

    Cruz-Mendoza, Irma; Hernández-Jesús, Bernal; López-Pérez, Eva; Flores-Cobos, Ada Elisa; García-Rodríguez, Francisco

    2014-01-01

    Antecedentes: la degeneración maligna es una complicación rara, observada principalmente en enfermedad pilonidal crónica recurrente y se asocia con muy mal pronóstico. En la bibliografía mundial se encuentra como una entidad poco frecuente. En España se revisaron 367 pacientes afectados de quiste pilonidal, simple o complicado. Entre ellos se encontraron tres casos (0.81%) de carcinoma epidermoide con quiste pilonidal. Caso clínico: paciente masculino de 60 años de edad, con cuadro clínico de 50 años de evolución de un tumor sacro. Luego de la exéresis el reporte histopatológico fue de quiste pilonidal; la evolución fue tórpida en la cicatrización, con bordes necróticos que se resecaron y el reporte fue: carcinoma epidermoide. Conclusión: el carcinoma epidermoide de sinus pilonidal es una enfermedad infrecuente asociada con muy mal pronóstico.

  14. A CASE DISCUSSION ON PILONIDAL SINUS: CASE REPORT

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    Hiremath Sangamesh

    2012-10-01

    Full Text Available A pilonidal sinus is an acquired condition seen more in males than females, as males have more hairs, the buttocks moves and hairs breaks off by friction and collect in the cleft which makes local inflammation turns to sinus formation. The commonly used surgical technique for this disorder includes excision, primary closure and excision with reconstructive flap. However patients require longer hospitalization, the risk of reoccurrence, and infection of wound after operation is high and expensive. We can see the similarity between shalyaja nadivrana described in Sushruta Samhita and pilonidal sinus. Sushruta advised many para-surgical techniques viz – kshara sutra for nadi vrana hence kshara sutra therapy was tried in a case of pilonidal sinus. Kshara sutra treatment not only minimizes complications and reoccurrences but also facilitates the patient to resume early working with less discomfort as well as reduced time and cost.

  15. Introduction of a Semi-Closure Surgery Technique for Treatment of Sacral Pilonidal Sinus

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    M Moosavi - Naeini

    2004-04-01

    Full Text Available Introduction : Pilonidal cysts occur predominantly in males. The lesion usually manifests itself clinically near the end of the second decade of life. The patients are often hirsute and frequently unaware of the presence of the sinus.Clinically, the lesion is asymptomatic until it becomes infected. The diagnosis is made on the basis of one or more small openings in the midline over the sacrococcygeal region approximately 3.5 to 5 cm posterior to the anal orifice. Infection may occur because of its proximity to the anal region. The symptoms of an abscess are classic. Trauma preceding the onset of symptoms has been reported. As this disease is seen in the young and active population and has a high prevalence, need for a surgical operation with decreased complications& duration of admission leading to faster return of the patient to daily life activities is felt. Methods& materials :In this sinple blind randomized clinical trial study, 60 young patients ( mean age of 21.9+/-3.09 years who refered to the surgical clinics of Baqiyatallah hospital and diagnosed as having pilonidal cysts requiring treatment were divided into two groups of 30 cases each, wherein Group One patients were operated upon using this new semi-closure technique and Group Two patients were operated upon using the classic open method. The patients were followed up till complete treatment and results were compared. Results :The effectiveness and advantages of semi closed method over the open method (p< 0.05 was observed.( post operative pain & bleeding , wound healing , change of dressing,time period of return to work and complete treatment. Conclusion : It is concluded that the semi closure excision method is better than the open method in all aspects for the treatment of pilonidal sinus.

  16. Squamous cell carcinoma and pilonidal cyst disease.

    Science.gov (United States)

    Esposito, Francesco; Lauro, Mario; Tirone, Lucio Pasquale; Festa, Rosa Maria; Peluso, Gaia; Mazzoni, Giada; Scognamiglio, Marco; Grimaldi, Simona; Fresini, Antonio

    2015-02-20

    Il carcinoma a cellule squamose insorgente su malattia del seno pilonidale è una patologia abbastanza rara che sopraggiunge in presenza di malattia con decorso decennale. È caratterizzato da una crescita lenta ma da un’elevata invasività locale. Gli autori riportano il caso di un paziente di 63 anni con storia pluridecennale di malattia del seno pilonidale con ascessualizzazioni ricorrenti trattato chirurgicamente con resezione ampia e ricostruzione mediante uso di lembi. A distanza di 30 mesi non sono state osservate complicanze o recidive locali.

  17. Development of an evidence-based protocol for care of pilonidal sinus wounds healing by secondary intent using a modified Reactive Delphi procedure. Part 2: methodology, analysis and results.

    Science.gov (United States)

    Harris, Connie L; Holloway, Samantha

    2012-04-01

    This is the second part of the article based on the thesis work for a Masters of Science in Wound Healing and Tissue Repair, Cardiff University, to develop an evidence-based protocol for the care of pilonidal sinus wounds (PSWs) healing by secondary intent, using a modified Reactive Delphi process. The sample included surgeons, clinic physicians, nurses and enterostomal therapy nurses experienced in the care of these wounds. Item generation involved an extensive review of the literature to identify key aspects of evidence-based wound care essential to wound healing, infected wounds and pilonidal wounds healing by secondary intent and drawing on clinical experience. The participants responded via an electronic Delphi website, using a 4-point Likert rating scale and a ranking system. Comments were invited. Feedback was provided to the participants at the end of each round, that included comments, consensus scores, content validity index and additional information that provided rationale and references, or minor revision if requested. This project successfully achieved the objectives, which were to identify the areas of care that negatively or positively influences healing of postoperative PSWs and to inform, educate and broaden the considerations regarding these factors for health care professionals.

  18. Pilonidal Sinus of the Glans Penis Associated with Actinomyces Case Reports and Review of Literature

    Directory of Open Access Journals (Sweden)

    Shylashree Chikkamuniyappa

    2004-01-01

    Full Text Available Pilonidal sinus is a well-recognized condition that occurs most commonly in the sacrococcygeal area of younger men. It is hypothesized to be an acquired chronic inflammation condition due mainly to hair trapped beneath the surface. A pilonidal sinus in the sacrococcygeal region is associated with recurrent infection, abscess formation, cellulitis, fistulae, and rarely, squamous cell carcinoma. A pilonidal sinus of the penis is a rare entity. The association of a penile pilonidal cyst and Actinomyces is even more uncommon with only three cases reported previously. Two cases of pilonidal sinus are reported in this paper. One of the cases was associated with actinomycosis. Pilonidal sinus of the penis should be considered in the clinical and pathological differential diagnosis and has to be distinguished from balanoposthitis, epidermal cyst, and carcinoma. The knowledge about possible association with actinomycosis is important to ensure early treatment.

  19. Treatment of pilonidal sinuses in Denmark is not optimal

    DEFF Research Database (Denmark)

    Fabricius, Rasmus; Petersen, Linda Wiuff; Bertelsen, Claus Anders

    2010-01-01

    The standard treatments of chronic pilonidal sinuses (PS) were previously wide excision with primary midline closure or open treatment by non-specialist surgeons resulting in high rates of unhealed wounds and recurrences. An evidence-based shift from the now obsolete midline procedures towards off...

  20. Effects of methylene-blue staining on the extent of pilonidal sinus excision.

    Science.gov (United States)

    Ardelt, M; Kocijan, R; Dittmar, Y; Fahrner, R; Rauchfuss, F; Scheuerlein, H; Settmacher, U

    2016-06-01

    We aimed to examine the effects of methylene-blue staining (MBS) on the volume of specimens after excision of pilonidal sinuses. This was a retrospective analysis of 135 excised specimens after pilonidal sinus (PS) surgery. All patients underwent procedures at the Department of Surgery of University Hospital Jena between 2000 and 2010. All specimens were measured in three dimensions. To calculate the volumes of excised specimens, we used a model of a hemi-ellipsoid. Demographic information (age, height, weight, body mass index, smoking status) were also obtained for all patients. Excised specimens with MBS had significantly larger volumes (pmethylene blue (MB). In addition, the volume was larger in subjects with a recurrent PS (p=0.021), which was predominantly the case in female subjects (p=0.025). These data suggest that excised specimens with MBS had significantly larger volumes of the excised specimen compared with specimens that were not stained with MB. MBS of a fistula system could enable such a system to be marked sufficiently, thereby facilitating complete resection of a PS.

  1. KSHARASUTRA THERAPY - A MINIMAL INVASIVE PARASURGICAL METHOD IN THE TREATMENT OF SACROCOCCYGEAL PILONIDAL SINUS (NADI VRANA: RESULT OF A PILOT STUDY

    Directory of Open Access Journals (Sweden)

    Panigrahi Hemanta

    2012-10-01

    Full Text Available Many treatment methods have been applied in the treatment of Sacrococcygeal Pilonidal Sinus (Nadi vrana disease (PSD.Our observations demonstrated Efficacy of Ksharasutra therapy –A minimal invasive Para surgical method in Sacrococcygeal Pilonidal Sinus (Nadi vrana Disease (Nadi vrana. 20 patients were treated (3 women, 17 men with PSD by Ksharasutra therapy. All patients were treated on an outpatient basis in the minor Ksharasutra operation theater in ACRI, New Delhi. The mean age was 27 years (18–60. The median length of symptoms was seven months. In the 1 year of mean follow-up period, the disease recurred in 2 patients. This treatment procedure was well-tolerated by all the patients. Time off work was on average one day with an MSD1.75 and SD 0.766485. No patient had skin necrosis or any other complications during the therapy. Recurrence of the disease in two patients was found. Mean Time required for wound healing in week was 10.8 with SD 2.501999. 1(5% patient had wound infection. It is possible to treat patients in a shorter time with a considerably smaller loss of working time, since the destruction of peripilonidal adipose tissue and skin is less and reoccurrence of the disease is also less, therefore, the use of Ksharasutra therapy in Sacrococcygeal Pilonidal Sinus (Nadi vrana is an option to be considered in the treatment of PSD.

  2. Pilonidal cyst involving the clitoris: a case report.

    Science.gov (United States)

    Baker, Teresa; Barclay, David; Ballard, Carrie

    2008-04-01

    A periclitoral pilonidal cyst or sinus is an exceedingly infrequent occurrence. Diagnostic criteria consist of a sinus tract or cyst containing hair follicles and inflammatory reaction in one or more partially or completely epithelialized sinus tracts. Follow-up of patients reported in the literature has been too short to provide a consensus in regard to the extent of surgery required to provide permanent cure. A 30-year-old patient was seen in consultation for evaluation of a chronic, draining periclitoral abscess that had been treated for approximately 2 years with multiple rounds of antibiotics and local incisions. Treatment consisted of a wide local excision of the cyst and multiple sinuses extending into the periclitoral area and labia minora. The shaft and glans of the clitoris were preserved. Primary closure and healing were accomplished. Diagnosis and curative therapy of a pilonidal cyst of the clitoris require a thorough resection which can be accomplished with preservation of the clitoris.

  3. A comparative study of open technique and Z-plasty in management of pilonidal sinus

    Directory of Open Access Journals (Sweden)

    Siddhartha Priyadarshi

    2014-01-01

    Full Text Available Introduction: Pilonidal sinus is one of the common problems encountered in general surgical practices and the management of this disease is variable, contentious and problematic. Principles of treatment require eradication of the sinus tract; complete healing and prevention of recurrence. Although several surgical techniques have been described over the years, the management remains controversial. Aims and Objectives: The aim of this study was to compare the two techniques of the open method and Z-plasty in the management of pilonidal sinus, in terms of incidence of post-operative pain, total hospital stay, total recovery time, complications and recurrence rate. Materials and Methods: This is a prospective comparative study which was conducted in the surgical department of a teaching hospital. A total of 50 cases were included in this study. Of these, 25 cases were operated by the open technique and 25 by excision and Z-plasty. Observation and Result: The mean age at presentation was 29.44 years. Male genders followed by age between 20 and 30 years were the most common predisposing factors. The mean body mass index, early and late post-operative complications were comparable between the two groups. Mean hospital stay and total recovery time was significantly more in open technique group compared with Z-plasty group. Visual analog score was also significantly more in open technique group when compared with Z-plasty group. Conclusion: Excision with Z-plasty was better technique in terms of lesser hospital stay, lesser recovery time, less post-operative pain.

  4. Pilonidal sinus: healing rates, pain and embarrassment levels.

    Science.gov (United States)

    Stewart, A; Donoghue, J; Mitten-Lewis, S

    2008-11-01

    To identify the healing rates, wound hygiene practices, types of primary wound dressings used, antibiotics prescribed, pain intensity and embarrassment levels in patients with pilonidal sinus. A prospective descriptive design was used. We followed 55 patients for three months following excision of pilonidal sinus. Digital photographs were taken and the wound area was calculated using the Alfred and Medseed Wound Imaging System on the first postoperative day, at 2-3 weeks and again at 12 weeks. Data were collected from the nurses and patients using piloted questionnaires. Sixty per cent of the participants had closed wounds within 12 weeks of surgery. Various dressing types were used. There was no significant correlation between dressing type and healing, or wound size and healing. There was no significant association between antibiotic usage and faster healing rates. A mean pain intensity score of 4.8 on a 0-10 scale was reported at the first dressing change for saline gauze dressings, which was the most painful experience with this wound. Average levels of embarrassment were low and decreased over time. Forty per cent of participants who had unhealed wounds at 12 weeks had other factors involved, which were not measured in this study.

  5. [Presacral tumor as a differential diagnosis of recurrent pilonidal sinus].

    Science.gov (United States)

    Mengual-Ballester, Mónica; Pellicer-Franco, Enrique; Valero-Navarro, Graciela; Alcaraz-Mateos, Eduardo; Soria-Aledo, Victoriano; Aguayo-Albasini, José Luis

    2014-01-01

    Antecedentes: durante el desarrollo embriológico, el espacio retrorrectal o presacro está ocupado por células pluripotenciales y, por tanto, puede contener un grupo heterogéneo de tumores. Caso clínico: se comunica el caso de un paciente masculino de 22 años de edad, intervenido de sinus pilonidal recidivado. Con estudios de tomografía computada de pelvis y resonancia magnética nuclear se sospechó la existencia de un tumor quístico presacro compatible con tumor germinal; la lesión se extirpó quirúrgicamente por vía abdominal y se estableció el diagnóstico definitivo de teratoma quístico. Conclusiones: los tumores retrorrectales son lesiones poco habituales que es necesario descartar en caso de sinus recidivantes.

  6. Cisto pilonidal sacrococcígeo: resultados do tratamento cirúrgico com incisão e curetagem Pilonidal sinus: surgical treatment results with incision and curettage

    Directory of Open Access Journals (Sweden)

    Flávia Balsamo

    2009-09-01

    Full Text Available duzentos e treze doentes com cisto pilonidal sacrococcígeo foram submetidos a tratamento cirúrgico pela técnica de incisão e curetagem, no período de janeiro de 1997 a dezembro de 2006. Foram avaliados o sexo, a idade o tipo de anestesia, o tempo de internação, período de cicatrização, complicações e seguimento. Conclui-se que a técnica de incisão e curetagemé uma boa opção no tratamento cirúrgico do cisto pilonidal sacrococcígeo, proporcionando tempo aceitável de cicatrização e baixos índices de recidiva.From January 1997 to December 2006, 213 patients with pilonidal sinus have undergone on surgical treatment with incision and curettage technique. We analyzed age, sex, the anesthetic and surgical procedures, recovery as well as healing time and follow up. We have concluded that incision and curettage in surgical treatment of pilonidal sinus is a good option, with quick recovery and an acceptable healing time.

  7. Use of lasers for the management of refractory cases of hidradenitis suppurativa and pilonidal sinus

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    Vivek Jain

    2012-01-01

    Full Text Available Background: Hidradinitis suppurativa (HS and pilonidal sinus (PNS are chronic inflamatory skin diseases, often refractory to treatment and search for a new treatment is on. We tried deroofing with the help of carbon dioxide laser in patients of HS and PNS, however there was recurrence. Aim: To evaluate a technique combining the use of CO 2 laser and long pulse 1064 nm Neodymium-doped Yttrium Aluminium Garnet (Nd:YAG laser for the treatment of HS and PNS. Materials and Methods: In 4 patients with HS and 5 patients with PNS, we performed procedure in two steps: first destroying the hair follicles with long pulse Nd yag 1064 laserfollowed by deroofing with carbon di oxide laser. Follow up was done upto 3 years. Results: All patients with HS were females in the age group of 30-40 years. In PNS, 2 male patients were of age less than 20, two male patients of age more than 20 and one females of age less than 20. None of the HS or PNS patients showed recurrence. Conclusion: The deroofing with CO 2 laser along with hair follicle removal with long pulse Nd:YAG laser is an effective minimally invasive tissue saving surgical intervention for the treatment of refractory HS and PNS lesions.

  8. Does closure of chronic pilonidal sinus still remain a matter of debate after bilateral rotation flap? (N-shaped closure technique

    Directory of Open Access Journals (Sweden)

    Awad Mohamed

    2006-01-01

    Full Text Available Background: Controversy still exists about the exact cause of pilonidal sinus either acquired or congenital, and also about what is the best surgical technique for the treatment of the disease. We successfully treated chronic pilonidal sinus with a new flap technique {N-shaped bilateral rotation flap} for closure of the defect. Materials and Methods: Thirty-two patients (30 men and two women were treated by eccentric elliptical excision of the diseased tissues down to the postsacral fascia and closure of the defect with our flap [which is a random pattern flap], then a closed suction drain was placed at the base of the wound, with its tip being brought out in the gluteal region at least 5 cm lateral to the lower end of the suture line. Results: All our patients healed completely without recurrence during a period of average follow-up of two years. Mean hospital stay was 1.5 days (range 1-5 days. Mean time to complete healing was 11.9 days (range 6-18 days. Mean time off work was 13.7 days (range 10-21 days. Two patients had wound infection and one patient a partial breakdown. The recurrence rate was 0%. Conclusions: A tension-free suture via bilateral rotation flaps with a good suction at the button of the wound for drainage of blood from the bottom of the wound is the key to the success of repair without recurrence.

  9. Secondary Healing versus Delayed Excision and Direct Closure after Incision and Drainage of Acute Pilonidal Abscess: A Controlled Randomized Trial

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    Mahmoud F. Sakr

    2012-02-01

    Conclusions: Although there is more rapid healing and fewer visits for dressing with I and D and DE/DC of an acute pilonidal abscess, this is accompanied by a significantly higher overall complication rate than with I and D and secondary healing. Recurrence of an acute abscess or development of a chronic pilonidal sinus is similar with both procedures. [Arch Clin Exp Surg 2012; 1(1.000: 8-13

  10. Management of pilonidal sinus by Kshar Sutra, a minimally invasive treatment

    OpenAIRE

    2010-01-01

    A Pilonidal sinus (PNS) occurs in the cleavage between the buttocks (natal cleft) and can cause discomfort, embarrassment and absence from work. It is more common in men (as they have more hair) than in women. The most commonly used surgical techniques for this disorder include excision and primary closure and excision with reconstructive flap. However, the risk of recurrence or of developing an infection of the wound after the operation is high. Also, the patient requires longer hospitalizat...

  11. Taila Dāha (Cauterization with Oil an innovative approach in pilonidal sinus

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    Rabinarayan Tripathy

    2016-01-01

    Full Text Available Pilonidal sinus is a chronic inflammatory track in mid gluteal cleft usually associated with hairs with an incidence rate of twenty six per one lakh population. It is more prevalently seen in the natal cleft of hairy middle aged obese, males. Such type of non-healing tracts may be considered as Nāḍivraṇa (Sinuses and can either be treated by the conventional Kṣārasūtra (medicated seton therapy or contemporary treatment methods. Irrespective of whatsoever management protocol adopted, it inevitably needs long term hospitalisation and is associated with complications. A case of a 28 year old male patient, presenting with pain (within tolerable limits in the natal cleft and frequent occurrence of a pustule which burst out spontaneously on and off, diagnosed as pilonidal sinus (nāḍi vraṇa was treated with excision of tract and Tailadāha (thermal cauterization with hot oil with a combination of yaṣṭimadhu taila and powdered Copper Sulphate (CuSO4. Good haemostasis and uneventful wound healing with a minimally invasive and cost effective treatment was the outcome of study. This study represents an innovative treatment modality in pilonidal sinus.

  12. Management of pilonidal sinus by Kshar Sutra, a minimally invasive treatment.

    Science.gov (United States)

    Dwivedi, Amar P

    2010-04-01

    A Pilonidal sinus (PNS) occurs in the cleavage between the buttocks (natal cleft) and can cause discomfort, embarrassment and absence from work. It is more common in men (as they have more hair) than in women. The most commonly used surgical techniques for this disorder include excision and primary closure and excision with reconstructive flap. However, the risk of recurrence or of developing an infection of the wound after the operation is high. Also, the patient requires longer hospitalization, and the procedure is expensive. There is a similarity between Shalyaj Nadi Vran described in Sushruta Samhita and Pilonidal sinus. Sushruta has advocated a minimally invasive para-surgical treatment, viz., Kshar Sutra procedure, for nadi vran. Hence this therapy was tried in Pilonidal sinus, and is described in this case report. Kshar Sutra treatment not only minimizes complications and recurrence but also enables the patient to resume work quicker and with less discomfort, impact upon body image and self-esteem as well as reduced cost.

  13. Obesidad e hirsutismo como factores predisponentes de la enfermedad pilonidal sacrococcígea

    OpenAIRE

    BANNURA C,GUILLERMO; CUMSILLE G,MIGUEL A; CONTRERAS P,JAIME; BARRERA E,ALEJANDRO; Soto C,Daniel; MELO L,CARLOS; ZÚÑIGA T,CLAUDIO

    2007-01-01

    Antecedentes: La enfermedad pilonidal sacrococcígea (EPSC) se ha asociado con la obesidad y el hirsutismo. El objetivo de este estudio es investigar la relevancia de estas dos características como factores de riesgo de una EPSC. Material y Método: Estudio prospectivo que incluye todos los pacientes intervenidos por una EPSC en forma consecutiva en forma electiva. Se usó el índice de masa corporal (IMC) para medir el grado de obesidad y se comparó el IMC, la morbilidad y la recidiva con un gru...

  14. DayAND#8211;Care Surgery for Pilonidal Sinus Using Sinotomy Technique and Fibrin Glue Injection

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    Selim Sozen

    2012-06-01

    Conclusion: An ideal surgical procedure for a pilonidal sinus should be one aiming at reducing hospital stay, minimizing tissue assault, promoting early work resumption, and preventing recurrence. The method described in this paper was found to be simple, safe, and feasible as day-care surgery. The technique of sinotomy with a good wound and surrounding skin care is an ideal approach with a high chance of cure. The patients returned to their routine within a short duration of time. [Arch Clin Exp Surg 2012; 1(3.000: 138-141

  15. A simple novel technique for closure of simple and complex pilonidal sinus with either simple (tongue-shaped or bilobed rotation flap

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    Awad Mohamed

    2007-01-01

    Full Text Available Background: Pilonidal sinus is a common disease in young adults that carries high postoperative morbidity and patients′ discomfort; controversy still exists regarding the best surgical technique for the treatment of the disease. We successfully treat it with a rotation flap technique (simple rotation and bilobed rotation flap. Materials and Methods: Sixty-two patients were randomized to receive surgical treatment in the form of either simple rotation or bilobed rotation flap by eccentric elliptical excision of the diseased tissues down to the sacral fascia and closure of the defect with the flap, then placing a closed suction drain at the base of the wound, with its tip being brought out in the gluteal region at least 5 cm laterally to the lower end of the suture. Results: All our patients healed completely without recurrence after a mean follow-up of about one year. Mean hospital stay 1.5 days (range 1-3 Mean time to complete healing 11.9 days (range 8-14. Mean time off work was 11.5 days (range 10-21, wound infection and breakdown, three (4.8%, recurrence (0%, and time to sitting on the toilet and walking without pain was 10-15 days. Conclusions: A tension-free suture and cleft left via the rotation flap, either the bilobed flap or monolobed, is the key to success without recurrence and low patient discomfort.

  16. Surgical management of pilonidal sinus patients by primary and secondary repair methods: a comparative study

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    Haji Barati B

    2010-12-01

    Full Text Available "n Normal 0 false false false EN-US X-NONE AR-SA MicrosoftInternetExplorer4 /* Style Definitions */ table.MsoNormalTable {mso-style-name:"Table Normal"; mso-tstyle-rowband-size:0; mso-tstyle-colband-size:0; mso-style-noshow:yes; mso-style-priority:99; mso-style-qformat:yes; mso-style-parent:""; mso-padding-alt:0in 5.4pt 0in 5.4pt; mso-para-margin:0in; mso-para-margin-bottom:.0001pt; mso-pagination:widow-orphan; font-size:11.0pt; font-family:"Calibri","sans-serif"; mso-ascii-font-family:Calibri; mso-ascii-theme-font:minor-latin; mso-fareast-font-family:"Times New Roman"; mso-fareast-theme-font:minor-fareast; mso-hansi-font-family:Calibri; mso-hansi-theme-font:minor-latin; mso-bidi-font-family:Arial; mso-bidi-theme-font:minor-bidi;} Background: Gross difference in return to work exists in pilonidal sinus patients operated by primary and secondary repair. This survey was to evaluate the results of surgical management of pilonidal sinus with primary or secondary closure."n"nMethods: In a randomized clinical trial, patients with pilonidal sinus referring to the surgical clinic of Shariati Hospital in Tehran, Iran between March 2007 and March 2009 were underwent either excision with midline closure (primary, n=40, or excision without closure (secondary, n=40. The recorded outcomes were hospital stay, healing time, time off work, postoperative pain, patient's satisfaction and the recurrence rate."n"nResults: Majority of the patients were male (87.50%. There was no significant difference in the hospital stay. Time off work (8.65±1.73 Vs. 11.53±2.33 days, p=0.001 and healing time (3.43±0.92 Vs. 5.3±0.79 days, p=0.001 were shorter in primary group; but, there were no significant differences in hospital stay and number of visits. Intensity of postoperative pain in the 1st (37.75±6.5 Vs. 43.63±5.06, p=0.001, 2nd (26.75±6.66 Vs. 34.63±5.48, p=0.001, 3rd (18.25±6.05 Vs. 27.88±6.88, p=0.001, and 7th (8.45±3.85 Vs. 17.88±6.19, p=0.001 days were

  17. Pilonidal Cyst

    Science.gov (United States)

    ... be at slightly increased risk of developing a type of skin cancer called squamous cell carcinoma. You're likely to start by seeing your primary care doctor. In some cases when you call to set up an appointment, you may be referred immediately to ...

  18. Effective conservative treatment of umbilical pilonidal sinus disease: Silver nitrate? Salt?

    Science.gov (United States)

    Sözen, Selim; Kanat, Burhan Hakan; Kanat, Zekiye; Bali, Ilhan; Polat, Yilmaz

    2015-01-01

    Lo scopo di questo studio è stato quello di paragonare tre differenti metodi di trattamento del sinus pilonidalis ombelicale e valutare l’efficacia degli effetti terapeutici del sale comune. Si tratta di uno studio retrospettivo che ha coinvolto pazienti trattati nella nostra clinica per sinus pilonidalis dell’ombelico nel periodo dal gennaio 2010 al dicembre 2011. I pazienti sono stati suddivisi in tre sottogruppi secondo i medoti del trattamento adottato. Gruppo I: pazienti trattati con soltanto lo sbrigliamento locale ed antibiotici per via sistemica. Gruppo II: pazienti trattati con sbrigliamento locale, antibiotici per via sistemica e AgNO3 Gruppo III: pazienti trattati con sbrigliamento locale, antibiotici per via sistemica e NaCl. Sono stati trattati complessivamente 63 pazienti: del Gruppo I ne hanno fatto parte 20 pazienti; del Gruppo II 18 pazienti e del Gruppo III 18 pazienti. Durante il follow-up di 16-24 mesi si sono avute 4 recidive (20%) nel primo gruppo; 2 recidive (11,1%) nel secondo gruppo, mentre nel gruppo 3 si è avuta una solo recidiva (5,55%). L’intervallo medio per la ripresa delle attività quotidiane è stata di 1 giorno per tutti i pazienti. Si può concludere che il sinus pilonisalis ombelicale, se non complicato da suppurazione o infiltrazione, può essere trattato con l’asportazione dei peli ombelicali, sbrigliamento e semplice medicazione senza far ricorso alla chirurgia. L’applicazione del sale da cucina nei casi con granuloma è un metodo semplice e molto efficace di trattamento, senza recidive nè complicazioni.

  19. Less is more: "incision and curettage" as an optimal procedure for recurrent pilonidal disease.

    Science.gov (United States)

    Demir, Uygar; Yazici, Pinar; Bostanci, Ozgur; Kaya, Cemal; Isil, Riza Gurhan; T Mihmanli, Mehme

    2015-01-01

    Sebbene il sinus pilonidalis sia una patologia ben conosciuta da più di un secolo, la recidiva dopo trattamento non è per questo diventata rara, ed è in discussione quale sia il miglior trattamento chirurgico in tali casi. Con il presente studio si è cercato di valutare l’efficacia di un trattamento caratterizzato da incisione e curettage. Tra maggio 2009 e maggio 2013 abbiamo sottoposto a trattamento chirurgico 42 pazienti (37 uomini e 5 donne) ad un trattamento chirurgico per sinus pilonidalis recidivo. In tutti i casi è stata eseguita un’incisione chirurgica ed il curettage del tessuto di granulazione, con asportazione dei peli e dei detriti. La documentazione comprende i dati demografici, il punteggio secondo la scala analogica visiva (VAS), la durata della degenza ospedialiera, il ritorno alle attività quotidiane (decubito e stazione seduta normale), il ritorno al lavoro ed il tempo totale di guarigione della ferita. La durata media dell’intervento è stata di 16.6±4.7 minuti (da 10 a 24). Il punteggio medio del dolore è stato di 1.4±1.1 (compreso tra 0 e 5) calcolato con VAS. Il tempo medio per il ritorno alle attività quotidiane come il decubito normale, la stazione seduta ed il ritorno al lavoro è stato rispettivamente di 1.6±0.8 giorni (tra 1 e 4), di 3.3±2.3 giorni (tra 1 e15) e di 10.2±5.4 giorni (tra 5 e 33). Il tempo medio di guarigione della ferita è stato di 19.9±7.8 giorni (tra 7 e 52). Durante i successivi tre anni di follow-up non è stata osservata alcuna recidiva. L’incisione e il curettage può essere utilizzato come trattamento di prima istanza in caso di sinus pilonidalis ricorrente. Non richiede una particolare abilità chirurgica è può essere realizzato in tempi brevi. Questa semplice opzione chirurgica consente una degenza breve, un rapido ritorno alle attività quotidiane, oltre al gradimento ed alla soddisfazione dei pazienti.

  20. Tension-free primary closure for the treatment of pilonidal disease.

    Science.gov (United States)

    Arer, Ilker Murat; Yabanoglu, Hakan; Caliskan, Kenan

    2015-01-01

    Il sinus pilonidali (SP) è una patologia comune che colpisce in genere la popolazione giovane e localizzandosi nella regione intergflutea. Per la sua cura sono state utilizzate tecniche conservative e descritte diverse tecniche chirurgiche, queste ultime consistenti in chiusura primaria dell’escissione chirurgica, la marsupializzazione e le chiusura con flap della breccia chirurgica. Il presente studio si propone di valutare l’efficacia di un metodo chirurgico. La casistica si riferisce a 151 pazienti sottoposti a trattamento chirurgico tra Gennaio 2007 e Settembre 2014, che vengono suddivisi per età, sesso, durata dell’intervento e della degenza postoperatoria, oltre alle complicanze (deiscenze ed infezioni della ferita), recidive e domensioni pel pezzo operatorio. L’età media dei pazienti affetti da sinus pilonidalis si aggira tra i 14 ed i 66 anni (media 25,18). In 105 pazienti (69,5% del totale) si è proceduto a chiusura primaria della ferita, ed il 46 (30,5% del totale) si è adottata la tecnica tension-free. Non si sono osservate differenze statistiche tra i gruppi rispetto all’età, al sesso, alla durata dell’intervento ed a quella della degenza postoperatoria. Solo 9 pazienti operati con chiusura primaria (8,6%) e 3 pazienti (6,5%) operati con tecnica tension-free hanno presentato una recidiva postoperatoria. In 17 pazienti (7,9%) si è osservata la deiscenza della ferita, di cui 15 (14,3%) tra quelli trattati con chiusura primitive e 2 (4,3%) in quelli trattati con tecnica tension- free. Il 16 pazienti (10.6%) è stata osservata la formazione postoperatoria di sieroma o di infezione. In conclusione la tecnica tension free si dimostra metodo altrettanto efficace della chiusura primitiva.

  1. Tratamento cirúrgico da doença pilonidal: meta-análise dos principais procedimentos adotados mundialmente

    Directory of Open Access Journals (Sweden)

    Victor Strassmann

    Full Text Available OBJETIVO: Analisar e comparar os diversos procedimentos cirúrgicos descritos para o tratamento da doença pilonidal. MÉTODO: Foram selecionados 34 trabalhos publicados em revistas indexadas, totalizando 8698 doentes operados. Realizou-se meta-análise para comparação das sete principais técnicas cirúrgicas descritas na literatura, quanto aos resultados em relação à recidiva e ao tempo de cicatrização no pós-operatório. RESULTADOS: Do total de doentes estudados, houve recidiva em 230 doentes (2,6%. O tempo de cicatrização no pós-operatório foi significantemente maior no grupo de excisão sem sutura. As recidivas foram estatisticamente semelhantes nos métodos: excisão sem sutura, marsupialização, incisão e curetagem, excisão e retalho e técnica de Karidakys. Os métodos que apresentaram maior índice de recidiva (estatisticamente significante - p<0,001 foram: excisão e sutura primária e o método de Bascom. CONCLUSÕES: Conclui-se, por esse estudo, que os resultados em relação à recidiva são estatisticamente semelhantes em todos os métodos, com exceção da excisão e sutura primária e da técnica de Bascom, que apresentaram recidivas mais freqüentes. O tempo de cicatrização foi maior nos indivíduos operados pela técnica de excisão sem sutura primária.

  2. Clinic Analysis of Behcet Disease

    Institute of Scientific and Technical Information of China (English)

    Jingjun Lin; Hongni Li; Yixia Huang; Kangkeng Zheng; Zhongxia Zhou; Xiaofeng Lin

    2004-01-01

    Purpose: To analyze the clinic manifestation and prognosis of Behcet disease.Method: Twenty patients requiring inpatient treatment with Behcet disease were retrospectively analyzed.Results: The morbidity of Behcet disease is 5.5/100 000. In the systemic damage, stomatocace and skin lesion are 95%, eye lesion and genital ulcer 50%, joint lesion 45%,gastrointestinal lesion 35%, Uveitis is the major disease in eye lesion, and followed in order by retinal vasculitis and obstruction of retinal artery. Attack age average 30.3 years old. Diagnosis age average 34.8 years old. The patients stay in hospital for 41 days on the average. Cure rate is 55%, improvement rate 40%, blinding rate of eye lesion is 36%.Conclusions: Behcet disease is a multisystem lesion disease. Stomatocace and skin lesion is the major lesion, the next in common occurrence are eye and genital lesions. Repeated attack of uveitis, complicated cataract and secondary glaucoma are the major causes of blindness.

  3. Network Analysis Identifies Disease-Specific Pathways for Parkinson's Disease.

    Science.gov (United States)

    Monti, Chiara; Colugnat, Ilaria; Lopiano, Leonardo; Chiò, Adriano; Alberio, Tiziana

    2016-12-21

    Neurodegenerative diseases are characterized by the progressive loss of specific neurons in selected regions of the central nervous system. The main clinical manifestation (movement disorders, cognitive impairment, and/or psychiatric disturbances) depends on the neuron population being primarily affected. Parkinson's disease is a common movement disorder, whose etiology remains mostly unknown. Progressive loss of dopaminergic neurons in the substantia nigra causes an impairment of the motor control. Some of the pathogenetic mechanisms causing the progressive deterioration of these neurons are not specific for Parkinson's disease but are shared by other neurodegenerative diseases, like Alzheimer's disease and amyotrophic lateral sclerosis. Here, we performed a meta-analysis of the literature of all the quantitative proteomic investigations of neuronal alterations in different models of Parkinson's disease, Alzheimer's disease, and amyotrophic lateral sclerosis to distinguish between general and Parkinson's disease-specific pattern of neurodegeneration. Then, we merged proteomics data with genetics information from the DisGeNET database. The comparison of gene and protein information allowed us to identify 25 proteins involved uniquely in Parkinson's disease and we verified the alteration of one of them, i.e., transaldolase 1 (TALDO1), in the substantia nigra of 5 patients. By using open-source bioinformatics tools, we identified the biological processes specifically affected in Parkinson's disease, i.e., proteolysis, mitochondrion organization, and mitophagy. Eventually, we highlighted four cellular component complexes mostly involved in the pathogenesis: the proteasome complex, the protein phosphatase 2A, the chaperonins CCT complex, and the complex III of the respiratory chain.

  4. Quantitative image analysis of celiac disease.

    Science.gov (United States)

    Ciaccio, Edward J; Bhagat, Govind; Lewis, Suzanne K; Green, Peter H

    2015-03-07

    We outline the use of quantitative techniques that are currently used for analysis of celiac disease. Image processing techniques can be useful to statistically analyze the pixular data of endoscopic images that is acquired with standard or videocapsule endoscopy. It is shown how current techniques have evolved to become more useful for gastroenterologists who seek to understand celiac disease and to screen for it in suspected patients. New directions for focus in the development of methodology for diagnosis and treatment of this disease are suggested. It is evident that there are yet broad areas where there is potential to expand the use of quantitative techniques for improved analysis in suspected or known celiac disease patients.

  5. Quantitative image analysis of celiac disease

    Science.gov (United States)

    Ciaccio, Edward J; Bhagat, Govind; Lewis, Suzanne K; Green, Peter H

    2015-01-01

    We outline the use of quantitative techniques that are currently used for analysis of celiac disease. Image processing techniques can be useful to statistically analyze the pixular data of endoscopic images that is acquired with standard or videocapsule endoscopy. It is shown how current techniques have evolved to become more useful for gastroenterologists who seek to understand celiac disease and to screen for it in suspected patients. New directions for focus in the development of methodology for diagnosis and treatment of this disease are suggested. It is evident that there are yet broad areas where there is potential to expand the use of quantitative techniques for improved analysis in suspected or known celiac disease patients. PMID:25759524

  6. SPATIO-TEMPORAL CLUSTER ANALYSIS OF DISEASE

    Directory of Open Access Journals (Sweden)

    M. S. Abramovich

    2014-01-01

    Full Text Available The robust version of the spatial scanning statistics for clustering is proposed. Spatio-temporal cluster analysis algorithms were used for the cluster detection of incidence of thyroid carcinoma. Me-thods and algorithms of detection and building clusters for disease on studying territories are consi-dered.

  7. Mitochondrial DNA analysis in Parkinson's disease.

    Science.gov (United States)

    Schapira, A H; Holt, I J; Sweeney, M; Harding, A E; Jenner, P; Marsden, C D

    1990-01-01

    The reduced form of nicotinamide adenine dinucleotide coenzyme Q reductase (complex I) activity has recently been shown to be deficient in the substantia nigra of patients dying with Parkinson's disease. This biochemical defect is identical to that produced by the neurotoxin 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP), which also produces parkinsonism in humans. Complex I comprises 25 polypeptides, seven of which are encoded by mitochondrial DNA. Restriction fragment analysis of substantia nigra DNA from six patients with Parkinson's disease did not show any major deletion. In two cases, there were different novel polymorphisms that were not observed in control brain (n = 6) or blood (n = 34) samples.

  8. Preliminary results from 28 cases of pilonidal cyst treated by excision and primary closure of the wound, reinforced with support suturing

    Directory of Open Access Journals (Sweden)

    Nelson de Souza Liboni

    2007-06-01

    Full Text Available Objectives: To describe the results of the surgical technique of pilonidalcyst excision with margins and primary closure of the operative woundwith support suturing. Methods: Twenty-eight patients with pilonidaldisease admitted to a private clinic between 1999 and 2006 underwentsurgical treatment by means of an elliptical longitudinal medial incisionproportional to the palpable tumor size and excision of cyst with 2-cmmargins above, below and laterally, and primary closure of the wound.To reduce the tension in the operative wound, suturing was performed,with a single support stitch of horizontal U-shape. The patients werefollowed up for periods ranging from 6 months to 3 years. Results:Two patients developed abscesses at the surgical site (7.1%, andone required complete opening of the operative wound for drainage.Both underwent excision and primary closure again. The pathologicalexamination demonstrated that these were not cases of relapse, butof recurrent abscess. No cases of non-infected collection (seroma andhematoma, spontaneous dehiscence of the operative wound or diseaserecurrence were recorded. Conclusions: The technique of pilonidal cystexcision with margins and primary closure of the wound reinforcedwith support suturing seems to be attractive, since it is characterizedby low complexity and low infection rate. Studies with larger samplesare needed to validate this surgical technique.

  9. Neoplastic pericardial disease. Analysis of 26 patients

    Directory of Open Access Journals (Sweden)

    Helena Nogueira Soufen

    1999-01-01

    Full Text Available PURPOSE: To characterize patients with neoplastic pericardial disease diagnosed by clinical presentation, complementary test findings, and the histological type of tumor. METHODS: Twenty-six patients with neoplastic pericardial disease were retrospectively analyzed. RESULTS: Clinical manifestations and abnormalities in chest roentgenograms and electrocardiograms were frequent, but were not specific. Most patients underwent surgery. There was a high positivity of the pericardial biopsy when associated with the cytological analysis of the pericardial liquid used to determine the histological type of the tumor, particularly when the procedure was performed with the aid of pericardioscopy. CONCLUSION: The correct diagnosis of neoplastic pericardial disease involves suspicious but nonspecific findings during clinical examination and in screen tests. The suspicious findings must be confirmed through more invasive diagnostic approaches, in particular pericardioscopy with biopsy and cytological study.

  10. Fetal chromosome analysis: screening for chromosome disease?

    DEFF Research Database (Denmark)

    Philip, J; Tabor, Ann; Bang, J

    1983-01-01

    The aim of the study was to investigate the rationale of the current indications for fetal chromosome analysis. 5372 women had 5423 amniocentesis performed, this group constituting a consecutive sample at the chromosome laboratory, Rigshospitalet, Copenhagen from March 1973 to September 1980 (Group...... to women having amniocentesis, although considered not to have any increased risk of fetal chromosome abnormality (1390 pregnancies, group B). They were also compared with 750 consecutive pregnancies in women 25-34 years of age, in whom all heritable diseases were excluded (group C). The risk of unbalanced...... with women without elevated risk. Spontaneous abortion rate and prematurity rate did not differ from rates expected without amniocentesis. It is concluded that current indications may be characterized as a mixture of evident high risk factors and factors with only a minor influence on risk. Indications...

  11. APPLYING OF GAS ANALYSIS IN DIAGNOSIS OF BRONCHOPULMONARY DISEASES

    Directory of Open Access Journals (Sweden)

    Ye. B. Bukreyeva

    2014-01-01

    Full Text Available Bronchopulmonary system diseases are on the first place among the causes of people's death. Most of methods for lung diseases diagnosis are invasive or not suitable for children and patients with severe disease. One of the promising methods of clinical diagnosis and disease activity monitoring of bronchopulmonary system is analyzing of human breath. Directly exhaled breath or exhaled breath condensate are using for human breaths analyzing. Analysis of human breath can apply for diagnostic, long monitoring and evaluation of efficacy of the treatment bronchopulmonary diseases. Differential diagnostic between chronic obstructive lung disease (COPD and bronchial asthma is complicated because they have differences in pathogenesis. Analysis of human breath allows to explore features of COPD and bronchial asthma and to improve differential diagnostic of these diseases. Human breaths analyzing can apply for diagnostic dangerous diseases, such as tuberculosis, lung cancer. The analysis of breath air by spectroscopy methods is new noninvasive way for diagnosis of bronchopulmonary diseases.

  12. Chronic wasting disease risk analysis workshop: An integrative approach

    Science.gov (United States)

    Gillette, Shana; Dein, Joshua; Salman, Mo; Richards, Bryan; Duarte, Paulo

    2004-01-01

    Risk analysis tools have been successfully used to determine the potential hazard associated with disease introductions and have facilitated management decisions designed to limit the potential for disease introduction. Chronic Wasting Disease (CWD) poses significant challenges for resource managers due to an incomplete understanding of disease etiology and epidemiology and the complexity of management and political jurisdictions. Tools designed specifically to assess the risk of CWD introduction would be of great value to policy makers in areas where CWD has not been detected.

  13. Mutational analysis of TARDBP in Parkinson's disease

    NARCIS (Netherlands)

    Blitterswijk, M. van; Es, M.A. van; Verbaan, D.; Hilten, J.J. van; Scheffer, H.; Warrenburg, B.P.C. van de; Veldink, J.H.; Berg, L.H. van den

    2013-01-01

    Mutations in TAR DNA-binding protein (TARDBP) are associated with heterogenic phenotypes, including amyotrophic lateral sclerosis, frontotemporal dementia, and Parkinson's disease. In this study, we investigated the presence of TARDBP mutations in a cohort of 429 Dutch patients with Parkinson's dise

  14. Impairments of auditory scene analysis in Alzheimer's disease.

    Science.gov (United States)

    Goll, Johanna C; Kim, Lois G; Ridgway, Gerard R; Hailstone, Julia C; Lehmann, Manja; Buckley, Aisling H; Crutch, Sebastian J; Warren, Jason D

    2012-01-01

    Parsing of sound sources in the auditory environment or 'auditory scene analysis' is a computationally demanding cognitive operation that is likely to be vulnerable to the neurodegenerative process in Alzheimer's disease. However, little information is available concerning auditory scene analysis in Alzheimer's disease. Here we undertook a detailed neuropsychological and neuroanatomical characterization of auditory scene analysis in a cohort of 21 patients with clinically typical Alzheimer's disease versus age-matched healthy control subjects. We designed a novel auditory dual stream paradigm based on synthetic sound sequences to assess two key generic operations in auditory scene analysis (object segregation and grouping) in relation to simpler auditory perceptual, task and general neuropsychological factors. In order to assess neuroanatomical associations of performance on auditory scene analysis tasks, structural brain magnetic resonance imaging data from the patient cohort were analysed using voxel-based morphometry. Compared with healthy controls, patients with Alzheimer's disease had impairments of auditory scene analysis, and segregation and grouping operations were comparably affected. Auditory scene analysis impairments in Alzheimer's disease were not wholly attributable to simple auditory perceptual or task factors; however, the between-group difference relative to healthy controls was attenuated after accounting for non-verbal (visuospatial) working memory capacity. These findings demonstrate that clinically typical Alzheimer's disease is associated with a generic deficit of auditory scene analysis. Neuroanatomical associations of auditory scene analysis performance were identified in posterior cortical areas including the posterior superior temporal lobes and posterior cingulate. This work suggests a basis for understanding a class of clinical symptoms in Alzheimer's disease and for delineating cognitive mechanisms that mediate auditory scene analysis

  15. Molecular diagnostic analysis for Huntington's disease: a prospective evaluation.

    OpenAIRE

    MacMillan, J C; Davies, P.; Harper, P S

    1995-01-01

    The availability of mutation analysis for the CAG repeat expansion associated with Huntington's disease has prompted clinicians in various specialties to request testing of samples from patients displaying clinical features that might be attributable to Huntington's disease. A series of 38 cases presenting with clinical features thought possibly to be due to Huntington's disease were analysed prospectively. In 53% of such cases presenting initially with chorea and 62.5% with psychiatric sympt...

  16. From quantitative protein complex analysis to disease mechanism.

    Science.gov (United States)

    Texier, Y; Kinkl, N; Boldt, K; Ueffing, M

    2012-12-15

    Interest in the field of cilia biology and cilia-associated diseases - ciliopathies - has strongly increased over the last few years. Proteomic technologies, especially protein complex analysis by affinity purification-based methods, have been used to decipher various basic but also disease-associated mechanisms. This review focusses on some selected recent studies using affinity purification-based protein complex analysis, thereby exemplifying the great possibilities this technology offers.

  17. Huntington disease: DNA analysis in brazilian population

    Directory of Open Access Journals (Sweden)

    RASKIN SALMO

    2000-01-01

    Full Text Available Huntington disease (HD is associated with expansions of a CAG trinucleotide repeat in the HD gene. Accurate measurement of a specific CAG repeat sequence in the HD gene in 92 Brazilian controls without HD, 44 Brazilian subjects with clinical findings suggestive of HD and 40 individuals from 6 putative HD families, showed a range from 7 to 33 repeats in normal subjects and 39 to 88 repeats in affected subjects. A trend between early age at onset of first symptoms and increasing number of repeats was seen. Major increase of repeat size through paternal inheritance than through maternal inheritance was observed. Data generated from this study may have significant implications for the etiology, knowledge of the incidence, diagnosis, prognosis, genetic counseling and treatment of HD Brazilian patients.

  18. Pathway-based analysis tools for complex diseases: a review.

    Science.gov (United States)

    Jin, Lv; Zuo, Xiao-Yu; Su, Wei-Yang; Zhao, Xiao-Lei; Yuan, Man-Qiong; Han, Li-Zhen; Zhao, Xiang; Chen, Ye-Da; Rao, Shao-Qi

    2014-10-01

    Genetic studies are traditionally based on single-gene analysis. The use of these analyses can pose tremendous challenges for elucidating complicated genetic interplays involved in complex human diseases. Modern pathway-based analysis provides a technique, which allows a comprehensive understanding of the molecular mechanisms underlying complex diseases. Extensive studies utilizing the methods and applications for pathway-based analysis have significantly advanced our capacity to explore large-scale omics data, which has rapidly accumulated in biomedical fields. This article is a comprehensive review of the pathway-based analysis methods-the powerful methods with the potential to uncover the biological depths of the complex diseases. The general concepts and procedures for the pathway-based analysis methods are introduced and then, a comprehensive review of the major approaches for this analysis is presented. In addition, a list of available pathway-based analysis software and databases is provided. Finally, future directions and challenges for the methodological development and applications of pathway-based analysis techniques are discussed. This review will provide a useful guide to dissect complex diseases.

  19. Association factor analysis between osteoporosis with cerebral artery disease

    Science.gov (United States)

    Jin, Eun-Sun; Jeong, Je Hoon; Lee, Bora; Im, Soo Bin

    2017-01-01

    Abstract The purpose of this study was to determine the clinical association factors between osteoporosis and cerebral artery disease in Korean population. Two hundred nineteen postmenopausal women and men undergoing cerebral computed tomography angiography were enrolled in this study to evaluate the cerebral artery disease by cross-sectional study. Cerebral artery disease was diagnosed if there was narrowing of 50% higher diameter in one or more cerebral vessel artery or presence of vascular calcification. History of osteoporotic fracture was assessed using medical record, and radiographic data such as simple radiography, MRI, and bone scan. Bone mineral density was checked by dual-energy x-ray absorptiometry. We reviewed clinical characteristics in all patients and also performed subgroup analysis for total or extracranial/ intracranial cerebral artery disease group retrospectively. We performed statistical analysis by means of chi-square test or Fisher's exact test for categorical variables and Student's t-test or Wilcoxon's rank sum test for continuous variables. We also used univariate and multivariate logistic regression analyses were conducted to assess the factors associated with the prevalence of cerebral artery disease. A two-tailed p-value of less than 0.05 was considered as statistically significant. All statistical analyses were performed using R (version 3.1.3; The R Foundation for Statistical Computing, Vienna, Austria) and SPSS (version 14.0; SPSS, Inc, Chicago, Ill, USA). Of the 219 patients, 142 had cerebral artery disease. All vertebral fracture was observed in 29 (13.24%) patients. There was significant difference in hip fracture according to the presence or absence of cerebral artery disease. In logistic regression analysis, osteoporotic hip fracture was significantly associated with extracranial cerebral artery disease after adjusting for multiple risk factors. Females with osteoporotic hip fracture were associated with total calcified

  20. Network analysis of genes and their association with diseases.

    Science.gov (United States)

    Kontou, Panagiota I; Pavlopoulou, Athanasia; Dimou, Niki L; Pavlopoulos, Georgios A; Bagos, Pantelis G

    2016-09-15

    A plethora of network-based approaches within the Systems Biology universe have been applied, to date, to investigate the underlying molecular mechanisms of various human diseases. In the present study, we perform a bipartite, topological and clustering graph analysis in order to gain a better understanding of the relationships between human genetic diseases and the relationships between the genes that are implicated in them. For this purpose, disease-disease and gene-gene networks were constructed from combined gene-disease association networks. The latter, were created by collecting and integrating data from three diverse resources, each one with different content covering from rare monogenic disorders to common complex diseases. This data pluralism enabled us to uncover important associations between diseases with unrelated phenotypic manifestations but with common genetic origin. For our analysis, the topological attributes and the functional implications of the individual networks were taken into account and are shortly discussed. We believe that some observations of this study could advance our understanding regarding the etiology of a disease with distinct pathological manifestations, and simultaneously provide the springboard for the development of preventive and therapeutic strategies and its underlying genetic mechanisms.

  1. [Biliary peritonitis: retrospective analysis of the disease].

    Science.gov (United States)

    Sirakov, M; Chupetlovski, S; Panov, Ts; Iliev, I

    2001-01-01

    The authors have done a biliary retrospective analysis of 10 deceased patients with a diagnosis of biliary peritonitis (BP). It is reported that the patients who died of BP are 9.5% of all who died of diffuse purulent peritonitis. All deceased patients were advanced and well advanced in years with prolonged complaints--in over 50% of them over 5 years. The complications set in 50% of the cases are recorded in the postoperative period. The perforation of the gallbladder and the biliopancreatitis are in the second place. Intrabiliary fistulas with 4 patients and 1 with a vesicocolon fistula; tumor of the pancreas with 4 patients; empyema of the gallbladder--3; diabetes with 3 of the patients and others are recorded as accompanying troubles which complicate the operation and the outcome of it. The time between the beginning of the complication and the operation with all the deceased patients is over 72 hours.

  2. Application of the phylogenetic analysis in mitochondrial disease study

    Institute of Scientific and Technical Information of China (English)

    WANG ChengYe; KONG QingPeng; ZHANG YaPing

    2008-01-01

    Mitochondrial disease currently received an increasing concern. However, the case-control design commonly adopted in this field is vulnerable to genetic background, population stratification and poor data quality. Although the phylogenetic analysis could help solve part of these problems, it has not received adequate attention. This paper is a review of this method as well as its application in mito-chondrial disease study.

  3. A Speedy Cardiovascular Diseases Classifier Using Multiple Criteria Decision Analysis

    Directory of Open Access Journals (Sweden)

    Wah Ching Lee

    2015-01-01

    Full Text Available Each year, some 30 percent of global deaths are caused by cardiovascular diseases. This figure is worsening due to both the increasing elderly population and severe shortages of medical personnel. The development of a cardiovascular diseases classifier (CDC for auto-diagnosis will help address solve the problem. Former CDCs did not achieve quick evaluation of cardiovascular diseases. In this letter, a new CDC to achieve speedy detection is investigated. This investigation incorporates the analytic hierarchy process (AHP-based multiple criteria decision analysis (MCDA to develop feature vectors using a Support Vector Machine. The MCDA facilitates the efficient assignment of appropriate weightings to potential patients, thus scaling down the number of features. Since the new CDC will only adopt the most meaningful features for discrimination between healthy persons versus cardiovascular disease patients, a speedy detection of cardiovascular diseases has been successfully implemented.

  4. Survival Analysis of Patients with End Stage Renal Disease

    Science.gov (United States)

    Urrutia, J. D.; Gayo, W. S.; Bautista, L. A.; Baccay, E. B.

    2015-06-01

    This paper provides a survival analysis of End Stage Renal Disease (ESRD) under Kaplan-Meier Estimates and Weibull Distribution. The data were obtained from the records of V. L. MakabaliMemorial Hospital with respect to time t (patient's age), covariates such as developed secondary disease (Pulmonary Congestion and Cardiovascular Disease), gender, and the event of interest: the death of ESRD patients. Survival and hazard rates were estimated using NCSS for Weibull Distribution and SPSS for Kaplan-Meier Estimates. These lead to the same conclusion that hazard rate increases and survival rate decreases of ESRD patient diagnosed with Pulmonary Congestion, Cardiovascular Disease and both diseases with respect to time. It also shows that female patients have a greater risk of death compared to males. The probability risk was given the equation R = 1 — e-H(t) where e-H(t) is the survival function, H(t) the cumulative hazard function which was created using Cox-Regression.

  5. Flatography: Detection of gastrointestinal diseases by faecal gas analysis

    Institute of Scientific and Technical Information of China (English)

    Evelien; F; de; Groot; Tim; G; de; Meij; Daniel; J; Berkhout; Marc; P; van; der; Schee; Nanne; K; de; Boer

    2015-01-01

    Patients presenting with gastro-intestinal symptoms might suffer from a range of possible underlying diseases. An unmet need exists for novel cost-effective,reproducible, easy-to-perform and non-invasive tests. Hippocrates used body odours to diagnose diseases circa 460 before Christ. The art of diagnostic smelling is making a promising high-tech come-back with portable "electronic diagnostic noses". Analysis of faecal volatile organic compounds is a novel field in metabolomics with considerable potential to improve the diagnosis, phenotyping and monitoring of gastro-intestinal disease. Challenges will be to mature over the coming years by development of a standardized methodology for stool sample collection, storage, handling and analysis. Furthermore, key volatiles need to be identified to improve test accuracy and sensitivity by development of sensors tailored toward the accurate identification of disease specific volatiles. If these challenges are adequately faced, analysis of faecal volatiles has realistic potential to considerably improve screening, diagnosis and disease monitoring for gastro-intestinal diseases.

  6. Spatial analysis of neglected diseases in Brazil, 2007 to 2009

    Directory of Open Access Journals (Sweden)

    Joyce Mendes de Andrade Schramm

    2016-07-01

    Full Text Available This paper aims to describe a set of epidemiological information regarding the spatial distribution of selected neglected diseases in Brazil from 2007 to 2009 and health care infrastructure and socio-economic indicators 2010. An ecological study of the spatial analysis, based on the incidence of tuberculosis, visceral leishmaniasis, American cutaneous leishmaniasis, malaria and prevalence of leprosy and schistosomiasis. Maps with the spatial distribution of the prevalence and incidence rates were drawn, as well as cluster detection maps, applying spatial statistical analysis techniques. A thematic map with the total distribution of priority municipalities was developed for each disease. Malaria and schistosomiasis had the highest incidence and prevalence rates respectively. All diseases analyzed showed dependence in the spatial correlation measure. A total of 1,630 Brazilians municipalities (29% were considered by the Ministry of Health as a priority to receive control actions for at least one of the studied diseases. North and Northeast regions concentrate municipalities with at least three simultaneous diseases, which overlap with the lowest socio-economic indicators. Spatial analysis studies may contribute to a better planning and organizing health care and services, aiming to reduce the existent gap regarding scientific knowledge on neglected diseases.

  7. Population attributable fraction analysis of leading chronic diseases in India

    Directory of Open Access Journals (Sweden)

    A. Choudhury

    2016-08-01

    Full Text Available Chronic diseases and their associated risk factors are increasing in India. We aim to quantify the Population Attributable Fractions (PAF of leading chronic diseases in India associated with significant modifiable risk factors. In calculating adjusted population attributable fraction, non modifiable risk factors are taken as confounders. Our findings highlight that an agenda to improve public health in India must include effective interventions to control tobacco use for cancer and heart disease prevention. There is also an urgent need to educate the general public to maintain proper BMI level thereby reducing diabetes burden in India. The analysis is based on a country wide large scale survey.

  8. CLINICAL ANALYSIS AND TREATMENT OF 14 CASESOF EXTRAMAMMARY PAGET'S DISEASE

    Institute of Scientific and Technical Information of China (English)

    2000-01-01

    Objective To diffrentiate extramammary Paget' s disease ( EPD ) clinically and histologically from other skin diseases. Methods Clinical analysis and excisional treatment of 14 patients with EPD were reviewed from 1987 to 1997. Results Of 14 patients, 12 involved scrotum and penis, one in the groin and the other one in the perianal region. All were positive for cytokeratin and negative for S-100 protein. Follow-up showed 3 recurrences who had positive surgical margin biopsy. One died of other disease. Conclusion Surgery is the first choice for treatment of EPD. Negative margin must be achieved to prevent local recurrence.

  9. Development of a disease registry for autoimmune bullous diseases: initial analysis of the pemphigus vulgaris subset.

    Science.gov (United States)

    Shah, Amit Aakash; Seiffert-Sinha, Kristina; Sirois, David; Werth, Victoria P; Rengarajan, Badri; Zrnchik, William; Attwood, Kristopher; Sinha, Animesh A

    2015-01-01

    Pemphigus vulgaris (PV) is a rare, potentially life threatening, autoimmune blistering skin disease. The International Pemphigus and Pemphigoid Foundation (IPPF) has recently developed a disease registry with the aim to enhance our understanding of autoimmune bullous diseases with the long-term goal of acquiring information to improve patient care. Patients were recruited to the IPPF disease registry through direct mail, e-mail, advertisements, and articles in the IPPF-quarterly, -website, -Facebook webpage, and IPPF Peer Health Coaches to complete a 38-question survey. We present here the initial analysis of detailed clinical information collected on 393 PV patients. We report previously unrecognized gender differences in terms of lesion location, autoimmune comorbidity, and delay in diagnosis. The IPPF disease registry serves as a useful resource and guide for future clinical investigation.

  10. Classification of pulmonary airway disease based on mucosal color analysis

    Science.gov (United States)

    Suter, Melissa; Reinhardt, Joseph M.; Riker, David; Ferguson, John Scott; McLennan, Geoffrey

    2005-04-01

    Airway mucosal color changes occur in response to the development of bronchial diseases including lung cancer, cystic fibrosis, chronic bronchitis, emphysema and asthma. These associated changes are often visualized using standard macro-optical bronchoscopy techniques. A limitation to this form of assessment is that the subtle changes that indicate early stages in disease development may often be missed as a result of this highly subjective assessment, especially in inexperienced bronchoscopists. Tri-chromatic CCD chip bronchoscopes allow for digital color analysis of the pulmonary airway mucosa. This form of analysis may facilitate a greater understanding of airway disease response. A 2-step image classification approach is employed: the first step is to distinguish between healthy and diseased bronchoscope images and the second is to classify the detected abnormal images into 1 of 4 possible disease categories. A database of airway mucosal color constructed from healthy human volunteers is used as a standard against which statistical comparisons are made from mucosa with known apparent airway abnormalities. This approach demonstrates great promise as an effective detection and diagnosis tool to highlight potentially abnormal airway mucosa identifying a region possibly suited to further analysis via airway forceps biopsy, or newly developed micro-optical biopsy strategies. Following the identification of abnormal airway images a neural network is used to distinguish between the different disease classes. We have shown that classification of potentially diseased airway mucosa is possible through comparative color analysis of digital bronchoscope images. The combination of the two strategies appears to increase the classification accuracy in addition to greatly decreasing the computational time.

  11. A systematic approach to multifactorial cardiovascular disease: causal analysis.

    Science.gov (United States)

    Schwartz, Stephen M; Schwartz, Hillel T; Horvath, Steven; Schadt, Eric; Lee, Su-In

    2012-12-01

    The combination of systems biology and large data sets offers new approaches to the study of cardiovascular diseases. These new approaches are especially important for the common cardiovascular diseases that have long been described as multifactorial. This promise is undermined by biologists' skepticism of the spider web-like network diagrams required to analyze these large data sets. Although these spider webs resemble composites of the familiar biochemical pathway diagrams, the complexity of the webs is overwhelming. As a result, biologists collaborate with data analysts whose mathematical methods seem much like those of experts using Ouija boards. To make matters worse, it is not evident how to design experiments when the network implies that many molecules must be part of the disease process. Our goal is to remove some of this mystery and suggest a simple experimental approach to the design of experiments appropriate for such analysis. We will attempt to explain how combinations of data sets that include all possible variables, graphical diagrams, complementation of different data sets, and Bayesian analyses now make it possible to determine the causes of multifactorial cardiovascular disease. We will describe this approach using the term causal analysis. Finally, we will describe how causal analysis is already being used to decipher the interactions among cytokines as causes of cardiovascular disease.

  12. Mathematical analysis of dynamic spread of Pine Wilt disease.

    Science.gov (United States)

    Dimitrijevic, D D; Bacic, J

    2013-01-01

    Since its detection in Portugal in 1999, the pinewood nematode Bursaphelenchus xylophilus (Steiner and Buhrer), a causal agent of Pine Wilt Disease, represents a threat to European forestry. Significant amount of money has been spent on its monitoring and eradication. This paper presents mathematical analysis of spread of pine wilt disease using a set of partial differential equations with space (longitude and latitude) and time as parameters of estimated spread of disease. This methodology can be used to evaluate risk of various assumed entry points of disease and make defense plans in advance. In case of an already existing outbreak, it can be used to draw optimal line of defense and plan removal of trees. Optimization constraints are economic loss of removal of susceptible trees as well as budgetary constraints of workforce cost.

  13. Pattern analysis of drug-induced skin diseases.

    Science.gov (United States)

    Justiniano, Hildamari; Berlingeri-Ramos, Alma C; Sánchez, Jorge L

    2008-08-01

    Drug eruptions are common adverse reactions to drug therapy and are a frequent reason for consultation in clinical practice. Even though any medication can potentially cause an adverse cutaneous reaction, some drugs are implicated more commonly than others. Histologically, drugs can elicit a variety of inflammatory disease patterns in the skin and panniculus, no pattern being specific for a particular drug. The most common pattern elicited by systemically administered medications is the perivascular pattern. Psoriasiform or granulomatous patterns are rarely caused by medications. The usual histologic patterns of drug eruptions are discussed in this review using the basic patterns of inflammatory diseases. Clinicopathologic correlation is established for relevant patterns. However, the changes of drug-induced skin disease must be made considering clinical presentation, histopathological analysis, and course of the disease.

  14. Body mass index in Parkinson's disease: a meta-analysis.

    NARCIS (Netherlands)

    Marck, M.A. van der; Dicke, H.C.; Uc, E.Y.; Kentin, Z.H.; Borm, G.F.; Bloem, B.R.; Overeem, S.; Munneke, M.

    2012-01-01

    Prior work suggested that patients with Parkinson's disease (PD) have a lower Body Mass Index (BMI) than controls, but evidence is inconclusive. We therefore conducted a meta-analysis on BMI in PD. We searched MEDLINE, EMBASE, Cinahl and Scopus to identify cohort studies on BMI in PD, published befo

  15. SensorShoe: Mobile Gait Analysis for Parkinson's Disease Patients

    NARCIS (Netherlands)

    Kauw-A-Tjoe, R.; Thalen, J.; Marin-Perianu, M.; Havinga, P.J.M.

    2007-01-01

    We present the design and initial evaluation of a mobile gait analysis system, SensorShoe. The target user group is represented by Parkinson's Disease patients, which need continuous assistance with the physical therapy in their home environment. SensorShoe analyses the gait by using a low-power sen

  16. SensorShoe: Mobile Gait Analysis for Parkinson's Disease Patients

    NARCIS (Netherlands)

    Havinga, P.J.M.; Kauw-A-Tjoe, R.G.; Marin-Perianu, M.; Thalen, J.P.

    2007-01-01

    We present the design and initial evaluation of a mobile gait analysis system, SensorShoe. The target user group is represented by Parkinson's Disease patients, which need continous assistance with the physical therapy in their home environment. SensorShoe analyses the gait by using a low-power sens

  17. Using fractal analysis of thermal signatures for thyroid disease evaluation

    Science.gov (United States)

    Gavriloaia, Gheorghe; Sofron, Emil; Gavriloaia, Mariuca-Roxana; Ghemigean, Adina-Mariana

    2010-11-01

    The skin is the largest organ of the body and it protects against heat, light, injury and infection. Skin temperature is an important parameter for diagnosing diseases. Thermal analysis is non-invasive, painless, and relatively inexpensive, showing a great potential research. Since the thyroid regulates metabolic rate it is intimately connected to body temperature, more than, any modification of its function generates a specific thermal image on the neck skin. The shapes of thermal signatures are often irregular in size and shape. Euclidean geometry is not able to evaluate their shape for different thyroid diseases, and fractal geometry is used in this paper. Different thyroid diseases generate different shapes, and their complexity are evaluated by specific mathematical approaches, fractal analysis, in order to the evaluate selfsimilarity and lacunarity. Two kinds of thyroid diseases, hyperthyroidism and papillary cancer are analyzed in this paper. The results are encouraging and show the ability to continue research for thermal signature to be used in early diagnosis of thyroid diseases.

  18. Comparative molecular analysis of bacterial species associated with periodontal disease.

    Science.gov (United States)

    De Iuliis, V; Ursi, S; Di Tommaso, L M; Caruso, M; Marino, A; D Ercole, S; Caputi, S; Sinjari, B; Festa, F; Macri, M; Martinotti, S; Vitullo, G; Toniato, E

    2016-01-01

    Periodontal disease is an inflammatory disorder affecting the supporting teeth structures, including gingiva, periodontal ligament and alveolar bone, causing loss of connective tissue, reabsorption of alveolar bone and formation of periodontal pockets. The aim of this study is to find a correlation between bacterial growth and periodontal disease. Fifty-seven patients aged between 21 and 65 years, median age 46 years, were enrolled. According to gingival pocket depth, ranging from 3 to 7 mm, patients were divided into two groups: the first (30 patients, 53%) with deep pockets ³ 5 mm and the second (27 patients, 47%) less than 5 mm. The samples taken were processed for microbiological analysis by absolute quantitative real-time Taq-Man technique. Patients affected by periodontal disease were 32 (56%) and patients with gingival bleeding were 35 (61%). This data showed that the presence, the type and the bacterial load in gingival pockets were strongly correlated with gingival depth, periodontal disease and gingival bleeding. Quantitative microbiological analysis is a key point to improve patient compliance, allowing to choose the specific antibiotic treatment. avoiding antibiotic resistance and ensuring the successful outcome of therapy for periodontal disease.

  19. Gene expression analysis approach to establish possible links between Parkinson's disease, cancer and cardiovascular diseases.

    Science.gov (United States)

    Karim, Sajjad; Mirza, Zeenat; Kamal, Mohammad A; Abuzenadah, Adel M; Al-Qahtani, Mohammed H

    2014-01-01

    Non-communicable chronic diseases have been apparently established as threat to human health, and are currently the world's main killer. Cardiovascular diseases (CVD), cancer, diabetes and neurodegenerative diseases are collectively amounting to more than 60% of non-communicable disease burden across world. Tremendous advancements in healthcare enabled us to fight several health problems primarily infectious diseases. However, this increased longevity where in many cases an individual suffers from several such chronic diseases simultaneously, making treatment complex. Finding whether diseases can coexist in an individual by chance or there exists a possible association between them is vital. Our goal is to establish possible existing link among CVD, cancer and Parkinson's disease (PD) for better understanding of the associated molecular network. In this study, we integrated multiple dataset retrieved from the National Centre for Biotechnology Information's Gene Expression Omnibus database, and took a systems-biology approach to compare and distinguish the molecular network associated with PD, cancer and CVD. We identified 230, 308 and 1619 differentially expressed genes for CVD, cancer and PD dataset respectively using cut off p value2. We integrated these data with known pathways using Ingenuity Pathway Analysis tool and found following common pathways associated with all three diseases to be most affected; epithelial adherens junction signaling, remodelling of epithelial adherens junctions, role of BRCA1 in DNA damage response, sphingomyelin metabolism, 3- phosphoinositide biosynthesis, acute myeloid leukemia signaling, type I diabetes mellitus signaling, agrin interactions at neuromuscular junction, role of IL-17A in arthritis, and antigen presentation pathways. In conclusion, CVD, cancer and PD appear tightly associated at molecular level.

