Treatment of recurrent pilonidal cysts with nd-YAG laser: report of our experience.

PubMed

Dragoni, F; Moretti, S; Cannarozzo, G; Campolmi, P

2018-02-01

Surgical treatment remains the first-line therapy of pilonidal cyst but is associated with high levels of postoperative pain, adverse events and a recurrence rate of 30%. We report our experience with laser hair removal using the Nd-YAG laser for the treatment of pilonidal cyst. Ten patients affected by pilonidal cyst were examined and treated from October 2011 to November 2016. Treatments were carried out using the Nd-YAG laser (Deka M.E.L.A, Calenzano, Florence, Italy) at a wavelength of 1064 nm at 30-day interval. Nine patients were asymptomatic after the second treatment, while in one case the symptom disappeared after the fourth session. After 4-8 treatments, the pilonidal cyst had clinically disappeared and patients subjectively felt healed. In all cases, the soft-tissue ultrasounds performed before the first and after the last session showed the disappearance of the pilonidal cyst. In the follow-up, all the patients remained asymptomatic without any disease recurrence. Nd-YAG laser is an effective treatment for pilonidal cysts, providing excellent results with quick healing and no risk of serious adverse side-effects. It could be a very attractive alternative to open surgery, enabling patients to prevent the frequent and severe postoperative issues associated with surgery.

Pilonidal Cyst

MedlinePlus

... for prolonged periods of time, such as truck drivers, are at higher risk of developing a pilonidal ... common in people in their 20s) Obesity Inactive lifestyle Occupation requiring prolonged sitting Excess body hair Stiff ...

Modified off-midline closure of pilonidal sinus disease.

PubMed

Saber, Aly

2014-05-01

Numerous surgical procedures have been described for pilonidal sinus disease, but treatment failure and disease recurrence are frequent. Conventional off-midline flap closures have relatively favorable surgical outcomes, but relatively unfavorable cosmetic outcomes. The author reported outcomes of a new simplified off-midline technique for closure of the defect after complete excision of the sinus tracts. Two hundred patients of both sexes were enrolled for modified D-shaped excisions were used to include all sinuses and their ramifications, with a simplified procedure to close the defect. The overall wound infection rate was 12%, (12.2% for males and 11.1% for females). Wound disruption was necessitating laying the whole wound open and management as open technique. The overall wound disruption rate was 6%, (6.1% for males and 5.5% for females) and the overall recurrence rate was 7%. Our simplified off-midline closure without flap appeared to be comparable to conventional off-midline closure with flap, in terms of wound infection, wound dehiscence, and recurrence. Advantages of the simplified procedure include potentially reduced surgery complexity, reduced surgery time, and improved cosmetic outcome.

Early experience of the use of fibrin sealant in the management of children with pilonidal sinus disease.

PubMed

Smith, Caroline Mary; Jones, Abigail; Dass, Dipankar; Murthi, Govind; Lindley, Richard

2015-02-01

The use of fibrin sealant in the management of pilonidal sinus disease has not previously been described in children. We present our experience of primary pit excision and use of fibrin sealant (PEF) and compare outcomes with lateralising flap procedures (LFP). A single centre retrospective case note review of all children who had undergone a definitive procedure for pilonidal sinus from August 2006 to Dec 2013 was performed using data expressed as median (range) and compared using Fisher's exact test. P<0.05 was regarded as significant. Forty-one children were identified having undergone 49 procedures, with median age 15 (12-16 years) and follow up 32 (8-92) months. Groups were comparable for disease severity. Ten children underwent primary PEF and twenty-six LFP. Two children had recurrence following primary PEF and had repeat PEF which was curative. Overall recurrence rates following PEF procedure were comparable to LFP (17% vs 21%; P=1.0). There were no wound dehiscences in the PEF group and one wound infection. There was one wound dehiscence and one wound infection in the LFP group. Median operative time for PEF was lower than LFP (20 vs 60 min, P=0.001). 83% of PEF procedures were performed as day cases. One child was lost to follow up, and two children progressed to adult services. We recommend PEF in children with pilonidal sinus disease as primary treatment and for recurrence. PEF has comparable recurrence and wound infection rates to LFPs, is performed as day case, has shorter anaesthetic times, and the risk of wound dehiscence is avoided. Copyright © 2015 Elsevier Inc. All rights reserved.

Distal scar-to-midline distance in pilonidal Limberg flap surgery is a recurrence-promoting factor: A multicenter, case-control study.

PubMed

Kaplan, Mehmet; Ozcan, Onder; Bilgic, Ethem; Kaplan, Elif Tugce; Kaplan, Tugba; Kaplan, Fatma Cigdem

2017-11-01

The Limberg flap (LF) procedure is widely performed for the treatment of sacrococcygeal pilonidal sinus (SPS); however, recurrences continues to be observed. The aim of this study was to assess the relationship between LF designs and the risk of SPS recurrence. Sixty-one cases with recurrent disease (study group) and 194 controls, with a minimum of 5 recurrence-free years following surgery (control group), were included in the study. LF reconstructions performed in each group were classified as off-midline closure (OMC) and non-OMC types. Subsequently, the 2 groups were analyzed. After adjustment for all variables, non-OMC types showed the most prominent correlation with recurrence, followed by interrupted suturing type, family history of SPS, smoking, prolonged healing time, and younger age. The best cut-off value for the critical distance from the midline was found to be 11 mm (with 72% sensitivity and 95% specificity for recurrence). We recommend OMC modifications, with the flap tailored to create a safe margin of at least 2 cm between the flap borders and the midline. Copyright © 2017 Elsevier Inc. All rights reserved.

Sacrococcygeal teratoma: a literature review.

PubMed

Penny, Steven M

2012-01-01

To review the current and relevant literature pertaining to the origin, imaging, and treatment for the sacrococcygeal teratoma in order to obtain information beneficial for radiologic technologists. Both peer-reviewed articles and contemporary imaging textbooks were used in the research for this review. The material was analyzed further for practical and instructive components for imaging professionals. The inquiry regarding the origin, imaging, and treatment of the sacrococcygeal teratoma yielded important facts and clinically useful information that radiologic technologists can use. Because the sacrococcygeal teratoma is the most common congenital tumor found in newborns, all imaging professionals who may be asked to actively or indirectly care for a patient diagnosed with the condition should have a fundamental knowledge of the origin, imaging, and treatment of this potentially fatal tumor.

Pilonidal abscess in the breast: a case report

PubMed Central

Lahiri, Rashmi; Mullen, Russell; Ashton, Mark A.; Abbott, Nick C.; Pollock, Anne Marie

2014-01-01

Pilonidal sinus is a common entity, most often occurring in the natal cleft. Pilonidal sinus with abscess formation has also been described in hairdressers in the interdigital space. We report a case of pilonidal abscess of the breast in a hairdresser, a rarely reported site, which requires awareness on the clinician's part of this occupational risk, for appropriate management and post-surgery advice on prevention. It is particularly important to impart such information to the reporting pathologist who is key to making this histological diagnosis. PMID:24950682

Modified Off-Midline Closure of Pilonidal Sinus Disease

PubMed Central

Saber, Aly

2014-01-01

Background: Numerous surgical procedures have been described for pilonidal sinus disease, but treatment failure and disease recurrence are frequent. Conventional off-midline flap closures have relatively favorable surgical outcomes, but relatively unfavorable cosmetic outcomes. Aim: The author reported outcomes of a new simplified off-midline technique for closure of the defect after complete excision of the sinus tracts. Patients and Methods: Two hundred patients of both sexes were enrolled for modified D-shaped excisions were used to include all sinuses and their ramifications, with a simplified procedure to close the defect. Results: The overall wound infection rate was 12%, (12.2% for males and 11.1% for females). Wound disruption was necessitating laying the whole wound open and management as open technique. The overall wound disruption rate was 6%, (6.1% for males and 5.5% for females) and the overall recurrence rate was 7%. Conclusion: Our simplified off-midline closure without flap appeared to be comparable to conventional off-midline closure with flap, in terms of wound infection, wound dehiscence, and recurrence. Advantages of the simplified procedure include potentially reduced surgery complexity, reduced surgery time, and improved cosmetic outcome. PMID:24926445

Pilonidal sinus in Japan maritime self-defense force at Yokosuka.

PubMed

Chijiwa, Tsuyoshi; Suganuma, Toshiyuki; Takigawa, Toshimichi; Edogawa, Seiji; Inoue, Kimitoshi; Yanagida, Shigeki; Hatada, Junichi

2006-07-01

Pilonidal sinus is known to be common among soldiers but not among Asian individuals. Few reports have discussed the occurrence of pilonidal sinus in the navy. We analyzed the incidence and etiological factors of 12 cases (11 patients, with 1 recurrence) of pilonidal sinus diagnosed between 1998 and 2004 in Japan Self-Defense Force Hospital Yokosuka. All patients were male, and all lesions were in the sacral area. The patients' average age and body mass index were 29.1 years and 27.4, respectively. The surgical procedures used were primary closures (10 cases, 83.3%) and flaps (two cases, 16.7%), and the number of postoperative hospital days averaged 11.8. Pilonidal sinus was not found to be significantly common among Japan Self-Defense Force personnel in general (7 of 11 patients with pilonidal sinus; not significant); however, it was significantly more common among the crew members of Japan Self-Defense Force ships (seven of seven patients; p < 0.05), which suggests that the on-board lifestyle contributes to the occurrence of pilonidal sinus.

Comparison of surgical Limberg flap technique and crystallized phenol application in the treatment of pilonidal sinus disease: a retrospective study

PubMed Central

Akan, Kaan; Tihan, Deniz; Duman, Uğur; Özgün, Yiğit; Erol, Fatih; Polat, Murat

2013-01-01

Objective: This study was designed to compare the efficacy of crystallized phenol method with Limberg flap in pilonidal sinus treatment. Material and Methods: Patients with a diagnosis of pilonidal sinus disease treated with surgical excision + Limberg rhomboid flap technique and crystallized phenol method between 2010–2011 in the Şevket Yılmaz Training and Research Hospital, Department of General Surgery were evaluated retrospectively. Patients’ age, sex, length of hospital stay, complications and recurrence rates were evaluated. Results: Eighty eight percent of patients were male and mean age was 26.84±6.41 in the Limberg group, and 24.72±5.00 in the crystallized phenol group. Sinus orifice locations and nature, and duration of symptoms before surgery were similar in the two groups. Length of hospital stay in the Limberg group was 1.46±0.61 days; whereas all patients in the crystallized phenol group were discharged on the same day. Infection, hematoma, wound dehiscence, and cosmetic problems were significantly higher in the Limberg group. There was no difference between the two groups in terms of recurrence and seroma formation. Conclusion: The less invasive method of crystallized phenol application may be an alternative approach to rhomboid excision and Limberg flap in patients with non-complicated pilonidal sinus disease, yielding acceptable recurrence rates. PMID:25931870

Pediatric Endoscopic Pilonidal Sinus Treatment, a Revolutionary Technique to Adopt in Children with Pilonidal Sinus Fistulas: Our Preliminary Experience.

PubMed

Esposito, Ciro; Izzo, Serena; Turrà, Francesco; Cerulo, Mariapina; Severino, Giovanni; Settimi, Alessandro; Iannazzone, Marta; Masieri, Lorenzo; Cortese, Giuseppe; Escolino, Maria

2018-03-01

This study aimed to report our preliminary experience with pediatric endoscopic pilonidal sinus treatment (PEPSiT). We retrospectively reviewed the reports of 15 patients, 6 girls and 9 boys, with an average age of 16 years (range 13-18) with noninfected pilonidal sinus disease who underwent PEPSiT in our institution over an 18-month period. Four cases were redo-procedures, for recurrence of disease after open excision repair. Surgical outcomes of sinus healing, recurrence of disease, postoperative pain, hospital stay, analgesic requirements, and patient satisfaction levels were evaluated and a comparison analysis with classic open repair was performed. All procedures were performed under subarachnoid spinal anesthesia. We always adopted a fistuloscope, an endoscopic forceps, and a monopolar electrode to remove the hairs and to heal the fistula. The average length of surgery was 28.5 minutes (range 26-41). No intraoperative or postoperative complications were reported. The average pain score evaluated using Visual Analogue Scale (VAS) pain scale during the first 48 postoperative hours was 3.2 (range 2-5). The average analgesic requirement was 22 hours (range 16-28). The average hospital stay length was 28 hours (range 22-48). They changed dressing daily, by applying a topical solution of eosin 2% and a silver sulfadiazine spray. At 1 month postoperatively, the external openings were closed in all patients and no recurrence was recorded at a mean follow-up of 6 month. PEPSiT was associated with a significantly shorter, painless, and better outcome compared to open technique. On the basis of our preliminary experience, we believe that PEPSiT is a promising technique for surgical treatment of pilonidal sinus in children. It is technically easy and quick to perform, with a short and painless hospital stay, without recurrences in our series. It allows operated patients an early return to full daily activities without restrictions that happen for the classic treatment.

Outcomes of endoscopic pilonidal sinus treatment (EPSiT): a systematic review.

PubMed

Tien, T; Athem, R; Arulampalam, T

2018-05-31

Pilonidal sinus is a common disease of the natal cleft, which can lead to complications including infection and abscess formation. Various operative management options are available, but the ideal technique is still debatable. More recently minimally invasive approaches have been described. Our aim was to review the current literature on endoscopic pilonidal sinus treatment (EPSiT) and its outcomes. A systematic literature review was conducted and reported in accordance to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. A search of EMBASE, MEDLINE and Cochrane Library was conducted in November 2017. Full-text studies on the use of endoscopy for the treatment of pilonidal sinus were included in the review. Initial search results returned 52 articles. Eight studies (eight case series and one randomised control trial) were included in the final qualitative synthesis. These studies demonstrated that EPSiT has good complete healing rates and low recurrence rates. There was also a high level of patient satisfaction and little time taken off work. Two studies reported modifications to the original technique. The main limitation was the lack of comparative studies. Initial studies on EPSiT have shown promising results. However, there is a need for a standardised technique and more comparative studies to validate this novel procedure.

Does pilonidal abscess heal quicker with off-midline incision and drainage?

PubMed

Webb, P M; Wysocki, A P

2011-06-01

No clinical trials have been done to guide the surgeon in the optimal technique of draining a pilonidal abscess. The aim of our study was to investigate whether the location of the incision influences wound healing. Electronic records from the surgical database at our 200-bed district general hospital were reviewed for operative technique (midline vs. lateral) for patients who underwent incision and drainage for acute pilonidal abscess between January 2003 and February 2010. These patients were admitted from the Emergency Department with a pilonidal abscess, underwent operative drainage, and returned for follow-up. The main outcome measure was wound healing time. Two hundred and forty-three pilonidal abscesses were drained, 134 with a lateral and 74 with a midline incision. All patients underwent simple longitudinal incision. No patient underwent de-roofing, marsupialisation, or closure. Forty-eight patients with midline drainage who returned for follow-up were matched for gender, age, and microbiology culture results with patients who underwent lateral drainage. Almost all were drained under general anesthesia with a median postoperative stay of 1 day. The overall length of follow-up was the same in both groups (P = 0.13). Abscesses that did not heal were followed-up for the same period of time irrespective of incision type (P = 0.48). Abscesses that healed after midline incision took approximately 3 weeks longer than those drained via a lateral incision (P = 0.02). Our study has limitations since it was a retrospective study that did not capture patients whose abscess drained spontaneously or were drained in the emergency department. Pilonidal abscess should be drained away from the midline.

Magnetic Resonance Imaging Verification of a Case of Sacrococcygeal Teratoma.

PubMed

Dedushi, Kreshnike; Kabashi, Serbeze; Mucaj, Sefedin; Ramadani, Naser; Hoxhaj, Astrit; Shatri, Jeton; Hasbahta, Gazmend

2016-08-01

Although rare, sacrococcygeal teratoma is the most common congenital neoplasm, occurring in 1 in 40,000 infants. Approximately 75% of affected infants are female. The aim of the present study was to correlate ultrasonography and magnetic resonance imaging (MRI) findings in patients with fetal sacrococcygeal teratoma. Three pregnant women in 27th week of gestation underwent fetal MRI after ultrasonography examination, with findings suggestive for fetal sacrococcygeal teratoma. Tumor size, location, extent and content were evaluated both by MRI and ultrasonography. Findings regarding tumor location, size and content were similar for both methods. There was a large well-circumscribed mixed, cystic/solid oval mass, originating from right sacro-gluteal region and projecting into the amniotic cavity, 132 × 110 × 76 mm in size. The mass had a heterogeneous appearance. The T1 high signal suggested fat component of the tumor, while T1 and T2 hypointense components suggested calcified/bony components. There was also T1 hypointense component consistent with cystic and fluid component. The imaging findings were characteristic for sacrococcygeal teratoma. There was not obvious lumbar or thoracic spinal involvement. There was no gross intrapelvic or abdominal extension, and even sacrum and coccyx appeared deformed. The amount of amniotic fluid was increased. MRI was superior to ultrasonography in the evaluation of the exact tumor extent, accurately demonstrating pelvic involvement in all of the three cases. Fetal MRI has shown to be a valuable adjunct to obstetric sonography in the evaluation of fetal sacrococcygeal teratoma, because of its higher accuracy in the determination of tumors extent and content, playing a significant role in the therapeutic planning and increasing the chances of cure for these fetuses.

Magnetic Resonance Imaging Verification of a Case of Sacrococcygeal Teratoma

PubMed Central

Dedushi, Kreshnike; Kabashi, Serbeze; Mucaj, Sefedin; Ramadani, Naser; Hoxhaj, Astrit; Shatri, Jeton; Hasbahta, Gazmend

2016-01-01

Although rare, sacrococcygeal teratoma is the most common congenital neoplasm, occurring in 1 in 40,000 infants. Approximately 75% of affected infants are female. The aim of the present study was to correlate ultrasonography and magnetic resonance imaging (MRI) findings in patients with fetal sacrococcygeal teratoma. Three pregnant women in 27th week of gestation underwent fetal MRI after ultrasonography examination, with findings suggestive for fetal sacrococcygeal teratoma. Tumor size, location, extent and content were evaluated both by MRI and ultrasonography. Findings regarding tumor location, size and content were similar for both methods. There was a large well-circumscribed mixed, cystic/solid oval mass, originating from right sacro-gluteal region and projecting into the amniotic cavity, 132 × 110 × 76 mm in size. The mass had a heterogeneous appearance. The T1 high signal suggested fat component of the tumor, while T1 and T2 hypointense components suggested calcified/bony components. There was also T1 hypointense component consistent with cystic and fluid component. The imaging findings were characteristic for sacrococcygeal teratoma. There was not obvious lumbar or thoracic spinal involvement. There was no gross intrapelvic or abdominal extension, and even sacrum and coccyx appeared deformed. The amount of amniotic fluid was increased. MRI was superior to ultrasonography in the evaluation of the exact tumor extent, accurately demonstrating pelvic involvement in all of the three cases. Fetal MRI has shown to be a valuable adjunct to obstetric sonography in the evaluation of fetal sacrococcygeal teratoma, because of its higher accuracy in the determination of tumors extent and content, playing a significant role in the therapeutic planning and increasing the chances of cure for these fetuses. PMID:28983369

Sacrococcygeal Teratoma Presenting with Vaginal Discharge and Polyp in an Infant.

PubMed

Ladenhauf, Hannah N; Brandtner, M Georgina; Schimke, Christa; Ardelean, Mircia A; Metzger, Roman

2018-06-01

Sacrococcygeal teratoma accounts for the most common solid tumor in neonates. Because of improved technology, 50%-70% of cases can be diagnosed antenatally during routine ultrasound screenings. If not diagnosed antenatally, clinical findings at birth are distinct in most cases including a palpable or visible mass. We report an unusual case of a 1-year-old girl who presented with persistent vaginal discharge leading to diagnosis of a mucosal polypoid lesion of the vagina, ultimately revealing a hidden sacrococcygeal teratoma. We suggest thorough investigation of all infants who present with purulent discharge and recurrent vaginal mass; sacrococcygeal teratoma should routinely be considered as a differential diagnosis. Copyright © 2017 North American Society for Pediatric and Adolescent Gynecology. Published by Elsevier Inc. All rights reserved.

Post-surgical wound management of pilonidal cysts with a haemoglobin spray: a case series.

PubMed

Mustafi, N; Engels, P

2016-04-01

Painful acute cysts in the natal cleft or lower back, known as pilonidal sinus disease, are a severe burden to many younger patients. Although surgical intervention is the preferred first line treatment, postsurgical wound healing disturbances are frequently reported due to infection or other complications. Different treatment options of pilonidal cysts have been discussed in the literature, however, no standardised guideline for the postsurgical wound treatment is available. After surgery, a common recommended treatment to patients is rinsing the wound with clean water and dressing with a sterile compress. We present a case series of seven patients with wounds healing by secondary intention after surgical intervention of a pilonidal cyst. The average age of the patients was 40 years old. Of the seven patients, three had developed a wound healing disturbance, one wound had started to develop a fibrin coating and three were in a good condition. The applied wound care regimens comprised appropriate mechanical or autolytic debridement, rinsing with an antimicrobial solution, haemoglobin application, and primary and secondary dressings. In all seven cases a complete wound closure was achieved within an average of 76 days with six out of seven wounds achieving wound closure within 23-98 days. Aesthetic appearance was deemed excellent in five out of seven cases excellent and acceptable in one. Treatment of one case with a sustained healing disturbance did result in wound closure but with a poor aesthetic outcome and an extensive cicatrisation of the new tissue. Based on these results we recommend that to avoid healing disturbances of wounds healing by secondary intention after surgical pilonidal cyst intervention, an adequate wound care regime comprising appropriate wound debridement, rinsing, topically applied haemoglobin and adequate wound dressing is recommendable as early as possible after surgery.

[Clinical application of modified upper gluteal rhomboid fasciocutaneous flap in repairing sacrococcygeal pressure sores].

PubMed

Jiang, Maohua; Yang, Xiaoliang; Wei, Bangmin; Li, Yinghao

2012-03-01

To investigate the method and effectiveness of repairing sacrococcygeal pressure sores with modified upper gluteal rhomboid fasciocutaneous flap. Between January 2004 and March 2011, 43 patients with sacrococcygeal pressure sores were treated. There were 25 males and 18 females with an average age of 63 years (range, 38-95 years). The disease duration was 3 months to 2 years and 6 months (mean, 8.5 months). The size of pressure sores ranged from 6 cm x 5 cm to 18 cm x 13 cm. According to the extent and lesion degree of pressure scores, 23 pressure sores were rated as degree III and 20 pressure sores as degree IV. The modified upper gluteal rhomboid flap was designed, one-side upper gluteal fasciocutaneous flaps were transplanted to repair sacrococcygeal pressure sores in 19 cases and two-side flaps in 24 cases. The size of one side flap ranged from 6.5 cm x 4.5 cm to 18.0 cm x 11.5 cm. Fluid under flap occurred in 1 case and edge necrosis of the flaps in 3 cases at 7 days after operation, which were cured after drainage and dressing change; the other flaps survived, and incisions healed by first intention. All patients were followed up 6 months to 3 years with an average of 11 months. Two patients relapsed at 5 months and 8 months, respectively; the other patients had no recurrence. The color of the flaps was normal, and the appearance and elasticity of the flaps were good. The modified upper gluteal rhomboid fasciocutaneous flap has the advantages of simple design and operation, less injury, and reliable effect in repairing sacrococcygeal pressure sores.

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

PubMed

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.

[Pedicled superior gluteal artery perforator bilateral quadrilobed flaps for repair of large sacrococcygeal pressure sores].

PubMed

Hai, Henglin; Li, Huatao; Chen, Yang; Li, Qiang; Wu, Shenggang; Lili, Wang; Yan, Lei; Xiaoying, Zhou

2013-03-01

To investigate the effectiveness of pedicled superior gluteal artery perforator bilateral quadrilobed flaps for repairing large sacrococcygeal pressure sores. Between June 2003 and August 2011, 6 paraplegia patients with large sacrococcygeal pressure sores were repaired with the pedicled superior gluteal artery perforator bilateral quadrilobed flaps. There were 2 males and 4 females with an average age of 45.6 years (range, 37-62 years). The mean disease duration was 8.4 months (range, 3-26 months). According to National Pressure Ulcer Advisory Panel (NPUAP) standard, 6 cases rated as degree IV. The size of pressure sores ranged from 15 cm x 13 cm to 18 cm x 16 cm. The size of flaps ranged from 18 cm x 14 cm to 21 cm x 15 cm. After operation, all flaps survived successfully. The wounds healed by first intention in 5 cases; partial dehiscence of incision occurred in 1 case, which was cured after dressing change for 26 days. Six patients were followed up 6-24 months (mean, 12.5 months). The appearance and texture of the flaps were smooth and soft with good elasticity and no ulceration. Pedicled superior gluteal artery perforator bilateral quadrilobed flaps can repair large sacrococcygeal pressure sores. The appearance of flaps is smooth and has good compression-resistance effect.

[Case control study on clinical effects of sacrococcygeal manipulation in the treatment of coccyx pain].

PubMed

Wang, Di; Luo, Jie; Li, Jia-Dong; Pei, Ming-Ming; Zhang, Wei

2016-09-25

To study the clinical efficacy of sacral manual therapy in the treatment of coccygodynia. From November 2013 to July 2015, 184 patients with sacrococcygeal pain were divided into treatment group and control group. There were 26 males and 65 females in the treatment group, with an average age of (39.63±11.62) years old. In the control group, there were 31 males and 62 females, with an average age of (41.47±11.56) years old. The patients in the treatment group were treated with sacrococcygeal massage therapy, 3 times a week for 2 weeks. The patients in the control group were treated with Diclofenac Diethylamine Emulgel, 2 times a day for 2 weeks. The VAS pain score, score in rating scale of sacrococcygeal pain and degree of tenderness were obtained on the first day of treatment, 2, 7, 14 days and 3 months after treatment to evaluate clinical results. When comparing the VAS pain score of sacrococcygeal pain within the two groups, the differences began to reach statistical significance on the second day( P <0.001). The chagne of VAS pain scores, the change of scores in rating scale of sacrococcygeal pain and the degree of tenderness in the treatment group were all significontly larger that those in the contral group from the second day. The curative effect of sacral manipulation group is better than that of Diclofenac Diethylamine Emulgel group in the treatment of sacrococcygeal pain.

Comparison of Three Surgical Methods in Treatment of Patients with Pilonidal Sinus: Modified Excision and Repair/Wide Excision/Wide Excision and Flap in RASOUL, OMID and SADR Hospitals( 2004-2007).

PubMed

Hosseini, Mostafa; Heidari, Afshin; Jafarnejad, Babak

2013-10-01

This study is a comparison between three methods that are frequently used for the surgical treatment of pilonidal disease all over the world: modified excision and repair, wide excision and secondary repair, and wide excision and flap. The first technique is done by our group for the first time, and has not been described previously in the literature. This is an interventional study performed at Omid, Sadr, and Rasoul Akram hospitals on patients who had undergone operation because of pilonidal sinus disease and met the inclusion criteria between 2004 and 2007. Exclusion criteria were (1) acute pilonidal sinus diseases, (2) history of pilonidal sinus surgery, (3) history of systemic diseases (DM, malignancy, etc.), and (4) pilonidal abscess. Essential information was extracted from complete medical archives. Any data not available in files or during follow-up visits (all patients supposed to be followed at least for 1 year) were gathered by a telephone interview. A total of 194 patients met the criteria and had complete archived files. Longer duration of hospital stay was found in the "wide excision and closing with flap" method comparing with two other methods (P < 0.05). Length of incapacity for work was not different between the "wide excision and modified repair" and "wide excision" (P > 0.5) methods, but longer for "wide excision and flap" in comparison with two others (P < 0.05). Healing time was significantly longer in the "wide excision" method in comparison with two other methods (P < 0.05). However, "wide excision and modified repair" method had the least healing time between all above techniques, except for length of leaving the office. All the three recurrences (1.5 %) occurred in the wide excision and flap method (P < 0.05). The frequency of postoperative complications was 2 (3.3 %) in wide excision and modified repair, 15 (18.5 %) in wide excision, and 17 (32.7 %) in wide excision and flap closure; these differences in

Evaluation of pregnancy and delivery in 13 women who underwent resection of a sacrococcygeal teratoma during early childhood.

PubMed

Kremer, Marijke E B; Koeneman, Margot M; Derikx, Joep P M; Coumans, Audrey; van Baren, Robertine; Heij, Hugo A; Wijnen, Marc H W A; Wijnen, René M H; van der Zee, David C; van Heurn, Ernest L W

2014-12-12

Sacrococcygeal teratoma resection often brings changes in pelvic anatomy and physiology with possible consequences for defecation, micturition and sexual function. It is unknown, whether these changes have any gynecological and obstetric sequelae. Until now four pregnancies after sacrococcygeal teratoma resection have been described and cesarean section has been suggested to be the method of choice for delivery. We evaluated the pregnancy course and mode of delivery in women previously treated for a sacrococcygeal teratoma. The records of all patients who underwent sacrococcygeal teratoma resection after 1970 in one of the six pediatric surgical centers in the Netherlands were reviewed retrospectively. Women aged 18 years and older were eligible for participation. Patient characteristics, details about the performed operation and tumor histology were retrieved from the records. Consenting participants completed a questionnaire addressing fertility, pregnancy and delivery details. Eighty-nine women were eligible for participation; 20 could not be traced. Informed consent was received from 41, of whom 38 returned the completed questionnaire (92.7%). Thirteen of these 38 women conceived, all but one spontaneously. In total 20 infants were born, 17 by vaginal delivery and 3 by cesarean section, in one necessitated by previous intra-abdominal surgery as a consequence of sacrococcygeal teratoma resection. Conversion to a cesarean section was never necessary. None of the 25 women without offspring reported involuntary childlessness. There are no indications that resection of a sacrococcygeal teratoma in female patients is associated with reduced fertility: spontaneous pregnancy is possible and vaginal delivery is safe for mother and child, irrespective of the sacrococcygeal teratoma classification or tumor histology.

Taila Dāha (Cauterization with Oil) an Innovative Approach in Pilonidal Sinus.

PubMed

Tripathy, Rabinarayan; John, Neelima Sherly; Vijayalekshmi, Sreedevi; Nair, Nj Anuja; Pasupalan, Suresh

2016-01-01

Summary : 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 (CuSO 4 ). 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.

Pilonidal Disease

MedlinePlus

... ensuring high-quality patient care by advancing the science, prevention and management of disorders and diseases of the colon, rectum and anus. These brochures are inclusive but not prescriptive. Their purpose is to provide information on diseases and processes, ...

Umbilical Pilonidal Sinus, an Underestimated and Little-Known Clinical Entity: Report of Two Cases

PubMed Central

Kaplan, Mehmet; Kaplan, Elif Tugce; Kaplan, Tugba; Kaplan, Fatma Cigdem

2017-01-01

Case series Patient: Male, 26 • Female, 21 Final Diagnosis: Umbilical pilonidal sinus Symptoms: Hair tuft in the umbilicus • pain • periumbilical dermatitis • purulent discharge from the umbilicus • skin lesions • pruritis Medication: — Clinical Procedure: Umbilicus preserving surgery Specialty: General Surgery • Dermatology • Plastic Surgery Objective: Rare disease Background: Umbilical pilonidal sinus (UPS) is a rare disease of young, hirsute, dark men with deep navels and poor personal hygiene. UPS could easily be misdiagnosed and mistreated due to its rarity and lack of awareness of the condition by physicians. However, the diagnosis is easy to establish with physical examination and a detailed history. Although it is being diagnosed and reported more frequently, there is still no consensus regarding best treatment options. Case Report: In this report, we present two cases of UPS, one in a man and one in a woman, who had typical symptoms of pain, swelling, and intermittent malodorous discharge from the umbilicus. They had small sinus openings with hair protruding deep in the navel. Because these two patients had previous histories of failed conservative treatments, an umbilicus preserving surgery was performed for both cases. Wounds were healed in 2–3 weeks with acceptable cosmetic results. During a more than 2 year follow-up period, there were no signs of recurrence. Conclusions: In a patient presenting with a history of intermittent discharge, itching, pain, or bleeding from the umbilicus and the presence of granulation tissue with or without protruding hair and periumbilical dermatitis, the diagnosis should consider UPS, even in female patients. Treatment generally depends on the severity of the disease, ranging from good personal hygiene to surgical excision of umbilical complex. The treatment of choice for chronic intermittent cases is surgical removal of the affected portion; paying special attention to cosmetic appearance. PMID

Difficulties in prenatal diagnosis of tumour in the fetal sacrococcygeal area

PubMed Central

Krekora, Michał; Blitek, Marek; Kęsiak, Marcin; Piaseczna-Piotrowska, Anna; Łukaszek, Stanisław; Krasomski, Grzegorz; Słodki, Maciej; Szaflik, Krzysztof; Respondek-Liberska, Maria

2016-01-01

Prenatal ultrasound at the 20th week of gestation revealed a 3-cm tumour in the sacrococcygeal area. Initially, a sacrococcygeal teratoma was suspected on the basis of fetal ultrasonography, which revealed normal heart anatomy and an increasing tumour mass. The diagnosis was then changed to fetus in fetu or teratoma. Prenatal magnetic resonance imaging at the 34th week of pregnancy confirmed the ultrasound diagnosis. No other anomalies were found. Elective caesarean section was performed at term. The care team included a paediatric surgeon, obstetricians, neonatologists, midwives, and an anesthesiologist. A female newborn was delivered in good condition. The tumour was resected in the operating room and mature teratoma was established by histopathological evaluation. Surprisingly, agenesis of the right forearm was revealed which had not been detected prenatally, despite many examinations (both in our hospital and earlier at a primary care obstetrician office). PMID:27482281

Sacrococcygeal teratoma in a female newborn with clinical features of trisomy 13: a case report from Central Africa.

PubMed

Lubala, Toni Kasole; Mukuku, Olivier; Shongo, Mick Pongombo; Mutombo, Augustin Mulangu; Lubala, Nina; Luboya, Oscar Numbi; Lukusa-Tshilobo, Prosper

2015-01-01

The objective of this report is to describe the first patient presenting clinical features of trisomy 13 in association with a sacrococcygeal teratoma. We present the case of a Congolese female infant born with bilateral cleft lip and palate, hypotelorism, microcephaly, and capillary hemangioma on her face. She presented with a large sacrococcygeal mass (15.0 cm ×12.0 cm ×5.0 cm) with a cystic consistency and a positive transillumination. This observation suggests that overexpression of certain genes on chromosome 13 may lead to tumor formation from remnant cells of Hensen's node.

Urogenital anomalies in girls with sacrococcygeal teratoma: a commonly missed association.

PubMed

Shalaby, Mohamed Sameh; O'Toole, Stuart; Driver, Chris; Bradnock, Tim; Lam, Jimmy; Carachi, Robert

2012-02-01

The association of urogenital (UG) anomalies and sacrococcygeal teratoma (SCT) has not been widely reported. Our aim was to look at the national incidence and presentation of this anomaly in patients with SCT and to provide the first report of a clear anatomical description of this commonly missed association. Sacrococcygeal teratoma cases in Scotland during the last 30 years were identified. Patients with associated UG anomalies were reviewed in detail to identify their presentation, anatomy, and management. Fifty-three patients with SCT were identified, including 41 girls. Five girls (12%) subsequently had a UG anomaly diagnosed, which was not apparent at the initial surgery. Two patients presented with retention, and their anomaly was diagnosed at 6 weeks and 7 months of age. The other 3 presented with incontinence, and despite thorough assessment, including cystoscopy, their UG anomalies were not recognized until the ages of 7, 9, and 13 years. Urogenital anomalies are surprisingly common in girls with SCT. The reason for this association is unclear. None of these cases were diagnosed initially, which means that it was either missed or acquired. Urogenital anomalies should be suspected in girls with SCT and actively excluded in those with voiding difficulties. Copyright © 2012 Elsevier Inc. All rights reserved.

Unilateral renal agenesis with subseptate uterus and sacrococcygeal teratoma: A unique triad

PubMed Central

Ahmed, Muhammad S; Imtiaz, Sheeza; Pathan, Hina; Usman, Rahila

2017-01-01

Unilateral renal agenesis (URA) is a rare condition with a reported incidence of 0.93–1.8 per 1000 autopsies. It is commonly diagnosed as an incidental finding on imaging. URA is frequently associated with other genitourinary anomalies. Different associations have been described in both males and females, however, to our knowledge, it has not been reported with subseptate uterus (SSU) and sacrococcygeal teratoma (SCT) in the same individual. Here, we present a unique case of URA with SSU and SCT. PMID:29089677

[18F]-Fluoromisonidazole Positron Emission Tomography/Computed Tomography Visualization of Tumor Hypoxia in Patients With Chordoma of the Mobile and Sacrococcygeal Spine

DOE Office of Scientific and Technical Information (OSTI.GOV)

Cheney, Matthew D., E-mail: mcheney@lroc.harvard.edu; Chen, Yen-Lin; Lim, Ruth

2014-12-01

Purpose: To investigate [18F]-fluoromisonidazole positron emission tomography/computed tomography (FMISO-PET/CT) detection of targetable hypoxic subvolumes (HSVs) in chordoma of the mobile or sacrococcygeal spine. Methods and Materials: A prospective, pilot study of 20 patients with primary or locally recurrent chordoma of the mobile or sacrococcygeal spine treated with proton or combined proton/photon radiation therapy (RT) with or without surgery was completed. The FMISO-PET/CT was performed before RT and after 19.8-34.2 GyRBE (relative biologic effectiveness). Gross tumor volumes were delineated and HSVs defined including voxels with standardized uptake values ≥1.4 times the muscle mean. Clinical characteristics and treatments received were compared betweenmore » patients with and without HSVs. Results: The FMISO-PET/CT detected HSVs in 12 of 20 patients (60%). Baseline and interval HSV spatial concordance varied (0%-94%). Eight HSVs were sufficiently large (≥5 cm{sup 3}) to potentially allow an intensity modulated proton therapy boost. Patients with HSVs had significantly larger gross tumor volumes (median 410.0 cm{sup 3} vs 63.4 cm{sup 3}; P=.02) and were significantly more likely to have stage T2 tumors (5 of 12 vs 0 of 8; P=.04). After a median follow-up of 1.8 years (range, 0.2-4.4 years), a local recurrence has yet to be observed. Three patients developed metastatic disease, 2 with HSVs. Conclusions: Detection of targetable HSVs by FMISO-PET/CT within patients undergoing RT with or without surgery for treatment of chordoma of the mobile and sacrococcygeal spine is feasible. The study's inability to attribute interval HSV changes to treatment, rapidly changing hypoxic physiology, or imaging inconsistencies is a limitation. Further study of double-baseline FMISO-PET/CT and hypoxia-directed RT dose escalation, particularly in patients at high risk for local recurrence, is warranted.« less

Cushing's syndrome in infancy due to ectopic ACTH secretion by a sacro-coccygeal teratoma.

PubMed

Rydzewska, Marta; Krawczuk-Rybak, Maryna; Zajkowska, Adrianna; Jurczuk, Natalia; Polnik, Dariusz; Szalecki, Mieczysław; Moszczyńska, Elżbieta; Savage, Martin O; Bossowski, Artur

2017-04-01

Adenocorticotropic hormone (ACTH)-dependent Cushing's syndrome in infancy is extremely rare. We describe the case of a sacro-coccygeal ectopic ACTH-secreting immature teratoma in an infant who also presented the triad of defects characteristic of Currarino syndrome. A girl was born with a large immature teratoma in the sacro-coccygeal region associated with anal atresia. At the age of 7 days, the concentration of α-fetoprotein (AFP) was above the age-specific normal range. Two non-radical surgical excisions of the tumour were performed. At the age of 7 months, she developed polyphagia, acne, hirsutism, hypertension and hypokalemia with elevated ACTH and absence of serum cortisol circadian rhythm. Immunostaining of tumour tissue showed ACTH-immunoreactive cells. Due to unsuccessful therapy with ketoconazole and resistance to antihypertensive medications [blood pressure (BP) 210/160 mmHg], metyrapone was administered, which controlled her ACTH and cortisol levels in the normal range. Following further removal of tumour bulk after three operations during the first year of life, there was a decrease of BP to normal values. A rare case of ectopic ACTH syndrome causing Cushing's syndrome in infancy in the context of Currarino syndrome is reported. Radical surgery has resulted in excision of the tumour and current control of Cushing's syndrome.

Manuka honey as an effective treatment for chronic pilonidal sinus wounds.

PubMed

Thomas, M; Hamdan, M; Hailes, S; Walker, M

2011-11-01

A retrospective study to investigate the effectiveness of topical manuka honey in the treatment of chronic or recurrent pilonidal sinus disease (PSD), assessing the ability of this simple dressing technique to achieve complete wound healing, the time taken to achieve healing and the recurrence rate. All patients who received manuka honey dressing therapy following surgical intervention for chronic or recurrent PSD were identified over a 4-year period. In a retrospective review of case notes, data were collected on patient sex, age, nature of surgical procedures performed, time to achieve complete wound healing, and recurrences after completion of honey therapy. Seventeen patients were eligible for inclusion in the study. Mean time to commence honey therapy post-surgery was 93 days (5-517 days; median 33 days); 15 patients achieved complete wound healing, in a mean time of 65 days (14-264 days; median 49 days). Honey was discontinued in one patient due to an adverse event, and two patients experienced recurrence several months after completing honey therapy. Manuka honey dressing therapy provides an effective topical treatment for chronic/recurrent PSD. Further research is necessary to determine the optimum dressing protocol. The authors have no conflicts of interest to declare. There were no external sources of funding for this study.