  20. Protein-protein interaction network analysis of cirrhosis liver disease.

    Science.gov (United States)

    Safaei, Akram; Rezaei Tavirani, Mostafa; Arefi Oskouei, Afsaneh; Zamanian Azodi, Mona; Mohebbi, Seyed Reza; Nikzamir, Abdol Rahim

    2016-01-01

    Evaluation of biological characteristics of 13 identified proteins of patients with cirrhotic liver disease is the main aim of this research. In clinical usage, liver biopsy remains the gold standard for diagnosis of hepatic fibrosis. Evaluation and confirmation of liver fibrosis stages and severity of chronic diseases require a precise and noninvasive biomarkers. Since the early detection of cirrhosis is a clinical problem, achieving a sensitive, specific and predictive novel method based on biomarkers is an important task. Essential analysis, such as gene ontology (GO) enrichment and protein-protein interactions (PPI) was undergone EXPASy, STRING Database and DAVID Bioinformatics Resources query. Based on GO analysis, most of proteins are located in the endoplasmic reticulum lumen, intracellular organelle lumen, membrane-enclosed lumen, and extracellular region. The relevant molecular functions are actin binding, metal ion binding, cation binding and ion binding. Cell adhesion, biological adhesion, cellular amino acid derivative, metabolic process and homeostatic process are the related processes. Protein-protein interaction network analysis introduced five proteins (fibroblast growth factor receptor 4, tropomyosin 4, tropomyosin 2 (beta), lectin, Lectin galactoside-binding soluble 3 binding protein and apolipoprotein A-I) as hub and bottleneck proteins. Our result indicates that regulation of lipid metabolism and cell survival are important biological processes involved in cirrhosis disease. More investigation of above mentioned proteins will provide a better understanding of cirrhosis disease.

  1. Economic analysis of animal disease outbreaks--BSE and Bluetongue disease as examples.

    Science.gov (United States)

    Gethmann, Jörn; Probst, Carolina; Sauter-Louis, Carola; Conraths, Franz Josef

    2015-01-01

    Although there is a long tradition of research on animal disease control, economic evaluation of control measures is rather limited in veterinary medicine. This may, on the one hand, be due to the different types of costs and refunds and the different people and organizations bearing them, such as animal holders, county, region, state or European Union, but it may also be due to the fact that economic analyses are both complex and time consuming. Only recently attention has turned towards economic analysis in animal disease control. Examples include situations, when decisions between different control measures must be taken, especially if alternatives to culling or compulsory vaccination are under discussion. To determine an optimal combination of control measures (strategy), a cost-benefit analysis should be performed. It is not necessary to take decisions only based on the financial impact, but it becomes possible to take economic aspects into account. To this end, the costs caused by the animal disease and the adopted control measures must be assessed. This article presents a brief overview of the methodological approaches used to retrospectively analyse the economic impact of two particular relevant diseases in Germany in the last few years: Blue-tongue disease (BT) and Bovine Spongiform Encephalopathy (BSE).

  2. Classification of papulo-squamous skin diseases using image analysis.

    Science.gov (United States)

    Mashaly, H M; Masood, N A; Mohamed, Abdalla S A

    2012-02-01

    Papulo-squamous skin diseases are variable but are very close in their clinical features. They present with the same lesions, erythematous scaly lesions. Clinical evaluation of skin lesions is based on common sense and experience of the dermatologist to differentiate features of each disease. To evaluate a computer-based image analysis system as a helping tool for classification of commonly encountered diseases. The study included 50 selected images from each of psoriasis, lichen planus, atopic dermatitis, seborrheic dermatitis, pityrasis rosea, and pitryasis rubra pilaris with a total of 300 images. The study comprised three main processes peformed on the 300 included images: segmentation, feature extraction followed by classification. Rough sets recorded the highest percentage of accuracy and sensitivity of segmentation for the six groups of diseases compared with the other three used techniques (topological derivative, K-means clustering, and watershed). Rule-based classifier using the concept of rough sets recorded the best percentage of classification (96.7%) for the six groups of diseases compared with the other six techniques of classification used: K-means clustering, fuzzy c-means clustering, classification and regression tree, rule-based classifier with discretization, and K-nearest neighbor technique. Rough sets approach proves its superiority for both the segmentation and the classification processes of papulo-squamous skin diseases compared with the other used segmentation and classification techniques. © 2011 John Wiley & Sons A/S.

  3. Noninvasive diagnosis of chronic kidney diseases using urinary proteome analysis

    DEFF Research Database (Denmark)

    Siwy, Justyna; Zürbig, Petra; Argiles, Angel

    2016-01-01

    BACKGROUND: In spite of its invasive nature and risks, kidney biopsy is currently required for precise diagnosis of many chronic kidney diseases (CKDs). Here, we explored the hypothesis that analysis of the urinary proteome can discriminate different types of CKD irrespective of the underlying...... mechanism of disease. METHODS: We used data from the proteome analyses of 1180 urine samples from patients with different types of CKD, generated by capillary electrophoresis coupled to mass spectrometry. A set of 706 samples served as the discovery cohort, and 474 samples were used for independent...

  4. Breath Analysis in Disease Diagnosis: Methodological Considerations and Applications

    Directory of Open Access Journals (Sweden)

    Célia Lourenço

    2014-06-01

    Full Text Available Breath analysis is a promising field with great potential for non-invasive diagnosis of a number of disease states. Analysis of the concentrations of volatile organic compounds (VOCs in breath with an acceptable accuracy are assessed by means of using analytical techniques with high sensitivity, accuracy, precision, low response time, and low detection limit, which are desirable characteristics for the detection of VOCs in human breath. “Breath fingerprinting”, indicative of a specific clinical status, relies on the use of multivariate statistics methods with powerful in-built algorithms. The need for standardisation of sample collection and analysis is the main issue concerning breath analysis, blocking the introduction of breath tests into clinical practice. This review describes recent scientific developments in basic research and clinical applications, namely issues concerning sampling and biochemistry, highlighting the diagnostic potential of breath analysis for disease diagnosis. Several considerations that need to be taken into account in breath analysis are documented here, including the growing need for metabolomics to deal with breath profiles.

  5. Idiopathic Parkinson's disease: vocal and quality of life analysis

    Directory of Open Access Journals (Sweden)

    Luiza Furtado e Silva

    2012-09-01

    Full Text Available OBJECTIVE: To compare voice and life quality of male patients with idiopathic Parkinson's disease, with individuals without disease (Control Group. METHODS: A cross-sectional study that evaluated the voice of individuals with Parkinson's disease, the group was composed of 27 subjects, aged from 39 to 79 years-old (average 59.96. The Control Group was matched on sex and age. Participants underwent voice recording. Perceptual evaluation was made using GRBASI scale, which considers G as the overall degree of dysphonia, R as roughness, B as breathiness, A as asthenia, S as strain and I as instability. The acoustic parameters analyzed were: fundamental frequency, jitter, shimmer, and harmonic to noise ratio (NHR. For vocal self-perception analysis, we used the Voice Related Quality of Life protocol. RESULTS: Fundamental frequency and jitter presented higher values in the Parkinson's group. NHR values were higher in the Control Group. Perceptual analysis showed a deviation ranging. The vocal disorder self-perception demonstrated a worse impact on quality of life. CONCLUSIONS: Individuals with Parkinson's disease have an altered voice quality and a negative impact on quality of life.

  6. Analysis of Dose Response for Circulatory Disease After Radiotherapy for Benign Disease

    Energy Technology Data Exchange (ETDEWEB)

    Little, Mark P., E-mail: mark.little@nih.gov [Radiation Epidemiology Branch, National Cancer Institute, Executive Plaza South, Rockville, Maryland (United States); Kleinerman, Ruth A. [Radiation Epidemiology Branch, National Cancer Institute, Executive Plaza South, Rockville, Maryland (United States); Stovall, Marilyn; Smith, Susan A. [Department of Radiation Physics, University of Texas MD Anderson Cancer Center, Houston, Texas (United States); Mabuchi, Kiyohiko [Radiation Epidemiology Branch, National Cancer Institute, Executive Plaza South, Rockville, Maryland (United States)

    2012-12-01

    Purpose: To assess the shape of the dose-response for various circulatory disease endpoints, and modifiers by age and time since exposure. Methods and Materials: This was an analysis of the US peptic ulcer data testing for heterogeneity of radiogenic risk by circulatory disease endpoint (ischemic heart, cerebrovascular, other circulatory disease). Results: There were significant excess risks for all circulatory disease, with an excess relative risk Gy{sup -1} of 0.082 (95% CI 0.031-0.140), and ischemic heart disease, with an excess relative risk Gy{sup -1} of 0.102 (95% CI 0.039-0.174) (both p = 0.01), and indications of excess risk for stroke. There were no statistically significant (p > 0.2) differences between risks by endpoint, and few indications of curvature in the dose-response. There were significant (p < 0.001) modifications of relative risk by time since exposure, the magnitude of which did not vary between endpoints (p > 0.2). Risk modifications were similar if analysis was restricted to patients receiving radiation, although the relative risks were slightly larger and the risk of stroke failed to be significant. The slopes of the dose-response were generally consistent with those observed in the Japanese atomic bomb survivors and in occupationally and medically exposed groups. Conclusions: There were excess risks for a variety of circulatory diseases in this dataset, with significant modification of risk by time since exposure. The consistency of the dose-response slopes with those observed in radiotherapeutically treated groups at much higher dose, as well as in lower dose-exposed cohorts such as the Japanese atomic bomb survivors and nuclear workers, implies that there may be little sparing effect of fractionation of dose or low-dose-rate exposure.

  7. Mutation analysis of 28 gaucher disease patients: The Australasian experience

    Energy Technology Data Exchange (ETDEWEB)

    Lewis, B.D.; Nelson, P.V.; Robertson, E.F.; Morris, C.P. [Women`s and Children`s Hospital, North Adelaide, South Australia (Australia)

    1994-01-15

    Gaucher disease is the most common lysomal storage disease. It is an autosomal recessive disorder that results from a deficiency of {beta}-glucocerrebrosidase. Three clinical phenotypes have been described: non-neuronopathic, acute neuronopathic, and subacuteneuronopathic. Genomic DNA from 28 Australasian patients of diverse ethnic origin with Gaucher disease was screened for 3 common mutations (1226G, 1448C and 84GG) using the amplification refractory mutation system (ARMS), and one uncommon mutation (1504T) by restriction enzyme digestion. Thirty-eight of the 56 independent alleles in these patients were characterized, with 1448C present in 42% and 1226G in 28% of the alleles. The 1226G mutation was associated only with the nonneuronopathic phenotype and 7 of the 15 patients who carried the 1448C mutation developed neuronopathic disease. Three infants who died in the neonatal period following a rapidly progressive neurodegenerative course carried no identifiable mutations. The 84GG mutation was carried by 2 Jewish patients and 1504T was present in one patient. It is now possible to rapidly identify the common Gaucher mutations using ARMS and restriction enzyme digestion, and our findings confirm the heterogeneity of mutations in Gaucher disease. It is also possible to predict in part the phenotypic outcome when screening patients for these mutations. The authors consider mutation analysis to be of most use in prenatal diagnosis and for carrier detection within affected families. 27 refs., 2 figs., 2 tabs.

  8. Disordered eating patterns in coeliac disease: a framework analysis.

    Science.gov (United States)

    Satherley, R-M; Higgs, S; Howard, R

    2017-04-17

    The need for dietary-management in coeliac disease may lead to the development of disordered eating patterns. A theoretical model of disordered eating has been proposed to explain disordered eating in coeliac disease. The aim of this study was to explore the experiences of typical and disordered eating in coeliac disease to gain a greater understanding of these processes and explore specific pathways within this model. We interviewed 21 individuals with coeliac disease, recruited from a previous database, about their experiences with food and food environments. Information about disordered eating status was assessed via questionnaire. The interviews were analysed qualitatively using Framework analysis, which was underpinned by the theoretical model of disordered eating in coeliac disease. Experiences differed between participants scoring high on measures of disordered eating and those who scored low (typical eaters). Participants scoring high on measures of disordered eating were concerned about the consequences of their gluten-free diet on body image and they described eating patterns similar to binge/restrict cycles. Typical eaters reported being able to integrate their dietary self-management into their daily lives; however, general concerns around food and cross-contamination were associated with a restriction in food intake. Coeliac disease has a varied impact on eating patterns. The need to follow a gluten-free diet and to be vigilant around food has to be balanced with concerns around food availability and cross-contamination which have the potential to contribute towards disordered eating attitudes and behaviours. The findings suggest that the theoretical model of disordered eating provides an adequate explanation of disordered eating patterns in coeliac disease. © 2017 The British Dietetic Association Ltd.

  9. A meta-analysis of cerebrovascular disease and hyperhomocysteinaemia

    DEFF Research Database (Denmark)

    Nielsen, G M; Tvedegaard, K C; Andersen, Niels Trolle;

    2000-01-01

    Hyperhomocysteinaemia has been identified as a risk factor for stroke and cerebrovascular disease in several studies. To evaluate the evidence we performed a meta-analysis. We found 21 studies searching Medline from 1966-July 1999 using the key words homocysteine, homocystine and cerebrovascular...... was used. The reports on 8 cross-sectional and 4 longitudinal studies gave data on the mean and standard deviations of plasma or serum homocysteine for both cases and controls, and these studies were included in the meta-analysis. The results of the 5 excluded studies all pointed to a positive relationship...

  10. Genomic analysis of primordial dwarfism reveals novel disease genes.

    Science.gov (United States)

    Shaheen, Ranad; Faqeih, Eissa; Ansari, Shinu; Abdel-Salam, Ghada; Al-Hassnan, Zuhair N; Al-Shidi, Tarfa; Alomar, Rana; Sogaty, Sameera; Alkuraya, Fowzan S

    2014-02-01

    Primordial dwarfism (PD) is a disease in which severely impaired fetal growth persists throughout postnatal development and results in stunted adult size. The condition is highly heterogeneous clinically, but the use of certain phenotypic aspects such as head circumference and facial appearance has proven helpful in defining clinical subgroups. In this study, we present the results of clinical and genomic characterization of 16 new patients in whom a broad definition of PD was used (e.g., 3M syndrome was included). We report a novel PD syndrome with distinct facies in two unrelated patients, each with a different homozygous truncating mutation in CRIPT. Our analysis also reveals, in addition to mutations in known PD disease genes, the first instance of biallelic truncating BRCA2 mutation causing PD with normal bone marrow analysis. In addition, we have identified a novel locus for Seckel syndrome based on a consanguineous multiplex family and identified a homozygous truncating mutation in DNA2 as the likely cause. An additional novel PD disease candidate gene XRCC4 was identified by autozygome/exome analysis, and the knockout mouse phenotype is highly compatible with PD. Thus, we add a number of novel genes to the growing list of PD-linked genes, including one which we show to be linked to a novel PD syndrome with a distinct facial appearance. PD is extremely heterogeneous genetically and clinically, and genomic tools are often required to reach a molecular diagnosis.

  11. Periodontal disease and risk of chronic obstructive pulmonary disease: a meta-analysis of observational studies.

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    Xian-Tao Zeng

    Full Text Available BACKGROUND: Many epidemiological studies have found a positive association between periodontal disease (PD and risk of chronic obstructive pulmonary disease (COPD, but this association is varied and even contradictory among studies. We performed a meta-analysis to ascertain the relationship between PD and COPD. METHODS: PubMed and Embase database were searched up to January 10, 2012, for relevant observational studies on the association between PD and risk of COPD. Data from the studies selected were extracted and analyzed independently by two authors. The meta-analysis was performed using the Comprehensive Meta-Analysis software. RESULTS: Fourteen observational studies (one nested case-control, eight case-control, and five cross-sectional involving 3,988 COPD patients were yielded. Based on random-effects meta-analysis, a significant association between PD and COPD was identified (odds ratio = 2.08, 95% confidence interval = 1.48-2.91; P<0.001, with sensitivity analysis showing that the result was robust. Subgroups analyses according to study design, ethnicity, assessment of PD/COPD, and adjusted/unadjusted odds ratios also revealed a significant association. Publication bias was detected. CONCLUSIONS: Based on current evidence, PD is a significant and independent risk factor of COPD. However, whether a causal relationships exists remains unclear. Morever, we suggest performing randomized controlled trails to explore whether periodontal interventions are beneficial in regulating COPD pathogenesis and progression.

  12. Wilson's disease: an analysis of 28 Brazilian children

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    Kleine, Rodolpho Truffa; Mendes, Renata; Pugliese, Renata; Miura, Irene; Danesi, Vera; Porta, Gilda

    2012-01-01

    OBJECTIVES: Clinical-laboratory and evolutionary analysis of twenty-eight patients with Wilson's disease. METHODS: Twenty-eight children (twelve females and sixteen males) with Wilson's disease were evaluated retrospectively between 1987 and 2009, with a follow-up of 72 months (1 – 240 months). The clinical, laboratory, and histologic features at diagnosis were recorded at the end of the study. RESULTS: The median age at diagnosis was 11 years (2 – 18 years). Twelve patients were asymptomatic, seven had hepatitis symptoms, five had raised aminotransferase levels, three had hepatomegaly associated with neurological disorders, one had fulminant hepatitis with hemolytic anemia, and six patients presented with a Kayser-Fleischer ring. A histological analysis revealed that six children had chronic hepatitis, seven had cirrhosis, two had steatosis, one had portal fibrosis, and one had massive necrosis. The treatment consisted of D-penicillamine associated with pyridoxine for 26 patients. Adverse effects were observed in the other two patients: one presented with uncontrollable vomiting and the other demonstrated elastosis perforans serpiginosa. At the end of the study, all 26 treated patients were asymptomatic. Twenty-four of the patients were treated with D-penicillamine and pyridoxine, and two were treated with trientine and zinc sulfate. A liver transplant was performed in one patient with fulminant hepatitis, but the final patient died 48 hours after admission to the intensive care unit. CONCLUSIONS: Family screenings associated with early treatment are important in preventing Wilson's disease symptoms and potentially fatal disease progression. The study suggests that Wilson's disease must be ruled out in children older than two years presenting with abnormal levels of hepatic enzymes because of the heterogeneity of symptoms and the encouraging treatment results obtained so far. PMID:22473403

  13. Wilson's disease: an analysis of 28 Brazilian children

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    Rodolpho Truffa Kleine

    2012-01-01

    Full Text Available OBJECTIVES: Clinical-laboratory and evolutionary analysis of twenty-eight patients with Wilson's disease. METHODS: Twenty-eight children (twelve females and sixteen males with Wilson's disease were evaluated retrospectively between 1987 and 2009, with a follow-up of 72 months (1 - 240 months. The clinical, laboratory, and histologic features at diagnosis were recorded at the end of the study. RESULTS: The median age at diagnosis was 11 years (2 - 18 years. Twelve patients were asymptomatic, seven had hepatitis symptoms, five had raised aminotransferase levels, three had hepatomegaly associated with neurological disorders, one had fulminant hepatitis with hemolytic anemia, and six patients presented with a Kayser-Fleischer ring. A histological analysis revealed that six children had chronic hepatitis, seven had cirrhosis, two had steatosis, one had portal fibrosis, and one had massive necrosis. The treatment consisted of D-penicillamine associated with pyridoxine for 26 patients. Adverse effects were observed in the other two patients: one presented with uncontrollable vomiting and the other demonstrated elastosis perforans serpiginosa. At the end of the study, all 26 treated patients were asymptomatic. Twenty-four of the patients were treated with D-penicillamine and pyridoxine, and two were treated with trientine and zinc sulfate. A liver transplant was performed in one patient with fulminant hepatitis, but the final patient died 48 hours after admission to the intensive care unit. CONCLUSIONS: Family screenings associated with early treatment are important in preventing Wilson's disease symptoms and potentially fatal disease progression. The study suggests that Wilson's disease must be ruled out in children older than two years presenting with abnormal levels of hepatic enzymes because of the heterogeneity of symptoms and the encouraging treatment results obtained so far.

  14. Functional neuroanatomy of auditory scene analysis in Alzheimer's disease

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    Hannah L. Golden

    2015-01-01

    Full Text Available Auditory scene analysis is a demanding computational process that is performed automatically and efficiently by the healthy brain but vulnerable to the neurodegenerative pathology of Alzheimer's disease. Here we assessed the functional neuroanatomy of auditory scene analysis in Alzheimer's disease using the well-known ‘cocktail party effect’ as a model paradigm whereby stored templates for auditory objects (e.g., hearing one's spoken name are used to segregate auditory ‘foreground’ and ‘background’. Patients with typical amnestic Alzheimer's disease (n = 13 and age-matched healthy individuals (n = 17 underwent functional 3T-MRI using a sparse acquisition protocol with passive listening to auditory stimulus conditions comprising the participant's own name interleaved with or superimposed on multi-talker babble, and spectrally rotated (unrecognisable analogues of these conditions. Name identification (conditions containing the participant's own name contrasted with spectrally rotated analogues produced extensive bilateral activation involving superior temporal cortex in both the AD and healthy control groups, with no significant differences between groups. Auditory object segregation (conditions with interleaved name sounds contrasted with superimposed name sounds produced activation of right posterior superior temporal cortex in both groups, again with no differences between groups. However, the cocktail party effect (interaction of own name identification with auditory object segregation processing produced activation of right supramarginal gyrus in the AD group that was significantly enhanced compared with the healthy control group. The findings delineate an altered functional neuroanatomical profile of auditory scene analysis in Alzheimer's disease that may constitute a novel computational signature of this neurodegenerative pathology.

  15. Prioritisation and network analysis of Crohn's disease susceptibility genes.

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    Daniele Muraro

    Full Text Available Recent Genome-Wide Association Studies (GWAS have revealed numerous Crohn's disease susceptibility genes and a key challenge now is in understanding how risk polymorphisms in associated genes might contribute to development of this disease. For a gene to contribute to disease phenotype, its risk variant will likely adversely communicate with a variety of other gene products to result in dysregulation of common signaling pathways. A vital challenge is to elucidate pathways of potentially greatest influence on pathological behaviour, in a manner recognizing how multiple relevant genes may yield integrative effect. In this work we apply mathematical analysis of networks involving the list of recently described Crohn's susceptibility genes, to prioritise pathways in relation to their potential development of this disease. Prioritisation was performed by applying a text mining and a diffusion based method (GRAIL, GPEC. Prospective biological significance of the resulting prioritised list of proteins is highlighted by changes in their gene expression levels in Crohn's patients intestinal tissue in comparison with healthy donors.

  16. Body mass index in Parkinson's disease: a meta-analysis.

    Science.gov (United States)

    van der Marck, Marjolein A; Dicke, Heleen C; Uc, Ergun Y; Kentin, Zippora H A; Borm, George F; Bloem, Bastiaan R; Overeem, Sebastiaan; Munneke, Marten

    2012-03-01

    Prior work suggested that patients with Parkinson's disease (PD) have a lower Body Mass Index (BMI) than controls, but evidence is inconclusive. We therefore conducted a meta-analysis on BMI in PD. We searched MEDLINE, EMBASE, Cinahl and Scopus to identify cohort studies on BMI in PD, published before February 2011. Studies that reported mean BMI for PD patients and healthy controls were eligible. Twelve studies were included, with a total of 871 patients and 736 controls (in three studies controls consisted of subjects from other published studies). Our primary aim was to assess differences in BMI between patients and controls; this was analyzed with random effects meta-analysis. Our secondary aim was to evaluate the relation with disease severity (Hoehn and Yahr stage) and disease duration, using random effects meta-regression. PD patients had a significantly lower BMI than controls (overall effect 1.73, 95% CI 1.11-2.35, Pnutritional status should be part of PD management.

  17. Quantitative analysis on electrooculography (EOG) for neurodegenerative disease

    Science.gov (United States)

    Liu, Chang-Chia; Chaovalitwongse, W. Art; Pardalos, Panos M.; Seref, Onur; Xanthopoulos, Petros; Sackellares, J. C.; Skidmore, Frank M.

    2007-11-01

    Many studies have documented abnormal horizontal and vertical eye movements in human neurodegenerative disease as well as during altered states of consciousness (including drowsiness and intoxication) in healthy adults. Eye movement measurement may play an important role measuring the progress of neurodegenerative diseases and state of alertness in healthy individuals. There are several techniques for measuring eye movement, Infrared detection technique (IR). Video-oculography (VOG), Scleral eye coil and EOG. Among those available recording techniques, EOG is a major source for monitoring the abnormal eye movement. In this real-time quantitative analysis study, the methods which can capture the characteristic of the eye movement were proposed to accurately categorize the state of neurodegenerative subjects. The EOG recordings were taken while 5 tested subjects were watching a short (>120 s) animation clip. In response to the animated clip the participants executed a number of eye movements, including vertical smooth pursued (SVP), horizontal smooth pursued (HVP) and random saccades (RS). Detection of abnormalities in ocular movement may improve our diagnosis and understanding a neurodegenerative disease and altered states of consciousness. A standard real-time quantitative analysis will improve detection and provide a better understanding of pathology in these disorders.

  18. Immunohistochemical analysis of carbohydrate antigens in chronic inflammatory gastrointestinal diseases.

    Science.gov (United States)

    Kobayashi, Motohiro; Nakayama, Jun

    2010-01-01

    Over the last four decades, immunohistochemistry (IHC) has become an invaluable technique to detect antigens in tissue sections. Compared to Western blotting analysis, IHC is advantageous in determining histological distribution and localization of the antigen. Another advantage, if one can access human formalin-fixed paraffin-embedded (FFPE) blocks of disease tissues, is that IHC makes it possible to analyze diseases retrospectively from archived pathological tissue specimens. In this chapter, we describe protocols used for both conventional and multiple immunostainings using FFPE tissue sections, which have been used for quantitative analysis of high endothelial venule (HEV)-like vessels and lymphocyte subsets attached to HEV-like vessels in our studies of chronic inflammatory gastrointestinal diseases. We also describe in detail a protocol using an L-selectinIgM chimera in situ binding assay on FFPE tissue sections for functional detection of L-selectin ligand carbohydrates expressed on HEV-like vessels. After presenting each protocol, we provide practical examples for its use obtained from our studies.

  19. Tract specific analysis in patients with sickle cell disease

    Science.gov (United States)

    Chai, Yaqiong; Coloigner, Julie; Qu, Xiaoping; Choi, Soyoung; Bush, Adam; Borzage, Matt; Vu, Chau; Lepore, Natasha; Wood, John

    2015-12-01

    Sickle cell disease (SCD) is a hereditary blood disorder in which the oxygen-carrying hemoglobin molecule in red blood cells is abnormal. It affects numerous people in the world and leads to a shorter life span, pain, anemia, serious infections and neurocognitive decline. Tract-Specific Analysis (TSA) is a statistical method to evaluate white matter alterations due to neurocognitive diseases, using diffusion tensor magnetic resonance images. Here, for the first time, TSA is used to compare 11 major brain white matter (WM) tracts between SCD patients and age-matched healthy subjects. Alterations are found in the corpus callosum (CC), the cortico-spinal tract (CST), inferior fronto-occipital fasciculus (IFO), inferior longitudinal fasciculus (ILF), superior longitudinal fasciculus (SLF), and uncinated fasciculus (UNC). Based on previous studies on the neurocognitive functions of these tracts, the significant areas found in this paper might be related to several cognitive impairments and depression, both of which are observed in SCD patients.

  20. Meta-analysis of Creatine for neuroprotection against Parkinson's disease.

    Science.gov (United States)

    Attia, Attia; Ahmed, Hussien; Gadelkarim, Mohamed; Morsi, Mahmoud; Awad, Kamal; Elnenny, Mohamed; Ghanem, Esraa; El-Jafaary, Shaimaa; Negida, Ahmed

    2016-11-04

    Background Creatine is an antioxidant agent that showed neuroprotective effects in animal models of Parkinson's disease (PD). Creatine was selected by the National Institute of Neurological Disorders and Stroke as a possible disease modifying agent for Parkinson's disease. Therefore, many clinical trials evaluated the efficacy of creatine for patients with PD. The aim of this systematic review and meta-analysis is to synthesize evidence from published randomized controlled trials (RCTs) about the efficacy of Creatine for patients with PD. Methods We followed PRISMA statement guidelines during the preparation of this systematic review and meta-analysis. A computer literature search for PubMed, EBSCO, web of science and Ovid Midline was carried out. We included RCTs comparing creatine with placebo in terms of motor functions and quality of life. Outcomes of total Unified Parkinson's Disease Rating Scale (UPDRS), UPDRS I, UPDRS II, and UPDRS III were pooled as mean difference (MD) between two groups from baseline to the endpoint. Statistical heterogeneity was assessed by visual inspection of the forest plot and measured by chi-square and I square tests. Results Three RCTs (n=1935) were included in this study. The overall effect did not favor either of the two groups in terms of: UPDRS total score (MD 1.07, 95% CI [3.38 to 1.25], UPDRS III (MD 0.62, 95% CI [2.27 to 1.02]), UPDRS II (MD 0.03, 95% CI [0.81 to 0.86], or UPDRS I (MD 0.03, 95% CI [0.33 to 0.28]). Conclusion Current evidence does not support the use of creatine for neuroprotection against PD. Future well-designed, randomized controlled trials are needed.

  1. [Structure analysis of disease-related proteins using vibrational spectroscopy].

    Science.gov (United States)

    Hiramatsu, Hirotsugu

    2014-01-01

    Analyses of the structure and properties of identified pathogenic proteins are important for elucidating the molecular basis of diseases and in drug discovery research. Vibrational spectroscopy has advantages over other techniques in terms of sensitivity of detection of structural changes. Spectral analysis, however, is complicated because the spectrum involves a substantial amount of information. This article includes examples of structural analysis of disease-related proteins using vibrational spectroscopy in combination with additional techniques that facilitate data acquisition and analysis. Residue-specific conformation analysis of an amyloid fibril was conducted using IR absorption spectroscopy in combination with (13)C-isotope labeling, linear dichroism measurement, and analysis of amide I band features. We reveal a pH-dependent property of the interacting segment of an amyloidogenic protein, β2-microglobulin, which causes dialysis-related amyloidosis. We also reveal the molecular mechanisms underlying pH-dependent sugar-binding activity of human galectin-1, which is involved in cell adhesion, using spectroscopic techniques including UV resonance Raman spectroscopy. The decreased activity at acidic pH was attributed to a conformational change in the sugar-binding pocket caused by protonation of His52 (pKa 6.3) and the cation-π interaction between Trp68 and the protonated His44 (pKa 5.7). In addition, we show that the peak positions of the Raman bands of the C4=C5 stretching mode at approximately 1600 cm(-1) and the Nπ-C2-Nτ bending mode at approximately 1405 cm(-1) serve as markers of the His side-chain structure. The Raman signal was enhanced 12 fold using a vertical flow apparatus.

  2. [Marijuana, health, disease, and freedom: analysis of an Internet forum].

    Science.gov (United States)

    Lefèvre, F; Simioni, A M

    1999-11-01

    This paper takes a Health Education perspective to analyze a debate forum on the Brazilian Internet site entitled "Universo On-Line", in which the following questions were addressed: "Do you believe that marijuana is harmful to one's health?" "In your opinion, should marijuana use be decriminalized?" By applying qualitative discourse analysis techniques to responses from the forum, we were able to identify six main types of discourse, reflecting the opinions of six "collective subjects" concerning drugs, health, disease, and freedom and existing as social representations in the current Brazilian collective imagination. Research on these social representations allows one to establish criteria for intervention in the field of Health Education.

  3. Microprobe PIXE analysis and EDX analysis on the brain of patients with Alzheimer`s disease

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    Yumoto, S. [Tokyo Univ. (Japan). Faculty of Medicine; Horino, Y.; Mokuno, Y.; Fujii, K.; Kakimi, S.; Mizutani, T.; Matsushima, H.; Ishikawa, A.

    1996-12-31

    To investigate the cause of Alzheimer`s disease (senile dementia of Alzheimer`s disease type), we examined aluminium (Al) in the brain (hippocampus) of patients with Alzheimer`s disease using heavy ion (5 MeV Si{sup 3+}) microprobe particle-induced X-ray emission (PIXE) analysis. Heavy ion microprobes (3 MeV Si{sup 2+}) have several times higher sensitivity for Al detection than 2 MeV proton microprobes. We also examined Al in the brain of these patients by energy dispersive X-ray spectroscopy (EDX). (1) Al was detected in the cell nuclei isolated from the brain of patients with Alzheimer`s disease using 5 MeV Si{sup 3+} microprobe PIXE analysis, and EDX analysis. (2) EDX analysis demonstrated high levels of Al in the nucleolus of nerve cells in frozen sections prepared from the brain of these patients. Our results support the theory that Alzheimer`s disease is caused by accumulation of Al in the nuclei of brain cells. (author)

  4. A Neurodegenerative Disease Sleep Questionnaire: principal component analysis in Parkinson's disease.

    Science.gov (United States)

    Scullin, Michael K; Harrison, Tyler L; Factor, Stewart A; Bliwise, Donald L

    2014-01-15

    Sleep disturbances are common in many neurodegenerative diseases and may include altered sleep duration, fragmented sleep, nocturia, excessive daytime sleepiness, and vivid dreaming experiences, with occasional parasomnias. Although representing the "gold standard," polysomnography is not always cost-effective or available for measuring sleep disturbance, particularly for screening. Although numerous sleep-related questionnaires exist, many focus on a specific sleep disturbance (e.g., restless legs, REM Behavior Disorder) and do not capture efficiently the variety of sleep issues experienced by such patients. We administered the 12-item Neurodegenerative Disease Sleep Questionnaire (NDSQ) and the Epworth Sleepiness Scale to 145 idiopathic Parkinson's disease patients. Principal component analysis using eigenvalues greater than 1 suggested five separate components: sleep quality (e.g., sleep fragmentation), nocturia, vivid dreams/nightmares, restless legs symptoms, and sleep-disordered breathing. These results demonstrate construct validity of our sleep questionnaire and suggest that the NDSQ may be a useful screening tool for sleep disturbances in at least some types of neurodegenerative disorders.

  5. A cross-study transcriptional analysis of Parkinson's disease.

    Directory of Open Access Journals (Sweden)

    Greg T Sutherland

    Full Text Available The study of Parkinson's disease (PD, like other complex neurodegenerative disorders, is limited by access to brain tissue from patients with a confirmed diagnosis. Alternatively the study of peripheral tissues may offer some insight into the molecular basis of disease susceptibility and progression, but this approach still relies on brain tissue to benchmark relevant molecular changes against. Several studies have reported whole-genome expression profiling in post-mortem brain but reported concordance between these analyses is lacking. Here we apply a standardised pathway analysis to seven independent case-control studies, and demonstrate increased concordance between data sets. Moreover data convergence increased when the analysis was limited to the five substantia nigra (SN data sets; this highlighted the down regulation of dopamine receptor signaling and insulin-like growth factor 1 (IGF1 signaling pathways. We also show that case-control comparisons of affected post mortem brain tissue are more likely to reflect terminal cytoarchitectural differences rather than primary pathogenic mechanisms. The implementation of a correction factor for dopaminergic neuronal loss predictably resulted in the loss of significance of the dopamine signaling pathway while axon guidance pathways increased in significance. Interestingly the IGF1 signaling pathway was also over-represented when data from non-SN areas, unaffected or only terminally affected in PD, were considered. Our findings suggest that there is greater concordance in PD whole-genome expression profiling when standardised pathway membership rather than ranked gene list is used for comparison.

  6. How expensive is inflammatory bowel disease? A critical analysis

    Institute of Scientific and Technical Information of China (English)

    Selwvn Odes

    2008-01-01

    Economic analysis of chronic diseases is required for proper allocation of resources and understanding costeffectiveness studies of new therapies.Studies on health care cost of ulcerative colitis (UC) and Crohn's disease (CD) are reviewed here.These studies were carried out in various countries with disparate health care systems.In the United States,data were of ten modeled or retrieved from large insurance schemes.Surgery and in-patient hospitalization accounted for over half the outlay on UC and CD.Fistulous disease in CD and parenteral nutrition were very costly.In Canada,overall charges were lower than in the United States,but there too,surgical costs were relatively high.In European studies,economic data were abstracted directly from patients' files.One pan-European study examined the outlay on UC and CD in a community-based prospective inception cohort followed for 10 years.Overall costs in Europe were lower than in the United States.Surgery,hospitalization,year of follow-up,disease phenotype in CD and ASCA-positivity impacted significantly on costs.In all studies,the cost data were right skewed,aminosalicylates were expensive drugs,and biological agents the most expensive; moreover indirect costs were not calculated.Infliximab raised costs considerably in CD,but there were no long-term followup studies,so that the cost-benefit of biological agents remains unknown.In conclusion,costs of managing UC and CD vary by country,surgery,genotype and several other factors.The most important question for further research is whether the biological therapies are cost-effective in the long-term.

  7. Cross-View Neuroimage Pattern Analysis for Alzheimer's Disease Staging

    Directory of Open Access Journals (Sweden)

    Sidong eLiu

    2016-02-01

    Full Text Available The research on staging of pre-symptomatic and prodromal phase of neurological disorders, e.g., Alzheimer's disease (AD, is essential for prevention of dementia. New strategies for AD staging with a focus on early detection, are demanded to optimize potential efficacy of disease-modifying therapies that can halt or slow the disease progression. Recently, neuroimaging are increasingly used as additional research-based markers to detect AD onset and predict conversion of MCI and normal control (NC to AD. Researchers have proposed a variety of neuroimaging biomarkers to characterize the patterns of the pathology of AD and MCI, and suggested that multi-view neuroimaging biomarkers could lead to better performance than single-view biomarkers in AD staging. However, it is still unclear what leads to such synergy and how to preserve or maximize. In an attempt to answer these questions, we proposed a cross-view pattern analysis framework for investigating the synergy between different neuroimaging biomarkers. We quantitatively analyzed 9 types of biomarkers derived from FDG-PET and T1-MRI, and evaluated their performance in a task of classifying AD, MCI and NC subjects obtained from the ADNI baseline cohort. The experiment results showed that these biomarkers could depict the pathology of AD from different perspectives, and output distinct patterns that are significantly associated with the disease progression. Most importantly, we found that these features could be separated into clusters, each depicting a particular aspect; and the inter-cluster features could always achieve better performance than the intra-cluster features in AD staging.

  8. Morphometric analysis of collagen and inflammatory cells in periodontal disease

    Directory of Open Access Journals (Sweden)

    Golijanin Ranko

    2015-01-01

    Full Text Available Background/Aim. Periodontal disease affects gingival tissue and supporting apparatus of the teeth leading to its decay. The aim of this study was to highlight and precisely determine histological changes in the gum tissue. Methods. Gingival biopsy samples from 53 healthy and parodontopathy-affected patients were used. Clinical staging of the disease was performed. Tissue specimens were fixed and routinely processed. Sections, 5 μm thin, were stained with hematoxylin and eosin, histochemical Van-Gieson for the collagen content, Spicer method for mast-cells and immunochemical method with anti-CD68 and anti-CD38 for the labelling of the macrophages and plasma-cells. Morphometric analysis was performed by a M42 test system. Results. While the disease advanced, collagen and fibroblast volume density decreased almost twice in the severe cases compared to the control ones, but a significant variation was observed within the investigated groups. The mast-cell number increased nearly two times, while the macrophage content was up to three times higher in severe parodontopathy than in healthy gingival tissue. However, the relative proportion of these cells stayed around 6% in all cases. Plasma-cells had the most prominent increase in the number (over 8 times compared to the control, but again, a variation within investigated groups was very high. Conclusion. Gingival tissue destruction caused by inflammatory process leads to significant changes in collagen density and population of resident connective tissue cells. Although inflammatory cells dominated with the disease advancing, a high variation within the same investigated groups suggests fluctuation of the pathological process.

  9. Gait analysis in a mouse model resembling Leigh disease.

    Science.gov (United States)

    de Haas, Ria; Russel, Frans G; Smeitink, Jan A

    2016-01-01

    Leigh disease (LD) is one of the clinical phenotypes of mitochondrial OXPHOS disorders and also known as sub-acute necrotizing encephalomyelopathy. The disease has an incidence of 1 in 77,000 live births. Symptoms typically begin early in life and prognosis for LD patients is poor. Currently, no clinically effective treatments are available. Suitable animal and cellular models are necessary for the understanding of the neuropathology and the development of successful new therapeutic strategies. In this study we used the Ndufs4 knockout (Ndufs4(-/-)) mouse, a model of mitochondrial complex I deficiency. Ndusf4(-/-) mice exhibit progressive neurodegeneration, which closely resemble the human LD phenotype. When dissecting behavioral abnormalities in animal models it is of great importance to apply translational tools that are clinically relevant. To distinguish gait abnormalities in patients, simple walking tests can be assessed, but in animals this is not easy. This study is the first to demonstrate automated CatWalk gait analysis in the Ndufs4(-/-) mouse model. Marked differences were noted between Ndufs4(-/-) and control mice in dynamic, static, coordination and support parameters. Variation of walking speed was significantly increased in Ndufs4(-/-) mice, suggesting hampered and uncoordinated gait. Furthermore, decreased regularity index, increased base of support and changes in support were noted in the Ndufs4(-/-) mice. Here, we report the ability of the CatWalk system to sensitively assess gait abnormalities in Ndufs4(-/-) mice. This objective gait analysis can be of great value for intervention and drug efficacy studies in animal models for mitochondrial disease.

  10. Proteomic analysis of the cerebrospinal fluid of Parkinson's disease patients

    Institute of Scientific and Technical Information of China (English)

    Jiguang Guo; Zhongwu Sun; Shifu Xiao; Dongping Liu; Guohua Jin; Ersong Wang; Jiangning Zhou; Jiawei Zhou

    2009-01-01

    @@ Dear Editor, Parkinson's disease (PD) is the second most common neurodegenerative disease after Alzheimer's disease (AD). Although treatments for PD may be beneficial in the early stages of disease, accurate diagnosis during these stages remains a challenge. An ideal diagnosis for PD should be highly specific and sensitive, as well as be able to predict disease progression.

  11. Gallstone Disease and the Risk of Cardiovascular Disease: A Systematic Review and Meta-Analysis of Observational Studies.

    Science.gov (United States)

    Upala, S; Sanguankeo, A; Jaruvongvanich, V

    2017-03-01

    Gallstone disease shares certain risk factors with cardiovascular disease, particularly metabolic risk factors. Patients with gallstone disease may be at increased risk of cardiovascular disease. Several recent studies exploring the effect of gallstone disease on cardiovascular disease outcomes demonstrated inconsistent results. We conducted a systematic review and meta-analysis of cohort, case-control, and cross-sectional studies that compared the risk of developing cardiovascular disease events in patients with gallstone disease versus non-gallstone disease controls. Data from each study were combined using the random-effects, generic inverse variance method of DerSimonian and Laird to calculate the pooled hazard ratio, odd ratio, and 95% confidence interval. Data were extracted from six studies involving 176,734 cases and 803,714 controls. The pooled hazard ratio of cardiovascular events in patients with gallstone disease was 1.28 (95% confidence interval: 1.23-1.33, I(2) = 42%). The pooled odd ratio of cardiovascular events in patients with gallstone disease was 1.82 (95% confidence interval: 1.47-2.24, I(2) = 68%). Our study demonstrated a statistically significant increase in the risk of cardiovascular disease among patients with gallstone disease.

  12. Nanoscale Extracellular Vesicle Analysis in Alzheimer's Disease Diagnosis and Therapy

    Science.gov (United States)

    Heinzelman, Pete; Bilousova, Tina; Campagna, Jesus; John, Varghese

    2016-01-01

    Diagnostic assays that leverage bloodborne neuron-derived (neuronal) nanoscale extracellular vesicles (nsEVs) as “windows into the brain” can predict incidence of Alzheimer's Disease (AD) many years prior to onset. Beyond diagnostics, bloodborne neuronal nsEVs analysis may have substantial translational impact by revealing mechanisms of AD pathology; such knowledge could enlighten new drug targets and lead to new therapeutic approaches. The potential to establish three-dimensional nsEV analysis methods that characterize highly purified bloodborne nsEV populations in method of enrichment, cell type origin, and protein or RNA abundance dimensions could bring this promise to bear by yielding nsEV “omics” datasets that uncover new AD biomarkers and enable AD therapeutic development. In this review we provide a survey of both the current status of and new developments on the horizon in the field of neuronal nsEV analysis. This survey is supplemented by a discussion of the potential to translate such neuronal nsEV analyses to AD clinical diagnostic applications and drug development. PMID:27213078

  13. [IT15 gene analysis in two pedigrees of Huntington's disease].

    Science.gov (United States)

    Zhang, Bao-Rong; Song, Fei; Yin, Xin-Zhen; Xia, Kun; Tian, Jun; Huang, Jian-Zheng; Xia, Jia-Hui

    2006-11-01

    To investigate the relationship between the clinical features and (CAG)n trinucleotide repeats in two pedigrees of Chinese Huntington's disease (HD). Clinical and neuroimaging features, the age of disease onset and pattern of transmission of the patients were studied in the two pedigrees of HD. Genomic DNA of 42 family members was used for amplification of the (CAG)n repeats of IT15 gene by PCR. The numbers of (CAG)n were determined by electrophoresis through a 6% polyacrylamide gel and direct sequence analysis. Results showed that patients in pedigree 1 were absent of the typical triad of HD symptoms or caudate atrophy. A total of 9 (5 patients and 4 asymptomatic) out of 18 family members had 40-50 (CAG)n repeats in the IT15 gene. In pedigree 2, all the patients were characterized by a triad of symptoms, including motor disturbance, cognitive impairment and psychiatric features. Three patients and two asymptomatic relatives had more than 50 (CAG)n repeats in the IT15 gene. In conclusion, the clinical symptoms are partly determined by (CAG)n repeats in the IT15 gene. The age of onset was correlated with (CAG)n repeats over 50, and the phenomenon called "anticipation" was found to have played a role.

  14. Plasmin system of Alzheimer's disease patients: CSF analysis.

    Science.gov (United States)

    Martorana, Alessandro; Sancesario, Giulia M; Esposito, Zaira; Nuccetelli, Marzia; Sorge, Roberto; Formosa, Amanda; Dinallo, Vincenzo; Bernardi, Giorgio; Bernardini, Sergio; Sancesario, Giuseppe

    2012-07-01

    Alzheimer's disease (AD) is a multifactorial neurodegenerative disorder characterized by the extracellular deposit of Amyloid beta (Aβ), mainly of the Amyloid beta(1-42) (Aβ(1-42)) peptide in the hippocampus and neocortex leading to progressive cognitive decline and dementia. The possible imbalance between the Aβ production/degradation process was suggested to contribute to the pathogenesis of AD. Among others, the serine protease plasmin has shown to be involved in Aβ(1-42) clearance, a hypothesis strengthened by neuropathological studies on AD brains. To explore whether there is a change in plasmin system in CSF of AD patients, we analyzed CSF samples from AD and age-matched controls, looking at plasminogen, tissue plasminogen activator (t-PA) and plasminogen activator inhibitor (PAI-1) protein levels and t-PA and urokinase plasminogen activator (u-PA) enzymatic activities. We also measured Aβ(1-42), total-tau and phospho-tau (181) CSF levels and sought for a possible relationship between them and plasmin system values. Our findings showed that t-PA, plasminogen and PAI-1 levels, as t-PA enzymatic activity, remained unchanged in AD with respect to controls; u-PA activity was not detected. We conclude that CSF analysis of plasminogen system does not reflect changes observed post-mortem. Unfortunately, the CSF detection of plasmin system could not be a useful biomarker for either AD diagnosis or disease progression. However, these findings do not exclude the possible involvement of the plasmin system in AD.

  15. Analysis of the dengue disease model with two virus strains

    Science.gov (United States)

    Adi-Kusumo, F.; Aini, A. N.; Ridwan, M.

    2014-02-01

    Dengue fever (DF) and dengue haemorrhagic fever (DHF) are the disease caused by the dengue virus which is transmitted to the human by infected female mosquitoes. The disease is endemic in more than 100 countries over the world. Dengue virus has four distinct serotypes which are closely related to each other antigenically. A person who infected by the dengue virus will never be infected again by the same serotype, but he looses immunity from the three other serotypes. Infection with one serotype does not provide cross-protective immunity against to others. Here we assume that there are two serotypes exist in the population. Someone who has recovered from one serotype become susceptible to the other serotype and can be reinfected. In this paper we analyze the model of dengue fever with two infections from the different serotype by linear analysis. Then we study the effect of vaccination to the model. In numerical simulation, we use Runge-Kutta order 4 to integrate the solution of the system.

  16. Cost-effectiveness analysis in Chagas' disease vectors control interventions

    Directory of Open Access Journals (Sweden)

    A. M. Oliveira Filho

    1989-01-01

    Full Text Available After a large scale field trial performed in central Brazil envisaging the control of Chagas' disease vectors in an endemic area colonized by Triatoma infestans and T. sordida the cost-effectiveness analysis for each insecticide/formulation was performed. It considered the operational costs and the prices of insecticides and formulations, related to the activity and persistence of each one. The end point was considered to be less than 90% of domicilliary unitis (house + annexes free of infestation. The results showed good cost-effectiveness for a slow-release emulsifiable suspension (SRES based on PVA and containing malathion as active ingredient, as well as for the pyrethroids tested in this assay-cyfluthrin, cypermethrin, deltamethrin and permethrin.

  17. [Disease management programs: Difficulties in the analysis of benefit].

    Science.gov (United States)

    Linder, Roland; Horenkamp-Sonntag, D; Bestmann, B; Battmer, U; Heilmann, T; Verheyen, F

    2015-04-01

    After an introduction to the theme with an overview of the implementation of the Disease Management Programs (DMP), accompanying documentation, present utilization and costs of the programs, the present article is primarily devoted to the issue of the analysis of the benefits of DMP. Following an assessment of the legally specified evaluation requirements, in the absence of a prospective, randomized, controlled trial (RCT), the results of three studies are first summarized, which, with the application of propensity score matching, utilize the routine data of the statutory health insurance schemes to form a control group. The overview concludes with a look at the planned changes in evaluation and the intended expansion of the DMP to programs for other chronic illnesses.

  18. Analysis of biological processes and diseases using text mining approaches.

    Science.gov (United States)

    Krallinger, Martin; Leitner, Florian; Valencia, Alfonso

    2010-01-01

    A number of biomedical text mining systems have been developed to extract biologically relevant information directly from the literature, complementing bioinformatics methods in the analysis of experimentally generated data. We provide a short overview of the general characteristics of natural language data, existing biomedical literature databases, and lexical resources relevant in the context of biomedical text mining. A selected number of practically useful systems are introduced together with the type of user queries supported and the results they generate. The extraction of biological relationships, such as protein-protein interactions as well as metabolic and signaling pathways using information extraction systems, will be discussed through example cases of cancer-relevant proteins. Basic strategies for detecting associations of genes to diseases together with literature mining of mutations, SNPs, and epigenetic information (methylation) are described. We provide an overview of disease-centric and gene-centric literature mining methods for linking genes to phenotypic and genotypic aspects. Moreover, we discuss recent efforts for finding biomarkers through text mining and for gene list analysis and prioritization. Some relevant issues for implementing a customized biomedical text mining system will be pointed out. To demonstrate the usefulness of literature mining for the molecular oncology domain, we implemented two cancer-related applications. The first tool consists of a literature mining system for retrieving human mutations together with supporting articles. Specific gene mutations are linked to a set of predefined cancer types. The second application consists of a text categorization system supporting breast cancer-specific literature search and document-based breast cancer gene ranking. Future trends in text mining emphasize the importance of community efforts such as the BioCreative challenge for the development and integration of multiple systems into

  19. A Meta-Analysis on Prehypertension and Chronic Kidney Disease.

    Directory of Open Access Journals (Sweden)

    Yang Li

    Full Text Available Recent studies have demonstrated that there is an association between prehypertension and an increased risk of end-stage renal disease. However, there is conflicting evidence regarding the relationship between prehypertension and chronic kidney disease (CKD. This meta-analysis aimed to demonstrate the association between prehypertension and the incidence of CKD and identify the impacts of gender and ethnic differences.MEDLINE, EMBASE, Cochrane Library (from inception through March 2016 and article reference lists were searched for relevant studies regarding blood pressure and CKD. Blood pressure (BP measurements were classified as follows: optimal BP (less than 120/80 mmHg, prehypertension (120-139/80-89 mmHg and hypertension (over 140/90 mmHg. CKD was defined by estimated glomerular filtration rate (eGFR<60 ml/min/1.73 m2 or proteinuria. Two investigators independently extracted the data and assessed the quality of studies enrolled in this meta-analysis using the Newcastle-Ottawa Scale (NOS. We performed the meta-analysis using Stata/SE 12.0 (StataCorp LP. The random-effect models were used in the heterogeneous analyses.After retrieving data from 4,537 potentially relevant articles, we identified 7 cohort studies including 261,264 subjects, according to the predefined selection criteria. Five studies were conducted in Mongolians from East Asia, and the other two studies were performed in Indo-Europeans from Austria and Iran. The participants ranged in age from 20 to 89 years, and the proportion of females ranged from 27.2% to 63.8%. The follow-up period ranged from 2 to 11 years. Compared with the optimal BP values, prehypertension showed an increased risk of CKD (pooled RR = 1.28; 95% CI = 1.13-1.44; P = 0.000; I2 = 77.9%. In the sex-stratified analysis, we found a similar trend in women (pooled RR = 1.29; 95% CI = 1.01-1.63; P = 0.039; I2 = 76.1% but not in men. This effect was observed only in Mongolians from East Asia (pooled RR = 1.37; 95

  20. Predicting cognitive decline in Alzheimer's disease: an integrated analysis

    DEFF Research Database (Denmark)

    Lopez, Oscar L; Schwam, Elias; Cummings, Jeffrey

    2010-01-01

    Numerous patient- and disease-related factors increase the risk of rapid cognitive decline in patients with Alzheimer's disease (AD). The ability of pharmacological treatment to attenuate this risk remains undefined.......Numerous patient- and disease-related factors increase the risk of rapid cognitive decline in patients with Alzheimer's disease (AD). The ability of pharmacological treatment to attenuate this risk remains undefined....

  1. Predicting cognitive decline in Alzheimer's disease: an integrated analysis

    DEFF Research Database (Denmark)

    Lopez, Oscar L; Schwam, Elias; Cummings, Jeffrey

    2010-01-01

    Numerous patient- and disease-related factors increase the risk of rapid cognitive decline in patients with Alzheimer's disease (AD). The ability of pharmacological treatment to attenuate this risk remains undefined.......Numerous patient- and disease-related factors increase the risk of rapid cognitive decline in patients with Alzheimer's disease (AD). The ability of pharmacological treatment to attenuate this risk remains undefined....

  2. Analysis of clinical and biochemical spectrum of Wilson Disease patients

    Directory of Open Access Journals (Sweden)

    Sumreena Mansoor

    2012-01-01

    biochemical analysis in cases of patients with unexplained liver disease with high degree of suspicion can lead to early treatment with good outcome.

  3. Whole Exome Analysis of Early Onset Alzheimer’s Disease

    Science.gov (United States)

    2017-04-01

    focus toward identification of Alzheimer disease (AD) risk genes over the past five years has been testing the common disease common variant (CDCV...hypothesis through the use of genome-wide association studies (GWAS) in late onset Alzheimer disease (LOAD). While common variation clearly plays a role...12-25 4 INTRODUCTION: The primary focus in the identification of Alzheimer disease (AD) risk genes has focused on the common disease

  4. Complexity Analysis of Electroencephalogram Dynamics in Patients with Parkinson's Disease.

    Science.gov (United States)

    Liu, Guotao; Zhang, Yanping; Hu, Zhenghui; Du, Xiuquan; Wu, Wanqing; Xu, Chenchu; Wang, Xiangyang; Li, Shuo

    2017-01-01

    In this study, a new combination scheme has been proposed for detecting Parkinson's disease (PD) from electroencephalogram (EEG) signal recorded from normal subjects and PD patients. The scheme is based on discrete wavelet transform (DWT), sample entropy (SampEn), and the three-way decision model in analysis of EEG signal. The EEG signal is noisy and nonstationary, and, as a consequence, it becomes difficult to distinguish it visually. However, the scheme is a well-established methodology in analysis of EEG signal in three stages. In the first stage, the DWT was applied to acquire the split frequency information; here, we use three-level DWT to decompose EEG signal into approximation and detail coefficients; in this stage, we aim to remove the useless and noise information and acquire the effective information. In the second stage, as the SampEn has advantage in analyzing the EEG signal, we use the approximation coefficient to compute the SampEn values. Finally, we detect the PD patients using three-way decision based on optimal center constructive covering algorithm (O_CCA) with the accuracy about 92.86%. Without DWT as preprocessing step, the detection rate reduces to 88.10%. Overall, the combination scheme we proposed is suitable and efficient in analyzing the EEG signal with higher accuracy.

  5. Systemic Analysis of Foodborne Disease Outbreak in Korea.

    Science.gov (United States)

    Lee, Jong-Kyung; Kwak, No-Seong; Kim, Hyun Jung

    2016-02-01

    This study systemically analyzed data on the prevalence of foodborne pathogens and foodborne disease outbreaks to identify the priorities of foodborne infection risk management in Korea. Multiple correspondence analysis was applied to three variables: origin of food source, phase of food supply chain, and 12 pathogens using 358 cases from 76 original papers and official reports published in 1998-2012. In addition, correspondence analysis of two variables--place and pathogen--was conducted based on epidemiological data of 2357 foodborne outbreaks in 2002-2011 provided by the Korean Ministry of Food and Drug Safety. The results of this study revealed three distinct areas of food monitoring: (1) livestock-derived raw food contaminated with Campylobacter spp., pathogenic Escherichia coli, Salmonella spp., and Listeria monocytogenes; (2) multi-ingredient and ready-to-eat food related to Staphylococcus aureus; and (3) water associated with norovirus. Our findings emphasize the need to track the sources and contamination pathways of foodborne pathogens for more effective risk management.

  6. Complexity Analysis of Electroencephalogram Dynamics in Patients with Parkinson's Disease

    Science.gov (United States)

    Liu, Guotao; Zhang, Yanping; Hu, Zhenghui; Xu, Chenchu; Wang, Xiangyang; Li, Shuo

    2017-01-01

    In this study, a new combination scheme has been proposed for detecting Parkinson's disease (PD) from electroencephalogram (EEG) signal recorded from normal subjects and PD patients. The scheme is based on discrete wavelet transform (DWT), sample entropy (SampEn), and the three-way decision model in analysis of EEG signal. The EEG signal is noisy and nonstationary, and, as a consequence, it becomes difficult to distinguish it visually. However, the scheme is a well-established methodology in analysis of EEG signal in three stages. In the first stage, the DWT was applied to acquire the split frequency information; here, we use three-level DWT to decompose EEG signal into approximation and detail coefficients; in this stage, we aim to remove the useless and noise information and acquire the effective information. In the second stage, as the SampEn has advantage in analyzing the EEG signal, we use the approximation coefficient to compute the SampEn values. Finally, we detect the PD patients using three-way decision based on optimal center constructive covering algorithm (O_CCA) with the accuracy about 92.86%. Without DWT as preprocessing step, the detection rate reduces to 88.10%. Overall, the combination scheme we proposed is suitable and efficient in analyzing the EEG signal with higher accuracy. PMID:28316861

  7. Evaluating disease management program effectiveness: an introduction to survival analysis.

    Science.gov (United States)

    Linden, Ariel; Adams, John L; Roberts, Nancy

    2004-01-01

    Currently, the most widely used method in the disease management industry for evaluating program effectiveness is the "total population approach." This model is a pretest-posttest design, with the most basic limitation being that without a control group, there may be sources of bias and/or competing extraneous confounding factors that offer plausible rationale explaining the change from baseline. Survival analysis allows for the inclusion of data from censored cases, those subjects who either "survived" the program without experiencing the event (e.g., achievement of target clinical levels, hospitalization) or left the program prematurely, due to disenrollement from the health plan or program, or were lost to follow-up. Additionally, independent variables may be included in the model to help explain the variability in the outcome measure. In order to maximize the potential of this statistical method, validity of the model and research design must be assured. This paper reviews survival analysis as an alternative, and more appropriate, approach to evaluating DM program effectiveness than the current total population approach.

  8. Retrospective analysis of Newcastle disease diagnosed at the ...

    African Journals Online (AJOL)

    ADEYEYE

    2015-10-22

    Oct 22, 2015 ... Newcastle disease (ND) is a highly contagious viral disease of domestic and wild birds with devastating impact on poultry ... mild live virus vaccines known as the Hitchner B1 ..... environmental temperature can inactivate the.

  9. A Clinical Analysis of 293 FUO Patients, A Diagnostic Model Discriminating infectious Diseases from Non-infectious Diseases

    Institute of Scientific and Technical Information of China (English)

    2014-01-01

    Objective A diagnostic model was established to discriminate infectious diseases from non-infectious diseases. Methods The clinical data of patients with fever of unknown origin (FUO) hospitalized in Xiangya Hospital Central South University, from January, 2006 to April, 2011 were retrospectively analyzed. Patients enrolled were divided into two groups. The ifrst group was used to develop a diagnostic model: independent variables were recorded and considered in a logistic regression analysis to identify infectious and non-infectious diseases (αin= 0.05, αout= 0.10). The second group was used to evaluate the diagnostic model and make ROC analysis. Results The diagnostic rate of 143 patients in the ifrst group was 87.4%, the diagnosis included infectious disease (52.4%), connective tissue diseases (16.8%), neoplastic disease (16.1%) and miscellaneous (2.1%). The diagnostic rate of 168 patients in the second group was 88.4%, and the diagnosis was similar to the ifrst group. Logistic regression analysis showed that decreased white blood cell count (WBC 320 U/L) and lymphadenectasis were independent risk factors associated with non-infectious diseases. The odds ratios were 14.74, 5.84 and 5.11 (P≤ 0.01) , respectively. In ROC analysis, the sensitivity and speciifcity of the positive predictive values was 62.1% and 89.1%, respectively, while that of negative predicting values were 75% and 81.7%, respectively (AUC = 0.76,P = 0.00). Conclusions The combination of WBC 320 U/L and lymphadenectasis may be useful in discriminating infectious diseases from non-infectious diseases in patients hospitalized as FUO.

  10. Hospitalization for pelvic inflammatory disease: a cost-effectiveness analysis.

    Science.gov (United States)

    Smith, Kenneth J; Ness, Roberta B; Roberts, Mark S

    2007-02-01

    Nulliparous women are frequently hospitalized for treatment of pelvic inflammatory disease (PID). The goal of this study was to determine the economic feasibility of hospitalizing adolescents and young women for PID. The authors conducted a Markov decision model, estimating the cost-effectiveness of hospitalization compared with outpatient therapy for mild to moderate PID for adolescents and young women, calculating costs per quality-adjusted life-year (QALY) gained under various assumptions about hospitalization effects on complications. If hospitalization decreases PID complications by 10%, 20%, or 30%, the cost/QALY gained is 145,000 dollars, 67,400 dollars, or 42,400 dollars, respectively, compared with outpatient therapy. Assumptions about hospitalization effects on the development of chronic pelvic pain heavily weight the analysis; costs/QALY gained by hospitalization increase considerably if chronic pain is unaffected. Hospitalization for PID treatment to possibly preserve fertility in nulliparous young women and adolescents is unlikely to be economically reasonable even if substantial improvements in PID complication rates are assumed.

  11. Bacterial infection and Alzheimer's disease: a meta-analysis.

    Science.gov (United States)

    Maheshwari, Priya; Eslick, Guy D

    2015-01-01

    The possibility of an infectious etiology for Alzheimer's disease (AD) has been repeatedly postulated over the past three decades. We provide the first meta-analysis to address the relationship between bacterial infection and AD. Studies examining the association between AD and spirochetal bacteria or Chlamydophila pneumoniae (Cpn) were identified through a systematic search of the databases MEDLINE, EMBASE, PubMed, and Google Scholar. Data combined from 25 relevant, primarily case-control studies demonstrated a statistically significant association between AD and detectable evidence of infection of either bacterial group. We found over a ten-fold increased occurrence of AD when there is detectable evidence of spirochetal infection (OR: 10.61; 95% CI: 3.38-33.29) and over a four-fold increased occurrence of AD in a conservative risk estimate (OR: 4.45; 95% CI: 2.33-8.52). We found over a five-fold increased occurrence of AD with Cpn infection (OR: 5.66; 95% CI: 1.83-17.51). This study shows a strongly positive association between bacterial infection and AD. Further detailed investigation of the role of bacterial infection is warranted.

  12. Postural Stability Analysis with Inertial Measurement Units in Alzheimer's Disease

    Directory of Open Access Journals (Sweden)

    Miguel F. Gago

    2014-01-01

    Full Text Available Background: The cause of frequent falls in patients with Alzheimer's disease (AD is still not well understood. Nevertheless, balance control and sensory organization are known to be critical for moving safely and adapting to the environment. Methods: We evaluated postural stability in 20 AD patients (11 fallers and 9 nonfallers and 16 healthy controls with an inertial measurement unit (triaxial accelerometers and gyroscopes attached to the center of mass (COM in different balance conditions (Romberg on flat surface and frontward/backward-inclined surface, with or without visual suppression in a motor lab. Results: In AD patients, the group of fallers showed a different kinetic pattern of postural stability characterized by higher vulnerability to visual suppression, higher total/maximal displacement and a mediolateral/anteroposterior range of sway, and a consequent need for more corrections of COM pitch and roll angles. Conclusion: Further studies are needed to consolidate the normative values of the discriminatory kinetic variables with the potential of inclusion in a multifactorial analysis of the risk of falls. Nevertheless, these results highlight signs of impairment of central postural control in AD, which may require early therapeutic intervention.

  13. Proteomic analysis of purified Newcastle disease virus particles

    Directory of Open Access Journals (Sweden)

    Ren Xiangpeng

    2012-05-01

    Full Text Available Abstract Background Newcastle disease virus (NDV is an enveloped RNA virus, bearing severe economic losses to the poultry industry worldwide. Previous virion proteomic studies have shown that enveloped viruses carry multiple host cellular proteins both internally and externally during their life cycle. To address whether it also occurred during NDV infection, we performed a comprehensive proteomic analysis of highly purified NDV La Sota strain particles. Results In addition to five viral structural proteins, we detected thirty cellular proteins associated with purified NDV La Sota particles. The identified cellular proteins comprised several functional categories, including cytoskeleton proteins, annexins, molecular chaperones, chromatin modifying proteins, enzymes-binding proteins, calcium-binding proteins and signal transduction-associated proteins. Among these, three host proteins have not been previously reported in virions of other virus families, including two signal transduction-associated proteins (syntenin and Ras small GTPase and one tumor-associated protein (tumor protein D52. The presence of five selected cellular proteins (i.e., β-actin, tubulin, annexin A2, heat shock protein Hsp90 and ezrin associated with the purified NDV particles was validated by Western blot or immunogold labeling assays. Conclusions The current study presented the first standard proteomic profile of NDV. The results demonstrated the incorporation of cellular proteins in NDV particles, which provides valuable information for elucidating viral infection and pathogenesis.

  14. Genetic mapping of complex discrete human diseases by discriminant analysis

    Institute of Scientific and Technical Information of China (English)

    2002-01-01

    The objective of the present study is to propose and evaluate a novel multivariate approach for genetic mapping of complex categorical diseases. This approach results from an application of standard stepwise discriminant analysis to detect linkage based on the differential marker identity-by-descent (IBD) distributions among the different groups of sib pairs. Two major advantages of this method are that it allows for simultaneously testing all markers, together with other genetic and environmental factors in a single multivariate setting and it avoids explicitly modeling the complex relationship between the affection status of sib pairs and the underlying genetic determinants. The efficiency and properties of the method are demonstrated via simulations. The proposed multivariate approach has successfully located the true position(s) under various genetic scenarios. The more important finding is that using highly densely spaced markers (1~2 cM) leads to only a marginal loss of statistical efficiency of the proposed methods in terms of gene localization and statistical power. These results have well established its utility and advantages as a fine-mapping tool. A unique property of the proposed method is the ability to map multiple linked trait loci to their precise positions due to its sequential nature, as demonstrated via simulations.

  15. Fractal analysis of the retinal vasculature and chronic kidney disease.

    Science.gov (United States)

    Sng, Chelvin C A; Sabanayagam, Charumathi; Lamoureux, Ecosse L; Liu, Erica; Lim, Su Chi; Hamzah, Haslina; Lee, Jeannette; Tai, E Shyong; Wong, Tien Y

    2010-07-01

    BACKGROUND. Fractal analysis provides a global index of the geometric complexity and optimality of vascular networks. In this study, we investigated the relationship between fractal measurements of the retinal vasculature and chronic kidney disease (CKD). METHODS. This was a population-based case-control study which included participants from the Singapore Prospective Study Program. We identified 261 participants with CKD, defined as estimated glomerular filtration rate of fractal dimension (D(f)) was quantified from digitized fundus photographs using a computer-based programme. RESULTS. The mean D(f) was 1.43 +/- 0.048 in the participants with CKD and 1.44 +/- 0.042 in controls (P = 0.013). Suboptimal D(f) in the lowest (first) and highest (fifth) quintiles were associated with an increased prevalence of CKD after adjusting for age, systolic blood pressure, diabetes and other risk factors [odds ratio (OR) 2.10, 95% confidence interval (CI) 1.15, 3.83 and OR 1.84, 95% CI 1.06, 3.17; compared to the fourth quintile, respectively). This association was present even in participants without diabetes or hypertension. CONCLUSIONS. Our study found that an abnormal retinal vascular network is associated with an increased risk of CKD, supporting the hypothesis that deviations from optimal microvascular architecture may be related to kidney damage.

  16. [Wavelet entropy analysis of spontaneous EEG signals in Alzheimer's disease].

    Science.gov (United States)

    Zhang, Meiyun; Zhang, Benshu; Chen, Ying

    2014-08-01

    Wavelet entropy is a quantitative index to describe the complexity of signals. Continuous wavelet transform method was employed to analyze the spontaneous electroencephalogram (EEG) signals of mild, moderate and severe Alzheimer's disease (AD) patients and normal elderly control people in this study. Wavelet power spectrums of EEG signals were calculated based on wavelet coefficients. Wavelet entropies of mild, moderate and severe AD patients were compared with those of normal controls. The correlation analysis between wavelet entropy and MMSE score was carried out. There existed significant difference on wavelet entropy among mild, moderate, severe AD patients and normal controls (Pentropy for mild, moderate, severe AD patients was significantly lower than that for normal controls, which was related to the narrow distribution of their wavelet power spectrums. The statistical difference was significant (Pentropy of EEG and the MMSE score were significantly correlated (r= 0. 601-0. 799, Pentropy is a quantitative indicator describing the complexity of EEG signals. Wavelet entropy is likely to be an electrophysiological index for AD diagnosis and severity assessment.

  17. Quantitative analysis of contrast-enhanced ultrasonography of the bowel wall can predict disease activity in inflammatory bowel disease

    Energy Technology Data Exchange (ETDEWEB)

    Romanini, Laura, E-mail: laura.romanini@libero.it [Department of Radiology, Spedali Civili di Brescia, P.le Spedali Civili, 1, 25123 Brescia (Italy); Passamonti, Matteo, E-mail: matteopassamonti@gmail.com [Department of Radiology-AO Provincia di Lodi, Via Fissiraga, 15, 26900 Lodi (Italy); Navarria, Mario, E-mail: navarria.mario@tiscali.it [Department of Radiology-ASL Vallecamonica-Sebino, Via Manzoni 142, 25040 Esine, BS (Italy); Lanzarotto, Francesco, E-mail: francesco.lanzarotto@spedalicivili.brescia.it [Department of Gastroenterology, Spedali Civili di Brescia, P.le Spedali Civili, 1, 25123 Brescia (Italy); Villanacci, Vincenzo, E-mail: villanac@alice.it [Department of Pathology, Spedali Civili di Brescia, P.le Spedali Civili, 1, 25123 Brescia (Italy); Grazioli, Luigi, E-mail: radiologia1@spedalicivili.brescia.it [Department of Radiology, Spedali Civili di Brescia, P.le Spedali Civili, 1, 25123 Brescia (Italy); Calliada, Fabrizio, E-mail: fabrizio.calliada@gmail.com [Department of Radiology, University of Pavia, Viale Camillo Golgi 19, 27100 Pavia (Italy); Maroldi, Roberto, E-mail: rmaroldi@gmail.com [Department of Radiology, University of Brescia, P.le Spedali Civili, 1, 25123 Brescia (Italy)

    2014-08-15

    Purpose: To evaluate the accuracy of quantitative analysis of bowel wall enhancement in inflammatory bowel disease (IBD) with contrast enhanced ultrasound (CEUS) by comparing the results with vascular density in a biopsy sample from the same area of the intestinal tract, and to determine the usefulness of this analysis for the prediction of disease activity. Materials and methods: This prospective study was approved by our institute's ethics committee and all patients gave written informed consent. We enrolled 33 consecutive adult patients undergoing colonoscopy and biopsy for IBD. All patients underwent CEUS and the results were quantitatively analyzed. Vessel count per high-power field on biopsy specimens was compared with colonoscopy, baseline ultrasonography, and CEUS findings, and with analysis of peak intensity, time to peak, regional blood volume, mean transit time, and regional blood flow. Results in patients with high and low vascular density were compared using Fisher's test, t-test, Pearson's correlation test, and receiver operating characteristic curve (ROC) analysis. Cutoff values were determined using ROC analysis, and sensitivity and specificity were calculated. Results: High vascular density (>265 vessels per field) on histological examination was significantly correlated with active disease on colonoscopy, baseline ultrasonography, and CEUS (p < .0001). Quantitative analysis showed a higher enhancement peak, a shorter time to peak enhancement, a higher regional blood flow and regional blood volume in patients with high vascular density than in those with low vascular density. Cutoff values to distinguish between active and inactive disease were identified for peak enhancement (>40.5%), and regional blood flow (>54.8 ml/min). Conclusion: Quantitative analysis of CEUS data correlates with disease activity as determined by vascular density. Quantitative parameters of CEUS can be used to predict active disease with high sensitivity and

  18. Analysis of the ABCA4 genomic locus in Stargardt disease

    DEFF Research Database (Denmark)

    Zernant, Jana; Xie, Yajing Angela; Ayuso, Carmen

    2014-01-01

    Autosomal recessive Stargardt disease (STGD1, MIM 248200) is caused by mutations in the ABCA4 gene. Complete sequencing of ABCA4 in STGD patients identifies compound heterozygous or homozygous disease-associated alleles in 65-70% of patients and only one mutation in 15-20% of patients. This study...... patients of European-American descent. Defining disease-associated alleles in the ABCA4 locus requires exceptionally well characterized large cohorts and extensive analyses by a combination of various approaches....