A composite gluteofemoral flap for reconstruction of large pressure sores over the sacrococcygeal region.

PubMed

Xie, Yun; Zhuang, Yue-Hong; Xue, Lan; Zheng, He-Ping; Lin, Jian-Hua

2015-12-01

Gigantic pressure sores pose a daunting challenge for plastic surgeons. This paper presents a composite gluteofemoral flap for reconstruction of large pressure sores over the sacrococcygeal region. In this anatomical study, 30 embalmed cadaveric lower limbs were used for dissection to observe the musculocutaneous perforators of the inferior gluteal artery and the longitudinal nutritional vascular chain of the posterior femoral cutaneous nerve. In this clinical study, eight patients underwent surgical harvest of the composite gluteofemoral flap for coverage of grade IV sacrococcygeal pressure sores. The size of the pressure sores ranged between 16 × 9 cm and 22 × 10 cm. The inferior gluteal artery was present in 26 cases and absent in four cases. It gave off two to four musculocutaneous branches with a diameter larger than 0.5 mm to the gluteus maximus. A direct cutaneous branch was given off at the inferior margin of the gluteus maximus, serving as a nutritional artery for the posterior femoral cutaneous nerve. The size of the flap harvested ranged between 22 × 9 cm and 32 × 10 cm. Flaps in seven patients survived uneventfully and developed epidermal necrosis at the distal margin in one case. An average 2-year follow-up revealed no recurrence of pressure sores. The composite gluteofemoral flap, being robust in blood supply, simple in surgical procedure, and large in donor territory, is an important addition to the armamentarium. Copyright © 2015 British Association of Plastic, Reconstructive and Aesthetic Surgeons. Published by Elsevier Ltd. All rights reserved.

Umbilical Pilonidal Sinus, an Underestimated and Little-Known Clinical Entity: Report of Two Cases.

PubMed

Kaplan, Mehmet; Kaplan, Elif Tugce; Kaplan, Tugba; Kaplan, Fatma Cigdem

2017-03-15

BACKGROUND Umbilical pilonidal sinus (UPS) is a rare disease of young, hirsute, dark men with deep navels and poor personal hygiene. UPS could easily be misdiagnosed and mistreated due to its rarity and lack of awareness of the condition by physicians. However, the diagnosis is easy to establish with physical examination and a detailed history. Although it is being diagnosed and reported more frequently, there is still no consensus regarding best treatment options. CASE REPORT In this report, we present two cases of UPS, one in a man and one in a woman, who had typical symptoms of pain, swelling, and intermittent malodorous discharge from the umbilicus. They had small sinus openings with hair protruding deep in the navel. Because these two patients had previous histories of failed conservative treatments, an umbilicus preserving surgery was performed for both cases. Wounds were healed in 2-3 weeks with acceptable cosmetic results. During a more than 2 year follow-up period, there were no signs of recurrence. CONCLUSIONS In a patient presenting with a history of intermittent discharge, itching, pain, or bleeding from the umbilicus and the presence of granulation tissue with or without protruding hair and periumbilical dermatitis, the diagnosis should consider UPS, even in female patients. Treatment generally depends on the severity of the disease, ranging from good personal hygiene to surgical excision of umbilical complex. The treatment of choice for chronic intermittent cases is surgical removal of the affected portion; paying special attention to cosmetic appearance.

Wound closure with Karydakis flap is decreasing the perioperative costs after pilonidal sinus excision as compared to lay-open approach.

PubMed

Borel, F; Gaudin, C; Duchalais, E; Lehur, P-A; Meurette, G

2017-12-01

To assess the impact of a simple flap closing procedure by Karydakis flap (KF) after pilonidal sinus excision on the costs and healing time as compared to routine lay-open technique. Out of 44 consecutive patients operated on for pilonidal excision (November 2013-March 2015), 17 had a Karydakis flap and 27 a lay-open procedure. For each patient, the length of stay, the operating time (OT), the time needed for complete healing and postoperative care resources were recorded. The global costs included OT, nursing care quantity, and modalities until complete scar healing. One reoperation in the lay-open group was necessary during the follow-up (8±5months). No recurrence occurred. Postoperative morbidity was similar in both groups. Results showed that KF global cost was inferior as compared to lay-open technique (941±178€ vs. 1601±399€; P=0.0001), KF healed faster (32±17 vs. 59±22days; P=0.0001), whereas OT was longer in KF group (16±7 vs. 25±4min; P=0.001). KF allows a faster healing time and a 41% lower cost than lay-open technique. Preferential use of KF rather than lay-open procedure could allow a significant health cost saving. Copyright © 2017. Published by Elsevier Masson SAS.

Comparison of Unilateral Fasciocutaneous V-Y Flap Technique with Cleft Lift Procedure in the Treatment of Recurrent Pilonidal Sinus Disease: A Retrospective Clinical Study.

PubMed

Koca, Yavuz Savas; Yildiz, Ihsan; Okur, Selahittin Koray; Saricik, Bekir; Uğur, Mustafa; Bulbul, Mustafa Tevfik; Uslusoy, Fuat; Barut, İbrahim

2018-02-04

BACKGROUND This study aimed to assess treatment outcomes of the cleft lift procedure and V-Y flap technique in the treatment of recurrent pilonidal sinus disease (PSD). MATERIAL AND METHODS A total of 51 patients who underwent cleft lift procedure and 43 patients who underwent fasciocutaneous V-Y flap technique were evaluated. The demographic characteristics, previous operations, duration of symptoms, perioperative complications, duration of operation and hospital stay, duration of draining of all patients, and recurrence of PSD were recorded. RESULTS The mean operation time was 35.61±5.254 min in the cleft lift group (CLG) and 57.42±7.327 min in the V-Y flap group (VYFG) (p=0.001). No wound dehiscence was found in the VYFG and 5 patients (9.8%) had wound dehiscence in the CLG (p=0.035). Draining time was 1.39±0.603 days in the CLG and 2.79±0.638 days in VYFG (p=0.001). The mean hospital stay was 1.75±0.523 days in the CLG and 3.77±1.02 days in the VYFG (p=0.001). Two patients (3.9%) in the CLG had recurrence and no recurrence was reported in the VYFG (p=0.189) in the given time interval. CONCLUSIONS Both methods in treatment of recurrent PSD can be preferred because of low complication and recurrence rates. Because no recurrence was found after the V-Y flap technique, it appears to be a preferable method despite some disadvantages.

Conservative vs Surgical Interventions for Umbilical Pilonidal Sinus: A Multicenter, Double-Blind, Prospective, Randomized Clinical Trial.

PubMed

Kaplan, Mehmet; Ozcan, Onder; Kaplan, Fatma Cigdem; Yalcin, Huseyin Cahit; Salman, Bulent

2016-05-01

Umbilical pilonidal sinus (UPS) is one of the most neglected disorders, and there is still no clear consensus regarding optimal treatment of the disease. We therefore present our data from a prospective, randomized, controlled clinical trial comparing conservative vs surgical treatment of UPS. The study was conducted in Turkey between January 2012 and November 2015. All eligible patients with the diagnosis of UPS (n = 84) were randomized for either conservative treatment (CT, n = 42) or surgical treatment (ST, n = 42). All patients were followed up for at least 2 years; then, the results of both groups were compared. The primary outcomes were initial healing, recurrence, and the cure rate of the disease after each treatment modality. Mean (± SD) age of the patients was 20.83 ± 5.73 years old, and the majority were men (94%). Nearly 60% of the patients had a deep navel, and 55% had intense hair status. The main symptoms were drainage and wetness, pain, itching, and malodor. Overall, in 10 (27.8%) patients, relapse of the disease was observed in the CT group; it was observed in only 1 patient in the ST group (p = 0.002). Initial healing time was significantly shorter in the ST group (p = 0.001). Of the 81 patients who completed the 2-year follow-up, a cure could be obtained in only 28 of 41 patients in the CT group; it was achieved in all 40 patients in the ST group (68.3% vs 100%, respectively; p = 0.0001). This study provided evidence that surgical treatment is superior to conservative surgery regarding the primary and secondary outcomes of UPS at least 2 years after surgery. Copyright © 2016 American College of Surgeons. Published by Elsevier Inc. All rights reserved.

[Excision and immediate suture technic in the treatment of pilonidal fistula. Our experience].

PubMed

Calcina, G; Setti, P; Benati, L; Savioli, A; Galli, G

1995-09-01

The authors report their personal experience of the "excision and primary suture" operating technique in the surgical treatment of pilonidal sinus. A rapid recovery by postoperative day 10 was achieved in 58 out of 60 cases treated (96.7%). Dehiscence of the surgical wound was observed in 2 cases (3.3%) following ischemic lesion caused by decubitus of the cutaneous margins and healing occurred by second intenti. No cases of short- or long-term recidivation were observed. The advantages of this method are the early return to working activities, minor patient discomfort and the reduced risk that the surgical would might become infected. Three basic stages for the successful outcome of this type of surgery have been identified as follows: 1) Although and accurate tricotomy of the sacro-coccigeal region. Antibiotic therapy is started about 2 hours before surgery. 2) The precise execution of the surgical technique. 3) The continuation of antibiotic therapy until postoperative day 7. Compressive medication is removed on postoperative day 4. If these three basic stages are respected, no cases of recidivation will occur.

Assessment of sacrococcygeal pressure ulcers using diffuse correlation spectroscopy

NASA Astrophysics Data System (ADS)

Diaz, David; Lafontant, Alec; Neidrauer, Michael; Weingarten, Michael S.; DiMaria-Ghalili, Rose Ann; Fried, Guy W.; Rece, Julianne; Lewin, Peter A.; Zubkov, Leonid

2016-03-01

Microcirculation is essential for proper supply of oxygen and nutritive substances to the biological tissue and the removal of waste products of metabolism. The determination of microcirculatory blood flow (mBF) is therefore of substantial interest to clinicians for assessing tissue health; particularly in pressure ulceration and suspected deep tissue injury. The goal of this pilot clinical study was to assess deep-tissue pressure ulceration by non-invasively measuring mBF using Diffuse Correlation Spectroscopy (DCS). DCS provides information about the flow of red blood cells in the capillary network by measuring the temporal autocorrelation function of scattering light intensity. A novel optical probe was developed in order to obtain measurements under the load of the subject's body as pressure is applied (ischemia) and then released (reperfusion) on sacrococcygeal tissue in a hospital bed. Prior to loading measurements, baseline readings of the sacral region were obtained by measuring the subjects in a side-lying position. DCS measurements from the sacral region of twenty healthy volunteers have been compared to those of two patients who initially had similar non-blanchable redness. The temporal autocorrelation function of scattering light intensity of the patient whose redness later disappeared was similar to that of the average healthy subject. The second patient, whose redness developed into an advanced pressure ulcer two weeks later, had a substantial decrease in blood flow while under the loading position compared to healthy subjects. Preliminary results suggest the developed system may potentially predict whether non-blanchable redness will manifest itself as advanced ulceration or dissipate over time.

Surgical intervention of pilonidal sinus: impact on patients' postoperative satisfaction and return to work time.

PubMed

Gaiser, Maria Rita; Lee, Sophia Boyoung; Enk, Alexander; Schrott, Peter; Weisser, Heiko

2013-01-01

Pilonidal sinus (PS) is a chronic inflammatory process accompanied by psychological strain and a high rate of work incapacity. To analyze the impact of PS surgery on individual patients' satisfaction (SAT) and economic impacts on work capability. We retrospectively analyzed 40 PS patients regarding SAT and return to work time (RTW) in relation to various factors, using multivariate analysis and Pearson's correlation test. We found a significant negative correlation between SAT and RTW (p<0.01), both correlated equally strongly with duration between first diagnosis and surgery (p<0.01) and with loss of weight (p<0.05). RTW correlated with duration of painkiller intake (p<0.01). SAT correlated with gender (p<0.01), smoking cessation (p<0.05) and quantity of painkiller intake (p<0.01). Satisfaction correlated with gender (p<0.01), smoking cessation (p<0.05), and quantity of painkiller intake (p<0.05). RTW after PS surgery is influenced by factors that can be influenced prior to surgery, leading to better economic results for patients and employers as well as society.

The anatomy of the sacrococcygeal cornual region and its clinical relevance.

PubMed

Woon, Jason T K; Stringer, Mark D

2014-09-01

There has been no systematic study of the anatomy of the region between the sacral and coccygeal cornua. Reference texts describe an intercornual ligament connecting these structures. The aim of this study was to investigate the anatomy of this region, which may be relevant to unexplained cases of coccygeal pain (coccydynia) and local nerve blocks. The bony anatomy of the sacrococcygeal (SC) cornual region was analyzed in 33 CT scans obtained from supine adults of mostly European origin with no known SC pathology, 7 μCT scans of cadaver SC specimens, and 105 Asian Indian adult skeletons. A further five cadaver SC specimens were examined histologically. SC cornual fusion was seen in 45% of CT/μCT scans (mean age 67 years, 20 males) and in 20% of adult skeletons (78 males); there was no association with age or sex. In the absence of SC fusion, the mean intersacrococcygeal cornual gap was 7.1 ± 2.4 mm; this was bridged by an intercornual ligament composed of parallel vertical collagen fibers reinforced by elastin fibers on its anterior surface. Small nerve branches were observed adjacent to the ventral aspect of the intercornual ligament and, in one case, traversing the ligament. Ipsilateral sacral and coccygeal cornua are therefore normally bridged by an intercornual ligament that is probably innervated. The cornua are fused on one or both sides in 20-45% of adults. These findings may have implications for some cases of coccydynia and for anesthetists performing local nerve blocks.

Gait analysis in patients operated on for sacrococcygeal teratoma.

PubMed

Zaccara, Antonio; Iacobelli, Barbara D; Adorisio, Ottavio; Petrarca, Maurizio; Di Rosa, Giuseppe; Pierro, Marcello M; Bagolan, Pietro

2004-06-01

Long-term follow-up of sacrococcygeal teratoma (SCT) is well established; however, little is known about the effects of extensive surgery in the pelvic and perineal region, which involves disruption of muscles providing maximal support in normal walking. Thirteen patients operated on at birth for SCT with extensive muscle dissection underwent gait studies with a Vicon 3-D motion analysis system with 6 cameras. Results were compared with 15 age-matched controls. Statistical analysis was performed with Mann-Whitney test; correlations were sought with Spearman's correlation coefficient. All subjects were independent ambulators, and no statistically significant differences were seen in walking velocity and stride length. However, in all patients, toe-off occurred earlier (at 58% +/- 1.82% of stride length) than controls (at 65.5% +/- 0.52%; P <.05). On kinetics, all patients exhibited, on both limbs, a significant reduction of hip extensory moment (-0.11 +/- 0.11 left; -0.16 +/- 0.15 right v 1.19 +/- 0.08 Newtonmeter/kg; P <.05) and of ankle dorsi/plantar moment (-0.07 +/- 0.09 right; -0.08 +/- 0.16 v -0.15 +/- 0.05 Nm/kg, p < 0.05). Knee power was also significantly reduced (0.44 +/- 0.55 right, 0.63 +/- 0.45 left v 0.04 +/- 0.05 W/kg), whereas ankle power was increased (3 +/- 1.5 right; 2.8 +/- 0.9 left v 1.97 +/- 0.2 W/kg; P <.05). No statistically significant correlation was found between tumor size and either muscle power generation or flexory/extensory moments. Patients operated on for SCT exhibit nearly normal gait patterns. However, this normal pattern is accompanied by abnormal kinetics of some ambulatory muscles, and the extent of these abnormalities appears to be independent of tumor size. A careful follow-up is warranted to verify if such modifications are stable or progress over the years, thereby impairing ambulatory potential or leading to early arthrosis.

Comparison of intratesticular lidocaine, sacrococcygeal epidural lidocaine and intravenous methadone in cats undergoing castration: a prospective, randomized, investigator-blind clinical trial.

PubMed

Fernandez-Parra, Rocio; Zilberstein, Luca; Fontaine, Cyril; Adami, Chiara

2017-03-01

The objective of this study was to compare three analgesic protocols for feline castration. Prospective, randomized clinical study. Forty-nine client-owned cats. Cats were injected with intramuscular (IM) dexmedetomidine (15 μg kg -1 ) and alfaxalone (3 mg kg -1 ) and assigned randomly to one of three treatment groups. Group ITL (n = 15) were administered intratesticular 2% lidocaine (0.05 mL each testicle), group SCL (n = 15) a sacrococcygeal epidural injection of 2% lidocaine (0.1 mL kg -1 ) and group IVM (n = 19) intravenous (IV) methadone (0.3 mg kg -1 ), before surgery. Cardiorespiratory variables were recorded. In case of autonomic nociceptive response, IV fentanyl (2 μg kg -1 ) was administered. During recovery, time from IM atipamezole (75 μg kg -1 , administered at the end of surgery) to sternal recumbency and to active interaction was recorded. Quality of recovery was assessed using a simple descriptive scale. Postoperative analgesia was evaluated using a visual analogue scale and the UNESP-Botucatu multidimensional composite pain scale (MCPS) at return of active interaction and then 1, 2 and 3 hours later. The three analgesic protocols were comparable in terms of intraoperative fentanyl and propofol requirement. Cardiorespiratory variables stayed within normal ranges in the majority of the cases, although group IVM had the lowest intraoperative respiratory rate (p = 0.0009). No differences were detected between groups in UNESP-Botucatu MCPS scores (p = 0.21). However, group ITL showed higher visual analogue scale score than group IVM (p = 0.001). Four cats enrolled in group ITL, as well as three of group SCL and one of group IVM, required rescue analgesics before the completion of pain assessment. Intratesticular and sacrococcygeal epidural lidocaine injections could be regarded as good alternatives to systemic opioids in cats undergoing castration, although the benefits of these techniques seem to be of shorter duration than

Abnormal umbilical cord Dopplers may predict impending demise in fetuses with sacrococcygeal teratoma. A report of 2 cases.

PubMed

Olutoye, Oluyinka O; Johnson, Mark P; Coleman, Beverly G; Crombleholme, Timothy M; Adzick, N Scott; Flake, Alan W

2003-01-01

To identify factors predictive of fetal demise in fetuses with sacrococcygeal teratoma (SCT). The recent management of monochorionic twins discordant for a large SCT and a singleton with a large SCT were reviewed. Serial fetal echocardiography and ultrasonography with Doppler flow measurements documented rapid growth of the SCT in both cases with a relatively modest increase in combined cardiac output. No placentomegaly or hydrops was observed at any time. In both fetuses with SCT, evolution of abnormal umbilical artery waveforms was observed with the ultimate development of reversed end-diastolic umbilical arterial flow that was followed by sudden fetal demise. Death in these 2 fetuses with large SCTs in the absence of placentomegaly/hydrops or hemodynamic changes suggestive of evolving high-output failure suggests a previously unrecognized mechanism of death in fetuses with large rapidly growing SCTs. In these cases, fetal demise may only be heralded by abnormal umbilical artery waveforms that progress to the premorbid observation of reversed diastolic umbilical artery blood flow. Umbilical artery waveform analysis should be closely monitored with other hemodynamic parameters in fetuses with large SCTs. In such fetuses, depending on the gestational age, abnormalities in umbilical artery waveform should be considered indications for early delivery or in utero intervention to prevent fetal demise. Copyright 2003 S. Karger AG, Basel

Abnormal umbilical cord Doppler sonograms may predict impending demise in fetuses with sacrococcygeal teratoma. A report of two cases.

PubMed

Olutoye, Oluyinka O; Johnson, Mark P; Coleman, Beverly G; Crombleholme, Timothy M; Adzick, N Scott; Flake, Alan W

2004-01-01

To identify factors predictive of fetal demise in fetuses with sacrococcygeal teratoma (SCT). The recent management of monochorionic twins discordant for a large SCT and a singleton with a large SCT was reviewed. Serial fetal echocardiography and ultrasonography with Doppler flow measurements documented rapid growth of the SCT in both cases with a relatively modest increase in combined cardiac output. No placentomegaly or hydrops was observed at any time. In both fetuses with SCT, evolution of abnormal umbilical artery waveforms was observed with the ultimate development of reversed end-diastolic umbilical arterial flow that was followed by sudden fetal demise. Death in these 2 fetuses with large SCTs in the absence of placentomegaly/hydrops or hemodynamic changes suggestive of evolving high-output failure suggests a previously unrecognized mechanism of death in fetuses with large rapidly growing SCTs. In these cases, fetal demise may only be heralded by abnormal umbilical artery waveforms that progress to the premorbid observation of reversed diastolic umbilical artery blood flow. Umbilical artery waveform analysis should be closely monitored with other hemodynamic parameters in fetuses with large SCTs. In such fetuses, depending on the gestational age, abnormalities in umbilical artery waveform should be considered indications for early delivery or in utero intervention to prevent fetal demise. Copyright 2004 S. Karger AG, Basel

A Retrospective Study of Pilonidal Sinus Healing by Secondary Intention Using Negative Pressure Wound Therapy Versus Alginate or Gauze Dressings.

PubMed

Danne, Julia; Gwini, Stella; McKenzie, Dean; Danne, Peter

2017-03-01

Pilonidal sinus (PS) disease is an inflammatory skin and subcutaneous tissue condition that presents with infection, acute abscess, chronic discharging wounds, and/or pain. Surgery with open healing by secondary intention typically is used to achieve the fastest healing time with minimal recurrence rates. A retrospective analysis was conducted of data extracted from the medical records of 73 consecutive patients who had symptomatic natal cleft PS over a 10-year period to compare use of NPWT to alginate-based/gauze daily dressing (DD) changes in terms of healing time and recurrence. Variables extracted included age, gender, PS wound diameter (small <1 cm, medium 1 cm to 3 cm, large >3 cm), and time in weeks to achieving the endpoint (epithelialization). Risk factors examined that can affect healing or recurrence of previously operated PS disease included initial drainage before excision and risk factors for impaired healing (morbid obesity as determined by body mass index [BMI] ≥35, chronic infective skin conditions, and ongoing therapy with immuno-modulating drugs or chemotherapy), and loss to follow-up. Data were collected and analyzed using the chi-squared statistic, Kaplan-Meier curves, and Cox regression models. The total time of follow-up was 390 weeks for the DD group and 311 weeks for NPWT group. Patient mean age was 26.5 ± 10.7 years, most (53, 72.6%) were male, and 12 (16.4%) had comorbidities potentially affecting healing. Nine (9) were treated with primary closure and 62 patients were treated with open healing by secondary intention (2 additional patients receiving DD were excluded from the analysis because they had small sinuses that made NPWT unfeasible). Among participants, 30 (48%) received DD and 32 had NPWT. The median time to healing was 10 weeks (95% CI: 7-17) in the DD group and 8 weeks (95% CI: 7-9) in the NPWT group (not significantly different). In patients who healed, the average time to healing was 15.0 ± 18.1 and 9.8 ± 6.3 weeks in

The Long-Term Hospitalization Experience Following Military Service in the 1991 Gulf War Among Veterans Remaining on Active Duty, 1994-2004

DTIC Science & Technology

2008-02-13

16.1 Other disorders of breast 259 8.7 Disorders of lipoid metabolism 69 9.8 Other disorders of male genital organs 231 7.8 Nontoxic nodular goiter 56...1192) Other diseases of blood & blood-forming organs 54 26.5 Other cellulitis & abscess 559 46.9 Diseases of white blood cells 53 26.0 Pilonidal cyst

Most cited articles in general surgery from Turkey.

PubMed

Mayir, Burhan; Bilecik, Tuna; Doğan, Uğur; Koç, Ümit; Ensari, Cemal Özben; Oruç, Mehmet Tahir

2015-01-01

The citation number of an article gives us information about its quality and contribution to science. In this article, we aimed to find the most frequently cited article in general surgery from Turkey, and evaluate how these articles in general surgery contributed to the world literature. We used the science citation index expanded database to find the most frequently cited articles in general surgery from Turkey. Among the 52 articles found, the most common subjects were as follows: hydatid cyst (21.1%), pilonidal disease (15.4%), laparoscopic operations (15.4%), breast diseases (11.5%), and inguinal hernia (7.7%). Two articles were cited in more than 100 articles. Furthermore, 48.8% of the articles were published from three major cities. Most articles were published between 2000 and 2004, and 65.4% of articles were case series. Most of the cited articles were about hydatid cyst and pilonidal disease, which are more common in the Turkish population compared with other countries. Evaluation of most cited articles is important to identify the fields in which Turkey contributes to the world literature.

High Tumor Volume to Fetal Weight Ratio Is Associated with Worse Fetal Outcomes and Increased Maternal Risk in Fetuses with Sacrococcygeal Teratoma.

PubMed

Gebb, Juliana S; Khalek, Nahla; Qamar, Huma; Johnson, Mark P; Oliver, Edward R; Coleman, Beverly G; Peranteau, William H; Hedrick, Holly L; Flake, Alan W; Adzick, N Scott; Moldenhauer, Julie S

2018-03-01

Tumor volume to fetal weight ratio (TFR) > 0.12 before 24 weeks has been associated with poor outcome in fetuses with sacrococcygeal teratoma (SCT). We evaluated TFR in predicting poor fetal outcome and increased maternal operative risk in our cohort of SCT pregnancies. This is a retrospective, single-center review of fetuses seen with SCT from 1997 to 2015. Patients who chose termination of pregnancy (TOP), delivered elsewhere, or had initial evaluation at > 24 weeks were excluded. Receiver operating characteristic (ROC) analysis determined the optimal TFR to predict poor fetal outcome and increased maternal operative risk. Poor fetal outcome included fetal demise, neonatal demise, or fetal deterioration warranting open fetal surgery or delivery < 32 weeks. Increased maternal operative risk included cases necessitating open fetal surgery, classical cesarean delivery, or ex utero intrapartum treatment (EXIT). Of 139 pregnancies with SCT, 27 chose TOP, 14 delivered elsewhere, and 40 had initial evaluation at > 24 weeks. Thus, 58 fetuses were reviewed. ROC analysis revealed that at ≤24 weeks, TFR > 0.095 was predictive of poor fetal outcome and TFR > 0.12 was predictive of increased maternal operative risk. This study supports the use of TFR at ≤24 weeks for risk stratification of pregnancies with SCT. © 2018 S. Karger AG, Basel.

Measuring the depth of the caudal epidural space to prevent dural sac puncture during caudal block in children.

PubMed

Lee, Hyun Jeong; Min, Ji Young; Kim, Hyun Il; Byon, Hyo-Jin

2017-05-01

Caudal blocks are performed through the sacral hiatus in order to provide pain control in children undergoing lower abdominal surgery. During the block, it is important to avoid advancing the needle beyond the sacrococcygeal ligament too much to prevent unintended dural puncture. This study used demographic data to establish simple guidelines for predicting a safe needle depth in the caudal epidural space in children. A total of 141 children under 12 years old who had undergone lumbar-sacral magnetic resonance imaging were included. The T2 sagittal image that provided the best view of the sacrococcygeal membrane and the dural sac was chosen. We used Picture Achieving and Communication System (Centricity ® PACS, GE Healthcare Co.) to measure the distance between the sacrococcygeal ligament and the dural sac, the length of the sacrococcygeal ligament, and the maximum depth of the caudal space. There were strong correlations between age, weight, height, and BSA, and the distance between the sacrococcygeal ligament and dural sac, as well as the length of the sacrococcygeal ligament. Based on these findings, a simple formula to calculate the distance between the sacrococcygeal ligament and dural sac was developed: 25 × BSA (mm). This simple formula can accurately calculate the safe depth of the caudal epidural space to prevent unintended dural puncture during caudal block in children. However, further clinical studies based on this formula are needed to substantiate its utility. © 2017 John Wiley & Sons Ltd.

Development of an evidence-based protocol for care of pilonidal sinus wounds healing by secondary intent using a modified reactive Delphi procedure. Part one: the literature review*.

PubMed

Harris, Connie L; Holloway, Samantha

2012-04-01

This article is in two parts. The overall aim of this section was to review the literature in relation to pilonidal sinus wounds (PSW) healing by secondary intent for a Master's of Science in Wound Healing and Tissue Repair thesis. The purpose of the literature review was to determine if an evidence-based guideline or consensus document existed for the care of these wounds, and if not, to determine the topics from which to develop items for the first round of a modified reactive Delphi questionnaire. Part two will describe the iterative process, the analysis and the results. The review found no best practice guidelines concerning PSW, and only one clinical pathway. Seventeen areas of interest were identified that may contribute to optimal healing conditions or to delayed healing. These included microbiology of infected PSW, signs and symptoms of localised or deeper (spreading) chronic wound infection, swab for c&s, role of topical antiseptics or antimicrobials, systemic antibiotics, local wound interventions, optimal positioning, wound cleansing, principles of moist wound healing/dressing selection, topical negative pressure (TNP) therapy, peri-wound skin decontamination and depilation, pain control, physical activities, optimal nutrition and patient education. © 2011 The Authors. © 2011 Blackwell Publishing Ltd and Medicalhelplines.com Inc.

Medical Surveillance Monthly Report

DTIC Science & Technology

2016-04-01

diseases 50,913 (35) 29,810 (36) 22 (118) Contact dermatitis 49,907 (36) 36,087 (31) 81 (100) Respiratory infections Upper respiratory infections...and abscess 694 74.4 Pilonidal cyst 65 7.0 Cellulitis and abscess of fi nger and toe 57 6.1 Contact dermatitis and other eczema 22 2.4 Disorders...and hair follicles 38,888 18.0 Contact dermatitis and other eczema 32,437 15.0 Other cellulitis and abscess 28,644 13.3 Diseases of sebaceous glands

Medical Surveillance Monthly Report (MSMR). Volume 19, Number 4, April 2012

DTIC Science & Technology

2012-04-01

680 - 709) 1,978 Disorders of fl uid electrolyte and acid-base balance 242 32.3 Other cellulitis and abscess 1,442 72.9 Diabetes mellitus 225...30.0 Pilonidal cyst 164 8.3 Overweight, obesity and other hyperalimentation 60 8.0 Cellulitis and abscess of fi nger and toe 116 5.9 Nontoxic nodular...709) 204 Iron defi ciency anemias 39 35.5 Other cellulitis and abscess 116 56.9 Other and unspecifi ed anemias 19 17.3 Pilonidal cyst 18 8.8

The influence of age on positions of the conus medullaris, Tuffier's line, dural sac, and sacrococcygeal membrane in infants, children, adolescents, and young adults.

PubMed

Jung, Ji-Yun; Kim, Eun-Hee; Song, In-Kyung; Lee, Ji-Hyun; Kim, Hee-Soo; Kim, Jin-Tae

2016-12-01

The purpose of this study was to analyze the distances between the conus medullaris and the Tuffier's line, and between the dural sac and the sacrococcygeal membrane (SCM) in the same pediatric population. Spinal magnetic resonance images and simple X-ray images of 350 patients aged from 1 month to 20 years were reviewed. Positions of the conus medullaris, Tuffier's line, the dural sac, and the SCM were identified. Each position was recorded in relation to the corresponding vertebral body segments. The distances between the conus medullaris and Tuffier's line, and between the dural sac and the SCM, were measured and then assessed according to age using an analysis of variance and a linear regression analysis. The median levels of the conus medullaris and Tuffier's line were in the lower third of L1 [the first lumbar vertebral body] and the middle third of L5, respectively. The levels of the conus medullaris and Tuffier's line were lower in younger populations. The distance between the conus medullaris and Tuffier's line ranged from 1.5 to 4.75 vertebral body height. However, a narrow range of 1.5-2.5 vertebral height was observed only in children younger than 2 years. The level of the dural sac did not differ greatly by age, but the upper limit of the SCM was lower in older populations. The distance between the dural sac and the upper limit of the SCM increased with age. In children, there is a distance of 1.5-4.75 vertebral body height between the conus medullaris and the Tuffier's line. However, these distances were narrower among younger populations. The distance between the dural sac and the upper limit of the SCM increased with age. © 2016 John Wiley & Sons Ltd.

[Pilonidal sinus: an retrospective analysis of 205 cases].

PubMed

Castronovo, G; Ciulla, A; Urso, G; Tomasello, G; Damiani, S

2003-01-01

Sinus pilonidalis or the sacrococcigea cyst, normally is considered a "small surgical pathology" and actually it is controversial disease regarding its pathogenesis and treatment. Today the congenital hypothesis of this pathology is not considered. The etiopathogenesis exclude vestigia embryonic origin and consider it an inflammatory disease. Traumatism of the sacral region, hirsutism, hormonal secretion stimulating, and furrow sacral furrow cutaneous, explain the prevalence of this pathology in the male sex and in the puberale age. It usually appears after the pubertà and extension one various frequency of presentation in males sex (1.3%) regarding females (0.11%). The symptomatology can be rare or introduce itself in violent and intense way with on abscess of the region, or with only or multiple fistulas orifices from which exit materialclarly purulent. Normally cystic cavity is one, situated in the subcutaneous tissue with annexed inflammatory phenomena. This cavity to times communicates with the skyn fistulating. The treatment of election is surgical and must weighted and be regulated in relation to the entity of the lesion and its inflammatory picture. Sometimes the medical therapy with anti-inflammatory and antibiotic is not control the symptomatology and it need the surgical treatment.

Outcome of management of complicated extragonadal teratoma in a resource poor setting.

PubMed

Abdur-Rahman, L O; Baba, Suleiman; Bamigbola, K T; Olaoye, I; Oyinloye, A O; Nasir, A A; Adeniran, J O

2013-01-01

Extragonadal teratomas (EXGTs) are ubiquitous in the human body; hence, they have varied presentation. In underdeveloped areas presentation and management are affected by socio-economic, cultural and health facilities factors. The aim of this study was to review the outcome of management of complicated EXGT in a tertiary health centre. A review data of paediatric patients with EXGT was done between January 1999 and December 2012. Variables reviewed were bio-data, mode of presentation and site of tumour, comorbidity, treatments and outcome. The data was analysed with Statistical Package for Social Sciences (SPSS (R)) version 16.0. There were 21 complicated EXGT (77.8%) among 27 children, age ranges from 4 days to 16 years (median = 2 years). Male:Female ratio of 1:2. The complications per region of the body at presentation were cervical 4 (66.7%), mediastinal 2 (100%), abdominal 3 (75%) and sacrococcygeal 12 (75%). The complications were respiratory distress 6, intestinal obstruction 5, faecal incontinence 2, bladder outlet obstruction 3, malignant transformation 5, ruptured sacrococcygeal teratoma 2, ulcerated tumour 2, anaemia 3 and malnutrition 3. There were 5 (23.8%) progressive disease post-excision outside our facility. Excision biopsy was successful in 19 (85%) patients two of which had neoadjuvant cytotoxic therapy. Overall mortality was 5 (23.8%) (septicaemia, anaemia, respiratory distress, renal failure) and post-excision mortality was 11.8% (endotracheal tube blockage and progressive disease). Delay presentation (due to local belief, ignorance and poverty) malnutrition, sepsis, malignant transformation characterised presentation of children in this study and the lack of paediatric intensive care unit facility and intensivists compromised survival of children with EXGT.

Is it the Monster “Teratoma” or Simply Meningomyelocele: Our Experience of “Histological Surprise”

PubMed Central

Singh, Suyash; Sardhara, Jayesh; Sharma, Pradeep; Srivastava, Arun Kumar; Das, Kuntal Kanti; Bhaisora, Kamlesh S.; Mehrotra, Anant; Jaiswal, Awadhesh Kumar; Behari, Sanjay; Kumar, Raj

2017-01-01

Teratomas are one of the most common tumors in newborn with excellent prognosis arises from totipotent primordial germ cells harboring two or three germ cell layers. The tumor has been titled “Great masquerade.” The teratomas of sacrococcygeal region present with lower limb weakness, urinary or bowel obstruction, and swelling at lower back or intrauterine mass in ultrasound or complicated delivery. A 2-month-old male child presented with complaints of swelling over lumbosacral region with discharging punctum since birth. Sagittal T2-weighted magnetic resonance imaging (MRI) of the spine showed myelocele at L5 level forming placode with central defect at L4-S1 and low-lying tethered cord up to L4–L5. The patient was operated, and histopathology surprisingly came to be mature teratoma. We followed the patient with serum beta human chorionic gonadotropin and alpha-fetoprotein markers and MRI. Literature supports complete surgical removal, including coccyx and tumor base. Mature teratoma is considered as benign disease thus even subtotal excision is appropriate but with aggressive follow-up. The difference in recurrence following total compared to subtotal resection is considered insignificant. In this article, we have discussed the management of teratoma in detail. Teratoma with meningomyelocele is a rare entity. There is still dilemma in managing cases and prognosticating parents in such patients. The provisional diagnosis of teratoma should also be considered when child presents as midline sacrococcygeal mass. PMID:28904585

Influence of Incision Location on Transmitter Loss, Healing, Incision Lengths, Suture Retention, and Growth of Juvenile Chinook Salmon

DTIC Science & Technology

2010-05-01

transmitters in rainbow trout. North American Journal of Fisheries Management 19:152–154. Bunnell DB, JJ Iseley, KH Burrell, and DH Van Lear . 1998. Diel... King , J Bruce, and A Al-Khamis. 2007. Healing by primary versus secondary intention after surgical treatment for pilonidal sinus. Cochrane Database

Study populations and casemix: influence on analysis of postoperative outcomes.

PubMed

Isbister, W H

2000-04-01

The importance of patient casemix as a determinant of surgical outcome is now being recognized. The present study was undertaken in order to compare the presentation and outcomes in colorectal patients managed surgically by the same surgeon, in the same way, in different settings. Colorectal outcome data from the University Department of Surgery in Wellington and the King Faisal Specialist Hospital in Riyadh were analysed in order to determine casemix differences between the two hospitals. Data relating to the type of surgery, the surgeon, the patient's disease, the operation performed and the postoperative complications were compared. Specific colorectal clinical indicators were compared for two commonly performed operations for rectal cancer: anterior resection and abdomino-perineal resection of the rectum. Wellington patients were slightly older and there were more females. Emergency surgery was more frequent in Wellington. Left hemicolectomy, sigmoid colectomy, abscess drainage and pilonidal surgery were more common in Wellington whereas abdomino-perineal resection and anterior resection of the rectum, stoma closure, fistula surgery, seton insertion, restorative proctocolectomy and ileostomy were undertaken more frequently in Riyadh. More complex anal fistulas were managed in Riyadh. Condylomata accuminata, pilonidal abscess, anorectal abscess, rectal prolapse and diverticular disease were rarely seen in Riyadh. There were more postoperative pulmonary and cardiac complications in Wellington. Patients having anterior resection of the rectum were younger in Riyadh and there were proportionally more females. There were some obvious numerical outcome differences in postoperative atelectasis, wound infection, anastomotic leak and deep vein thrombosis rates but none of these reached statistical significance except atelectasis. In Riyadh the usual male-to-female ratio of patients undergoing abdomino-perineal resection was reversed but, again, none of the numerical

Diseases associated with hidranitis suppurativa: part 2 of a series on hidradenitis.

PubMed

Scheinfeld, Noah

2013-06-15

Hidradenitis suppurativa (HS), a pathologic follicular disease, impacts patients' lives profoundly and usually occurs in isolation. The diseases with the strongest association are obesity, depression, and pain. HS is associated with many diseases including acne conglobata (AC), dissecting cellulitis, pilonidal cysts, and obesity. Pyoderma fistulans sinifica (fox den disease) appears to be the same entity as Hurley Stage 2 of 3 HS. The rate of acne vulgaris in HS patients mirrors unaffected controls. The most common, albeit still uncommon, association is with seronegative, haplotype unlinked arthritis (most importantly B27), in particular spondolyarthritis. Crohn disease and HS occur together at a rate that varies from 0.6% to 38% in retrospective cases series. Ulcerative colitis occurred with HS in 14% of patients in one series. The next most common association is with pyoderma gangrenosum, but this association is likely under-reported. Synovitis-Acne-Pustulosis Hyperostosis-Osteitis (SAPHO) syndrome, which is rare, has more than 10 reports linking it to HS. Nine case reports have linked Dowling-Degos disease (DDD) to HS and two reports related HS to Fox-Fordyce disease (FF), but because both occur in the axilla this might be a mere coincidence. HS is rarely associated with ophthalmic pathology. Specifically, more than 5 reports link it to Keratitis-Ichthyosis-Deafness syndrome (KID); greater than10 cases link it to interstitial keratitis and 2 cases are linked to Behçet's disease. The presence of proteinuria and acute nephritis link HS to the kidney, especially since and reports have documented resolution of HS after renal transplant. Florid steatocystoma multiplex, Sjogren Syndrome, and HS have been linked and their reports likely underestimate their coincidence because all these entities involve occlusion (albeit by different mechanisms). Three reports link HS and amyloid, but both share some common genetic underpinnings and thus the coincidence of these

Pressure injury prediction using diffusely scattered light

NASA Astrophysics Data System (ADS)

Diaz, David; Lafontant, Alec; Neidrauer, Michael; Weingarten, Michael S.; DiMaria-Ghalili, Rose Ann; Scruggs, Ericka; Rece, Julianne; Fried, Guy W.; Kuzmin, Vladimir L.; Zubkov, Leonid

2017-02-01

Pressure injuries (PIs) originate beneath the surface of the skin at the interface between bone and soft tissue. We used diffuse correlation spectroscopy (DCS) and diffuse near-infrared spectroscopy (DNIRS) to predict the development of PIs by measuring dermal and subcutaneous red cell motion and optical absorption and scattering properties in 11 spinal cord injury subjects with only nonbleachable redness in the sacrococcygeal area in a rehabilitation hospital and 20 healthy volunteers. A custom optical probe was developed to obtain continuous DCS and DNIRS data from sacrococcygeal tissue while the subjects were placed in supine and lateral positions to apply pressure from body weight and to release pressure, respectively. Rehabilitation patients were measured up to four times over a two-week period. Three rehabilitation patients developed open PIs (POs) within four weeks and eight patients did not (PNOs). Temporal correlation functions in the area of redness were significantly different (p<0.01) during both baseline and applied pressure stages for POs and PNOs. The results show that our optical method may be used for the early prediction of ulcer progression.