  19. Biochemical analysis of saliva of subjects with periodontal disease

    OpenAIRE

    Brancher, João Armando; PAPALEXIOU, Vula; Romina Eulálio PETRUCCI; Mariângela NAVAL MACHADO; Regina Teixeira SOUZA; Mônica Erthal SCHÜTZEMBERGER

    2007-01-01

    The most common diseases of periodontal tissues are inflammatoryprocesses of gum and insertion of teeth normality associated to the local accumulation of teeth biofilm. The objective of this search is evaluating if the periodontal diseases are able to induce qualitative and quantitative alteration in saliva of subjects with periodontal diseases. Forty subjects,divided in 2 groups of 20, being one the control group (CG) and the other the test group (TG), based on age and sex were evaluated. Th...

  20. A meta-analysis of probiotic efficacy for gastrointestinal diseases.

    Directory of Open Access Journals (Sweden)

    Marina L Ritchie

    Full Text Available BACKGROUND: Meta-analyses on the effects of probiotics on specific gastrointestinal diseases have generally shown positive effects on disease prevention and treatment; however, the relative efficacy of probiotic use for treatment and prevention across different gastrointestinal diseases, with differing etiology and mechanisms of action, has not been addressed. METHODS/PRINCIPAL FINDINGS: We included randomized controlled trials in humans that used a specified probiotic in the treatment or prevention of Pouchitis, Infectious diarrhea, Irritable Bowel Syndrome, Helicobacter pylori, Clostridium difficile Disease, Antibiotic Associated Diarrhea, Traveler's Diarrhea, or Necrotizing Enterocolitis. Random effects models were used to evaluate efficacy as pooled relative risks across the eight diseases as well as across probiotic species, single vs. multiple species, patient ages, dosages, and length of treatment. Probiotics had a positive significant effect across all eight gastrointestinal diseases with a relative risk of 0.58 (95% (CI 0.51-0.65. Six of the eight diseases: Pouchitis, Infectious diarrhea, Irritable Bowel Syndrome, Helicobacter pylori, Clostridium difficile Disease, and Antibiotic Associated Diarrhea, showed positive significant effects. Traveler's Diarrhea and Necrotizing Enterocolitis did not show significant effects of probiotcs. Of the 11 species and species mixtures, all showed positive significant effects except for Lactobacillus acidophilus, Lactobacillus plantarum, and Bifidobacterium infantis. Across all diseases and probiotic species, positive significant effects of probiotics were observed for all age groups, single vs. multiple species, and treatment lengths. CONCLUSIONS/SIGNIFICANCE: Probiotics are generally beneficial in treatment and prevention of gastrointestinal diseases. Efficacy was not observed for Traveler's Diarrhea or Necrotizing Enterocolitis or for the probiotic species L. acidophilus, L. plantarum, and B

  1. REVASCULARIZATION FOR FEMOROPOPLITEAL DISEASE - A DECISION AND COST-EFFECTIVENESS ANALYSIS

    NARCIS (Netherlands)

    HUNINK, MGM; WONG, JB; DONALDSON, MC; MEYEROVITZ, MF; DEVRIES, J; HARRINGTON, DP

    1995-01-01

    Objective.-To evaluate the relative benefits and cost-effectiveness of revascularization for femoropopliteal disease using percutaneous transluminal angioplasty or bypass surgery. Design.-Decision analysis using a multistate transition simulation model (Markov process) and cost-effectiveness analysi

  2. Assessment of Alzheimer's disease symptom recognition in Korean Americans and psychometric analysis of Alzheimer's Disease Symptom Recognition Scale (ADSRS).

    Science.gov (United States)

    Lee, Sang E; Casado, Banghwa Lee

    2015-01-01

    This study examined recognition of Alzheimer's disease symptoms among Korean Americans (KAs) and assessed psychometric properties of the Alzheimer's Disease Symptom Recognition Scale (ADSRS). A cross-sectional survey collected data from 209 KAs, using a self-administered questionnaire. Results show that KAs recognized symptoms related to memory and cognitive functioning well, but had very limited recognition of neuropsychiatric symptoms. Psychometric analysis of ADSRS identified 4 factors in their symptom recognition. Findings suggest a need to raise awareness of Alzheimer's symptoms over the course of the disease. Assessment using ADSRS can be incorporated in communication in the practice context and public outreach.

  3. Detection of diseased plants by analysis of volatile organic compound emission

    NARCIS (Netherlands)

    Jansen, R.M.C.; Wildt, J.; Kappers, I.F.; Bouwmeester, H.J.; Hofstee, J.W.; Henten, van E.

    2011-01-01

    This review focuses on the detection of diseased plants by analysis of volatile organic compound (VOC) emissions. It includes an overview of studies that report on the impact of infectious and noninfectious diseases on these emissions and discusses the specificity of disease-induced emissions. The

  4. Detection of diseased plants by analysis of volatile organic compound emission

    NARCIS (Netherlands)

    Jansen, R.M.C.; Wildt, J.; Kappers, I.F.; Bouwmeester, H.J.; Hofstee, J.W.; Henten, van E.

    2011-01-01

    This review focuses on the detection of diseased plants by analysis of volatile organic compound (VOC) emissions. It includes an overview of studies that report on the impact of infectious and noninfectious diseases on these emissions and discusses the specificity of disease-induced emissions. The r

  5. Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome

    OpenAIRE

    Zemojtel, T.; Koehler, S; Mackenroth, L; Jaeger, M.; Hecht, J.; Krawitz, P.; Graul-Neumann, L; Doelken, S.; Ehmke, N.; Spielmann, M.; Oien, N.C.; Schweiger, M R; Krueger, U; Frommer, G.; Fischer, B.

    2014-01-01

    Less than half of patients with suspected genetic disease receive a molecular diagnosis. We have therefore integrated next-generation sequencing (NGS), bioinformatics, and clinical data into an effective diagnostic workflow. We used variants in the 2741 established Mendelian disease genes [the disease-associated genome (DAG)] to develop a targeted enrichment DAG panel (7.1 Mb), which achieves a coverage of 20-fold or better for 98% of bases. Furthermore, we established a computational method ...

  6. Application of YLD Calculation in Assessing Disease Data --An Analysis of 4 Diseases in 2 Regions

    Institute of Scientific and Technical Information of China (English)

    MA EN-Bo; WANG RUo-TAo; YANG GONG-HUAN; MICHAEL R. PHILLIPS

    1999-01-01

    The objective of the current study is to discuss the problems related to how data is used to calculate Years Lost with Disability (YLD) with the method recommended by the World Bank. The study includes collecting useful data, estimating disease duration and average age of disease onset,adjusting incidence and prevalence data by means of a software programme, DISMOD ( Harvard University Incidence & Prevalence Model), and assessing the importance of YLD calculation for different diseases.Remission and fatality rates of 3 diseases were estimated by experts at 2 round consultations.Incidence rates, disease duration and average age of disease onset were calculated and adjusted by DISMOD. YLD due to schizophrenia is the highest among 4 diseases in two regions. YLD is18.88% in disability adjusted life year for 4 diseases in Xiacheng District, and 19.97% in Fuyang County.Available data can be used for the calculation of YLD after being adjusted. DISMOD is a useful instrument to test the internal consistency of incidence, prevalence, remission and fatality rate. The adjusted data are acceptable to experts and DISMOD. To get rational remission and fatality rates, we can use a cohort method through expert consultations. To reflect overall burden of disease, YLD calculation should be used.

  7. Cardiac disease after radiation therapy for Hodgkin's disease: analysis of 48 patients

    Energy Technology Data Exchange (ETDEWEB)

    Applefeld, M.M.; Wiernik, P.H.

    1983-06-01

    Occult or overt but delayed cardiac disease after thoracic radiotherapy for Hodgkin's disease may be common. Detailed cardiac evaluations were performed in 48 patients with Hodgkin's disease at risk a mean of 97 months after radiotherapy. The study protocol included echocardiography, gated radionuclide ventriculography, and cardiac catheterization. Cardiac disease was found in 46 patients (96%) and included constrictive or occult constrictive pericarditis (24 patients), an abnormal hemodynamic response to a fluid challenge (14 patients), coronary artery disease (6 patients), and left ventricular dysfunction (2 patients). Most patients (53%) had normal echocardiograms. Gated blood pool radionuclide angiocardiography was performed in 42 patients. Excluding patients with occlusive coronary artery disease, the left ventricular ejection fraction at rest (mean 59%) and during exercise (mean 69%) was within normal limits. Thus (1) delayed cardiac disease after radiotherapy is common, (2) chronic pericardial disorders are the most frequent manifestations of this disease, and (3) the prognosis for patients who have radiation-induced cardiac disease is generally favorable.

  8. [Analysis of clinical pathway in changing and disabling neurological diseases].

    Science.gov (United States)

    Cordesse, V; Jametal, T; Guy, C; Lefebvre, S; Roussel, M; Ruggeri, J; Schimmel, P; Holstein, J; Meininger, V

    2013-01-01

    Neurological diseases are characterized by the complexity of care and by a constant and changing disability. More and more frequently, their impact on the clinical pathway remains unknown. Seven postgraduate rehabilitation students (Master coordination du handicap, université Pierre-et-Marie-Curie, Paris) reconstructed the clinical pathway of 123 patients with various neurological diseases: multiple sclerosis, Alzheimer disease, amyotrophic lateral sclerosis, spinal trauma, Parkinson disease and brain tumors. There was a significant correlation between disease duration and the number of specialists involved in care, the number of prescribed drugs and the number of short-term hospitalizations; there was no correlation with age. This result suggests that with time an increasing number of complications related to the initial neurological disease developed. Hospitalization in rehabilitation units was highly correlated with the degree of disability and also with the help received by the patients during the course of their disease. This result suggests that these hospitalizations were a direct consequence of burn out among relatives. General practitioners (GP) were highly involved only during the initial part of the pathway, and their involvement rapidly declined thereafter, suggesting a probable relation with the specificities and the complexity of care for neurological diseases which induces a progressive transfer of responsibilities from the GP to the hospital. Social care was always incomplete and occurred too late during the course of the disease. The feeling by the patients that their care pathway was chaotic was highly correlated with the quality of the information given to the patient at the time of the announcement of their disease. This study confirms that cares for neurological diseases is highly specific and that expert centers and coordination networks are in a key position to ensure an efficient care pathway.

  9. Morpho-functional analysis of Stargardt Disease for reading.

    Science.gov (United States)

    Sasso, Paola; Scupola, Andrea; Silvestri, Valeria; Amore, Filippo M; Abed, Edoardo; Calandriello, Luigi; Grimaldi, Gabriela; Caporossi, Aldo

    2017-06-01

    To analyze Stargardt disease (STGD) by morpho-functional examination and investigate the relationship between morpho-functional measures and reading performance. Observational case series study. Fifteen patients with STGD. Twenty-six eyes of 15 patients underwent complete ophthalmic evaluation. Spectral domain optical coherence tomography, fundus autofluorescence (FAF), best corrected visual acuity (BCVA), and microperimetric examinations were performed. FAF and optical coherence tomography (OCT) overlap on microperimetric images was obtained in order to evaluate both tomographic and FAF features passing through the eccentric fixation area. Both morphologic features and functional data were correlated with magnification of prescribed device and reading rate. Univariable analysis showed a significant correlation between magnification power and greatest linear dimension of both OCT and FAF (r = 0.69 and r = 0.67; p < 0.05). Magnification power was related to best corrected visual acuity (r = 0.56; p < 0.05). Retinal sensitivity map (r = 0.57; p < 0.05) was considered an indicator of reading rate. Magnification levels showed a positive correlation with eccentric preferred retinal location (p = 0.03) and the degree of FAF alteration (normal, dishomogeneous, ipoautofluorescence; p < 0.0001). As a result of the overlapping of OCT/FAF imaging on microperimetric exam, residual activity of outer retinal layers passing through the eccentric fixation area seems to be related with required magnification and reading rate. Identification of morpho-functional parameters is helpful for designing a customized rehabilitative program. Copyright © 2017 Canadian Ophthalmological Society. Published by Elsevier Inc. All rights reserved.

  10. Analysis of electrocardiogram in chronic obstructive pulmonary disease patients

    Directory of Open Access Journals (Sweden)

    Lazović Biljana

    2013-01-01

    Full Text Available Introduction. Chronic obstructive pulmonary disease is the fourth leading cause of mortality worldwide. It is defined as a persistent airflow limitation usually progressive and not fully reversible to treatment. The diagnosis of chronic obstructive pulmonary disease and severity of disease is confirmed by spirometry. Chronic obstructive pulmonary disease produces electrical changes in the heart which shows characteristic electrocardiogram pattern. The aim of this study was to observe and evaluate diagnostic values of electrocardiogram changes in chronic obstructive pulmonary disease patients with no other comorbidity. Material and Methods. We analyzed 110 electrocardiogram findings in clinically stable chronic obstructive pulmonary disease patients and evaluated the forced expiratory volume in the first second, ratio of forces expiratory volume in the first second to the fixed vital capacity, chest radiographs and electrocardiogram changes such as p wave height, QRS axis and voltage, right bundle branch block, left bundle branch block, right ventricular hypertrophy, T wave inversion in leads V1-V3, S1S2S3 syndrome, transition zone in praecordial lead and QT interval. Results. We found electrocardiogram changes in 64% patients, while 36% had normal electrocardiogram. The most frequent electrocardiogram changes observed were transition zone (76.36% low QRS (50% and p pulmonale (14.54%. Left axis deviation was observed in 27.27% patients. Conclusion. Diagnostic values of electrocardiogram in patients with chronic obstructive pulmonary disease suggest that chronic obstructive pulmonary disease patients should be screened electrocardiographically in addition to other clinical investigations.

  11. Sequence analysis of parvoviruses associated with enteric disease of poultry

    Science.gov (United States)

    Poult Enteritis Mortality Syndrome (PEMS) and Runting-Stunting Syndrome (RSS) are significant viral enteric diseases of poultry. The etiology of these diseases is not completely understood. Here, we report the application of a molecular screening method that was designed to detect novel viruses from...

  12. Clinical Analysis of Algerian Patients with Pompe Disease

    Science.gov (United States)

    Medjroubi, M.; Froissart, R.; Taghane, N.; Sifi, K.; Benhabiles, A.; Lemai, S.; Semra, S.; Benmekhebi, H.; Bouderda, Z.; Abadi, N.; Hamri, A.

    2017-01-01

    Pompe's disease is a metabolic myopathy caused by a deficiency of acid alpha-glucosidase (GAA), also called acid maltase, an enzyme that degrades lysosomal glycogen. The clinical presentation of Pompe's disease is variable with respect to the age of onset and rate of disease progression. Patients with onset of symptoms in early infancy (infantile-onset Pompe disease (IOPD)) typically exhibit rapidly progressive hypertrophic cardiomyopathy and marked muscle weakness. Most of them die within the first year of life from cardiac and/or respiratory failure. In the majority of cases of Pompe's disease, onset of symptoms occurs after infancy, ranging widely from the first to sixth decade of life (late-onset Pompe's disease or LOPD). Progression of the disease is relentless and patients eventually progress to loss of ambulation and death due to respiratory failure. The objective of this study was to characterize the clinical presentation of 6 patients (3 with EOPD and the other 3 with LOPD) of 5 families from the East of Algeria. All our patients were diagnosed as having Pompe's disease based on biochemical confirmations of GAA deficiency by dried blood spots (DBS) and GAA gene mutations were analyzed in all patients who consented (n = 4). Our results are similar to other ethnic groups. PMID:28265479

  13. Clinical Analysis of Algerian Patients with Pompe Disease

    Directory of Open Access Journals (Sweden)

    Y. Sifi

    2017-01-01

    Full Text Available Pompe’s disease is a metabolic myopathy caused by a deficiency of acid alpha-glucosidase (GAA, also called acid maltase, an enzyme that degrades lysosomal glycogen. The clinical presentation of Pompe’s disease is variable with respect to the age of onset and rate of disease progression. Patients with onset of symptoms in early infancy (infantile-onset Pompe disease (IOPD typically exhibit rapidly progressive hypertrophic cardiomyopathy and marked muscle weakness. Most of them die within the first year of life from cardiac and/or respiratory failure. In the majority of cases of Pompe’s disease, onset of symptoms occurs after infancy, ranging widely from the first to sixth decade of life (late-onset Pompe’s disease or LOPD. Progression of the disease is relentless and patients eventually progress to loss of ambulation and death due to respiratory failure. The objective of this study was to characterize the clinical presentation of 6 patients (3 with EOPD and the other 3 with LOPD of 5 families from the East of Algeria. All our patients were diagnosed as having Pompe’s disease based on biochemical confirmations of GAA deficiency by dried blood spots (DBS and GAA gene mutations were analyzed in all patients who consented (n=4. Our results are similar to other ethnic groups.

  14. CARD15 in inflammatory bowel disease and Crohn's disease phenotypes: an association study and pooled analysis.

    NARCIS (Netherlands)

    Oostenbrug, L.E.; Nolte, I.M.; Oosterom, E.; Steege, G. van der; Meerman, G.J. te; Dullemen, H.M. van; Drenth, J.P.H.; Jong, D.J. de; Linde, K. van der; Jansen, P.L.M.; Kleibeuker, J.H.

    2006-01-01

    BACKGROUND: Three major polymorphisms of the Caspase-Activation Recruitment Domain containing protein 15 gene have been described to be associated with Crohn's disease. Genotype-phenotype studies reported in literature provide conflicting data on disease localisation and behaviour. We investigated

  15. Association between resting heart rate and coronary artery disease, stroke, sudden death and noncardiovascular diseases: a meta-analysis

    Science.gov (United States)

    Zhang, Dongfeng; Wang, Weijing; Li, Fang

    2016-01-01

    Background: Resting heart rate is linked to risk of coronary artery disease, stroke, sudden death and noncardiovascular diseases. We conducted a meta-analysis to assess these associations in general populations and in populations of patients with hypertension or diabetes mellitus. Methods: We searched PubMed, Embase and MEDLINE from inception to Mar. 5, 2016. We used a random-effects model to combine study-specific relative risks (RRs). We used restricted cubic splines to assess the dose–response relation. Results: We included 45 nonrandomized prospective cohort studies in the meta-analysis. The multivariable adjusted RR with an increment of 10 beats/min in resting heart rate was 1.12 (95% confidence interval [CI] 1.09–1.14) for coronary artery disease, 1.05 (95% CI 1.01–1.08) for stroke, 1.12 (95% CI 1.02–1.24) for sudden death, 1.16 (95% CI 1.12–1.21) for noncardiovascular diseases, 1.09 (95% CI 1.06–1.12) for all types of cancer and 1.25 (95% CI 1.17–1.34) for noncardiovascular diseases excluding cancer. All of these relations were linear. In an analysis by category of resting heart rate ( 80 beats/min), the RRs were 0.99 (95% CI 0.93–1.04), 1.08 (95% CI 1.01–1.16) and 1.30 (95% CI 1.19–1.43), respectively, for coronary artery disease; 1.08 (95% CI 0.98–1.19), 1.11 (95% CI 0.98–1.25) and 1.08 (95% CI 0.93–1.25), respectively, for stroke; and 1.17 (95% CI 0.94–1.46), 1.31 (95% CI 1.12–1.54) and 1.57 (95% CI 1.39–1.77), respectively, for noncardiovascular diseases. After excluding studies involving patients with hypertension or diabetes, we obtained similar results for coronary artery disease, stroke and noncardiovascular diseases, but found no association with sudden death. Interpretation: Resting heart rate was an independent predictor of coronary artery disease, stroke, sudden death and noncardiovascular diseases over all of the studies combined. When the analysis included only studies concerning general populations, resting

  16. Associations of coeliac disease with coronary heart disease and cerebrovascular disease: A systematic review and meta-analysis.

    Science.gov (United States)

    Heikkilä, K; Koskinen, O A; Agarwal, A; Tikkinen, K A O; Mäki, M; Kaukinen, K

    2015-09-01

    Clinical experience suggests that atherosclerotic disease is common in individuals with coeliac disease, but epidemiological studies have had contradicting findings. To summarise the currently available evidence, we systematically reviewed and analysed observational studies of the association of coeliac disease or dermatitis herpetiformis with coronary heart disease (CHD) or stroke. We searched for studies comparing CHD or stroke outcomes with individuals with and without coeliac disease or dermatitis herpetiformis. Three investigators independently searched electronic databases, identified relevant studies and extracted data. Study-specific results were combined in random-effects meta-analyses, and heterogeneity was quantified using the I(2) statistic and meta-regression. Twenty-one studies were included in our systematic review and 18 in the meta-analyses. For CHD, the pooled hazard ratio for incident disease was 1.05 (95% confidence interval (CI): 0.93, 1.19) and the overall standardised mortality ratio was 1.21 (0.99, 1.49). For stroke and brain haemorrhage, the corresponding estimates were 1.10 (95% CI: 1.00, 1.21) and 1.43 (0.97, 2.10), respectively. There was moderate to considerable heterogeneity among the study-specific estimates. In addition, many estimates were based on small numbers of outcomes and they had limitations in terms of adjustment for potential confounders. Our meta-analyses lend some support to an association between coeliac disease and CHD or cerebrovascular disease, but the evidence base was heterogeneous and had limitations. Our systematic review highlighted a need in this area for adequately powered prospective studies with appropriate adjustment for potentially confounding factors. Copyright © 2015 Elsevier B.V. All rights reserved.

  17. EMG analysis in 78 cases with motor neuron disease

    Institute of Scientific and Technical Information of China (English)

    Zhang Qiubin

    2000-01-01

    This paper analysed the FMGs of 78 cases with the motor neuron disease(MND). The EMG of all patients showed following characteristics that the average duration of wave prolonged, the average voltage increased and it was found that fibrillation and fasciculatton potentials appeared spontaneously. The fibrillation potential of ENG waa related to course of disease. In the patients whose course of disease was short, the fibri llation potential increased obviously, while in the cases of chronic MND, It usually decreased. The motor nerve conduction velocity of most pa tients (41%) reduced, however, the sensory nerve conduction velocity was normal but two. We reviewed some references about EMG of the motor neuron disease and discussed their characteristics and mechanism

  18. Noninvasive Tests for Inflammatory Bowel Disease : A Meta-analysis

    NARCIS (Netherlands)

    Holtman, Gea A.; Lisman-van Leeuwen, Yvonne; Reitsma, Johannes B.; Berger, Marjolein Y.

    2016-01-01

    BACKGROUND: The clinical presentation of pediatric inflammatory bowel disease (IBD) is often nonspecific and overlaps with functional gastrointestinal disorders. OBJECTIVE: To determine the diagnostic accuracy of symptoms, signs, noninvasive tests, and test combinations that can assist the clinician

  19. Utility of faecal calprotectin analysis in adult inflammatory bowel disease

    Institute of Scientific and Technical Information of China (English)

    Lyn A Smith; Daniel R Gaya

    2012-01-01

    The inflammatory bowel diseases (IBD),Crohn's disease and ulcerative colitis,are chronic relapsing,remitting disorders.Diagnosis,along with assessment of disease activity and prognosis present challenges to managing clinicians.Faecal biomarkers,such as faecal calprotectin,are a non-invasive method which can be used to aid these decisions.Calprotectin is a calcium and zinc binding protein found in the cytosol of human neutrophils and macrophages.It is released extracellularly in times of cell stress or damage and can be detected within faeces and thus can be used as a sensitive marker of intestinal inflammation.Faecal calprotectin has been shown to be useful in the diagnosis of IBD,correlates with mucosal disease activity and can help to predict response to treatment or relapse.With growing evidence supporting its use,over the last decade this faecal biomarker has significantly changed the way IBD is managed.

  20. Clinical diagnosis analysis in 21 cases of spinal cord disease

    Institute of Scientific and Technical Information of China (English)

    ZHANG Hong

    2000-01-01

    21 cases of spinal cord disease were clinically analyzed of which 14 cases were male. 7 female, aged from 30 to 69, weraged 50.9. This group contained 2 cases of consciusness dysfunction. 2l of sensational dysfunction. 19 of morion dysrunction, 11 of aotonomic nerve dysrunction, 2 of, sexual dysfunction. 2 of Brown-Sequrd syndrome. llhad been chrmcally sympromatic for more than two months. the other were of acute for sub acute onset. The segments of the diseases were found mainly at cervical and thoracic ones. to which more attention should be pazd clincally. The incidences of intramedullary lesions were a bit more than that of extramedullary ones. Of the 11 extramendullary cases, 8 arised srorn verteoral body (72.7%), of which 6 cases arisen form the intervertebral dies, or 75%. On which emphasis should be laid clinically Foci in brain and spinal cord were found synchronically in 5 cases (23.8%). They were Wernick cerebral disease, metastetic cerebral tumor, cerebral infarction, polioencephalomyelitis. So possibility of brain disease should also be considerod when diagnosing spinai cord disease, especially in stenosis of cervical canal. Oppressed spinal cord was accodiated with cerebellopontine angle tumor. Disease in brain was negiected because of concermng spinal cord disease and cerehellopontine angie giant meningiona was discovered 5 yeas laaer. There are several methods to diagnose spinal cord disease, including X-rays photography, CSF test, CT, and MRI, etc. X-rays photography should be used for involved vertebral body in lateral and P-A position at first when to suspect spinal cord disease. It should be avoided that neglecting X-rays photography and using CT or MRIfirst. It should be noted when taking segments examination by CT or MRI, thut the actual vertebral body is usually located 7'- 14 segments below the spinal cord involved. Otherwise, misdiagnosis would be resulted. 4 c ases of oppressive spinal cord disease of this group were treated with operating

  1. Pediatric Gastrointestinal Diseases in Nigeria: Histopathologic Analysis of 74 Cases

    OpenAIRE

    Abudu; Emmanuel Kunle; Oyebadeyo; Tope Yinka; Inyang-Etoh; Emmanuel Columba

    2013-01-01

    BACKGROUND: Children are vulnerable to a vast number of diseases including gastrointestinal disorders, which may be associated with life threatening complications that sometimes result in mortality especially if left untreated. OBJECTIVE: To establish the age and sex distribution of children in the study population as well as the histopathological characteristics of gastrointestinal diseases that occurred in those children who were aged 14years and below in Sagamu, Southwestern Nigeria. MATER...

  2. Disease Modeling via Large-Scale Network Analysis

    Science.gov (United States)

    2015-05-20

    enzymes, ion channels , G- protein-coupled receptors, and nuclear receptors). Our methods incorporate information from eight other model organisms, namely...specific genes to traits and diseases , especially polygenic traits, which are the most challenging. We are also interested in developing theoretical...plant traits relevant to desirable agricultural properties to important human diseases . Our methods, Katz on 1. REPORT DATE (DD-MM-YYYY) 4. TITLE AND

  3. Analysis of Gastric Juice in Acid Peptic Diseases

    OpenAIRE

    Prasad V. Khodke , , ,; Z. G. Badade; N. L. Vyas

    2015-01-01

    Background: Peptic ulcer disease is an imbalance between offensive and defensive gastric factors. A bacterium called Helicobacter pylori has been considered a major causative agent for gastric and duodenal ulcers. This is a major cause of mortality in developing countries. Aims and Objectives:The aim of this study was to assess the biochemical parameters in gastric juice of acid peptic disease patients (Study Group) and normal healthy individuals (Control Group) in ...

  4. Heterogeneous multimodal biomarkers analysis for Alzheimer's disease via Bayesian network.

    Science.gov (United States)

    Jin, Yan; Su, Yi; Zhou, Xiao-Hua; Huang, Shuai

    2016-12-01

    By 2050, it is estimated that the number of worldwide Alzheimer's disease (AD) patients will quadruple from the current number of 36 million, while no proven disease-modifying treatments are available. At present, the underlying disease mechanisms remain under investigation, and recent studies suggest that the disease involves multiple etiological pathways. To better understand the disease and develop treatment strategies, a number of ongoing studies including the Alzheimer's Disease Neuroimaging Initiative (ADNI) enroll many study participants and acquire a large number of biomarkers from various modalities including demographic, genotyping, fluid biomarkers, neuroimaging, neuropsychometric test, and clinical assessments. However, a systematic approach that can integrate all the collected data is lacking. The overarching goal of our study is to use machine learning techniques to understand the relationships among different biomarkers and to establish a system-level model that can better describe the interactions among biomarkers and provide superior diagnostic and prognostic information. In this pilot study, we use Bayesian network (BN) to analyze multimodal data from ADNI, including demographics, volumetric MRI, PET, genotypes, and neuropsychometric measurements and demonstrate our approach to have superior prediction accuracy.

  5. Analysis of clinical manifestations of symptomatic acquired jejunoileal diverticular disease

    Institute of Scientific and Technical Information of China (English)

    Chia-Yuan Liu; Wen-Hsiung Chang; Shee-Chan Lin; Cheng-Hsin Chu; Tsang-En Wang; Shou-Chuan Shih

    2005-01-01

    AIM: To analyze systematically our experience over 22 years with symptomatic acquired diverticular disease of the jejunum and ileum, exploring the clinical manifestations and diagnosis of this rare but life-threatening disease.METHODS: The medical records of patients with surgically confirmed symptomatic jejunoileal diverticular disease were retrospectively reviewed. Data collected included demographic data, laboratory results, clinical course (acute or chronic), preoperative diagnosis, and operative findings. Inclusion criteria were as follows: (1) surgical confirmation of jejunoileal diverticular disease and (2)exclusion of congenital diverticula (e.g. Meckel's diverticulum).RESULTS: From January 1982 to July 2004, 28 patients with a total of 29 operations met the study criteria. The male:female ratio was 14:14, and the mean age was 62.6±3.5 years. The most common manifestation was abdominal pain. In nearly half of the patients, the symptoms were chronic. Two patients died after surgery. Only four cases were correctly diagnosed prior to surgery, three by small bowel series.CONCLUSION: Symptomatic acquired small bowel diverticular disease is difficult to diagnose. It should be considered in older patients with unexplained chronic abdominal symptoms. A small bowel series may be helpful in diagnosing this potentially life-threatening disease.

  6. Analysis of genetics and risk factors of Alzheimer's Disease.

    Science.gov (United States)

    Panpalli Ates, M; Karaman, Y; Guntekin, S; Ergun, M A

    2016-06-14

    Alzheimer's Disease is the leading neurodegenerative cause of dementia. The pathogenesis is not clearly understood yet, is believed to be the complex interaction between genetic and environmental factors. Consequently vascular risk factors and Apolipoprotein E genotyping are increasingly gaining importance. This study aimed at assessing the relationships between Alzheimer's Disease and Apolipoprotein E phenotype and vascular risk factors. Patients diagnosed with "possible Alzheimer's Disease" in the Gazi University, Department of Neurology, were included in the study and age-matched volunteer patients who attended the polyclinic were included as a control group. In this study, the risk factors including low education level, smoking, hyperlipidemia, higher serum total cholesterol levels, and hyperhomocysteinemia were found to be statistically significantly more common in the Alzheimer's Disease group in comparison to the Control Group, while all Apolipoprotein E ε4/ε4 genotypes were found in the Alzheimer's Disease group. The presence of the Apolipoprotein E ε4 allele is believed to increase vascular risk factors as well as to affect Alzheimer's Disease directly. The biological indicators which are used in identifying the patients' genes will be probably used in the treatment plan of the patients in the future.

  7. Pediatric Gastrointestinal Diseases in Nigeria: Histopathologic Analysis of 74 Cases

    Directory of Open Access Journals (Sweden)

    Abudu

    2013-10-01

    Full Text Available BACKGROUND: Children are vulnerable to a vast number of diseases including gastrointestinal disorders, which may be associated with life threatening complications that sometimes result in mortality especially if left untreated. OBJECTIVE: To establish the age and sex distribution of children in the study population as well as the histopathological characteristics of gastrointestinal diseases that occurred in those children who were aged 14years and below in Sagamu, Southwestern Nigeria. MATERIALS AND METHODS: Demographic data such as age, sex, and clinical summary of children in the study population were extracted from the medical records of Olabisi Onabanjo University Teaching Hospital, Sagamu, Ogun State from January 2003 to December 2009. Based on this information, a review of paraffin embedded blocks and slides as well as histopathological reports of gastrointestinal diseases that occurred in those children aged 14years and below was undertaken at the Morbid Anatomy Department of the hospital. RESULTS: Seventy–four cases of gastrointestinal diseases were seen in children aged 14years and below. The majority (39.2% of gastrointestinal diseases were accounted for by appendiceal lesions. Hirschsprung’s disease, intussusceptions, enterocolitis and jejunal atresia accounted for 29.7%, 10.8%, 6.8% and 4.1% of cases respectively. Adenocarcinoma of the intestine was the predominant gastrointestinal tumour, occurring in 5 out of 7 children. Two cases of non-Hodgkin lymphoma were also seen. The ages of the children ranged from 2 to 14 years, with a mean age of 8.6years and a peak age incidence of gastrointestinal disease in the 10-14year age group. Male children were more commonly affected with the exception of appendiceal lesions, which occurred more in females (M:F ratio= 1.6:1.0. Acute suppurative appendicitis was the most prevalent lesion of the appendix, occurring in 13 out of 29 appendiceal lesions. Moderately differentiated to poorly

  8. Spatial statistical analysis of basal stem root disease under natural field epidemic of oil palm

    Science.gov (United States)

    Kamu, Assis; Phin, Chong Khim; Seman, Idris Abu; Wan, Hoong Hak; Mun, Ho Chong

    2015-02-01

    Oil palm or scientifically known as Elaeis guineensis Jacq. is the most important commodity crop in Malaysia and has greatly contributed to the economy growth of the country. As far as disease is concerned in the industry, Basal Stem Rot (BSR) caused by Ganoderma boninence remains the most important disease. BSR disease is the most widely studied with information available for oil palm disease in Malaysia. However, there is still limited study on the spatial as well as temporal pattern or distribution of the disease especially under natural field epidemic condition in oil palm plantation. The objective of this study is to spatially identify the pattern of BSR disease under natural field epidemic using two geospatial analytical techniques, which are quadrat analysis for the first order properties of partial pattern analysis and nearest-neighbor analysis (NNA) for the second order properties of partial pattern analysis. Two study sites were selected with different age of tree. Both sites are located in Tawau, Sabah and managed by the same company. The results showed that at least one of the point pattern analysis used which is NNA (i.e. the second order properties of partial pattern analysis) has confirmed the disease is complete spatial randomness. This suggests the spread of the disease is not from tree to tree and the age of palm does not play a significance role in determining the spatial pattern of the disease. From the spatial pattern of the disease, it would help in the disease management program and for the industry in the future. The statistical modelling is expected to help in identifying the right model to estimate the yield loss of oil palm due to BSR disease in the future.

  9. Analysis of Gastric Juice in Acid Peptic Diseases

    Directory of Open Access Journals (Sweden)

    Prasad V. Khodke , , ,

    2015-01-01

    Full Text Available Background: Peptic ulcer disease is an imbalance between offensive and defensive gastric factors. A bacterium called Helicobacter pylori has been considered a major causative agent for gastric and duodenal ulcers. This is a major cause of mortality in developing countries. Aims and Objectives:The aim of this study was to assess the biochemical parameters in gastric juice of acid peptic disease patients (Study Group and normal healthy individuals (Control Group in humans. Material and Methods: A total of 70 patients suffering peptic ulcer disease with H. pylori infection and 15 non-infected individuals were chosen as control group. Results: We observed an increased significant level (p<0.05 in pH, b-glucuronidase activity, malondialdehyde (MDA and superoxide dismutase (SOD as well as catalase(CAT levels in gastric juice and decrease significant level (p<0.05 in pepsin activity, urea, mucin and nitric oxide level. Conclusion: The present study showed variations in levels of MDA, b-glucuronidase, SOD, CAT activities, pepsin, mucin urea and nitric oxide. Therefore these parameters can be used as additional parameters for diagnosis and prognosis of acid peptic diseases. These can be used by clinicians to adopt treatment strategies in betterment of acid peptic disease patients.

  10. Neutron activation analysis of the central nervous system tissues in neurological diseases

    Energy Technology Data Exchange (ETDEWEB)

    Yasui, Masayuki; Ota, Kiichiro [Wakayama Medical Coll. (Japan); Sasajima, Kazuhisa

    1994-07-01

    As the diseases due to excessive metals in living bodies and the metals of their causes, Minamata disease due to Hg, itai-itai disease due to Cd, dialysis brain disease due to Al, hemochromatosis due to Fe, Wilson disease due to Cu and so on have been known. Also as the neural diseases, in which the possibility that metals take part in them is presumed, there are amyotrophic lateral sclerosis, Alzheimer disease, Parkinson disease, Parkinsonism dementia and so on. In order to know the causes of the diseases due to excessive metals in living bodies and neurological diseases, the authors have measured Cu, Ca, Al, Mn, Zn and Fe in central nervous system tissues by activation analysis nondestructive method. The cases investigated were 4 cases of hepatocerebral diseases, 6 cases of ALS, 4 cases of Parkinson disease, 4 cases of Parkinsonism dementia, 4 cases of multiple sclerosis and 5 cases without CNS disease for the control. The method of measurement is described. The results for respective diseases are reported. Cu and Fe are in the relation of mirror images, and Cu formed Cu-superoxide dismutase (SOD) similarly to Zn and Mn as SOD carrier metals, and protects living bodies and CNS from oxidative stress. (K.I.).

  11. Content analysis of neurodegenerative and mental diseases social groups.

    Science.gov (United States)

    Martínez-Pérez, Borja; de la Torre-Díez, Isabel; Bargiela-Flórez, Beatriz; López-Coronado, Miguel; Rodrigues, Joel J P C

    2015-12-01

    This article aims to characterize the different types of Facebook and Twitter groups for different mental diseases, their purposes, and their functions. We focused the search on depressive disorders, dementia, and Alzheimer's and Parkinson's diseases and examined the Facebook (www.facebook.com) and Twitter (www.twitter.com) groups. We used four assessment criteria: (1) purpose, (2) type of creator, (3) telehealth content, and (4) free-text responses in surveys and interviews. We observed a total of 357 Parkinson groups, 325 dementia groups, 853 Alzheimer groups, and 1127 depression groups on Facebook and Twitter. Moreover, we analyze the responses provided by different users. The survey and interview responses showed that many people were interested in using social networks to support and help in the fight against these diseases. The results indicate that social networks are acceptable by users in terms of simplicity and utility. People use them for finding support, information, self-help, advocacy and awareness, and for collecting funds.

  12. Mass spectrometry analysis of gliadins in celiac disease.

    Science.gov (United States)

    Ferranti, Pasquale; Mamone, Gianfranco; Picariello, Gianluca; Addeo, Francesco

    2007-12-01

    In recent years, scientific research on wheat gluten proteins has followed three main directions aimed at (1) finding relationships between individual genetic alleles coding for gliadins, high or low molecular weight glutenin subunits, and the viscoelastic dough properties of flour-derived products such as pasta and bread; (2) identifying prolamins and derived peptides involved in celiac disease, a pathological condition in which the small intestine of genetically predisposed individuals is reversibly damaged; and (3) developing and validating sensitive and specific methods for detecting trace amounts of gluten proteins in gluten-free foods for celiac disease patients. In this review, the main aspects of current and perspective applications of mass spectrometry and proteomic technologies to the structural characterization of gliadins are presented, with focus on issues related to detection, identification, and quantification of intact gliadins, as well as gliadin-derived peptides relevant to the biochemical, immunological, and toxicological aspects of celiac disease.

  13. Etiological and clinical analysis on 220 children with cerebrovascular diseases

    Directory of Open Access Journals (Sweden)

    Zhi-hong TANG

    2014-03-01

    Full Text Available Etiological and clinical analyses of 220 children with cerebrovascular diseases were retrospectively analyzed. One hundred and forty-nine cases (67.73% were male, and 71 cases (32.27% were female. There were 186 cases (84.55% of patients to be found with clear causes, most of which were arteriovenous malformation (80/220, 36.36%, traumatic brain injury (38/220, 17.27%, intracranial infection (15/220, 6.82% , intracranial aneurysm (13/220, 5.91% , delayed vitamin K deficiency (12/220, 5.45% , congenital heart disease (9/220, 4.09% and cavernous malformation (7/220, 3.18%. The etiological and clinical features of children cerebrovascular diseases are distinct, and timely diagnosis and treatment will help to improve patients' prognosis. doi: 10.3969/j.issn.1672-6731.2014.03.017

  14. Analysis of Multivariate Disease Classification Data in the Presence of Partially Missing Disease Traits.

    Science.gov (United States)

    Miao, Jingang; Sinha, Samiran; Wang, Suojin; Diver, W Ryan; Gapstur, Susan M

    2014-01-01

    In modern cancer epidemiology, diseases are classified based on pathologic and molecular traits, and different combinations of these traits give rise to many disease subtypes. The effect of predictor variables can be measured by fitting a polytomous logistic model to such data. The differences (heterogeneity) among the relative risk parameters associated with subtypes are of great interest to better understand disease etiology. Due to the heterogeneity of the relative risk parameters, when a risk factor is changed, the prevalence of one subtype may change more than that of another subtype does. Estimation of the heterogeneity parameters is difficult when disease trait information is only partially observed and the number of disease subtypes is large. We consider a robust semiparametric approach based on the pseudo-conditional likelihood for estimating these heterogeneity parameters. Through simulation studies, we compare the robustness and efficiency of our approach with that of the maximum likelihood approach. The method is then applied to analyze the associations of weight gain with risk of breast cancer subtypes using data from the American Cancer Society Cancer Prevention Study II Nutrition Cohort.

  15. Searching for Factors that Distinguish Disease-Prone and Disease-Resistant Prions via Sequence Analysis

    Directory of Open Access Journals (Sweden)

    Lukasz Kurgan

    2008-01-01

    Full Text Available The exact mechanisms of prion misfolding and factors that predispose an individual to prion diseases are largely unknown. Our approach to identifying candidate factors in-silico relies on contrasting the C-terminal domain of PrPC sequences from two groups of vertebrate species: those that have been found to suffer from prion diseases, and those that have not. We propose that any significant differences between the two groups are candidate factors that may predispose individuals to develop prion disease, which should be further analyzed by wet-lab investigations. Using an array of computational methods we identified possible point mutations that could predispose PrPC to misfold into PrPSc. Our results include confirmatory findings such as the V210I mutation, and new findings including P137M, G142D, G142N, D144P, K185T, V189I, H187Y and T191P mutations, which could impact structural stability. We also propose new hypotheses that give insights into the stability of helix-2 and -3. These include destabilizing effects of Histidine and T188-T193 segment in helix-2 in the disease-prone prions, and a stabilizing effect of Leucine on helix-3 in the disease-resistant prions.

  16. CT Analysis of Retropharyngeal Abnormality in Kawasaki Disease

    Energy Technology Data Exchange (ETDEWEB)

    Roh, Kyung Min; Lee, Sun Wha; Yoo, Heong Hyun [School of Medicine, Ewha Womans University, Seoul (Korea, Republic of)

    2011-11-15

    To retrospectively compare the imaging characteristics of retropharyngeal density and associated findings for Kawasaki disease with those for non-Kawasaki disease, and identify the distinguishing features which aid the CT diagnosis of Kawasaki disease with retropharyngeal low density. Among the enhanced neck CT performed in children less than 8-years old with clinical presentation of fever and cervical lymphadenopathy over a 6-year period, only cases with retropharyngeal low density (RLD) were included in this study. The 56 cases of RLD were divided into two groups; group A included cases diagnosed as Kawasaki disease (n = 34) and group B included cases diagnosed as non-Kawasaki disease (n = 22). We evaluated the CT features including the thickness of RLD and its extent into the deep neck spaces, as well as soft tissue change in the adjacent structure. We also scored the extent of RLD into the deep neck spaces and the soft tissue changes in the adjacent structure. The thickness of RLD was greater in group A than in group B (group A, 6.0 {+-} 2.1; group B, 4.6 {+-} 1.5, p = 0.01). The score of the RLD extent into the deep neck spaces was significantly greater in group A than in group B (group A, 2.3 {+-} 1.3; group B, 0.8 {+-} 1.0, p < 0.01). Also, the score of the adjacent soft tissue changes was greater in group A than in group B (group A, 2.0 {+-} 1.1; group B, 1.0 {+-} 1.0, p < 0.01). If children present with fever and cervical lymphadenopathy that display retropharyngeal low density with extension into more deep neck spaces as well as changes in more adjacent soft tissue, the possibility of Kawasaki disease should be considered.

  17. Invasive Group A Streptococcal Disease. National Epidemiology and Genetic Analysis

    NARCIS (Netherlands)

    Vlaminckx, B.J.M.

    2006-01-01

    Infections with group A streptococci (GAS), or S. pyogenes, range from mild and superficial to very severe and lethal invasive disease. In severe invasive GAS infections, hypotension and multiorgan failure may develop rapidly resulting in the development of toxic shock-like syndrome (TSS). In the

  18. Cost Analysis of Early Psychosocial Intervention in Alzheimer's Disease

    DEFF Research Database (Denmark)

    Søgaard, R.; Sørensen, J.; Waldorff, F.B.

    2014-01-01

    BACKGROUND/AIM: To investigate the impact of early psychosocial intervention aimed at patients with Alzheimer's disease (AD) and their caregivers on resource use and costs from a societal perspective. METHODS: Dyads of patients and their primary caregiver were randomised to intervention (n = 163...

  19. Historical Concept Analysis of Venereal Disease in China

    Institute of Scientific and Technical Information of China (English)

    DU Juan; CAO Weike

    2011-01-01

    "Hualiu Bing" (the counterpart of Venereal Disease in Chinese) was well known by the public and even scholars as an appellation for sexually transmitted disease(STD) in ancient years. Through the review of the vernacular story (in Song and Yuan folk liter

  20. Statistical analysis of 233 cases in cerebovascular Diseases

    Institute of Scientific and Technical Information of China (English)

    Hu Hao-Yu; Zhejiang; Jlnhua

    2000-01-01

    Objection:Monitoring Clinical in-patient constituent ratio in cerebral vasscular diseases. Methods: we monitored 233 cases of CVD in clinical in--patient 13170 cases for three years with unique registry card accroding to ICD--9. These pepole′s data was putted in computer. Age, sex, constituent ratio of each disease in CVD was observed and number of death and rank order of cases of death as well. Results: In our data, number of male is more than female(1.75:I). Constituent ratio of age is increasing at 40 years old. Main part of CH is middle age and senility, but CI age is senility. Constituent ratio of each disease is following :CI 67.74%, CH 22.13%, CT 6.06%, SAH 3.79% respectlvly. The rank order of death in CVD is third later in cardiovascular diseases and tumors. Conclusions: Our materials revealsed that it is improtant that intensiv′e care and treatment group in pead population of CVD and prevention high risk facters of CVD and health care education

  1. Invasive Group A Streptococcal Disease. National Epidemiology and Genetic Analysis

    NARCIS (Netherlands)

    Vlaminckx, B.J.M.

    2006-01-01

    Infections with group A streptococci (GAS), or S. pyogenes, range from mild and superficial to very severe and lethal invasive disease. In severe invasive GAS infections, hypotension and multiorgan failure may develop rapidly resulting in the development of toxic shock-like syndrome (TSS). In the no

  2. Bayesian analysis of log Gaussian Cox processes for disease mapping

    DEFF Research Database (Denmark)

    Benes, Viktor; Bodlák, Karel; Møller, Jesper;

    We consider a data set of locations where people in Central Bohemia have been infected by tick-borne encephalitis, and where population census data and covariates concerning vegetation and altitude are available. The aims are to estimate the risk map of the disease and to study the dependence...

  3. A meta-analysis of cerebrovascular disease and hyperhomocysteinaemia

    DEFF Research Database (Denmark)

    Nielsen, G M; Tvedegaard, K C; Andersen, Niels Trolle;

    2000-01-01

    disease or stroke combined with a search of Embase, Science Citation Index and Biological Abstract. In 17 of these studies the populations were comparable. The studies were divided into two groups, cross-sectional studies and longitudinal studies where a pre-insult plasma or serum total homocysteine...

  4. Neurovestibular analysis and falls in Parkinson's disease and atypical parkinsonism

    NARCIS (Netherlands)

    Venhovens, J.; Meulstee, J.; Bloem, B.R.; Verhagen, W.I.

    2016-01-01

    The primary aim of our study was to determine the extent of vestibular dysfunction in patients with Parkinson's disease (PD). Our secondary aim was to determine if vestibular dysfunction in PD is a risk factor for falling. The tertiary aim was to determine both the extent of vestibular dysfunction a

  5. Analysis of timeliness of infectious disease reporting in the Netherlands

    Directory of Open Access Journals (Sweden)

    Kretzschmar Mirjam EE

    2011-05-01

    Full Text Available Abstract Background Timely reporting of infectious disease cases to public health authorities is essential to effective public health response. To evaluate the timeliness of reporting to the Dutch Municipal Health Services (MHS, we used as quantitative measures the intervals between onset of symptoms and MHS notification, and between laboratory diagnosis and notification with regard to six notifiable diseases. Methods We retrieved reporting data from June 2003 to December 2008 from the Dutch national notification system for shigellosis, EHEC/STEC infection, typhoid fever, measles, meningococcal disease, and hepatitis A virus (HAV infection. For each disease, median intervals between date of onset and MHS notification were calculated and compared with the median incubation period. The median interval between date of laboratory diagnosis and MHS notification was similarly analysed. For the year 2008, we also investigated whether timeliness is improved by MHS agreements with physicians and laboratories that allow direct laboratory reporting. Finally, we investigated whether reports made by post, fax, or e-mail were more timely. Results The percentage of infectious diseases reported within one incubation period varied widely, between 0.4% for shigellosis and 90.3% for HAV infection. Not reported within two incubation periods were 97.1% of shigellosis cases, 76.2% of cases of EHEC/STEC infection, 13.3% of meningococcosis cases, 15.7% of measles cases, and 29.7% of typhoid fever cases. A substantial percentage of infectious disease cases was reported more than three days after laboratory diagnosis, varying between 12% for meningococcosis and 42% for shigellosis. MHS which had agreements with physicians and laboratories showed a significantly shorter notification time compared to MHS without such agreements. Conclusions Over the study period, many cases of the six notifiable diseases were not reported within two incubation periods, and many were

  6. Analysis of disease spectrum of corporate executives after physical examination

    Directory of Open Access Journals (Sweden)

    Li Qing

    2011-12-01

    Full Text Available Introduction: To find out the disease spectrum of corporate executives and screen the common chronic diseases.Methods: The physical examination data of corporate executives were collected to carry out cross-sectional study.Results: Among 231 subjects, there were one hundred and ninety four males, which made up 85.3%, and thirty seven females, which made up 14.7%. The detection rate of chronic diseases in corporate executive was high. Specifically, the incidence rate of blood viscosity rise was 87.8%; the incidence rate of blood lipid rise was 79.5%; the incidence rate of obesity and overweight was 76.7%; the infection rate of Helicobacter pylori was 55.7%; the prevalence rate of fatty liver was 52.1%; the prevalence rate of kidney stones was 43.5%; the incidence of abnormal pancreatic echo was 52.3%; the incidence rate of abnormal TCD was 66.2%; the detection rate of coarse gallbladder wall was 35.5%. The prevalence rate of bone mineral density reduction was 39.6%; the detection rate of reduction of diastolic function of left ventricle was 37.5%; the incidence rate of raised serum uric acid was 28.6%; the incidence rate of blood glucose going up was 22%; the incidence rate of liver cyst was 19.5%. The prevalence rate of blood LDL rise was 23.9%; the prevalence rate of abnormal thyroid was 21.3%; the incidence rate of arteriosclerosis was 17.5%; the prevalence rate of hypertension was 17.4%.Conclusion: The corporate executives are high risk group of common metabolic diseases and cardiovascular and cerebrovascular diseases. Therefore, screening should be strengthened for them.

  7. Multi-center analysis of glucocerebrosidase mutations in Parkinson disease

    Science.gov (United States)

    Sidransky, Ellen; Nalls, Michael A.; Aasly, Jan O.; Aharon-Peretz, Judith; Annesi, Grazia; Barbosa, Egberto Reis; Bar-Shira, Anat; Berg, Daniela; Bras, Jose; Brice, Alexis; Chen, Chiung-Mei; Clark, Lorraine N.; Condroyer, Christel; De Marco, Elvira Valeria; Dürr, Alexandra; Eblan, Michael J.; Fahn, Stanley; Farrer, Matthew; Fung, Hon-Chung; Gan-Or, Ziv; Gasser, Thomas; Gershoni-Baruch, Ruth; Giladi, Nir; Griffith, Alida; Gurevich, Tanya; Januario, Cristina; Kropp, Peter; Lang, Anthony E.; Lee-Chen, Guey-Jen; Lesage, Suzanne; Marder, Karen; Mata, Ignacio F.; Mirelman, Anat; Mitsui, Jun; Mizuta, Ikuko; Nicoletti, Giuseppe; Oliveira, Catarina; Ottman, Ruth; Orr-Urtreger, Avi; Pereira, Lygia V.; Quattrone, Aldo; Rogaeva, Ekaterina; Rolfs, Arndt; Rosenbaum, Hanna; Rozenberg, Roberto; Samii, Ali; Samaddar, Ted; Schulte, Claudia; Sharma, Manu; Singleton, Andrew; Spitz, Mariana; Tan, Eng-King; Tayebi, Nahid; Toda, Tatsushi; Troiano, André; Tsuji, Shoji; Wittstock, Matthias; Wolfsberg, Tyra G.; Wu, Yih-Ru; Zabetian, Cyrus P.; Zhao, Yi; Ziegler, Shira G.

    2010-01-01

    Background Recent studies indicate an increased frequency of mutations in the gene for Gaucher disease, glucocerebrosidase (GBA), among patients with Parkinson disease. An international collaborative study was conducted to ascertain the frequency of GBA mutations in ethnically diverse patients with Parkinson disease. Methods Sixteen centers participated, including five from the Americas, six from Europe, two from Israel and three from Asia. Each received a standard DNA panel to compare genotyping results. Genotypes and phenotypic data from patients and controls were analyzed using multivariate logistic regression models and the Mantel Haenszel procedure to estimate odds ratios (ORs) across studies. The sample included 5691 patients (780 Ashkenazi Jews) and 4898 controls (387 Ashkenazi Jews). Results All 16 centers could detect GBA mutations, L444P and N370S, and the two were found in 15.3% of Ashkenazi patients with Parkinson disease (ORs = 4.95 for L444P and 5.62 for N370S), and in 3.2% of non-Ashkenazi patients (ORs = 9.68 for L444P and 3.30 for N370S). GBA was sequenced in 1642 non-Ashkenazi subjects, yielding a frequency of 6.9% for all mutations, demonstrate that limited mutation screens miss half the mutant alleles. The presence of any GBA mutation was associated with an OR of 5.43 across studies. Clinically, although phenotypes varied, subjects with a GBA mutation presented earlier, and were more likely to have affected relatives and atypical manifestations. Conclusion Data collected from sixteen centers demonstrate that there is a strong association between GBA mutations and Parkinson disease. PMID:19846850

  8. Atypical Clinical Manifestations of Graves' Disease: An Analysis in Depth

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    Mohamed Osama Hegazi

    2012-01-01

    Full Text Available Over the past few decades, there has been an increase in the number of reports about newly recognized (atypical or unusual manifestations of Graves' disease (GD, that are related to various body systems. One of these manifestations is sometimes the main presenting feature of GD. Some of the atypical manifestations are specifically related to GD, while others are also similarly seen in patients with other forms of hyperthyroidism. Lack of knowledge of the association between these findings and GD may lead to delay in diagnosis, misdiagnosis, or unnecessary investigations. The atypical clinical presentations of GD include anemia, vomiting, jaundice, and right heart failure. There is one type of anemia that is not explained by any of the known etiological factors and responds well to hyperthyroidism treatment. This type of anemia resembles anemia of chronic disease and may be termed GD anemia. Other forms of anemia that are associated with GD include pernicious anemia, iron deficiency anemia of celiac disease, and autoimmune hemolytic anemia. Vomiting has been reported as a presenting feature of Graves' disease. Some cases had the typical findings of hyperthyroidism initially masked, and the vomiting did not improve until hyperthyroidism has been detected and treated. Hyperthyroidism may present with jaundice, and on the other hand, deep jaundice may develop with the onset of overt hyperthyroidism in previously compensated chronic liver disease patients. Pulmonary hypertension is reported to be associated with GD and to respond to its treatment. GD-related pulmonary hypertension may be so severe to produce isolated right-sided heart failure that is occasionally found as the presenting manifestation of GD.

  9. Analysis of genome-wide association studies of Alzheimer disease and of Parkinson disease to determine if these 2 diseases share a common genetic risk.

    Science.gov (United States)

    Moskvina, Valentina; Harold, Denise; Russo, GianCarlo; Vedernikov, Alexey; Sharma, Manu; Saad, Mohamed; Holmans, Peter; Bras, Jose M; Bettella, Francesco; Keller, Margaux F; Nicolaou, Nayia; Simón-Sánchez, Javier; Gibbs, J Raphael; Schulte, Claudia; Durr, Alexandra; Guerreiro, Rita; Hernandez, Dena; Brice, Alexis; Stefánsson, Hreinn; Majamaa, Kari; Gasser, Thomas; Heutink, Peter; Wood, Nick; Martinez, Maria; Singleton, Andrew B; Nalls, Michael A; Hardy, John; Owen, Michael J; O'Donovan, Michael C; Williams, Julie; Morris, Huw R; Williams, Nigel M

    2013-10-01

    Despite Alzheimer disease (AD) and Parkinson disease (PD) being clinically distinct entities, there is a possibility of a pathological overlap, with some genome-wide association (GWA) studies suggesting that the 2 diseases represent a biological continuum. The application of GWA studies to idiopathic forms of AD and PD have identified a number of loci that contain genetic variants that increase the risk of these disorders. To assess the genetic overlap between PD and AD by testing for the presence of potentially pleiotropic loci in 2 recent GWA studies of PD and AD. Combined GWA analysis. Data sets from the United Kingdom, Germany, France, and the United States. Thousands of patients with AD or PD and their controls. Meta-analysis of GWA studies of AD and PD. To identify evidence for potentially pleiotropic alleles that increased the risk for both PD and AD, we performed a combined PD-AD meta-analysis and compared the results with those obtained in the primary GWA studies.We also tested for a net effect of potentially polygenic alleles that were shared by both disorders by performing a polygenic score analysis. Finally, we also performed a gene-based association analysis that was aimed at detecting genes that harbor multiple disease-causing single-nucleotide polymorphisms, some of which confer a risk of PD and some a risk of AD. Detailed interrogation of the single-nucleotide polymorphism, polygenic, and gene-based analyses resulted in no significant evidence that supported the presence of loci that increase the risk of both PD and AD. Our findings therefore imply that loci that increase the risk of both PD and AD are not widespread and that the pathological overlap could instead be “downstream” of the primary susceptibility genes that increase the risk of each disease.

  10. Using decision analysis to support proactive management of emerging infectious wildlife diseases

    Science.gov (United States)

    Grant, Evan H. Campbell; Muths, Erin L.; Katz, Rachel A.; Canessa, Stefano; Adams, Michael J.; Ballard, Jennifer R.; Berger, Lee; Briggs, Cheryl J.; Coleman, Jeremy; Gray, Matthew J.; Harris, M. Camille; Harris, Reid N.; Hossack, Blake R.; Huyvaert, Kathryn P.; Kolby, Jonathan E.; Lips, Karen R.; Lovich, Robert E.; McCallum, Hamish I.; Mendelson, Joseph R.; Nanjappa, Priya; Olson, Deanna H.; Powers, Jenny G.; Richgels, Katherine L.D.; Russell, Robin E.; Schmidt, Benedikt R.; Spitzen-van der Sluijs, Annemarieke; Watry, Mary Kay; Woodhams, Douglas C.; White, C. LeAnn

    2017-01-01

    Despite calls for improved responses to emerging infectious diseases in wildlife, management is seldom considered until a disease has been detected in affected populations. Reactive approaches may limit the potential for control and increase total response costs. An alternative, proactive management framework can identify immediate actions that reduce future impacts even before a disease is detected, and plan subsequent actions that are conditional on disease emergence. We identify four main obstacles to developing proactive management strategies for the newly discovered salamander pathogen Batrachochytrium salamandrivorans (Bsal). Given that uncertainty is a hallmark of wildlife disease management and that associated decisions are often complicated by multiple competing objectives, we advocate using decision analysis to create and evaluate trade-offs between proactive (pre-emergence) and reactive (post-emergence) management options. Policy makers and natural resource agency personnel can apply principles from decision analysis to improve strategies for countering emerging infectious diseases.

  11. Proteome analysis of human substantia nigra in Parkinson's disease

    Directory of Open Access Journals (Sweden)

    Werner Cornelius J

    2008-02-01

    Full Text Available Abstract Background Parkinson's disease (PD is the most common neurodegenerative disorder involving the motor system. Although not being the only region involved in PD, affection of the substantia nigra and its projections is responsible for some of the most debilitating features of the disease. To further advance a comprehensive understanding of nigral pathology, we conducted a tissue based comparative proteome study of healthy and diseased human substantia nigra. Results The gross number of differentially regulated proteins in PD was 221. In total, we identified 37 proteins, of which 16 were differentially expressed. Identified differential proteins comprised elements of iron metabolism (H-ferritin and glutathione-related redox metabolism (GST M3, GST P1, GST O1, including novel redox proteins (SH3BGRL. Additionally, many glial or related proteins were found to be differentially regulated in PD (GFAP, GMFB, galectin-1, sorcin, as well as proteins belonging to metabolic pathways sparsely described in PD, such as adenosyl homocysteinase (methylation, aldehyde dehydrogenase 1 and cellular retinol-binding protein 1 (aldehyde metabolism. Further differentially regulated proteins included annexin V, beta-tubulin cofactor A, coactosin-like protein and V-type ATPase subunit 1. Proteins that were similarly expressed in healthy or diseased substantia nigra comprised housekeeping proteins such as COX5A, Rho GDI alpha, actin gamma 1, creatin-kinase B, lactate dehydrogenase B, disulfide isomerase ER-60, Rab GDI beta, methyl glyoxalase 1 (AGE metabolism and glutamine synthetase. Interestingly, also DJ-1 and UCH-L1 were expressed similarly. Furthermore, proteins believed to serve as internal standards were found to be expressed in a constant manner, such as 14-3-3 epsilon and hCRMP-2, thus lending further validity to our results. Conclusion Using an approach encompassing high sensitivity and high resolution, we show that alterations of SN in PD include many

  12. Analysis of the New Zealand Black contribution to lupus-like renal disease

    Energy Technology Data Exchange (ETDEWEB)

    Drake, C.G.; Rozzo, S.J.; Hirschfeld, H.F.; Smarnworawong, N.P. [National Center for Immunology and Respiratory Medicine, Denver, CO (United States); Palmer, E. [Basel Institute of Immunology, Basel (Switzerland); Kotzin, B.L. [National Jewish Center for Immunology and Respiratory Medicine, Denver, CO (United States)]|[Univ. of Colorado Health Sciences Center, Denver, CO (United States)

    1995-03-01

    F{sub 1} progeny of New Zealand Black (NZB) and New Zealand White (NZW) mice spontaneously develop an autoimmune process remarkably similar to human systemic lupus erythematosus. Previous studies have implicated major genetic contributions from the NZW MHC and from a dominant NZB gene on chromosome 4. To identify additional NZB contributions to lupus-like disease, (NZB x SM/J)F{sub 1} x NZW backcross mice were followed for the development of severe renal disease and were comprehensively genotyped. Despite a 50% incidence of disease significant associations between the presence of the NZB genotype and disease were noted on chromosomes 1, 4, 7, 10, 13, and 19. The data indicated that multiple NZB genes, in different combinations, contribute to severe renal disease, and that no single gene is required. To further investigate this NZB contribution, NZB x SM/J (NXSM) recombinant inbred (RI) strains were crossed with NZW mice, and F{sub 1} progeny were analyzed for the presence of lupus-like renal disease. Interestingly, nearly all of the (RI x NZW)F{sub 1} cohorts studies expressed some level of disease. Five RI strains generated a high incidence of disease, similar to (NZB x NZW)F{sub 1} mice, and nearly one-half of the cohorts developed disease at intermediate levels. Only two cohorts demonstrated very little disease, supporting the conclusion that multiple genes are capable of disease induction. Experiments correlating the genotypes of these RI strains with their ability to generate disease revealed that none of the disease-associated loci defined by the backcross analysis were present in all five RI strains that generated disease at high levels. Overall, both the backcross data and RI analysis provide additional support for the genetic complexity of lupus nephritis and uphold the conclusion that heterogeneous combinations of contributing NZB genes seem to operate in a threshold manner to generate the disease phenotype. 31 refs., 3 figs., 2 tabs.

  13. Hansen's disease control in the State of São Paulo: a historical analysis.

    Science.gov (United States)

    Opromolla, Paula Araujo; Laurenti, Ruy

    2011-02-01

    Leprosy is an infectious contagious disease known since Biblical times. Global effort for disease control reveals intricate convergences of national history and of medical, governmental, and international policies. The study describes the history of Hansen's disease and control actions undertaken in the state of São Paulo starting in the 19th century and its connection with the development of public health in that state, by means of a bibliographic and documental analysis.

  14. FUNCTIONAL ANALYSIS AND GENOTYPE-PHENOTYPE CORRELATIONS IN WILSON DISEASE

    Directory of Open Access Journals (Sweden)

    Elena Scvortova

    2013-10-01

    Full Text Available Abstract: Knowledge of how mutations other than p.H1069Q translate into the basic defect in Wilson disease (WD is scarce due to the low incidence of homozygous index cases. A total of 12 homozygous mutations of ATP7B, were examined for their functional activity. Transfected Chinese hamster ovary cells (CHO-K1 exposed to elevated copper levels was used as a model for predicting the severity of different WD mutations. The results of this research have direct implications for WD diagnosis. Our data strongly confirms that phenotypic presentation of the patients is related to the ATP7B mutation, providing evidence for genotype - phenotype correlations and can explain in part the variable clinical features observed in patients with WD. The results we have provided help to highlight the information still needed for understanding the function and malfunction of ATP7B and its role in the disease.

  15. Cerebrospinal fluid analysis in the context of CNS demyelinating diseases

    Directory of Open Access Journals (Sweden)

    Sandro Luiz de Andrade Matas

    2013-09-01

    Full Text Available The central nervous system demyelinating diseases are a group of disorders with different etiologies, characterized by inflammatory lesions that are associated with loss of myelin and eventually axonal damage. In this group the most studied ones are multiple sclerosis (MS, neuromyelitis optic (NMO and acute disseminated encephalomyelitis (ADEM. The cerebrospinal fluid is essential to differentiate between these different syndromes and to define multiple sclerosis, helping to assess the probability of Clinical Isolated Syndrome turn into multiple sclerosis.

  16. Analysis of functional CT scan in cervical vertebral disease

    Energy Technology Data Exchange (ETDEWEB)

    Hirofuji, Eiichi; Tanaka, Seisuke; Tomihara, Mitsuo; Kita, Hiroshi; Yamasaki, Hiroyuki

    1982-12-01

    The atlantoaxial joint showed displacement in various directions in rheumatoid arthritis and cervical spondylosis. The displacements were promoted by anterior flexion and rotatory movements, exerting great influences on the spnial cord. The intervertebral space between the 5th and 6th vertebra showed narrowing of the vertebral canal in cervical spondylosis and was promoted by posterior flexion to affect the spinal cord to a great extent. Functional CT scan was useful for observation of pathologic conditions of vertebral diseases.

  17. Analysis of Heart Diseases Dataset using Neural Network Approach

    CERN Document Server

    Rani, K Usha

    2011-01-01

    One of the important techniques of Data mining is Classification. Many real world problems in various fields such as business, science, industry and medicine can be solved by using classification approach. Neural Networks have emerged as an important tool for classification. The advantages of Neural Networks helps for efficient classification of given data. In this study a Heart diseases dataset is analyzed using Neural Network approach. To increase the efficiency of the classification process parallel approach is also adopted in the training phase.

  18. Global foot-and-mouth disease research update and gap analysis: 7 - pathogenesis and molecular biology

    Science.gov (United States)

    In 2014, the GFRA (Global Foot-and-mouth disease Research Alliance) conducted a gap analysis of FMD (Foot-and-Mouth Disease) research. This work has been updated and reported in a series of papers, in this article we report findings in the fields of 1) pathogenesis and 2) molecular biology. The arti...

  19. Meta-analysis of genome-wide linkage studies across autoimmune diseases

    Science.gov (United States)

    Forabosco, Paola; Bouzigon, Emmanuelle; Ng, Mandy Y; Hermanowski, Jane; Fisher, Sheila A; Criswell, Lindsey A; Lewis, Cathryn M

    2009-01-01

    Autoimmune diseases are chronic disorders initiated by a loss of immunologic tolerance to self-antigens. They cluster within families, and patients may be diagnosed with more than one disease, suggesting pleiotropic genes are involved in the aetiology of different diseases. To identify potential loci, which confer susceptibility to autoimmunity independent of disease phenotype, we pooled results from genome-wide linkage studies, using the genome scan meta-analysis method (GSMA). The meta-analysis included 42 independent studies for 11 autoimmune diseases, using 7350 families with 18 291 affected individuals. In addition to the HLA region, which showed highly significant genome-wide evidence for linkage, we obtained suggestive evidence for linkage on chromosome 16, with peak evidence at 10.0–19.8 Mb. This region may harbour a pleiotropic gene (or genes) conferring risk for several diseases, although no such gene has been identified through association studies. We did not identify evidence for linkage at several genes known to confer increased risk to different autoimmune diseases (PTPN22, CTLA4), even in subgroups of diseases consistently found to be associated with these genes. The relative risks conferred by variants in these genes are modest (<1.5 in most cases), and even a large study like this meta-analysis lacks power to detect linkage. This study illustrates the concept that linkage and association studies have power to identify very different types of disease-predisposing variants. PMID:18781189

  20. The chronic care model versus disease management programs: a transaction cost analysis approach.

    Science.gov (United States)

    Leeman, Jennifer; Mark, Barbara

    2006-01-01

    The present article applies transaction cost analysis as a framework for better understanding health plans' decisions to improve chronic illness management by using disease management programs versus redesigning care within physician practices.

  1. Antibiotic prophylaxis for haematogenous bacterial arthritis in patients with joint disease: a cost effectiveness analysis

    NARCIS (Netherlands)

    P. Krijnen (Pieta); C.J. Kaandorp; E.W. Steyerberg (Ewout); D. van Schaardenburg (Dirkjan); H.J. Moens; J.D.F. Habbema (Dik)

    2001-01-01

    textabstractOBJECTIVE: To assess the cost effectiveness of antibiotic prophylaxis for haematogenous bacterial arthritis in patients with joint disease. METHODS: In a decision analysis, data from a prospective study on bacterial arthritis in 4907 patients with joint dise

  2. Meta-analysis of the rs2075650 polymorphism and risk of Alzheimer disease.

    Science.gov (United States)

    He, Ya; Li, Chen; Yang, Ying; Li, Yizhou; Wang, Yuan; Yang, Hua; Jin, Tianbo; Chen, Songsheng

    2016-10-01

    Several researchers have suggested that the rs2075650 polymorphism is significantly associated with an increased risk of developing Alzheimer disease (AD) in European. However, some others found inconsistent results in Asian (Chinese and Korean). We addressed the controversy through performing a meta-analysis of the relationship between rs2075650 in TOMM40 (translocase of outer mitochondrial membrane 40 homologue) and Alzheimer disease. We selected eight case-control studies involving 4290 cases of Alzheimer disease and 5556 healthy individuals. The association between the TOMM40 rs2075650 polymorphism and Alzheimer disease was examined by overall odds ratio (OR) with a 95 % confidence interval (CI). We used different genetic model analysis, sensitivity analysis, and assessments of bias in our meta-analysis. The pooled analysis showed the inconsistent results that TOMM40 rs2075650 polymorphism was associated with Alzheimer disease in European and Korean population in all genetic models, but there was no significant association between the TOMM40 rs2075650 polymorphism and Alzheimer disease risk in Chinese population. We conclude that rs2075650 in TOMM40 gene may increase the risk of Alzheimer disease.