Should hidradenitis suppurativa/acne inversa best be renamed as "dissecting terminal hair folliculitis"?

PubMed

Chen, WenChieh; Plewig, Gerd

2017-06-01

Hidradenitis suppurativa/acne inversa is a diverse, enigmatic and distressful disease that has aroused growing interest in specialists from different disciplines. Both names describe its classical manifestations in the intertriginous regions and reflect the historical view of the disease definition, but cause confusions in the understanding of its pathogenesis and classification. In the light of the advance in clinical, histopathological and pathophysiological findings, we propose the term "dissecting terminal hair folliculitis" (DTHF) to characterize its disease nature as folliculitis instead of acneiform disease or apocrine gland disorder. DTHF attacks exclusively the terminal hair follicles in an overwhelming majority of adults, initiating from the fragile acroinfundibulum leading to a non-infectious overreaction of innate immunity system with inflammation that may fiercely dissect and engulf all the surrounding tissues accompanied by secondary bacterial infections. Evidence indicates that perifolliculitis capitis abscedens et suffodiens and pilonidal disease are very likely regional variants of DTHF with the same pathogenesis. Treatment of DTHF remains frustrating. The benefit of biologics in targeting inflammation is so far non-specific, palliative and inconsistent. Hair epilation and photodynamic therapy in treatment of the disease is questionable in consideration of the pathogenesis. Genetic and translational research, especially on the Notch signalling pathways, will yield breakthrough in the development of novel treatment modalities. © 2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

An Analysis of the Surgery Scheduling Process at Madigan Army Medical Center, Tacoma, Washington

DTIC Science & Technology

1986-07-29

CODE Incision and Drainage (I&D) 10060 of Abscess I&D of Abscess Complicated 10061 I&D of Pilonidal Cyst 10080 Debridement 11044 Skin Biopsy 11100...Unilateral 60220 Parathyroidectomy 60500 Craniotomy , Supratentorial 61310 Intracranial Aneurysm, Carotid 61700 Circulation Lumbar Laminectomy 62297...SURGICAL PRE/POST-OP SURGERY PRE/POST-OP TOTAL CASE CODE NURSING PREP ANESTHESIA SURGERY TIME Incision and 10060 23 13 22 33 91 Drainage (I&D) of Abscess I

Hospitalizations Among Members of the Active Component, U.S. Armed Forces, 2011

DTIC Science & Technology

2012-04-01

immunity (240 - 279) 749 Skin and subcutaneous tissue (680 - 709) 1,978 Disorders of fl uid electrolyte and acid-base balance 242 32.3 Other cellulitis ...and abscess 1,442 72.9 Diabetes mellitus 225 30.0 Pilonidal cyst 164 8.3 Overweight, obesity and other hyperalimentation 60 8.0 Cellulitis and...280 - 289) 110 Skin and subcutaneous tissue (680 - 709) 204 Iron defi ciency anemias 39 35.5 Other cellulitis and abscess 116 56.9 Other and

Unconventional use of intense pulsed light.

PubMed

Piccolo, D; Di Marcantonio, D; Crisman, G; Cannarozzo, G; Sannino, M; Chiricozzi, A; Chimenti, S

2014-01-01

According to the literature, intense pulsed light (IPL) represents a versatile tool in the treatment of some dermatological conditions (i.e., pigmentation disorders, hair removal, and acne), due to its wide range of wavelengths. The authors herein report on 58 unconventional but effective uses of IPL in several cutaneous diseases, such as rosacea (10 cases), port-wine stain (PWS) (10 cases), disseminated porokeratosis (10 cases), pilonidal cyst (3 cases), seborrheic keratosis (10 cases), hypertrophic scar (5 cases) and keloid scar (5 cases), Becker's nevus (2 cases), hidradenitis suppurativa (2 cases), and sarcoidosis (1 case). Our results should suggest that IPL could represent a valid therapeutic support and option by providing excellent outcomes and low side effects, even though it should be underlined that the use and the effectiveness of IPL are strongly related to the operator's experience (acquired by attempting at least one specific course on the use of IPL and one-year experience in a specialized centre). Moreover, the daily use of these devices will surely increase clinical experience and provide new information, thus enhancing long-term results and improving IPL effectiveness.

A System Approach to Navy Medical Education and Training. Appendix 11. Advanced General Duty Corpsman.

DTIC Science & Technology

1974-08-31

PILONIDAL CYST /ABSCESS TURN PAGE LEFT PtS7 OF & CED GENERAL TASK BC(KLET TASK N-. I ENTEO RESPONSES TO STATEmENTS PELOo I’! LEFT SIIE ’F Oij, 03 ( fF PESP7...NSE BrKLET I IPRESCPIBE TREATMENT FOR PILO\\IOAL CYST /49SCESS 2 IOBSEQVE FrC/REPORT SYMPTOMS OF INTESTINAL wCtS 3 IMAKE PRELIMINARY DIEGNOSIS CF A4EIC...INGROWN NAIL 45 IEXTRACT SEBACEOUS MATERIAL FROM COMEDO 46 ITRIM CORNS/CALLUSES 47 IEXCISE SEBACEOUS CYST /LIPOMA 48 IEXCISE POLYP 49 IGIVE CARE TO BURN

Unconventional Use of Intense Pulsed Light

PubMed Central

Piccolo, D.; Di Marcantonio, D.; Crisman, G.; Cannarozzo, G.; Sannino, M.; Chiricozzi, A.; Chimenti, S.

2014-01-01

According to the literature, intense pulsed light (IPL) represents a versatile tool in the treatment of some dermatological conditions (i.e., pigmentation disorders, hair removal, and acne), due to its wide range of wavelengths. The authors herein report on 58 unconventional but effective uses of IPL in several cutaneous diseases, such as rosacea (10 cases), port-wine stain (PWS) (10 cases), disseminated porokeratosis (10 cases), pilonidal cyst (3 cases), seborrheic keratosis (10 cases), hypertrophic scar (5 cases) and keloid scar (5 cases), Becker's nevus (2 cases), hidradenitis suppurativa (2 cases), and sarcoidosis (1 case). Our results should suggest that IPL could represent a valid therapeutic support and option by providing excellent outcomes and low side effects, even though it should be underlined that the use and the effectiveness of IPL are strongly related to the operator's experience (acquired by attempting at least one specific course on the use of IPL and one-year experience in a specialized centre). Moreover, the daily use of these devices will surely increase clinical experience and provide new information, thus enhancing long-term results and improving IPL effectiveness. PMID:25276803

Catastrophic Intramedullary Abscess Caused by a Missed Congenital Dermal Sinus

PubMed Central

Dho, Yun-Sik; Kim, Seung-Ki; Wang, Kyu-Chang

2015-01-01

Congenital dermal sinus (CDS) is a type of occult spinal dysraphism characterized by a midline skin dimple. A 12-month-old girl presented with fever and ascending quadriparesis. She had a midline skin dimple in the upper sacral area that had been discovered in her neonatal period. Imaging studies revealed a holocord intramedullary abscess and CDS. Overlooking CDS or misdiagnosing it as benign sacrococcygeal dimple may lead to catastrophic infection and cause serious neurological deficits. Therefore, further imaging work-up or consultation with a pediatric neurosurgeon is recommended following discovery of any atypical-looking dimples in the midline. PMID:25810867

Short convalescence and minimal pain after out-patient Bascom's pit-pick operation.

PubMed

Colov, Emilie Palmgren; Bertelsen, Claus Anders

2011-12-01

Treatment of pilonidal sinuses with Bascom's pit-pick operation can easily be performed under local analgesia. We describe pain during and after the operation, time to return to work, time to healing and success rate. The study comprised a cohort of 75 primary pit-pick (PP) operations performed at our department between August 2007 and December 2009. The median age was 30 years (range 15-64 years) and 57 (76%) were male. A total of 55 patients were interviewed daily by phone for one week with a view to registering their ability to return to work and their scoring of maximum pain on a numerical rating scale with a pain score ranging from 0 (no pain) to 10. The mean maximum pain during the first post-operative day was 2.2 (95% confidence interval (CI) 1.8-2.7) and at day four 1.0 (CI 0.7-1.3). Within 24 hours, 51% could return to work and the mean time was 3.2 (CI 1.8-4.5) days. Postoperative infection was related to the presence of secondary sinus (p = 0.03) and increasing number of midline sinus excisions (p = 0.02). Complete wound healing was achieved in 84% of the patients after a mean period of 3.5 (CI 3.1-3.9) weeks. Incomplete wound healing was significantly related to a small number of PPs (p < 0.05), increasing number of midline sinus excisions (p < 0.05) and no postoperative infection (p = 0.01). At one-year follow-up 80% were considered successfully treated. The majority of patients with simple pilonidal sinuses can be treated successfully with Bascom's PP procedure as out-patients. This regimen causes only mild postoperative pain and patients can resume work after a few days. not relevant. not relevant.

Conflicts in wound classification of neonatal operations.

PubMed

Vu, Lan T; Nobuhara, Kerilyn K; Lee, Hanmin; Farmer, Diana L

2009-06-01

This study sought to determine the reliability of wound classification guidelines when applied to neonatal operations. This study is a cross-sectional web-based survey of pediatric surgeons. From a random sample of 22 neonatal operations, participants classified each operation as "clean," "clean-contaminated," "contaminated," or "dirty or infected," and specified duration of perioperative antibiotics as "none," "single preoperative," "24 hours," or ">24 hours." Unweighted kappa score was calculated to estimate interrater reliability. Overall interrater reliability for wound classification was poor (kappa = 0.30). The following operations were classified as clean: pyloromyotomy, resection of sequestration, resection of sacrococcygeal teratoma, oophorectomy, and immediate repair of omphalocele; as clean-contaminated: Ladd procedure, bowel resection for midgut volvulus and meconium peritonitis, fistula ligation of tracheoesophageal fistula, primary esophageal anastomosis of esophageal atresia, thoracic lobectomy, staged closure of gastroschisis, delayed repair and primary closure of omphalocele, perineal anoplasty and diverting colostomy for imperforate anus, anal pull-through for Hirschsprung disease, and colostomy closure; and as dirty: perforated necrotizing enterocolitis. There is poor consensus on how neonatal operations are classified based on contamination. An improved classification system will provide more accurate risk assessment for development of surgical site infections and identify neonates who would benefit from antibiotic prophylaxis.

[Clinical application of continuous douche and vacuum sealing drainage in refractory tissue, bone and joint infections after debridement].

PubMed

Yang, Ping-lin; He, Xi-jing; Li, Hao-peng; Wang, Guo-yu; Zang, Quan-jin

2010-01-01

To explore effect and the application value of continuous douche and vacuum sealing drainage (VSD) in refractory tissue, and joint infections after complete debridement. As retrospective analysis of treatment time and restoration or recurrence, from Jan. 2006 to Dec. 2007, 61 cases of refractory tissue, bone and joint infections underwent continuous douche and VSD combined with the treatment of anti-inflammatory and rehabilitation training after debridement in our hospital. The 61 patients included 39 males and 22 females with age ranging from 10 to 58 years with an average of (35 +/- 12) years, among whom 61 identified to have ankle ulcers combined with infections,open fracture combined with infections, sacrococcygeal pressure ulcers combined with infections, infections after hip replacement, infections after open fracture, and infections after skin avulsion postoperation were 11, 15, 9, 3, 5 and 18 cases respectively. The course was from 2 weeks to 11 months with an average of 4 months. In all 61 patients,the mean healing time was 17, 36, 42, 24, 32, 29 and 28 days in ankle ulcers and infections, tibia and fibula open fracture and infections, femoral shaft fracture and infections, sacrococcygeal pressure ulcers and infections, infections after hip replacement, infections after open fracture, and infections after skin avulsion postoperation respectively. The replacement of VSD was 1, 2-4, 3-5, 1-3, 2-4, 2-3 and 1-3 times in each group respectively. There was no wound recurrence except for 2 cases with recurrent in 61 cases with external fixation nail hole semi-pathological fracture in 1 case of femoral shaft fracture and infection and 1 case of tibia and fibula fracture and infection after follow-up at least one year. Application of continuous douche and VSD can effectively decrease incidence of complications and promote the refractory tissue, bone and joint infections wound growth, healing and considerably shorten the healing time.

Inference of domain-disease associations from domain-protein, protein-disease and disease-disease relationships.

PubMed

Zhang, Wangshu; Coba, Marcelo P; Sun, Fengzhu

2016-01-11

Protein domains can be viewed as portable units of biological function that defines the functional properties of proteins. Therefore, if a protein is associated with a disease, protein domains might also be associated and define disease endophenotypes. However, knowledge about such domain-disease relationships is rarely available. Thus, identification of domains associated with human diseases would greatly improve our understanding of the mechanism of human complex diseases and further improve the prevention, diagnosis and treatment of these diseases. Based on phenotypic similarities among diseases, we first group diseases into overlapping modules. We then develop a framework to infer associations between domains and diseases through known relationships between diseases and modules, domains and proteins, as well as proteins and disease modules. Different methods including Association, Maximum likelihood estimation (MLE), Domain-disease pair exclusion analysis (DPEA), Bayesian, and Parsimonious explanation (PE) approaches are developed to predict domain-disease associations. We demonstrate the effectiveness of all the five approaches via a series of validation experiments, and show the robustness of the MLE, Bayesian and PE approaches to the involved parameters. We also study the effects of disease modularization in inferring novel domain-disease associations. Through validation, the AUC (Area Under the operating characteristic Curve) scores for Bayesian, MLE, DPEA, PE, and Association approaches are 0.86, 0.84, 0.83, 0.83 and 0.79, respectively, indicating the usefulness of these approaches for predicting domain-disease relationships. Finally, we choose the Bayesian approach to infer domains associated with two common diseases, Crohn's disease and type 2 diabetes. The Bayesian approach has the best performance for the inference of domain-disease relationships. The predicted landscape between domains and diseases provides a more detailed view about the disease

Partial trisomy 12q24.31----qter.

PubMed Central

Tajara, E H; Varella-Garcia, M; Gusson, A C

1985-01-01

Clinical details of a male child with the karyotype 46,XY,-4,+der(4),t(4;12) (p16;q24.31)mat are reported and compared with those of other known cases of partial trisomy of the distal region of 12q. This condition is apparently associated with mental and psychomotor retardation, widely spaced eyes, flat nasal bridge, low set ears, down-turned mouth, micrognathia, loose skin at the nape, widely spaced nipples, simian creases, clinodactyly, abnormalities of the genitourinary system, alterations in the sacrococcygeal region, and deformities of the lower limbs. In the majority of the reported cases, the break-point was in the 12q24 region and resulted from adjacent 1 segregation of a maternal balanced translocation. Images PMID:3981585

Disease networks. Uncovering disease-disease relationships through the incomplete interactome.

PubMed

Menche, Jörg; Sharma, Amitabh; Kitsak, Maksim; Ghiassian, Susan Dina; Vidal, Marc; Loscalzo, Joseph; Barabási, Albert-László

2015-02-20

According to the disease module hypothesis, the cellular components associated with a disease segregate in the same neighborhood of the human interactome, the map of biologically relevant molecular interactions. Yet, given the incompleteness of the interactome and the limited knowledge of disease-associated genes, it is not obvious if the available data have sufficient coverage to map out modules associated with each disease. Here we derive mathematical conditions for the identifiability of disease modules and show that the network-based location of each disease module determines its pathobiological relationship to other diseases. For example, diseases with overlapping network modules show significant coexpression patterns, symptom similarity, and comorbidity, whereas diseases residing in separated network neighborhoods are phenotypically distinct. These tools represent an interactome-based platform to predict molecular commonalities between phenotypically related diseases, even if they do not share primary disease genes. Copyright © 2015, American Association for the Advancement of Science.

Unusual benign polypoid and papular neoplasms and tumor-like lesions of the vulva.

PubMed

AbdullGaffar, Badr; Keloth, Tasnim R; Raman, Lakshmiah G; Mahmood, Suaad; Almulla, Amal; AlMarzouqi, Mamoun; Al-Hasani, Salam

2014-04-01

We aimed to investigate the prevalence and spectrum of unusual benign neoplasms and tumor-like lesions presenting as vulvar polyps and papules, to study their clinical, pathologic, hormonal, and developmental features and whether they have important associations with other pathologic lesions or clinical diseases. We conducted a retrospective review study of 115 vulvar specimens over 7 years. Common lesions, for example, fibroepithelial polyps, skin tags, papillomas, abscesses, viral warts and common cysts, were excluded. We found 21 cases (18%) with uncommon benign vulvar lesions. They included 7 epithelial cysts, 3 vascular lesions, 3 glandular neoplasms, 3 endometrioses, 1 caruncle, 1 pilonidal sinus, 1 prolapsed urethra, 1 seborrheic keratosis, and 1 granular cell tumor. The age range was between 1 and 64 years with a mean age of 33 years. Most (86%) were 2.5 cm or less. Many were asymptomatic incidental pathologic findings that can be missed clinically. Nine cases have important clinical associations or coexisting incidental pathologic lesions. Some lesions demonstrated hormone receptors. Some were clinically confused with fibroepithelial polyps, abscesses, warts, melanocytic lesions, and tumors. In conclusion, although the vulva is a small compartment, its developmental and histologic complexity can result in a variety of unusual and rare benign polypoid and papular lesions, some unique to the vulva, which might present diagnostic challenges to the clinicians and pathologists. In addition, many bear controversy regarding their histogenesis and origin of development in the vulva. Copyright © 2014 Elsevier Inc. All rights reserved.

Differences in sex distribution, anatomic location and MR imaging appearance of pediatric compared to adult chordomas.

PubMed

Sebro, Ronnie; DeLaney, Thomas; Hornicek, Francis; Schwab, Joseph; Choy, Edwin; Nielsen, G Petur; Rosenthal, Daniel I

2016-09-08

Chordomas are rare malignancies that primarily affect adults, but also rarely affect pediatric patients. We compared the imaging appearance, demographic and anatomic distributions of adult and pediatric chordomas in a large cohort. We performed a retrospective review of medical records of 220 subjects with histologically confirmed chordomas of the axial skeleton and pre-treatment magnetic resonance imaging studies. Age, sex, type of chordoma (conventional, chondroid or dedifferentiated), the anatomic location of the chordoma, as well as whether the lesion was primarily extra-osseous were recorded. Pediatric subjects were less than 21 years at the time of diagnosis. Binomial two-sample tests of proportions and Fisher's exact tests were used to compare proportions between the pediatric and adult subjects. Fifty six pediatric subjects (58.9 % female) and 164 adult subjects (42.1 % female) were identified. The proportion of female subjects with chordomas was significantly higher in the pediatric cohort compared to the adult cohort (P = 0.04). Most chordomas occur in Caucasians, however African-Americans were more represented in the pediatric cohort than in the adult cohort (P = 0.01). 69.6 % (39/56) of the pediatric chordomas involved the clivus/skull base and cervical spine compared to 29.3 % (48/164) of the adult chordomas (P = 1.99 × 10(-7)). Only 1.8 % (1/56) of the pediatric chordomas was in the sacrococcygeal region compared to 36.0 % (59/164) of the adult chordomas (P = 2.55 × 10(-8)). In cases where pre-treatment imaging was available, 93.8 % (16/17) of pediatric chordomas were predominantly extra-osseous compared to 76.7 % (46/60) of adult chordomas (P = 0.17). Pediatric chordomas more often affect females and occur most frequently at the craniocervical junction with decrease in incidence distally in the spine, whereas adult chordomas most frequently involve the craniocervical and sacrococcygeal regions.