  3. Prognostic Analysis of Patients with Ebola Virus Disease.

    Directory of Open Access Journals (Sweden)

    Xin Zhang

    2015-09-01

    Full Text Available The Ebola virus causes an acute, serious illness which is often fatal if untreated. However, factors affecting the survival of the disease remain unclear. Here, we investigated the prognostic factors of Ebola virus disease (EVD through various statistical models.Sixty three laboratory-confirmed EVD patients with relatively complete clinical profiles were included in the study. All the patients were recruited at Jui Government Hospital, Sierra Leone between October 1st, 2014 and January 18th, 2015. We first investigated whether a single clinical presentation would be correlated with the survival of EVD. Log-rank test demonstrated that patients with viral load higher than 10(6 copies/ml presented significantly shorter survival time than those whose viral load were lower than 10(6 copies/ml (P = 0.005. Also, using Pearson chi-square test, we identified that chest pain, coma, and viral load (>10(6 copies/ml were significantly associated with poor survival of EVD patients. Furthermore, we evaluated the effect of multiple variables on the survival of EVD by Cox proportional hazards model. Interestingly, results revealed that patient's age, symptom of confusion, and viral load were the significantly associated with the survival of EVD cases (P = 0.017, P = 0.002, and P = 0.027, respectively.These results suggest that age, chest pain, coma, confusion and viral load are associated with the prognosis of EVD, in which viral load could be one of the most important factors for the survival of the disease.

  4. Accurate stone analysis: the impact on disease diagnosis and treatment.

    Science.gov (United States)

    Mandel, Neil S; Mandel, Ian C; Kolbach-Mandel, Ann M

    2017-02-01

    This manuscript reviews the requirements for acceptable compositional analysis of kidney stones using various biophysical methods. High-resolution X-ray powder diffraction crystallography and Fourier transform infrared spectroscopy (FTIR) are the only acceptable methods in our labs for kidney stone analysis. The use of well-constructed spectral reference libraries is the basis for accurate and complete stone analysis. The literature included in this manuscript identify errors in most commercial laboratories and in some academic centers. We provide personal comments on why such errors are occurring at such high rates, and although the work load is rather large, it is very worthwhile in providing accurate stone compositions. We also provide the results of our almost 90,000 stone analyses and a breakdown of the number of components we have observed in the various stones. We also offer advice on determining the method used by the various FTIR equipment manufacturers who also provide a stone analysis library so that the FTIR users can feel comfortable in the accuracy of their reported results. Such an analysis on the accuracy of the individual reference libraries could positively influence the reduction in their respective error rates.

  5. Arsenic in drinking water and cerebrovascular disease, diabetes mellitus, and kidney disease in Michigan: a standardized mortality ratio analysis

    Directory of Open Access Journals (Sweden)

    Cameron Lorraine L

    2007-02-01

    Full Text Available Abstract Background Exposure to arsenic concentrations in drinking water in excess of 300 μg/L is associated with diseases of the circulatory and respiratory system, several types of cancer, and diabetes; however, little is known about the health consequences of exposure to low-to-moderate levels of arsenic (10–100 μg/L. Methods A standardized mortality ratio (SMR analysis was conducted in a contiguous six county study area of southeastern Michigan to investigate the relationship between moderate arsenic levels and twenty-three selected disease outcomes. Disease outcomes included several types of cancer, diseases of the circulatory and respiratory system, diabetes mellitus, and kidney and liver diseases. Arsenic data were compiled from 9251 well water samples tested by the Michigan Department of Environmental Quality from 1983 through 2002. Michigan Resident Death Files data were amassed for 1979 through 1997 and sex-specific SMR analyses were conducted with indirect adjustment for age and race; 99% confidence intervals (CI were reported. Results The six county study area had a population-weighted mean arsenic concentration of 11.00 μg/L and a population-weighted median of 7.58 μg/L. SMR analyses were conducted for the entire six county study area, for only Genesee County (the most populous and urban county, and for the five counties besides Genesee. Concordance of results across analyses is used to interpret the findings. Elevated mortality rates were observed for both males (M and females (F for all diseases of the circulatory system (M SMR, 1.11; CI, 1.09–1.13; F SMR, 1.15; CI, 1.13,-1.17, cerebrovascular diseases (M SMR, 1.19; CI, 1.14–1.25; F SMR, 1.19; CI, 1.15–1.23, diabetes mellitus (M SMR, 1.28; CI, 1.18–1.37; F SMR, 1.27; CI, 1.19–1.35, and kidney diseases (M SMR, 1.28; CI, 1.15–1.42; F SMR, 1.38; CI, 1.25–1.52. Conclusion This is some of the first evidence to suggest that exposure to low-to-moderate levels of

  6. Genome analysis of E. coli isolated from Crohn's disease patients.

    Science.gov (United States)

    Rakitina, Daria V; Manolov, Alexander I; Kanygina, Alexandra V; Garushyants, Sofya K; Baikova, Julia P; Alexeev, Dmitry G; Ladygina, Valentina G; Kostryukova, Elena S; Larin, Andrei K; Semashko, Tatiana A; Karpova, Irina Y; Babenko, Vladislav V; Ismagilova, Ruzilya K; Malanin, Sergei Y; Gelfand, Mikhail S; Ilina, Elena N; Gorodnichev, Roman B; Lisitsyna, Eugenia S; Aleshkin, Gennady I; Scherbakov, Petr L; Khalif, Igor L; Shapina, Marina V; Maev, Igor V; Andreev, Dmitry N; Govorun, Vadim M

    2017-07-19

    Escherichia coli (E. coli) has been increasingly implicated in the pathogenesis of Crohn's disease (CD). The phylogeny of E. coli isolated from Crohn's disease patients (CDEC) was controversial, and while genotyping results suggested heterogeneity, the sequenced strains of E. coli from CD patients were closely related. We performed the shotgun genome sequencing of 28 E. coli isolates from ten CD patients and compared genomes from these isolates with already published genomes of CD strains and other pathogenic and non-pathogenic strains. CDEC was shown to belong to A, B1, B2 and D phylogenetic groups. The plasmid and several operons from the reference CD-associated E. coli strain LF82 were demonstrated to be more often present in CDEC genomes belonging to different phylogenetic groups than in genomes of commensal strains. The operons include carbon-source induced invasion GimA island, prophage I, iron uptake operons I and II, capsular assembly pathogenetic island IV and propanediol and galactitol utilization operons. Our findings suggest that CDEC are phylogenetically diverse. However, some strains isolated from independent sources possess highly similar chromosome or plasmids. Though no CD-specific genes or functional domains were present in all CD-associated strains, some genes and operons are more often found in the genomes of CDEC than in commensal E. coli. They are principally linked to gut colonization and utilization of propanediol and other sugar alcohols.

  7. Leptospirosis and Peripheral Artery Occlusive Disease: A Nationwide Cohort Analysis.

    Science.gov (United States)

    Chiu, Chun-Hsiang; Lin, Cheng-Li; Lee, Feng-You; Wang, Ying-Chuan; Kao, Chia-Hung

    2016-03-01

    Data on the association between peripheral artery occlusive disease (PAOD) and leptospirosis are limited. We conducted a retrospective cohort study for determining whether leptospirosis is one of the possible risk factors for PAOD. Patients diagnosed with leptospirosis by using 2000 to 2010 data from the Taiwan National Health Insurance Research Database. Patients with leptospirosis without a history of PAOD were selected. For each leptospirosis patient, 4 controls without a history of leptospirosis and PAOD were randomly selected and frequency-matched for sex, age, the year of the index date, and comorbidity diseases. The follow-up period was from the time of the initial diagnosis of leptospirosis to the diagnosis date of PAOD, or December 31, 2011. The Cox proportional hazard regression models were used for analyzing the risk of PAOD. During the follow-up period, the cumulative incidence of PAOD was higher among the patients from the leptospirosis cohort than among the nonleptospirosis cohort (log-rank test, P leptospirosis cohort and 81 from the nonleptospirosis cohort were observed with the incidence rates of 2.1 and 1.3 per 1000 person-years, respectively, yielding a crude hazards ratio (HR) of 1.62 (95% confidence interval [CI] = 1.44-1.81) and adjusted HR (aHR) of 1.75 (95% CI = 1.58-1.95).The risk of PAOD was 1.75-fold higher in the patients with leptospirosis than in the general population.

  8. Rate of change in early Huntington's disease: a clinicometric analysis.

    Science.gov (United States)

    Meyer, Christina; Landwehrmeyer, Bernhard; Schwenke, Carsten; Doble, Adam; Orth, Michael; Ludolph, Albert C

    2012-01-01

    Sensitive outcome measures for patients with Huntington's disease (HD) are required for future clinical trials. Longitudinal data were collected from a 3-year study of 379 patients suffering from early HD who were not treated by antipsychotics. Progression of UHDRS item scores was evaluated by linear regression and slope, whereas correlation coefficient, standard error, and P values were estimated on the basis of the data of eight evaluations from screening to study end (36 months). For the functional assessment dimension, the proportion of "no" responses at baseline and at study end was determined. Linear progression was observed for the motor score and for all three functional measures (i.e., functional assessment score, independence assessment score, and total functional capacity score). In contrast, there was little evidence for progression of the behavioral assessment score over the study period, whereas the cognitive assessment score was intermediate. Twenty-two motor-score items showed linear progression, with a slope of >0.003. These included all chorea items, finger tapping and pronation/supination (left and right), gait, tongue protrusion, and tandem walking. Different symptom domains and individual items evolved at different rates in this group of patients suffering from early HD. It may be possible to select sensitive items to create a simplified version of the UHDRS, which would be more efficient and more sensitive for the assessment of disease progression in clinical trials and natural history studies.

  9. Association of Helicobacter pylori with Chronic Kidney Diseases: A Meta-Analysis.

    Science.gov (United States)

    Wijarnpreecha, Karn; Thongprayoon, Charat; Nissaisorakarn, Pitchaphon; Jaruvongvanich, Veeravich; Nakkala, Kiran; Rajapakse, Ridhmi; Cheungpasitporn, Wisit

    2017-08-01

    The reported risk of chronic kidney disease (CKD) in patients with Helicobacter pylori infection is conflicting. This meta-analysis was conducted to summarize all available data and to estimate the prevalence and association between H. pylori and kidney disease and CKD. Comprehensive literature review was conducted using MEDLINE and EMBASE database through October 2016 to identify studies that reported the prevalence or the association between H. pylori infection and non-dialysis-dependent kidney diseases or CKD. Effect estimates from the individual study were extracted and combined using random-effect, generic inverse variance method of DerSimonian and Laird. Of 4546 studies, nine cross-sectional studies met the eligibility criteria and were included in the meta-analysis. The estimated prevalence of H. pylori infection among subjects with kidney disease was 53% (95% CI 45-61%). The pooled OR of H. pylori in patients with non-dialysis-dependent kidney diseases was 1.20 (95% CI 0.73-1.97) when compared with the patients without kidney diseases. The meta-analysis was then limited to only studies evaluating the risk of H. pylori in CKD; the pooled OR of H. pylori in patients with CKD was 1.00 (95% CI 0.58-1.71). The estimated prevalence of H. pylori in patients with non-dialysis-dependent kidney diseases is 53%. This study does not support the association between H. pylori infection and non-dialysis-dependent kidney diseases nor CKD.

  10. Meta-analysis on anxiety and depression in adult celiac disease

    DEFF Research Database (Denmark)

    Smith, D F; Gerdes, Ulrik

    2012-01-01

    OBJECTIVE: We used meta-analysis to test hypotheses concerning whether adult celiac disease is reliably linked with anxiety and/or depression. METHOD: We examined published reports on anxiety and depression in adult celiac disease. RESULTS: Eighteen studies on depression and eleven studies...... on anxiety in adult celiac disease met selection criteria. They show that depression is reliably more common and/or more severe in adults with celiac disease than in healthy adults (overall meta-analysis effect size: 0.97). The fail-safe margin of unpublished reports that would be required to negate...... the finding exceeds 8000. Adults with celiac disease do not, however, differ reliably in terms of depression from adults with other physical illnesses, nor do they differ reliably from healthy adults or adults with other physical illnesses in terms of anxiety. CONCLUSION: Depression is common in adult celiac...

  11. Interactive exploratory data analysis tool in Alzheimer’s disease

    Directory of Open Access Journals (Sweden)

    Diana Furcila

    2015-04-01

    Thus, MorExAn provide us the possibility to relate histopathological data with neuropsychological and clinical variables. The aid of this interactive visualization tool brings us the possibility to find unexpected conclusions beyond the insight provided by simple statistics analysis, as well as to improve neuroscientists’ productivity.

  12. Periodontal Disease and Incident Lung Cancer Risk: A Meta-Analysis of Cohort Studies.

    Science.gov (United States)

    Zeng, Xian-Tao; Xia, Ling-Yun; Zhang, Yong-Gang; Li, Sheng; Leng, Wei-Dong; Kwong, Joey S W

    2016-10-01

    Periodontal disease is linked to a number of systemic diseases such as cardiovascular diseases and diabetes mellitus. Recent evidence has suggested periodontal disease might be associated with lung cancer. However, their precise relationship is yet to be explored. Hence, this study aims to investigate the association of periodontal disease and risk of incident lung cancer using a meta-analytic approach. PubMed, Scopus, and ScienceDirect were searched up to June 10, 2015. Cohort and nested case-control studies investigating risk of lung cancer in patients with periodontal disease were included. Hazard ratios (HRs) were calculated, as were their 95% confidence intervals (CIs) using a fixed-effect inverse-variance model. Statistical heterogeneity was explored using the Q test as well as the I(2) statistic. Publication bias was assessed by visual inspection of funnel plots symmetry and Egger's test. Five cohort studies were included, involving 321,420 participants in this meta-analysis. Summary estimates based on adjusted data showed that periodontal disease was associated with a significant risk of lung cancer (HR = 1.24, 95% CI = 1.13 to 1.36; I(2) = 30%). No publication bias was detected. Subgroup analysis indicated that the association of periodontal disease and lung cancer remained significant in the female population. Evidence from cohort studies suggests that patients with periodontal disease are at increased risk of developing lung cancer.

  13. Retrospective Analysis of Cancer with Behcets Disease: Single Center Experience

    Directory of Open Access Journals (Sweden)

    Berna Bozkurt Duman

    2014-02-01

    Results: One of our 105 patients with BD was found to have solid tumor in the rate of 0.9 %. The remaining 104 patients with BD were in follow up without any malignancy in this period. The malignancy that we reported was invasive right breast carcinoma in a 55-year-old woman with BD. A radically modified right mastectomy and axillary lymphadenectomy were performed and postoperative doxorubicin, cyclophosphamide therapy for four cycles and hormonal therapy with tamoxifen and leuprolide acetate was administered as adjuvant therapy. This patient had a history of 16 years colchicine usage as medication for BD. Conclusion:The rheumatologic diseases can predispose malignancy, the autoimmune nature of BD or the immunosupressive medicines could be possible causes of this carcinoma. However, in our study only one patient had malignancy. The another point of view; management and also prevention of cancer with BD is important entity.

  14. Creutzfeldt-Jakob Disease: Analysis of Four Cases

    Directory of Open Access Journals (Sweden)

    Ali Al Balushi

    2016-08-01

    Full Text Available Background: Creutzfeldt-Jakob disease (CJD is a rare, rapidly progressive neurodegenerative disease that almost always results in death in under a year from onset of symptoms. Here, we report four cases of CJD with different clinical presentations diagnosed at our institution over two-year period. Cases: The first patient is an 82-year-old woman who presented with depression, cognitive decline and word-finding difficulty over 4 weeks. The patient deteriorated neurologically to akinetic mutism and death within 6 weeks of presentation. The second patient is a 54-year-old woman with liver cirrhosis who presented with confusion, ataxia and multiple falls over 4 weeks. She was treated initially for hepatic encephalopathy, but continued to progress to mutism, startle myoclonus and obtundation. Death occurred within 4 weeks of presentation. The third patient is a 58-year-old woman who presented with an 8-week history of confusion, urinary incontinence, Parkinsonism, ataxia and myoclonus. Death occurred within 2 months from presentation. The fourth patient is a 67-year-old man who presented with a 6-week history of headache, blurred vision, ataxia and personality change and progressed to confusion, myoclonus, akinetic mutism and obtundation. Death occurred within 3 weeks from presentation. Conclusion: These 4 cases highlight the varied possible clinical presentations of CJD and demonstrate the importance of considering CJD in patients with atypical presentations of rapidly progressive cognitive decline. To diagnose CJD, brain biopsy remains the gold standard. However, the presence of CSF protein 14-3-3, typical MRI findings and suggestive EEG abnormalities all support the diagnosis.

  15. Analysis of cohort studies with multivariate and partially observed disease classification data.

    Science.gov (United States)

    Chatterjee, Nilanjan; Sinha, Samiran; Diver, W Ryan; Feigelson, Heather Spencer

    2010-09-01

    Complex diseases like cancers can often be classified into subtypes using various pathological and molecular traits of the disease. In this article, we develop methods for analysis of disease incidence in cohort studies incorporating data on multiple disease traits using a two-stage semiparametric Cox proportional hazards regression model that allows one to examine the heterogeneity in the effect of the covariates by the levels of the different disease traits. For inference in the presence of missing disease traits, we propose a generalization of an estimating equation approach for handling missing cause of failure in competing-risk data. We prove asymptotic unbiasedness of the estimating equation method under a general missing-at-random assumption and propose a novel influence-function-based sandwich variance estimator. The methods are illustrated using simulation studies and a real data application involving the Cancer Prevention Study II nutrition cohort.

  16. Periodontal disease and carotid atherosclerosis: A meta-analysis of 17,330 participants.

    Science.gov (United States)

    Zeng, Xian-Tao; Leng, Wei-Dong; Lam, Yat-Yin; Yan, Bryan P; Wei, Xue-Mei; Weng, Hong; Kwong, Joey S W

    2016-01-15

    The association between periodontal disease and carotid atherosclerosis has been evaluated primarily in single-center studies, and whether periodontal disease is an independent risk factor of carotid atherosclerosis remains uncertain. This meta-analysis aimed to evaluate the association between periodontal disease and carotid atherosclerosis. We searched PubMed and Embase for relevant observational studies up to February 20, 2015. Two authors independently extracted data from included studies, and odds ratios (ORs) with 95% confidence intervals (CIs) were calculated for overall and subgroup meta-analyses. Statistical heterogeneity was assessed by the chi-squared test (Pperiodontal disease was associated with carotid atherosclerosis (OR: 1.27, 95% CI: 1.14-1.41; Pperiodontal disease was associated with carotid atherosclerosis; however, further large-scale, well-conducted clinical studies are needed to explore the precise risk of developing carotid atherosclerosis in patients with periodontal disease. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

  17. Familial Alzheimer's disease: genetic analysis related to disease heterogeneity, Down syndrome and human brain evolution.

    Science.gov (United States)

    Schapiro, M B; Rapoport, S I

    1989-01-01

    Etiologically heterogeneous subgroups of patients with Alzheimer's disease (AD) exist and need to be distinguished so as to better identify genetic causes of familial cases. Furthermore, the presence of AD neuropathology in Down syndrome (trisomy 21) subjects older than 35 years suggests that AD in some cases is caused by dysregulation of expression of genes on chromosome 21. Cerebral metabolic abnormalities in life, and the distribution of AD neuropathology in the post-mortem brain, indicate that AD involves the association neocortices and subcortical regions with which they evolved during evolution of the human brain. Accordingly, understanding the molecular basis of this evolution should elucidate the genetic basis of AD, whereas knowing the genetics of AD should be informative about the genomic changes which promoted brain evolution.

  18. On the analysis of competitive displacement in dengue disease transmission

    Science.gov (United States)

    Wijaya, Karunia P.; Nuraini, Nuning; Soewono, Edy; Handayani, Dewi

    2014-03-01

    We study a host-vector model involving the interplay of competitive displacement mechanism in a specific DENV serotype, both in human blood and mosquito blood. Using phylogenetic analysis, world virologists investigate the severe manifestations of dengue fever caused by the displacements within weakly virulent pathogens (native strains) by more virulent pathogens (invasive strains) in one serotype. We construct SIR model for human and SI model for mosquito to explore the key determinants of those displacements. Analysis of nonnegativity and boundedness of the solution as well as the basic reproduction number (R0) are taken into account for verifying the model into biological meaningfulness. To generate predictions of the outcomes of control strategies, we derive an optimal control model which involves two control apparatus: fluid infusion (for human) and fumigation (for vector). Numerical results show the dynamics of host-vector in an observation period, both under control and without control.

  19. Dopamine Transporter Neuroimaging as an Enrichment Biomarker in Early Parkinson's Disease Clinical Trials: A Disease Progression Modeling Analysis.

    Science.gov (United States)

    Conrado, Daniela J; Nicholas, Timothy; Tsai, Kuenhi; Macha, Sreeraj; Sinha, Vikram; Stone, Julie; Corrigan, Brian; Bani, Massimo; Muglia, Pierandrea; Watson, Ian A; Kern, Volker D; Sheveleva, Elena; Marek, Kenneth; Stephenson, Diane T; Romero, Klaus

    2017-07-27

    Given the recognition that disease-modifying therapies should focus on earlier Parkinson's disease stages, trial enrollment based purely on clinical criteria poses significant challenges. The goal herein was to determine the utility of dopamine transporter neuroimaging as an enrichment biomarker in early motor Parkinson's disease clinical trials. Patient-level longitudinal data of 672 subjects with early-stage Parkinson's disease in the Parkinson's Progression Markers Initiative (PPMI) observational study and the Parkinson Research Examination of CEP-1347 Trial (PRECEPT) clinical trial were utilized in a linear mixed-effects model analysis. The rate of worsening in the motor scores between subjects with or without a scan without evidence of dopamine transporter deficit was different both statistically and clinically. The average difference in the change from baseline of motor scores at 24 months between biomarker statuses was -3.16 (90% confidence interval [CI] = -0.96 to -5.42) points. Dopamine transporter imaging could identify subjects with a steeper worsening of the motor scores, allowing trial enrichment and 24% reduction of sample size. Published 2017. This article is a U.S. Government work and is in the public domain in the USA. Clinical and Translational Science published by Wiley Periodicals, Inc. on behalf of American Society for Clinical Pharmacology and Therapeutics.

  20. Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease

    NARCIS (Netherlands)

    H. Schunkert (Heribert); I.R. König (Inke); S. Kathiresan (Sekar); M.P. Reilly (Muredach); T.L. Assimes (Themistocles); H. Holm (Hilma); M. Preuss (Michael); A.F.R. Stewart (Alexandre); M. Barbalic (maja); C. Gieger (Christian); D. Absher (Devin); Z. Aherrahrou (Zouhair); H. Allayee (Hooman); D. Altshuler (David); S.S. Anand (Sonia); K. Andersen (Karl); J.L. Anderson (Jeffrey); D. Ardissino (Diego); S.G. Ball (Stephen); A.J. Balmforth (Anthony); T.A. Barnes (Timothy); D.M. Becker (Diane); K. Berger (Klaus); J.C. Bis (Joshua); S.M. Boekholdt (Matthijs); E.A. Boerwinkle (Eric); P.S. Braund (Peter); M.J. Brown (Morris); M.S. Burnett; I. Buysschaert (Ian); J.F. Carlquist (John); L. Chen (Li); S. Cichon (Sven); V. Codd (Veryan); R.W. Davies (Robert); G.V. Dedoussis (George); A. Dehghan (Abbas); S. Demissie (Serkalem); J. Devaney (Joseph); P. Diemert (Patrick); R. Do (Ron); A. Doering (Angela); S. Eifert (Sandra); N.E.E. Mokhtari; S.G. Ellis (Stephen); R. Elosua (Roberto); J.C. Engert (James); S.E. Epstein (Stephen); U. de Faire (Ulf); M. Fischer (Marcus); A.R. Folsom (Aaron); J. Freyer (Jennifer); B. Gigante (Bruna); D. Girelli (Domenico); S. Gretarsdottir (Solveig); V. Gudnason (Vilmundur); J.R. Gulcher (Jeffrey); E. Halperin (Eran); N. Hammond (Naomi); S.L. Hazen (Stanley); A. Hofman (Albert); B.D. Horne (Benjamin); T. Illig (Thomas); C. Iribarren (Carlos); G.T. Jones (Gregory); J.W. Jukema (Jan Wouter); M.A. Kaiser (Michael); R.C. Kaplan (Robert); K-T. Khaw (Kay-Tee); J.W. Knowles (Joshua); G. Kolovou (Genovefa); A. Kong (Augustine); R. Laaksonen (Reijo); D. Lambrechts (Diether); K. Leander (Karin); G. Lettre (Guillaume); X. Li (Xiaohui); W. Lieb (Wolfgang); C. Loley (Christina); A.J. Lotery (Andrew); P.M. Mannucci (Pier); S. Maouche (Seraya); N. Martinelli (Nicola); P.P. McKeown (Pascal); C. Meisinger (Christa); T. Meitinger (Thomas); O. Melander (Olle); P.A. Merlini; V. Mooser (Vincent); T. Morgan (Thomas); T.W. Mühleisen (Thomas); J.B. Muhlestein (Joseph); T. Münzel (Thomas); K. Musunuru (Kiran); J. Nahrstaedt (Janja); C.P. Nelson (Christopher P.); M.M. Nöthen (Markus); O. Olivieri (Oliviero); R.S. Patel (Riyaz); C.C. Patterson (Chris); A. Peters (Annette); F. Peyvandi (Flora); L. Qu (Liming); A.A. Quyyumi (Arshed); D.J. Rader (Daniel); L.S. Rallidis (Loukianos); C. Rice (Catherine); F.R. Rosendaal (Frits); D. Rubin (Diana); V. Salomaa (Veikko); M.L. Sampietro (Maria Lourdes); M.S. Sandhu (Manj); E.E. Schadt (Eric); A. Scḧsignfer (Arne); A. Schillert (Arne); S. Schreiber (Stefan); J. Schrezenmeir (Jürgen); S.M. Schwartz (Stephen); D.S. Siscovick (David); M. Sivananthan (Mohan); S. Sivapalaratnam (Suthesh); A.V. Smith (Albert Vernon); J.D. Snoep (Jaapjan); N. Soranzo (Nicole); J.A. Spertus (John); K. Stark (Klaus); K. Stirrups (Kathy); M. Stoll (Monika); W.H.W. Tang (Wilson); S. Tennstedt (Stephanie); G. Thorgeirsson (Gudmundur); G. Thorleifsson (Gudmar); M. Tomaszewski (Maciej); A.G. Uitterlinden (André); A.M. van Rij (Andre); B.F. Voight (Benjamin); N.J. Wareham (Nick); G.A. Wells (George); H.E. Wichmann (Heinz Erich); P.S. Wild (Philipp); C. Willenborg (Christina); J.C.M. Witteman (Jacqueline); B.J. Wright (Benjamin); S. Ye (Shu); T. Zeller (Tanja); A. Ziegler (Andreas); F. Cambien (François); A.H. Goodall (Alison); L.A. Cupples (Adrienne); T. Quertermous (Thomas); W. Mäsignrz (Winfried); C. Hengstenberg (Christian); S. Blankenberg (Stefan); W.H. Ouwehand (Willem); A.S. Hall (Alistair); J.J.P. Kastelein (John); P. Deloukas (Panagiotis); J.R. Thompson (John); K. Stefansson (Kari); R. Roberts (Robert); U. Thorsteinsdottir (Unnur); C.J. O'Donnell (Christopher); R. McPherson (Ruth); J. Erdmann (Jeanette); N.J. Samani (Nilesh)

    2011-01-01

    textabstractWe performed a meta-analysis of 14 genome-wide association studies of coronary artery disease (CAD) comprising 22,233 individuals with CAD (cases) and 64,762 controls of European descent followed by genotyping of top association signals in 56,682 additional individuals. This analysis

  1. Pathway-based Analysis Tools for Complex Diseases:A Review

    Institute of Scientific and Technical Information of China (English)

    Lv Jin; Xiao-Yu Zuo; Wei-Yang Su; Xiao-Lei Zhao; Man-Qiong Yuan; Li-Zhen Han; Xiang Zhao; Ye-Da Chen; Shao-Qi Rao

    2014-01-01

    Genetic studies are traditionally based on single-gene analysis. The use of these analyses can pose tremendous challenges for elucidating complicated genetic interplays involved in complex human diseases. Modern pathway-based analysis provides a technique, which allows a comprehen-sive understanding of the molecular mechanisms underlying complex diseases. Extensive studies uti-lizing the methods and applications for pathway-based analysis have significantly advanced our capacity to explore large-scale omics data, which has rapidly accumulated in biomedical fields. This article is a comprehensive review of the pathway-based analysis methods––the powerful methods with the potential to uncover the biological depths of the complex diseases. The general concepts and procedures for the pathway-based analysis methods are introduced and then, a comprehensive review of the major approaches for this analysis is presented. In addition, a list of available path-way-based analysis software and databases is provided. Finally, future directions and challenges for the methodological development and applications of pathway-based analysis techniques are dis-cussed. This review will provide a useful guide to dissect complex diseases.

  2. Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease

    NARCIS (Netherlands)

    H. Schunkert (Heribert); I.R. König (Inke); S. Kathiresan (Sekar); M.P. Reilly (Muredach); T.L. Assimes (Themistocles); H. Holm (Hilma); M. Preuss (Michael); A.F.R. Stewart (Alexandre); M. Barbalic (maja); C. Gieger (Christian); D. Absher (Devin); Z. Aherrahrou (Zouhair); H. Allayee (Hooman); D. Altshuler (David); S.S. Anand (Sonia); K. Andersen (Karl); J.L. Anderson (Jeffrey); D. Ardissino (Diego); S.G. Ball (Stephen); A.J. Balmforth (Anthony); T.A. Barnes (Timothy); D.M. Becker (Diane); K. Berger (Klaus); J.C. Bis (Joshua); S.M. Boekholdt (Matthijs); E. Boerwinkle (Eric); P.S. Braund (Peter); M.J. Brown (Morris); M.S. Burnett; I. Buysschaert (Ian); J.F. Carlquist (John); L. Chen (Li); S. Cichon (Sven); V. Codd (Veryan); R.W. Davies (Robert); G.V. Dedoussis (George); A. Dehghan (Abbas); S. Demissie (Serkalem); J. Devaney (Joseph); P. Diemert (Patrick); R. Do (Ron); A. Doering (Angela); S. Eifert (Sandra); N.E.E. Mokhtari; S.G. Ellis (Stephen); R. Elosua (Roberto); J.C. Engert (James); S.E. Epstein (Stephen); U. de Faire (Ulf); M. Fischer (Marcus); A.R. Folsom (Aaron); J. Freyer (Jennifer); B. Gigante (Bruna); D. Girelli (Domenico); S. Gretarsdottir (Solveig); V. Gudnason (Vilmundur); J.R. Gulcher (Jeffrey); E. Halperin (Eran); N. Hammond (Naomi); S.L. Hazen (Stanley); A. Hofman (Albert); B.D. Horne (Benjamin); T. Illig (Thomas); C. Iribarren (Carlos); G.T. Jones (Gregory); J.W. Jukema (Jan Wouter); M.A. Kaiser (Michael); R.C. Kaplan (Robert); K-T. Khaw (Kay-Tee); J.W. Knowles (Joshua); G. Kolovou (Genovefa); A. Kong (Augustine); R. Laaksonen (Reijo); D. Lambrechts (Diether); K. Leander (Karin); G. Lettre (Guillaume); X. Li (Xiaohui); W. Lieb (Wolfgang); C. Loley (Christina); A.J. Lotery (Andrew); P.M. Mannucci (Pier); S. Maouche (Seraya); N. Martinelli (Nicola); P.P. McKeown (Pascal); C. Meisinger (Christa); T. Meitinger (Thomas); O. Melander (Olle); P.A. Merlini; V. Mooser (Vincent); T. Morgan (Thomas); T.W. Mühleisen (Thomas); J.B. Muhlestein (Joseph); T. Münzel (Thomas); K. Musunuru (Kiran); J. Nahrstaedt (Janja); C.P. Nelson (Christopher P.); M.M. Nöthen (Markus); O. Olivieri (Oliviero); R.S. Patel (Riyaz); C.C. Patterson (Chris); A. Peters (Annette); F. Peyvandi (Flora); L. Qu (Liming); A.A. Quyyumi (Arshed); D.J. Rader (Daniel); L.S. Rallidis (Loukianos); C. Rice (Catherine); F.R. Rosendaal (Frits); D. Rubin (Diana); V. Salomaa (Veikko); M.L. Sampietro (Maria Lourdes); M.S. Sandhu (Manj); E.E. Schadt (Eric); A. Scḧsignfer (Arne); A. Schillert (Arne); S. Schreiber (Stefan); J. Schrezenmeir (Jürgen); S.M. Schwartz (Stephen); D.S. Siscovick (David); M. Sivananthan (Mohan); S. Sivapalaratnam (Suthesh); A.V. Smith (Albert Vernon); J.D. Snoep (Jaapjan); N. Soranzo (Nicole); J.A. Spertus (John); K. Stark (Klaus); K. Stirrups (Kathy); M. Stoll (Monika); W.H.W. Tang (Wilson); S. Tennstedt (Stephanie); G. Thorgeirsson (Gudmundur); G. Thorleifsson (Gudmar); M. Tomaszewski; A.G. Uitterlinden (André); A.M. van Rij (Andre); B.F. Voight (Benjamin); N.J. Wareham (Nick); G.A. Wells (George); H.E. Wichmann (Heinz Erich); P.S. Wild (Philipp); C. Willenborg (Christina); J.C.M. Witteman (Jacqueline); B.J. Wright (Benjamin); S. Ye (Shu); T. Zeller (Tanja); A. Ziegler; F. Cambien (François); A.H. Goodall (Alison); L.A. Cupples (Adrienne); T. Quertermous (Thomas); W. Mäsignrz (Winfried); C. Hengstenberg (Christian); S. Blankenberg (Stefan); W.H. Ouwehand (Willem); A.S. Hall (Alistair); J.J.P. Kastelein (John); P. Deloukas (Panagiotis); J.R. Thompson (John); K. Stefansson (Kari); R. Roberts (Robert); U. Thorsteinsdottir (Unnur); C.J. O'Donnell (Christopher); R. McPherson (Ruth); J. Erdmann (Jeanette); N.J. Samani (Nilesh)

    2011-01-01

    textabstractWe performed a meta-analysis of 14 genome-wide association studies of coronary artery disease (CAD) comprising 22,233 individuals with CAD (cases) and 64,762 controls of European descent followed by genotyping of top association signals in 56,682 additional individuals. This analysis ide

  3. Network Analysis of Neurodegenerative Disease Highlights a Role of Toll-Like Receptor Signaling

    Directory of Open Access Journals (Sweden)

    Thanh-Phuong Nguyen

    2014-01-01

    Full Text Available Despite significant advances in the study of the molecular mechanisms altered in the development and progression of neurodegenerative diseases (NDs, the etiology is still enigmatic and the distinctions between diseases are not always entirely clear. We present an efficient computational method based on protein-protein interaction network (PPI to model the functional network of NDs. The aim of this work is fourfold: (i reconstruction of a PPI network relating to the NDs, (ii construction of an association network between diseases based on proximity in the disease PPI network, (iii quantification of disease associations, and (iv inference of potential molecular mechanism involved in the diseases. The functional links of diseases not only showed overlap with the traditional classification in clinical settings, but also offered new insight into connections between diseases with limited clinical overlap. To gain an expanded view of the molecular mechanisms involved in NDs, both direct and indirect connector proteins were investigated. The method uncovered molecular relationships that are in common apparently distinct diseases and provided important insight into the molecular networks implicated in disease pathogenesis. In particular, the current analysis highlighted the Toll-like receptor signaling pathway as a potential candidate pathway to be targeted by therapy in neurodegeneration.

  4. [Mathematic analysis of risk factors influence on occupational respiratory diseases development].

    Science.gov (United States)

    Budkar', L N; Bugaeva, I V; Obukhova, T Iu; Tereshina, L G; Karpova, E A; Shmonina, O G

    2010-01-01

    Analysis covered 1348 case histories of workers exposed to industrial dust in Urals region. The analysis applied mathematical processing of survival theory and correlation analysis. The authors studied influence of various factors: dust concentration, connective tissue dysplasia, smoking habits--on duration for diseases caused by dust to appear. Findings are that occupational diseases develop reliably faster with higher ambient dust concentrations and with connective tissue dysplasia syndrome. Smoking habits do not alter duration of pneumoconiosis development, but reliably increases development of occupational dust bronchitis.

  5. Verbal behavior in Alzheimer disease patients: Analysis of phrase repetition

    Directory of Open Access Journals (Sweden)

    Juliana Francisca Cecato

    Full Text Available Abstract Language problems in the elderly with AD are due to the fact that deterioration occurs not only in semantic memory, but in a group of cognitive factors, evidenced by a deficiency in search strategies for linguistic information. Objectives: To evaluate phrase repetition in two cognitive tests, the MMSE and MoCA, in a group of Alzheimer disease patients (AD and normal controls. Methods: A Cross-sectional study was conducted involving 20 patients who sought medical assistance at a geriatric institute in Jundiaí, São Paulo. The subjects underwent a detailed clinical examination and neuropsychometric evaluation. All subjects with AD met DSM-IV and NINCDS-ADRDA criteria. Ten patients received a diagnosis of AD and 10 were healthy subjects, forming the control group (CG. Results: All participants correctly answered the phrase from the MMSE (phrase 1. The MoCA phrases (phrases 2 and 3 were correct in 80% and 90%, respectively in the CG and in 40% and 50%, respectively in the AD group. Conclusions: The MoCA test proved more effective in evaluating the echoic behavior in AD patients compared to the MMSE. The simpler phrase repetition task in the MMSE was found to be less sensitive in detecting mild language decline in AD patients.

  6. Colorectal cancer surveillance in inflammatory bowel disease: A critical analysis

    Institute of Scientific and Technical Information of China (English)

    Devendra; Desai; Nutan; Desai

    2014-01-01

    Colonoscopic surveillance is advocated in patients with inflammatory bowel disease(IBD) for detection of dys-plasia. There are many issues regarding surveillance in IBD: the risk of colorectal cancer seems to be de-creasing in the majority of recently published studies, necessitating revisions of surveillance strategy; surveil-lance guidelines are not based on concrete evidence; commencement and frequency of surveillance, cost-effectiveness and adherence to surveillance have been issues that are only partly answered. The traditional technique of random biopsy is neither evidence-based nor easy to practice. Therefore, highlighting abnormal areas with newer technology and biopsy from these areas are the way forward. Of the newer technology, digital mucosal enhancement, such as high-definition white light endoscopy and chromoendoscopy(with magnification) have been incorporated in guidelines. Dyeless chromoendoscopy(narrow band imaging) has not yet shown potential, whereas some forms of digital chromoendoscopy(i-Scan more than Fujinon intelligent color enhancement) have shown promise for colonoscopic surveillance in IBD. Other techniquessuch as autofluorescence imaging, endomicroscopy and endocytoscopy need further evidence. Surveillance with genetic markers(tissue, serum or stool) is at an early stage. This article discusses changing epidemiology of colorectal cancer development in IBD and critically evaluates issues regarding colonoscopic surveillance in IBD.

  7. [Detection and analysis of ABO Hemolytic disease in newborn].

    Science.gov (United States)

    Lin, Zhao-Xia; Dong, Qing-Song

    2014-10-01

    This study was purposed to investigate the incidence and the model of ABO hemolytic disease in newborn (ABO-HDN) and the results of the three hemolysis test, so as to provide the evidences for clinical diagnosis and therapy. A total of 227 cases of maternal-fetal ABO incompatibility from January 2013 to October 2013 in the First Affiliated Hospital of Xiamen University were enrolled in the study. The ABO blood group of newborn and mother was detemined and three hemolysis tests (direct antiglobulin test, free antibody test, RBC antibody release test) were performed. The results indicated that in 227 cases of ABO incompatible pregnancies,186 cases were ABO-HDN (81.94%). There was no significant difference in the incidence between O-A and O-B incompatible pregnancies (P > 0.05). The positive ratio of direct antiglobulin test, free antibody test and RBC antibody release test were 59.14% (110/186), 84.78% (156/186) and 94.62% (176/186) respectively. It is concluded that the incidence of ABO-HDN is high. The main models of ABO-HDN were O-A and O-B. There was no significant difference in the incidence between O-A and O-B incompatible pregnancies. Three hemolysis tests are high sensitivity and are helpful in early diagnosis and early treatment of HDN.

  8. [Methods of the multivariate statistical analysis of so-called polyetiological diseases using the example of coronary heart disease].

    Science.gov (United States)

    Lifshits, A M

    1979-01-01

    General characteristics of the multivariate statistical analysis (MSA) is given. Methodical premises and criteria for the selection of an adequate MSA method applicable to pathoanatomic investigations of the epidemiology of multicausal diseases are presented. The experience of using MSA with computors and standard computing programs in studies of coronary arteries aterosclerosis on the materials of 2060 autopsies is described. The combined use of 4 MSA methods: sequential, correlational, regressional, and discriminant permitted to quantitate the contribution of each of the 8 examined risk factors in the development of aterosclerosis. The most important factors were found to be the age, arterial hypertension, and heredity. Occupational hypodynamia and increased fatness were more important in men, whereas diabetes melitus--in women. The registration of this combination of risk factors by MSA methods provides for more reliable prognosis of the likelihood of coronary heart disease with a fatal outcome than prognosis of the degree of coronary aterosclerosis.

  9. Shared genomic segment analysis: the power to find rare disease variants.

    Science.gov (United States)

    Knight, Stacey; Abo, Ryan P; Abel, Haley J; Neklason, Deborah W; Tuohy, Therese M; Burt, Randall W; Thomas, Alun; Camp, Nicola J

    2012-11-01

    Shared genomic segment (SGS) analysis uses dense single nucleotide polymorphism genotyping in high-risk (HR) pedigrees to identify regions of sharing between cases. Here, we illustrate the power of SGS to identify dominant rare risk variants. Using simulated pedigrees, we consider 12 disease models based on disease prevalence, minor allele frequency and penetrance to represent disease loci that explain 0.2-99.8% of total disease risk. Pedigrees were required to contain ≥ 15 meioses between all cases and to be HR based on significant excess of disease (P power for a single pedigree ranged widely. Nonetheless, fewer than 10 pedigrees were sufficient for excellent power in the majority of models. Power increased with the risk attributable to the disease locus, penetrance and the excess of disease in the pedigree. Sharing allowing for one sporadic case was uniformly more powerful than sharing using all cases. Furthermore, an SGS analysis using a large attenuated familial adenomatous polyposis pedigree identified a 1.96 Mb region containing the known causal APC gene with genome-wide significance. SGS is a powerful method for detecting rare variants and a valuable complement to genome-wide association studies and linkage analysis.

  10. Coexpression Analysis Reveals Key Gene Modules and Pathway of Human Coronary Heart Disease.

    Science.gov (United States)

    Tang, Yu; Ke, Zun-Ping; Peng, Yi-Gen; Cai, Ping-Tai

    2017-08-31

    Coronary heart disease is a kind of disease which causes great injury to people world-widely. Although gene expression analyses had been performed previously, to our best knowledge, systemic co-expression analysis for this disease is still lacking to date. Microarray data of coronary heart disease was downloaded from NCBI with the accession number of GSE20681. Co-expression modules were constructed by WGCNA. Besides, the connectivity degree of eigengenes was analyzed. Furthermore, GO and KEGG enrichment analysis was performed on these eigengenes in these constructed modules. A total of 11 co-expression modules were constructed by the 3,000 up-regulated genes from the 99 samples with coronary heart disease. The average number of genes in these modules was 270. The interaction analysis indicated the relative independence of gene expression in these modules. The functional enrichment analysis showed that there was a significant difference in the enriched terms and degree among these 11 modules. The results showed that module 9 and module 10 played critical roles in the occurrence of coronary disease. Pathways of hsa00190(Oxidative phosphorylation)and (hsa01130: Biosynthesis of antibiotics) were thought to be closely related to the occurrence and development of coronary heart disease. Our result demonstrated that module 9 and module 10 were the most critical modules in the occurrence of coronary heart disease. Pathways as hsa00190(Oxidative phosphorylation) and (hsa01130: Biosynthesis of antibiotics) had the potential to serve as the prognostic and predictive marker of coronary heart disease. This article is protected by copyright. All rights reserved. This article is protected by copyright. All rights reserved.

  11. DISEASES

    DEFF Research Database (Denmark)

    Pletscher-Frankild, Sune; Pallejà, Albert; Tsafou, Kalliopi;

    2015-01-01

    Text mining is a flexible technology that can be applied to numerous different tasks in biology and medicine. We present a system for extracting disease-gene associations from biomedical abstracts. The system consists of a highly efficient dictionary-based tagger for named entity recognition...... of human genes and diseases, which we combine with a scoring scheme that takes into account co-occurrences both within and between sentences. We show that this approach is able to extract half of all manually curated associations with a false positive rate of only 0.16%. Nonetheless, text mining should...... not stand alone, but be combined with other types of evidence. For this reason, we have developed the DISEASES resource, which integrates the results from text mining with manually curated disease-gene associations, cancer mutation data, and genome-wide association studies from existing databases...

  12. Cardiovascular disease risk among breast cancer survivors: an evolutionary concept analysis

    Directory of Open Access Journals (Sweden)

    Vo JB

    2017-02-01

    Full Text Available Jacqueline B Vo,1 Timiya S Nolan,1 David E Vance,1 Patricia A Patrician,2 Karen Meneses1 1Office of Research and Scholarship, 2Department of Family, Community Health, and Systems, University of Alabama at Birmingham School of Nursing, Birmingham, AL, USA Background: More than 3.5 million breast cancer survivors are living in the US, and the overall five-year survival rate is approaching 90%. With increased survival and cancer treatment-related cardiotoxicities, there has been a rise in cardiovascular diseases among breast cancer survivors. Yet, cardiovascular disease risk among breast cancer survivors has not been well conceptualized. The purpose of this article was to analyze and define the concept of cardiovascular disease risk among breast cancer survivors. Methods: The databases CINAHL, EMBASE, and PubMed were used to identify articles that explored cardiovascular disease risk among breast cancer survivors. The search yielded 357 articles, which were reviewed for eligibility. Thirty articles were selected based on the inclusion/exclusion criteria. The concept of cardiovascular disease risk among breast cancer survivors was analyzed using Rodgers’ evolutionary concept analysis method. Results: The analysis suggests that cardiovascular disease risk among breast cancer survivors consists of several attributes: cancer treatment (chemotherapy, targeted therapies, radiation therapy, and endocrine therapy, modifiable risk factors (obesity, physical inactivity, poor diet, and smoking, and nonmodifiable risk factors (age, family history, and race. The antecedent identified includes breast cancer diagnosis and the consequence identified includes the development of cardiovascular disease. Conclusion: Findings suggest the need for increased education and understanding of ­cardiovascular disease risk among health care providers and patients. Survivorship care plans can incorporate cardiovascular disease risk monitoring and screening. Future research

  13. Association factor analysis between osteoporosis with cerebral artery disease: The STROBE study.

    Science.gov (United States)

    Jin, Eun-Sun; Jeong, Je Hoon; Lee, Bora; Im, Soo Bin

    2017-03-01

    The purpose of this study was to determine the clinical association factors between osteoporosis and cerebral artery disease in Korean population. Two hundred nineteen postmenopausal women and men undergoing cerebral computed tomography angiography were enrolled in this study to evaluate the cerebral artery disease by cross-sectional study. Cerebral artery disease was diagnosed if there was narrowing of 50% higher diameter in one or more cerebral vessel artery or presence of vascular calcification. History of osteoporotic fracture was assessed using medical record, and radiographic data such as simple radiography, MRI, and bone scan. Bone mineral density was checked by dual-energy x-ray absorptiometry. We reviewed clinical characteristics in all patients and also performed subgroup analysis for total or extracranial/ intracranial cerebral artery disease group retrospectively. We performed statistical analysis by means of chi-square test or Fisher's exact test for categorical variables and Student's t-test or Wilcoxon's rank sum test for continuous variables. We also used univariate and multivariate logistic regression analyses were conducted to assess the factors associated with the prevalence of cerebral artery disease. A two-tailed p-value of less than 0.05 was considered as statistically significant. All statistical analyses were performed using R (version 3.1.3; The R Foundation for Statistical Computing, Vienna, Austria) and SPSS (version 14.0; SPSS, Inc, Chicago, Ill, USA). Of the 219 patients, 142 had cerebral artery disease. All vertebral fracture was observed in 29 (13.24%) patients. There was significant difference in hip fracture according to the presence or absence of cerebral artery disease. In logistic regression analysis, osteoporotic hip fracture was significantly associated with extracranial cerebral artery disease after adjusting for multiple risk factors. Females with osteoporotic hip fracture were associated with total calcified cerebral artery

  14. Diagnosis and Classification of 17 Diseases from 1404 Subjects via Pattern Analysis of Exhaled Molecules.

    Science.gov (United States)

    Nakhleh, Morad K; Amal, Haitham; Jeries, Raneen; Broza, Yoav Y; Aboud, Manal; Gharra, Alaa; Ivgi, Hodaya; Khatib, Salam; Badarneh, Shifaa; Har-Shai, Lior; Glass-Marmor, Lea; Lejbkowicz, Izabella; Miller, Ariel; Badarny, Samih; Winer, Raz; Finberg, John; Cohen-Kaminsky, Sylvia; Perros, Frédéric; Montani, David; Girerd, Barbara; Garcia, Gilles; Simonneau, Gérald; Nakhoul, Farid; Baram, Shira; Salim, Raed; Hakim, Marwan; Gruber, Maayan; Ronen, Ohad; Marshak, Tal; Doweck, Ilana; Nativ, Ofer; Bahouth, Zaher; Shi, Da-You; Zhang, Wei; Hua, Qing-Ling; Pan, Yue-Yin; Tao, Li; Liu, Hu; Karban, Amir; Koifman, Eduard; Rainis, Tova; Skapars, Roberts; Sivins, Armands; Ancans, Guntis; Liepniece-Karele, Inta; Kikuste, Ilze; Lasina, Ieva; Tolmanis, Ivars; Johnson, Douglas; Millstone, Stuart Z; Fulton, Jennifer; Wells, John W; Wilf, Larry H; Humbert, Marc; Leja, Marcis; Peled, Nir; Haick, Hossam

    2017-01-24

    We report on an artificially intelligent nanoarray based on molecularly modified gold nanoparticles and a random network of single-walled carbon nanotubes for noninvasive diagnosis and classification of a number of diseases from exhaled breath. The performance of this artificially intelligent nanoarray was clinically assessed on breath samples collected from 1404 subjects having one of 17 different disease conditions included in the study or having no evidence of any disease (healthy controls). Blind experiments showed that 86% accuracy could be achieved with the artificially intelligent nanoarray, allowing both detection and discrimination between the different disease conditions examined. Analysis of the artificially intelligent nanoarray also showed that each disease has its own unique breathprint, and that the presence of one disease would not screen out others. Cluster analysis showed a reasonable classification power of diseases from the same categories. The effect of confounding clinical and environmental factors on the performance of the nanoarray did not significantly alter the obtained results. The diagnosis and classification power of the nanoarray was also validated by an independent analytical technique, i.e., gas chromatography linked with mass spectrometry. This analysis found that 13 exhaled chemical species, called volatile organic compounds, are associated with certain diseases, and the composition of this assembly of volatile organic compounds differs from one disease to another. Overall, these findings could contribute to one of the most important criteria for successful health intervention in the modern era, viz. easy-to-use, inexpensive (affordable), and miniaturized tools that could also be used for personalized screening, diagnosis, and follow-up of a number of diseases, which can clearly be extended by further development.

  15. A New Data Analysis System to Quantify Associations between Biochemical Parameters of Chronic Kidney Disease-Mineral Bone Disease.

    Directory of Open Access Journals (Sweden)

    Mariano Rodriguez

    Full Text Available In hemodialysis patients, deviations from KDIGO recommended values of individual parameters, phosphate, calcium or parathyroid hormone (PTH, are associated with increased mortality. However, it is widely accepted that these parameters are not regulated independently of each other and that therapy aimed to correct one parameter often modifies the others. The aim of the present study is to quantify the degree of association between parameters of chronic kidney disease and mineral bone disease (CKD-MBD.Data was extracted from a cohort of 1758 adult HD patients between January 2000 and June 2013 obtaining a total of 46.141 records (10 year follow-up. We used an advanced data analysis system called Random Forest (RF which is based on self-learning procedure with similar axioms to those utilized for the development of artificial intelligence. This new approach is particularly useful when the variables analyzed are closely dependent to each other.The analysis revealed a strong association between PTH and phosphate that was superior to that of PTH and Calcium. The classical linear regression analysis between PTH and phosphate shows a correlation coefficient is 0.27, p<0.001, the possibility to predict PTH changes from phosphate modification is marginal. Alternatively, RF assumes that changes in phosphate will cause modifications in other associated variables (calcium and others that may also affect PTH values. Using RF the correlation coefficient between changes in serum PTH and phosphate is 0.77, p<0.001; thus, the power of prediction is markedly increased. The effect of therapy on biochemical variables was also analyzed using this RF.Our results suggest that the analysis of the complex interactions between mineral metabolism parameters in CKD-MBD may demand a more advanced data analysis system such as RF.

  16. Vitamin B6: deficiency diseases and methods of analysis.

    Science.gov (United States)

    Ahmad, Iqbal; Mirza, Tania; Qadeer, Kiran; Nazim, Urooj; Vaid, Faiyaz Hm

    2013-09-01

    Vitamin B6 (pyridoxine) is closely associated with the functions of the nervous, immune and endocrine systems. It also participates in the metabolic processes of proteins, lipids and carbohydrates. Pyridoxine deficiency may result in neurological disorders including convulsions and epileptic encephalopathy and may lead to infant abnormalities. The Intravenous administration of pyridoxine to patients results in a dramatic cessation of seizures. A number of analytical methods were developed for the determination of pyridoxine in different dosage forms, food materials and biological fluids. These include UV spectrometric, spectrofluorimetric, mass spectrometric, thin-layer and high-performance liquid chromatographic, electrophoretic, electrochemical and enzymatic methods. Most of these methods are capable of determining pyridoxine in the presence of other vitamins and complex systems in µg quantities. The development and applications of these methods in pharmaceutical and clinical analysis mostly during the last decade have been reviewed.

  17. UKRAINIAN FOUNTAINS OPEN HEARTH INFECTIOUS DISEASES: CAUSES, SITUATION ANALYSIS, SOLUTION

    Directory of Open Access Journals (Sweden)

    Moskovkin V.M.

    2011-06-01

    Full Text Available The paper examined the causal links that explain the pattern of contamination of water systems of water recycling fountains by pathogens and proved the rreversibility of the formation of the path of infection of domestic population of by airborne droplets, formed by microbial fogs. Studies of microbiolodical contamination of water allowed to obtain informative features for preliminary analysis of epidemiological danger of fountains and provided an opportunity to identify the dominant factor – high levels of Mycobacterium tuberculosis in aerosol droplets. On the basis of the collected databases were formulated technical conditions to ensure the security of the collected databases were formulated technical conditions to ensure the security of citizens from all possible negative impacts of fountains, realized in the form of water disinfection technology working with silver and copper, which consistent with international sanitary rules, regulations Ministry of Health Care of Ukraine and environmental legislation.

  18. Breath analysis as a potential and non-invasive frontier in disease diagnosis: an overview.

    Science.gov (United States)

    Pereira, Jorge; Porto-Figueira, Priscilla; Cavaco, Carina; Taunk, Khushman; Rapole, Srikanth; Dhakne, Rahul; Nagarajaram, Hampapathalu; Câmara, José S

    2015-01-09

    Currently, a small number of diseases, particularly cardiovascular (CVDs), oncologic (ODs), neurodegenerative (NDDs), chronic respiratory diseases, as well as diabetes, form a severe burden to most of the countries worldwide. Hence, there is an urgent need for development of efficient diagnostic tools, particularly those enabling reliable detection of diseases, at their early stages, preferably using non-invasive approaches. Breath analysis is a non-invasive approach relying only on the characterisation of volatile composition of the exhaled breath (EB) that in turn reflects the volatile composition of the bloodstream and airways and therefore the status and condition of the whole organism metabolism. Advanced sampling procedures (solid-phase and needle traps microextraction) coupled with modern analytical technologies (proton transfer reaction mass spectrometry, selected ion flow tube mass spectrometry, ion mobility spectrometry, e-noses, etc.) allow the characterisation of EB composition to an unprecedented level. However, a key challenge in EB analysis is the proper statistical analysis and interpretation of the large and heterogeneous datasets obtained from EB research. There is no standard statistical framework/protocol yet available in literature that can be used for EB data analysis towards discovery of biomarkers for use in a typical clinical setup. Nevertheless, EB analysis has immense potential towards development of biomarkers for the early disease diagnosis of diseases.

  19. Breath Analysis as a Potential and Non-Invasive Frontier in Disease Diagnosis: An Overview

    Directory of Open Access Journals (Sweden)

    Jorge Pereira

    2015-01-01

    Full Text Available Currently, a small number of diseases, particularly cardiovascular (CVDs, oncologic (ODs, neurodegenerative (NDDs, chronic respiratory diseases, as well as diabetes, form a severe burden to most of the countries worldwide. Hence, there is an urgent need for development of efficient diagnostic tools, particularly those enabling reliable detection of diseases, at their early stages, preferably using non-invasive approaches. Breath analysis is a non-invasive approach relying only on the characterisation of volatile composition of the exhaled breath (EB that in turn reflects the volatile composition of the bloodstream and airways and therefore the status and condition of the whole organism metabolism. Advanced sampling procedures (solid-phase and needle traps microextraction coupled with modern analytical technologies (proton transfer reaction mass spectrometry, selected ion flow tube mass spectrometry, ion mobility spectrometry, e-noses, etc. allow the characterisation of EB composition to an unprecedented level. However, a key challenge in EB analysis is the proper statistical analysis and interpretation of the large and heterogeneous datasets obtained from EB research. There is no standard statistical framework/protocol yet available in literature that can be used for EB data analysis towards discovery of biomarkers for use in a typical clinical setup. Nevertheless, EB analysis has immense potential towards development of biomarkers for the early disease diagnosis of diseases.

  20. 76 FR 44503 - Availability of a Risk Analysis Evaluating the Foot-and-Mouth Disease Status of Japan

    Science.gov (United States)

    2011-07-26

    ... Analysis Evaluating the Foot-and-Mouth Disease Status of Japan AGENCY: Animal and Plant Health Inspection... concerning the foot-and-mouth disease (FMD) status of Japan and the risk of susceptible animals and animal... animal diseases, including rinderpest and foot-and-mouth disease (FMD). Section 94.1 of the......

  1. Blood gas analysis in dogs with pulmonary heartworm disease.

    Science.gov (United States)

    Kitagawa, H; Yasuda, K; Sasaki, Y

    1993-04-01

    Blood gases were analyzed in dogs with pulmonary heartworm (HW) disease. The arterial oxygen tension (PaO2) in dogs with mild signs of dirofilariasis (mildly affected group, n = 48, 85.7 +/- 8.2 mmHg) and in dogs with signs of right heart failure (severely affected group, n = 13, 76.4 +/- 11.6 mmHg) was lower (p < 0.01) than in dogs without HW infection (HW-free group, n = 19, 91.5 +/- 7.3 mmHg). Only 2 dogs in the severely affected group had a PaO2 less than 60 mmHg. The arterial carbon dioxide tension (PaCO2, p < 0.01) and mixed venous O2 (p < 0.01) and CO2 (p < 0.01) tensions were lower, and alveolar-arterial oxygen difference (AaDO2, p < 0.01) was greater in the severely affected group than in the HW-free and mildly affected groups. Arterial pH and bicarbonate (HCO3-) concentrations were lower (p < 0.01) in both affected groups than in the HW-free groups. The anion gap level was not different among the 3 groups. Serum lactic acid level in the severely affected group was higher (p < 0.01) than in the HW-free and mildly affected groups. However, a slightly higher serum lactic acid concentration was found only in 2 dogs of the severely affected group (3.84 mmol/l and 3.82 mmol/l). The PaO2 (r = -0.62) and AaDO2 (r = 0.66) correlated significantly (p < 0.01) with mean pulmonary arterial pressure. One week after HW removal, blood gases, pH and HCO3- concentration remained unchanged in the mildly affected group. In the severely affected group, blood gas values were the same, but pH and HCO3- concentration improved slightly.

  2. Systematic review with meta-analysis: associations between coeliac disease and type 1 diabetes.

    Science.gov (United States)

    Elfström, P; Sundström, J; Ludvigsson, J F

    2014-11-01

    In the past decade, a number of population-based studies have examined the prevalence of coeliac disease in individuals with type 1 diabetes but prevalences have differed considerably. To examine the prevalence of coeliac disease in individuals with type 1 diabetes. A systematic review of English-language articles published in PubMed Medline between 2000 and May 2014. Search terms included 'celiac disease' or 'coeliac disease' and 'diabetes mellitus'. Studies were selected with at least 100 individuals with type 1 diabetes being screened for coeliac disease where the coeliac diagnosis was later confirmed through small intestinal biopsy. Data synthesis used random-effects inverse variance-weighted models, and metaregression was used to examine heterogeneity in subgroups. A pooled analysis, based on 26,605 patients with type 1 diabetes, found a prevalence of biopsy-confirmed coeliac disease of 6.0% (95% CI = 5.0-6.9%). Heterogeneity was large (I(2) = 93.2%). The prevalence was lower in adults with type 1 diabetes (2.7%), and in mixed populations with both children and adults with type 1 diabetes (4.7%) than in children (6.2%) with type 1 diabetes (P coeliac disease prevalence between studies. More than one in twenty patients with type 1 diabetes have biopsy-verified coeliac disease. This prevalence is high enough to motivate screening for coeliac disease among patients with type 1 diabetes. © 2014 John Wiley & Sons Ltd.

  3. Analysis of the human diseasome using phenotype similarity between common, genetic, and infectious diseases

    Science.gov (United States)

    Hoehndorf, Robert; Schofield, Paul N.; Gkoutos, Georgios V.

    2015-06-01

    Phenotypes are the observable characteristics of an organism arising from its response to the environment. Phenotypes associated with engineered and natural genetic variation are widely recorded using phenotype ontologies in model organisms, as are signs and symptoms of human Mendelian diseases in databases such as OMIM and Orphanet. Exploiting these resources, several computational methods have been developed for integration and analysis of phenotype data to identify the genetic etiology of diseases or suggest plausible interventions. A similar resource would be highly useful not only for rare and Mendelian diseases, but also for common, complex and infectious diseases. We apply a semantic text-mining approach to identify the phenotypes (signs and symptoms) associated with over 6,000 diseases. We evaluate our text-mined phenotypes by demonstrating that they can correctly identify known disease-associated genes in mice and humans with high accuracy. Using a phenotypic similarity measure, we generate a human disease network in which diseases that have similar signs and symptoms cluster together, and we use this network to identify closely related diseases based on common etiological, anatomical as well as physiological underpinnings.

  4. Analysis of the human diseasome using phenotype similarity between common, genetic, and infectious diseases

    KAUST Repository

    Hoehndorf, Robert

    2015-06-08

    Phenotypes are the observable characteristics of an organism arising from its response to the environment. Phenotypes associated with engineered and natural genetic variation are widely recorded using phenotype ontologies in model organisms, as are signs and symptoms of human Mendelian diseases in databases such as OMIM and Orphanet. Exploiting these resources, several computational methods have been developed for integration and analysis of phenotype data to identify the genetic etiology of diseases or suggest plausible interventions. A similar resource would be highly useful not only for rare and Mendelian diseases, but also for common, complex and infectious diseases. We apply a semantic text-mining approach to identify the phenotypes (signs and symptoms) associated with over 6,000 diseases. We evaluate our text-mined phenotypes by demonstrating that they can correctly identify known disease-associated genes in mice and humans with high accuracy. Using a phenotypic similarity measure, we generate a human disease network in which diseases that have similar signs and symptoms cluster together, and we use this network to identify closely related diseases based on common etiological, anatomical as well as physiological underpinnings.

  5. Graph theoretical analysis and application of fMRI-based brain network in Alzheimer's disease

    Directory of Open Access Journals (Sweden)

    LIU Xue-na

    2012-08-01

    Full Text Available Alzheimer's disease (AD, a progressive neurodegenerative disease, is clinically characterized by impaired memory and many other cognitive functions. However, the pathophysiological mechanisms underlying the disease are not thoroughly understood. In recent years, using functional magnetic resonance imaging (fMRI as well as advanced graph theory based network analysis approach, several studies of patients with AD suggested abnormal topological organization in both global and regional properties of functional brain networks, specifically, as demonstrated by a loss of small-world network characteristics. These studies provide novel insights into the pathophysiological mechanisms of AD and could be helpful in developing imaging biomarkers for disease diagnosis. In this paper we introduce the essential concepts of complex brain networks theory, and review recent advances of the study on human functional brain networks in AD, especially focusing on the graph theoretical analysis of small-world network based on fMRI. We also propound the existent problems and research orientation.

  6. Physiotherapy intervention in Parkinson's disease: systematic review and meta-analysis

    OpenAIRE

    Tomlinson, CL; Patel, S.; Meek, C.; Herd, CP; Clarke, CE; Stowe, R; Shah, L; Sackley, C.; Deane, KHO; Wheatley, K; Ives, N

    2012-01-01

    Objective To assess the effectiveness of physiotherapy compared with no intervention in patients with Parkinson’s disease. Design Systematic review and meta-analysis of randomised controlled trials. Data sources Literature databases, trial registries, journals, abstract books, and conference proceedings, and reference lists, searched up to the end of January 2012. Review methods Randomised controlled trials comparing physiotherapy with no intervention in patients with Parkinson’s disease were...

  7. Objective and subjective analysis of women's voice with idiopathic Parkinson's disease

    Directory of Open Access Journals (Sweden)

    Riviana Rodrigues das Graças

    2012-07-01

    Full Text Available OBJECTIVE: To compare the voice quality of women with idiopathic Parkinson's disease and those without it. METHODS: An evaluation was performed including 19 female patients diagnosed with idiopathic Parkinson's disease, with an average age of 66 years, and 27 women with an average of 67 years-old in the Control Group. The assessment was performed by computed acoustic analysis and perceptual evaluation. RESULTS: Parkinson's disease patients presented moderate rough and unstable voice quality. The parameters of grade, roughness, and instability had higher scores in Parkinson's disease patients with statistically significant differences. Acoustic measures of Jitter and period perturbation quotient (PPQ significantly differ between groups. CONCLUSIONS: Parkinson's disease female individuals showed more vocal alterations compared to the Control Group, when both perceptual and acoustic evaluations were analyzed.

  8. Re-visiting Luck's classification: a histological analysis of Dupuytren's disease.

    Science.gov (United States)

    Lam, W L; Rawlins, J M; Karoo, R O S; Naylor, I; Sharpe, D T

    2010-05-01

    Luck (1959) described a histological staging system for Dupuytren's disease, classifying the disease into three stages. Previous biochemical and immunochemical studies have detailed the decrease in type III/I collagen ratio with disease progression. Herovici (1963) described a histological stain that produced a differential red/purple and blue colour for type I and III collagen respectively. We stained 15 specimens of Dupuytren's disease and quantified the different collagen types in each using computer analysis. We found a corresponding decrease in the amount of type III collagen as a percentage of the total collagen with disease progression: stage I range 35-49% (mean 38%); stage 2 range 21-33% (mean 27%) and stage 3 range 11-19% (mean 14%). We propose a new staging system based on the relative amount of type III collagen, where stage 1: >35%, stage 2: >20% and <35%, and stage 3: <20%.

  9. Uncertainty Analysis in Population-Based Disease Microsimulation Models

    Directory of Open Access Journals (Sweden)

    Behnam Sharif

    2012-01-01

    Full Text Available Objective. Uncertainty analysis (UA is an important part of simulation model validation. However, literature is imprecise as to how UA should be performed in the context of population-based microsimulation (PMS models. In this expository paper, we discuss a practical approach to UA for such models. Methods. By adapting common concepts from published UA guidelines, we developed a comprehensive, step-by-step approach to UA in PMS models, including sample size calculation to reduce the computational time. As an illustration, we performed UA for POHEM-OA, a microsimulation model of osteoarthritis (OA in Canada. Results. The resulting sample size of the simulated population was 500,000 and the number of Monte Carlo (MC runs was 785 for 12-hour computational time. The estimated 95% uncertainty intervals for the prevalence of OA in Canada in 2021 were 0.09 to 0.18 for men and 0.15 to 0.23 for women. The uncertainty surrounding the sex-specific prevalence of OA increased over time. Conclusion. The proposed approach to UA considers the challenges specific to PMS models, such as selection of parameters and calculation of MC runs and population size to reduce computational burden. Our example of UA shows that the proposed approach is feasible. Estimation of uncertainty intervals should become a standard practice in the reporting of results from PMS models.

  10. Metabolic disease risk in children by salivary biomarker analysis.

    Science.gov (United States)

    Goodson, J Max; Kantarci, Alpdogan; Hartman, Mor-Li; Denis, Gerald V; Stephens, Danielle; Hasturk, Hatice; Yaskell, Tina; Vargas, Jorel; Wang, Xiaoshan; Cugini, Maryann; Barake, Roula; Alsmadi, Osama; Al-Mutawa, Sabiha; Ariga, Jitendra; Soparkar, Pramod; Behbehani, Jawad; Behbehani, Kazem; Welty, Francine

    2014-01-01

    The study of obesity-related metabolic syndrome or Type 2 diabetes (T2D) in children is particularly difficult because of fear of needles. We tested a non-invasive approach to study inflammatory parameters in an at-risk population of children to provide proof-of-principle for future investigations of vulnerable subjects. We evaluated metabolic differences in 744, 11-year old children selected from underweight, normal healthy weight, overweight and obese categories by analyzing fasting saliva samples for 20 biomarkers. Saliva supernatants were obtained following centrifugation and used for analyses. Salivary C-reactive protein (CRP) was 6 times higher, salivary insulin and leptin were 3 times higher, and adiponectin was 30% lower in obese children compared to healthy normal weight children (all P<0.0001). Categorical analysis suggested that there might be three types of obesity in children. Distinctly inflammatory characteristics appeared in 76% of obese children while in 13%, salivary insulin was high but not associated with inflammatory mediators. The remaining 11% of obese children had high insulin and reduced adiponectin. Forty percent of the non-obese children were found in groups which, based on biomarker characteristics, may be at risk for becoming obese. Significantly altered levels of salivary biomarkers in obese children from a high-risk population, suggest the potential for developing non-invasive screening procedures to identify T2D-vulnerable individuals and a means to test preventative strategies.

  11. Metabolic disease risk in children by salivary biomarker analysis.

    Directory of Open Access Journals (Sweden)

    J Max Goodson

    Full Text Available OBJECTIVE: The study of obesity-related metabolic syndrome or Type 2 diabetes (T2D in children is particularly difficult because of fear of needles. We tested a non-invasive approach to study inflammatory parameters in an at-risk population of children to provide proof-of-principle for future investigations of vulnerable subjects. DESIGN AND METHODS: We evaluated metabolic differences in 744, 11-year old children selected from underweight, normal healthy weight, overweight and obese categories by analyzing fasting saliva samples for 20 biomarkers. Saliva supernatants were obtained following centrifugation and used for analyses. RESULTS: Salivary C-reactive protein (CRP was 6 times higher, salivary insulin and leptin were 3 times higher, and adiponectin was 30% lower in obese children compared to healthy normal weight children (all P<0.0001. Categorical analysis suggested that there might be three types of obesity in children. Distinctly inflammatory characteristics appeared in 76% of obese children while in 13%, salivary insulin was high but not associated with inflammatory mediators. The remaining 11% of obese children had high insulin and reduced adiponectin. Forty percent of the non-obese children were found in groups which, based on biomarker characteristics, may be at risk for becoming obese. CONCLUSIONS: Significantly altered levels of salivary biomarkers in obese children from a high-risk population, suggest the potential for developing non-invasive screening procedures to identify T2D-vulnerable individuals and a means to test preventative strategies.

  12. Elemental analysis of occupational and environmental lung diseases by electron probe microanalyzer with wavelength dispersive spectrometer.

    Science.gov (United States)

    Takada, Toshinori; Moriyama, Hiroshi; Suzuki, Eiichi

    2014-01-01

    Occupational and environmental lung diseases are a group of pulmonary disorders caused by inhalation of harmful particles, mists, vapors or gases. Mineralogical analysis is not generally required in the diagnosis of most cases of these diseases. Apart from minerals that are encountered rarely or only in specific occupations, small quantities of mineral dusts are present in the healthy lung. As such when mineralogical analysis is required, quantitative or semi-quantitative methods must be employed. An electron probe microanalyzer with wavelength dispersive spectrometer (EPMA-WDS) enables analysis of human lung tissue for deposits of elements by both qualitative and semi-quantitative methods. Since 1993, we have analyzed 162 cases of suspected occupational and environmental lung diseases using an EPMA-WDS. Our institute has been accepting online requests for elemental analysis of lung tissue samples by EPMA-WDS since January 2011. Hard metal lung disease is an occupational interstitial lung disease that primarily affects workers exposed to the dust of tungsten carbide. The characteristic pathological findings of the disease are giant cell interstitial pneumonia (GIP) with centrilobular fibrosis, surrounded by mild alveolitis with giant cells within the alveolar space. EPMA-WDS analysis of biopsied lung tissue from patients with GIP has demonstrated that tungsten and/or cobalt is distributed in the giant cells and centrilobular fibrosing lesion in GIP. Pneumoconiosis, caused by amorphous silica, and acute interstitial pneumonia, associated with the giant tsunami, were also elementally analyzed by EPMA-WDS. The results suggest that commonly found elements, such as silicon, aluminum, and iron, may cause occupational and environmental lung diseases.

  13. Meta-analysis on the efficacy of foot-and-mouth disease emergency vaccination

    DEFF Research Database (Denmark)

    Hisham Beshara Halasa, Tariq; Boklund, Anette; Cox, S.

    2012-01-01

    The objectives of this study were to provide a summary quantification of the efficacy of FMD emergency vaccination based on a systematic review and a meta-analysis of available literature, and to further discuss the suitability of this review and meta-analysis to summarize and further interpret...... the results. Peer-reviewed, symposium, and unpublished studies were considered in the analysis. Clinical protection and virological protection against foot and mouth disease were used as parameters to assess the efficacy of emergency vaccination. The clinical protection was estimated based on the appearance...... vaccine. Fortunately, no significant bias that would alter the conclusions was encountered in the analysis. Meta-analysis showed to be a useful tool to summarize literature results from a systematic review of the efficacy of foot and mouth disease emergency vaccination....

  14. Meta-analysis on the efficacy of foot-and-mouth disease emergency vaccination

    DEFF Research Database (Denmark)

    Hisham Beshara Halasa, Tariq; Boklund, Anette; Cox, Sarah

    2011-01-01

    The objectives of this study were to provide a summary quantification of the efficacy of FMD emergency vaccination based on a systematic review and a meta-analysis of available literature, and to further discuss the suitability of this review and meta-analysis to summarize and further interpret...... the results. Peer-reviewed, symposium, and unpublished studies were considered in the analysis. Clinical protection and virological protection against foot and mouth disease were used as parameters to assess the efficacy of emergency vaccination. The clinical protection was estimated based on the appearance...... vaccine. Fortunately, no significant bias that would alter the conclusions was encountered in the analysis. Meta-analysis can be a useful tool to summarize literature results from a systematic review of the efficacy of foot and mouth disease emergency vaccination....

  15. The correlation of lymphocyte subsets, natural killer cell, and Parkinson's disease: a meta-analysis.

    Science.gov (United States)

    Jiang, Sen; Gao, Hua; Luo, Qin; Wang, Pengfei; Yang, Xinling

    2017-08-01

    The correlation between immunity and Parkinson's disease was presented in many papers, which also discussed lymphocyte and natural killer cell. But these studies have yielded inconsistent results. To systematically review the relationship between the lymphocyte subsets/natural killer cell and the risk of Parkinson's disease, we electronically searched the SpringerLink, Web of Science, Ebsco-medline with full text, Pubmed, Elsevier-ScienceDirect, Ovid-lww-oup, Wanfang Data for case-control trials on comparing the number of peripheral blood lymphocyte subsets and natural killer cell in Parkinson's patients and healthy controls. According to the Cochrane methods, the reviewers selected literature, extracted data, and assessed the quality. Then, a meta-analysis was performed using RevMan 5.2. Finally, 21 case-control trials including 943 cases of Parkinson's disease were fit into our data analysis. Meta-analysis showed that the decreased numbers of CD3+, CD4+ lymphocyte subsets and the increased number of natural killer cell were found in Parkinson's disease patients. In the intermediate and late stage of PD, CD8+ lymphocyte subsets had a significant decrement. However, the number of B lymphocyte subsets had no significant association with Parkinson's disease. The lymphocyte subsets and NK cell may be associated with the risk of Parkinson's disease.

  16. Alzheimer's Disease is an Important Risk Factor of Fractures: a Meta-analysis of Cohort Studies.

    Science.gov (United States)

    Liang, Ying; Wang, Lei

    2016-04-12

    The risk of fracture in individuals with Alzheimer's disease had not been fully quantified. A systematic review and meta-analysis of cohort studies was performed to estimate the impact of Alzheimer's disease on risk of fractures. Pubmed and Embase were searched for eligible cohort studies assessing the association between Alzheimer's disease and risk of fractures. The overall relative risks (RRs) with 95% CIs were calculated using a random-effects model to evaluate the association. Six cohort studies with a total of 137,986 participants were included into the meta-analysis. Meta-analysis of a total of six studies showed that Alzheimer's disease was significantly associated with two-fold increased risk of fractures (RR = 2.18, 95 % CI 1.64-2.90, P Alzheimer's disease was significantly associated with 2.5-fold increased risk of hip fracture (RR = 2.52, 95 % CI 2.26-2.81, P Alzheimer's disease is a risk factor of hip fracture.

  17. Multi-Channel neurodegenerative pattern analysis and its application in Alzheimer's disease characterization.

    Science.gov (United States)

    Liu, Sidong; Cai, Weidong; Wen, Lingfeng; Feng, David Dagan; Pujol, Sonia; Kikinis, Ron; Fulham, Michael J; Eberl, Stefan

    2014-09-01

    Neuroimaging has played an important role in non-invasive diagnosis and differentiation of neurodegenerative disorders, such as Alzheimer's disease and Mild Cognitive Impairment. Various features have been extracted from the neuroimaging data to characterize the disorders, and these features can be roughly divided into global and local features. Recent studies show a tendency of using local features in disease characterization, since they are capable of identifying the subtle disease-specific patterns associated with the effects of the disease on human brain. However, problems arise if the neuroimaging database involved multiple disorders or progressive disorders, as disorders of different types or at different progressive stages might exhibit different degenerative patterns. It is difficult for the researchers to reach consensus on what brain regions could effectively distinguish multiple disorders or multiple progression stages. In this study we proposed a Multi-Channel pattern analysis approach to identify the most discriminative local brain metabolism features for neurodegenerative disorder characterization. We compared our method to global methods and other pattern analysis methods based on clinical expertise or statistics tests. The preliminary results suggested that the proposed Multi-Channel pattern analysis method outperformed other approaches in Alzheimer's disease characterization, and meanwhile provided important insights into the underlying pathology of Alzheimer's disease and Mild Cognitive Impairment.

  18. 3-hydroxykynurenine and other Parkinson's disease biomarkers discovered by metabolomic analysis.

    Science.gov (United States)

    Lewitt, Peter A; Li, Jia; Lu, Mei; Beach, Thomas G; Adler, Charles H; Guo, Lining

    2013-10-01

    Parkinson's disease (PD) biomarkers are needed to enhance therapeutics research and to understand PD pathogenesis. Methods that simultaneously measure hundreds of small molecular-weight compounds-metabolomic analysis-"fingerprint" disease-specific alterations in individual compounds or metabolic pathways. Beyond a nontargeted search for PD biomarkers, we hypothesized that PD cerebrospinal fluid would show increased formation of the excitotoxin 3-hydroxykynurenine and diminished concentration of the antioxidant glutathione. Cerebrospinal fluid was collected at biomarkers and offer new directions for recognizing disease-specific biochemical indicators. The findings support involvement of excitotoxicity and oxidative stress in the pathogenesis of PD.

  19. Evidence of Multiple Disease Resistance (MDR and implication of meta-analysis in marker assisted selection.

    Directory of Open Access Journals (Sweden)

    Farhan Ali

    Full Text Available Meta-analysis was performed for three major foliar diseases with the aim to find out the total number of QTL responsible for these diseases and depict some real QTL for molecular breeding and marker assisted selection (MAS in maize. Furthermore, we confirmed our results with some major known disease resistance genes and most well-known gene family of nucleotide binding site (NBS encoding genes. Our analysis revealed that disease resistance QTL were randomly distributed in maize genome, but were clustered at different regions of the chromosomes. Totally 389 QTL were observed for these three major diseases in diverse maize germplasm, out of which 63 QTL were controlling more than one disease revealing the presence of multiple disease resistance (MDR. 44 real-QTLs were observed based on 4 QTL as standard in a specific region of genome. We also confirmed the Ht1 and Ht2 genes within the region of real QTL and 14 NBS-encoding genes. On chromosome 8 two NBS genes in one QTL were observed and on chromosome 3, several cluster and maximum MDR QTL were observed indicating that the apparent clustering could be due to genes exhibiting pleiotropic effect. Significant relationship was observed between the number of disease QTL and total genes per chromosome based on the reference genome B73. Therefore, we concluded that disease resistance genes are abundant in maize genome and these results can unleash the phenomenon of MDR. Furthermore, these results could be very handy to focus on hot spot on different chromosome for fine mapping of disease resistance genes and MAS.

  20. Spatial Analysis of Multiple Sclerosis Disease in Tehran Metropolitan Zone, Iran, 2001-2012.

    Directory of Open Access Journals (Sweden)

    Mahbubeh Saei

    2014-05-01

    Full Text Available Multiple Sclerosis (MS is a disease with high disabling disorders and considerable social and economic impacts. This study was conducted to analyze the spatial distribution of MS disease in Tehran, Iran during 2001-2012.The existing information in the MS patients' medical files who had registered in Iranian MS Society (IMSS, located in Tehran office, was used for analysis. The relationship between diseases incidences in 22 zones of Tehran based on estimated socio-economic status (SES of each zone was evaluated. High and low clustering approach was used in order to investigate the disease's distribution pattern meanwhile, Getis Ord's Gi test and Hot Spot analysis approach has been used to detect high risk zones of the disease.A total of 6027 MS patients were registered between 2001- 2012 which 4580 (%75.99 were women. During the study period, zone number 6 figured as the most high risk zone for the disease (P<0.1. A heterogeneous distribution was shown for the disease. Cumulative incidence of the disease in northern zones (101.73 per 100,000 inhabitants was two times more of Southern zones (53.79 per 100,000 inhabitants. There seems to be a direct linear relationship between estimated incidence rate of the disease in each zones with the level of SES (P<0.001.Heterogeneous geographical distribution of MS and its higher estimated incidence for northern zones in Tehran may be because of higher SES and other factors in mentioned zones. It is recommended to consider the surveillance with long-term and cost-effective interventional strategies along with disease in high risk zones.

  1. Comparative analysis of gene expression profiles of OPN signalling pathway in four kinds of liver diseases

    Indian Academy of Sciences (India)

    GAIPING WANG; SHASHA CHEN; CONGCONG ZHAO; XIAOFANG LI; WEIMING ZHAO; JING YANG; CUIFANG CHANG; CUNSHUAN XU

    2016-09-01

    To explore the relevance of OPN signalling pathway to the occurrence and development of nonalcoholic fatty liver disease (NAFLD), liver cirrhosis (LC), hepatic cancer (HC) and acute hepatic failure (AHF) at transcriptional level, Rat Genome 230 2.0 Array was used to detect expression profiles of OPN signalling pathway-related genes in four kinds of liver diseases. The results showed that 23, 33, 59 and 74 genes were significantly changed in the above four kinds of liver diseases, respectively. H-clustering analysis showed that the expression profiles of OPN signalling-related genes were notably different in four kinds of liver diseases. Subsequently, a total of above-mentioned 147 genes were categorized into four clusters by k-means according to the similarity of gene expression, and expression analysis systematic explorer (EASE) functional enrichment analysis revealed that OPN signalling pathway-related genes were involved in cell adhesion and migration, cell proliferation, apoptosis, stress and inflammatory reaction, etc. Finally, ingenuity pathway analysis (IPA) software was used to predict thefunctions of OPN signalling-related genes, and the results indicated that the activities of ROS production, cell adhesion and migration, cell proliferation were remarkably increased, while that of apoptosis, stress and inflammatory reaction were reduced in four kinds of liver diseases. In summary, the above physiological activities changed more obviously in LC, HC and AHF than in NAFLD

  2. Correlation between periodontal disease and oral cancer risk: A meta-analysis.

    Science.gov (United States)

    Ye, Lili; Jiang, Yinhua; Liu, Weidong; Tao, HaiBiao

    2016-12-01

    The purpose of this study is to investigate the correlation between periodontal disease and oral cancer risk by meta-analysis. We searched the electronic databases of PubMed and Wanfang to include the articles related to periodontal disease and oral cancer risk. The association between periodontal disease and oral cancer risk was assessed by odds ratio (OR) and its corresponding 95% confidence interval (95% CI). The publication bias was evaluated by Begg's funnel plot and Egger's line regression test. All the data analysis was done by STATA12.0 software (Stata Corporation, College Station, TX, USA). Eleven case-control studies were included in our present meta-analysis. We found significant statistical heterogeneity was existed in our present meta-analysis (I2 = 99.8%, P periodontal disease and oral cancer risk was found with OR = 3.21 and the 95% CI = 2.25-4.16 (P periodontal disease can increase the oral cancer risk by nearly 2-fold.

  3. Comparative analysis of gene expression profiles of OPN signaling pathway in four kinds of liver diseases.

    Science.gov (United States)

    Wang, Gaiping; Chen, Shasha; Zhao, Congcong; Li, Xiaofang; Zhao, Weiming; Yang, Jing; Chang, Cuifang; Xu, Cunshuan

    2016-09-01

    To explore the relevance of OPN signalling pathway to the occurrence and development of nonalcoholic fatty liver disease (NAFLD), liver cirrhosis (LC), hepatic cancer (HC) and acute hepatic failure (AHF) at transcriptional level, Rat Genome 230 2.0 Array was used to detect expression profiles of OPN signalling pathway-related genes in four kinds of liver diseases. The results showed that 23, 33, 59 and 74 genes were significantly changed in the above four kinds of liver diseases, respectively. H-clustering analysis showed that the expression profiles of OPN signalling-related genes were notably different in four kinds of liver diseases. Subsequently, a total of above-mentioned 147 genes were categorized into four clusters by k-means according to the similarity of gene expression, and expression analysis systematic explorer (EASE) functional enrichment analysis revealed that OPN signalling pathway-related genes were involved in cell adhesion and migration, cell proliferation, apoptosis, stress and inflammatory reaction, etc. Finally, ingenuity pathway analysis (IPA) software was used to predict the functions of OPN signalling-related genes, and the results indicated that the activities of ROS production, cell adhesion and migration, cell proliferation were remarkably increased, while that of apoptosis, stress and inflammatory reaction were reduced in four kinds of liver diseases. In summary, the above physiological activities changed more obviously in LC, HC and AHF than in NAFLD.

  4. Analysis of the cartilage proteome from three different mouse models of genetic skeletal diseases reveals common and discrete disease signatures

    Directory of Open Access Journals (Sweden)

    Peter A. Bell

    2013-06-01

    Pseudoachondroplasia and multiple epiphyseal dysplasia are genetic skeletal diseases resulting from mutations in cartilage structural proteins. Electron microscopy and immunohistochemistry previously showed that the appearance of the cartilage extracellular matrix (ECM in targeted mouse models of these diseases is disrupted; however, the precise changes in ECM organization and the pathological consequences remain unknown. Our aim was to determine the effects of matrilin-3 and COMP mutations on the composition and extractability of ECM components to inform how these detrimental changes might influence cartilage organization and degeneration. Cartilage was sequentially extracted using increasing denaturants and the extraction profiles of specific proteins determined using SDS-PAGE/Western blotting. Furthermore, the relative composition of protein pools was determined using mass spectrometry for a non-biased semi-quantitative analysis. Western blotting revealed changes in the extraction of matrilins, COMP and collagen IX in mutant cartilage. Mass spectrometry confirmed quantitative changes in the extraction of structural and non-structural ECM proteins, including proteins with roles in cellular processes such as protein folding and trafficking. In particular, genotype-specific differences in the extraction of collagens XII and XIV and tenascins C and X were identified; interestingly, increased expression of several of these genes has recently been implicated in susceptibility and/or progression of murine osteoarthritis. We demonstrated that mutation of matrilin-3 and COMP caused changes in the extractability of other cartilage proteins and that proteomic analyses of Matn3 V194D, Comp T585M and Comp DelD469 mouse models revealed both common and discrete disease signatures that provide novel insight into skeletal disease mechanisms and cartilage degradation.

  5. Using Principal Component Analysis And Choqet Integral To Establish A Diagnostic Model of Parkinson Disease

    Science.gov (United States)

    cao, Xiuming; Song, Jinjie; Zhang, Caipo

    This work focused on principal component analysis and Choquet integral to structure a model of diagnose Parkinson disease. The proper value of Sugeno measure is vital to a diagnostic model. This paper aims at providing a method of using principal component analysis to obtain the sugeno measure. In this diagnostic model, there are two key elements. One is the goodness of fit that the degrees of evidential support for attribute. The other is the importance of attribute itself. The instances of Parkinson disease illuminate that the method is effective.

  6. Analysis of a Mathematical Model of Emerging Infectious Disease Leading to Amphibian Decline

    Directory of Open Access Journals (Sweden)

    Muhammad Dur-e-Ahmad

    2014-01-01

    Full Text Available We formulate a three-dimensional deterministic model of amphibian larvae population to investigate the cause of extinction due to the infectious disease. The larvae population of the model is subdivided into two classes, exposed and unexposed, depending on their vulnerability to disease. Reproduction ratio ℛ0 has been calculated and we have shown that if ℛ01, we discussed different scenarios under which an infected population can survive or be eliminated using stability and persistence analysis. Finally, we also used Hopf bifurcation analysis to study the stability of periodic solutions.

  7. KEGG for representation and analysis of molecular networks involving diseases and drugs.

    Science.gov (United States)

    Kanehisa, Minoru; Goto, Susumu; Furumichi, Miho; Tanabe, Mao; Hirakawa, Mika

    2010-01-01

    Most human diseases are complex multi-factorial diseases resulting from the combination of various genetic and environmental factors. In the KEGG database resource (http://www.genome.jp/kegg/), diseases are viewed as perturbed states of the molecular system, and drugs as perturbants to the molecular system. Disease information is computerized in two forms: pathway maps and gene/molecule lists. The KEGG PATHWAY database contains pathway maps for the molecular systems in both normal and perturbed states. In the KEGG DISEASE database, each disease is represented by a list of known disease genes, any known environmental factors at the molecular level, diagnostic markers and therapeutic drugs, which may reflect the underlying molecular system. The KEGG DRUG database contains chemical structures and/or chemical components of all drugs in Japan, including crude drugs and TCM (Traditional Chinese Medicine) formulas, and drugs in the USA and Europe. This database also captures knowledge about two types of molecular networks: the interaction network with target molecules, metabolizing enzymes, other drugs, etc. and the chemical structure transformation network in the history of drug development. The new disease/drug information resource named KEGG MEDICUS can be used as a reference knowledge base for computational analysis of molecular networks, especially, by integrating large-scale experimental datasets.

  8. Alcohol consumption and risk of gallstone disease: a meta-analysis.

    Science.gov (United States)

    Wang, Jiantao; Duan, Xiaolin; Li, Bingrong; Jiang, Xiubo

    2017-04-01

    Epidemiology studies have been carried out to investigate the association between alcohol consumption and the risk of gallstone disease, but the results remain controversial. We carried out a meta-analysis to quantitatively summarize the evidences from observational studies on alcohol consumption and the risk of gallstone disease. Eligible studies published in English were identified by searching PubMed, Web of Science, and Embase databases. The random-effect model was used to calculate the pooled relative risks (RRs) with 95% confidence intervals (CIs). Restricted cubic splines were used to assess the dose-response relationship. Eight cohort studies and 10 case-control studies were included in our meta-analysis. The pooled RR of gallstone disease for the highest versus the lowest alcohol consumption was 0.62 (95% CI: 0.49-0.78). Statistically significant associations were also found in stratified analysis by study design (cohort studies: RR=0.66, 95% CI: 0.48-0.91 and case-control studies: RR=0.58, 95% CI: 0.45-0.73). With respect to sex, both men (RR=0.57, 95% CI: 0.4-0.8) and women (RR=0.64, 95% CI: 0.53-0.77) showed statistically significant associations between alcohol consumption and the risk of gallstone disease. A linear dose-response relationship was found between alcohol consumption and gallstone disease risk and the risk of gallstone disease decreased by 12% (RR=0.88, 95% CI: 0.84-0.92; Pnonlinearity=0.079) for each 10 g/day increment in alcohol consumption. This meta-analysis suggests that alcohol consumption is associated with significantly decreased risk of gallstone disease.

  9. Efficacy of Carboxymethylcellulose and Hyaluronate in Dry Eye Disease: A Systematic Review and Meta-Analysis

    Science.gov (United States)

    Song, Jae Kyeong; Park, Hwa Yeon; Hyon, Joon Young; Oh, Seung-Won; Bae, Woo Kyung; Han, Jong-Soo; Jung, Se Young; Um, Yoo Jin; Lee, Ga-Hye; Yang, Ji Hye

    2017-01-01

    Background The efficacy of two artificial tears, carboxymethylcellulose (CMC) and hyaluronate (HA), was compared in the treatment of patients with dry eye disease. Methods We conducted a systematic review and meta-analysis on randomized controlled trials in the PubMed, Embase, Cochrane Library, and ClinicalTrials.gov databases. The efficacy was compared in terms of the mean change from baseline in tear break-up time. The meta-analysis was conducted using both random and fixed effect models. The quality of the selected studies was assessed for risk of bias. Results Five studies were included involving 251 participants. Random effect model meta-analysis showed no significant difference between CMC and HA in treating dry eye disease (pooled standardized mean difference [SMD]=-0.452; 95% confidence interval [CI], -0.911 to 0.007; P=0.053). In contrast, fixed effect model meta-analysis revealed significant improvements in the CMC group when compared to the HA group (pooled SMD=-0.334; 95% CI, -0.588 to -0.081; P=0.010). Conclusion The efficacy of CMC appeared to be better than that of HA in treating dry eye disease, although meta-analysis results were not statistically significant. Further research is needed to better elucidate the difference in efficacy between CMC and HA in treating dry eye disease. PMID:28197326

  10. Factor analysis of dynamic structures (FADS) in the diagnosis of the renal disease

    Energy Technology Data Exchange (ETDEWEB)

    Macleod, M.A.; Houston, A.S.

    1989-09-01

    Factor analysis of dynamic structures (FADS) has been used in the interpretation of dynamic scintigraphic studies since the technique was described by Bazin et al. (1980). This study was designed to analyse to what extent, if any, does physiological factor analysis of dynamic renal data really help the clinician and by how much the method improves the diagnostic accuracy when compared to deconvolution analysis and parenchymal transit time (PTT) measurements. One hundred and fifty patients who were clinically, biochemically and radiologically investigated for renal disease were included in the study. Fifty of these were found to have no clinical evidence of renal disease, 50 were diagnosed as having non obstructive kidney disease and 50 had evidence of renal obstruction. Data obtained from /sup 99m/Tc-DTPA renography were processed using deconvolution (with PTTs) and physiological factor analysis and the results compared by ROC analysis. Clinically the information gained from factor analysis was superior to that obtained from deconvolution with PTT measurements in that a more accurate differentiation between an obstructive nephropathy and an obstructive uropathy was obtained. It is considered that physiological factor analysis enhances the clinical information obtained from renography, increases diagnostic accuracy and obviates the need for diuresis renography. (orig.).

  11. Stem cell transplantation for treating Parkinson's disease Literature analysis based on the Web of Science

    Institute of Scientific and Technical Information of China (English)

    Runhui Li

    2012-01-01

    OBJECTIVE: To identify global research trends of stem cell transplantation for treating Parkinson's disease using a bibliometric analysis of the Web of Science. DATA RETRIEVAL: We performed a bibliometric analysis of data retrievals for stem cell transplantation for treating Parkinson's disease from 2002 to 2011 using the Web of Science. SELECTION CRITERIA: Inclusion criteria: (a) peer-reviewed articles on stem cell transplantation for treating Parkinson's disease which were published and indexed in the Web of Science; (b) type of articles: original research articles, reviews, meeting abstracts, proceedings papers, book chapters, editorial material and news items; (c) year of publication: 2002–2011. Exclusion criteria: (a) articles that required manual searching or telephone access; (b) we excluded documents that were not published in the public domain; (c) we excluded a number of corrected papers from the total number of articles.MAIN OUTCOME MEASURES: (1) Type of literature; (2) annual publication output; (3) distribution according to journals; (4) distribution according to subject areas; (5) distribution according to country; (6) distribution according to institution; (7) comparison of countries that published the most papers on stem cell transplantation from different cell sources for treating Parkinson's disease; (8) comparison of institutions that published the most papers on stem cell transplantation from different cell sources for treating Parkinson's disease in the Web of Science from 2002 to 2011; (9) comparison of studies on stem cell transplantation from different cell sources for treating Parkinson's diseaseRESULTS: In total, 1 062 studies on stem cell transplantation for treating Parkinson's disease appeared in the Web of Science from 2002 to 2011, almost one third of which were from American authors and institutes. The number of studies on stem cell transplantation for treating Parkinson's disease had gradually increased over the past 10 years

  12. Maternal periodontal disease and risk of preeclampsia: a meta-analysis.

    Science.gov (United States)

    Huang, Xi; Wang, Juan; Liu, Jian; Hua, Li; Zhang, Dan; Hu, Ting; Ge, Zi-Li

    2014-10-01

    Research on the association between maternal periodontal disease and the risk of preeclampsia has generated inconsistent results. This meta-analysis was conducted to evaluate the association between maternal periodontal disease and the risk of preeclampsia. A literature search of PubMed and Embase was performed to identify relevant papers published before March 2013. Only observational studies that assessed maternal periodontal disease and the risk of preeclampsia were selected. Patients' periodontal status was examined at different time points during pregnancy or after delivery (at 14-32 weeks of gestation, within 48 h prior to or within 5 days after delivery). Pooled odds ratios (ORs) and corresponding 95% confidence intervals (CIs) were calculated for cases and controls. Cases were defined as women with concurrent hypertension and proteinuria after 20 weeks of gestation. Eleven studies involving 1118 women with preeclampsia and 2798 women without preeclampsia were identified and analyzed. Women with periodontal disease before 32 weeks of gestation had a 3.69-fold higher risk of developing preeclampsia than their counterparts without periodontal disease (OR=3.69; 95% CI=2.58-5.27). Periodontal disease within 48 h prior to delivery was associated with a 2.68-fold higher risk of preeclampsia (OR=2.68; 95% CI=1.39-5.18). Pregnant women with periodontal disease within 5 days after delivery had a 2.22-fold higher risk of preeclampsia than women without periodontal disease (OR=2.22; 95% CI=1.16-4.27). In conclusion, this meta-analysis suggests that maternal periodontal disease is an independent predictor of preeclampsia.

  13. Dietary Patterns and Chronic Obstructive Pulmonary Disease: A Meta-analysis.

    Science.gov (United States)

    Zheng, Pei-Fen; Shu, Long; Si, Cai-Juan; Zhang, Xiao-Yan; Yu, Xiao-Long; Gao, Wei

    2016-08-01

    Investigation of the relationship between dietary patterns and some chronic noncommunicable diseases has become appealing in nutritional epidemiology. Some studies have reported potential associations between dietary patterns and the risk of chronic obstructive pulmonary disease; however, the results remain conflicting. Thus, we conducted this meta-analysis to pool the results of studies to clarify the associations between dietary patterns and the risk of chronic obstructive pulmonary disease. A literature search of MEDLINE and EBSCO databases was performed to identify relevant studies published from January 1990 up to June 2015. A total of 13 studies met the inclusion criteria and were included in this meta-analysis. The highest category of healthy/prudent dietary patterns when compared with the lowest category was apparently associated with a decreased risk (OR = 0.55; CI: 0.46, 0.66; P < 0.0001). An increase in the risk of chronic obstructive pulmonary disease was shown for the highest compared with the lowest categories of "unhealthy/western-style" dietary patterns (OR = 2.12; CI: 1.64, 2.74; P < (0.0001). The results of this meta-analysis indicate that different dietary pattern may be associated with the risk of chronic obstructive pulmonary disease.

  14. Association of LPP and TAGAP Polymorphisms with Celiac Disease Risk: A Meta-Analysis

    Science.gov (United States)

    Huang, Shi-Qi; Zhang, Na; Zhou, Zi-Xing; Huang, Chui-Can; Zeng, Cheng-Li; Xiao, Di; Guo, Cong-Cong; Han, Ya-Jing; Ye, Xiao-Hong; Ye, Xing-Guang; Ou, Mei-Ling; Zhang, Bao-Huan; Liu, Yang; Zeng, Eddy Y.; Yang, Guang; Jing, Chun-Xia

    2017-01-01

    Background: Lipoma preferred partner (LPP) and T-cell activation Rho GTPase activating protein (TAGAP) polymorphisms might influence the susceptibility to celiac disease. Therefore, we performed a meta-analysis by identifying relevant studies to estimate the risks of these polymorphisms on celiac disease. Methods: The PubMed, Web of Science and Embase databases were searched (up to October 2016) for LPP rs1464510 and TAGAP rs1738074 polymorphisms. Results: This meta-analysis included the same 7 studies for LPP rs1464510 and TAGAP rs1738074. The minor risk A allele at both rs1464510 and rs1738074 carried risks (odds ratios) of 1.26 (95% CI: 1.22–1.30) and 1.17 (95% CI: 1.14–1.21), respectively, which contributed to increased risks in all celiac disease patients by 10.72% and 6.59%, respectively. The estimated lambdas were 0.512 and 0.496, respectively, suggesting that a co-dominant model would be suitable for both gene effects. Conclusions: This meta-analysis provides robust estimates that polymorphisms in LPP and TAGAP genes are potential risk factors for celiac disease in European and American. Prospective studies and more genome-wide association studies (GWAS) are needed to confirm these findings, and some corresponding molecular biology experiments should be carried out to clarify the pathogenic mechanisms of celiac disease. PMID:28208589

  15. Analysis of crucial molecules involved in herniated discs and degenerative disc disease

    Directory of Open Access Journals (Sweden)

    Zhigang Qu

    2013-01-01

    Full Text Available OBJECTIVES: Herniated discs and degenerative disc disease are major health problems worldwide. However, their pathogenesis remains obscure. This study aimed to explore the molecular mechanisms of these ailments and to identify underlying therapeutic targets. MATERIAL AND METHODS: Using the GSE23130 microarray datasets downloaded from the Gene Expression Omnibus database, differentially co-expressed genes and links were identified using the differentially co-expressed gene and link method with a false discovery rate ,0.25 as a significant threshold. Subsequently, the underlying molecular mechanisms of the differential co-expression of these genes were investigated using Kyoto Encyclopedia of Genes and Genomes pathway enrichment analysis. In addition, the transcriptional regulatory relationship was also investigated. RESULTS: Through the analysis of the gene expression profiles of different specimens from patients with these diseases, 539 differentially co-expressed genes were identified for these ailments. The ten most significant signaling pathways involving the differentially co-expressed genes were identified by enrichment analysis. Among these pathways, apoptosis and extracellular matrix-receptor interaction pathways have been reported to be related to these diseases. A total of 62 pairs of regulatory relationships between transcription factors and their target genes were identified as critical for the pathogenesis of these diseases. CONCLUSION: The results of our study will help to identify the mechanisms responsible for herniated discs and degenerative disc disease and provides a theoretical basis for further therapeutic study.

  16. Association of LPP and TAGAP Polymorphisms with Celiac Disease Risk: A Meta-Analysis.

    Science.gov (United States)

    Huang, Shi-Qi; Zhang, Na; Zhou, Zi-Xing; Huang, Chui-Can; Zeng, Cheng-Li; Xiao, Di; Guo, Cong-Cong; Han, Ya-Jing; Ye, Xiao-Hong; Ye, Xing-Guang; Ou, Mei-Ling; Zhang, Bao-Huan; Liu, Yang; Zeng, Eddy Y; Yang, Guang; Jing, Chun-Xia

    2017-02-10

    Background: Lipoma preferred partner (LPP) and T-cell activation Rho GTPase activating protein (TAGAP) polymorphisms might influence the susceptibility to celiac disease. Therefore, we performed a meta-analysis by identifying relevant studies to estimate the risks of these polymorphisms on celiac disease. Methods: The PubMed, Web of Science and Embase databases were searched (up to October 2016) for LPP rs1464510 and TAGAP rs1738074 polymorphisms. Results: This meta-analysis included the same 7 studies for LPP rs1464510 and TAGAP rs1738074. The minor risk A allele at both rs1464510 and rs1738074 carried risks (odds ratios) of 1.26 (95% CI: 1.22-1.30) and 1.17 (95% CI: 1.14-1.21), respectively, which contributed to increased risks in all celiac disease patients by 10.72% and 6.59%, respectively. The estimated lambdas were 0.512 and 0.496, respectively, suggesting that a co-dominant model would be suitable for both gene effects. Conclusions: This meta-analysis provides robust estimates that polymorphisms in LPP and TAGAP genes are potential risk factors for celiac disease in European and American. Prospective studies and more genome-wide association studies (GWAS) are needed to confirm these findings, and some corresponding molecular biology experiments should be carried out to clarify the pathogenic mechanisms of celiac disease.

  17. A systematic review and meta-analysis of the funtional MRI investigation of motor neuron disease

    OpenAIRE

    Dongchao eShen; Liying eCui; Bo eCui; Jia eFang; Dawei eLi; Junfang eMa

    2015-01-01

    Background: To assess the use of functional magnetic resonance imaging (fMRI) in motor neuron disease (MND), a systematic review and voxelwise meta-analysis of studies comparing brain activity in patients with MND and in healthy controls (HCs) was conducted to identify common findings across studies.Methods: A search for related papers published in English and Chinese was performed in Ovid Medline, Pubmed and Embase database. Voxelwise meta-analysis was performed using signed differential map...

  18. Analysis on Developmental Factors of the Liver Diseases in Ultrasound Diagnosis of Healthcare

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Mi Yeon [Dept. of Radiology of Healthcare Center Kyobo Life Insurance Science, Seoul (Korea, Republic of); Jung, Hong Ryang; Lim, Chang Hwan [Dept. of Radiological Science, Hanseo University, Seosan (Korea, Republic of)

    2009-03-15

    The study found out developmental factors of the liver diseases in 29, 531 cases of the healthy adults who were diagnosed by using ultrasound at domestic healthcare centers in 6 cities. The results are as follows. Based on the result of the study, the liver diseases diagnosed by using ultrasound was revealed to show 43.1% of prevalence, and the occurrence was significantly higher in male (23.3%) than in female (19.8%). The prevalence of hepatic diseases related to the BMI was revealed to show highest prevalence of the fatty liver in obese group (BMI 25) by recording 44.3%. Smoking contributed to the high prevalence of all liver diseases. Although the fatty liver was the most frequently occurred form of liver diseases by recording the prevalence of 49.1% (22.2% in male, 26.9% in female), the significant difference was found only in female (p < 0.05), but male group did not show significant difference (p > 0.05). The prevalence of hepatic diseases related to the hypertension was revealed to show highest prevalence of the fatty liver in hypertension group by recording 67.7%. The prevalence of hepatic diseases related to the diabetes was revealed to show highest prevalence of the fatty liver in diabetes group by recording 66.2%. The high prevalence of all hepatic diseases was related to diabetes mellitus with statistical significance (p < 0.001). The multiple regression analysis for the related factors which affect the prevalence of the liver diseases showed the higher prevalence by age. Sex, obesity and diabetes mellitus were positively related to the prevalence (p < 0.05) while hypertension and smoking showed no significant relationship to the prevalence of the disease (p > 0.05).

  19. Network approaches to systems biology analysis of complex disease: integrative methods for multi-omics data.

    Science.gov (United States)

    Yan, Jingwen; Risacher, Shannon L; Shen, Li; Saykin, Andrew J

    2017-06-30

    In the past decade, significant progress has been made in complex disease research across multiple omics layers from genome, transcriptome and proteome to metabolome. There is an increasing awareness of the importance of biological interconnections, and much success has been achieved using systems biology approaches. However, because of the typical focus on one single omics layer at a time, existing systems biology findings explain only a modest portion of complex disease. Recent advances in multi-omics data collection and sharing present us new opportunities for studying complex diseases in a more comprehensive fashion, and yet simultaneously create new challenges considering the unprecedented data dimensionality and diversity. Here, our goal is to review extant and emerging network approaches that can be applied across multiple biological layers to facilitate a more comprehensive and integrative multilayered omics analysis of complex diseases. © The Author 2017. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

  20. Discrimination of inflammatory bowel disease using Raman spectroscopy and linear discriminant analysis methods

    Science.gov (United States)

    Ding, Hao; Cao, Ming; DuPont, Andrew W.; Scott, Larry D.; Guha, Sushovan; Singhal, Shashideep; Younes, Mamoun; Pence, Isaac; Herline, Alan; Schwartz, David; Xu, Hua; Mahadevan-Jansen, Anita; Bi, Xiaohong

    2016-03-01

    Inflammatory bowel disease (IBD) is an idiopathic disease that is typically characterized by chronic inflammation of the gastrointestinal tract. Recently much effort has been devoted to the development of novel diagnostic tools that can assist physicians for fast, accurate, and automated diagnosis of the disease. Previous research based on Raman spectroscopy has shown promising results in differentiating IBD patients from normal screening cases. In the current study, we examined IBD patients in vivo through a colonoscope-coupled Raman system. Optical diagnosis for IBD discrimination was conducted based on full-range spectra using multivariate statistical methods. Further, we incorporated several feature selection methods in machine learning into the classification model. The diagnostic performance for disease differentiation was significantly improved after feature selection. Our results showed that improved IBD diagnosis can be achieved using Raman spectroscopy in combination with multivariate analysis and feature selection.

  1. Preliminary risk analysis applied to the transmission of Creutzfeldt-Jakob disease.

    Science.gov (United States)

    Bertrand, E; Schlatter, J

    2011-01-01

    Transmissible spongiform encephalopathy (TSE) is a degenerative disease of the central nervous system. As yet, there is no human screening test and no effective treatment. This disease is invariably fatal. General preventive measures are therefore essential. The objective of this study is to analyze and address on a prioritized basis the risks relating to the transmission of Creutzfeldt-Jakob disease during surgical operations by means of a preliminary risk analysis (PRA). The PRA produces 63 scenarios with maximum risk relating to operational and legal dangers. The study recommends a number of courses of action, such as training and internal controls, in order to reduce the risks identified. A procedure has been drawn up and assessed for each action. This PRA makes it possible to target and significantly reduce the potential dangers for transmission of Creutzfeldt-Jakob disease through the use of medical instruments.

  2. Meta-analysis of psoriasis, cardiovascular disease, and associated risk factors

    DEFF Research Database (Denmark)

    Miller, Iben Marie; Ellervik, Christina; Yazdanyar, Shiva

    2013-01-01

    BACKGROUND: The possible connection between psoriasis with cardiovascular disease and associated risk factors has been implied, but inconsistent results have been reported. OBJECTIVE: We sought to create an overview and statistical summary of the previous literature with elucidating subgroup...... analysis. METHODS: This was a meta-analysis of observational studies using random effect statistics. A systematic search of observational studies of psoriasis as study variable and cardiovascular disease and associated risk factors as outcome, published before October 25, 2012, was conducted. RESULTS...... significant associations, with the exception of dyslipidemia. LIMITATIONS: The heterogeneity of the studies makes clinical interpretation challenging. CONCLUSIONS: In aggregate, psoriasis was associated with ischemic heart disease and cardiovascular risk factors. The association was only significant...

  3. Systems approaches to animal disease surveillance and resource allocation: methodological frameworks for behavioral analysis.

    Science.gov (United States)

    Rich, Karl M; Denwood, Matthew J; Stott, Alistair W; Mellor, Dominic J; Reid, Stuart W J; Gunn, George J

    2013-01-01

    While demands for animal disease surveillance systems are growing, there has been little applied research that has examined the interactions between resource allocation, cost-effectiveness, and behavioral considerations of actors throughout the livestock supply chain in a surveillance system context. These interactions are important as feedbacks between surveillance decisions and disease evolution may be modulated by their contextual drivers, influencing the cost-effectiveness of a given surveillance system. This paper identifies a number of key behavioral aspects involved in animal health surveillance systems and reviews some novel methodologies for their analysis. A generic framework for analysis is discussed, with exemplar results provided to demonstrate the utility of such an approach in guiding better disease control and surveillance decisions.

  4. Histopathological and ultrastructural analysis of vestibular endorgans in Meniere's disease reveals basement membrane pathology

    Directory of Open Access Journals (Sweden)

    McCall Andrew A

    2009-06-01

    Full Text Available Abstract Background We report the systematic analysis of the ultrastructural and cytological histopathology of vestibular endorgans acquired from labyrinthectomy in Meniere's disease. Methods 17 subjects with intractable Meniere's disease and ipsilateral non-serviceable hearing presenting to the Neurotology Clinic from 1997 to 2006 who chose ablative labyrinthectomy (average age = 62 years; range 29–83 years participated. The average duration of symptoms prior to surgery was 7 years (range 1–20 years. Results Nearly all vestibular endorgans demonstrated varying degrees of degeneration. A monolayer of epithelial cells occurred significantly more frequently in the horizontal cristae (12/13 = 92% (p Conclusion Systematic histopathological analysis of the vestibular endorgans from Meniere's disease demonstrated neuroepithelial degeneration which was highly correlated with an associated BM thickening. Other findings included hair cell and supporting cell microvessicles, increased intercellular clear spaces in the stroma, and endothelial cell vacuolization and stromal perivascular BM thickening.

  5. THE ‘HYBRID’ TECHNIQUE FOR RISK ANALYSIS OF SOME DISEASES

    Institute of Scientific and Technical Information of China (English)

    2001-01-01

    Based on the data obtained from a survey recently made in Shanghai, this paper presents the hybrid technique for risk analysis and evaluation of some diseases. After determination of main risk factors of these diseases by analysis of variance, the authors introduce a new concept ‘Illness Fuzzy Set’ and use fuzzy comprehensive evaluation to evaluate the risk of suffering from a disease for residents. Optimal technique is used to determine the weights wi in fuzzy comprehensive evaluation, and a new method ‘Improved Information Distribution’ is also introduced for the treatment of small sample problem. It is shown that the results obtained by using the hybrid technique are better than by using single fuzzy technique or single statistical method.

  6. THE 'HYBRID' TECHNIQUE FOR RISK ANALYSIS OF SOME DISEASES

    Institute of Scientific and Technical Information of China (English)

    SHANGHANJI; LUYUCHU; XUXUEMEI; CHENQIAN

    2001-01-01

    Based on the data obtained from a survey recently made in Shanghai, this paper presents the hybrid technique for risk analysis and evaluation of some diseases. After determination of main risk factors of these diseases by analysis of variance, the authors introduce a new concept 'Illness Fuzzy Set' and use fuzzy comprehensive evaluation to evaluate the risk of suffering from a disease for residents. Optimal technique is used to determinethe weights wi in fuzzy comprehensive evaluation, and a new method 'Improved Information Distribution' is also introduced for the treatment of small sample problem. It is shown that the results obtained by using the hybrid technique are better than by using single fuzzy technique or single statistical method.

  7. Mendelian randomization analysis of a time-varying exposure for binary disease outcomes using functional data analysis methods.

    Science.gov (United States)

    Cao, Ying; Rajan, Suja S; Wei, Peng

    2016-12-01

    A Mendelian randomization (MR) analysis is performed to analyze the causal effect of an exposure variable on a disease outcome in observational studies, by using genetic variants that affect the disease outcome only through the exposure variable. This method has recently gained popularity among epidemiologists given the success of genetic association studies. Many exposure variables of interest in epidemiological studies are time varying, for example, body mass index (BMI). Although longitudinal data have been collected in many cohort studies, current MR studies only use one measurement of a time-varying exposure variable, which cannot adequately capture the long-term time-varying information. We propose using the functional principal component analysis method to recover the underlying individual trajectory of the time-varying exposure from the sparsely and irregularly observed longitudinal data, and then conduct MR analysis using the recovered curves. We further propose two MR analysis methods. The first assumes a cumulative effect of the time-varying exposure variable on the disease risk, while the second assumes a time-varying genetic effect and employs functional regression models. We focus on statistical testing for a causal effect. Our simulation studies mimicking the real data show that the proposed functional data analysis based methods incorporating longitudinal data have substantial power gains compared to standard MR analysis using only one measurement. We used the Framingham Heart Study data to demonstrate the promising performance of the new methods as well as inconsistent results produced by the standard MR analysis that relies on a single measurement of the exposure at some arbitrary time point. © 2016 WILEY PERIODICALS, INC.

  8. Association between alcohol and cardiovascular disease : Mendelian randomisation analysis based on individual participant data

    NARCIS (Netherlands)

    Holmes, Michael V.; Dale, Caroline E.; Zuccolo, Luisa; Silverwood, Richard J.; Guo, Yiran; Ye, Zheng; Prieto-Merino, David; Dehghan, Abbas; Trompet, Stella; Wong, Andrew; Cavadino, Alana; Drogan, Dagmar; Padmanabhan, Sandosh; Li, Shanshan; Yesupriya, Ajay; Leusink, Maarten; Sundstrom, Johan; Hubacek, Jaroslav A.; Pikhart, Hynek; Swerdlow, Daniel I.; Panayiotou, Andrie G.; Borinskaya, Svetlana A.; Finan, Chris; Shah, Sonia; Kuchenbaecker, Karoline B.; Shah, Tina; Engmann, Jorgen; Folkersen, Lasse; Eriksson, Per; Ricceri, Fulvio; Melander, Olle; Sacerdote, Carlotta; Gamble, Dale M.; Rayaprolu, Sruti; Ross, Owen A.; McLachlan, Stela; Vikhireva, Olga; Sluijs, Ivonne; Scott, Robert A.; Adamkova, Vera; Flicker, Leon; Van Bockxmeer, Frank M.; Power, Christine; Marques-Vidal, Pedro; Meade, Tom; Marmot, Michael G.; Ferro, Jose M.; Paulos-Pinheiro, Sofia; Humphries, Steve E.; Talmud, Philippa J.; Leach, Irene Mateo; Verweij, Niek; Linneberg, Allan; Skaaby, Tea; Doevendans, Pieter A.; Cramer, Maarten J.; Van Der Harst, Pim; Klungel, Olaf H.; Dowling, Nicole F.; Dominiczak, Anna F.; Kumari, Meena; Nicolaides, Andrew N.; Weikert, Cornelia; Boeing, Heiner; Ebrahim, Shah; Gaunt, Tom R.; Price, Jackie F.; Lannfelt, Lars; Peasey, Anne; Kubinova, Ruzena; Pajak, Andrzej; Malyutina, Sofia; Voevoda, Mikhail I.; Tamosiunas, Abdonas; Maitland-van Der Zee, Anke H.; Norman, Paul E.; Hankey, Graeme J.; Bergmann, Manuela M.; Hofman, Albert; Franco, Oscar H.; Cooper, Jackie; Palmen, Jutta; Spiering, Wilko; De Jong, Pim A.; Kuh, Diana; Hardy, Rebecca; Uitterlinden, Andre G.; Ikram, M. Arfan; Ford, Ian; Hyppönen, Elina; Almeida, Osvaldo P.; Wareham, Nicholas J.; Khaw, Kay Tee; Hamsten, Anders; Husemoen, Lise Lotte N; Tjønneland, Anne; Tolstrup, Janne S.; Rimm, Eric; Beulens, Joline W J; Verschuren, W. M Monique; Onland-Moret, N. Charlotte; Hofker, Marten H.; Wannamethee, S. Goya; Whincup, Peter H.; Morris, Richard; Vicente, Astrid M.; Watkins, Hugh; Farrall, Martin; Jukema, J. Wouter; Meschia, James; Cupples, L. Adrienne; Sharp, Stephen J.; Fornage, Myriam; Kooperberg, Charles; LaCroix, Andrea Z.; Dai, James Y.; Lanktree, Matthew B.; Siscovick, David S.; Jorgenson, Eric; Spring, Bonnie; Coresh, Josef; Li, Yun R.; Buxbaum, Sarah G.; Schreiner, Pamela J.; Ellison, R. Curtis; Tsai, Michael Y.; Patel, Sanjay R.; Redline, Susan; Johnson, Andrew D.; Hoogeveen, Ron C.; Hakonarson, Hakon; Rotter, Jerome I.; Boerwinkle, Eric; De Bakker, Paul I W; Kivimaki, Mika; Asselbergs, Folkert W.; Sattar, Naveed; Lawlor, Debbie A.; Whittaker, John; Smith, George Davey; Mukamal, Kenneth; Psaty, Bruce M.; Wilson, James G.; Lange, Leslie A.; Hamidovic, Ajna; Nordestgaard, Børge G.; Bobak, Martin; Leon, David A.; Langenberg, Claudia; Palmer, Tom M.; Reiner, Alex P.; Keating, Brendan J.; Dudbridge, Frank; Casas, Juan P.

    2014-01-01

    Objective: To use the rs1229984 variant in the alcohol dehydrogenase 1B gene (ADH1B) as an instrument to investigate the causal role of alcohol in cardiovascular disease. Design: Mendelian randomisation meta-analysis of 56 epidemiological studies. Participants: 261 991 individuals of European descen

  9. Association between alcohol and cardiovascular disease : Mendelian randomisation analysis based on individual participant data

    NARCIS (Netherlands)

    Holmes, Michael V.; Dale, Caroline E.; Zuccolo, Luisa; Silverwood, Richard J.; Guo, Yiran; Ye, Zheng; Prieto-Merino, David; Dehghan, Abbas; Trompet, Stella; Wong, Andrew; Cavadino, Alana; Drogan, Dagmar; Padmanabhan, Sandosh; Li, Shanshan; Yesupriya, Ajay; Leusink, Maarten; Sundstrom, Johan; Hubacek, Jaroslav A.; Pikhart, Hynek; Swerdlow, Daniel I.; Panayiotou, Andrie G.; Borinskaya, Svetlana A.; Finan, Chris; Shah, Sonia; Kuchenbaecker, Karoline B.; Shah, Tina; Engmann, Jorgen; Folkersen, Lasse; Eriksson, Per; Ricceri, Fulvio; Melander, Olle; Sacerdote, Carlotta; Gamble, Dale M.; Rayaprolu, Sruti; Ross, Owen A.; McLachlan, Stela; Vikhireva, Olga; Sluijs, Ivonne; Scott, Robert A.; Adamkova, Vera; Flicker, Leon; Van Bockxmeer, Frank M.; Power, Christine; Marques-Vidal, Pedro; Meade, Tom; Marmot, Michael G.; Ferro, Jose M.; Paulos-Pinheiro, Sofia; Humphries, Steve E.; Talmud, Philippa J.; Mateo Leach, Irene; Verweij, Niek; Linneberg, Allan; Skaaby, Tea; Doevendans, Pieter A.; Cramer, Maarten J.; Van der Harst, Pim; Klungel, Olaf H.; Dowling, Nicole F.; Dominiczak, Anna F.; Kumari, Meena; Nicolaides, Andrew N.; Weikert, Cornelia; Boeing, Heiner; Ebrahim, Shah; Gaunt, Tom R.; Price, Jackie F.; Lannfelt, Lars; Peasey, Anne; Kubinova, Ruzena; Pajak, Andrzej; Malyutina, Sofia; Voevoda, Mikhail I.; Tamosiunas, Abdonas; Maitland-van der Zee, Anke H.; Norman, Paul E.; Hankey, Graeme J.; Bergmann, Manuela M.; Hofman, Albert; Franco, Oscar H.; Cooper, Jackie; Palmen, Jutta; Spiering, Wilko; de Jong, Pim A.; Kuh, Diana; Hardy, Rebecca; Uitterlinden, Andre G.; Ikram, M. Arfan; Ford, Ian; Hyppoenen, Elina; Almeida, Osvaldo P.; Wareham, Nicholas J.; Khaw, Kay-Tee; Hamsten, Anders; Husemoen, Lise Lotte N.; Tjonneland, Anne; Tolstrup, Janne S.; Rimm, Eric; Beulens, Joline W. J.; Verschuren, W. M. Monique; Onland-Moret, N. Charlotte; Hofker, Marten H.; Wannamethee, S. Goya; Whincup, Peter H.; Morris, Richard; Vicente, Astrid M.; Watkins, Hugh; Farrall, Martin; Jukema, J. Wouter; Meschia, James; Cupples, L. Adrienne; Sharp, Stephen J.; Fornage, Myriam; Kooperberg, Charles; LaCroix, Andrea Z.; Dai, James Y.; Lanktree, Matthew B.; Siscovick, David S.; Jorgenson, Eric; Spring, Bonnie; Coresh, Josef; Li, Yun R.; Buxbaum, Sarah G.; Schreiner, Pamela J.; Ellison, R. Curtis; Tsai, Michael Y.; Patel, Sanjay R.; Redline, Susan; Johnson, Andrew D.; Hoogeveen, Ron C.; Rotter, Jerome I.; Boerwinkle, Eric; de Bakker, Paul I. W.; Kivimaki, Mika; Asselbergs, Folkert W.; Sattar, Naveed; Lawlor, Debbie A.; Whittaker, John; Smith, George Davey; Mukamal, Kenneth; Psaty, Bruce M.; Wilson, James G.; Lange, Leslie A.; Hamidovic, Ajna; Hingorani, Aroon D.; Nordestgaard, Borge G.; Bobak, Martin; Leon, David A.; Langenberg, Claudia; Palmer, Tom M.; Reiner, Alex P.; Keating, Brendan J.; Dudbridge, Frank; Casas, Juan P.

    2014-01-01

    Objective To use the rs1229984 variant in the alcohol dehydrogenase 1B gene (ADH1B) as an instrument to investigate the causal role of alcohol in cardiovascular disease. Design Mendelian randomisation meta-analysis of 56 epidemiological studies. Participants 261 991 individuals of European descent,

  10. Global foot-and-mouth disease research update and gap analysis: 3 - vaccines

    Science.gov (United States)

    In 2014, the Global Foot-and-mouth disease Research Alliance (GFRA) conducted a gap analysis of FMD research. In this paper, we report updated findings in the field of FMD vaccine research. This paper consists of the following four sections: 1) Research priorities identified in the 2010 GFRA gap ana...

  11. Haplotype-based association analysis of the MAPT locus in Late Onset Alzheimer's disease

    Directory of Open Access Journals (Sweden)

    Morris John C

    2007-01-01

    Full Text Available Abstract Background Late onset Alzheimer's disease (LOAD is a common sporadic form of the illness, affecting individuals above the age of 65 yrs. A prominent hypothesis for the aetiopathology of Alzheimer's disease is that in the presence of a β-amyloid load, individuals expressing a pathogenic form of tau protein (MAPT are at increased risk for developing the disease. Genetic studies in this pursuit have, however, yielded conflicting results. A recent study showed a significant haplotype association (H1c with AD. The current study is an attempt to replicate this association in an independently ascertained cohort. Results In this report we present the findings of a haplotype analysis at the MAPT locus. We failed to detect evidence of association of the H1c haplotype at the MAPT locus with LOAD. None of the six SNPs forming the H1c haplotype showed evidence of association with disease. In addition, nested clade analysis suggested the presence of independent mutations at multiple points in the haplotype network or homoplasy at the MAPT locus. Such homoplasy can confound single SNP tests for association. We do not detect evidence that the set of SNPs forming the H1c haplotype in general or rs242557 in particular are pathogenic for LOAD. Conclusion In conclusion, we employed two contemporary haplotype analysis tools to perform haplotype association analysis at the MAPT locus. Our data suggest that the tagged SNPs forming the H1c haplotype do not have a causal role in the pathogenesis of LOAD.

  12. Anxiety and Risk of Incident Coronary Heart Disease : A Meta-Analysis

    NARCIS (Netherlands)

    Roest, Annelieke M.; Martens, Elisabeth J.; de Jonge, Peter; Denollet, Johan

    2010-01-01

    Objectives The purpose of this study was to assess the association between anxiety and risk of coronary heart disease (CHD). Background Less research has focused on the association of anxiety with incident CHD in contrast to other negative emotions, such as depression. Methods A meta-analysis of ref

  13. Multivariate Meta-Analysis of Preference-Based Quality of Life Values in Coronary Heart Disease

    NARCIS (Netherlands)

    Stevanovic, Jelena; Pechlivanoglou, Petros; Kampinga, Marthe A.; Krabbe, Paul F. M.; Postma, Maarten J.

    2016-01-01

    Background There are numerous health-related quality of life (HRQol) measurements used in coronary heart disease (CHD) in the literature. However, only values assessed with preference-based instruments can be directly applied in a cost-utility analysis (CUA). Objective To summarize and synthesize in

  14. Association Between Chronic Respiratory Diseases and Helicobacter pylori: A Meta-Analysis.

    Science.gov (United States)

    Wang, Lijie; Guan, Yan; Li, Yan; Liu, Xiuju; Zhang, Yakun; Wang, Fuxia; Kong, Lingling; Guo, Qisen

    2015-06-01

    The prevalence of chronic respiratory diseases (CRDs), including chronic bronchitis and chronic obstructive pulmonary disease (COPD), has increased significantly over the past decades. Several studies suggest that Helicobacter pylori infection may be related to the development of CRDs, but the results were not consistent. We carried out a meta-analysis to evaluate the potential association of H.pylori infection with CRDs. We conducted a systematic literature search in PubMed, Embase, Ovid, Google Scholar and CNKI from inception to October 31, 2013. The following search terms were used: "chronic respiratory disease," "chronic bronchitis," "chronic obstructive pulmonary disease" or "COPD" in combination with "Helicobacter pylori" or "Campylobacter pylori." According to established inclusion criteria, we selected all eligible published papers and then extracted essential data. To evaluate the association of H.pylori with chronic bronchitis and COPD, an overall analysis and subgroup analyses were conducted. A total of 9 case-control studies comprising 782 cases and 815 controls were included in the study. Pooled ORs were 2.30 (95%CI: 1.85-2.85) in the overall analysis, 2.90 (95%CI: 2.04-4.13) in the chronic bronchitis subgroup, and 2.11 (95%CI: 1.35-3.29) in the COPD subgroup. The results of the overall analysis and subgroup analyzed suggest a significant association between H.pylori and CRDs. Further studies are needed to clarify the pathogenetic mechanisms involved. Copyright © 2014 SEPAR. Published by Elsevier Espana. All rights reserved.

  15. Global foot-and-mouth disease research update and gap analysis: 2 - epidemiology, wildlife and economics

    Science.gov (United States)

    In 2014, the Global Foot-and-mouth disease Research ings in the fields of (i) epidemiology, (ii) wildlife and (iii) Alliance (GFRA) conducted a gap analysis of foot-and- economics. Although the three sections, epidemiology, wildlife and economics are presented as separate entities, the fields are ...

  16. Factor analysis in predominantly severe COPD : Identification of disease heterogeneity by easily measurable characteristics

    NARCIS (Netherlands)

    Postma, Dirkje S.; Anzueto, Antonio R.; Jenkins, Christine; Make, Barry J.; Similowski, Thomas; Ostlund, Ollie; Eriksson, Goran S.; Calverley, Peter M.

    2013-01-01

    Background: The clinical and demographic variables defining the heterogeneity of chronic obstructive pulmonary disease (COPD) are unclear. A post-hoc analysis of five randomised studies in patients with a history of previous exacerbations examined the clinical and demographic characteristics describ

  17. Adult height, coronary heart disease and stroke : a multi-locus Mendelian randomization meta-analysis

    NARCIS (Netherlands)

    Nüesch, Eveline; Dale, Caroline; Palmer, Tom M; White, Jon; Keating, Brendan J; van Iperen, Erik Pa; Goel, Anuj; Padmanabhan, Sandosh; Asselbergs, Folkert W; Verschuren, W M; Wijmenga, C; Van der Schouw, Y T; Onland-Moret, N C; Lange, Leslie A; Hovingh, G K; Sivapalaratnam, Suthesh; Morris, Richard W; Whincup, Peter H; Wannamethe, Goya S; Gaunt, Tom R; Ebrahim, Shah; Steel, Laura; Nair, Nikhil; Reiner, Alexander P; Kooperberg, Charles; Wilson, James F; Bolton, Jennifer L; McLachlan, Stela; Price, Jacqueline F; Strachan, Mark Wj; Robertson, Christine M; Kleber, Marcus E; Delgado, Graciela; März, Winfried; Melander, Olle; Dominiczak, Anna F; Farrall, Martin; Watkins, Hugh; Leusink, Maarten; Maitland-van der Zee, Anke H; de Groot, Mark Ch; Dudbridge, Frank; Hingorani, Aroon; Ben-Shlomo, Yoav; Lawlor, Debbie A; Amuzu, A; Caufield, M; Cavadino, A; Cooper, J; Davies, T L; Drenos, F; Engmann, J; Finan, C; Giambartolomei, C; Hardy, R; Humphries, S E; Hypponen, E; Kivimaki, M; Kuh, D; Kumari, M; Ong, K; Plagnol, V; Power, C; Richards, M; Shah, S; Shah, T; Sofat, R; Talmud, P J; Wareham, N; Warren, H; Whittaker, J C; Wong, A; Zabaneh, D; Davey Smith, George; Wells, Jonathan C; Leon, David A; Holmes, Michael V; Casas, Juan P

    2015-01-01

    BACKGROUND: We investigated causal effect of completed growth, measured by adult height, on coronary heart disease (CHD), stroke and cardiovascular traits, using instrumental variable (IV) Mendelian randomization meta-analysis. METHODS: We developed an allele score based on 69 single nucleotide poly

  18. Molecular analysis of myophosphorylase deficiency in Dutch patients with McArdle's disease.

    NARCIS (Netherlands)

    Martin, M.A.; Rubio, J.C.; Wevers, R.A.; Engelen, B.G.M. van; Steenbergen-Spanjers, G.C.H.; Diggelen, O.P. van; Visser, M. de; Die-Smulders, C.E.M. de; Blazquez, A.; Andreu, A.L.; Arenas, J.

    2004-01-01

    We report on 8 Dutch patients with McArdle's disease from 6 unrelated families. Molecular analysis revealed the presence of four previously described mutations: the common R49X mutation, the IVS14+1G>A mutation and the recently reported R269X and Y84X nonsense mutations; and two new molecular def

  19. Insights into gait disorders: walking variability using phase plot analysis, Huntington's disease.

    Science.gov (United States)

    Collett, Johnny; Esser, Patrick; Khalil, Hanan; Busse, Monica; Quinn, Lori; DeBono, Katy; Rosser, Anne; Nemeth, Andrea H; Dawes, Helen

    2014-09-01

    Huntington's disease (HD) is a progressive inherited neurodegenerative disorder. Identifying sensitive methodologies to quantitatively measure early motor changes have been difficult to develop. This exploratory observational study investigated gait variability and symmetry in HD using phase plot analysis. We measured the walking of 22 controls and 35 HD gene carriers (7 premanifest (PreHD)), 16 early/mid (HD1) and 12 late stage (HD2) in Oxford and Cardiff, UK. The unified Huntington's disease rating scale-total motor scores (UHDRS-TMS) and disease burden scores (DBS) were used to quantify disease severity. Data was collected during a clinical walk test (8.8 or 10 m) using an inertial measurement unit attached to the trunk. The 6 middle strides were used to calculate gait variability determined by spatiotemporal parameters (co-efficient of variation (CoV)) and phase plot analysis. Phase plots considered the variability in consecutive wave forms from vertical movement and were quantified by SDA (spatiotemporal variability), SDB (temporal variability), ratio ∀ (ratio SDA:SDB) and Δangleβ (symmetry). Step time CoV was greater in manifest HD (p0.05). Phase plot analysis identified differences between manifest HD and controls for SDB, Ratio ∀ and Δangle (all pplot analysis may be a sensitive method of detecting gait changes in HD and can be performed quickly during clinical walking tests.

  20. Large-scale gene-centric analysis identifies novel variants for coronary artery disease

    NARCIS (Netherlands)

    Butterworth, A.S.; Braund, P.S.; Hardwick, R.J.; Saleheen, D.; Peden, J.F.; Soranzo, N.; Chambers, J.C.; Kleber, M.E.; Keating, B.; Qasim, A.; Klopp, N.; Erdmann, J.; Basart, H.; Baumert, J.H.; Bezzina, C.R.; Boehm, B.O.; Brocheton, J.; Bugert, P.; Cambien, F.; Collins, R.; Couper, D.; Jong, J.S. de; Diemert, P.; Ejebe, K.; Elbers, C.C.; Elliott, P.; Fornage, M.; Frossard, P.; Garner, S.; Hunt, S.E.; Kastelein, J.J.; Klungel, O.H.; Kluter, H.; Koch, K.; Konig, I.R.; Kooner, A.S.; Liu, K.; McPherson, R.; Musameh, M.D.; Musani, S.; Papanicolaou, G.; Peters, A.; Peters, B.J.; Potter, S.; Psaty, B.M.; Rasheed, A.; Scott, J.; Seedorf, U.; Sehmi, J.S.; Sotoodehnia, N.; Stark, K.; Stephens, J.; Schoot, C.E. van der; Schouw, Y.T. van der; Harst, P. van der; Vasan, R.S.; Wilde, A.A.; Willenborg, C.; Winkelmann, B.R.; Zaidi, M.; Zhang, W.; Ziegler, A.; Koenig, W.; Matz, W.; Trip, M.D.; Reilly, M.P.; Kathiresan, S.; Schunkert, H.; Hamsten, A.; Hall, A.S.; Kooner, J.S.; Thompson, S.G.; Thompson, J.R.; Watkins, H.; Danesh, J.; Barnes, T.; Rafelt, S.; Codd, V.; Bruinsma, N.; Dekker, L.R.; Henriques, J.P.; Koch, K.T.; Winter, R.J. de; Alings, M.; Allaart, C.F.; Gorgels, A.P.; Verheugt, F.W.A.; Mueller, M.; Meisinger, C.; DerOhannessian, S.; Mehta, N.N.; Ferguson, J.; Hakonarson, H.; Matthai, W.; Wilensky, R.; Hopewell, J.C.; Parish, S.; Linksted, P.; Notman, J.; Gonzalez, H.; Young, A.; Ostley, T.; Munday, A.; Goodwin, N.; Verdon, V.; Shah, S.; Edwards, C.; Mathews, C.; Gunter, R.; Benham, J.; Davies, C.; Cobb, M.; Cobb, L.; Crowther, J.; Richards, A.; Silver, M.; Tochlin, S.; Mozley, S.; Clark, S.; Radley, M.; Kourellias, K.; Olsson, P.; Barlera, S.; Tognoni, G.; Rust, S.; Assmann, G.; Heath, S.; Zelenika, D.; Gut, I.; Green, F.; Farrall, M.; Peden, J.; Goel, A.; Ongen, H.; Franzosi, M.G.; Lathrop, M.; Clarke, R.; Aly, A.; Anner, K.; Bjorklund, K.; Blomgren, G.; Cederschiold, B.; Danell-Toverud, K.; Eriksson, P.; Grundstedt, U.; Heinonen, M.; Hellenius, M.L.; Hooft, F. van 't; Husman, K.; Lagercrantz, J.; Larsson, A.; Larsson, M.; Mossfeldt, M.; Malarstig, A.; Olsson, G.; Sabater-Lleal, M.; Sennblad, B.; Silveira, A.; Strawbridge, R.; Soderholm, B.; Ohrvik, J.; Zaman, K.S.; Mallick, N.H.; Azhar, M.; Samad, A.; Ishaq, M.; Shah, N.; Samuel, M.; Kathiresan, S.C.; Reilly, M.; Assimes, T.L.; Holm, H.; Preuss, M.; Stewart, A.F.; Barbalic, M.; Gieger, C.; Absher, D.; Aherrahrou, Z.; Allayee, H.; Altshuler, D.; Anand, S.; Andersen, K.; Anderson, J.L.; Ardissino, D.; Ball, S.G.; Balmforth, A.J.; Barnes, T.A.; Becker, L.C.; Becker, D.M.; Berger, K.; Bis, J.C.; Boekholdt, S.M.; Boerwinkle, E.; Brown, M.J.; Burnett, M.S.; Buysschaert, I.; Carlquist, J.F.; Chen, L.; Davies, R.W.; Dedoussis, G.; Dehghan, A.; Demissie, S.; Devaney, J.; Do, R.; Doering, A.; El Mokhtari, N.E.; Ellis, S.G.; Elosua, R.; Engert, J.C.; Epstein, S.; Faire, U. de; Fischer, M.; Folsom, A.R.; Freyer, J.; Gigante, B.; Girelli, D.; Gretarsdottir, S.; Gudnason, V.; Gulcher, J.R.; Tennstedt, S.; Halperin, E.; Hammond, N.; Hazen, S.L.; Hofman, A.; Horne, B.D.; Illig, T.; Iribarren, C.; Jones, G.T.; Jukema, J.W.; Kaiser, M.A.; Kaplan, L.M.; Khaw, K.T.; Knowles, J.W.; Kolovou, G.; Kong, A.; Laaksonen, R.; Lambrechts, D.; Leander, K.; Li, M.; Lieb, W.; Lettre, G.; Loley, C.; Lotery, A.J.; Mannucci, P.M.; Martinelli, N.; McKeown, P.P.; Meitinger, T.; Melander, O.; Merlini, P.A.; Mooser, V.; Morgan, T.; Muhleisen T.W., .; Muhlestein, J.B.; Musunuru, K.; Nahrstaedt, J.; Nothen, M.M.; Olivieri, O.; Peyvandi, F.; Patel, R.S.; Patterson, C.C.; Qu, L.; Quyyumi, A.A.; Rader, D.J.; Rallidis, L.S.; Rice, C.; Roosendaal, F.R.; Rubin, D.; Salomaa, V.; Sampietro, M.L.; Sandhu, M.S.; Schadt, E.; Schafer, A.; Schillert, A.; Schreiber, S.; Schrezenmeir, J.; Schwartz, S.M.; Siscovick, D.S.; Sivananthan, M.; Sivapalaratnam, S.; Smith, A.V.; Smith, T.B.; Snoep, J.D.; Spertus, J.A.; Stefansson, K.; Stirrups, K.; Stoll, M.; Tang, W.H.; Thorgeirsson, G.; Thorleifsson, G.; Tomaszewski, M.; Uitterlinden, A.G.; Rij, A.M. van; Voight, B.F.; Wareham, N.J.; AWells, G.; Wichmann, H.E.; Witteman, J.C.; Wright, B.J.; Ye, S.; Cupples, L.A.; Quertermous, T.; Marz, W.; Blankenberg, S.; Thorsteinsdottir, U.; Roberts, R.; O'Donnell, C.J.; Onland-Moret, N.C.; Setten, J. van; Bakker, P.I. de; Verschuren, W.M.; Boer, J.M.; Wijmenga, C.; Hofker, M.H.; Maitland-van der Zee, A.H.; Boer, A. de; Grobbee, D.E.; Attwood, T.; Belz, S.; Cooper, J.; Crisp-Hihn, A.; Deloukas, P.; Foad, N.; Goodall, A.H.; Gracey, J.; Gray, E.; Gwilliams, R.; Heimerl, S.; Hengstenberg, C.; Jolley, J.; Krishnan, U.; Lloyd-Jones, H.; Lugauer, I.; Lundmark, P.; Maouche, S.; Moore, J.S.; Muir, D.; Murray, E.; Nelson, C.P.; Neudert, J.; Niblett, D.; O'Leary, K.; Ouwehand, W.H.; Pollard, H.; Rankin, A.; Rice, C.M.; Sager, H.; Samani, N.J.; Sambrook, J.; Schmitz, G.; Scholz, M.; Schroeder, L.; Syvannen, A.C.; Wallace, C.

    2011-01-01

    Coronary artery disease (CAD) has a significant genetic contribution that is incompletely characterized. To complement genome-wide association (GWA) studies, we conducted a large and systematic candidate gene study of CAD susceptibility, including analysis of many uncommon and functional variants. W

  1. Meta-analysis of quality of life in coronary heart disease

    NARCIS (Netherlands)

    Stevanovic, J.; Pechlivanoglou, P.; Kampinga, M.; Krabbe, P.F.M.; Postma, M.J.