Some Important Diseases of Tree Fruits - Diseases of Vegetable Crops - Diseases of Grapes - Diseases of Tree Nuts.

ERIC Educational Resources Information Center

Petersen, Donald H.; And Others

This agriculture extension service publication from Pennsylvania State University consists of four sections on plant disease recognition and control. The titles of these four sections are: (1) Some Important Diseases of Tree Fruits; (2) Diseases of Vegetable Crops; (3) Diseases of Crops; and (4) Diseases of Tree Nuts. The first section discusses…

Renal disease in patients with celiac disease.

PubMed

Boonpheng, Boonphiphop; Cheungpasitporn, Wisit; Wijarnpreecha, Karn

2018-04-01

Celiac disease, an inflammatory disease of small bowel caused by sensitivity to dietary gluten and related protein, affects approximately 0.5-1% of the population in the Western world. Extra-intestinal symptoms and associated diseases are increasingly recognized including diabetes mellitus type 1, thyroid disease, dermatitis herpetiformis and ataxia. There have also been a number of reports of various types of renal involvement in patients with celiac disease including diabetes nephropathy, IgA nephropathy, membranous nephropathy, membranoproliferative glomerulonephritis, nephrotic syndrome related to malabsorption, oxalate nephropathy, and associations of celiac disease with chronic kidney disease and end-stage kidney disease. This review aims to present the current literature on possible pathologic mechanisms underlying renal disease in patients with celiac disease.

Back and face involvement in hidradenitis suppurativa.

PubMed

Poli, Florence; Wolkenstein, Pierre; Revuz, Jean

2010-01-01

Hidradenitis suppurativa (HS) may be associated with face and back lesions which are considered as acne. To describe the skin lesions of a group of patients with HS. Twelve patients were selected from a series of 648 patients on the basis of their specific skin lesions. The patients (mostly male) had typical hidradenitis. On their face or back they had one or several of the following skin lesions which are not seen in acne: hypertrophic rope-like bridged scars, raised plaques with multiple carbuncle-like openings or with ulcerations, 'worm-eaten scars' and coalescent nodules with round ulcerations. All patients had deep round scars. Several had a pilonidal cyst or large epidermal cysts. Isotretinoin had been used by 7 patients with no effect. Some HS patients have specific lesions of the face and back which are not acne and have to be treated differently. Copyright 2010 S. Karger AG, Basel.

Inflammatory bowel disease and airway diseases.

PubMed

Vutcovici, Maria; Brassard, Paul; Bitton, Alain

2016-09-14

Airway diseases are the most commonly described lung manifestations of inflammatory bowel disease (IBD). However, the similarities in disease pathogenesis and the sharing of important environmental risk factors and genetic susceptibility suggest that there is a complex interplay between IBD and airway diseases. Recent evidence of IBD occurrence among patients with airway diseases and the higher than estimated prevalence of subclinical airway injuries among IBD patients support the hypothesis of a two-way association. Future research efforts should be directed toward further exploration of this association, as airway diseases are highly prevalent conditions with a substantial public health impact.

[Periodontal disease in pediatric rheumatic diseases].

PubMed

Fabri, Gisele M C; Savioli, Cynthia; Siqueira, José T; Campos, Lucia M; Bonfá, Eloisa; Silva, Clovis A

2014-01-01

Gingivitis and periodontitis are immunoinflammatory periodontal diseases characterized by chronic localized infections usually associated with insidious inflammation This narrative review discusses periodontal diseases and mechanisms influencing the immune response and autoimmunity in pediatric rheumatic diseases (PRD), particularly juvenile idiopathic arthritis (JIA), childhood-onset systemic lupus erythematosus (C-SLE) and juvenile dermatomyositis (JDM). Gingivitis was more frequently observed in these diseases compared to health controls, whereas periodontitis was a rare finding. In JIA patients, gingivitis and periodontitis were related to mechanical factors, chronic arthritis with functional disability, dysregulation of the immunoinflammatory response, diet and drugs, mainly corticosteroids and cyclosporine. In C-SLE, gingivitis was associated with longer disease period, high doses of corticosteroids, B-cell hyperactivation and immunoglobulin G elevation. There are scarce data on periodontal diseases in JDM population, and a unique gingival pattern, characterized by gingival erythema, capillary dilation and bush-loop formation, was observed in active patients. In conclusion, gingivitis was the most common periodontal disease in PRD. The observed association with disease activity reinforces the need for future studies to determine if resolution of this complication will influence disease course or severity. Copyright © 2014 Elsevier Editora Ltda. All rights reserved.

A congenital true teratoma with cleft lip, palate, and columellar sinus.

PubMed

Işken, Tonguç; Alagöz, M Sahin; Günlemez, Ayla; Unal, Ciğdem; Sen, Cenk; Onyedi, Murat; Işil, Eda; Izmirli, Hakki; Yücel, Ergin

2007-09-01

Teratomas, the most common extragonadal germ cell tumor of childhood, involve at least two of the ectodermal, mesodermal, and endodermal layers. Of the teratomas seen in the first 2 months of life, 82% are sacrococcygeal. The head and neck region is the second most common location for teratomas in early infancy, accounting for five (14%) of those cases. We describe a female neonate with a teratoma of the nasopharyngeal area, bilateral cleft palate/lip, and columellar sinus pathologies. The mass, which was 8 x 5 x 7 cm and soft in consistency, blocked the airway and prevented oral feeding. On macroscopic examination of the excised mass, there was a notable typical cilia arrangement and lower eyelid appearance. The patient, who was diagnosed with a well-differentiated teratoma after the pathologic examination, did not have any complications in the postoperative period.

Coronary Artery Disease - Coronary Heart Disease

MedlinePlus

... disease even for nonsmokers. Learn about smoking and cardiovascular disease High blood cholesterol As blood cholesterol rises, so ... Overweight and obese adults with risk factors for cardiovascular disease such as high blood pressure, high cholesterol, or ...

Cerebral Small Vessel Disease and Chronic Kidney Disease

PubMed Central

2015-01-01

Chronic kidney disease, defined by a decreased glomerular filtration rate or albuminuria, is recognized as a major global health burden, mainly because it is an established risk factor for cardiovascular and cerebrovascular diseases. The magnitude of the effect of chronic kidney disease on incident stroke seems to be higher in persons of Asian ethnicity. Since the kidney and brain share unique susceptibilities to vascular injury due to similar anatomical and functional features of small artery diseases, kidney impairment can be predictive of the presence and severity of cerebral small vessel diseases. Chronic kidney disease has been reported to be associated with silent brain infarcts, cerebral white matter lesions, and cerebral microbleeds, independently of vascular risk factors. In addition, chronic kidney disease affects cognitive function, partly via the high prevalence of cerebral small vessel diseases. Retinal artery disease also has an independent relationship with chronic kidney disease and cognitive impairment. Stroke experts are no longer allowed to be ignorant of chronic kidney disease. Close liaison between neurologists and nephrologists can improve the management of cerebral small vessel diseases in kidney patients. PMID:25692105

Large-Scale Discovery of Disease-Disease and Disease-Gene Associations

PubMed Central

Gligorijevic, Djordje; Stojanovic, Jelena; Djuric, Nemanja; Radosavljevic, Vladan; Grbovic, Mihajlo; Kulathinal, Rob J.; Obradovic, Zoran

2016-01-01

Data-driven phenotype analyses on Electronic Health Record (EHR) data have recently drawn benefits across many areas of clinical practice, uncovering new links in the medical sciences that can potentially affect the well-being of millions of patients. In this paper, EHR data is used to discover novel relationships between diseases by studying their comorbidities (co-occurrences in patients). A novel embedding model is designed to extract knowledge from disease comorbidities by learning from a large-scale EHR database comprising more than 35 million inpatient cases spanning nearly a decade, revealing significant improvements on disease phenotyping over current computational approaches. In addition, the use of the proposed methodology is extended to discover novel disease-gene associations by including valuable domain knowledge from genome-wide association studies. To evaluate our approach, its effectiveness is compared against a held-out set where, again, it revealed very compelling results. For selected diseases, we further identify candidate gene lists for which disease-gene associations were not studied previously. Thus, our approach provides biomedical researchers with new tools to filter genes of interest, thus, reducing costly lab studies. PMID:27578529

Cardiovascular disease biomarkers across autoimmune diseases.

PubMed

Ahearn, Joseph; Shields, Kelly J; Liu, Chau-Ching; Manzi, Susan

2015-11-01

Cardiovascular disease is increasingly recognized as a major cause of premature mortality among those with autoimmune disorders. There is an urgent need to identify those patients with autoimmune disease who are at risk for CVD so as to optimize therapeutic intervention and ultimately prevention. Accurate identification, monitoring and stratification of such patients will depend upon a panel of biomarkers of cardiovascular disease. This review will discuss some of the most recent biomarkers of cardiovascular diseases in autoimmune disease, including lipid oxidation, imaging biomarkers to characterize coronary calcium, plaque, and intima media thickness, biomarkers of inflammation and activated complement, genetic markers, endothelial biomarkers, and antiphospholipid antibodies. Clinical implementation of these biomarkers will not only enhance patient care but also likely accelerate the pharmaceutical pipeline for targeted intervention to reduce or eliminate cardiovascular disease in the setting of autoimmunity. Copyright © 2015 Elsevier Inc. All rights reserved.

Prion Diseases as Transmissible Zoonotic Diseases

PubMed Central

Lee, Jeongmin; Kim, Su Yeon; Hwang, Kyu Jam; Ju, Young Ran; Woo, Hee-Jong

2013-01-01

Prion diseases, also called transmissible spongiform encephalopathies (TSEs), lead to neurological dysfunction in animals and are fatal. Infectious prion proteins are causative agents of many mammalian TSEs, including scrapie (in sheep), chronic wasting disease (in deer and elk), bovine spongiform encephalopathy (BSE; in cattle), and Creutzfeldt–Jakob disease (CJD; in humans). BSE, better known as mad cow disease, is among the many recently discovered zoonotic diseases. BSE cases were first reported in the United Kingdom in 1986. Variant CJD (vCJD) is a disease that was first detected in 1996, which affects humans and is linked to the BSE epidemic in cattle. vCJD is presumed to be caused by consumption of contaminated meat and other food products derived from affected cattle. The BSE epidemic peaked in 1992 and decreased thereafter; this decline is continuing sharply owing to intensive surveillance and screening programs in the Western world. However, there are still new outbreaks and/or progression of prion diseases, including atypical BSE, and iatrogenic CJD and vCJD via organ transplantation and blood transfusion. This paper summarizes studies on prions, particularly on prion molecular mechanisms, BSE, vCJD, and diagnostic procedures. Risk perception and communication policies of the European Union for the prevention of prion diseases are also addressed to provide recommendations for appropriate government policies in Korea. PMID:24159531

Link Between Celiac Disease and Inflammatory Bowel Disease.

PubMed

Shah, Ayesha; Walker, Marjorie; Burger, Daniel; Martin, Neal; von Wulffen, Moritz; Koloski, Natasha; Jones, Mike; Talley, Nicholas J; Holtmann, Gerald J

2018-05-14

The aim of this analysis was to assess in patients with inflammatory bowel disease (IBD) the risk of celiac disease and in celiac disease patients the risk of IBD. Previous studies report a possible association between IBD and celiac disease; however, this link is controversial. Using the search terms "inflammatory bowel disease" and "celiac disease," we identified initially 1525 publications. In total 27 studies met inclusion criteria. Proportions and 95% confidence intervals (CIs) for the prevalence of IBD in celiac disease and vice versa were compared with published prevalence rates for the respective geographic regions. We included 41,482 adult IBD patients (20,357 with Crohn's disease; 19,791 with ulcerative colitis; and 459 patients with celiac disease). Overall, in IBD patients the prevalence of celiac disease was 1110/100,000 (95% CI, 1010-1210/100,000) as compared with a prevalence of 620/100,000 (95% CI, 610-630/100,000) in the respective populations (odds ratio, 2.23; 95% CI, 1.99-2.50). In contrast, in patients with celiac disease, 2130/100,000 had IBD (95% CI, 1590-2670/100,000) as compared with 260/100,000 (95% CI, 250/100,000-270/100,000) in the respective populations (odds ratio, 11.10; 95% CI, 8.55-14.40). This effect was not different for ulcerative colitis and Crohn's disease. Although there was no evidence for publication bias for celiac disease in IBD, the funnel plot suggested that the association between IBD in celiac disease might be influenced by publication bias. The data are consistent with the notion that celiac disease is a risk factor for IBD and to lesser degree patients with IBD have an increased risk of celiac disease.

[Autoimmune thyroid disease and other non-endocrine autoimmune diseases].

PubMed

Dilas, Ljiljana Todorović; Icin, Tijana; Paro, Jovanka Novaković; Bajkin, Ivana

2011-01-01

Autoimmune diseases are chronic conditions initiated by the loss of immunological tolerance to self-antigens. They constitute heterogeneous group of disorders, in which multiple alterations in the immune system result in a spectrum of syndromes that either target specific organs or affect the body systematically. Recent epidemiological studies have shown a possible shift of one autoimmune disease to another or the fact that more than one autoimmune disease may coexist in a single patient or in the same family. Numerous autoimmune diseases have been shown to coexist frequently with thyroid autoimmune diseases. AUTOIMMNUNE THYROID DISEASE AND OTHER ORGAN SPECIFIC NON-ENDOCRINE AUTOIMMUNE DISEASES: This part of the study reviews the prevalence of autoimmune thyroid disease coexisting with: pernicious anaemia, vitiligo, celiac disease, autoimmune liver disease, miastenia gravis, alopecia areata and sclerosis multiplex, and several recommendations for screening have been given. AUTOIMMUNE THYROID DISEASE AND OTHER ORGAN NON-SPECIFIC NON-ENDOCRINE AUTOIMMUNE DISEASES: Special attention is given to the correlation between autoimmune thyroid disease and rheumatoid arthritis, systemic lupus erythematosus, syndrome Sjögren, systemic sclerosis and mixed connective tissue disease. Screening for autoimmune thyroid diseases should be recommended in everyday clinical practice, in patients with primary organ-specific or organ non-specific autoimmune disease. Otherwise, in patients with primary thyroid autoimmune disease, there is no good reason of seeking for all other autoimmune diseases, although these patients have a greater risk of developing other autoimmune disease. Economic aspects of medicine require further analyzing of these data, from cost/benefit point of view to justified either mandatory screening or medical practitioner judgment.

Future targeted disease modifying drugs for Alzheimer's disease.

PubMed

Dash, Sandip K

2011-01-01

Alzheimer's disease is the most common form of dementia. Alzheimer's disease will be responsible for an enormous burden on the individual and the society, as with the aging of the population, the incidence and the prevalence will grow. Presently, the drugs used in Alzheimer's disease are only effective symptomatically and improve functioning. They do not halt the progression of the disease. With the recent advances in our understanding of the pathogenesis of this disease, there have been tremendous advances in the clinical trials of compounds that can modify the disease process. Numerous therapeutic interventions and neuroprotective approaches are also in trial phase. It seems that in near future some of these compounds may be found effective and safe for use in this disease there by reducing the incidence of this disease in years to come, thereby lessen the burden due to it. In this article various compounds that can modify the course of the disease are discussed. Some recent patents and inventions for the treatment of Alzheimer's disease have also been discussed.

The Relationship Between Fatty Liver Disease and Periodontal Disease

DTIC Science & Technology

2017-03-22

Periodontitis is a highly prevalent and destructive chronic disease. Numerous studies support an association between periodontal disease and other...systemic diseases (diabetes, cardiovascular disease, chronic kidney disease, adverse pregnancy outcome, etc.). Non-alcoholic fatty liver disease is a... chronic inflammatory disease that is characterized by accumulation of triglycerides and fat in the liver which may lead to fibrosis and even cirrhosis

Heart Disease

MedlinePlus

... receive Heart Disease and Stroke email updates Submit Heart disease Heart disease is the number one killer of ... about heart disease on other websites View more Heart disease resources Related information Heart-healthy eating Diabetes Stress ...

A pathway-based view of human diseases and disease relationships.

PubMed

Li, Yong; Agarwal, Pankaj

2009-01-01

It is increasingly evident that human diseases are not isolated from each other. Understanding how different diseases are related to each other based on the underlying biology could provide new insights into disease etiology, classification, and shared biological mechanisms. We have taken a computational approach to studying disease relationships through 1) systematic identification of disease associated genes by literature mining, 2) associating diseases to biological pathways where disease genes are enriched, and 3) linking diseases together based on shared pathways. We identified 4,195 candidate disease associated genes for 1028 diseases. On average, about 50% of disease associated genes of a disease are statistically mapped to pathways. We generated a disease network which consists of 591 diseases and 6,931 disease relationships. We examined properties of this network and provided examples of novel disease relationships which cannot be readily captured through simple literature search or gene overlap analysis. Our results could potentially provide insights into the design of novel, pathway-guided therapeutic interventions for diseases.

Parkinson's Disease

MedlinePlus

... Staying Safe Videos for Educators Search English Español Parkinson's Disease KidsHealth / For Kids / Parkinson's Disease What's in this ... symptoms of something called Parkinson's disease. What Is Parkinson's Disease? Parkinson's disease is a disorder of the central ...

[Medical therapy of inflammatory bowel diseases: Crohn's disease].

PubMed

Lakatos, László; Lakatos, Péter László

2007-06-17

The therapy of inflammatory bowel diseases is based on 5-aminosalicylates (5-ASAs) that are the forefront of treatment of mild-to-moderate active disease and maintenance; steroids are used for the treatment of moderate-to-severe active disease; immunosuppressives and sometimes antibiotics in moderate-to-severe disease; maintenance and for the treatment of selected complications. The last few years have witnessed a significant change in the treatment of Crohn's disease. Based on evidence from new clinical studies and recent meta-analyses, the role of and indications for conventional therapy have been reassessed. The 5-ASAs are nowadays less frequently used in both active disease and maintenance therapy. Instead, budesonide has been introduced in the treatment of mild-to-moderate ileal disease. Besides the modest use of 5-ASAs, steroids are prescribed for active colonic disease. Immunosuppressives, especially azathioprine, are more commonly used in moderate-to-severe disease as well as in maintenance. The preferred maintenance regimen following medically- and surgically-induced remission, in addition to relationship between medical and surgical therapies, has also changed. The recent introduction of new "biological" therapy represents a major, promising change in the therapy of resistant and penetrating disease.

Gaucher Disease

MedlinePlus

... of the disease, but the procedure carries a high risk and is rarely performed in individuals with Gaucher disease. People with Gaucher disease type 1 are at increased risk for Parkinson's disease and Lewy Body Dementia. Gaucher disease type 2 is usually fatal ...

NIH disease funding levels and burden of disease.

PubMed

Gillum, Leslie A; Gouveia, Christopher; Dorsey, E Ray; Pletcher, Mark; Mathers, Colin D; McCulloch, Charles E; Johnston, S Claiborne

2011-02-24

An analysis of NIH funding in 1996 found that the strongest predictor of funding, disability-adjusted life-years (DALYs), explained only 39% of the variance in funding. In 1998, Congress requested that the Institute of Medicine (IOM) evaluate priority-setting criteria for NIH funding; the IOM recommended greater consideration of disease burden. We examined whether the association between current burden and funding has changed since that time. We analyzed public data on 2006 NIH funding for 29 common conditions. Measures of US disease burden in 2004 were obtained from the World Health Organization's Global Burden of Disease study and national databases. We assessed the relationship between disease burden and NIH funding dollars in univariate and multivariable log-linear models that evaluated all measures of disease burden. Sensitivity analyses examined associations with future US burden, current and future measures of world disease burden, and a newly standardized NIH accounting method. In univariate and multivariable analyses, disease-specific NIH funding levels increased with burden of disease measured in DALYs (p = 0.001), which accounted for 33% of funding level variation. No other factor predicted funding in multivariable models. Conditions receiving the most funding greater than expected based on disease burden were AIDS ($2474 M), diabetes mellitus ($390 M), and perinatal conditions ($297 M). Depression ($719 M), injuries ($691 M), and chronic obstructive pulmonary disease ($613 M) were the most underfunded. Results were similar using estimates of future US burden, current and future world disease burden, and alternate NIH accounting methods. Current levels of NIH disease-specific research funding correlate modestly with US disease burden, and correlation has not improved in the last decade.

SpliceDisease database: linking RNA splicing and disease.