    2013-01-01

    Objectives: A large number of quality of life (QoL) values for patients with coronary heart disease (CHD) are available in the literature. From the abundance of QoL values in CHD, only preference-based values can be directly applied in cost-utility analysis (CUA). In this study we performed a multiv

  2. Large-Scale Gene-Centric Analysis Identifies Novel Variants for Coronary Artery Disease

    NARCIS (Netherlands)

    Butterworth, Adam S.; Braund, Peter S.; Farrall, Martin; Hardwick, Robert J.; Saleheen, Danish; Peden, John F.; Soranzo, Nicole; Chambers, John C.; Sivapalaratnam, Suthesh; Kleber, Marcus E.; Keating, Brendan; Qasim, Atif; Klopp, Norman; Erdmann, Jeanette; Assimes, Themistocles L.; Ball, Stephen G.; Balmforth, Anthony J.; Barnes, Timothy A.; Basart, Hanneke; Baumert, Jens; Bezzina, Connie R.; Boerwinkle, Eric; Boehm, Bernhard O.; Brocheton, Jessy; Bugert, Peter; Cambien, Francois; Clarke, Robert; Codd, Veryan; Collins, Rory; Couper, David; Cupples, L. Adrienne; de Jong, Jonas S.; Diemert, Patrick; Ejebe, Kenechi; Elbers, Clara C.; Elliott, Paul; Fornage, Myriam; Franzosi, Maria-Grazia; Frossard, Philippe; Garner, Stephen; Goel, Anuj; Goodall, Alison H.; Hengstenberg, Christian; Hunt, Sarah E.; Kastelein, John J. P.; Klungel, Olaf H.; Klueter, Harald; Koch, Kerstin; Koenig, Inke R.; Kooner, Angad S.; Laaksonen, Reijo; Lathrop, Mark; Li, Mingyao; Liu, Kiang; McPherson, Ruth; Musameh, Muntaser D.; Musani, Solomon; Nelson, Christopher P.; O'Donnell, Christopher J.; Ongen, Halit; Papanicolaou, George; Peters, Annette; Peters, Bas J. M.; Potter, Simon; Psaty, Bruce M.; Qu, Liming; Rader, Daniel J.; Rasheed, Asif; Rice, Catherine; Scott, James; Seedorf, Udo; Sehmi, Joban S.; Sotoodehnia, Nona; Stark, Klaus; Stephens, Jonathan; van der Schoot, C. Ellen; van der Schouw, Yvonne T.; Thorsteinsdottir, Unnur; Tomaszewski, Maciej; van der Harst, Pim; Vasan, Ramachandran S.; Wilde, Arthur A. M.; Willenborg, Christina; Winkelmann, Bernhard R.; Zaidi, Moazzam; Zhang, Weihua; Ziegler, Andreas; de Bakker, Paul I. W.; Koenig, Wolfgang; Maerz, Winfried; Trip, Mieke D.; Reilly, Muredach P.; Kathiresan, Sekar; Schunkert, Heribert; Hamsten, Anders; Hall, Alistair S.; Kooner, Jaspal S.; Thompson, Simon G.; Thompson, John R.; Deloukas, Panos; Ouwehand, Willem H.; Watkins, Hugh; Danesh, John; Samani, Nilesh J.

    Coronary artery disease (CAD) has a significant genetic contribution that is incompletely characterized. To complement genome-wide association (GWA) studies, we conducted a large and systematic candidate gene study of CAD susceptibility, including analysis of many uncommon and functional variants.

  3. [SWOT analysis of laboratory certification and accreditation on detection of parasitic diseases].

    Science.gov (United States)

    Xiong, Yan-hong; Zheng, Bin

    2014-04-01

    This study analyzes the strength, weakness, opportunity and threat (SWOT) of laboratory certification and accreditation on detection of parasitic diseases by SWOT analysis comprehensively, and it puts forward some development strategies specifically, in order to provide some indicative references for the further development.

  4. Large-Scale Gene-Centric Analysis Identifies Novel Variants for Coronary Artery Disease

    NARCIS (Netherlands)

    Butterworth, Adam S.; Braund, Peter S.; Farrall, Martin; Hardwick, Robert J.; Saleheen, Danish; Peden, John F.; Soranzo, Nicole; Chambers, John C.; Sivapalaratnam, Suthesh; Kleber, Marcus E.; Keating, Brendan; Qasim, Atif; Klopp, Norman; Erdmann, Jeanette; Assimes, Themistocles L.; Ball, Stephen G.; Balmforth, Anthony J.; Barnes, Timothy A.; Basart, Hanneke; Baumert, Jens; Bezzina, Connie R.; Boerwinkle, Eric; Boehm, Bernhard O.; Brocheton, Jessy; Bugert, Peter; Cambien, Francois; Clarke, Robert; Codd, Veryan; Collins, Rory; Couper, David; Cupples, L. Adrienne; de Jong, Jonas S.; Diemert, Patrick; Ejebe, Kenechi; Elbers, Clara C.; Elliott, Paul; Fornage, Myriam; Franzosi, Maria-Grazia; Frossard, Philippe; Garner, Stephen; Goel, Anuj; Goodall, Alison H.; Hengstenberg, Christian; Hunt, Sarah E.; Kastelein, John J. P.; Klungel, Olaf H.; Klueter, Harald; Koch, Kerstin; Koenig, Inke R.; Kooner, Angad S.; Laaksonen, Reijo; Lathrop, Mark; Li, Mingyao; Liu, Kiang; McPherson, Ruth; Musameh, Muntaser D.; Musani, Solomon; Nelson, Christopher P.; O'Donnell, Christopher J.; Ongen, Halit; Papanicolaou, George; Peters, Annette; Peters, Bas J. M.; Potter, Simon; Psaty, Bruce M.; Qu, Liming; Rader, Daniel J.; Rasheed, Asif; Rice, Catherine; Scott, James; Seedorf, Udo; Sehmi, Joban S.; Sotoodehnia, Nona; Stark, Klaus; Stephens, Jonathan; van der Schoot, C. Ellen; van der Schouw, Yvonne T.; Thorsteinsdottir, Unnur; Tomaszewski, Maciej; van der Harst, Pim; Vasan, Ramachandran S.; Wilde, Arthur A. M.; Willenborg, Christina; Winkelmann, Bernhard R.; Zaidi, Moazzam; Zhang, Weihua; Ziegler, Andreas; de Bakker, Paul I. W.; Koenig, Wolfgang; Maerz, Winfried; Trip, Mieke D.; Reilly, Muredach P.; Kathiresan, Sekar; Schunkert, Heribert; Hamsten, Anders; Hall, Alistair S.; Kooner, Jaspal S.; Thompson, Simon G.; Thompson, John R.; Deloukas, Panos; Ouwehand, Willem H.; Watkins, Hugh; Danesh, John; Samani, Nilesh J.

    2011-01-01

    Coronary artery disease (CAD) has a significant genetic contribution that is incompletely characterized. To complement genome-wide association (GWA) studies, we conducted a large and systematic candidate gene study of CAD susceptibility, including analysis of many uncommon and functional variants. W

  5. Association between alcohol and cardiovascular disease : Mendelian randomisation analysis based on individual participant data

    NARCIS (Netherlands)

    Holmes, Michael V.; Dale, Caroline E.; Zuccolo, Luisa; Silverwood, Richard J.; Guo, Yiran; Ye, Zheng; Prieto-Merino, David; Dehghan, Abbas; Trompet, Stella; Wong, Andrew; Cavadino, Alana; Drogan, Dagmar; Padmanabhan, Sandosh; Li, Shanshan; Yesupriya, Ajay; Leusink, Maarten; Sundstrom, Johan; Hubacek, Jaroslav A.; Pikhart, Hynek; Swerdlow, Daniel I.; Panayiotou, Andrie G.; Borinskaya, Svetlana A.; Finan, Chris; Shah, Sonia; Kuchenbaecker, Karoline B.; Shah, Tina; Engmann, Jorgen; Folkersen, Lasse; Eriksson, Per; Ricceri, Fulvio; Melander, Olle; Sacerdote, Carlotta; Gamble, Dale M.; Rayaprolu, Sruti; Ross, Owen A.; McLachlan, Stela; Vikhireva, Olga; Sluijs, Ivonne; Scott, Robert A.; Adamkova, Vera; Flicker, Leon; Van Bockxmeer, Frank M.; Power, Christine; Marques-Vidal, Pedro; Meade, Tom; Marmot, Michael G.; Ferro, Jose M.; Paulos-Pinheiro, Sofia; Humphries, Steve E.; Talmud, Philippa J.; Mateo Leach, Irene; Verweij, Niek; Linneberg, Allan; Skaaby, Tea; Doevendans, Pieter A.; Cramer, Maarten J.; Van der Harst, Pim; Klungel, Olaf H.; Dowling, Nicole F.; Dominiczak, Anna F.; Kumari, Meena; Nicolaides, Andrew N.; Weikert, Cornelia; Boeing, Heiner; Ebrahim, Shah; Gaunt, Tom R.; Price, Jackie F.; Lannfelt, Lars; Peasey, Anne; Kubinova, Ruzena; Pajak, Andrzej; Malyutina, Sofia; Voevoda, Mikhail I.; Tamosiunas, Abdonas; Maitland-van der Zee, Anke H.; Norman, Paul E.; Hankey, Graeme J.; Bergmann, Manuela M.; Hofman, Albert; Franco, Oscar H.; Cooper, Jackie; Palmen, Jutta; Spiering, Wilko; de Jong, Pim A.; Kuh, Diana; Hardy, Rebecca; Uitterlinden, Andre G.; Ikram, M. Arfan; Ford, Ian; Hyppoenen, Elina; Almeida, Osvaldo P.; Wareham, Nicholas J.; Khaw, Kay-Tee; Hamsten, Anders; Husemoen, Lise Lotte N.; Tjonneland, Anne; Tolstrup, Janne S.; Rimm, Eric; Beulens, Joline W. J.; Verschuren, W. M. Monique; Onland-Moret, N. Charlotte; Hofker, Marten H.; Wannamethee, S. Goya; Whincup, Peter H.; Morris, Richard; Vicente, Astrid M.; Watkins, Hugh; Farrall, Martin; Jukema, J. Wouter; Meschia, James; Cupples, L. Adrienne; Sharp, Stephen J.; Fornage, Myriam; Kooperberg, Charles; LaCroix, Andrea Z.; Dai, James Y.; Lanktree, Matthew B.; Siscovick, David S.; Jorgenson, Eric; Spring, Bonnie; Coresh, Josef; Li, Yun R.; Buxbaum, Sarah G.; Schreiner, Pamela J.; Ellison, R. Curtis; Tsai, Michael Y.; Patel, Sanjay R.; Redline, Susan; Johnson, Andrew D.; Hoogeveen, Ron C.; Rotter, Jerome I.; Boerwinkle, Eric; de Bakker, Paul I. W.; Kivimaki, Mika; Asselbergs, Folkert W.; Sattar, Naveed; Lawlor, Debbie A.; Whittaker, John; Smith, George Davey; Mukamal, Kenneth; Psaty, Bruce M.; Wilson, James G.; Lange, Leslie A.; Hamidovic, Ajna; Hingorani, Aroon D.; Nordestgaard, Borge G.; Bobak, Martin; Leon, David A.; Langenberg, Claudia; Palmer, Tom M.; Reiner, Alex P.; Keating, Brendan J.; Dudbridge, Frank; Casas, Juan P.

    2014-01-01

    Objective To use the rs1229984 variant in the alcohol dehydrogenase 1B gene (ADH1B) as an instrument to investigate the causal role of alcohol in cardiovascular disease. Design Mendelian randomisation meta-analysis of 56 epidemiological studies. Participants 261 991 individuals of European descent,

  6. Multivariate Meta-Analysis of Preference-Based Quality of Life Values in Coronary Heart Disease

    NARCIS (Netherlands)

    Stevanović, Jelena; Pechlivanoglou, Petros; Kampinga, Marthe A; Krabbe, Paul F M; Postma, Maarten J

    2016-01-01

    BACKGROUND: There are numerous health-related quality of life (HRQol) measurements used in coronary heart disease (CHD) in the literature. However, only values assessed with preference-based instruments can be directly applied in a cost-utility analysis (CUA). OBJECTIVE: To summarize and synthesize

  7. Multivariate meta-analysis of preference-based quality of life values in coronary heart disease

    NARCIS (Netherlands)

    Stevanović, Jelena; Pechlivanoglou, Petros; Kampinga, Marthe A.; Krabbe, Paul F. M.; Postma, Maarten J.

    2016-01-01

    Background: There are numerous health-related quality of life (HRQol) measurements used in coronary heart disease (CHD) in the literature. However, only values assessed with preferencebased instruments can be directly applied in a cost-utility analysis (CUA). Objective: To summarize and synthesize i

  8. Sibling analysis of adolescent intelligence and chronic diseases in older adulthood.

    Science.gov (United States)

    Jokela, Markus; Batty, G David; Deary, Ian J; Silventoinen, Karri; Kivimäki, Mika

    2011-07-01

    We examined whether associations of adolescent intelligence with chronic diseases in adulthood are explained by socioeconomic factors, health behaviors, or common sources of variance in intelligence and chronic disease risk. A prospective cohort study (Wisconsin Longitudinal Study) of high school graduates and their siblings with intelligence assessed in adolescence and chronic diseases reported in adulthood (n = 10,168; mean age 53.9 and n = 9051; mean age 64.8 in two follow-ups). After adjustment for age and sex, greater intelligence was associated with lower risk of heart disease (odds ratio per 1 SD advantage in intelligence 0.93; 95% confidence interval 0.87-0.99), circulation problems (0.85; 0.79-0.92), stroke (0.80; 0.70-0.91), and diabetes (0.88; 0.81-0.95). Participants' risk of stroke and circulation problems also was predicted by their sibling's intelligence, suggesting potential common causes for intelligence and cerebrovascular diseases. Sibling analysis provided no support for shared family environment in explaining associations between intelligence and disease outcomes because between-families and within-siblings regression models were not different. Adjusting for common risk factors had little impact on these associations. In contrast, adjusting for adult socioeconomic status attenuated the associations by 25%-100% (66% on average). Multiple mechanisms may link intelligence with occurrence of chronic diseases of major public health importance. Copyright © 2011 Elsevier Inc. All rights reserved.

  9. Model analysis for plant disease dynamics co-mediated by herbivory and herbivore-borne phytopathogens.

    Science.gov (United States)

    Nakazawa, Takefumi; Yamanaka, Takehiko; Urano, Satoru

    2012-08-23

    Plants are subject to diseases caused by pathogens, many of which are transmitted by herbivorous arthropod vectors. To understand plant disease dynamics, we studied a minimum hybrid model combining consumer-resource (herbivore-plant) and susceptible-infected models, in which the disease is transmitted bi-directionally between the consumer and the resource from the infected to susceptible classes. Model analysis showed that: (i) the disease is more likely to persist when the herbivore feeds on the susceptible plants rather than the infected plants, and (ii) alternative stable states can exist in which the system converges to either a disease-free or an endemic state, depending on the initial conditions. The second finding is particularly important because it suggests that the disease may persist once established, even though the initial prevalence is low (i.e. the R(0) rule does not always hold). This situation is likely to occur when the infection improves the plant nutritive quality, and the herbivore preferentially feeds on the infected resource (i.e. indirect vector-pathogen mutualism). Our results highlight the importance of the eco-epidemiological perspective that integration of tripartite interactions among host plant, plant pathogen and herbivore vector is crucial for the successful control of plant diseases.

  10. Distinguishing between vascular dementia and Alzheimer's disease by means of the WAIS: a meta-analysis.

    Science.gov (United States)

    Oosterman, Joukje M; Scherder, Erik J A

    2006-10-01

    This study was intended to, meta-analytically, review whether the subtests of the Wechsler Adult Intelligence Scale are useful in differentiating between vascular dementia and Alzheimer's disease. We expected the Alzheimer's disease group to outperform the vascular dementia group on those subtests that require executive functions, whereas inferior performance of the Alzheimer's disease patients was expected on memory tests. Two steps in the analysis were undertaken in an attempt to clarify this issue. The first step consisted of including all studies examining Wechsler Adult Intelligence Scale subtest performance in vascular dementia and Alzheimer's disease patients. Secondly, a subcortical vascular dementia subgroup was distinguished and performance of this subgroup was compared to that of the Alzheimer's disease group.Overall, the analyses showed that both the vascular dementia and, more strongly, the subcortical vascular dementia group revealed decreased executive functions on several subtests compared to the Alzheimer's disease group. The Alzheimer's disease group showed inferior performance on a single semantic memory test only compared to both the vascular dementia and the subcortical vascular dementia groups. These results indicate that several subtests of the Wechsler Adult Intelligence Scale can differentiate between these two clinical groups, and that most of these tests reveal more impaired performance in the vascular dementia group.

  11. Prediction of MicroRNA-Disease Associations Based on Social Network Analysis Methods

    Directory of Open Access Journals (Sweden)

    Quan Zou

    2015-01-01

    Full Text Available MicroRNAs constitute an important class of noncoding, single-stranded, ~22 nucleotide long RNA molecules encoded by endogenous genes. They play an important role in regulating gene transcription and the regulation of normal development. MicroRNAs can be associated with disease; however, only a few microRNA-disease associations have been confirmed by traditional experimental approaches. We introduce two methods to predict microRNA-disease association. The first method, KATZ, focuses on integrating the social network analysis method with machine learning and is based on networks derived from known microRNA-disease associations, disease-disease associations, and microRNA-microRNA associations. The other method, CATAPULT, is a supervised machine learning method. We applied the two methods to 242 known microRNA-disease associations and evaluated their performance using leave-one-out cross-validation and 3-fold cross-validation. Experiments proved that our methods outperformed the state-of-the-art methods.

  12. Analysis of Saccular Function With Vestibular Evoked Myogenic Potential Test in Meniere's Disease.

    Science.gov (United States)

    Dabiri, Sasan; Yazdani, Nasrin; Esfahani, Mahdis; Tari, Niloufar; Adil, Susan; Mahvi, Zahra; Rezazadeh, Nima

    2017-02-01

    Meniere's disease is the disorder of inner ear characterized by vertigo, tinnitus and sensorineural hearing loss. The vestibular evoked myogenic potential (VEMP) test could be useful in the analysis of saccular function, and diagnosis of Meniere's disease. In this study, we've analyzed the saccular function, using VEMP test in different groups of Meniere's disease. Patients were categorized as possible, probable or definite Meniere's disease groups according to the guideline of American Academy of Otolaryngology-Head and Neck Surgery. The exclusion criteria were neuromuscular system diseases, diseases of central nervous system, inner ear disorders, conductive hearing loss, a history of ototoxic drug consumption, being a drug abuser and a positive history of inner ear surgery or manipulations. The VEMP test is the recording of positive and negative waves from sternocleidomastoid muscle that is made by an auditory click to the ear. From the total of 100 patients, the waves of VEMP test was seen in 59 patients which 19 patients had abnormal amplitude, and latency and 40 patients were with normally recorded waves. There was a significant relationship between the severity of hearing loss and a VEMP test without any recorded waves. Most of the cases with 'no wave recorded' VEMP test, were patients with severe hearing loss. However, there wasn't any relation between the pattern of hearing loss and 'no wave recorded' VEMP test. VEMP test could be a valuable diagnostic clue especially in patients with definite Meniere's disease.

  13. Systematic review with meta-analysis: coffee consumption and the risk of gallstone disease.

    Science.gov (United States)

    Zhang, Y-P; Li, W-Q; Sun, Y-L; Zhu, R-T; Wang, W-J

    2015-09-01

    Epidemiologic evidence on coffee consumption reducing the risk of gallstone disease has been contradictory. To perform a meta-analysis of observational studies, to investigate an association and dose-response of coffee consumption with gallstone disease. We used PubMed and EMBASE databases to identify all published studies before June 2015. A random-effects model was used to compute a pooled relative risk (RR) and corresponding 95% confidence intervals (CIs). One case-control study and five prospective cohort studies (with seven cohorts) involving 227,749 participants and 11,477 gallstone disease cases were included. Coffee consumption was significantly associated with a reduced risk of gallstone disease (RR, 0.83; 95% CI, 0.76 to 0.89; I(2) = 35.9%), based on prospective studies; specifically, we observed an inverse relation in females, but not in males. The case-control study did not reveal any association between coffee and gallstone disease (OR, 0.99; 95% CI, 0.64 to 1.53). In a dose-response analysis, the RR of gallstone disease was 0.95 (95% CI, 0.91 to 1.00; P = 0.049) per 1 cup/day of coffee consumption. A significant nonlinear dose-response association was also identified (P for nonlinearity = 0.0106). For people who drank 2, 4 and 6 cups of coffee per day, the estimated RRs of gallstone disease were 0.89 (95% CI, 0.79 to 0.99), 0.81 (95% CI, 0.72 to 0.92) and 0.75 (95% CI, 0.64 to 0.88), respectively, compared with the lowest level drinkers. This study suggests that coffee consumption is related to a significantly decreased risk of gallstone disease. © 2015 John Wiley & Sons Ltd.

  14. Epidemiological survey and risk factor analysis of fatty liver disease of adult residents, Beijing, China.

    Science.gov (United States)

    Yan, Jie; Xie, Wen; Ou, Wei-ni; Zhao, Hong; Wang, Su-yun; Wang, Jian-hui; Wang, Qi; Yang, Yu-ying; Feng, Xin; Cheng, Jun

    2013-10-01

    With the changes in diet structure and lifestyle, the incidence of fatty liver disease is increasing in China, especially in cities. The goal of the present study was to accurately determine the prevalence and risk factors of fatty liver disease in Beijing residents, China. By using random multistage stratification and cluster sampling, residents aged > 20 years in Dongcheng District and Tongzhou District were recruited, and questionnaire survey, physical examination, detection of fasting glucose, blood lipids and liver biochemistry, and ultrasonography of the liver, gallbladder, and spleen were carried out. Database EpiData 3.0 was employed for data input, followed by statistical analysis with SPSS version 11.0. A total of 3762 residents were included in the present study including 2328 males and 1434 females with a mean age of 46.37 ± 14.28 years (range 20-92 years). Ultrasonography revealed fatty liver in 1486 residents with a prevalence of 39.5%. Moreover, non-alcoholic fatty liver disease (NAFLD) and alcoholic fatty liver disease were found in 1177 (31.3%) and 309 (8.2%) residents, respectively. After adjustment of prevalence based on the age and gender constituents of Beijing residents, the standardized prevalence of overall fatty liver disease, NAFLD, and alcoholic fatty liver disease was 35.1%, 31.0%, and 4.1%, respectively. Binary logistic regression analysis revealed waist-to-hip ratio, diastolic pressure, fasting blood glucose, triglyceride, high-density lipoprotein cholesterol, and low density lipoprotein cholesterol were closely related to NAFLD. The Beijing residents have a high prevalence of fatty liver disease as much as 35.1%, which is characterized by NAFLD. Obesity, and glucose and lipid metabolism disorders are the main risk factors of fatty liver disease. © 2013 Journal of Gastroenterology and Hepatology Foundation and Wiley Publishing Asia Pty Ltd.

  15. A systematic review and meta-analysis of clinical variables used in Huntington disease research.

    Science.gov (United States)

    Franciosi, Sonia; Shim, Yaein; Lau, Margaret; Hayden, Michael R; Leavitt, Blair R

    2013-12-01

    Treatment effect in Huntington disease (HD) clinical trials has relied on primary outcome measures such as total motor score or functional rating scales. However, these measures have limited sensitivity, particularly in pre- to early stages of the disease. We performed a systematic review of HD clinical studies to identify endpoints that correlate with disease severity. Using standard HD keywords and terms, we identified 749 published studies from 1993 to 2011 based on the availability of demographic, biochemical, and clinical measures. The average and variability of each measure was abstracted and stratified according to pre-far, pre-close, early, mild, moderate, and severe HD stages. A fixed-effect meta-analysis on selected variables was conducted at various disease stages. A total of 1,801 different clinical variables and treatment outcomes were identified. Unified Huntington Disease Rating Scale (UHDRS) Motor, UHDRS Independence, and Trail B showed a trend toward separation between HD stages. Other measures, such as UHDRS Apathy, Verbal Fluency, and Symbol Digit, could only distinguish between pre- and early stages of disease and later stages, whereas other measures showed little correlation with increasing HD stages. Using cross-sectional data from published HD clinical trials, we have identified potential endpoints that could be used to track HD disease progression and treatment effect. Longitudinal studies, such as TRACK-HD, are critical for assessing the value of potential markers of disease progression for use in future HD therapeutic trials. A list of variables, references used in this meta-analysis, and database is available at http://www.cmmt.ubc.ca/research/investigators/leavitt/publications.

  16. Metabolomic analysis of human cirrhosis, hepatocellular carcinoma, non-alcoholic fatty liver disease and non-alcoholic steatohepatitis diseases.

    Science.gov (United States)

    Safaei, Akram; Arefi Oskouie, Afsaneh; Mohebbi, Seyed Reza; Rezaei-Tavirani, Mostafa; Mahboubi, Mohammad; Peyvandi, Maryam; Okhovatian, Farshad; Zamanian-Azodi, Mona

    2016-01-01

    Metabolome analysis is used to evaluate the characteristics and interactions of low molecular weight metabolites under a specific set of conditions. In cirrhosis, hepatocellular carcinoma, non-alcoholic fatty liver disease (NAFLD) and non-alcoholic steatotic hepatitis (NASH) the liver does not function thoroughly due to long-term damage. Unfortunately the early detection of cirrhosis, HCC, NAFLD and NASH is a clinical problem and determining a sensitive, specific and predictive novel method based on biomarker discovery is an important task. On the other hand, metabolomics has been reported as a new and powerful technology in biomarker discovery and dynamic field that cause global comprehension of system biology. In this review, it has been collected a heterogeneous set of metabolomics published studies to discovery of biomarkers in researches to introduce diagnostic biomarkers for early detection and the choice of patient-specific therapies.

  17. The age-related advancement of arterial disease measured by Doppler ultrasound diastolic flow analysis.

    Science.gov (United States)

    Terenzi, T; Gallagher, D; DeMeersman, R; Beadle, E; Muller, D

    1993-10-01

    To quantify by A-mode Doppler sonography the age-related progression of arterial disease so that age dependent normal values may be established for the screening Doppler peripheral arterial exam. Arterial distensibility was assessed by A-mode Doppler diastolic flow analysis as a measure of atherogenesis. These values will increase the sensitivity and decrease the incidence of false-positive results when the Doppler exam is utilized to differentially diagnosis vascular and sciatic neurogenic claudication. The relationship between age and results from the standard ankle/arm index ultrasound pneumatic cuff examination was also analyzed. A two by three analysis of variance with orthogonal Helmert contrast codes and simple linear regression analysis was utilized for this cross-sectionally designed investigation. The dependent measures of diastolic flow analysis and ankle/arm pressure index were obtained within three nested successively increasing age groups. Chiropractic office. Studied were a total of 90 sedentary nonsmoking subjects, aged 23-79 yr, all of whom had normally accepted levels of serum glucose, cholesterol and blood pressure. Subjects were screened for evidence of aortic coarctation, myocardial infarction, tachyarrhythmia, aortic valve stenosis, mitral prolapse, hypertension, hypercholesterolemia, diabetes and peripheral occlusive arterial disease. Anthropometric measurements and percent body fat were obtained. A predictive oxygen consumption bike ergometer test was performed to obtain aerobic capacity. The commonly utilized standard ankle/arm index ultrasound pneumatic cuff examination and arterial diastolic flow analysis were performed with A-mode Doppler ultrasound on all subjects. These results demonstrate that a significant inverse linear relationship exists between aging and arterial compliance (p < .0001) in our population. Diastolic flow analysis had a greater sensitivity to arterial disease than the standard ankle/arm index ultrasound pneumatic

  18. Integrative network analysis unveils convergent molecular pathways in Parkinson's disease and diabetes.

    Directory of Open Access Journals (Sweden)

    Jose A Santiago

    Full Text Available BACKGROUND: Shared dysregulated pathways may contribute to Parkinson's disease and type 2 diabetes, chronic diseases that afflict millions of people worldwide. Despite the evidence provided by epidemiological and gene profiling studies, the molecular and functional networks implicated in both diseases, have not been fully explored. In this study, we used an integrated network approach to investigate the extent to which Parkinson's disease and type 2 diabetes are linked at the molecular level. METHODS AND FINDINGS: Using a random walk algorithm within the human functional linkage network we identified a molecular cluster of 478 neighboring genes closely associated with confirmed Parkinson's disease and type 2 diabetes genes. Biological and functional analysis identified the protein serine-threonine kinase activity, MAPK cascade, activation of the immune response, and insulin receptor and lipid signaling as convergent pathways. Integration of results from microarrays studies identified a blood signature comprising seven genes whose expression is dysregulated in Parkinson's disease and type 2 diabetes. Among this group of genes, is the amyloid precursor protein (APP, previously associated with neurodegeneration and insulin regulation. Quantification of RNA from whole blood of 192 samples from two independent clinical trials, the Harvard Biomarker Study (HBS and the Prognostic Biomarker Study (PROBE, revealed that expression of APP is significantly upregulated in Parkinson's disease patients compared to healthy controls. Assessment of biomarker performance revealed that expression of APP could distinguish Parkinson's disease from healthy individuals with a diagnostic accuracy of 80% in both cohorts of patients. CONCLUSIONS: These results provide the first evidence that Parkinson's disease and diabetes are strongly linked at the molecular level and that shared molecular networks provide an additional source for identifying highly sensitive biomarkers

  19. Cloning and Sequence Analysis of Disease Resistance Gene Analogues from Three Wild Rice Species in Yunnan

    Institute of Scientific and Technical Information of China (English)

    LIU Ji-mei; CHENG Zai-quan; YANG Ming-zhi; WU Cheng-jun; WANG Ling-xian; SUN Yi-ding; HUANG Xing-qi

    2003-01-01

    Two sets of degenerate oligonucleotide primers were designed according to amino acid conservedregions of reported plant disease resistance genes which encode proteins that contain nucleotide-binding site andleucine-rich repeats(NBS-LRR), and the plant disease resistance genes which encode serine/threonine proteinkinase(STK). By polymerase chain reaction(PCR), disease resistance gene analogues have been amplified fromthree wild rice species in Yunnan Province, China. The DNA fragments from amplification have been clonedinto the pGEM-T vector respectively. Sequencing of the DNA fragments indicated that 7 classes, 2 classes and6 classes NBS-LRR disease resistance gene analogues from Oryza rufipogon Griff. , Oryza officinalis Wall. ,and Oryza meyeriana Baill. were obtained respectively. The two representative fragments of TO12 from Ory-za officinalis Wall. and TR19 from Oryza rufipogon Griff. belong to the same class and homology of theirsequences are 100%. The result shows that the sequences of the same class disease resistance gene analogueshave no difference among different species of wild rice. 5 classes STK disease resistance gene analogues werealso obtained among which 4 classes from Oryza rufipogon Griff. , 1 class from Oryza officinalis Wall. Bycomparison analysis of amino acid sequences, we found that the obtained disease resistance gene analogues havevery iow identity(low to 25%) with the reported disease resistance gene L6, N, Bs2, Prf, Pto, Lr10 and Xa21etc. The finding suggests that the obtained disease resistance gene analogues are analogues of putative diseaseresistance genes that have not been isolated so far.

  20. Sonoclot Signature Analysis in Patients with Liver Disease and Its Correlation with Conventional Coagulation Studies

    Directory of Open Access Journals (Sweden)

    Priyanka Saxena

    2013-01-01

    Full Text Available Introduction. Liver disease patients have complex hemostatic defects leading to a delicate, unstable balance between bleeding and thrombosis. Conventional tests such as PT and APTT are unable to depict these defects completely. Aims. This study aimed at analyzing the abnormal effects of liver disease on sonoclot signature by using sonoclot analyzer (which depicts the entire hemostatic pathway and assessing the correlations between sonoclot variables and conventional coagulation tests. Material and Methods. Clinical and laboratory data from fifty inpatients of four subgroups of liver disease, including decompensated cirrhosis, chronic hepatitis, cirrhosis with HCC and acute-on-chronic liver failure were analyzed. All patients and controls were subjected to sonoclot analysis and correlated with routine coagulation parameters including platelet count, PT, APTT, fibrinogen, and D-dimer. Results. The sonoclot signatures demonstrated statistically significant abnormalities in patients with liver disease as compared to healthy controls. PT and APTT correlated positively with SONACT (P<0.008 and <0.0015, resp. while platelet count and fibrinogen levels depicted significant positive and negative correlations with clot rate and SONACT respectively. Conclusion. Sonoclot analysis may prove to be an efficient tool to assess coagulopathies in liver disease patients. Clot rate could emerge as a potential predictor of hypercoagulability in these patients.

  1. Identifying Flood-Related Infectious Diseases in Anhui Province, China: A Spatial and Temporal Analysis.

    Science.gov (United States)

    Gao, Lu; Zhang, Ying; Ding, Guoyong; Liu, Qiyong; Jiang, Baofa

    2016-04-01

    The aim of this study was to explore infectious diseases related to the 2007 Huai River flood in Anhui Province, China. The study was based on the notified incidences of infectious diseases between June 29 and July 25 from 2004 to 2011. Daily incidences of notified diseases in 2007 were compared with the corresponding daily incidences during the same period in the other years (from 2004 to 2011, except 2007) by Poisson regression analysis. Spatial autocorrelation analysis was used to test the distribution pattern of the diseases. Spatial regression models were then performed to examine the association between the incidence of each disease and flood, considering lag effects and other confounders. After controlling the other meteorological and socioeconomic factors, malaria (odds ratio [OR] = 3.67, 95% confidence interval [CI] = 1.77-7.61), diarrhea (OR = 2.16, 95% CI = 1.24-3.78), and hepatitis A virus (HAV) infection (OR = 6.11, 95% CI = 1.04-35.84) were significantly related to the 2007 Huai River flood both from the spatial and temporal analyses. Special attention should be given to develop public health preparation and interventions with a focus on malaria, diarrhea, and HAV infection, in the study region.

  2. Cardiovascular disease mortality and cancer incidence in vegetarians: a meta-analysis and systematic review.

    Science.gov (United States)

    Huang, Tao; Yang, Bin; Zheng, Jusheng; Li, Guipu; Wahlqvist, Mark L; Li, Duo

    2012-01-01

    Prospective cohort studies have examined mortality and overall cancer incidence among vegetarians, but the results have been inconclusive. The objective of the present meta-analysis was to investigate cardiovascular disease mortality and cancer incidence among vegetarians and nonvegetarians. Medline, EMBASE and Web Of Science databases were searched for cohort studies published from inception to September 2011. Studies were included if they contained the relative risk (RR) and corresponding 95% CI. Participants were from the UK, Germany, California, USA, the Netherlands and Japan. Seven studies with a total of 124,706 participants were included in this analysis. All-cause mortality in vegetarians was 9% lower than in nonvegetarians (RR = 0.91; 95% CI, 0.66-1.16). The mortality from ischemic heart disease was significantly lower in vegetarians than in nonvegetarians (RR = 0.71; 95% CI, 0.56-0.87). We observed a 16% lower mortality from circulatory diseases (RR = 0.84; 95% CI, 0.54-1.14) and a 12% lower mortality from cerebrovascular disease (RR = 0.88; 95% CI, 0.70-1.06) in vegetarians compared with nonvegetarians. Vegetarians had a significantly lower cancer incidence than nonvegetarians (RR = 0.82; 95% CI, 0.67-0.97). Our results suggest that vegetarians have a significantly lower ischemic heart disease mortality (29%) and overall cancer incidence (18%) than nonvegetarians. Copyright © 2012 S. Karger AG, Basel.

  3. Celiac disease in Iran: a systematic review and meta-analysis

    Science.gov (United States)

    Mohammadibakhsh, Roghayeh; Sohrabi, Rahim; Salemi, Morteza; Mirghaed, Masood Taheri; Behzadifar, Masoud

    2017-01-01

    Introduction Celiac disease (CD) is a chronic autoimmune-mediated disorder with both intestinal and systemic manifestations. The aim of this study was to determine the prevalence of celiac disease in Iran. Methods We conducted a systematic search on Embase, Pub Med, Web of Science, Google Scholar, MagIran, Scientific Information database (SID) and Iranmedex from 2003 through to November 2015. The Der-Simonian/Laird’s (DL), with a 95% confidence interval employed to estimate the overall pooled prevalence. Heterogeneity was investigated by using subgroup analysis based on sample size and time of study. Results Sixty-three studies with 36,833 participants met inclusion criteria for analysis. The overall prevalence of celiac disease in 63 studies that had used serological tests for the diagnosis was observed as 3% (95% CI: 0.03–0.03) and the overall prevalence of celiac disease in studies that had used biopsy method for diagnosis was observed as 2% (95% CI: 0.01–0.02). Conclusion The prevalence of celiac disease in Iran was similar or even higher than world-wide reported. PMID:28461861

  4. Ensemble multivariate analysis to improve identification of articular cartilage disease in noisy Raman spectra.

    Science.gov (United States)

    Richardson, Wade; Wilkinson, Dan; Wu, Ling; Petrigliano, Frank; Dunn, Bruce; Evseenko, Denis

    2015-07-01

    The development of new methods for the early diagnosis of cartilage disease could offer significant improvement in patient care. Raman spectroscopy is an emerging biomedical technology with unique potential to recognize disease tissues, though difficulty in obtaining the samples needed to train a diagnostic and excessive signal noise could slow its development into a clinical tool. In the current report we detail the use of principal component analysis--linear discriminant analysis (PCA-LDA) on spectra from pairs of materials modeling cartilage disease to create multiple spectral scoring metrics, which could limit the reliance on primary training data for identifying disease in low signal-to-noise-ratio (SNR) Raman spectra. Our proof-of-concept experiments show that combinations of these model-metrics has the potential to improve the classification of low-SNR Raman spectra from human normal and osteoarthritic (OA) cartilage over a single metric trained with spectra from the same healthy and OA tissues. Scatter plot showing the PCA-LDA derived human-disease-metric scores versus rat-model-metric scores for 7656 low signal-to-noise spectra from healthy (blue) and osteoarthritic (red) cartilage. Light vertical and horizontal lines represent the optimized single metric classification boundary. Dark diagonal line represents the classification of boundary resulting from the optimized combination of the two metrics. © 2014 WILEY-VCH Verlag GmbH & Co. KGaA, Weinheim.

  5. Hearing impairment and risk of Alzheimer's disease: a meta-analysis of prospective cohort studies.

    Science.gov (United States)

    Zheng, Yuqiu; Fan, Shengnuo; Liao, Wang; Fang, Wenli; Xiao, Songhua; Liu, Jun

    2017-02-01

    Observational studies suggested an association between hearing impairment and cognitive disorders. However, whether hearing impairment is an independent risk factor or a harbinger of Alzheimer's disease remains controversial. Our goal was to assess the association between hearing impairment (HI) and the risk of Alzheimer's disease (AD) by conducting a meta-analysis of prospective cohort studies. We comprehensively searched the PubMed, Embase, Web of Science and Cochrane Library databases on January 19, 2016 to incorporate all the prospective cohort studies meeting the inclusion criteria to perform a systematic review and meta-analysis. Four prospective cohort studies with comparison between hearing impairment and normal hearing were incorporated, with 7461 participants. The outcomes of three studies were the incidence of Alzheimer's disease and the outcome of the fourth study was the incidence of mild cognitive impairment. The overall combined relative risk of people with hearing impairment to develop Alzheimer's disease was 4.87 (95% CI 0.90-26.35; p = 0.066), compared with the control group. Since both Alzheimer's disease and mild cognitive impairment are cognitive disorders, we incorporated all the four studies and the overall combined relative risk was 2.82 (95% CI 1.47-5.42; p = 0.002), indicating that the difference was significant. This meta-analysis suggests that hearing impairment significantly increases the risk of cognitive disorders and future well-designed prospective cohort studies are awaited to confirm the association between hearing impairment and risk of Alzheimer's disease.

  6. Spatial analysis of the relationship between mortality from cardiovascular and cerebrovascular disease and drinking water hardness.

    Science.gov (United States)

    Ferrandiz, Juan; Abellan, Juan J; Gomez-Rubio, Virgilio; Lopez-Quilez, Antonio; Sanmartin, Pilar; Abellan, Carlos; Martinez-Beneito, Miguel A; Melchor, Inmaculada; Vanaclocha, Hermelinda; Zurriaga, Oscar; Ballester, Ferran; Gil, Jose M; Perez-Hoyos, Santiago; Ocana, Ricardo

    2004-06-01

    Previously published scientific papers have reported a negative correlation between drinking water hardness and cardiovascular mortality. Some ecologic and case-control studies suggest the protective effect of calcium and magnesium concentration in drinking water. In this article we present an analysis of this protective relationship in 538 municipalities of Comunidad Valenciana (Spain) from 1991-1998. We used the Spanish version of the Rapid Inquiry Facility (RIF) developed under the European Environment and Health Information System (EUROHEIS) research project. The strategy of analysis used in our study conforms to the exploratory nature of the RIF that is used as a tool to obtain quick and flexible insight into epidemiologic surveillance problems. This article describes the use of the RIF to explore possible associations between disease indicators and environmental factors. We used exposure analysis to assess the effect of both protective factors--calcium and magnesium--on mortality from cerebrovascular (ICD-9 430-438) and ischemic heart (ICD-9 410-414) diseases. This study provides statistical evidence of the relationship between mortality from cardiovascular diseases and hardness of drinking water. This relationship is stronger in cerebrovascular disease than in ischemic heart disease, is more pronounced for women than for men, and is more apparent with magnesium than with calcium concentration levels. Nevertheless, the protective nature of these two factors is not clearly established. Our results suggest the possibility of protectiveness but cannot be claimed as conclusive. The weak effects of these covariates make it difficult to separate them from the influence of socioeconomic and environmental factors. We have also performed disease mapping of standardized mortality ratios to detect clusters of municipalities with high risk. Further standardization by levels of calcium and magnesium in drinking water shows changes in the maps when we remove the effect of

  7. Physiotherapy intervention in Parkinson’s disease: systematic review and meta-analysis

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    Patel, Smitaa; Meek, Charmaine; Herd, Clare P; Clarke, Carl E; Stowe, Rebecca; Shah, Laila; Sackley, Catherine; Deane, Katherine H O; Wheatley, Keith; Ives, Natalie

    2012-01-01

    Objective To assess the effectiveness of physiotherapy compared with no intervention in patients with Parkinson’s disease. Design Systematic review and meta-analysis of randomised controlled trials. Data sources Literature databases, trial registries, journals, abstract books, and conference proceedings, and reference lists, searched up to the end of January 2012. Review methods Randomised controlled trials comparing physiotherapy with no intervention in patients with Parkinson’s disease were eligible. Two authors independently abstracted data from each trial. Standard meta-analysis methods were used to assess the effectiveness of physiotherapy compared with no intervention. Tests for heterogeneity were used to assess for differences in treatment effect across different physiotherapy interventions used. Outcome measures were gait, functional mobility and balance, falls, clinician rated impairment and disability measures, patient rated quality of life, adverse events, compliance, and economic analysis outcomes. Results 39 trials of 1827 participants met the inclusion criteria, of which 29 trials provided data for the meta-analyses. Significant benefit from physiotherapy was reported for nine of 18 outcomes assessed. Outcomes which may be clinically significant were speed (0.04 m/s, 95% confidence interval 0.02 to 0.06, Pphysiotherapy interventions found no evidence that the treatment effect differed across the interventions for any outcomes assessed, apart from motor subscores on the unified Parkinson’s disease rating scale (in which one trial was found to be the cause of the heterogeneity). Conclusions Physiotherapy has short term benefits in Parkinson’s disease. A wide range of physiotherapy techniques are currently used to treat Parkinson’s disease, with little difference in treatment effects. Large, well designed, randomised controlled trials with improved methodology and reporting are needed to assess the efficacy and cost effectiveness of

  8. Meta-analysis: Association of Helicobacter pylori infection with Parkinson's diseases.

    Science.gov (United States)

    Shen, Xiaoli; Yang, Huazhen; Wu, Yili; Zhang, Dongfeng; Jiang, Hong

    2017-10-01

    The results from observational studies on the relationship between helicobacter pylori (H. pylori) infection and Parkinson's disease remain controversial. A meta-analysis was conducted to evaluate the association between helicobacter pylori infection and Parkinson's disease. A comprehensive literature search was performed on relevant studies published from January 1983 to January 2017 in PubMed, Web of Science and EMBASE databases. The fixed or random effects model was used to pool the odds ratio with 95% confidence interval from individual studies. Publication bias was estimated by Egger's test and the funnel plot. Eight eligible studies involving 33 125 participants were included in this meta-analysis. Compared with the no helicobacter pylori infected person, the pooled odds ratio of Parkinson's disease in helicobacter pylori infected person was 1.59 (95% confidence interval: 1.37-1.85). In subgroup analyzes, the combined odds ratios were 1.96 (1.23-3.12) in Asia, 1.55 (1.32-1.82) in Europe, 1.59 (1.35-1.88) in case-control studies, 1.56 (1.01-2.39) in cross-sectional studies, 1.56 (1.32-1.85) in studies with confounders adjusted, and 1.71 (1.21-2.43) in studies with no confounder adjusted, respectively. This meta-analysis indicated that H. pylori infection might be associated with the risk of Parkinson's disease. © 2017 John Wiley & Sons Ltd.

  9. Analysis of Newcastle disease virus quasispecies and factors affecting the emergence of virulent virus.

    Science.gov (United States)

    Kattenbelt, Jacqueline A; Stevens, Matthew P; Selleck, Paul W; Gould, Allan R

    2010-10-01

    Genome sequence analysis of a number of avirulent field isolates of Newcastle disease virus revealed the presence of viruses (within their quasispecies) that contained virulent F0 sequences. Detection of these virulent sequences below the ~1% level, using standard cloning and sequence analysis, proved difficult, and thus a more sensitive reverse-transcription real-time PCR procedure was developed to detect both virulent and avirulent NDV F0 sequences. Reverse-transcription real-time PCR analysis of the quasispecies of a number of Newcastle disease virus field isolates, revealed variable ratios (approximately 1:4-1:4,000) of virulent to avirulent viral F0 sequences. Since the ratios of these sequences generally remained constant in the quasispecies population during replication, factors that could affect the balance of virulent to avirulent sequences during viral infection of birds were investigated. It was shown both in vitro and in vivo that virulent virus present in the quasispecies did not emerge from the "avirulent background" unless a direct selection pressure was placed on the quasispecies, either by growth conditions or by transient immunosuppression. The effect of a prior infection of the host by infectious bronchitis virus or infectious bursal disease virus on the subsequent emergence of virulent Newcastle disease virus was examined.

  10. Sensitivity analysis of the relationship between disease occurrence and distance from a putative source of pollution

    Directory of Open Access Journals (Sweden)

    Emanuela Dreassi

    2008-05-01

    Full Text Available The relation between disease risk and a point source of pollution is usually investigated using distance from the source as a proxy of exposure. The analysis may be based on case-control data or on aggregated data. The definition of the function relating risk of disease and distance is critical, both in a classical and in a Bayesian framework, because the likelihood is usually very flat, even with large amounts of data. In this paper we investigate how the specification of the function relating risk of disease with distance from the source and of the prior distributions on the parameters of the function affects the results when case-control data and Bayesian methods are used. We consider different popular parametric models for the risk distance function in a Bayesian approach, comparing estimates with those derived by maximum likelihood. As an example we have analyzed the relationship between a putative source of environmental pollution (an asbestos cement plant and the occurrence of pleural malignant mesothelioma in the area of Casale Monferrato (Italy in 1987-1993. Risk of pleural malignant mesothelioma turns out to be strongly related to distance from the asbestos cement plant. However, as the models appeared to be sensitive to modeling choices, we suggest that any analysis of disease risk around a putative source should be integrated with a careful sensitivity analysis and possibly with prior knowledge. The choice of prior distribution is extremely important and should be based on epidemiological considerations.

  11. [Hot research topics on cardiovascular diseases in occupational population: a bibliometric analysis].

    Science.gov (United States)

    Zheng, P; Li, C Y; Hu, G P; Jia, G

    2016-10-20

    Objective: To investigate the literature characteristics and research topics on cardiovascular diseases in the occupational population quantitatively via a bibliometric analysis, and to provide a reference for the selection of research directions. Methods: A search strategy was developed according to the words in Medical Subject Heading (MeSH) , and PubMed database was searched for articles on cardiovascular diseases in the occupational population published from 2006 to 2015. The information of published year, authors, journals, and MeSH words was extracted, frequently used MeSH words were screened out, and a cluster analysis was performed for frequently used MeSH words. Results: A total of 1 272 articles were found, and about 150 articles were published annually from 2011 to 2015. Most articles were published in Occupational and Environmental Medicine, and the author Tohr Nilsson had the highest number of published articles. The influencing factors mainly included occupational mental stress, smoking, and working system, and the health outcomes attracting the most attention were hypertension, hand-arm vibration, ischemic heart disease, and myocardial infarction. The articles were clustered into 5 types, and 5 hot topics were summarized. Conclusion: The bibliometric analysis of cardiovascular diseases in occupational population shows that hypertension and hand-arm vibration are hot research topics, which can provide a reference to researchers.

  12. Collaborative analysis of alpha-synuclein gene promoter variability and Parkinson disease.

    Science.gov (United States)

    Maraganore, Demetrius M; de Andrade, Mariza; Elbaz, Alexis; Farrer, Matthew J; Ioannidis, John P; Krüger, Rejko; Rocca, Walter A; Schneider, Nicole K; Lesnick, Timothy G; Lincoln, Sarah J; Hulihan, Mary M; Aasly, Jan O; Ashizawa, Tetsuo; Chartier-Harlin, Marie-Christine; Checkoway, Harvey; Ferrarese, Carlo; Hadjigeorgiou, Georgios; Hattori, Nobutaka; Kawakami, Hideshi; Lambert, Jean-Charles; Lynch, Timothy; Mellick, George D; Papapetropoulos, Spiridon; Parsian, Abbas; Quattrone, Aldo; Riess, Olaf; Tan, Eng-King; Van Broeckhoven, Christine

    2006-08-09

    Identification and replication of susceptibility genes for Parkinson disease at the population level have been hampered by small studies with potential biases. Alpha-synuclein (SNCA) has been one of the most promising susceptibility genes, but large-scale studies have been lacking. To determine whether allele-length variability in the dinucleotide repeat sequence (REP1) of the SNCA gene promoter is associated with Parkinson disease susceptibility, whether SNCA promoter haplotypes are associated with Parkinson disease, and whether REP1 variability modifies age at onset. We performed a collaborative analysis of individual-level data on SNCA REP1 and flanking markers in patients with Parkinson disease and controls. Study site recruitment, data collection, and analyses were performed between April 5, 2004, and December 31, 2005. Eighteen participating sites of a global genetics consortium provided clinical data. Genotyping was performed for SNCA REP1, -770, and -116 markers at individual sites; however, each site also provided 20 DNA samples for regenotyping centrally. Measures included estimations of Hardy-Weinberg equilibrium in controls; a test of heterogeneity; analyses for association of single variants or haplotypes; and survival analyses for age at onset. Of the 18 sites, 11 met stringent criteria for concordance with Hardy-Weinberg equilibrium and low genotyping error rate. These 11 sites provided complete data for 2692 cases and 2652 controls. There was no heterogeneity across studies (P>.60). The SNCA REP1 alleles differed in frequency for cases and controls (PParkinson disease (odds ratio, 1.43; 95% confidence interval, 1.22-1.69; PParkinson disease only when they included REP1 as one of the loci. However, genotypes defined by REP1 alleles did not modify age at onset (P = .55). This large-scale collaborative analysis demonstrates that SNCA REP1 allele-length variability is associated with an increased risk of Parkinson disease.

  13. Metabolic patterns in prion diseases: an FDG PET voxel-based analysis

    Energy Technology Data Exchange (ETDEWEB)

    Prieto, Elena; Dominguez-Prado, Ines; Jesus Ribelles, Maria; Arbizu, Javier [Clinica Universidad de Navarra, Nuclear Medicine Department, Pamplona (Spain); Riverol, Mario; Ortega-Cubero, Sara; Rosario Luquin, Maria; Castro, Purificacion de [Clinica Universidad de Navarra, Neurology Department, Pamplona (Spain)

    2015-09-15

    Clinical diagnosis of human prion diseases can be challenging since symptoms are common to other disorders associated with rapidly progressive dementia. In this context, {sup 18}F-fluorodeoxyglucose (FDG) positron emission tomography (PET) might be a useful complementary tool. The aim of this study was to determine the metabolic pattern in human prion diseases, particularly sporadic Creutzfeldt-Jakob disease (sCJD), the new variant of Creutzfeldt-Jakob disease (vCJD) and fatal familial insomnia (FFI). We retrospectively studied 17 patients with a definitive, probable or possible prion disease who underwent FDG PET in our institution. Of these patients, 12 were diagnosed as sCJD (9 definitive, 2 probable and 1 possible), 1 was diagnosed as definitive vCJD and 4 were diagnosed as definitive FFI. The hypometabolic pattern of each individual and comparisons across the groups of subjects (control subjects, sCJD and FFI) were evaluated using a voxel-based analysis. The sCJD group exhibited a pattern of hypometabolism that affected both subcortical (bilateral caudate, thalamus) and cortical (frontal cortex) structures, while the FFI group only presented a slight hypometabolism in the thalamus. Individual analysis demonstrated a considerable variability of metabolic patterns among patients, with the thalamus and basal ganglia the most frequently affected areas, combined in some cases with frontal and temporal hypometabolism. Patients with a prion disease exhibit a characteristic pattern of brain metabolism presentation in FDG PET imaging. Consequently, in patients with rapidly progressive cognitive impairment, the detection of these patterns in the FDG PET study could orient the diagnosis to a prion disease. (orig.)

  14. Quantitative analysis of patients with celiac disease by video capsule endoscopy: A deep learning method.

    Science.gov (United States)

    Zhou, Teng; Han, Guoqiang; Li, Bing Nan; Lin, Zhizhe; Ciaccio, Edward J; Green, Peter H; Qin, Jing

    2017-06-01

    Celiac disease is one of the most common diseases in the world. Capsule endoscopy is an alternative way to visualize the entire small intestine without invasiveness to the patient. It is useful to characterize celiac disease, but hours are need to manually analyze the retrospective data of a single patient. Computer-aided quantitative analysis by a deep learning method helps in alleviating the workload during analysis of the retrospective videos. Capsule endoscopy clips from 6 celiac disease patients and 5 controls were preprocessed for training. The frames with a large field of opaque extraluminal fluid or air bubbles were removed automatically by using a pre-selection algorithm. Then the frames were cropped and the intensity was corrected prior to frame rotation in the proposed new method. The GoogLeNet is trained with these frames. Then, the clips of capsule endoscopy from 5 additional celiac disease patients and 5 additional control patients are used for testing. The trained GoogLeNet was able to distinguish the frames from capsule endoscopy clips of celiac disease patients vs controls. Quantitative measurement with evaluation of the confidence was developed to assess the severity level of pathology in the subjects. Relying on the evaluation confidence, the GoogLeNet achieved 100% sensitivity and specificity for the testing set. The t-test confirmed the evaluation confidence is significant to distinguish celiac disease patients from controls. Furthermore, it is found that the evaluation confidence may also relate to the severity level of small bowel mucosal lesions. A deep convolutional neural network was established for quantitative measurement of the existence and degree of pathology throughout the small intestine, which may improve computer-aided clinical techniques to assess mucosal atrophy and other etiologies in real-time with videocapsule endoscopy. Copyright © 2017 Elsevier Ltd. All rights reserved.

  15. Association between Psoriasis and Chronic Obstructive Pulmonary Disease: A Systematic Review and Meta-analysis.

    Directory of Open Access Journals (Sweden)

    Xin Li

    Full Text Available Psoriasis is considered a systemic inflammatory disorder. Previous studies have reported conflicting positive or negative correlations between psoriasis and chronic obstructive pulmonary disease. We performed a meta-analysis to determine whether there is an associated risk between psoriasis and chronic obstructive pulmonary disease. We performed a complete 30-year literature search of MEDLINE, Embase, and Cochrane Central Register databases on this topic. Four observational studies with a total of 13,418 subjects were identified. The odds ratios of chronic obstructive pulmonary disease in subjects with psoriasis/mild-to-moderate psoriasis were analyzed using the random-effects model, while the odds ratios of chronic obstructive pulmonary disease in subjects with severe psoriasis and current smoking in subjects with psoriasis were analyzed using the fixed-effect model. We found that psoriasis patients were at a greater risk of developing chronic obstructive pulmonary disease than the general population (odds ratio, 1.90; 95% confidence interval, 1.36-2.65 and that the association between of psoriasis and with chronic obstructive pulmonary disease was stronger among patients with severe psoriasis (odds ratio, 2.15; 95% confidence interval, 1.26-3.67. Psoriasis patients should be advised to cease smoking to reduce their risk of COPD. Moreover, identification of this potential risk may enable earlier implementation of preventive measures for reduction comorbidity and mortality rates.

  16. Stability and Sensitivity Analysis of a Plant Disease Model with Continuous Cultural Control Strategy

    Directory of Open Access Journals (Sweden)

    Zhang Zhonghua

    2014-01-01

    Full Text Available In this paper, a plant disease model with continuous cultural control strategy and time delay is formulated. Then, how the time delay affects the overall disease progression and, mathematically, how the delay affects the dynamics of the model are investigated. By analyzing the transendental characteristic equation, stability conditions related to the time delay are derived for the disease-free equilibrium. Specially, when R0=1, the Jacobi matrix of the model at the disease-free equilibrium always has a simple zero eigenvalue for all τ≥0. The center manifold reduction and the normal form theory are used to discuss the stability and the steady-state bifurcations of the model near the nonhyperbolic disease-free equilibrium. Then, the sensitivity analysis of the threshold parameter R0 and the positive equilibrium E* is carried out in order to determine the relative importance of different factors responsible for disease transmission. Finally, numerical simulations are employed to support the qualitative results.

  17. Detection of heart disease by open access echocardiography: a retrospective analysis of general practice referrals.

    Science.gov (United States)

    Chambers, John; Kabir, Saleha; Cajeat, Eric

    2014-02-01

    Heart disease is difficult to detect clinically and it has been suggested that echocardiography should be available to all patients with possible cardiac symptoms or signs. To analyse the results of 2 years of open access echocardiography for the frequency of structural heart disease according to request. Retrospective database analysis in a teaching hospital open access echocardiography service. Reports of all open access transthoracic echocardiograms between January 2011 and December 2012 were categorised as normal, having minor abnormalities, or significant abnormalities according to the indication. There were 2343 open access echocardiograms performed and there were significant abnormalities in 29%, predominantly valve disease (n = 304, 13%), LV systolic dysfunction (n = 179, 8%), aortic dilatation (n = 80, 3%), or pulmonary hypertension (n = 91, 4%). If echocardiography had been targeted at a high-risk group, 267 with valve disease would have been detected (compared to 127 with murmur alone) and 139 with LV systolic dysfunction (compared to 91 with suspected heart failure alone). Most GP practices requested fewer than 10 studies, but 6 practices requested over 70 studies. Open access echocardiograms are often abnormal but structural disease may not be suspected from the clinical request. Uptake by individual practices is patchy. A targeted expansion of echocardiography in patients with a high likelihood of disease is therefore likely to increase the detection of clinically important pathology.

  18. Brain stem and cerebellum volumetric analysis of Machado Joseph disease patients

    Directory of Open Access Journals (Sweden)

    S T Camargos

    2011-01-01

    Full Text Available Machado-Joseph disease, or spinocerebellar ataxia type 3(MJD/SCA3, is the most frequent late onset spinocerebellar ataxia and results from a CAG repeat expansion in the ataxin-3 gene. Previous studies have found correlation between atrophy of cerebellum and brainstem with age and CAG repeats, although no such correlation has been found with disease duration and clinical manifestations. In this study we test the hypothesis that atrophy of cerebellum and brainstem in MJD/SCA3 is related to clinical severity, disease duration and CAG repeat length as well as to other variables such as age and ICARS (International Cooperative Ataxia Rating Scale. Whole brain high resolution MRI and volumetric measurement with cranial volume normalization were obtained from 15 MJD/SCA3 patients and 15 normal, age and sex-matchedcontrols. We applied ICARS and compared the score with volumes and CAG number, disease duration and age. We found significant correlation of both brain stem and cerebellar atrophy with CAG repeat length, age, disease duration and degree of disability. The Spearman rank correlation was stronger with volumetric reduction of the cerebellum than with brain stem. Our data allow us to conclude that volumetric analysis might reveal progressive degeneration after disease onset, which in turn is linked to both age and number of CAG repeat expansions in SCA 3.

  19. Several Indicators of Critical Transitions for Complex Diseases Based on Stochastic Analysis.

    Science.gov (United States)

    Wang, Gang; Li, Yuanyuan; Zou, Xiufen

    2017-01-01

    Many complex diseases (chronic disease onset, development and differentiation, self-assembly, etc.) are reminiscent of phase transitions in a dynamical system: quantitative changes accumulate largely unnoticed until a critical threshold is reached, which causes abrupt qualitative changes of the system. Understanding such nonlinear behaviors is critical to dissect the multiple genetic/environmental factors that together shape the genetic and physiological landscape underlying basic biological functions and to identify the key driving molecules. Based on stochastic differential equation (SDE) model, we theoretically derive three statistical indicators, that is, coefficient of variation (CV), transformed Pearson's correlation coefficient (TPC), and transformed probability distribution (TPD), to identify critical transitions and detect the early-warning signals of the phase transition in complex diseases. To verify the effectiveness of these early-warning indexes, we use high-throughput data for three complex diseases, including influenza caused by either H3N2 or H1N1 and acute lung injury, to extract the dynamical network biomarkers (DNBs) responsible for catastrophic transition into the disease state from predisease state. The numerical results indicate that the derived indicators provide a data-based quantitative analysis for early-warning signals for critical transitions in complex diseases or other dynamical systems.

  20. Phylogenetic analysis of Newcastle disease viruses isolated from commercial poultry in Mozambique (2011-2016).

    Science.gov (United States)

    Mapaco, Lourenço P; Monjane, Iolanda V A; Nhamusso, Antonieta E; Viljoen, Gerrit J; Dundon, William G; Achá, Sara J

    2016-10-01

    The complete sequence of the fusion (F) protein gene from 11 Newcastle disease viruses (NDVs) isolated from commercial poultry in Mozambique between 2011 and 2016 has been generated. The F gene cleavage site motif for all 11 isolates was (112)RRRKRF(117) indicating that the viruses are virulent. A phylogenetic analysis using the full F gene sequence revealed that the viruses clustered within genotype VIIh and showed a higher similarity to NDVs from South Africa, China and Southeast Asia than to viruses previously described in Mozambique in 1994, 1995 and 2005. The identification of these new NDVs has important implications for Newcastle disease management and control in Mozambique.

  1. Genetic polymorphism of MMP family and coronary disease susceptibility: a meta-analysis.

    Science.gov (United States)

    Li, Min; Shi, Jingpu; Fu, Lingyu; Wang, Hailong; Zhou, Bo; Wu, Xiaomei

    2012-03-01

    The issue that genetic polymorphism of matrix metalloproteinase (MMP) family is in association with coronary disease is controversial. So we did a meta-analysis to clarify it clearly. We made a literature search of PubMed, the Web of Science, and Cochrane Collaboration's database to identify eligible reports. The methodological quality of each included studies was assessed. We calculated the pooled ORs with their 95%CI for each genetic polymorphism in STATA 11 software. Separate analysis was performed to address the consistency of results across the subgroup with different continents. A total of 39 studies were included, with a sample of 42269 individuals. This meta-analysis provided evidence that genetic polymorphism of MMP1-1607 1G/2G, MMP3-Gly45lys, MMP3-376 G/C, MMP3-1171 5A/6A, MMP9-1562 C/T and MMP9-R279Q have a small to medium effect on incidence of coronary disease. There was no evidence that MMP1-519 A/G, MMP1-340 T/C and MMP2-1306 C/T polymorphism could increase risk of coronary disease. Results from subgroup analysis supported a relation between MMP3-1711 5A allele, MMP9-1562 C allele and coronary disease especially in Asian population. The results provide moderate association between the six common genetic polymorphism of matrix metalloproteinase family and coronary disease. However, the challenge for researcher is identifying separate effect on different races.

  2. Meta-analysis of Ginkgo biloba extract for the treatment of Alzheimer's disease

    Institute of Scientific and Technical Information of China (English)

    Zheng Yang; Wenjie Li; Tao Huang; Jianmin Chen; Xiao Zhang

    2011-01-01

    OBJECTIVE:To evaluate the effect of Ginkgo biloba extract on Alzheimer's disease using meta-analysis.DATA SOURCES:The following sources were used for articles concerning Ginkgo biloba extract for the treatment of Alzheimer's disease:Western biomedical journal literature databases,Chinese Biomedical Literature Database,Chinese Journal Full-text Database,Chinese Science and Technology Journal Full-text database.DATA SELECTION:Randomized controlled trials addressing Ginkgo biloba extract for the treatment of Alzheimer's disease were selected.The pathway and method of information collection were identical between treatment and control groups.Mild and moderate Alzheimer's disease patients scoring ≤ 26 points on the mini-mental state examination were included.Subjects met the diagnostic criteria for dementia by the American Psychiatric Association's "Diagnostic and Statistical Manual of Mental Disorders" Fourth revised edition.The quality of included literature was assessed by two authors.Meta-analysis was performed by RevMan4.2 software which was provided by the Cochrane Collaboration.Heterogeneity,sensitivity analysis,and bias evaluation were conducted.MAIN OUTCOME MEASURES:Scores of mini-mental state examination,ADAS-cog,and Syndrom-Kurztest.RESULTS:The five included randomized controlled trials contained 819 patients.Meta-analysis showed that the Syndrom-Kurztest score was significantly decreased (weighted mean difference = -2.32;95%CI = -3.12,-1.52;P<0.01) compared with the control group.No significant difference was found in the mini-mental state examination and ADAS-cog score (P>.05).However,there was a tendency to elevate mini-mental state examination score and to reduce the ADAS-cog score.CONCLUSION:Ginkgo biloba extract shows good therapeutic effects for mild and moderate Alzheimer's disease.However,high-quality,randomized,double-blind,and controlled trials are needed to further confirm its therapeutic effects.

  3. Association between MASP-2 gene polymorphism and risk of infection diseases: A meta-analysis.

    Science.gov (United States)

    Fu, Jie; Wang, Jingqiu; Luo, Yanping; Zhang, Lifeng; Zhang, Yuan; Dong, Xinfang; Yu, Hongjuan; Cao, Mingqiang; Ma, Xingming

    2016-11-01

    The role of MASP-2 is vital in the process of complement activation by the lectin pathway. It is generally considered that the functional activation of MASP-2 contribute to the infection disease development process. To analyze the association between MASP-2 functional gene (rs72550870) polymorphism and the infection disease risk by a meta-analysis. Relevant case-control studies were identified by searching Cochrane Library, PubMed, Emabase, DOAJ, CAB Abstracts, CSA, CINAHL, EBSCO, Scopus, Global Health, Index Copernicus, CA, China National Knowledge Infrastructure (CNKI) databases up to 10th January 2016. The data were extracted and the methodological quality of studies were evaluated. The STATA 12.0 software was used to perform statistical analysis. 9 studies were included. There was no significant association between masp-2 gene (p.D120G, rs72550870) polymorphism and the risk of infection disease under the allele model (G vs. A: OR = 0.89, 95%CI = 0.66-1.21)(P = 0.445>0.05) and the recessive model (AG + GG vs.AA: OR = 0.88, 95%CI = 0.65-1.20) (P = 0.428>0.05). This is the first comprehensive meta-analysis indicates that the MASP-2 functional gene (rs72550870) polymorphism is not associated with the infection diseases, and the key functional gene polymorphism of rs72550870 did not increase susceptibility to the infection diseases. Similarly, there were no obvious difference in subgroup analysis based on geographical areas and pathogenic microorganisms. Copyright © 2016 Elsevier Ltd. All rights reserved.

  4. [Risk factors analysis of cardiovascular diseases. Is the Life Style Assessment useful?].

    Science.gov (United States)

    Bye, A

    1997-08-10

    The Norwegian Medical Association's Health Control Handbook (1993) has introduced a lifestyle risk analysis-a paper-based way of assessing risk factors for cardiovascular disease and transferring them into pedagogic risk scores. By using the lifestyle risk analysis in our data based risk profile system LIVDA, we compared and evaluated the two systems through 437 consultations at our Occupational Health Clinic. The lifestyle risk analysis is a pedagogic tool, as compared with the unsystematic clinical information recorded in journals. We found only small differences between the lifestyle risk analysis and LIVDA, except when assessing total cholesterol and physical exercise. Lifestyle risk analysis does not, however, allow categorisation of risk factor values without adjustments, and does not include all relevant risk factors. Further, there are no possibilities of measuring motivation, or for selecting patients for group intervention.

  5. A comparison of ordinal regression models in an analysis of factors associated with periodontal disease

    Directory of Open Access Journals (Sweden)

    Javali Shivalingappa

    2010-01-01

    Full Text Available Aim: The study aimed to determine the factors associated with periodontal disease (different levels of severity by using different regression models for ordinal data. Design: A cross-sectional design was employed using clinical examination and ′questionnaire with interview′ method. Materials and Methods: The study was conducted during June 2008 to October 2008 in Dharwad, Karnataka, India. It involved a systematic random sample of 1760 individuals aged 18-40 years. The periodontal disease examination was conducted by using Community Periodontal Index for Treatment Needs (CPITN. Statistical Analysis Used: Regression models for ordinal data with different built-in link functions were used in determination of factors associated with periodontal disease. Results: The study findings indicated that, the ordinal regression models with four built-in link functions (logit, probit, Clog-log and nlog-log displayed similar results with negligible differences in significant factors associated with periodontal disease. The factors such as religion, caste, sources of drinking water, Timings for sweet consumption, Timings for cleaning or brushing the teeth and materials used for brushing teeth were significantly associated with periodontal disease in all ordinal models. Conclusions: The ordinal regression model with Clog-log is a better fit in determination of significant factors associated with periodontal disease as compared to models with logit, probit and nlog-log built-in link functions. The factors such as caste and time for sweet consumption are negatively associated with periodontal disease. But religion, sources of drinking water, Timings for cleaning or brushing the teeth and materials used for brushing teeth are significantly and positively associated with periodontal disease.

  6. Survival analysis: a tool in the study of post-harvest diseases in peaches

    Directory of Open Access Journals (Sweden)

    Cristiano Nunes Nesi

    2015-02-01

    Full Text Available Survival analysis is applied when the time until the occurrence of an event is of interest. Such data are routinely collected in plant diseases, although applications of the method are uncommon. The objective of this study was to use two studies on post-harvest diseases of peaches, considering two harvests together and the existence of random effect shared by fruits of a same tree, in order to describe the main techniques in survival analysis. The nonparametric Kaplan-Meier method, the log-rank test and the semi-parametric Cox's proportional hazards model were used to estimate the effect of cultivars and the number of days after full bloom on the survival to the brown rot symptom and the instantaneous risk of expressing it in two consecutive harvests. The joint analysis with baseline effect, varying between harvests, and the confirmation of the tree effect as a grouping factor with random effect were appropriate to interpret the phenomenon (disease evaluated and can be important tools to replace or complement the conventional analysis, respecting the nature of the variable and the phenomenon.

  7. Characterizing Alzheimer's disease severity via resting-awake EEG amplitude modulation analysis.

    Directory of Open Access Journals (Sweden)

    Francisco J Fraga

    Full Text Available Changes in electroencephalography (EEG amplitude modulations have recently been linked with early-stage Alzheimer's disease (AD. Existing tools available to perform such analysis (e.g., detrended fluctuation analysis, however, provide limited gains in discriminability power over traditional spectral based EEG analysis. In this paper, we explore the use of an innovative EEG amplitude modulation analysis technique based on spectro-temporal signal processing. More specifically, full-band EEG signals are first decomposed into the five well-known frequency bands and the envelopes are then extracted via a Hilbert transform. Each of the five envelopes are further decomposed into four so-called modulation bands, which were chosen to coincide with the delta, theta, alpha and beta frequency bands. Experiments on a resting-awake EEG dataset collected from 76 participants (27 healthy controls, 27 diagnosed with mild-AD, and 22 with moderate-AD showed significant differences in amplitude modulations between the three groups. Most notably, i delta modulation of the beta frequency band disappeared with an increase in disease severity (from mild to moderate AD, ii delta modulation of the theta band appeared with an increase in severity, and iii delta modulation of the beta frequency band showed to be a reliable discriminant feature between healthy controls and mild-AD patients. Taken together, it is hoped that the developed tool can be used to assist clinicians not only with early detection of Alzheimer's disease, but also to monitor its progression.