PubMed

Wang, Juan; Zhang, Jie; Li, Kaibo; Zhao, Wei; Cui, Qinghua

2012-01-01

RNA splicing is an important aspect of gene regulation in many organisms. Splicing of RNA is regulated by complicated mechanisms involving numerous RNA-binding proteins and the intricate network of interactions among them. Mutations in cis-acting splicing elements or its regulatory proteins have been shown to be involved in human diseases. Defects in pre-mRNA splicing process have emerged as a common disease-causing mechanism. Therefore, a database integrating RNA splicing and disease associations would be helpful for understanding not only the RNA splicing but also its contribution to disease. In SpliceDisease database, we manually curated 2337 splicing mutation disease entries involving 303 genes and 370 diseases, which have been supported experimentally in 898 publications. The SpliceDisease database provides information including the change of the nucleotide in the sequence, the location of the mutation on the gene, the reference Pubmed ID and detailed description for the relationship among gene mutations, splicing defects and diseases. We standardized the names of the diseases and genes and provided links for these genes to NCBI and UCSC genome browser for further annotation and genomic sequences. For the location of the mutation, we give direct links of the entry to the respective position/region in the genome browser. The users can freely browse, search and download the data in SpliceDisease at http://cmbi.bjmu.edu.cn/sdisease.

Disease staging as a measure of disease severity.

PubMed

Kohyama, Jun; Fujitani, Shigeki; Umesato, Yoshimasa; Kataoka, Hitomi

2015-06-24

Disease staging, first developed in 1970, has been used to assess the levels of biological severity, defined as the risk of organ failure or death, of specific medical diseases. Because few studies to date have evaluated disease staging in Japan, a small pilot study was designed to determine whether disease staging is available and useful in actual medical practice in Japan. The relationships between disease staging and length of stay, medical costs and age were retrospectively evaluated in patients admitted to Japan Association for Development of Community Medicine - Tokyo Bay Urayasu Ichikawa Medical Center for appendicitis, type 2 diabetes mellitus, and cerebrovascular diseases from April 2012 to March 2013. Patients were easily staged based on information at the time of hospital discharge. Disease stages were found to be affected significantly by length of hospital stay and medical costs. Age also affected disease stages in patients with appendicitis. These findings indicate that disease staging was available in Japan and was affected by hospital resources, including length of hospital stay and medical costs.

Women's Heart Disease: Heart Disease Risk Factors

MedlinePlus

... this page please turn JavaScript on. Feature: Women's Heart Disease Heart Disease Risk Factors Past Issues / Winter 2014 Table ... or habits may raise your risk for coronary heart disease (CHD). These conditions are known as risk ...

Mining disease state converters for medical intervention of diseases.

PubMed

Dong, Guozhu; Duan, Lei; Tang, Changjie

2010-02-01

In applications such as gene therapy and drug design, a key goal is to convert the disease state of diseased objects from an undesirable state into a desirable one. Such conversions may be achieved by changing the values of some attributes of the objects. For example, in gene therapy one may convert cancerous cells to normal ones by changing some genes' expression level from low to high or from high to low. In this paper, we define the disease state conversion problem as the discovery of disease state converters; a disease state converter is a small set of attribute value changes that may change an object's disease state from undesirable into desirable. We consider two variants of this problem: personalized disease state converter mining mines disease state converters for a given individual patient with a given disease, and universal disease state converter mining mines disease state converters for all samples with a given disease. We propose a DSCMiner algorithm to discover small and highly effective disease state converters. Since real-life medical experiments on living diseased instances are expensive and time consuming, we use classifiers trained from the datasets of given diseases to evaluate the quality of discovered converter sets. The effectiveness of a disease state converter is measured by the percentage of objects that are successfully converted from undesirable state into desirable state as deemed by state-of-the-art classifiers. We use experiments to evaluate the effectiveness of our algorithm and to show its effectiveness. We also discuss possible research directions for extensions and improvements. We note that the disease state conversion problem also has applications in customer retention, criminal rehabilitation, and company turn-around, where the goal is to convert class membership of objects whose class is an undesirable class.

MicroRNAs in Human Diseases: From Autoimmune Diseases to Skin, Psychiatric and Neurodegenerative Diseases

PubMed Central

2011-01-01

MicroRNAs (miRNAs) are small noncoding RNA molecules that negatively regulate gene expression via degradation or translational repression of their target messenger RNAs (mRNAs). Recent studies have clearly demonstrated that miRNAs play critical roles in several biologic processes, including cell cycle, differentiation, cell development, cell growth, and apoptosis and that miRNAs are highly expressed in regulatory T (Treg) cells and a wide range of miRNAs are involved in the regulation of immunity and in the prevention of autoimmunity. It has been increasingly reported that miRNAs are associated with various human diseases like autoimmune disease, skin disease, neurological disease and psychiatric disease. Recently, the identification of mi- RNAs in skin has added a new dimension in the regulatory network and attracted significant interest in this novel layer of gene regulation. Although miRNA research in the field of dermatology is still relatively new, miRNAs have been the subject of much dermatological interest in skin morphogenesis and in regulating angiogenesis. In addition, miRNAs are moving rapidly onto center stage as key regulators of neuronal development and function in addition to important contributions to neurodegenerative disorder. Moreover, there is now compelling evidence that dysregulation of miRNA networks is implicated in the development and onset of human neruodegenerative diseases, such as Alzheimer's disease, Parkinson's disease, Huntington's disease, Tourette's syndrome, Down syndrome, depression and schizophrenia. In this review, I briefly summarize the current studies about the roles of miRNAs in various autoimmune diseases, skin diseases, psychoneurological disorders and mental stress. PMID:22194706

Periodontal disease.

PubMed

Niemiec, Brook A

2008-05-01

Periodontal disease is the most commonly diagnosed problem in small animal veterinary medicine. In the vast majority of cases, however, there are little to no outward clinical signs of the disease process, and, therefore, therapy often comes very late in the disease course. Consequently, periodontal disease is also the most undertreated animal health problem. In addition, unchecked periodontal disease has numerous dire consequences both locally and systemically. These consequences are detailed in the article and should be utilized to educate clients and encourage compliance of therapeutic recommendations. The local consequences include oronasal fistulas, class II perio-endo lesions, pathologic fractures, ocular problems, osteomyelitis, and an increased incidence of oral cancer. Systemic diseases linked to periodontal disease include: renal, hepatic, pulmonary, and cardiac diseases; osteoporosis, adverse pregnancy effects, and diabetes mellitus. Before the discussion of consequences, this article covers the pathogenesis of periodontal disease, followed by clinical features and diagnostic tests.

Cardiovascular Disease Risk in Children With Kidney Disease.

PubMed

Sethna, Christine B; Merchant, Kumail; Reyes, Abigail

2018-05-01

Cardiovascular disease is a major cause of death in individuals diagnosed with kidney disease during childhood. Children with kidney disease often incur a significant cardiovascular burden that leads to increased risk for cardiovascular disease. Evidence has shown that children with kidney disease, including chronic kidney disease, dialysis, kidney transplantation, and nephrotic syndrome, develop abnormalities in cardiovascular markers such as hypertension, dyslipidemia, left ventricular hypertrophy, left ventricular dysfunction, atherosclerosis, and aortic stiffness. Early identification of modifiable risk factors and treatment may lead to a decrease of long-term cardiovascular morbidity and mortality, but evidence in this population is lacking. Copyright © 2018 Elsevier Inc. All rights reserved.

Nonalcoholic fatty liver disease - A multisystem disease?

PubMed Central

Mikolasevic, Ivana; Milic, Sandra; Turk Wensveen, Tamara; Grgic, Ivana; Jakopcic, Ivan; Stimac, Davor; Wensveen, Felix; Orlic, Lidija

2016-01-01

Non-alcoholic fatty liver disease (NAFLD) is one of the most common comorbidities associated with overweight and metabolic syndrome (MetS). Importantly, NAFLD is one of its most dangerous complications because it can lead to severe liver pathologies, including fibrosis, cirrhosis and hepatic cellular carcinoma. Given the increasing worldwide prevalence of obesity, NAFLD has become the most common cause of chronic liver disease and therefore is a major global health problem. Currently, NAFLD is predominantly regarded as a hepatic manifestation of MetS. However, accumulating evidence indicates that the effects of NAFLD extend beyond the liver and are negatively associated with a range of chronic diseases, most notably cardiovascular disease (CVD), diabetes mellitus type 2 (T2DM) and chronic kidney disease (CKD). It is becoming increasingly clear that these diseases are the result of the same underlying pathophysiological processes associated with MetS, such as insulin resistance, chronic systemic inflammation and dyslipidemia. As a result, they have been shown to be independent reciprocal risk factors. In addition, recent data have shown that NAFLD actively contributes to aggravation of the pathophysiology of CVD, T2DM, and CKD, as well as several other pathologies. Thus, NAFLD is a direct cause of many chronic diseases associated with MetS, and better detection and treatment of fatty liver disease is therefore urgently needed. As non-invasive screening methods for liver disease become increasingly available, detection and treatment of NAFLD in patients with MetS should therefore be considered by both (sub-) specialists and primary care physicians. PMID:27920470

Perianal disease, small bowel disease, smoking, prior steroid or early azathioprine/biological therapy are predictors of disease behavior change in patients with Crohn's disease.

PubMed

Lakatos, Peter Laszlo; Czegledi, Zsofia; Szamosi, Tamas; Banai, Janos; David, Gyula; Zsigmond, Ferenc; Pandur, Tunde; Erdelyi, Zsuzsanna; Gemela, Orsolya; Papp, Janos; Lakatos, Laszlo

2009-07-28

To assess the combined effect of disease phenotype, smoking and medical therapy [steroid, azathioprine (AZA), AZA/biological therapy] on the probability of disease behavior change in a Caucasian cohort of patients with Crohn's disease (CD). Three hundred and forty well-characterized, unrelated, consecutive CD patients were analyzed (M/F: 155/185, duration: 9.4 +/- 7.5 years) with a complete clinical follow-up. Medical records including disease phenotype according to the Montreal classification, extraintestinal manifestations, use of medications and surgical events were analyzed retrospectively. Patients were interviewed on their smoking habits at the time of diagnosis and during the regular follow-up visits. A change in disease behavior was observed in 30.8% of patients with an initially non-stricturing, non-penetrating disease behavior after a mean disease duration of 9.0 +/- 7.2 years. In a logistic regression analysis corrected for disease duration, perianal disease, smoking, steroid use, early AZA or AZA/biological therapy use were independent predictors of disease behavior change. In a subsequent Kaplan-Meier survival analysis and a proportional Cox regression analysis, disease location (P = 0.001), presence of perianal disease (P < 0.001), prior steroid use (P = 0.006), early AZA (P = 0.005) or AZA/biological therapy (P = 0.002), or smoking (P = 0.032) were independent predictors of disease behavior change. Our data suggest that perianal disease, small bowel disease, smoking, prior steroid use, early AZA or AZA/biological therapy are all predictors of disease behavior change in CD patients.

Chronic Inflammatory Disease, Lifestyle and Risk of Disease

ClinicalTrials.gov

2018-04-06

Autoimmune Diseases; Inflammatory Bowel Diseases; Crohn Disease (CD); Ulcerative Colitis (UC); Arthritis, Rheumatoid (RA); Spondylarthropathies; Arthritis, Psoriatic (PsA); Psoriasis (PsO); Multiple Sclerosis (MS)

The Disease Portals, disease-gene annotation and the RGD disease ontology at the Rat Genome Database.

PubMed

Hayman, G Thomas; Laulederkind, Stanley J F; Smith, Jennifer R; Wang, Shur-Jen; Petri, Victoria; Nigam, Rajni; Tutaj, Marek; De Pons, Jeff; Dwinell, Melinda R; Shimoyama, Mary

2016-01-01

The Rat Genome Database (RGD;http://rgd.mcw.edu/) provides critical datasets and software tools to a diverse community of rat and non-rat researchers worldwide. To meet the needs of the many users whose research is disease oriented, RGD has created a series of Disease Portals and has prioritized its curation efforts on the datasets important to understanding the mechanisms of various diseases. Gene-disease relationships for three species, rat, human and mouse, are annotated to capture biomarkers, genetic associations, molecular mechanisms and therapeutic targets. To generate gene-disease annotations more effectively and in greater detail, RGD initially adopted the MEDIC disease vocabulary from the Comparative Toxicogenomics Database and adapted it for use by expanding this framework with the addition of over 1000 terms to create the RGD Disease Ontology (RDO). The RDO provides the foundation for, at present, 10 comprehensive disease area-related dataset and analysis platforms at RGD, the Disease Portals. Two major disease areas are the focus of data acquisition and curation efforts each year, leading to the release of the related Disease Portals. Collaborative efforts to realize a more robust disease ontology are underway. Database URL:http://rgd.mcw.edu. © The Author(s) 2016. Published by Oxford University Press.

Celiac disease and new diseases related to gluten

PubMed

Jiménez Ortega, Ana Isabel; Martínez García, Rosa María; Quiles Blanco, María José; Majid Abu Naji, Jamil Abdel; González Iglesias, María José

2016-07-12

Celiac disease is the most common chronic intestinal disease. Nowadays it´s known that this is a multisistemic pathology of immune mechanism, triggered by gluten, which occurs in genetically susceptible individuals. It affects approximately 1% of the world population, which is a very high prevalence, affects all age groups and has symptoms both digestive and extra-digestive. Since it is a disease that requires maintaining a gluten-free diet and medical monitoring for life, it is important to know it and establish its diagnosis properly. Along with celiac disease a number of new diseases related to gluten are diagnosed increasingly, including the non celiac gluten sensitivity or wheat allergy. The suffering of celiac disease, or other related diseases, by conditioning diet changes of the affected individual, it may be associated with nutritional imbalances that need to monitor and try to solve. Therefore patients with this problem need special nutritional advice.

Heart Disease

MedlinePlus

... vary by type of heart disease. Causes of cardiovascular disease While cardiovascular disease can refer to different heart or blood vessel ... Atherosclerosis is also the most common cause of cardiovascular disease. It can be caused by correctable problems, such ...

Dermatological diseases in patients with chronic kidney disease.

PubMed

Gagnon1, Amy L; Desai, Tejas

2013-04-01

There are a variety of dermatological diseases that are more commonly seen in patients with chronic kidney disease (CKD) and renal transplants than the general population. Directory of Open Access Journals (DOAJ), Google Scholar, Pubmed (NLM), LISTA (EBSCO) and Web of Science has been searched. Some cutaneous diseases are clearly unique to this population. Of them, Lindsay's Nails, xerosis cutis, dryness of the skin, nephrogenic systemic fibrosis and acquired perforating dermatosis have been described in chronic kidney disease patients. The most common malignancy found in all transplant recipients is non-melanoma skin cancer. It is important for patients and physicians to recognize the manifestations of skin disease in patients suffering from chronic kidney disease to mitigate the morbidity associated with these conditions.

Fabry Disease

MedlinePlus

... Page You are here Home » Disorders » All Disorders Fabry Disease Information Page Fabry Disease Information Page What research is being done? The ... treat and prevent lipid storage diseases such as Fabry disease. Researchers hope to identify biomarkers--signs that may ...

Heart Diseases

MedlinePlus

... you're like most people, you think that heart disease is a problem for others. But heart disease is the number one killer in the ... of disability. There are many different forms of heart disease. The most common cause of heart disease ...

Gastroesophageal Reflux Disease in Children with Interstitial Lung Disease.

PubMed

Dziekiewicz, M A; Karolewska-Bochenek, K; Dembiński, Ł; Gawronska, A; Krenke, K; Lange, J; Banasiuk, M; Kuchar, E; Kulus, M; Albrecht, P; Banaszkiewicz, A

2016-01-01

Gastroesophageal reflux disease is common in adult patients with interstitial lung disease. However, no data currently exist regarding the prevalence and characteristics of the disease in pediatric patients with interstitial lung disease. The aim of the present study was to prospectively assess the incidence of gastroesophageal reflux disease and characterize its features in children with interstitial lung disease. Gastroesophageal reflux disease was established based on 24 h pH-impedance monitoring (MII-pH). Gastroesophageal reflux episodes (GERs) were classified according to widely recognized criteria as acid, weakly acid, weakly alkaline, or proximal. Eighteen consecutive patients (15 boys, aged 0.2-11.6 years) were enrolled in the study. Gastroesophageal reflux disease was diagnosed in a half (9/18) of children. A thousand GERs were detected by MII-pH (median 53.5; IQR 39.0-75.5). Of these, 585 (58.5 %) episodes were acidic, 407 (40.7 %) were weakly acidic, and eight (0.8 %) were weakly alkaline. There were 637 (63.7 %) proximal GERs. The patients in whom gastroesophageal reflux disease was diagnosed had a significantly higher number of proximal and total GERs. We conclude that the prevalence of gastroesophageal reflux disease in children with interstitial lung disease is high; thus, the disease should be considered regardless of presenting clinical symptoms. A high frequency of non-acid and proximal GERs makes the MII-pH method a preferable choice for the detection of reflux episodes in this patient population.

A conceptual disease model for adult Pompe disease.

PubMed

Kanters, Tim A; Redekop, W Ken; Rutten-Van Mölken, Maureen P M H; Kruijshaar, Michelle E; Güngör, Deniz; van der Ploeg, Ans T; Hakkaart, Leona

2015-09-15

Studies in orphan diseases are, by nature, confronted with small patient populations, meaning that randomized controlled trials will have limited statistical power. In order to estimate the effectiveness of treatments in orphan diseases and extrapolate effects into the future, alternative models might be needed. The purpose of this study is to develop a conceptual disease model for Pompe disease in adults (an orphan disease). This conceptual model describes the associations between the most important levels of health concepts for Pompe disease in adults, from biological parameters via physiological parameters, symptoms and functional indicators to health perceptions and final health outcomes as measured in terms of health-related quality of life. The structure of the Wilson-Cleary health outcomes model was used as a blueprint, and filled with clinically relevant aspects for Pompe disease based on literature and expert opinion. Multiple observations per patient from a Dutch cohort study in untreated patients were used to quantify the relationships between the different levels of health concepts in the model by means of regression analyses. Enzyme activity, muscle strength, respiratory function, fatigue, level of handicap, general health perceptions, mental and physical component scales and utility described the different levels of health concepts in the Wilson-Cleary model for Pompe disease. Regression analyses showed that functional status was affected by fatigue, muscle strength and respiratory function. Health perceptions were affected by handicap. In turn, self-reported quality of life was affected by health perceptions. We conceptualized a disease model that incorporated the mechanisms believed to be responsible for impaired quality of life in Pompe disease. The model provides a comprehensive overview of various aspects of Pompe disease in adults, which can be useful for both clinicians and policymakers to support their multi-faceted decision making.

Dermatological diseases in patients with chronic kidney disease

PubMed Central

Gagnon1, Amy L.; Desai, Tejas

2013-01-01

Context: There are a variety of dermatological diseases that are more commonly seen in patients with chronic kidney disease (CKD) and renal transplants than the general population. Evidence Acquisitions: Directory of Open Access Journals (DOAJ), Google Scholar, Pubmed (NLM), LISTA (EBSCO) and Web of Science has been searched. Results: Some cutaneous diseases are clearly unique to this population. Of them, Lindsay’s Nails, xerosis cutis, dryness of the skin, nephrogenic systemic fibrosis and acquired perforating dermatosis have been described in chronic kidney disease patients. The most common malignancy found in all transplant recipients is non-melanoma skin cancer. Conclusions: It is important for patients and physicians to recognize the manifestations of skin disease in patients suffering from chronic kidney disease to mitigate the morbidity associated with these conditions. PMID:24475435

Colonic Crohn's Disease Is Associated with Less Aggressive Disease Course Than Ileal or Ileocolonic Disease.