  8. Meta analysis of whole-genome linkage scans with data uncertainty: an application to Parkinson's disease

    Directory of Open Access Journals (Sweden)

    Gasser Thomas

    2007-07-01

    Full Text Available Abstract Background Genome wide linkage scans have often been successful in the identification of genetic regions containing susceptibility genes for a disease. Meta analysis is used to synthesize information and can even deliver evidence for findings missed by original studies. If researchers are not contributing their data, extracting valid information from publications is technically challenging, but worth the effort. We propose an approach to include data extracted from published figures of genome wide linkage scans. The validity of the extraction was examined on the basis of those 25 markers, for which sufficient information was reported. Monte Carlo simulations were used to take into account the uncertainty in marker position and in linkage test statistic. For the final meta analysis we compared the Genome Search Meta Analysis method (GSMA and the Corrected p-value Meta analysis Method (CPMM. An application to Parkinson's disease is given. Because we had to use secondary data a meta analysis based on original summary values would be desirable. Results Data uncertainty by replicated extraction of marker position is shown to be much smaller than 30 cM, a distance up to which a maximum LOD score may usually be found away from the true locus. The main findings are not impaired by data uncertainty. Conclusion Applying the proposed method a novel linked region for Parkinson's disease was identified on chromosome 14 (p = 0.036. Comparing the two meta analysis methods we found in this analysis more regions of interest being identified by GSMA, whereas CPMM provides stronger evidence for linkage. For further validation of the extraction method comparisons with raw data would be required.

  9. Meta analysis of whole-genome linkage scans with data uncertainty: an application to Parkinson's disease

    Science.gov (United States)

    Rosenberger, Albert; Sharma, Manu; Müller-Myhsok, Bertram; Gasser, Thomas; Bickeböller, Heike

    2007-01-01

    Background Genome wide linkage scans have often been successful in the identification of genetic regions containing susceptibility genes for a disease. Meta analysis is used to synthesize information and can even deliver evidence for findings missed by original studies. If researchers are not contributing their data, extracting valid information from publications is technically challenging, but worth the effort. We propose an approach to include data extracted from published figures of genome wide linkage scans. The validity of the extraction was examined on the basis of those 25 markers, for which sufficient information was reported. Monte Carlo simulations were used to take into account the uncertainty in marker position and in linkage test statistic. For the final meta analysis we compared the Genome Search Meta Analysis method (GSMA) and the Corrected p-value Meta analysis Method (CPMM). An application to Parkinson's disease is given. Because we had to use secondary data a meta analysis based on original summary values would be desirable. Results Data uncertainty by replicated extraction of marker position is shown to be much smaller than 30 cM, a distance up to which a maximum LOD score may usually be found away from the true locus. The main findings are not impaired by data uncertainty. Conclusion Applying the proposed method a novel linked region for Parkinson's disease was identified on chromosome 14 (p = 0.036). Comparing the two meta analysis methods we found in this analysis more regions of interest being identified by GSMA, whereas CPMM provides stronger evidence for linkage. For further validation of the extraction method comparisons with raw data would be required. PMID:17605797

  10. Cerebrospinal fluid analysis in infectious diseases of the nervous system: when to ask, what to ask, what to expect

    Directory of Open Access Journals (Sweden)

    Luis dos Ramos Machado

    2013-09-01

    Full Text Available Cerebrospinal fluid (CSF analysis very frequently makes the difference to the diagnosis, not only in relation to infections but also in other diseases of the nervous system such as inflammatory, demyelinating, neoplastic and degenerative diseases. The authors review some practical and important features of CSF analysis in infectious diseases of the nervous system, with regard to acute bacterial meningitis, herpetic meningoencephalitis, neurotuberculosis, neurocryptococcosis, neurocysticercosis and neurosyphilis.

  11. Stability Analysis of an Infectious Disease Free Equilibrium of Hepatitis B Model

    Directory of Open Access Journals (Sweden)

    A.A. Momoh

    2011-09-01

    Full Text Available In this research study, we proposed an (M-S-E-I-R model to understand the transmission dynamics and control of HBV taking into consideration passive immunisation, treatment of exposed individuals at latent period and infectious Hepatitis B treatment. We established the disease free equilibrium state and epidemic equilibrium state of the model. Stability analysis was carried out on the disease free equilibrium state and it was found that λ1 = -μ, λ2 = -μ, λ3 = -(ε+μ, λ4 = -(γ+μ and λ5 = δB/μ -μ hence the disease free equilibrium is stable if δB/μ is less than μ (where δB/μ is number of susceptible individuals produced.

  12. Statistical Analysis of Risk Factors for Cardiovascular disease in Malakand Division

    Directory of Open Access Journals (Sweden)

    Salahud Din

    2006-01-01

    Full Text Available Several studies have been conducted to investigate the incidence of cardiovascular disease and to determine the possible risk factors for the disease. In this study, a Statistical method of odds ratio analysis was performed to look at the association of one of the type of cardiovascular disease known as myocardial infarction with various risk factors such as diabetes, cholesterol, hypertension, sex, smoking, obesity, family history and age in Malakand division. A total of 700 patients were examined and their personal and medical data were collected. For each patient, the phenomenon of myocardial infarction was studied in relation to different risk factors. The analyses suggest that hypertension, smoking, diabetes, cholesterol level and family history were important risk factors for the occurrence of myocardial infarction.

  13. Bayesian analysis of longitudinal Johne's disease diagnostic data without a gold standard test

    DEFF Research Database (Denmark)

    Wang, C.; Turnbull, B.W.; Nielsen, Søren Saxmose

    2011-01-01

    . An application is presented to an analysis of ELISA and fecal culture test outcomes in the diagnostic testing of paratuberculosis (Johne's disease) for a Danish longitudinal study from January 2000 to March 2003. The posterior probability criterion based on the Bayesian model with 4 repeated observations has......A Bayesian methodology was developed based on a latent change-point model to evaluate the performance of milk ELISA and fecal culture tests for longitudinal Johne's disease diagnostic data. The situation of no perfect reference test was considered; that is, no “gold standard.” A change......-point process with a Weibull survival hazard function was used to model the progression of the hidden disease status. The model adjusted for the fixed effects of covariate variables and random effects of subject on the diagnostic testing procedure. Markov chain Monte Carlo methods were used to compute...

  14. Contrasting regional architectures of schizophrenia and other complex diseases using fast variance components analysis

    DEFF Research Database (Denmark)

    Loh, Po-Ru; Bhatia, Gaurav; Gusev, Alexander;

    2015-01-01

    Heritability analyses of genome-wide association study (GWAS) cohorts have yielded important insights into complex disease architecture, and increasing sample sizes hold the promise of further discoveries. Here we analyze the genetic architectures of schizophrenia in 49,806 samples from the PGC...... and nine complex diseases in 54,734 samples from the GERA cohort. For schizophrenia, we infer an overwhelmingly polygenic disease architecture in which ≥71% of 1-Mb genomic regions harbor ≥1 variant influencing schizophrenia risk. We also observe significant enrichment of heritability in GC-rich regions....... To accomplish these analyses, we developed a fast algorithm for multicomponent, multi-trait variance-components analysis that overcomes prior computational barriers that made such analyses intractable at this scale....

  15. A GEOSPATIAL ANALYSIS OF THE RELATIONSHIP BETWEEN ENVIRONMENTAL DRIVERS AND VECTOR-BORNE DISEASES

    Directory of Open Access Journals (Sweden)

    MARIA IOANA VLAD-ȘANDRU

    2015-10-01

    Full Text Available A Geospatial Analysis of the Relationship between Environmental Drivers and Vector-Borne Diseases. Human health is profoundly affected by weather and climate. Environmental health is becoming a major preoccupation on a world-wide scale; there is a close correlation between a population’s state of health and the quality of its environment, considering many infectious diseases are at least partly dependent on environmental factors. When we talk about the environment, we realize that it includes and affects fields of action from our daily life. Earth observation from space, with validation from in situ observations, provide a greater understanding of the environment and enable us to monitor and predict key environmental phenomena and events that can affect our livelihoods and health. Even thought, the use of Earth observation is growing in usefulness for a wide variety of uses, it is extremely unlikely that Earth Observation will be able to detect infectious diseases directly. Instead, Earth observation can be used to detect high NDVI index (and possibly attribute the high surface chlorophyll concentration to a particular disease, and help predict the movement of the agents carrying vector-borne disease. Many diseases need certain temperature and moisture conditions to breed. The primary objective of analyzing environmental health risk and vulnerabilities is to support the Development Regions to strengthen their capacity to assess, visualize and analyze health risks and incorporate the results of this analysis in a health risk map for disaster risk reduction, emergency preparedness and response plans. At the same time, such an analysis applied in health, allows starting the collection and homogenization of baseline data, information and maps to help health authorities and decision makers to take informed decisions in times of crises. Informational Health Platform would be used for the integration of data coming from different sources in order to

  16. Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci

    NARCIS (Netherlands)

    Ellinghaus, David; Jostins, Luke; Spain, Sarah L.; Cortes, Adrian; Bethune, Joern; Han, Buhm; Park, Yu Rang; Raychaudhuri, Soumya; Pouget, Jennie G.; Huebenthal, Matthias; Folseraas, Trine; Wang, Yunpeng; Esko, Tonu; Metspalu, Andres; Westra, Harm-Jan; Franke, Lude; Pers, Tune H.; Weersma, Rinse K.; Collij, Valerie; D'Amato, Mauro; Halfvarson, Jonas; Jensen, Anders Boeck; Lieb, Wolfgang; Degenhardt, Franziska; Forstner, Andreas J.; Hofmann, Andrea; Schreiber, Stefan; Mrowietz, Ulrich; Juran, Brian D.; Lazaridis, Konstantinos N.; Brunak, Soren; Dale, Anders M.; Trembath, Richard C.; Weidinger, Stephan; Weichenthal, Michael; Ellinghaus, Eva; Elder, James T.; Barker, Jonathan N. W. N.; Andreassen, Ole A.; McGovern, Dermot P.; Karlsen, Tom H.; Barrett, Jeffrey C.; Parkes, Miles; Brown, Matthew A.; Franke, Andre

    We simultaneously investigated the genetic landscape of ankylosing spondylitis, Crohn's disease, psoriasis, primary sclerosing cholangitis and ulcerative colitis to investigate pleiotropy and the relationship between these clinically related diseases. Using high-density genotype data from more than

  17. Systematic analysis, comparison, and integration of disease based human genetic association data and mouse genetic phenotypic information

    Directory of Open Access Journals (Sweden)

    Wang S Alex

    2010-01-01

    Full Text Available Abstract Background The genetic contributions to human common disorders and mouse genetic models of disease are complex and often overlapping. In common human diseases, unlike classical Mendelian disorders, genetic factors generally have small effect sizes, are multifactorial, and are highly pleiotropic. Likewise, mouse genetic models of disease often have pleiotropic and overlapping phenotypes. Moreover, phenotypic descriptions in the literature in both human and mouse are often poorly characterized and difficult to compare directly. Methods In this report, human genetic association results from the literature are summarized with regard to replication, disease phenotype, and gene specific results; and organized in the context of a systematic disease ontology. Similarly summarized mouse genetic disease models are organized within the Mammalian Phenotype ontology. Human and mouse disease and phenotype based gene sets are identified. These disease gene sets are then compared individually and in large groups through dendrogram analysis and hierarchical clustering analysis. Results Human disease and mouse phenotype gene sets are shown to group into disease and phenotypically relevant groups at both a coarse and fine level based on gene sharing. Conclusion This analysis provides a systematic and global perspective on the genetics of common human disease as compared to itself and in the context of mouse genetic models of disease.

  18. Prevalence and incidence of Alzheimer's disease in Europe: A meta-analysis.

    Science.gov (United States)

    Niu, H; Álvarez-Álvarez, I; Guillén-Grima, F; Aguinaga-Ontoso, I

    2017-10-01

    A disease of unknown aetiology, Alzheimer's disease (AD) is the most common type of dementia. As the elderly population grows worldwide, the number of patients with AD also increases rapidly. The aim of this meta-analysis is to evaluate the prevalence and incidence of AD in Europe. We conducted a literature search on Medline, Scopus, and CINAHL Complete using the keywords «Alzheimer», «Alzheimer's disease», and «AD» combined with «prevalence», «incidence», and «epidemiology». A Bayesian random effects model with 95% credible intervals was used. The I(2) statistic was applied to assess heterogeneity. The prevalence of Alzheimer's disease in Europe was estimated at 5.05% (95% CI, 4.73-5.39). The prevalence in men was 3.31% (95% CI, 2.85-3.80) and in women, 7.13% (95% CI, 6.56-7.72), and increased with age. The incidence of Alzheimer's disease in Europe was 11.08 per 1000 person-years (95% CI, 10.30-11.89). Broken down by sex, it was 7.02 per 1000 person-years (95% CI, 6.06-8.05) in men and 13.25 per 1000 person-years (95% CI, 12.05-14.51) in women; again these rates increased with age. The results of our meta-analysis allow a better grasp of the impact of this disease in Europe. Copyright © 2016 Sociedad Española de Neurología. Publicado por Elsevier España, S.L.U. All rights reserved.

  19. Differential protein analysis of serum exosomes post-intravenous immunoglobulin therapy in patients with Kawasaki disease.

    Science.gov (United States)

    Zhang, Li; Song, Qi-Fang; Jin, Jing-Jie; Huang, Ping; Wang, Zhou-Ping; Xie, Xiao-Fei; Gu, Xiao-Qiong; Gao, Xue-Juan; Jia, Hong-Ling

    2017-08-14

    Kawasaki disease, which is characterised by systemic vasculitides accompanied by acute fever, is regularly treated by intravenous immunoglobulin to avoid lesion formation in the coronary artery; however, the mechanism of intravenous immunoglobulin therapy is unclear. Hence, we aimed to analyse the global expression profile of serum exosomal proteins before and after administering intravenous immunoglobulin. Two-dimensional electrophoresis coupled with mass spectrometry analysis was used to identify the differentially expressed proteome of serum exosomes in patients with Kawasaki disease before and after intravenous immunoglobulin therapy. Our analysis revealed 69 differential protein spots in the Kawasaki disease group with changes larger than 1.5-fold and 59 differential ones in patients after intravenous immunoglobulin therapy compared with the control group. Gene ontology analysis revealed that the acute-phase response disappeared, the functions of the complement system and innate immune response were enhanced, and the antibacterial humoral response pathway of corticosteroids and cardioprotection emerged after administration of intravenous immunoglobulin. Further, we showed that complement C3 and apolipoprotein A-IV levels increased before and decreased after intravenous immunoglobulin therapy and that the insulin-like growth factor-binding protein complex acid labile subunit displayed reverse alteration before and after intravenous immunoglobulin therapy. These observations might be potential indicators of intravenous immunoglobulin function. Our results show the differential proteomic profile of serum exosomes of patients with Kawasaki disease before and after intravenous immunoglobulin therapy, such as complement C3, apolipoprotein A-IV, and insulin-like growth factor-binding protein complex acid labile subunit. These results may be useful in the identification of markers for monitoring intravenous immunoglobulin therapy in patients with Kawasaki disease.

  20. Genome-wide interaction-based association analysis identified multiple new susceptibility Loci for common diseases.

    Directory of Open Access Journals (Sweden)

    Yang Liu

    2011-03-01

    Full Text Available Genome-wide interaction-based association (GWIBA analysis has the potential to identify novel susceptibility loci. These interaction effects could be missed with the prevailing approaches in genome-wide association studies (GWAS. However, no convincing loci have been discovered exclusively from GWIBA methods, and the intensive computation involved is a major barrier for application. Here, we developed a fast, multi-thread/parallel program named "pair-wise interaction-based association mapping" (PIAM for exhaustive two-locus searches. With this program, we performed a complete GWIBA analysis on seven diseases with stringent control for false positives, and we validated the results for three of these diseases. We identified one pair-wise interaction between a previously identified locus, C1orf106, and one new locus, TEC, that was specific for Crohn's disease, with a Bonferroni corrected P < 0.05 (P = 0.039. This interaction was replicated with a pair of proxy linked loci (P = 0.013 on an independent dataset. Five other interactions had corrected P < 0.5. We identified the allelic effect of a locus close to SLC7A13 for coronary artery disease. This was replicated with a linked locus on an independent dataset (P = 1.09 × 10⁻⁷. Through a local validation analysis that evaluated association signals, rather than locus-based associations, we found that several other regions showed association/interaction signals with nominal P < 0.05. In conclusion, this study demonstrated that the GWIBA approach was successful for identifying novel loci, and the results provide new insights into the genetic architecture of common diseases. In addition, our PIAM program was capable of handling very large GWAS datasets that are likely to be produced in the future.

  1. Processing of CT images for analysis of diffuse lung disease in the lung tissue research consortium

    Science.gov (United States)

    Karwoski, Ronald A.; Bartholmai, Brian; Zavaletta, Vanessa A.; Holmes, David; Robb, Richard A.

    2008-03-01

    The goal of Lung Tissue Resource Consortium (LTRC) is to improve the management of diffuse lung diseases through a better understanding of the biology of Chronic Obstructive Pulmonary Disease (COPD) and fibrotic interstitial lung disease (ILD) including Idiopathic Pulmonary Fibrosis (IPF). Participants are subjected to a battery of tests including tissue biopsies, physiologic testing, clinical history reporting, and CT scanning of the chest. The LTRC is a repository from which investigators can request tissue specimens and test results as well as semi-quantitative radiology reports, pathology reports, and automated quantitative image analysis results from the CT scan data performed by the LTRC core laboratories. The LTRC Radiology Core Laboratory (RCL), in conjunction with the Biomedical Imaging Resource (BIR), has developed novel processing methods for comprehensive characterization of pulmonary processes on volumetric high-resolution CT scans to quantify how these diseases manifest in radiographic images. Specifically, the RCL has implemented a semi-automated method for segmenting the anatomical regions of the lungs and airways. In these anatomic regions, automated quantification of pathologic features of disease including emphysema volumes and tissue classification are performed using both threshold techniques and advanced texture measures to determine the extent and location of emphysema, ground glass opacities, "honeycombing" (HC) and "irregular linear" or "reticular" pulmonary infiltrates and normal lung. Wall thickness measurements of the trachea, and its branches to the 3 rd and limited 4 th order are also computed. The methods for processing, segmentation and quantification are described. The results are reviewed and verified by an expert radiologist following processing and stored in the public LTRC database for use by pulmonary researchers. To date, over 1200 CT scans have been processed by the RCL and the LTRC project is on target for recruitment of the

  2. Linkage Analysis in Autoimmune Addison's Disease: NFATC1 as a Potential Novel Susceptibility Locus.

    Science.gov (United States)

    Mitchell, Anna L; Bøe Wolff, Anette; MacArthur, Katie; Weaver, Jolanta U; Vaidya, Bijay; Erichsen, Martina M; Darlay, Rebecca; Husebye, Eystein S; Cordell, Heather J; Pearce, Simon H S

    2015-01-01

    Autoimmune Addison's disease (AAD) is a rare, highly heritable autoimmune endocrinopathy. It is possible that there may be some highly penetrant variants which confer disease susceptibility that have yet to be discovered. DNA samples from 23 multiplex AAD pedigrees from the UK and Norway (50 cases, 67 controls) were genotyped on the Affymetrix SNP 6.0 array. Linkage analysis was performed using Merlin. EMMAX was used to carry out a genome-wide association analysis comparing the familial AAD cases to 2706 UK WTCCC controls. To explore some of the linkage findings further, a replication study was performed by genotyping 64 SNPs in two of the four linked regions (chromosomes 7 and 18), on the Sequenom iPlex platform in three European AAD case-control cohorts (1097 cases, 1117 controls). The data were analysed using a meta-analysis approach. In a parametric analysis, applying a rare dominant model, loci on chromosomes 7, 9 and 18 had LOD scores >2.8. In a non-parametric analysis, a locus corresponding to the HLA region on chromosome 6, known to be associated with AAD, had a LOD score >3.0. In the genome-wide association analysis, a SNP cluster on chromosome 2 and a pair of SNPs on chromosome 6 were associated with AAD (P <5x10-7). A meta-analysis of the replication study data demonstrated that three chromosome 18 SNPs were associated with AAD, including a non-synonymous variant in the NFATC1 gene. This linkage study has implicated a number of novel chromosomal regions in the pathogenesis of AAD in multiplex AAD families and adds further support to the role of HLA in AAD. The genome-wide association analysis has also identified a region of interest on chromosome 2. A replication study has demonstrated that the NFATC1 gene is worthy of future investigation, however each of the regions identified require further, systematic analysis.

  3. Linkage Analysis in Autoimmune Addison's Disease: NFATC1 as a Potential Novel Susceptibility Locus.

    Directory of Open Access Journals (Sweden)

    Anna L Mitchell

    Full Text Available Autoimmune Addison's disease (AAD is a rare, highly heritable autoimmune endocrinopathy. It is possible that there may be some highly penetrant variants which confer disease susceptibility that have yet to be discovered.DNA samples from 23 multiplex AAD pedigrees from the UK and Norway (50 cases, 67 controls were genotyped on the Affymetrix SNP 6.0 array. Linkage analysis was performed using Merlin. EMMAX was used to carry out a genome-wide association analysis comparing the familial AAD cases to 2706 UK WTCCC controls. To explore some of the linkage findings further, a replication study was performed by genotyping 64 SNPs in two of the four linked regions (chromosomes 7 and 18, on the Sequenom iPlex platform in three European AAD case-control cohorts (1097 cases, 1117 controls. The data were analysed using a meta-analysis approach.In a parametric analysis, applying a rare dominant model, loci on chromosomes 7, 9 and 18 had LOD scores >2.8. In a non-parametric analysis, a locus corresponding to the HLA region on chromosome 6, known to be associated with AAD, had a LOD score >3.0. In the genome-wide association analysis, a SNP cluster on chromosome 2 and a pair of SNPs on chromosome 6 were associated with AAD (P <5x10-7. A meta-analysis of the replication study data demonstrated that three chromosome 18 SNPs were associated with AAD, including a non-synonymous variant in the NFATC1 gene.This linkage study has implicated a number of novel chromosomal regions in the pathogenesis of AAD in multiplex AAD families and adds further support to the role of HLA in AAD. The genome-wide association analysis has also identified a region of interest on chromosome 2. A replication study has demonstrated that the NFATC1 gene is worthy of future investigation, however each of the regions identified require further, systematic analysis.

  4. Metabolic Biomarkers and Neurodegeneration: A Pathway Enrichment Analysis of Alzheimer's Disease, Parkinson's Disease, and Amyotrophic Lateral Sclerosis.

    Science.gov (United States)

    Kori, Medi; Aydın, Busra; Unal, Semra; Arga, Kazim Yalcin; Kazan, Dilek

    2016-11-01

    Neurodegenerative diseases such as Alzheimer's disease (AD), Parkinson's disease (PD), and amyotrophic lateral sclerosis (ALS) lack robust diagnostics and prognostic biomarkers. Metabolomics is a postgenomics field that offers fresh insights for biomarkers of common complex as well as rare diseases. Using data on metabolite-disease associations published in the previous decade (2006-2016) in PubMed, ScienceDirect, Scopus, and Web of Science, we identified 101 metabolites as putative biomarkers for these three neurodegenerative diseases. Notably, uric acid, choline, creatine, L-glutamine, alanine, creatinine, and N-acetyl-L-aspartate were the shared metabolite signatures among the three diseases. The disease-metabolite-pathway associations pointed out the importance of membrane transport (through ATP binding cassette transporters), particularly of arginine and proline amino acids in all three neurodegenerative diseases. When disease-specific and common metabolic pathways were queried by using the pathway enrichment analyses, we found that alanine, aspartate, glutamate, and purine metabolism might act as alternative pathways to overcome inadequate glucose supply and energy crisis in neurodegeneration. These observations underscore the importance of metabolite-based biomarker research in deciphering the elusive pathophysiology of neurodegenerative diseases. Future research investments in metabolomics of complex diseases might provide new insights on AD, PD, and ALS that continue to place a significant burden on global health.

  5. Enteric disease surveillance under the AFHSC-GEIS: Current efforts, landscape analysis and vision forward

    Directory of Open Access Journals (Sweden)

    Kasper Matthew R

    2011-03-01

    Full Text Available Abstract The mission of the Armed Forces Health Surveillance Center, Division of Global Emerging Infections Surveillance and Response System (AFHSC-GEIS is to support global public health and to counter infectious disease threats to the United States Armed Forces, including newly identified agents or those increasing in incidence. Enteric diseases are a growing threat to U.S. forces, which must be ready to deploy to austere environments where the risk of exposure to enteropathogens may be significant and where routine prevention efforts may be impractical. In this report, the authors review the recent activities of AFHSC-GEIS partner laboratories in regards to enteric disease surveillance, prevention and response. Each partner identified recent accomplishments, including support for regional networks. AFHSC/GEIS partners also completed a Strengths, Weaknesses, Opportunities and Threats (SWOT survey as part of a landscape analysis of global enteric surveillance efforts. The current strengths of this network include excellent laboratory infrastructure, equipment and personnel that provide the opportunity for high-quality epidemiological studies and test platforms for point-of-care diagnostics. Weaknesses include inconsistent guidance and a splintered reporting system that hampers the comparison of data across regions or longitudinally. The newly chartered Enterics Surveillance Steering Committee (ESSC is intended to provide clear mission guidance, a structured project review process, and central data management and analysis in support of rationally directed enteric disease surveillance efforts.

  6. Enzyme analysis for Pompe disease in leukocytes; superior results with natural substrate compared with artificial substrates.

    Science.gov (United States)

    van Diggelen, O P; Oemardien, L F; van der Beek, N A M E; Kroos, M A; Wind, H K; Voznyi, Y V; Burke, D; Jackson, M; Winchester, B G; Reuser, A J J

    2009-06-01

    Enzyme analysis for Pompe disease in leukocytes has been greatly improved by the introduction of acarbose, a powerful inhibitor of interfering alpha-glucosidases, which are present in granulocytes but not in lymphocytes. Here we show that the application of acarbose in the enzymatic assay employing the artificial substrate 4-methylumbelliferyl-alpha-D: -glucoside (MU-alphaGlc) is insufficient to clearly distinguish patients from healthy individuals in all cases. Also, the ratios of the activities without/with acarbose only marginally discriminated Pompe patients and healthy individuals. By contrast, when the natural substrate glycogen is used, the activity in leukocytes from patients (n = 82) with Pompe disease is at most 17% of the lowest control value. The use of artificial substrate in an assay with isolated lymphocytes instead of total leukocytes is a poor alternative as blood samples older than one day invariably yield lymphocyte preparations that are contaminated with granulocytes. To diagnose Pompe disease in leukocytes we recommend the use of glycogen as substrate in the presence of acarbose. This assay unequivocally excludes Pompe disease. To also exclude pseudo-deficiency of acid alpha-glucosidase caused by the sequence change c.271G>A (p.D91N or GAA2; homozygosity in approximately 1:1000 caucasians), a second assay employing MU-alphaGlc substrate plus acarbose or DNA analysis is required.

  7. Enteric disease surveillance under the AFHSC-GEIS: current efforts, landscape analysis and vision forward.

    Science.gov (United States)

    Money, Nisha N; Maves, Ryan C; Sebeny, Peter; Kasper, Matthew R; Riddle, Mark S; Wu, Max; Lee, James E; Schnabel, David; Bowden, Robert; Oaks, Edwin V; Ocaña, Victor; Acosta, Luis; Gotuzzo, Eduardo; Lanata, Claudio; Ochoa, Theresa; Aguayo, Nicolás; Bernal, Maruja; Meza, Rina; Canal, Enrique; Gregory, Michael; Cepeda, David; Listiyaningsih, Erlin; Putnam, Shannon D; Young, Sylvia; Mansour, Adel; Nakhla, Isabelle; Moustafa, Manal; Hassan, Khaled; Klena, John; Bruton, Jody; Shaheen, Hind; Farid, Sami; Fouad, Salwa; El-Mohamady, Hanan; Styles, Timothy; Shiau, L C D R Danny; Espinosa, Benjamin; McMullen, Kellie; Reed, Eva; Neil, Donald; Searles, Doug; Nevin, Remington; Von Thun, Annette; Sessions, Cecili

    2011-03-04

    The mission of the Armed Forces Health Surveillance Center, Division of Global Emerging Infections Surveillance and Response System (AFHSC-GEIS) is to support global public health and to counter infectious disease threats to the United States Armed Forces, including newly identified agents or those increasing in incidence. Enteric diseases are a growing threat to U.S. forces, which must be ready to deploy to austere environments where the risk of exposure to enteropathogens may be significant and where routine prevention efforts may be impractical. In this report, the authors review the recent activities of AFHSC-GEIS partner laboratories in regards to enteric disease surveillance, prevention and response. Each partner identified recent accomplishments, including support for regional networks. AFHSC/GEIS partners also completed a Strengths, Weaknesses, Opportunities and Threats (SWOT) survey as part of a landscape analysis of global enteric surveillance efforts. The current strengths of this network include excellent laboratory infrastructure, equipment and personnel that provide the opportunity for high-quality epidemiological studies and test platforms for point-of-care diagnostics. Weaknesses include inconsistent guidance and a splintered reporting system that hampers the comparison of data across regions or longitudinally. The newly chartered Enterics Surveillance Steering Committee (ESSC) is intended to provide clear mission guidance, a structured project review process, and central data management and analysis in support of rationally directed enteric disease surveillance efforts.

  8. Phylogenetic and chronological analysis of proteins causing Alzheimer's, Parkinson's and Huntington's diseases

    Directory of Open Access Journals (Sweden)

    Bilal Hussain

    2012-09-01

    Full Text Available It is evident that Neurodegenerative diseases (Alzheimer's, Parkinson's and Huntington's have many similarities at cellular and molecular level as they carry parallel mechanisms including protein aggregation and inclusion body formation caused by protein mis-folding. The main objective of this study was to have detailed insight on variation and resemblance among these proteins. One hundred and four protein sequences, both directly and indirectly involved in disease mechanism to perform phylogenetic analysis revealing insight on evolutionary relationship among these proteins, were selected. The percentage of replicate trees, in which the associated taxa clustered together in the bootstrap test, was 1000 replicates. Various statistical tests were performed for the confirmation of results e.g., Tajma's Neutrality Test showed D gt 6, nucleotide diversity π gt 0.6 and ps value as greater than 1. Phylogenetic analysis showed that the protein sequences of neurodegenerative diseases had high sequence similarity and identity to each other as depicted by the evolutionary tree. It showed the similar mechanism of evolving from each other and had similar mechanism of generating mis-folding leading towards symptoms of disease.

  9. Genomic convergence to identify candidate genes for Parkinson disease: SAGE analysis of the substantia nigra.

    Science.gov (United States)

    Noureddine, Maher A; Li, Yi-Ju; van der Walt, Joelle M; Walters, Robert; Jewett, Rita M; Xu, Hong; Wang, Tianyuan; Walter, Jeffrey W; Scott, Burton L; Hulette, Christine; Schmechel, Don; Stenger, Judith E; Dietrich, Fred; Vance, Jeffery M; Hauser, Michael A

    2005-10-01

    Genomic convergence is a multistep approach that combines gene expression with genomic linkage to identify and prioritize susceptibility genes for complex disease. As a first step, we previously performed linkage analysis on 174 multiplex Parkinson's disease (PD) families, identifying five peaks for PD risk and two for genes affecting age at onset (AAO) in PD [Hauser et al., Hum Mol Genet 2003;12:671-677]. We report here the next step: serial analysis of gene expression [SAGE; Scott et al., JAMA 2001;286:2239-2242] to analyze substantia nigra tissue from three PD patients and two age-matched controls. We find 933 differentially expressed genes (Pgenetic effects on AAO. Copyright (c) 2005 Movement Disorder Society.

  10. Identification of the Causative Disease of Intermittent Claudication through Walking Motion Analysis: Feature Analysis and Differentiation

    Directory of Open Access Journals (Sweden)

    Tetsuyou Watanabe

    2014-01-01

    Full Text Available Intermittent claudication is a walking symptom. Patients with intermittent claudication experience lower limb pain after walking for a short time. However, rest relieves the pain and allows the patient to walk again. Unfortunately, this symptom predominantly arises from not 1 but 2 different diseases: LSS (lumber spinal canal stenosis and PAD (peripheral arterial disease. Patients with LSS can be subdivided by the affected vertebra into 2 main groups: L4 and L5. It is clinically very important to determine whether patients with intermittent claudication suffer from PAD, L4, or L5. This paper presents a novel SVM- (support vector machine- based methodology for such discrimination/differentiation using minimally required data, simple walking motion data in the sagittal plane. We constructed a simple walking measurement system that is easy to set up and calibrate and suitable for use by nonspecialists in small spaces. We analyzed the obtained gait patterns and derived input parameters for SVM that are also visually detectable and medically meaningful/consistent differentiation features. We present a differentiation methodology utilizing an SVM classifier. Leave-one-out cross-validation of differentiation/classification by this method yielded a total accuracy of 83%.

  11. Urbanization and human health in urban India: institutional analysis of water-borne diseases in Ahmedabad.

    Science.gov (United States)

    Saravanan, V S; Ayessa Idenal, Marissa; Saiyed, Shahin; Saxena, Deepak; Gerke, Solvay

    2016-10-01

    Diseases are rapidly urbanizing. Ageing infrastructures, high levels of inequality, poor urban governance, rapidly growing economies and highly dense and mobile populations all create environments rife for water-borne diseases. This article analyzes the role of institutions as crosscutting entities among a myriad of factors that breed water-borne diseases in the city of Ahmedabad, India. It applies 'path dependency' and a 'rational choice' perspective to understand the factors facilitating the breeding of diseases. This study is based on household surveys of approximately 327 households in two case study wards and intermittent interviews with key informants over a period of 2 years. Principle component analysis is applied to reduce the data and convert a set of observations, which potentially correlate with each other, into components. Institutional analyses behind these components reveal the role of social actors in exploiting the deeply rooted inefficiencies affecting urban health. This has led to a vicious cycle; breaking this cycle requires understanding the political dynamics that underlie the exposure and prevalence of diseases to improve urban health.

  12. Metatranscriptome analysis of the reef-building coral Orbicella faveolata indicates holobiont response to coral disease

    KAUST Repository

    Daniels, Camille Arian

    2015-09-11

    White Plague Disease (WPD) is implicated in coral reef decline in the Caribbean and is characterized by microbial community shifts in coral mucus and tissue. Studies thus far have focused on assessing microbial communities or the identification of specific pathogens, yet few have addressed holobiont response across metaorganism compartments in coral disease. Here, we report on the first metatranscriptomic assessment of the coral host, algal symbiont, and microbial compartment in order to survey holobiont structure and function in healthy and diseased samples from Orbicella faveolata collected at reef sites off Puerto Rico. Our data indicate holobiont-wide as well as compartment-specific responses to WPD. Gene expression changes in the diseased coral host involved proteins playing a role in innate immunity, cytoskeletal integrity, cell adhesion, oxidative stress, chemical defense, and retroelements. In contrast, the algal symbiont showed comparatively few expression changes, but of large magnitude, of genes related to stress, photosynthesis, and metal transport. Concordant with the coral host response, the bacterial compartment showed increased abundance of heat shock proteins, genes related to oxidative stress, DNA repair, and potential retroelement activity. Importantly, analysis of the expressed bacterial gene functions establishes the participation of multiple bacterial families in WPD pathogenesis and also suggests a possible involvement of viruses and/or phages in structuring the bacterial assemblage. In this study, we implement an experimental approach to partition the coral holobiont and resolve compartment- and taxa-specific responses in order to understand metaorganism function in coral disease.

  13. Metatranscriptome analysis of the reef-buidling coral Orbicella faveolata indicates holobiont response to coral disease

    Directory of Open Access Journals (Sweden)

    Camille eDaniels

    2015-09-01

    Full Text Available White Plague Disease (WPD is implicated in coral reef decline in the Caribbean and is characterized by microbial community shifts in coral mucus and tissue. Studies thus far have focused on assessing microbial communities or the identification of specific pathogens, yet few have addressed holobiont response across metaorganism compartments in coral disease. Here, we report on the first metatranscriptomic assessment of the coral host, algal symbiont, and microbial compartment in order to survey holobiont structure and function in healthy and diseased samples from Orbicella faveolata collected at reef sites off Puerto Rico. Our data indicate metaorganism-wide as well as compartment-specific responses to WPD. Gene expression changes in the diseased coral host involved proteins playing a role in innate immunity, cytoskeletal integrity, cell adhesion, oxidative stress, chemical defense, and retroelements. In contrast, the algal symbiont showed comparatively few expression changes, but of large magnitude, of genes related to stress, photosynthesis, and metal transport. Concordant with the coral host response, the bacterial compartment showed increased abundance of heat shock proteins, genes related to oxidative stress, DNA repair, and potential retroelement activity. Importantly, analysis of the expressed bacterial gene functions establishes the participation of multiple bacterial families in WPD pathogenesis and also suggests a possible involvement of viruses and/or phages in structuring the bacterial assemblage. In this study, we implement an experimental approach to partition the coral holobiont and resolve compartment- and taxa-specific responses in order to understand metaorganism function in coral disease.

  14. Tau gene and Parkinson's disease: a case–control study and meta-analysis

    Science.gov (United States)

    Healy, D; Abou-Sleiman, P; Lees, A; Casas, J; Quinn, N; Bhatia, K; Hingorani, A; Wood, N

    2004-01-01

    Objective: To investigate whether the tau H1 haplotype is a genetic risk factor in Parkinson's disease and to report a meta-analysis on all previously published data Methods and results: In a sample of 580 patients with Parkinson's disease and 513 controls there was an increased risk of Parkinson's disease for both the tau H1 haplotype (p⩽0.0064; odds ratio (OR) 1.34 (95% confidence interval (CI), 1.04 to 1.72)) and the H1H1 genotype (p⩽0.0047; OR 1.42 (1.1 to 1.83)). Under a fixed effect model, the summary OR for this showed that individuals homozygous for the H1 allele were 1.57 times more likely to develop Parkinson's disease than individuals carrying the H2 allele (95% CI 1.33 to 1.85; pParkinson's disease. This adds to the growing body of evidence that common genetic variation contributes to the pathogenesis of this disorder. PMID:15201350

  15. Identification of causal genetic drivers of human disease through systems-level analysis of regulatory networks

    Science.gov (United States)

    Chen, James C.; Alvarez, Mariano J.; Talos, Flaminia; Dhruv, Harshil; Rieckhof, Gabrielle E.; Iyer, Archana; Diefes, Kristin L.; Aldape, Kenneth; Berens, Michael; Shen, Michael M.; Califano, Andrea

    2014-01-01

    SUMMARY Identification of driver mutations in human diseases is often limited by cohort size and availability of appropriate statistical models. We propose a novel framework for the systematic discovery of genetic alterations that are causal determinants of disease, by prioritizing genes upstream of functional disease drivers, within regulatory networks inferred de novo from experimental data. We tested this framework by identifying the genetic determinants of the mesenchymal subtype of glioblastoma. Our analysis uncovered KLHL9 deletions as upstream activators of two previously established master regulators of the subtype, C/EBPβ and C/EBPδ. Rescue of KLHL9 expression induced proteasomal degradation of C/EBP proteins, abrogated the mesenchymal signature, and reduced tumor viability in vitro and in vivo. Deletions of KLHL9 were confirmed in >50% of mesenchymal cases in an independent cohort, thus representing the most frequent genetic determinant of the subtype. The method generalized to study other human diseases, including breast cancer and Alzheimer’s disease. PMID:25303533

  16. Latent physiological factors of complex human diseases revealed by independent component analysis of clinarrays

    Directory of Open Access Journals (Sweden)

    Chen David P

    2010-10-01

    Full Text Available Abstract Background Diagnosis and treatment of patients in the clinical setting is often driven by known symptomatic factors that distinguish one particular condition from another. Treatment based on noticeable symptoms, however, is limited to the types of clinical biomarkers collected, and is prone to overlooking dysfunctions in physiological factors not easily evident to medical practitioners. We used a vector-based representation of patient clinical biomarkers, or clinarrays, to search for latent physiological factors that underlie human diseases directly from clinical laboratory data. Knowledge of these factors could be used to improve assessment of disease severity and help to refine strategies for diagnosis and monitoring disease progression. Results Applying Independent Component Analysis on clinarrays built from patient laboratory measurements revealed both known and novel concomitant physiological factors for asthma, types 1 and 2 diabetes, cystic fibrosis, and Duchenne muscular dystrophy. Serum sodium was found to be the most significant factor for both type 1 and type 2 diabetes, and was also significant in asthma. TSH3, a measure of thyroid function, and blood urea nitrogen, indicative of kidney function, were factors unique to type 1 diabetes respective to type 2 diabetes. Platelet count was significant across all the diseases analyzed. Conclusions The results demonstrate that large-scale analyses of clinical biomarkers using unsupervised methods can offer novel insights into the pathophysiological basis of human disease, and suggest novel clinical utility of established laboratory measurements.

  17. [Analysis and discussion of clinical relativity between virulent heat-evils and thrombosis-related diseases].

    Science.gov (United States)

    Liang, Ai-Hua; Timothy, M Chan

    2008-02-01

    The pathogeny and the pathogenesis of thrombosis-related diseases are complicated, and family heredity, hypertension, hyperlipoidaemia diabetes and smoking are traditionally considered to be the risky factors. In recent years, various evidences have indicated that infection and inflammation which are defined as virulent heat-evils in traditional Chinese medicine (TCM) are also the risky factors for thrombosis-related diseases. This article analyzed the clinical relativity between virulent heat-evils and thrombosis-related diseases from epidemiology and clinical evidences and the therapeutical practices of TCM on the treatment of thrombosis by using clear away heat-evil and toxic materials principle. Based on the analysis, it can be concluded that dispelling of virulent heat-evils is important for the treatment thrombosis-related diseases. Now the essential of virulent heat-evils associated with thrombosis-related diseases and the nosogenesis of virulent heat-evils are still difficult to be rationally elucidated, and the anti-thrombosis activity of Chinese medicine which functioned as clearing away heat-evil and toxic materials can not be objectively screened and evaluated because no proper thrombosis animal model with virulent heat-evils basis is available at present. Thus, it is necessary to establish a suitable virulent heat-evil-induced thrombosis animal model.

  18. Coalescent inference for infectious disease: meta-analysis of hepatitis C

    OpenAIRE

    Dearlove, Bethany; Daniel J. Wilson

    2013-01-01

    Genetic analysis of pathogen genomes is a powerful approach to investigating the population dynamics and epidemic history of infectious diseases. However, the theoretical underpinnings of the most widely used, coalescent methods have been questioned, casting doubt on their interpretation. The aim of this study is to develop robust population genetic inference for compartmental models in epidemiology. Using a general approach based on the theory of metapopulations, we derive coalescent models ...

  19. A meta-analysis of the risk of venous thromboembolism in inflammatory rheumatic diseases

    OpenAIRE

    Lee, Jason J.; Pope, Janet E.

    2014-01-01

    Introduction We performed a meta-analysis to investigate the risk of deep vein thrombosis (DVT) and/or pulmonary embolisms (PEs) in patients with inflammatory arthritis, vasculitis and connective tissue diseases (CTDs) (systemic lupus erythematosus (SLE), Sjögren’s syndrome, inflammatory myositis and systemic sclerosis (SSc)). Methods PubMed, Embase, the Cochrane databases and MEDLINE were searched to identify full-text English-language publications about adult patients with rheumatologic inf...

  20. Disagreement between symptom-reflux association analysis parameters in pediatric gastroesophageal reflux disease investigation

    Institute of Scientific and Technical Information of China (English)

    Samuel; C; Lüthold; Mascha; K; Rochat; Peter; Bhler

    2010-01-01

    AIM: To assess the agreement within 3 commonly used symptom-reflux association analysis (SAA) parameters investigating gastroesophageal reflux disease (GERD) in infants. METHODS: Twenty three infants with suspected GERD were included in this study. Symptom index (SI), Symptom sensitivity index (SSI) and symptom association probability (SAP) related to cough and irritability were calculated after 24 h combined pH/multiple intraluminal impedance (MII) monitoring. Through defined cutoff values, SI, SSI and SAP...

  1. Pathway analysis of GWAS provides new insights into genetic susceptibility to 3 inflammatory diseases.

    Directory of Open Access Journals (Sweden)

    Hariklia Eleftherohorinou

    Full Text Available Although the introduction of genome-wide association studies (GWAS have greatly increased the number of genes associated with common diseases, only a small proportion of the predicted genetic contribution has so far been elucidated. Studying the cumulative variation of polymorphisms in multiple genes acting in functional pathways may provide a complementary approach to the more common single SNP association approach in understanding genetic determinants of common disease. We developed a novel pathway-based method to assess the combined contribution of multiple genetic variants acting within canonical biological pathways and applied it to data from 14,000 UK individuals with 7 common diseases. We tested inflammatory pathways for association with Crohn's disease (CD, rheumatoid arthritis (RA and type 1 diabetes (T1D with 4 non-inflammatory diseases as controls. Using a variable selection algorithm, we identified variants responsible for the pathway association and evaluated their use for disease prediction using a 10 fold cross-validation framework in order to calculate out-of-sample area under the Receiver Operating Curve (AUC. The generalisability of these predictive models was tested on an independent birth cohort from Northern Finland. Multiple canonical inflammatory pathways showed highly significant associations (p 10(-3-10(-20 with CD, T1D and RA. Variable selection identified on average a set of 205 SNPs (149 genes for T1D, 350 SNPs (189 genes for RA and 493 SNPs (277 genes for CD. The pattern of polymorphisms at these SNPS were found to be highly predictive of T1D (91% AUC and RA (85% AUC, and weakly predictive of CD (60% AUC. The predictive ability of the T1D model (without any parameter refitting had good predictive ability (79% AUC in the Finnish cohort. Our analysis suggests that genetic contribution to common inflammatory diseases operates through multiple genes interacting in functional pathways.

  2. [Bibliometric analysis of the Spanish scientific production in Infectious Diseases and Microbiology].

    Science.gov (United States)

    Ramos, José Manuel; González-Alcaide, Gregorio; Gutiérrez, Félix

    2016-03-01

    The bibliometric analysis of production and impact of documents by knowledge area is a quantitative and qualitative indicator of research activity in this field. The aim of this article is to determine the contribution of Spanish research institutions in Infectious Diseases and Microbiology in recent years. Documents published in the journals included in the categories "Infectious Diseases" and "Microbiology" of the Web of Science (Science Citation Index Expanded) of the ISI Web of Knowledge from the year 2000-2013 were analysed. In Infectious Diseases, Spain ranked fourth worldwide, and contributed 5.7% of the 233,771 documents published in this specialty. In Microbiology, Spain was in sixth place with a production rate of 5.8% of the 149,269 documents of this category. The Spanish production increased over the study period, both in Infectious Diseases and Microbiology, from 325 and 619 documents in 2000 to 756 and 1245 documents in 2013, with a growth rate of 131% and 45.8%, respectively. The journal with the largest number of documents published was Enfermedades Infecciosas y Microbiología Clínica, with 8.6% and 8.2% of papers published in the categories of Infectious Diseases and Microbiology, respectively, and was the result of international collaborations, especially with institutions in the United States. The "index h" was 116 and 139 in Infectious Diseases and Microbiology, placing Spain in fifth place in both categories within countries of the European Union. In recent years, Spanish research in Infectious Diseases and Microbiology has reached a good level of production and international visibility, reaching a global leadership position. Copyright © 2015. Published by Elsevier España, S.L.U.

  3. Integrative Analysis of Multi-omics Data for Discovery and Functional Studies of Complex Human Diseases.

    Science.gov (United States)

    Sun, Yan V; Hu, Yi-Juan

    2016-01-01

    Complex and dynamic networks of molecules are involved in human diseases. High-throughput technologies enable omics studies interrogating thousands to millions of makers with similar biochemical properties (eg, transcriptomics for RNA transcripts). However, a single layer of "omics" can only provide limited insights into the biological mechanisms of a disease. In the case of genome-wide association studies, although thousands of single nucleotide polymorphisms have been identified for complex diseases and traits, the functional implications and mechanisms of the associated loci are largely unknown. Additionally, the genomic variants alone are not able to explain the changing disease risk across the life span. DNA, RNA, protein, and metabolite often have complementary roles to jointly perform a certain biological function. Such complementary effects and synergistic interactions between omic layers in the life course can only be captured by integrative study of multiple molecular layers. Building upon the success in single-omics discovery research, population studies started adopting the multi-omics approach to better understanding the molecular function and disease etiology. Multi-omics approaches integrate data obtained from different omic levels to understand their interrelation and combined influence on the disease processes. Here, we summarize major omics approaches available in population research, and review integrative approaches and methodologies interrogating multiple omic layers, which enhance the gene discovery and functional analysis of human diseases. We seek to provide analytical recommendations for different types of multi-omics data and study designs to guide the emerging multi-omic research, and to suggest improvement of the existing analytical methods. Copyright © 2016 Elsevier Inc. All rights reserved.

  4. Spatially explicit multi-criteria decision analysis for managing vector-borne diseases.

    Science.gov (United States)

    Hongoh, Valerie; Hoen, Anne Gatewood; Aenishaenslin, Cécile; Waaub, Jean-Philippe; Bélanger, Denise; Michel, Pascal

    2011-12-29

    The complex epidemiology of vector-borne diseases creates significant challenges in the design and delivery of prevention and control strategies, especially in light of rapid social and environmental changes. Spatial models for predicting disease risk based on environmental factors such as climate and landscape have been developed for a number of important vector-borne diseases. The resulting risk maps have proven value for highlighting areas for targeting public health programs. However, these methods generally only offer technical information on the spatial distribution of disease risk itself, which may be incomplete for making decisions in a complex situation. In prioritizing surveillance and intervention strategies, decision-makers often also need to consider spatially explicit information on other important dimensions, such as the regional specificity of public acceptance, population vulnerability, resource availability, intervention effectiveness, and land use. There is a need for a unified strategy for supporting public health decision making that integrates available data for assessing spatially explicit disease risk, with other criteria, to implement effective prevention and control strategies. Multi-criteria decision analysis (MCDA) is a decision support tool that allows for the consideration of diverse quantitative and qualitative criteria using both data-driven and qualitative indicators for evaluating alternative strategies with transparency and stakeholder participation. Here we propose a MCDA-based approach to the development of geospatial models and spatially explicit decision support tools for the management of vector-borne diseases. We describe the conceptual framework that MCDA offers as well as technical considerations, approaches to implementation and expected outcomes. We conclude that MCDA is a powerful tool that offers tremendous potential for use in public health decision-making in general and vector-borne disease management in particular.

  5. Spatially explicit multi-criteria decision analysis for managing vector-borne diseases

    Directory of Open Access Journals (Sweden)

    Hongoh Valerie

    2011-12-01

    Full Text Available Abstract The complex epidemiology of vector-borne diseases creates significant challenges in the design and delivery of prevention and control strategies, especially in light of rapid social and environmental changes. Spatial models for predicting disease risk based on environmental factors such as climate and landscape have been developed for a number of important vector-borne diseases. The resulting risk maps have proven value for highlighting areas for targeting public health programs. However, these methods generally only offer technical information on the spatial distribution of disease risk itself, which may be incomplete for making decisions in a complex situation. In prioritizing surveillance and intervention strategies, decision-makers often also need to consider spatially explicit information on other important dimensions, such as the regional specificity of public acceptance, population vulnerability, resource availability, intervention effectiveness, and land use. There is a need for a unified strategy for supporting public health decision making that integrates available data for assessing spatially explicit disease risk, with other criteria, to implement effective prevention and control strategies. Multi-criteria decision analysis (MCDA is a decision support tool that allows for the consideration of diverse quantitative and qualitative criteria using both data-driven and qualitative indicators for evaluating alternative strategies with transparency and stakeholder participation. Here we propose a MCDA-based approach to the development of geospatial models and spatially explicit decision support tools for the management of vector-borne diseases. We describe the conceptual framework that MCDA offers as well as technical considerations, approaches to implementation and expected outcomes. We conclude that MCDA is a powerful tool that offers tremendous potential for use in public health decision-making in general and vector

  6. Anterior mediastinal fat in Behçet's disease: qualitative and quantitative CT analysis.

    Science.gov (United States)

    Lee, Sang Yub; Lee, Jongmin; Lee, Hui Joong; Choi, Sun Ju; Hahm, Myong Hun; Yoon, Sung Won

    2013-12-01

    The fat-rich anterior mediastinum could be a sensitive window for monitoring minute changes in vascularity induced by systemic vasculitis. To evaluate this hypothesis, an analysis of anterior mediastinal fat in patients with Behçet's disease and a control group was conducted. This study included 43 patients diagnosed with Behçet's disease within the last 11 years who underwent CT scan; 55 patients were selected as a control population. Mediastinal fat was classified according to CT morphology. Comparison of serum inflammatory markers was performed for evaluation of disease activity according to morphologic types, and average Hounsfield unit of the anterior mediastinum was measured. Significantly higher mean CT attenuation was observed in the Behçet's disease group, compared with the control group (-48.5 ± 33.5 vs. -67.7 ± 18.7, respectively, P fat types were classified as follows: pure fatty tissue (2 vs. 31 % [Behçet's disease vs. control group]), diffuse soft tissue infiltration (16 vs. 29 %), tubular structures (21 vs. 4 %), mixed infiltration with tubular structures (42 vs. 15 %), and evident thymic tissue (19 vs. 22 %). The value for mean mediastinal attenuation was significantly higher in the group with a high level of C-reactive protein than in the normal level group. The mean CT attenuation of anterior mediastinal fat is significantly higher in the Behçet's disease group, compared with the normal group. Although pathologic confirmation is needed, the cause is postulated to be either inflammatory neovascularization or minimal thymic hyperplasia induced by Behçet's disease.

  7. Celiac Disease and Increased Risk of Pneumococcal Infection: A Systematic Review and Meta-Analysis.

    Science.gov (United States)

    Simons, Malorie; Scott-Sheldon, Lori A J; Risech-Neyman, Yesenia; Moss, Steven F; Ludvigsson, Jonas F; Green, Peter H R

    2017-08-08

    Celiac disease has been associated with hyposplenism, and multiple case reports link celiac disease and pneumococcal infections; however, increased risk of pneumococcal infection in celiac disease has not been confirmed. The purpose of this study was to conduct a systematic review to determine the risk of pneumococcal infections in celiac disease. Relevant studies were identified using electronic bibliographic searches of PubMed, OVID, Medline, and EMBASE (1980 to February 2017) and reviewing abstracts from major conferences in gastroenterology. Using number of events in celiac patients and referent patients, we calculated a summary relative risk of pneumococcal infections. All analyses were conducted in Comprehensive Meta-Analysis software using random-effects assumptions. Of a total of 156 articles, 3, representing 3 large databases (the Swedish National Inpatient Register; the Oxford Record Linkage Study; and the English National Hospital Episode Statistics) were included. Each compared patients with celiac disease and confirmed pneumococcal infection to a specific reference group: inpatients and/or the general population. Overall, the odds of pneumococcal infection were higher among hospitalized celiac patients compared with controls (odds ratio 1.66; 95% confidence interval 1.43-1.92). There was no evidence of heterogeneity (Q[1] = 1.17, P = .56, I(2) = 0%). Celiac disease is associated with an increased risk of pneumococcal infection. Preventive pneumococcal vaccination should be considered for those with celiac disease, with special attention to those aged 15-64 years who have not received the scheduled pneumococcal vaccination series as a child. Copyright © 2017 Elsevier Inc. All rights reserved.

  8. Building a picture: Prioritisation of exotic diseases for the pig industry in Australia using multi-criteria decision analysis.

    Science.gov (United States)

    Brookes, V J; Hernández-Jover, M; Cowled, B; Holyoake, P K; Ward, M P

    2014-01-01

    Diseases that are exotic to the pig industry in Australia were prioritised using a multi-criteria decision analysis framework that incorporated weights of importance for a range of criteria important to industry stakeholders. Measurements were collected for each disease for nine criteria that described potential disease impacts. A total score was calculated for each disease using a weighted sum value function that aggregated the nine disease criterion measurements and weights of importance for the criteria that were previously elicited from two groups of industry stakeholders. One stakeholder group placed most value on the impacts of disease on livestock, and one group placed more value on the zoonotic impacts of diseases. Prioritisation lists ordered by disease score were produced for both of these groups. Vesicular diseases were found to have the highest priority for the group valuing disease impacts on livestock, followed by acute forms of African and classical swine fever, then highly pathogenic porcine reproductive and respiratory syndrome. The group who valued zoonotic disease impacts prioritised rabies, followed by Japanese encephalitis, Eastern equine encephalitis and Nipah virus, interspersed with vesicular diseases. The multi-criteria framework used in this study systematically prioritised diseases using a multi-attribute theory based technique that provided transparency and repeatability in the process. Flexibility of the framework was demonstrated by aggregating the criterion weights from more than one stakeholder group with the disease measurements for the criteria. This technique allowed industry stakeholders to be active in resource allocation for their industry without the need to be disease experts. We believe it is the first prioritisation of livestock diseases using values provided by industry stakeholders. The prioritisation lists will be used by industry stakeholders to identify diseases for further risk analysis and disease spread modelling to

  9. A meta-analysis of HLA-antigen prevalences in alcoholics and alcoholic liver disease

    DEFF Research Database (Denmark)

    List, S; Gluud, C

    1994-01-01

    suspected of being associated with both alcoholism and alcoholic liver disease. In the present study a meta-analysis is carried out on the data from these studies, subdivided according to race and degree of liver injury. The conclusion is that none of the HLA-phenotypes so far investigated in Caucasians can...... be shown to be significantly more common in any of the studied patient categories than in controls, whereas the results of Japanese studies are less clear. The limitations of the data material and the design of the studies are discussed, as well as the strength and limitations of the method of meta-analysis....

  10. Integrative analysis for finding genes and networks involved in diabetes and other complex diseases

    DEFF Research Database (Denmark)

    Bergholdt, R.; Størling, Zenia, Marian; Hansen, Kasper Lage;

    2007-01-01

    identified a number of new protein network modules and novel candidate genes/proteins for type 1 diabetes. We propose this type of integrative analysis as a general method for the elucidation of genes and networks involved in diabetes and other complex diseases.......We have developed an integrative analysis method combining genetic interactions, identified using type 1 diabetes genome scan data, and a high-confidence human protein interaction network. Resulting networks were ranked by the significance of the enrichment of proteins from interacting regions. We...

  11. Analysis of the robustness of network-based disease-gene prioritization methods reveals redundancy in the human interactome and functional diversity of disease-genes.

    Directory of Open Access Journals (Sweden)

    Emre Guney

    Full Text Available Complex biological systems usually pose a trade-off between robustness and fragility where a small number of perturbations can substantially disrupt the system. Although biological systems are robust against changes in many external and internal conditions, even a single mutation can perturb the system substantially, giving rise to a pathophenotype. Recent advances in identifying and analyzing the sequential variations beneath human disorders help to comprehend a systemic view of the mechanisms underlying various disease phenotypes. Network-based disease-gene prioritization methods rank the relevance of genes in a disease under the hypothesis that genes whose proteins interact with each other tend to exhibit similar phenotypes. In this study, we have tested the robustness of several network-based disease-gene prioritization methods with respect to the perturbations of the system using various disease phenotypes from the Online Mendelian Inheritance in Man database. These perturbations have been introduced either in the protein-protein interaction network or in the set of known disease-gene associations. As the network-based disease-gene prioritization methods are based on the connectivity between known disease-gene associations, we have further used these methods to categorize the pathophenotypes with respect to the recoverability of hidden disease-genes. Our results have suggested that, in general, disease-genes are connected through multiple paths in the human interactome. Moreover, even when these paths are disturbed, network-based prioritization can reveal hidden disease-gene associations in some pathophenotypes such as breast cancer, cardiomyopathy, diabetes, leukemia, parkinson disease and obesity to a greater extend compared to the rest of the pathophenotypes tested in this study. Gene Ontology (GO analysis highlighted the role of functional diversity for such diseases.

  12. The theory and fundamentals of bioimpedance analysis in clinical status monitoring and diagnosis of diseases.

    Science.gov (United States)

    Khalil, Sami F; Mohktar, Mas S; Ibrahim, Fatimah

    2014-06-19

    Bioimpedance analysis is a noninvasive, low cost and a commonly used approach for body composition measurements and assessment of clinical condition. There are a variety of methods applied for interpretation of measured bioimpedance data and a wide range of utilizations of bioimpedance in body composition estimation and evaluation of clinical status. This paper reviews the main concepts of bioimpedance measurement techniques including the frequency based, the allocation based, bioimpedance vector analysis and the real time bioimpedance analysis systems. Commonly used prediction equations for body composition assessment and influence of anthropometric measurements, gender, ethnic groups, postures, measurements protocols and electrode artifacts in estimated values are also discussed. In addition, this paper also contributes to the deliberations of bioimpedance analysis assessment of abnormal loss in lean body mass and unbalanced shift in body fluids and to the summary of diagnostic usage in different kinds of conditions such as cardiac, pulmonary, renal, and neural and infection diseases.

  13. The Theory and Fundamentals of Bioimpedance Analysis in Clinical Status Monitoring and Diagnosis of Diseases

    Directory of Open Access Journals (Sweden)

    Sami F. Khalil

    2014-06-01

    Full Text Available Bioimpedance analysis is a noninvasive, low cost and a commonly used approach for body composition measurements and assessment of clinical condition. There are a variety of methods applied for interpretation of measured bioimpedance data and a wide range of utilizations of bioimpedance in body composition estimation and evaluation of clinical status. This paper reviews the main concepts of bioimpedance measurement techniques including the frequency based, the allocation based, bioimpedance vector analysis and the real time bioimpedance analysis systems. Commonly used prediction equations for body composition assessment and influence of anthropometric measurements, gender, ethnic groups, postures, measurements protocols and electrode artifacts in estimated values are also discussed. In addition, this paper also contributes to the deliberations of bioimpedance analysis assessment of abnormal loss in lean body mass and unbalanced shift in body fluids and to the summary of diagnostic usage in different kinds of conditions such as cardiac, pulmonary, renal, and neural and infection diseases.

  14. Qualitative and Quantitative Proteome Analysis of Oral Fluids in Health and Periodontal Disease by Mass Spectrometry.

    Science.gov (United States)

    Salih, Erdjan

    2017-01-01

    The significance of protein identification and characterization by classical protein chemistry approaches is clearly highlighted by our detailed understanding of the biological systems assembled over a time period of almost a century. The advent of state-of-the-art mass spectrometry (MS) with sensitivity, speed, and global protein analysis capacity without individual protein purification has transformed the classical protein chemistry with premise to accelerate discovery. These combined with the ability of the oral fluids such as whole saliva (WS) and gingival crevicular fluid (GCF) to reflect both systemic and locally derived proteins have generated significant interest to characterize these fluids more extensively by MS technology. This chapter deals with the experimental details of preanalytical steps using multidimensional protein separation combined with MS analysis of WS and GCF to achieve detailed protein composition at qualitative and quantitative levels. These approaches are interfaced with gold standard "stable-isotope" labeling technologies for large-scale quantitative MS analysis which is a prerequisite to determine accurate alterations in protein levels as a function of disease progression. The latter incorporates two stable-isotope chemistries one specific for cysteine containing proteins and the other universal amine-specific reagent in conjunction with oral fluids in health and periodontal disease to perform quantitative MS analysis. In addition, specific preanalytical steps demanded by the oral fluids such as GCF and WS for sample preparations to overcome limitations and uncertainties are elaborated for reliable large-scale quantitative MS analysis.

  15. New journal selection for quantitative survey of infectious disease research: application for Asian trend analysis

    Directory of Open Access Journals (Sweden)

    Okabe Nobuhiko

    2009-10-01

    Full Text Available Abstract Background Quantitative survey of research articles, as an application of bibliometrics, is an effective tool for grasping overall trends in various medical research fields. This type of survey has been also applied to infectious disease research; however, previous studies were insufficient as they underestimated articles published in non-English or regional journals. Methods Using a combination of Scopus™ and PubMed, the databases of scientific literature, and English and non-English keywords directly linked to infectious disease control, we identified international and regional infectious disease journals. In order to ascertain whether the newly selected journals were appropriate to survey a wide range of research articles, we compared the number of original articles and reviews registered in the selected journals to those in the 'Infectious Disease Category' of the Science Citation Index Expanded™ (SCI Infectious Disease Category during 1998-2006. Subsequently, we applied the newly selected journals to survey the number of original articles and reviews originating from 11 Asian countries during the same period. Results One hundred journals, written in English or 7 non-English languages, were newly selected as infectious disease journals. The journals published 14,156 original articles and reviews of Asian origin and 118,158 throughout the world, more than those registered in the SCI Infectious Disease Category (4,621 of Asian origin and 66,518 of the world in the category. In Asian trend analysis of the 100 journals, Japan had the highest percentage of original articles and reviews in the area, and no noticeable increase in articles was revealed during the study period. China, India and Taiwan had relatively large numbers and a high increase rate of original articles among Asian countries. When adjusting the publication of original articles according to the country population and the gross domestic product (GDP, Singapore and

  16. New journal selection for quantitative survey of infectious disease research: application for Asian trend analysis

    Science.gov (United States)

    2009-01-01

    Background Quantitative survey of research articles, as an application of bibliometrics, is an effective tool for grasping overall trends in various medical research fields. This type of survey has been also applied to infectious disease research; however, previous studies were insufficient as they underestimated articles published in non-English or regional journals. Methods Using a combination of Scopus™ and PubMed, the databases of scientific literature, and English and non-English keywords directly linked to infectious disease control, we identified international and regional infectious disease journals. In order to ascertain whether the newly selected journals were appropriate to survey a wide range of research articles, we compared the number of original articles and reviews registered in the selected journals to those in the 'Infectious Disease Category' of the Science Citation Index Expanded™ (SCI Infectious Disease Category) during 1998-2006. Subsequently, we applied the newly selected journals to survey the number of original articles and reviews originating from 11 Asian countries during the same period. Results One hundred journals, written in English or 7 non-English languages, were newly selected as infectious disease journals. The journals published 14,156 original articles and reviews of Asian origin and 118,158 throughout the world, more than those registered in the SCI Infectious Disease Category (4,621 of Asian origin and 66,518 of the world in the category). In Asian trend analysis of the 100 journals, Japan had the highest percentage of original articles and reviews in the area, and no noticeable increase in articles was revealed during the study period. China, India and Taiwan had relatively large numbers and a high increase rate of original articles among Asian countries. When adjusting the publication of original articles according to the country population and the gross domestic product (GDP), Singapore and Taiwan were the most

  17. Dietary fiber intake reduces risk of inflammatory bowel disease: result from a meta-analysis.

    Science.gov (United States)

    Liu, Xiaoqin; Wu, Yili; Li, Fang; Zhang, Dongfeng

    2015-09-01

    Several epidemiological investigations have been conducted to evaluate the relationship between dietary fiber intake and inflammatory bowel diseases, but the results are inconsistent. This meta-analysis was performed to quantitatively summarize the evidence from observational studies. PubMed, Embase, and Web of Knowledge were searched for relevant articles published up to November 2014. The combined relative risks were calculated with the fixed- or random-effects model. Dose-response relationship was assessed using restricted cubic spline model. We hypothesized that the meta-analysis could yield a summary effect, which would indicate that dietary fiber intake could decrease the risk of ulcerative colitis and Crohn disease (CD). Overall, 8 articles involving 2 cohort studies, 1 nested case-control study, and 5 case-control studies were finally included in this study. The pooled relative risks with 95% confidence intervals of ulcerative colitis and CD for the highest vs lowest categories of dietary fiber intake were 0.80 (0.64-1.00) and 0.44 (0.29-0.69), respectively. A linear dose-response relationship was found between dietary fiber and CD risk, and the risk of CD decreased by 13% (P fiber intake. The results from this meta-analysis indicated that the intake of dietary fiber was significantly associated with a decreased risk of inflammatory bowel disease.

  18. Analysis of group ICA-based connectivity measures from fMRI: application to Alzheimer's disease.

    Directory of Open Access Journals (Sweden)

    Shanshan Li

    Full Text Available Functional magnetic resonance imaging (fMRI is a powerful tool for the in vivo study of the pathophysiology of brain disorders and disease. In this manuscript, we propose an analysis stream for fMRI functional connectivity data and apply it to a novel study of Alzheimer's disease. In the first stage, spatial independent component analysis is applied to group fMRI data to obtain common brain networks (spatial maps and subject-specific mixing matrices (time courses. In the second stage, functional principal component analysis is utilized to decompose the mixing matrices into population-level eigenvectors and subject-specific loadings. Inference is performed using permutation-based exact logistic regression for matched pairs data. The method is applied to a novel fMRI study of Alzheimer's disease risk under a verbal paired associates task. We found empirical evidence of alternative ICA-based metrics of connectivity when comparing subjects evidencing mild cognitive impairment relative to carefully matched controls.

  19. Proteomic analysis of papaya (Carica papaya L.) displaying typical sticky disease symptoms.

    Science.gov (United States)

    Rodrigues, Silas P; Ventura, José A; Aguilar, Clemente; Nakayasu, Ernesto S; Almeida, Igor C; Fernandes, Patricia M B; Zingali, Russolina B

    2011-07-01

    Papaya (Carica papaya L.) hosts the only described laticifer-infecting virus (Papaya meleira virus, PMeV), which is the causal agent of papaya sticky disease. To understand the systemic effects of PMeV in papaya, we conducted a comprehensive proteomic analysis of leaf samples from healthy and diseased plants grown under field conditions. First, a reference 2-DE map was established for proteins from healthy samples. A total of 486 reproducible spots were identified, and MALDI-TOF-MS/MS data identified 275 proteins accounting for 159 distinct proteins from 231 spots that were annotated. Second, the differential expression of proteins from healthy and diseased leaves was determined through parallel experiments, using 2-DE and DIGE followed by MALDI-TOF-MS/MS and LC-IonTrap-MS/MS, respectively. Conventional 2-DE analysis revealed 75 differentially expressed proteins. Of those, 48 proteins were identified, with 26 being upregulated (U) and 22 downregulated (D). In general, metabolism-related proteins were downregulated, and stress-responsive proteins were upregulated. This expression pattern was corroborated by the results of the DIGE analysis, which identified 79 differentially expressed proteins, with 23 identified (17 U and 6 D). Calreticulin and the proteasome subunits 20S and RPT5a were shown to be upregulated during infection by both 2-DE and DIGE analyses. These data may help shed light on plant responses against stresses and viral infections.

  20. A comparative proteome analysis of hippocampal tissue from schizophrenic and Alzheimer's disease individuals.

    Science.gov (United States)

    Edgar, P F; Schonberger, S J; Dean, B; Faull, R L; Kydd, R; Cooper, G J

    1999-03-01

    The proteins expressed by a genome have been termed the proteome. Comparative proteome analysis of brain tissue offers a novel means to identify biologically significant gene products that underlie psychopathology. In this study we collected post mortem hippocampal tissue from the brains of seven schizophrenic, seven Alzheimer's disease (AD) and seven control individuals. Hippocampal proteomes were visualised by two-dimensional gel electrophoresis of homogenised tissue. A mean of 549 (s.d. 35) proteins were successfully matched between each disease group and the control group. In comparison with the control hippocampal proteome, eight proteins in the schizophrenic hippocampal proteome were found to be decreased and eight increased in concentration, whereas, in the AD hippocampal proteome, 35 proteins were decreased and 73 were increased in concentration (Pdiazepam binding inhibitor (DBI) by N-terminal sequence analysis. DBI can regulate the action of the GABA(A) receptor. Protein changes involved 6% of the assessed AD hippocampal proteome, whereas, in schizophrenia protein changes involved less than 1% of the assessed hippocampal proteome. We conclude that schizophrenia has a subtle neuropathological presentation and comparative proteome analysis is a viable means by which to investigate diseases of the brain at the molecular level.

  1. A geomatic methodology for spatio-temporal analysis of climatologic variables and water related diseases

    Science.gov (United States)

    Quentin, E.; Gómez Albores, M. A.; Díaz Delgado, C.

    2009-04-01

    The main objective of this research is to propose, by the way of geomatic developments, an integrated tool to analyze and model the spatio-temporal pattern of human diseases related to environmental conditions, in particular the ones that are linked to water resources. The geomatic developments follows four generic steps : requirement analysis, conceptual modeling, geomatic modeling and implementation (in Idrisi GIS software). A first development consists of the preprocessing of water, population and health data in order to facilitate the conversion and validation of tabular data into the required structure for spatio-temporal analysis. Three parallel developments follow : water balance, demographic state and evolution, epidemiological measures (morbidity and mortality rates, diseases burden). The new geomatic modules in their actual state have been tested on various regions of Mexico Republic (Lerma watershed, Chiapas state) focusing on diarrhea and vector borne diseases (dengue and malaria) and considering records over the last decade : a yearly as well as seasonal spreading trend can be observed in correlation with precipitation and temperature data. In an ecohealth perspective, the geomatic approach results particularly appropriate since one of its purposes is the integration of the various spatial themes implied in the study problem, environmental as anthropogenic. By the use of powerful spatial analysis functions, it permits the detection of spatial trends which, combined to the temporal evolution, can be of particularly use for example in climate change context, if sufficiently valid historical data can be obtain.

  2. Carrier detection and early diagnosis of Wilson's disease by restriction fragment length polymorphism analysis.

    Science.gov (United States)

    Figus, A; Lampis, R; Devoto, M; Ristaldi, M S; Ideo, A; de Virgilis, S; Nurchi, A M; Corrias, A; Corda, R; Lai, M E

    1989-01-01

    Wilson's disease, a rare autosomal recessive disorder, has been recently mapped to the long arm of chromosome 13 (q14.1). In this study, we carried out linkage analysis between three chromosome 13 DNA markers, D13S1, D13S10, D13S2, the locus for the red cell enzyme esterase D (ESD), and the Wilson's disease locus (WND) in 17 Wilson's disease families of Italian descent, mostly from Sardinia. We confirmed a tight linkage [theta = 0.00, Z (theta) = 4.07] between the WND and ESD loci, and provided suggestive evidence for linkage [theta = 0.00, Z(theta) = 1.85] of the WND locus with D13S10. Multipoint linkage analysis indicated the following order: centromere-D13S1-D13S10-WND-ESD-D13S2. RFLP analysis at these two loci in our families allowed us either to define the carrier status (50%) or to exclude the homozygous state (25%) in the great majority of unaffected sibs. PMID:2563776

  3. HDL subfractions analysis: a new laboratory diagnostic assay for patients with cardiovascular diseases and dyslipoproteinemia.

    Science.gov (United States)

    Oravec, Stanislav; Dostal, Elisabeth; Dukát, Andrej; Gavorník, Peter; Kucera, Marek; Gruber, Kristína

    2011-01-01

    The HDL family forms a protective part of plasma lipoproteins. It consists of large HDL, intermediate HDL, and small HDL subclasses. The large HDL and intermediate HDL subclasses are considered anti-atherogenic parts of the HDL family. The atherogenicity of the small HDL subclass is currently the subject of much discussion. In the patient group with the diagnosis of cardiovascular disease (arterial hypertension, coronary heart disease) and in individuals with a non-atherogenic hypercholesterolemia, a type of lipoprotein profile (either a non-atherogenic phenotype A, or an atherogenic phenotype B) was identified, and a concentration of small dense LDL (sdLDL) was analyzed. The aim of this study was to identify the major representative of the HDL subclasses in the individuals with cardiovascular diseases, who had an atherogenic lipoprotein phenotype B, and in the individuals with the diagnosis of non-atherogenic hyper-betalipoproteinemia LDL1,2, who had a non-atherogenic lipoprotein phenotype A. Identification of the specific lipoprotein phenotype and a quantitative analysis of small dense LDL was performed by an electrophoresis method on polyacrylamide gel (PAG), using the Lipoprint LDL system. For a quantitative analysis of HDL subclasses, i.e., large HDL, intermediatete HDL, and small HDL, in subjects with newly diagnosed cardiovascular diseases (arterial hypertension and coronary heart disease), and in subjects with a non-atherogenic hypercholesterolemia (hyper-betalipoproteinemia LDL1,2), we used an innovative electrophoresis method on polyacrylamide gel (PAG), the Lipoprint HDL system. With regard to lipids, total cholesterol and triglycerides in plasma were analyzed by an enzymatic CHOD PAP method. A control group consisted of a group of healthy normolipidemic volunteers without signs of clinically manifested impairment of the cardiovascular system. In the patient group with the diagnosis of arterial hypertension (pdisease (pcardiovascular diseases), the large

  4. [Characteristics and drug analysis associated with vertigo disease in real world].

    Science.gov (United States)

    Xie, Qian; Li, Yuan-Yuan; Xie, Yan-Ming; Yang, Wei; Zhao, Wei; Zhuang, Yan; Wang, Yong-Yan

    2014-09-01

    To explore the characteristics and influenced factors associated with the onset of vertigo disease, analysis of 3 719 cases of hospitalized patients with vertigo disease from the real world. Analysis the date of patients diagnosed with vertigo disease from the hospital information system of 19 grade-III class-A hospital from 2004 to 2011, include general information, the doctor's advice, other diseases combined, diagnostic information and the relationship with the onset of 24 solar terms, and the treatment drugs. The median age of hospitalized patients with vertigo disease was 59, the number of women (65.91%) was more than men (34.09%), manual workers (85.32%) were the majority career, most patients (81.63%) condition were general by the time they were hospital admission, patients more like admitted to neurologist (70.34%) when they first time to outpatient serves, hospitalization days were in 8-14 days (46.65%), 46.04% of the patients in the hospital total cost is in 5 000 RMB to 10 000 RMB, 73.86% of patients paid by National Health Medical Insurance. Hypertension (20.79%) was the most common underlying health problems, The most common syndromes was deficiency of liver-Yin and kidney-Yin(44. 21%) , followed by hyperactivity of liver-yang, disease of phlegm turbidity in mongolia and deficiency of Qi and blood. There were more deficiency syndrome and less excess syndrome. The highest rate of hospital admission solar terms in 2009 was the insects awaken throttle (5.21%), In 2010, the highest rate solar terms of hospital admission was the rain throttle (6.14%). The most frequently used traditional Chinese medicine was gastrodine injection (20.55%), the most frequently used western medicine for betahistine (10.19%), gastrodine injection was the most traditional Chinese medicine that combination with other western medicine. Hypertension was the most underlying health problems in the patients with vertigo disease in the real world, although the mental factors should

  5. Preliminary analysis of mortality associated with rituximab use in autoimmune diseases.

    Science.gov (United States)

    Shetty, Shawn; Ahmed, A R

    2013-12-01

    Normal antibodies and pathogenic autoantibodies are produced by B-cells and plasma cells. Rituximab is a chimeric monoclonal antibody that targets the CD20 molecule on cells that express them on their surface and kills them. Rituximab has been increasingly used to treat several autoimmune diseases. Studies on fatal outcomes associated with rituximab therapy are lacking. A comprehensive and detailed analysis in which the multiple factors that could contribute to a fatal outcome in all the autoimmune diseases in which rituximab has been used would be cumbersome, lack uniformity and would prove difficult in making certain definitive conclusions and comparisons, but more importantly it would not allow to provide specific precautions and recommendations to prevent mortality. Hence, autoimmune mucocutaneous blistering diseases (AMBD) were used as model to study fatal outcomes in patients treated with rituximab between 2000 and 2013, using uniform 13 criteria. Fatal outcomes were found in 14 patients with autoimmune blistering diseases out of 134 patients (10.4%). Patients died due to infections (75%), gastrointestinal (17%) and cardiac events (8%). Causes of death were reported in 101 patients with other autoimmune diseases out of 4320 with a mortality rate of 2.4%. Among them, 44 patients (43.6%) died from infections. A statistical analysis of the data demonstrated that a statistically significant higher mortality rate was observed in patients with AMBD compared to patients with other autoimmune diseases. Similarly, a statistically significant higher rate of death due to infections was reported in patients with AMBD compared to patients with other autoimmune diseases. Use of systemic corticosteroids and immunosuppressive agents as concomitant therapy with rituximab enhanced immunosuppression. In many patients, B-cells were depleted for prolonged periods, even after clinical recovery was observed. Although its main action is depletion of B-cells, rituximab has a

  6. Application of quantitative proteomic analysis using tandem mass tags for discovery and identification of novel biomarkers in periodontal disease.

    Science.gov (United States)

    Tsuchida, Sachio; Satoh, Mamoru; Kawashima, Yusuke; Sogawa, Kazuyuki; Kado, Sayaka; Sawai, Setsu; Nishimura, Motoi; Ogita, Mayumi; Takeuchi, Yasuo; Kobyashi, Hiroaki; Aoki, Akira; Kodera, Yoshio; Matsushita, Kazuyuki; Izumi, Yuichi; Nomura, Fumio

    2013-08-01

    Periodontal disease is a bacterial infection that destroys the gingiva and surrounding tissues of the oral cavity. Gingival crevicular fluid (GCF) is extracted from the gingival sulcus and pocket. Analysis of biochemical markers in GCF, which predict the progression of periodontal disease, may facilitate disease diagnosis. However, no useful GCF biochemical markers with high sensitivity for detecting periodontal disease have been identified. Thus, the search for biochemical markers of periodontal disease is of continued interest in experimental and clinical periodontal disease research. Using tandem mass tag (TMT) labeling, we analyzed GCF samples from healthy subjects and patients with periodontal disease, and identified a total of 619 GCF proteins based on proteomic analysis. Of these, we focused on two proteins, matrix metalloproteinase (MMP)-9 and neutrophil gelatinase-associated lipocalin (LCN2), which are involved in the progression of periodontal disease. Western blot analysis revealed that the levels of MMP-9 and LCN2 were significantly higher in patients with periodontal disease than in healthy subjects. In addition, ELISA also detected significantly higher levels of LCN2 in patients with periodontal disease than in healthy subjects. Thus, LC-MS/MS analyses of GCF using TMT labeling led to the identification of LCN2, which may be a promising GCF biomarker for the detection of periodontal disease.

  7. Clinical heterogeneity in patients with early-stage Parkinson's disease: a cluster analysis

    Institute of Scientific and Technical Information of China (English)

    Ping LIU; Tao FENG; Yong-jun WANG; Xuan ZHANG; Biao CHEN

    2011-01-01

    The aim of this study was to investigate the clinical heterogeneity of Parkinson's disease (PD) among a cohort of Chinese patients in early stages.Clinical data on demographics,motor variables,motor phenotypes,disease progression,global cognitive function,depression,apathy,sleep quality,constipation,fatigue,and L-dopa complications were collected from 138 Chinese PD subjects in early stages (Hoehn and Yahr stages 1-3).The PD subject subtypes were classified using k-means cluster analysis according to the clinical data from five- to three-cluster consecutively.Kappa statistical analysis was performed to evaluate the consistency among different subtype solutions.The cluster analysis indicated four main subtypes:the non-tremor dominant subtype (NTD,n=28,20.3%),rapid disease progression subtype (RDP,n=7,5.1%),young-onset subtype (YO,n=50,36.2%),and tremor dominant subtype (TD,n=53,38.4%).Overall,78.3% (108/138) of subjects were always classified between the same three groups (52 always in TD,7 in RDP,and 49 in NTD),and 98.6% (136/138) between five- and four-cluster solutions.However,subjects classified as NTD in the four-cluster analysis were dispersed into different subtypes in the three-cluster analysis,with low concordance between four- and three-cluster solutions (kappa value=-0.139,P=0.001 ).This study defines clinical heterogeneity of PD patients in early stages using a data-driven approach.The subtypes generated by the four-cluster solution appear to exhibit ideal internal cohesion and external isolation.

  8. Diagnosis of alpha-1-antitrypsin deficiency by DNA analysis of children with liver disease

    Directory of Open Access Journals (Sweden)

    De TOMMASO Adriana Maria Alves

    2001-01-01

    Full Text Available Background - Alpha-1-antitrypsin deficiency is a genetic disorder which is transmitted in a co-dominant, autosomal form. Alpha-1-antitrypsin deficiency affects mainly the lungs and the liver leading, in the latter case, to neonatal cholestasis, chronic hepatitis or cirrhosis. A precise diagnosis of Alpha-1-antitrypsin deficiency may be obtained by biochemical or molecular analysis. Objective - The purpose of this study was to use DNA analysis to examine the presence of an alpha-1-antitrypsin deficiency in 12 children suspected of having this deficiency and who showed laboratory and clinical characteristics of the disease. Patients and Methods - Twelve patients, aged 3 months to 19 years, who had serum alpha-1-antitrypsin levels lower than normal and/or had hepatic disease of undefined etiology were studied. The mutant alleles S and Z of the alpha-1-antitrypsin gene were investigated in the 12 children. Alpha-1-antitrypsin gene organization was analyzed by amplification of genoma through the polymerase chain reaction and digestion with the restriction enzymes Xmnl (S allele and Taq 1 (Z allele. Results - Seven of the 12 patients had chronic liver disease of undefined etiology and the other five patients had low serum levels of alpha-1-antitrypsin as well as a diagnosis of neonatal cholestasis and/or chronic liver disease of undefined etiology. Five of the 12 patients were homozygous for the Z allele (ZZ and two had the S allele with another allele (*S different from Z. Conclusion - These results show that alpha-1-antitrypsin deficiency is relatively frequent in children with chronic hepatic disease of undefined etiology and/or low alpha-1-antitrypsin levels (41.6%. A correct diagnosis is important for effective clinical follow-up and for genetic counseling.

  9. Novel thermal imaging analysis technique for detecting inflammation in thyroid eye disease.

    Science.gov (United States)

    Di Maria, Costanzo; Allen, John; Dickinson, Jane; Neoh, Christopher; Perros, Petros

    2014-12-01

    The disease phase in thyroid eye disease (TED) is commonly assessed by clinical investigation of cardinal signs of inflammation and using the clinical activity score (CAS). Although CAS is the current gold standard, the clinical assessment would benefit if a more objective tool were available. The aim of this work was to explore the clinical value of a novel thermal imaging analysis technique to objectively quantify the thermal characteristics of the eye and peri-orbital region and determine the disease phase in TED. This was a cross-sectional study comparing consecutive patients with active TED (CAS ≥ 3/7) attending a tertiary center, with a group of consecutive patients with inactive TED (CAS Thermal images were acquired from 30 TED patients, 17 with active disease and 13 with inactive disease. Patients underwent standard ophthalmological clinical assessments and thermal imaging. Five novel thermal eye parameters (TEP) were developed to quantify the thermal characteristics of the eyes in terms of the highest level of inflammation (TEP1), overall level of inflammation (TEP2), right-left asymmetry in the level of inflammation (TEP3), maximum temperature variability across the eyes (TEP4), and right-left asymmetry in the temperature variability (TEP5). All five TEP were increased in active TED. TEP1 gave the largest accuracy (77%) at separating the two groups, with 65% sensitivity and 92% specificity. A statistical model combining all five parameters increased the overall accuracy, compared to using only one parameter, to 93% (94% sensitivity and 92% specificity). All five of the parameters were also found to be increased in patients with chemosis compared to those without. The potential diagnostic value of this novel thermal imaging analysis technique has been demonstrated. Further investigation on a larger group of patients is necessary to confirm these results.

  10. Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.

    Science.gov (United States)

    Dichgans, Martin; Malik, Rainer; König, Inke R; Rosand, Jonathan; Clarke, Robert; Gretarsdottir, Solveig; Thorleifsson, Gudmar; Mitchell, Braxton D; Assimes, Themistocles L; Levi, Christopher; O'Donnell, Christopher J; Fornage, Myriam; Thorsteinsdottir, Unnur; Psaty, Bruce M; Hengstenberg, Christian; Seshadri, Sudha; Erdmann, Jeanette; Bis, Joshua C; Peters, Annette; Boncoraglio, Giorgio B; März, Winfried; Meschia, James F; Kathiresan, Sekar; Ikram, M Arfan; McPherson, Ruth; Stefansson, Kari; Sudlow, Cathie; Reilly, Muredach P; Thompson, John R; Sharma, Pankaj; Hopewell, Jemma C; Chambers, John C; Watkins, Hugh; Rothwell, Peter M; Roberts, Robert; Markus, Hugh S; Samani, Nilesh J; Farrall, Martin; Schunkert, Heribert

    2014-01-01

    Ischemic stroke (IS) and coronary artery disease (CAD) share several risk factors and each has a substantial heritability. We conducted a genome-wide analysis to evaluate the extent of shared genetic determination of the two diseases. Genome-wide association data were obtained from the METASTROKE, Coronary Artery Disease Genome-wide Replication and Meta-analysis (CARDIoGRAM), and Coronary Artery Disease (C4D) Genetics consortia. We first analyzed common variants reaching a nominal threshold of significance (Pstroke (LAS) subtype. Common variants associated with CAD at Pgenetic risk of IS and particularly the LAS subtype with CAD.

  11. Serum Vitamin D Level and Rheumatoid Arthritis Disease Activity: Review and Meta-Analysis

    Science.gov (United States)

    Lin, Jin; Liu, Jian; Davies, Michael L.; Chen, Weiqian

    2016-01-01

    Background The evidence from epidemiological studies concerning the relationship between serum vitamin D concentrations and rheumatoid arthritis (RA) is inconsistent. This meta-analysis is aimed at determining the magnitude of the correlation between this common autoimmune disease and vitamin D, an important nutrient known to dampen adaptive immune responses. Methods Through multiple search strategies, relevant literature was identified and evaluated for quality before May 16 2015. Data extracted from eligible studies was synthesized to calculate pooled correlation coefficient (r), mean difference (MD) and odds ratio (OR). The Venice criteria were applied to assess the credibility of the evidence for each statistically significant association. Results A total of 24 reports involving 3489 patients were selected for analysis. RA patients had lower vitamin D levels than healthy controls (MD:-16.52 nmol/L, 95% confidence intervals [CI]:-18.85 to -14.19 nmol/L). There existed a negative relationship between serum 25-hydroxyvitamin D (25OHD) level and disease activity index, e.g. 25OHD vs. Disease Activity Score in 28 joints (DAS28): r = -0.13, 95% CI -0.16 to -0.09; 25OHD vs. C-reactive protein: r = -0.12, 95% CI -0.23 to -0.00. Additionally, latitude-stratified subgroup analysis yielded a relatively stronger negative correlation between 25OHD and DAS28 in low-latitude areas. This inverse relationship also appeared more significant in developing countries than in developed countries. No publication bias was detected. Conclusion RA patients had lower vitamin D values than healthy controls. There was a negative association between serum vitamin D and RA disease activity. However, more strictly controlled studies are needed to validate these findings. PMID:26751969

  12. The Prevalence of Juvenile Huntington's Disease: A Review of the Literature and Meta-Analysis.

    Science.gov (United States)

    Quarrell, Oliver; O'Donovan, Kirsty L; Bandmann, Oliver; Strong, Mark

    2012-07-20

    Juvenile Huntington's disease (JHD) is usually defined as Huntington's disease with an onset ≤ 20 years. The proportion of JHD cases reported in studies of Huntington's disease (HD) varies. A review of the literature found 62 studies that reported the proportion of JHD cases amongst all HD cases. The proportion of JHD cases in these studies ranged from 1% to 15%, and in a meta-analysis the pooled proportion of JHD cases was 4.92% (95% confidence interval of 4.07% to 5.84%). Limiting the analysis to the 25 studies which used multiple methods of ascertainment resulted in a similar pooled proportion of 5.32%, (95% confidence interval 4.18% to 6.60%). A small difference was observed when the meta-analysis was restricted to studies from countries defined by the World Bank as high income, that used multiple methods of ascertainment, and that were conducted since 1980 (4.81%, 95% confidence interval 3.31% to 6.58%, n=11). This contrasts with the pooled result from three post 1980 studies using multiple methods of ascertainment from South Africa and Venezuela, defined by the World Bank as upper middle income, where the estimated mean proportion was 9.95%, (95% confidence interval 6.37% to 14.22%). These results, which are expected to be more robust than those from a single study alone, may be helpful in estimating the proportion of JHD cases in a given population. Key Words: Juvenile Huntington's disease, prevalence, epidemiology.

  13. Using phase II data for the analysis of phase III studies: An application in rare diseases.

    Science.gov (United States)

    Wandel, Simon; Neuenschwander, Beat; Röver, Christian; Friede, Tim

    2017-06-01

    Clinical research and drug development in orphan diseases are challenging, since large-scale randomized studies are difficult to conduct. Formally synthesizing the evidence is therefore of great value, yet this is rarely done in the drug-approval process. Phase III designs that make better use of phase II data can facilitate drug development in orphan diseases. A Bayesian meta-analytic approach is used to inform the phase III study with phase II data. It is particularly attractive, since uncertainty of between-trial heterogeneity can be dealt with probabilistically, which is critical if the number of studies is small. Furthermore, it allows quantifying and discounting the phase II data through the predictive distribution relevant for phase III. A phase III design is proposed which uses the phase II data and considers approval based on a phase III interim analysis. The design is illustrated with a non-inferiority case study from a Food and Drug Administration approval in herpetic keratitis (an orphan disease). Design operating characteristics are compared to those of a traditional design, which ignores the phase II data. An analysis of the phase II data reveals good but insufficient evidence for non-inferiority, highlighting the need for a phase III study. For the phase III study supported by phase II data, the interim analysis is based on half of the patients. For this design, the meta-analytic interim results are conclusive and would justify approval. In contrast, based on the phase III data only, interim results are inconclusive and require further evidence. To accelerate drug development for orphan diseases, innovative study designs and appropriate methodology are needed. Taking advantage of randomized phase II data when analyzing phase III studies looks promising because the evidence from phase II supports informed decision-making. The implementation of the Bayesian design is straightforward with public software such as R.

  14. Adaptation and Evaluation of a Multi-Criteria Decision Analysis Model for Lyme Disease Prevention.

    Science.gov (United States)

    Aenishaenslin, Cécile; Gern, Lise; Michel, Pascal; Ravel, André; Hongoh, Valérie; Waaub, Jean-Philippe; Milord, François; Bélanger, Denise

    2015-01-01

    Designing preventive programs relevant to vector-borne diseases such as Lyme disease (LD) can be complex given the need to include multiple issues and perspectives into prioritizing public health actions. A multi-criteria decision aid (MCDA) model was previously used to rank interventions for LD prevention in Quebec, Canada, where the disease is emerging. The aim of the current study was to adapt and evaluate the decision model constructed in Quebec under a different epidemiological context, in Switzerland, where LD has been endemic for the last thirty years. The model adaptation was undertaken with a group of Swiss stakeholders using a participatory approach. The PROMETHEE method was used for multi-criteria analysis. Key elements and results of the MCDA model are described and contrasted with the Quebec model. All criteria and most interventions of the MCDA model developed for LD prevention in Quebec were directly transferable to the Swiss context. Four new decision criteria were added, and the list of proposed interventions was modified. Based on the overall group ranking, interventions targeting human populations were prioritized in the Swiss model, with the top ranked action being the implementation of a large communication campaign. The addition of criteria did not significantly alter the intervention rankings, but increased the capacity of the model to discriminate between highest and lowest ranked interventions. The current study suggests that beyond the specificity of the MCDA models developed for Quebec and Switzerland, their general structure captures the fundamental and common issues that characterize the complexity of vector-borne disease prevention. These results should encourage public health organizations to adapt, use and share MCDA models as an effective and functional approach to enable the integration of multiple perspectives and considerations in the prevention and control of complex public health issues such as Lyme disease or other vector

  15. Circulating vitamin D, calcium and risk of cerebrovascular disease: a systematic review and meta-analysis.

    Science.gov (United States)

    Chowdhury, Rajiv; Stevens, Sarah; Ward, Heather; Chowdhury, Susmita; Sajjad, Ayesha; Franco, Oscar H

    2012-08-01

    Available literature suggests that both vitamin D and calcium may be associated with a wide range of non-skeletal outcomes. However, epidemiological evidence supporting their individual associations with incident cerebrovascular disease is scarce. We conducted a systematic review and meta-analysis of prospective cohort studies, published before February 2012 and sought from MEDLINE, EMBASE, BIOSIS and the Science Citation Index databases, and reported cerebrovascular disease (defined as any fatal or non-fatal ischemic stroke, hemorrhagic stroke, cerebrovascular accident or transient ischemic attack) by circulating vitamin D (25-hydroxy vitamin D [25(OH)D] as active metabolite) and calcium levels. Two independent investigators abstracted information on 25(OH)D and calcium, cerebrovascular outcomes and other characteristics from selected studies. Relative risks (RRs) were pooled by both random and fixed effects meta-analyses and were further examined under different study-level characteristics. Publication bias was assessed with funnel plots and Egger's asymmetry test. From 5,778 initial references, nine unique prospective cohort studies met our inclusion criteria. Seven studies (involving 47,809 participants and 926 cerebrovascular events) focused on circulating 25(OH)D and 3 reported on circulating calcium (22,577 participants and 727 events). For 25(OH)D, in a comparison of individuals in the top third versus those in the bottom third at baseline, the combined RR for cerebrovascular disease, adjusted for several conventional risk factors, was 0.60 (95 % CI 0.48, 0.72). The corresponding RR in the prospective studies that reported on baseline circulating calcium levels for cerebrovascular disease was 1.40 (95 % CI 1.19, 1.64). There was no apparent evidence of heterogeneity or publication bias among included studies. Available data indicate that higher circulating level of vitamin D is associated with a decreased risk of cerebrovascular disease. Conversely

  16. Proteomic Analysis of Disease Stratified Human Pancreas Tissue Indicates Unique Signature of Type 1 Diabetes.

    Science.gov (United States)

    Burch, Tanya C; Morris, Margaret A; Campbell-Thompson, Martha; Pugliese, Alberto; Nadler, Jerry L; Nyalwidhe, Julius O

    2015-01-01

    Type 1 diabetes (T1D) and type 2 diabetes (T2D) are associated with functional beta cell loss due to ongoing inflammation. Despite shared similarities, T1D is an autoimmune disease with evidence of autoantibody production, as well as a role for exocrine pancreas involvement. Our hypothesis is that differential protein expression occurs in disease stratified pancreas tissues and regulated proteins from endocrine and exocrine tissues are potential markers of disease and potential therapeutic targets. The study objective was to identify novel proteins that distinguish the pancreas from donors with T1D from the pancreas from patients with T2D, or autoantibody positive non-diabetic donors. Detailed quantitative comprehensive proteomic analysis was applied to snap frozen human pancreatic tissue lysates from organ donors without diabetes, with T1D-associated autoantibodies in the absence of diabetes, with T1D, or with T2D. These disease-stratified human pancreas tissues contain exocrine and endocrine tissues (with dysfunctional islets) in the same microenvironment. The expression profiles of several of the proteins were further verified by western blot. We identified protein panels that are significantly and uniquely upregulated in the three disease-stratified pancreas tissues compared to non-disease control tissues. These proteins are involved in inflammation, metabolic regulation, and autoimmunity, all of which are pathways linked to, and likely involved in, T1 and T2 diabetes pathogenesis. Several new proteins were differentially upregulated in prediabetic, T1D, and T2D pancreas. The results identify proteins that could serve as novel prognostic, diagnostic, and therapeutic tools to preserve functional islet mass in Type 1 Diabetes.

  17. A mixed treatment comparison meta-analysis of antibiotic treatments for bovine respiratory disease.

    Science.gov (United States)

    O'Connor, Annette M; Coetzee, Johann F; da Silva, Natalia; Wang, Chong

    2013-06-01

    In this publication we use mixed treatment comparison meta-analysis to compare the efficacy of antibiotic treatments for bovine respiratory disease in beef cattle. Studies were eligible for the meta-analysis if they were publically available and reported the assessment of antibiotic protocols registered for use in the United States (US) for bovine respiratory disease (BRD) in beef cattle and were conducted in North America. Three electronic databases, the proceedings of two bovine specific conferences, pharmaceutical company web sites and the US Food and Drug Administration website were searched to identify relevant trials. The network of evidence used in the analysis contained 194 trial arms from 93 trials. Of the 93 trials there were 8 with three arms. The network of evidence contained information for 12 antibiotics. The output from the analysis provided information about the risk ratio comparing all possible treatments for BRD including comparisons based only on indirect data. The output also included a relative ranking of the treatments and estimates of the probability that an antibiotic protocol was the worst treatment option.

  18. Polycystic ovary syndrome (PCOS) and the risk of coronary heart disease (CHD): a meta-analysis

    Science.gov (United States)

    Zhao, Luqian; Zhu, Zhigang; Lou, Huiling; Zhu, Guodong; Huang, Weimin; Zhang, Shaogang; Liu, Feng

    2016-01-01

    Some studies reported a significant association between polycystic ovary syndrome (PCOS) and risk of cardiovascular disease (CVD). However, the results are controversial. A systematic search was conducted in the PubMed, Science Direct, EMBASE, and Cochrane Library databases. Five case-control studies and 5 cohort studies were selected, involving a total of 104392 subjects in this meta-analysis. PCOS was significantly associated with the increased risk of CVD (OR = 1.30; 95% CI 1.09 – 1.56; P = 0.004). In the subgroup analysis of study design, both case-control studies and prospective cohort studies showed significant results (OR = 1.79; 95% CI 1.16 – 2.77; P = 0.009; OR = 1.20; 95% CI 1.06 – 1.37; P = 0.005), while retrospective cohort studies did not show positive result (OR = 0.91; 95% CI 0.60 – 1.40; P = 0.68). In a further stratified analysis by type of CVD, a significant association was found between PCOS and coronary heart disease (CHD) (OR = 1.44; 95% CI 1.13 – 1.84; P = 0.004). However, no significant association was observed between PCOS and myocardial infarction (MI) (OR = 1.01; 95% CI 0.68 – 1.51; P = 0.95). In conclusion, this meta-analysis suggested that PCOS is significantly associated with increased CHD risk. PMID:27220885

  19. Polycystic ovary syndrome (PCOS) and the risk of coronary heart disease (CHD): a meta-analysis.

    Science.gov (United States)

    Zhao, Luqian; Zhu, Zhigang; Lou, Huiling; Zhu, Guodong; Huang, Weimin; Zhang, Shaogang; Liu, Feng

    2016-06-01

    Some studies reported a significant association between polycystic ovary syndrome (PCOS) and risk of cardiovascular disease (CVD). However, the results are controversial. A systematic search was conducted in the PubMed, Science Direct, EMBASE, and Cochrane Library databases. Five case-control studies and 5 cohort studies were selected, involving a total of 104392 subjects in this meta-analysis. PCOS was significantly associated with the increased risk of CVD (OR = 1.30; 95% CI 1.09 - 1.56; P = 0.004). In the subgroup analysis of study design, both case-control studies and prospective cohort studies showed significant results (OR = 1.79; 95% CI 1.16 - 2.77; P = 0.009; OR = 1.20; 95% CI 1.06 - 1.37; P = 0.005), while retrospective cohort studies did not show positive result (OR = 0.91; 95% CI 0.60 - 1.40; P = 0.68). In a further stratified analysis by type of CVD, a significant association was found between PCOS and coronary heart disease (CHD) (OR = 1.44; 95% CI 1.13 - 1.84; P = 0.004). However, no significant association was observed between PCOS and myocardial infarction (MI) (OR = 1.01; 95% CI 0.68 - 1.51; P = 0.95). In conclusion, this meta-analysis suggested that PCOS is significantly associated with increased CHD risk.

  20. Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci

    Science.gov (United States)

    Ellinghaus, David; Jostins, Luke; Spain, Sarah L; Cortes, Adrian; Bethune, Jörn; Han, Buhm; Park, Yu Rang; Raychaudhuri, Soumya; Pouget, Jennie G; Hübenthal, Matthias; Folseraas, Trine; Wang, Yunpeng; Esko, Tonu; Metspalu, Andres; Westra, Harm-Jan; Franke, Lude; Pers, Tune H; Weersma, Rinse K; Collij, Valerie; D'Amato, Mauro; Halfvarson, Jonas; Jensen, Anders Boeck; Lieb, Wolfgang; Degenhardt, Franziska; Forstner, Andreas J; Hofmann, Andrea; Schreiber, Stefan; Mrowietz, Ulrich; Juran, Brian D; Lazaridis, Konstantinos N; Brunak, Søren; Dale, Anders M; Trembath, Richard C; Weidinger, Stephan; Weichenthal, Michael; Ellinghaus, Eva; Elder, James T; Barker, Jonathan NWN; Andreassen, Ole A; McGovern, Dermot P; Karlsen, Tom H; Barrett, Jeffrey C; Parkes, Miles; Brown, Matthew A; Franke, Andre

    2016-01-01

    We simultaneously investigated the genetic landscape of ankylosing spondylitis, Crohn's disease, psoriasis, primary sclerosing cholangitis and ulcerative colitis to investigate pleiotropy and the relationship between these clinically related diseases. Using high-density genotype data from more than 86,000 individuals of European-ancestry we identified 244 independent multi-disease signals including 27 novel genome-wide significant susceptibility loci and 3 unreported shared risk loci. Complex pleiotropy was supported when contrasting multi-disease signals with expression data sets from human, rat and mouse, and epigenetic and expressed enhancer profiles. The comorbidities among the five immune diseases were best explained by biological pleiotropy rather than heterogeneity (a subgroup of cases that is genetically identical to another disease, possibly due to diagnostic misclassification, molecular subtypes, or excessive comorbidity). In particular, the strong comorbidity between primary sclerosing cholangitis and inflammatory bowel disease is likely the result of a unique disease, which is genetically distinct from classical inflammatory bowel disease phenotypes. PMID:26974007

  1. Physician-estimated disease severity in patients with chronic heart or lung disease: a cross-sectional analysis

    Directory of Open Access Journals (Sweden)

    Babu Ajit N

    2006-09-01

    Full Text Available Abstract Background We evaluated how well physicians' global estimates of disease severity correspond to more specific physician-rated disease variables as well as patients' self-rated health and other patient variables. Methods We analyzed baseline data from 1662 primary care patients with chronic cardiac or pulmonary disease who were enrolled in a longitudinal study of health-related quality of life (HRQoL. Each patient's primary physician rated overall disease severity, estimated the two-year risk of hospitalization and mortality, and reported the use of disease-specific medications, tests, and subspecialty referrals. Patient variables included sociodemographic characteristics, psychosocial factors, self-rated health, and both generic and disease-specific HRQoL. Results Physicians rated 40% of their patients "about average", 30% "worse", and 30% "better" than the typical patient seen with the specific target disorder. The physician's global estimate of disease severity was strongly associated (P Conclusion Physicians' global ratings may provide disease severity and prognostic information unique from and complementary to patient self-rated health and HRQoL measures. The elements influencing physician-rated disease severity and its predictive validity for clinical outcomes warrant prospective investigation.

  2. An average/deprivation/inequality (ADI) analysis of chronic disease outcomes and risk factors in Argentina

    Science.gov (United States)

    De Maio, Fernando G; Linetzky, Bruno; Virgolini, Mario

    2009-01-01

    Background Recognition of the global economic and epidemiological burden of chronic non-communicable diseases has increased in recent years. However, much of the research on this issue remains focused on individual-level risk factors and neglects the underlying social patterning of risk factors and disease outcomes. Methods Secondary analysis of Argentina's 2005 Encuesta Nacional de Factores de Riesgo (National Risk Factor Survey, N = 41,392) using a novel analytical strategy first proposed by the United Nations Development Programme (UNDP), which we here refer to as the Average/Deprivation/Inequality (ADI) framework. The analysis focuses on two risk factors (unhealthy diet and obesity) and one related disease outcome (diabetes), a notable health concern in Latin America. Logistic regression is used to examine the interplay between socioeconomic and demographic factors. The ADI analysis then uses the results from the logistic regression to identify the most deprived, the best-off, and the difference between the two ideal types. Results Overall, 19.9% of the sample reported being in poor/fair health, 35.3% reported not eating any fruits or vegetables in five days of the week preceding the interview, 14.7% had a BMI of 30 or greater, and 8.5% indicated that a health professional had told them that they have diabetes or high blood pressure. However, significant variation is hidden by these summary measures. Educational attainment displayed the strongest explanatory power throughout the models, followed by household income, with both factors highlighting the social patterning of risk factors and disease outcomes. As educational attainment and household income increase, the probability of poor health, unhealthy diet, obesity, and diabetes decrease. The analyses also point toward important provincial effects and reinforce the notion that both compositional factors (i.e., characteristics of individuals) and contextual factors (i.e., characteristics of places) are

  3. Intact-protein analysis system for discovery of serum-based disease biomarkers.

    Science.gov (United States)

    Wang, Hong; Hanash, Samir

    2011-01-01

    Profiling of serum and plasma proteins has substantial relevance to the discovery of circulating disease biomarkers. However, the extreme complexity and vast dynamic range of protein abundance in serum and plasma present a formidable challenge for protein analysis. Thus, integration of multiple technologies is required to achieve high-resolution and high-sensitivity proteomic analysis of serum or plasma. In this chapter, we describe an orthogonal multidimensional intact-protein analysis system (IPAS) (Wang et al., Mol Cell Proteomics 4:618-625, 2005) coupled with protein tagging (Faca et al., J Proteome Res 5:2009-2018, 2006) to profile the serum and plasma proteomes quantitatively, which we have applied in our biomarker discovery studies (Katayama et al., Genome Med 1:47, 2009; Faca et al., PLoS Med 5:e123, 2008; Zhang et al. Genome Biol 9:R93, 2008).

  4. Multivariate Multi-Scale Permutation Entropy for Complexity Analysis of Alzheimer’s Disease EEG

    Directory of Open Access Journals (Sweden)

    Isabella Palamara

    2012-07-01

    Full Text Available An original multivariate multi-scale methodology for assessing the complexity of physiological signals is proposed. The technique is able to incorporate the simultaneous analysis of multi-channel data as a unique block within a multi-scale framework. The basic complexity measure is done by using Permutation Entropy, a methodology for time series processing based on ordinal analysis. Permutation Entropy is conceptually simple, structurally robust to noise and artifacts, computationally very fast, which is relevant for designing portable diagnostics. Since time series derived from biological systems show structures on multiple spatial-temporal scales, the proposed technique can be useful for other types of biomedical signal analysis. In this work, the possibility of distinguish among the brain states related to Alzheimer’s disease patients and Mild Cognitive Impaired subjects from normal healthy elderly is checked on a real, although quite limited, experimental database.

  5. Bayesian analysis of diagnostic test accuracy when disease state is unverified for some subjects.

    Science.gov (United States)

    Pennello, Gene A

    2011-09-01

    Studies of the accuracy of medical tests to diagnose the presence or absence of disease can suffer from an inability to verify the true disease state in everyone. When verification is missing at random (MAR), the missing data mechanism can be ignored in likelihood-based inference. However, this assumption may not hold even approximately. When verification is nonignorably missing, the most general model of the distribution of disease state, test result, and verification indicator is overparameterized. Parameters are only partially identified, creating regions of ignorance for maximum likelihood estimators. For studies of a single test, we use Bayesian analysis to implement the most general nonignorable model, a reduced nonignorable model with identifiable parameters, and the MAR model. Simple Gibbs sampling algorithms are derived that enable computation of the posterior distribution of test accuracy parameters. In particular, the posterior distribution is easily obtained for the most general nonignorable model, which makes relatively weak assumptions about the missing data mechanism. For this model, the posterior distribution combines two sources of uncertainty: ignorance in the estimation of partially identified parameters, and imprecision due to finite sampling variability. We compare the three models on data from a study of the accuracy of scintigraphy to diagnose liver disease.

  6. Large-scale phenome analysis defines a behavioral signature for Huntington's disease genotype in mice.

    Science.gov (United States)

    Alexandrov, Vadim; Brunner, Dani; Menalled, Liliana B; Kudwa, Andrea; Watson-Johnson, Judy; Mazzella, Matthew; Russell, Ian; Ruiz, Melinda C; Torello, Justin; Sabath, Emily; Sanchez, Ana; Gomez, Miguel; Filipov, Igor; Cox, Kimberly; Kwan, Mei; Ghavami, Afshin; Ramboz, Sylvie; Lager, Brenda; Wheeler, Vanessa C; Aaronson, Jeff; Rosinski, Jim; Gusella, James F; MacDonald, Marcy E; Howland, David; Kwak, Seung

    2016-08-01

    Rapid technological advances for the frequent monitoring of health parameters have raised the intriguing possibility that an individual's genotype could be predicted from phenotypic data alone. Here we used a machine learning approach to analyze the phenotypic effects of polymorphic mutations in a mouse model of Huntington's disease that determine disease presentation and age of onset. The resulting model correlated variation across 3,086 behavioral traits with seven different CAG-repeat lengths in the huntingtin gene (Htt). We selected behavioral signatures for age and CAG-repeat length that most robustly distinguished between mouse lines and validated the model by correctly predicting the repeat length of a blinded mouse line. Sufficient discriminatory power to accurately predict genotype required combined analysis of >200 phenotypic features. Our results suggest that autosomal dominant disease-causing mutations could be predicted through the use of subtle behavioral signatures that emerge in large-scale, combinatorial analyses. Our work provides an open data platform that we now share with the research community to aid efforts focused on understanding the pathways that link behavioral consequences to genetic variation in Huntington's disease.

  7. Exogenous melatonin for sleep disorders in neurodegenerative diseases: a meta-analysis of randomized clinical trials.

    Science.gov (United States)

    Zhang, Wei; Chen, Xue-yan; Su, Su-wen; Jia, Qing-zhong; Ding, Tao; Zhu, Zhong-ning; Zhang, Tong

    2016-01-01

    The purpose of this work is to investigate the efficacy of exogenous melatonin in the treatment of sleep disorders in patients with neurodegenerative disease. We searched Pubmed, the Cochrane Library, and ClinicalTrials.gov, from inception to July 2015. We included randomized clinical trials (RCTs) that compared melatonin with placebo and that had the primary aim of improving sleep in people with neurodegenerative diseases, particularly Alzheimer's disease (AD) and Parkinson's disease (PD). We pooled data with the weighted mean difference in sleep outcomes. To assess heterogeneity in results of individual studies, we used Cochran's Q statistic and the I (2) statistic. 9 RCTs were included in this research. We found that the treatment with exogenous melatonin has positive effects on sleep quality as assessed by the Pittsburgh Sleep Quality Index (PSQI) in PD patients (MD: 4.20, 95 % CI: 0.92-7.48; P = 0.01), and by changes in PSQI component 4 in AD patients (MD: 0.67, 95 % CI: 0.04-1.30; P = 0.04), but not on objective sleep outcomes in both AD and PD patients. Treatment with melatonin effectively improved the clinical and neurophysiological aspects of rapid eye movement (REM) sleep behavior disorder (RBD), especially elderly individuals with underlying neurodegenerative disorders. This meta-analysis provided some evidence that melatonin improves sleep quality in patients with AD and PD, and melatonin can be considered as a possible sole or add-on therapy in neurodegenerative disorders patients with RBD.

  8. PIXE analysis of low concentration aluminum in brain tissues of an Alzheimer's disease patient

    Science.gov (United States)

    Ishihara, R.; Hanaichi, T.; Takeuchi, T.; Ektessabi, A. M.

    1999-06-01

    An excess accumulation and presence of metal ions may significantly alter a brain cell's normal functions. There have been increasing efforts in recent years to measure and quantify the density and distribution of excessive accumulations of constituent elements (such as Fe, Zn, Cu, and Ca) in the brain, as well as the presence and distribution of contaminating elements (such as Al). This is particularly important in cases of neuropathological disorders such as Alzheimer's disease, Parkinson's disease and ALS. The aim of this paper was to measure the Al present in the temporal cortex of the brain of an Alzheimer's disease patient. The specimens were taken from an unfixed autopsy brain which has been preserved for a period of 4 years in the deep freezer at -80 °C. Proton Induced X-ray Emission Spectroscopy was used for the measurement of Al concentration in this brain tissue. A tandem accelerator with 2 MeV of energy was also used. In order to increase the sensitivity of the signals in the low energy region of the spectra, the absorbers were removed. The results show that the peak height depends on the measurement site. However, in certain cases an extremely high concentration of Al was observed in the PIXE spectra, with an intensity higher than those in the other major elements of the brain's matrix element. Samples from tissues affected by the same disease were analyzed using the EDX analyzer. The results are quantitatively in very good agreement with those of the PIXE analysis.

  9. On the analysis of effectiveness in mass application of mosquito repellent for dengue disease prevention

    Science.gov (United States)

    Aldila, D.; Soewono, E.; Nuraini, N.

    2012-05-01

    Dengue disease has been known as one of dangerous vector-borne diseases and become serious threat in many tropical countries. With no vaccine and antiviral available until nowadays, and frequent appearance of extraordinary dengue outbreaks, many governments are forced to declare national problem for dengue. At this moment, the only method available to prevent dengue disease transmission is to combat the disease-carrying mosquitoes as well as to reduce the contact between human and mosquitoes. The fast growing dengue transmission in many countries in recent years indicates that the mosquito control programs are far from successful. The use of mosquito repellent is one possible instrument which could be used as an effective mass treatment to prevent the dengue outbreak during endemic period. Here in this paper a Susceptible-Infectious-Recovered (S-I-R) dengue transmission model with repellent mass treatment is being applied to portions of children and adult compartments. Analysis of the basic reproductive ratio (Ro) of the model is done. It is shown, with reasonable choices of portions of treated children and adults, in combination with reduction of mosquito population, the basic reproductive ratio can be significantly reduced and occurrence of endemic can be avoided. Numerical simulations are shown for various treatment scenarios.

  10. Microprobe PIXE analysis of aluminium in the brains of patients with Alzheimer's disease

    Science.gov (United States)

    Yumoto, S.; Horino, Y.; Mokuno, Y.; Kakimi, S.; Fujii, K.

    1996-04-01

    To investigate the cause of Alzheimer's disease (senile dementia), we examined aluminium (Al) in the rat liver, and in the brains (hippocampus) of Alzheimer's disease patients using heavy ion (5 MeV Si 3+) microprobe and proton (2 MeV) microprobe PIXE analysis. Heavy ion microprobes (3 MeV Si 2+) have several time's higher sensitivity for Al detection than 2 MeV proton microprobes. (1) In the rat liver, Al was detected in the cell nuclei, where phosphorus (P) was most densely distributed. (2) We also demonstrated Al in the cell nuclei isolated from Alzheimer's disease brains using heavy ion (5 MeV Si 3+) microprobes. Al spectra were detected using 2 MeV proton microprobes in the isolated brain cell nuclei. Al could not be observed in areas where P was present in relatively small amounts, or was absent. Our results indicate that Alzheimer's disease is caused by irreversible accumulation of Al in the nuclei of brain cells.

  11. Funding Infectious Disease Research: A Systematic Analysis of UK Research Investments by Funders 1997–2010

    Science.gov (United States)

    Fitchett, Joseph R.; Head, Michael G.; Cooke, Mary K.; Wurie, Fatima B.; Atun, Rifat

    2014-01-01

    Background Research investments are essential to address the burden of disease, however allocation of limited resources is poorly documented. We systematically reviewed the investments awarded by funding organisations to UK institutions and their global partners for infectious disease research. Methodology/Principal Findings Public and philanthropic investments for the period 1997 to 2010 were included. We categorised studies by infectious disease, cross-cutting theme, and by research and development value chain, reflecting the type of science. We identified 6165 funded studies, with a total research investment of UK £2.6 billion. Public organisations provided £1.4 billion (54.0%) of investments compared with £1.1 billion (42.4%) by philanthropic organisations. Global health studies represented an investment of £928 million (35.7%). The Wellcome Trust was the leading investor with £688 million (26.5%), closely followed by the UK Medical Research Council (MRC) with £673 million (25.9%). Funding over time was volatile, ranging from ∼£40 million to ∼£160 million per year for philanthropic organisations and ∼£30 million to ∼£230 million for public funders. Conclusions/Significance Infectious disease research funding requires global coordination and strategic long-term vision. Our analysis demonstrates the diversity and inconsistent patterns in investment, with volatility in annual funding amounts and limited investment for product development and clinical trials. PMID:25162631

  12. Funding infectious disease research: a systematic analysis of UK research investments by funders 1997-2010.

    Science.gov (United States)

    Fitchett, Joseph R; Head, Michael G; Cooke, Mary K; Wurie, Fatima B; Atun, Rifat

    2014-01-01

    Research investments are essential to address the burden of disease, however allocation of limited resources is poorly documented. We systematically reviewed the investments awarded by funding organisations to UK institutions and their global partners for infectious disease research. Public and philanthropic investments for the period 1997 to 2010 were included. We categorised studies by infectious disease, cross-cutting theme, and by research and development value chain, reflecting the type of science. We identified 6165 funded studies, with a total research investment of UK £2.6 billion. Public organisations provided £1.4 billion (54.0%) of investments compared with £1.1 billion (42.4%) by philanthropic organisations. Global health studies represented an investment of £928 million (35.7%). The Wellcome Trust was the leading investor with £688 million (26.5%), closely followed by the UK Medical Research Council (MRC) with £673 million (25.9%). Funding over time was volatile, ranging from ∼£40 million to ∼£160 million per year for philanthropic organisations and ∼£30 million to ∼£230 million for public funders. Infectious disease research funding requires global coordination and strategic long-term vision. Our analysis demonstrates the diversity and inconsistent patterns in investment, with volatility in annual funding amounts and limited investment for product development and clinical trials.

  13. Near infrared probes for biochemical, cellular, and whole animal analysis of disease processes

    Science.gov (United States)

    Kovar, Joy; Boveia, Vince; Chen, Huaxian; Peng, Xinzhan; Skopp, Rose; Little, Garrick; Draney, Dan; Olive, D. M.

    2009-02-01

    The study of disease processes requires a number of tools for detection of proteins and biomarkers in cell and animal based assays. Near infrared (NIR) technologies offer the advantage of high signal without interference from background producing factors such as tissues, blood, or plastics. NIR fluorescence quenching biochemical assays employing a novel NIR quencher are homogeneous and sensitive. NIR-based immunocytochemical assays offer a means of quantitatively evaluating cell signaling pathways. The technology can be extended to the development of targeted molecular imaging agents for disease analysis in animal models. We describe here model assays for each of these categories. A fluorescence quenching caspase-3 assay was developed employing a novel, broadly applicable quencher dye suitable for use with both visible and NIR dye chemistries. An NIR cell based assay is described for assessment of phosphorylation of p53 in response to a cellular stimulus. Finally, we describe the development and application of a targeted NIR optical imaging agent for monitoring tumor growth in whole animals. The NIR biochemical and cell based assays are robust with Z' factors greater than 0.7. The use of an IRDye (R)800CW-labeled cyclic RGD peptide is presented as a model for development and application of targeted imaging agents. NIR technologies are compatible with the complete spectrum of assay needs for disease analysis and therapeutic development.

  14. Gene expression analysis of peripheral cells for subclassification of pediatric inflammatory bowel disease in remission.

    Directory of Open Access Journals (Sweden)

    Pieter P E van Lierop

    Full Text Available OBJECTIVE: In current clinical practice, optimal treatment of inflammatory bowel disease (IBD aims at the induction and maintenance of clinical remission. Clinical remission is apparent when laboratory markers of inflammation are normal and clinical symptoms are absent. However, sub-clinical inflammation can still be present. A detailed analysis of the immune status during this inactive state of disease may provide a useful tool to categorize patients with clinical remission into subsets with variable states of immune activation. DESIGN: By using Affymetrix GeneChips, we analysed RNA gene expression profiles of peripheral blood leukocytes from pediatric IBD patients in clinical remission and controls. We performed (unsupervised clustering analysis of IBD-associated genes and applied Ingenuity® pathway software to identify specific molecular profiles between patients. RESULTS: Pediatric IBD patients with disease in clinical remission display heterogeneously distributed gene expression profiles that are significantly distinct from controls. We identified three clusters of IBD patients, each displaying specific expression profiles of IBD-associated genes. CONCLUSION: The expression of immune- and IBD-associated genes in peripheral blood leukocytes from pediatric IBD patients in clinical remission was different from healthy controls, indicating that sub-clinical immune mechanisms are still active during remission. As such, RNA profiling of peripheral blood may allow for non-invasive patient subclassification and new perspectives in treatment regimes of IBD patients in the future.

  15. Genetic characterization and evolutionary analysis of Newcastle disease virus isolated from domestic duck in South Korea.

    Science.gov (United States)

    Gaikwad, Satish; Kim, Ji-Ye; Lee, Hyun-Jeong; Jung, Suk Chan; Choi, Kang-Seuk

    2016-03-15

    Domestic ducks are considered a potential reservoir of Newcastle disease virus. In the study, a Newcastle disease virus (NDV) isolated from a domestic duck during surveillance in South Korea was characterized. The complete genome of the NDV isolate was sequenced, and the phylogenetic relationship to reference strains was studied. Phylogenetic analysis revealed that the strain clustered in genotype I of Class II ND viruses, has highly phylogenetic similarity to NDV strains isolated from waterfowl in China, but was distant from the viruses isolated in chickens and vaccine strains used in South Korea. Pathogenicity experiment in chickens revealed it to be a lentogenic virus. The deduced amino acid sequence of the cleavage site of the fusion (F) protein confirmed that the isolate contained the avirulent motif (112)GKQGRL(117) at the cleavage site and caused no apparent disease in chickens and ducks. With phylogeographic analysis based on fusion gene, we estimate the origin of an ancestral virus of the isolate and its sister strain located in China around 1998. It highlights the need of continuous surveillance to enhance current understanding of the molecular epidemiology and evolution of the pathogenic strains.

  16. Analysis of the contribution of HLA genes to genetic predisposition in inflammatory bowel disease

    Energy Technology Data Exchange (ETDEWEB)

    Naom, I.; Haris, I.; Hodgson, S.V.; Mathew, C.G. [and others

    1996-07-01

    Crohn disease (CD) and ulcerative colitis (UC) are chronic inflammatory bowel diseases (IBDs) of unknown etiology. First-degree relatives of IBD patients have a 10-fold increase in risk of developing the same disease, and distinct associations between specific HLA types and both CD and UC have been reported. We have evaluated the contribution of genes at the HLA locus to susceptibility in IBD by linkage analysis of highly informative microsatellite polymorphisms in 43 families with multiple affected cases. No evidence for linkage of HLA to IBD was obtained under any of the four models tested. Analysis of HLA haplotype sharing in affected relatives indicated that the relative risk to a sibling conferred by the HLA locus was 1.11 in UC and 0.75 in CD, with upper (95%) confidence limits of 2.41 and 1.37, respectively. This suggests that other genetic or environmental factors are responsible for most of the familial aggregation in IBD. 31 refs., 1 fig., 2 tabs.

  17. Determining if disease management saves money: an introduction to meta-analysis.

    Science.gov (United States)

    Linden, Ariel; Adams, John L

    2007-06-01

    Disease management (DM) programmes have long been promoted as a major medical cost-saving mechanism, even though the scant research that exists on the topic has provided conflicting results. In a 2004 literature review, the Congressional Budget Office stated that 'there is insufficient evidence to conclude that disease management programs can generally reduce the overall cost of health care services'. To address this question more accurately, a meta-analysis was warranted. Meta-analysis is the quantitative technique used to pool the results of many studies on the same topic and summarize them statistically. This method is also quite suitable for individual DM firms to assess whether their programmes are effective at the aggregate level. This paper describes the elements of a rigorous meta-analytic process and discusses potential biases. A hypothetical DM organization is then evaluated with a specific emphasis on medical cost-savings, simulating a case in which different populations are served, evaluation methodologies are employed, and diseases are managed.

  18. Associations between Folate and Vitamin B12 Levels and Inflammatory Bowel Disease: A Meta-Analysis.

    Science.gov (United States)

    Pan, Yun; Liu, Ya; Guo, Haizhuo; Jabir, Majid Sakhi; Liu, Xuanchen; Cui, Weiwei; Li, Dong

    2017-04-13

    Inflammatory bowel disease (IBD) patients may be at risk of vitamin B12 and folate insufficiencies, as these micronutrients are absorbed in the small intestine, which is affected by IBD. However, a consensus has not been reached on the association between IBD and serum folate and vitamin B12 concentrations. In this study, a comprehensive search of multiple databases was performed to identify studies focused on the association between IBD and serum folate and vitamin B12 concentrations. Studies that compared serum folate and vitamin B12 concentrations between IBD and control patients were selected for inclusion in the meta-analysis. The main outcome was the mean difference in serum folate and vitamin B12 concentrations between IBD and control patients. Our findings indicated that the average serum folate concentration in IBD patients was significantly lower than that in control patients, whereas the mean serum vitamin B12 concentration did not differ between IBD patients and controls. In addition, the average serum folate concentration in patients with ulcerative colitis (UC) but not Crohn's disease (CD) was significantly lower than that in controls. This meta-analysis identified a significant relationship between low serum folate concentration and IBD. Our findings suggest IBD may be linked with folate deficiency, although the results do not indicate causation. Thus, providing supplements of folate and vitamin B12 to IBD patients may improve their nutritional status and prevent other diseases.

  19. [Replicative association analysis of genetic markers of cognitive traits with Alzheimer's disease in a Russian population].

    Science.gov (United States)

    Stepanov, V A; Bocharova, A V; Marusin, A V; Zhukova, N G; Alifirova, V M; Zhukova, I A

    2014-01-01

    Replicative association analysis of Alzheimer's disease (AD) with 15 genetic markers associated with cognitive traits in genome-wide association studies was performed. In a Russian populations associations of rs2616984 in CSMD1 gene with AD (OR = 1.50, 95% CI = 1.07-2.09, p-value = 0.018) and putative associations with the disease of rs3131296 in NOTCH4 gene (OR = 1.53, 95% CI = 0.98-2.39, p-value = 0.06) and rs2229741 of NRIP1 gene (OR = 1.35, CI = 0.99-1.85, p-value = 0.061) were revealed. Combinations of epistatic interacting genes (CSMD1 and NRIP1; NOTCH4, CSMD1 and NRIP1; TLR4, CSMD1 and NRIP1) were found, as well as their genotypes combinations significantly associated with AD and characterized by highest predictive values. Probable molecular mechanisms implicated in the relation of genes under study to AD pathogenesis are discussed. Bioinformatic analysis of biological processes, molecular functions and protein-protein interactions of BA genes demonstrated that genes under study may play modulating and modifying role by participation in various regulatory and signal pathways involved in a disease development.

  20. Independent component analysis of DTI data reveals white matter covariances in Alzheimer's disease

    Science.gov (United States)

    Ouyang, Xin; Sun, Xiaoyu; Guo, Ting; Sun, Qiaoyue; Chen, Kewei; Yao, Li; Wu, Xia; Guo, Xiaojuan

    2014-03-01

    Alzheimer's disease (AD) is a progressive neurodegenerative disease with the clinical symptom of the continuous deterioration of cognitive and memory functions. Multiple diffusion tensor imaging (DTI) indices such as fractional anisotropy (FA) and mean diffusivity (MD) can successfully explain the white matter damages in AD patients. However, most studies focused on the univariate measures (voxel-based analysis) to examine the differences between AD patients and normal controls (NCs). In this investigation, we applied a multivariate independent component analysis (ICA) to investigate the white matter covariances based on FA measurement from DTI data in 35 AD patients and 45 NCs from the Alzheimer's Disease Neuroimaging Initiative (ADNI) database. We found that six independent components (ICs) showed significant FA reductions in white matter covariances in AD compared with NC, including the genu and splenium of corpus callosum (IC-1 and IC-2), middle temporal gyral of temporal lobe (IC-3), sub-gyral of frontal lobe (IC-4 and IC-5) and sub-gyral of parietal lobe (IC-6). Our findings revealed covariant white matter loss in AD patients and suggest that the unsupervised data-driven ICA method is effective to explore the changes of FA in AD. This study assists us in understanding the mechanism of white matter covariant reductions in the development of AD.

  1. Analysis of Clonostachys rosea-induced resistance to tomato gray mold disease in tomato leaves.

    Directory of Open Access Journals (Sweden)

    Liana Dalcantara Ongouya Mouekouba

    Full Text Available Tomato gray mold disease, caused by Botrytis cinerea, is a serious disease in tomato. Clonostachys rosea is an antagonistic microorganism to B. cinerea. To investigate the induced resistance mechanism of C. rosea, we examined the effects of these microorganisms on tomato leaves, along with changes in the activities of three defense enzymes (PAL, PPO, GST, second messengers (NO, H2O2, O2(- and phytohormones (IAA, ABA, GA3, ZT, MeJA, SA and C2H4. Compared to the control, all treatments induced higher levels of PAL, PPO and GST activity in tomato leaves and increased NO, SA and GA3 levels. The expression of WRKY and MAPK, two important transcription factors in plant disease resistance, was upregulated in C. rosea- and C. rosea plus B. cinerea-treated samples. Two-dimensional gel electrophoresis analysis showed that two abundant proteins were present in the C. rosea plus B. cinerea-treated samples but not in the other samples. These proteins were determined (by mass spectrum analysis to be LEXYL2 (β-xylosidase and ATP synthase CF1 alpha subunit. Therefore, C. rosea plus B. cinerea treatment induces gray mold resistance in tomato. This study provides a basis for elucidating the mechanism of C. rosea as a biocontrol agent.

  2. In silico analysis of cacao (Theobroma cacao L.) genes that involved in pathogen and disease responses

    Science.gov (United States)

    Agung, Muhammad Budi; Budiarsa, I. Made; Suwastika, I. Nengah

    2017-02-01

    Cocoa bean is one of the main commodities from Indonesia for the world, which still have problem regarding yield degradation due to pathogens and disease attack. Developing robust cacao plant that genetically resistant to pathogen and disease attack is an ideal solution in over taking on this problem. The aim of this study was to identify Theobroma cacao genes on database of cacao genome that homolog to response genes of pathogen and disease attack in other plant, through in silico analysis. Basic information survey and gene identification were performed in GenBank and The Arabidopsis Information Resource database. The In silico analysis contains protein BLAST, homology test of each gene's protein candidates, and identification of homologue gene in Cacao Genome Database using data source "Theobroma cacao cv. Matina 1-6 v1.1" genome. Identification found that Thecc1EG011959t1 (EDS1), Thecc1EG006803t1 (EDS5), Thecc1EG013842t1 (ICS1), and Thecc1EG015614t1 (BG_PPAP) gene of Cacao Genome Database were Theobroma cacao genes that homolog to plant's resistance genes which highly possible to have similar functions of each gene's homologue gene.

  3. Using linkage analysis to detect gene-gene interaction by stratifying family data on known disease, or disease-associated, alleles.

    Directory of Open Access Journals (Sweden)

    Barbara Corso

    Full Text Available Detecting gene-gene interaction in complex diseases is a major challenge for common disease genetics. Most interaction detection approaches use disease-marker associations and such methods have low power and unknown reliability in real data. We developed and tested a powerful linkage-analysis-based gene-gene interaction detection strategy based on conditioning the family data on a known disease-causing allele or disease-associated marker allele. We computer-generated multipoint linkage data for a disease caused by two epistatically interacting loci (A and B. We examined several two-locus epistatic inheritance models: dominant-dominant, dominant-recessive, recessive-dominant, recessive-recessive. At one of the loci (A, there was a known disease-related allele. We stratified the family data on the presence of this allele, eliminating family members who were without it. This elimination step has the effect of raising the "penetrance" at the second locus (B. We then calculated the lod score at the second locus (B and compared the pre- and post-stratification lod scores at B. A positive difference indicated interaction. We also examined if it was possible to detect interaction with locus B based on a disease-marker association (instead of an identified disease allele at locus A. We also tested whether the presence of genetic heterogeneity would generate false positive evidence of interaction. The power to detect interaction for a known disease allele was 60-90%. The probability of false positives, based on heterogeneity, was low. Decreasing linkage disequilibrium between the disease and marker at locus A decreased the likelihood of detecting interaction. The allele frequency of the associated marker made little difference to the power.

  4. Risk factors for Parkinson disease and the path analysis: One-to-one paired design

    Institute of Scientific and Technical Information of China (English)

    Xianhua Tan

    2007-01-01

    BACKGROUND: Parkinson disease (PD) results from the reduce of neurotransmitter dopamine that transmits intracellular information in brain caused by some reasons, then leads to the dynamic disequilibrium with another neurotransmitter of acetylcholine which is relatively hyperactive. The main causes for PD are still unclear.OBJECTIVE: To screen out the risk factors of PD by means of univariate analysis and multivariate Logistic regression analysis, and investigate the manner of actions between various factors and PD, so as to provide clues for the etiological study of PD.DESIGN: A paired design, Logistic regression analysis, path analysis.SETTING: Department of Scientific Research, Shandong Institute of Physical Education.PARTICIPANTS: Totally 157 PD patients were selected from the Department of Neurology, Qilu Hospital of Shandong University from November 2001 to October 2002. Inclusive criteria: PD was diagnosed according to the standard set by the Fourth National Seminar on Extrapyramidal Disease, Parkinsonian syndromes caused by stroke, carbon monoxide poisoning, encephalitis, drugs, etc. were excluded. Another 157 patients treated in the same department at the same period were selected as the control group, they were the same in sex as those in the patient group, within 3 years older or younger than those in the patient group,and without PD or other extrapyramidal diseases.social behavioral factor, environmental factor, genetic factor, life events, and previous disease; There were 12 main variables, including educational level, family history, mental labour, contact to insecticides, living place before school-age, smoking index, drinking index, tea-drinking index, history of brain trauma, history of SPSS 10.0 software were used in the conditional Logistic regression analysis and path analysis respectively.MAIN OUTCOME MEASURES: The results of 12-variable univariate and multivariate analyses;Correlation between main variables and PD; Effects of the factors.analysis

  5. [Analysis on theses of the Chinese Journal of Parasitology and Parasitic Diseases in 2009-2012].

    Science.gov (United States)

    Yi, Feng-Yun; Qu, Lin-Ping; Yan, He; Sheng, Hui-Feng

    2013-12-01

    The published articles at the Chinese Journal of Parasitology and Parasitic Diseases in 2009-2012 were statistically analyzed. Among 547 papers published in the four years, original articles occupied 45.3% (248/547). The number of authors was 2712, with an average cooperation degree of 5.0, and the co-authorship accounted for 95.4% of the papers. Authors were mainly from colleges/universities (51.9%, 284/547), institutions for disease control (34.4%, 188/547) and hospitals health centers (13.7%, 75/547). The average publishing delay was 212, 141, 191 and 207 d in 2009-2012. Statistical analysis reflected the characteristics and academic level for improving the quality of the journal, and revealed the latest development and trends.

  6. Case Report: Whole-exome analysis of a child with polycystic kidney disease and ventriculomegaly.

    Science.gov (United States)

    Nabhan, M M; Abdelaziz, H; Xu, Y; El Sayed, R; Santibanez-Koref, M; Soliman, N A; Sayer, J A

    2015-04-17

    Autosomal recessive polycystic kidney disease (ARPKD) is an inherited ciliopathy leading to progressive kidney and liver disease. Biallelic mutations in the PKHD1 gene underlie this condition. We describe a child with bilaterally enlarged cystic kidneys, portal hypertension, and cerebral ventriculomegaly. Molecular genetic investigations using whole-exome sequencing and confirmation using Sanger sequencing revealed a homozygous pathogenic mutation in PKHD1 underlying the clinical phenotype of ARPKD. Whole-exome data analysis was used to search for additional rare variants in additional ciliopathy genes that may have contributed to the unusual brain phenotype. Aside from a rare hypomorphic allele in MKS1, no other pathogenic variants were detected. We conclude that the homozygous pathogenic mutation in PKHD1 underlies the ciliopathy phenotype in this patient.

  7. Varying total population enhances disease persistence: Qualitative analysis on a diffusive SIS epidemic model

    Science.gov (United States)

    Li, Huicong; Peng, Rui; Wang, Feng-Bin

    2017-01-01

    This paper performs qualitative analysis on an SIS epidemic reaction-diffusion system with a linear source in spatially heterogeneous environment. The main feature of our model lies in that its total population number varies, compared to its counterpart proposed by Allen et al. [2]. The uniform bounds of solutions are derived, based on which, the threshold dynamics in terms of the basic reproduction number is established and the global stability of the unique endemic equilibrium is discussed when spatial environment is homogeneous. In particular, the asymptotic profile of endemic equilibria is determined if the diffusion rate of the susceptible or infected population is small or large. The theoretical results show that a varying total population can enhance persistence of infectious disease, and therefore the disease becomes more threatening and harder to control.

  8. Reconstructability analysis as a tool for identifying gene-gene interactions in studies of human diseases.

    Science.gov (United States)

    Shervais, Stephen; Kramer, Patricia L; Westaway, Shawn K; Cox, Nancy J; Zwick, Martin

    2010-01-01

    There are a number of common human diseases for which the genetic component may include an epistatic interaction of multiple genes. Detecting these interactions with standard statistical tools is difficult because there may be an interaction effect, but minimal or no main effect. Reconstructability analysis (RA) uses Shannon's information theory to detect relationships between variables in categorical datasets. We applied RA to simulated data for five different models of gene-gene interaction, and find that even with heritability levels as low as 0.008, and with the inclusion of 50 non-associated genes in the dataset, we can identify the interacting gene pairs with an accuracy of > or =80%. We applied RA to a real dataset of type 2 non-insulin-dependent diabetes (NIDDM) cases and controls, and closely approximated the results of more conventional single SNP disease association studies. In addition, we replicated prior evidence for epistatic interactions between SNPs on chromosomes 2 and 15.

  9. Further analysis of previously implicated linkage regions for Alzheimer's disease in affected relative pairs

    Directory of Open Access Journals (Sweden)

    Lannfelt Lars

    2009-12-01

    Full Text Available Abstract Background Genome-wide linkage studies for Alzheimer's disease have implicated several chromosomal regions as potential loci for susceptibility genes. Methods In the present study, we have combined a selection of affected relative pairs (ARPs from the UK and the USA included in a previous linkage study by Myers et al. (Am J Med Genet, 2002, with ARPs from Sweden and Washington University. In this total sample collection of 397 ARPs, we have analyzed linkage to chromosomes 1, 9, 10, 12, 19 and 21, implicated in the previous scan. Results The analysis revealed that linkage to chromosome 19q13 close to the APOE locus increased considerably as compared to the earlier scan. However, linkage to chromosome 10q21, which provided the strongest linkage in the previous scan could not be detected. Conclusion The present investigation provides yet further evidence that 19q13 is the only chromosomal region consistently linked to Alzheimer's disease.

  10. Molecular Infectious Disease Epidemiology: Survival Analysis and Algorithms Linking Phylogenies to Transmission Trees.

    Science.gov (United States)

    Kenah, Eben; Britton, Tom; Halloran, M Elizabeth; Longini, Ira M

    2016-04-01

    Recent work has attempted to use whole-genome sequence data from pathogens to reconstruct the transmission trees linking infectors and infectees in outbreaks. However, transmission trees from one outbreak do not generalize to future outbreaks. Reconstruction of transmission trees is most useful to public health if it leads to generalizable scientific insights about disease transmission. In a survival analysis framework, estimation of transmission parameters is based on sums or averages over the possible transmission trees. A phylogeny can increase the precision of these estimates by providing partial information about who infected whom. The leaves of the phylogeny represent sampled pathogens, which have known hosts. The interior nodes represent common ancestors of sampled pathogens, which have unknown hosts. Starting from assumptions about disease biology and epidemiologic study design, we prove that there is a one-to-one correspondence between the possible assignments of interior node hosts and the transmission trees simultaneously consistent with the phylogeny and the epidemiologic data on person, place, and time. We develop algorithms to enumerate these transmission trees and show these can be used to calculate likelihoods that incorporate both epidemiologic data and a phylogeny. A simulation study confirms that this leads to more efficient estimates of hazard ratios for infectiousness and baseline hazards of infectious contact, and we use these methods to analyze data from a foot-and-mouth disease virus outbreak in the United Kingdom in 2001. These results demonstrate the importance of data on individuals who escape infection, which is often overlooked. The combination of survival analysis and algorithms linking phylogenies to transmission trees is a rigorous but flexible statistical foundation for molecular infectious disease epidemiology.

  11. An analysis of the NIH-supported sickle cell disease research portfolio.

    Science.gov (United States)

    Gavini, Nara; Hoots, W Keith; Mensah, George A; Hanspal, Manjit

    2015-02-01

    Sickle cell disease (SCD), an inherited blood disorder is due to a single amino acid substitution on the beta chain of hemoglobin, and is characterized by anemia, severe infections, acute and chronic pain, and multi-organ damage. The National Institutes of Health (NIH) is dedicated to support basic, translational and clinical science research to improve care and ultimately, to find a cure for SCD that causes such suffering. This report provides a detailed analysis of grants funded by the NIH for SCD research in Fiscal Years 2007 through 2013. During this period, the NIH supported 247 de novo grants totaling $272,210,367 that address various aspects of SCD. 83% of these funds supported research project grants investigating the following 5 scientific themes: Pathology of Sickle Red Blood Cells; Globin Gene Expression; Adhesion and Vascular Dysfunction; Neurological Complications and Organ-specific Dysfunction; and Pain Management and Intervention. The remaining 17% of total funds supported career development and training grants; Small Business Innovation Research (SBIR) and Small Business Technology Transfer (STTR) grants; large Center grants; and Conference grants. Further analysis showed that the National Heart, Lung, and Blood Institute (NHLBI) is the largest funder of SCD research within NIH with 67% of total grants, contributing 77% of total funds; followed by the National Institute for Digestive Diseases and Kidney (NIDDK) that is funding 19% of grants, contributing 13% of total funds. The remaining 14% of grants totaling 10% of the funds were supported by all other NIH Institutes/Centers (ICs) combined. In summary, the NIH is using multiple funding mechanisms to support a sickle cell disease research agenda that is intended to advance the detection, treatment, and cure of this debilitating genetic