PubMed

Arora, Umang; Kedia, Saurabh; Garg, Prerna; Bopanna, Sawan; Jain, Saransh; Yadav, Dawesh P; Goyal, Sandeep; Gupta, Vipin; Sahni, Peush; Pal, Sujoy; Dash, Nihar Ranjan; Madhusudhan, Kumble Seetharama; Sharma, Raju; Makharia, Govind; Ahuja, Vineet

2018-06-01

The literature on disease characteristics of colonic Crohn's disease (CD) is sparse, especially from Asia, where the burden of inflammatory bowel disease is on the rise. The present study aims to describe the disease characteristics of colonic CD, and compare it with that of ileal/ileocolonic disease. This retrospective study included adult patients of CD (diagnosed by standard criteria, follow-up duration > 6 months) on follow-up between August 2004 and January 2016. The disease location was classified by Montreal classification. The data were recorded on demographic characteristics, smoking status, disease phenotype, disease course, treatment received, hospitalization and surgeries. Of 406 CD patients, 123 had colonic [mean age (at onset) 30.4 ± 13.2 years, 59.3% males] and 265 had ileal/ileocolonic disease [mean age (at onset) 32.9 ± 13.8 years, 61.5% males] while 18 patients had isolated upper GI disease. The frequency of inflammatory behavior (B1 phenotype; 61.8 vs. 46.4%, p = 0.003), perianal disease (23.6 vs. 4.5%, p < 0.001), and extra-intestinal manifestation (42.3 vs. 30.2%, p = 0.019) was higher in colonic than ileal/ileocolonic CD. Though not statistically significant, requirement of atleast one course of steroid was lower in colonic CD (72.7 vs. 84.2%, p = 0.098). Although there was no difference in the frequency of hospitalization (30.1 vs. 27.1%, p = 0.45), the overall requirement for surgery was significantly lower in colonic CD (17.1 vs. 26.1%, p = 0.032) and patients with colonic disease had a lower cumulative probability of first surgery in the first 10 years of follow-up [Hazard ratio 0.556 (95% CI 0.313-0.985), p = 0.045]. Colonic CD was associated with less aggressive disease behavior and lower requirement of surgery as compared to ileal/ileocolonic CD.

Hyaline-Vascular Type Castleman's Disease, Sarcoidosis, and Crohns Disease.

PubMed

Gupta, Arjun; Ayyar, Balaji; Zia, Hamid; Chen, Weina; Harris, Samar; Naina, Harris V

2016-06-01

Sarcoidosis and Crohns disease have been associated with increased long term risk of lymphoproliferative disorders, including lymphomas. Newly developed lymphadenopathy in a patient with these disorders should prompt pathological evaluation. Castleman's disease is a lymphoproliferative disorder characterized by enlarged hyperplastic lymph nodes with regressed follicles surrounded by expanded mantle zones of small lymphocytes, and interfollicular vascular proliferation in the hyaline-vascular type. Similar to sarcoidosis and Crohns disease, its etiology is incompletely understood, although immune dysregulation, genetic factors and infectious and environmental factors are thought to play a role in all three diseases. Interleukin-6 is a possible pathological common factor between these three disease processed. Unicentric, hyaline-vascular type Castleman's disease can be treated successfully with complete surgical resection. We report a patient with long history of sarcoidosis and Crohns disease with newly developed lymphadenopathy which was found to be due to Castleman's disease.

Perianal disease, small bowel disease, smoking, prior steroid or early azathioprine/biological therapy are predictors of disease behavior change in patients with Crohn’s disease

PubMed Central

Lakatos, Peter Laszlo; Czegledi, Zsofia; Szamosi, Tamas; Banai, Janos; David, Gyula; Zsigmond, Ferenc; Pandur, Tunde; Erdelyi, Zsuzsanna; Gemela, Orsolya; Papp, Janos; Lakatos, Laszlo

2009-01-01

AIM: To assess the combined effect of disease phenotype, smoking and medical therapy [steroid, azathioprine (AZA), AZA/biological therapy] on the probability of disease behavior change in a Caucasian cohort of patients with Crohn’s disease (CD). METHODS: Three hundred and forty well-characterized, unrelated, consecutive CD patients were analyzed (M/F: 155/185, duration: 9.4 ± 7.5 years) with a complete clinical follow-up. Medical records including disease phenotype according to the Montreal classification, extraintestinal manifestations, use of medications and surgical events were analyzed retrospectively. Patients were interviewed on their smoking habits at the time of diagnosis and during the regular follow-up visits. RESULTS: A change in disease behavior was observed in 30.8% of patients with an initially non-stricturing, non-penetrating disease behavior after a mean disease duration of 9.0 ± 7.2 years. In a logistic regression analysis corrected for disease duration, perianal disease, smoking, steroid use, early AZA or AZA/biological therapy use were independent predictors of disease behavior change. In a subsequent Kaplan-Meier survival analysis and a proportional Cox regression analysis, disease location (P = 0.001), presence of perianal disease (P < 0.001), prior steroid use (P = 0.006), early AZA (P = 0.005) or AZA/biological therapy (P = 0.002), or smoking (P = 0.032) were independent predictors of disease behavior change. CONCLUSION: Our data suggest that perianal disease, small bowel disease, smoking, prior steroid use, early AZA or AZA/biological therapy are all predictors of disease behavior change in CD patients. PMID:19630105

[Coexistence of coeliac disease and inflammatory bowel disease in children].

PubMed

Krawiec, Paulina; Pawłowska-Kamieniak, Agnieszka; Pac-Kożuchowska, Elżbieta; Mroczkowska-Juchkiewcz, Agnieszka; Kominek, Katarzyna

2016-01-01

Coeliac disease and inflammatory bowel disease are chronic inflammatory conditions of gastrointestinal tract with complex aetiology with genetic, environmental and immunological factors contributing to its pathogenesis. It was noted that immune-mediated disorders often coexist. There is well-known association between coeliac disease and type 1 diabetes and ulcerative colitis and primary sclerosing cholangitis. However, growing body of literature suggests the association between coeliac disease and inflammatory bowel disease, particularly ulcerative colitis. This is an extremely rare problem in paediatric gastroenterology. To date there have been reported several cases of children with coexisting coeliac disease and inflammatory bowel disease. Herewith we present review of current literature on coexistence of coeliac disease and inflammatory bowel disease in children. © 2016 MEDPRESS.

[Valvular heart disease associated with coronary artery disease].

PubMed

Yildirir, Aylin

2009-07-01

Nowadays, age-related degenerative etiologies have largely replaced the rheumatic ones and as a natural result of this etiologic change, coronary artery disease has become associated with valvular heart disease to a greater extent. Degenerative aortic valve disease has an important pathophysiological similarity to atherosclerosis and is the leader in this association. There is a general consensus that severely stenotic aortic valve should be replaced during bypass surgery for severe coronary artery disease. For moderate degree aortic stenosis, aortic valve replacement is usually performed during coronary bypass surgery. Ischemic mitral regurgitation has recently received great attention from both diagnostic and therapeutic points of view. Ischemic mitral regurgitation significantly alters the prognosis of the patient with coronary artery disease. Severe ischemic mitral regurgitation should be corrected during coronary bypass surgery and mitral valve repair should be preferred to valve replacement. For moderate degree ischemic mitral regurgitation, many authors prefer valve surgery with coronary bypass surgery. In this review, the main characteristics of patients with coronary artery disease accompanying valvular heart disease and the therapeutic options based on individual valve pathology are discussed.

Disease phobia and disease conviction are separate dimensions underlying hypochondriasis.

PubMed

Fergus, Thomas A; Valentiner, David P

2010-12-01

The current study uses data from a large nonclinical college student sample (N = 503) to examine a structural model of hypochondriasis (HC). This model predicts the distinctiveness of two dimensions (disease phobia and disease conviction) purported to underlie the disorder, and that these two dimensions are differentially related to variables important to health anxiety and somatoform disorders, respectively. Results were generally consistent with the hypothesized model. Specifically, (a) body perception variables (somatosensory amplification and anxiety sensitivity - physical) emerged as significant predictors of disease phobia, but not disease conviction; (b) emotion dysregulation variables (cognitive avoidance and cognitive reappraisal) emerged as significant predictors of disease conviction, but not disease phobia; and (c) both disease phobia and disease conviction independently predicted medical utilization. Further, collapsing disease phobia and disease conviction onto a single latent factor provided an inadequate fit to the data. Conceptual and therapeutic implications of these results are discussed. 2010 Elsevier Ltd. All rights reserved.

Lyme Disease

PubMed Central

Murray, Thomas S.; Shapiro, Eugene D.

2013-01-01

Synopsis Lyme disease, caused by spirochete Borrelia burgdorferi, is the most common vector-borne disease in the United States. The clinical presentation varies depending on the stage of the illness: early disease includes erthyma migrans, early disseminated disease includes multiple erythema migrans, meningitis, cranial nerve palsies and carditis; late disease is primarily arthritis. The symptoms and signs of infection resolve in the vast majority of patients after appropriate treatment with antimicrobials for from 2-4 weeks. Serologic testing should be used judiciously as it often results in misdiagnosis when performed on blood from patients with a low prior probability of disease and those with non-specific symptoms such as fatigue or arthralgia without signs of infection. PMID:20513553

Mondor's disease of penis: a forgotten disease.

PubMed

Kumar, B; Narang, T; Radotra, B D; Gupta, S

2005-12-01

Mondor's disease of penis is an uncommon genital condition involving the penile sulcus in a circumferential manner. Although this disorder is almost always self limited, it is associated with considerable psychological stress and sexual disharmony. All patients attending the sexually transmitted disease clinic during 1991-2003 were examined for evidence of Mondor's disease of penis. Detailed history and clinical findings were recorded in a specially designed proforma. Histopathological examination and staining with CD31 and CD34 monoclonal antibodies was also done in 11 patients. 18 out of 1296 patients attending the sexually transmitted diseases (STD) clinic during the study period were found to have penile Mondor's disease, giving an incidence of 1.39%. 17 patients had history of one or more episodes of STDs. Histopathological specimens showed prominent vessels with plump endothelial cells and thickened blood vessel walls. The occasional vessel showed complete occlusion of its lumen. In our study we did not find any evidence of lymphatic involvement. Non-lymphatic vessels, mainly veins, were predominantly involved. In our opinion Mondor's phlebitis of penis or Mondor's disease of penis are better terms to describe the condition rather than non-venereal sclerosing lymphangitis.

Meningococcal Disease

MedlinePlus

... and Control of Meningococcal Disease Resources Beyond the Science: Putting a Face on Meningococcal Disease National Meningitis Association Facts about Meningococcal Disease for Adults adultvaccination.org Meningococcal ...

Coats' disease, Turner syndrome, and von Willebrand disease in a patient with Wildtype Norrie disease pseudoglioma.

PubMed

Desai, Rajen U; Saffra, Norman A; Krishna, Rati P; Rosenberg, Steven E

2011-01-01

The authors describe a girl diagnosed as having Coats' disease, Turner syndrome (45X karyotype), and type 1 von Willebrand disease. She tested negative for the Norrie disease pseudoglioma (NDP) gene located on the X-chromosome, which has been suspected of contributing to Coats' disease. Copyright 2010, SLACK Incorporated.

The "fourth disease" of childhood: reevaluation of a nonexistent disease.

PubMed

Morens, D M; Katz, A R

1991-09-15

Observed and described between 1884 and 1900, "fourth disease" (Dukes disease) followed measles, scarlet fever, and rubella as the fourth clinically characterized childhood exanthem. Like rubella ("third disease") and erythema infectiosum ("fifth disease"), accepted by the medical community at about the same time, the existence of fourth disease was initially controversial. Over the following decades descriptions of hundreds of cases, outbreaks, and laboratory studies were published in the indexed medical literature. Unlike rubella and fifth disease, however, fourth disease was not subsequently proven to exist by either epidemiologic criteria or isolation of an etiologic agent. By the 1930s, it was infrequently recognized and by the 1960s had been dropped from textbooks. In this study, the authors use epidemiologic methods to reevaluate published data on English schoolchildren from 1892 to 1900 upon which the original fourth disease claim of Dukes was based. The authors conclude that fourth disease never existed. Reinterpretation of the original data suggests that cases can be completely explained as misdiagnosed rubella and scarlet fever. Misidentification of fourth disease is attributed to failures in the critical abilities of the medical and scientific communities at the time. The implications of erroneously identifying a nonexistent disease suggest that modern scientific approaches to disease identification are sound.

Periodontal Disease and Systemic Diseases: An Update for the Clinician.

PubMed

John, Vanchit; Alqallaf, Hawra; De Bedout, Tatiana

2016-01-01

A link between periodontal disease and various systemic diseases has been investigated for several years. Interest in unearthing such a link has grown as the health care profession is looking for a better understanding of disease processes and their relationships to periodontal and other oral diseases. The article aims to provide recent information on the relationship between periodontal disease and systemic diseases such as; cardiovascular, respiratory, endocrine, musculoskeletal, and reproductive system related abnormalities.

Addison's disease.

PubMed

Sarkar, Soumya Brata; Sarkar, Subrata; Ghosh, Supratim; Bandyopadhyay, Subhankar

2012-10-01

Addison's disease is a rare endocrinal disorder, with several oral and systemic manifestations. A variety of pathological processes may cause Addison's disease. Classically, hyperpigmentation is associated with the disease, and intraoral pigmentation is perceived as the initial sign and develops earlier than the dermatological pigmentation. The symptoms of the disease usually progress slowly and an event of illness or accident can make the condition worse and may lead to a life-threatening crisis. In this case, several oral as well as systemic manifestation of the Addison's disease was encountered.

Addison's disease

PubMed Central

Sarkar, Soumya Brata; Sarkar, Subrata; Ghosh, Supratim; Bandyopadhyay, Subhankar

2012-01-01

Addison's disease is a rare endocrinal disorder, with several oral and systemic manifestations. A variety of pathological processes may cause Addison's disease. Classically, hyperpigmentation is associated with the disease, and intraoral pigmentation is perceived as the initial sign and develops earlier than the dermatological pigmentation. The symptoms of the disease usually progress slowly and an event of illness or accident can make the condition worse and may lead to a life-threatening crisis. In this case, several oral as well as systemic manifestation of the Addison's disease was encountered. PMID:23633816

Lysosomal storage diseases

PubMed Central

Ferreira, Carlos R.; Gahl, William A.

2016-01-01

Lysosomes are cytoplasmic organelles that contain a variety of different hydrolases. A genetic deficiency in the enzymatic activity of one of these hydrolases will lead to the accumulation of the material meant for lysosomal degradation. Examples include glycogen in the case of Pompe disease, glycosaminoglycans in the case of the mucopolysaccharidoses, glycoproteins in the cases of the oligosaccharidoses, and sphingolipids in the cases of Niemann-Pick disease types A and B, Gaucher disease, Tay-Sachs disease, Krabbe disease, and metachromatic leukodystrophy. Sometimes, the lysosomal storage can be caused not by the enzymatic deficiency of one of the hydrolases, but by the deficiency of an activator protein, as occurs in the AB variant of GM2 gangliosidosis. Still other times, the accumulated lysosomal material results from failed egress of a small molecule as a consequence of a deficient transporter, as in cystinosis or Salla disease. In the last couple of decades, enzyme replacement therapy has become available for a number of lysosomal storage diseases. Examples include imiglucerase, taliglucerase and velaglucerase for Gaucher disease, laronidase for Hurler disease, idursulfase for Hunter disease, elosulfase for Morquio disease, galsulfase for Maroteaux-Lamy disease, alglucosidase alfa for Pompe disease, and agalsidase alfa and beta for Fabry disease. In addition, substrate reduction therapy has been approved for certain disorders, such as eliglustat for Gaucher disease. The advent of treatment options for some of these disorders has led to newborn screening pilot studies, and ultimately to the addition of Pompe disease and Hurler disease to the Recommended Uniform Screening Panel (RUSP) in 2015 and 2016, respectively. PMID:29152458

[Inpatients days in patients with respiratory diseases and periodontal disease].

PubMed

Fernández-Plata, Rosario; Olmedo-Torres, Daniel; Martínez-Briseño, David; González-Cruz, Herminia; Casa-Medina, Guillermo; García-Sancho, Cecilia

2017-01-01

Periodontal disease is a chronic inflammatory gingival process that has been associated with the severity of respiratory diseases. In Mexico a prevalence of 78% was found in population with social security and > 60 years old. The aim of this study is to establish the association between periodontal disease and respiratory diseases according to the inpatient days. A cross-sectional study was conducted from January to December 2011. We included hospitalized patients, ≥ 18 years of age, without sedation or intubated. A dentist classified patients into two groups according to the severity of the periodontal disease: mild-to-moderate and severe. We estimated medians of inpatient days by disease and severity. Negative binomial models were adjusted to estimate incidence rate ratios and predicted inpatient days. 3,059 patients were enrolled. The median of observed and predicted inpatient days was higher in the group of severe periodontal disease (p < 0.05). Patients with chronic obstructive pulmonary disease, tuberculosis, and influenza had the highest incidence rates ratios of periodontal disease (p < 0.05). The severity of periodontal disease is positively -associated with inpatient days of patients with respiratory diseases.

Parkinson's Disease

MedlinePlus

... Education Visitor Information RePORT NIH Fact Sheets Home > Parkinson’s Disease Small Text Medium Text Large Text Parkinson’s Disease Parkinson’s disease (PD) is a neurodegenerative disorder, that ...

Prevalence of coeliac disease in Italian patients affected by Addison's disease.

PubMed

Biagi, Federico; Campanella, Jonia; Soriani, Alessandra; Vailati, Alberto; Corazza, Gino R

2006-03-01

It is well known that coeliac disease is associated with autoimmune endocrine diseases, such as autoimmune thyroid disease and insulin-dependent diabetes mellitus. Recently, coeliac disease has been shown in approximately 10% of patients with autoimmune Addison's disease. Addison's disease is the most common cause of primary adrenocortical insufficiency and it shares several clinical features with coeliac disease. Although hyperpigmentation and hypotension are the most specific signs, gastrointestinal symptoms are common and can be the first complaints of the patients. The aim of our study was to investigate the prevalence of coeliac disease in Italian patients with Addison's disease. Seventeen consecutive patients affected by Addison's disease (14 F, mean age 53.9 years, range 26-79 years) were enrolled in the study. Eleven of them were affected by Addison's disease associated with autoimmune thyroid disease and/or insulin-dependent diabetes mellitus; the other 6 patients were suffering from isolated Addison's disease. Diagnosis had been performed at the age of 40.5 years (range 23-55). Steroid treatment had already been started in 16 of the patients. Endomysial antibodies were tested in all of them and a duodenal biopsy was taken in those found to be positive for antiendomysial antibody (EMA). One out of 17 patients was found to be EMA positive. Duodenal biopsy confirmed the diagnosis of coeliac disease by showing subtotal villous atrophy. Although we studied only a small sample, our preliminary results confirmed that Addison's disease is associated with coeliac disease, being present in 5.9% of patients with Addison's disease. Since the symptoms can be similar and treatment of Addison's disease can mask coeliac disease, this association should always be actively investigated.

Inflammatory Bowel Disease and the Risk of Autoimmune Diseases.

PubMed

Wilson, J Claire; Furlano, Raoul I; Jick, Susan S; Meier, Christoph R

2016-02-01

An increased risk of autoimmune disease has been reported in patients with inflammatory bowel disease [IBD]. Using data from the Clinical Practice Research Datalink [CPRD], this study set out to further examine this relationship. Patients with a first-time IBD diagnosis were randomly matched to an equal-sized IBD-free comparison group. Incidence rates for new-onset autoimmune diseases were estimated. A nested case-control analysis comprising IBD patients was conducted, using conditional logistic regression to assess whether IBD severity, duration, or treatment influences the risk of developing autoimmune diseases. During follow-up, 1069 IBD and 585 IBD-free patients developed an incident autoimmune disease. An increased incidence of autoimmune disease was observed in IBD patients (incidence rate [IR] 9.65, 95% confidence interval [CI] 9.09-10.24) compared with the non-IBD comparison group [IR 5.22, 95% CI 4.82-5.66]. In IBD patients, increased disease severity was associated with an increased risk of autoimmune disease development (odds ratio [OR] 1.62, 95% CI 1.28-2.05). Current antibiotic use was also associated with an increased risk [adjusted OR 1.72, 95% CI 1.07-2.78]. A reduced risk of incident autoimmune diseases was observed for current long-term users of aminosalicylates [adjusted OR 0.72, 95% CI 0.57-0.91]. Individuals with IBD had an increased risk of developing an autoimmune disease. Increased disease severity and current antibiotic use were associated with an increased relative risk of developing additional autoimmune diseases in IBD patients. Long-term current aminosalicylate use was associated with a reduced risk. Copyright © 2015 European Crohn’s and Colitis Organisation (ECCO). Published by Oxford University Press. All rights reserved. For permissions, please email: journals.permissions@oup.com.

[Self-perception of disease in patients with chronic diseases].

PubMed

Adrián-Arrieta, L; Casas-Fernández de Tejerina, J M

2017-11-18

The aim of this study is to assess the self-perception of disease by patients with chronic diseases and determine factors related to their perception of disease. Cross-sectional descriptive study performed between September 2014 and April 2015 in nine (6 urban and 3 rural) Health Centres of Navarra, Spain. The participants were recruited by convenience sampling of 196 patients aged over 65 years with at least one chronic disease. The outcome variable was: Perception of disease evaluated through The Brief Illness Perception Questionnaire (9 items. Assessment of the cognitive and emotional representation of the disease. A higher total score indicates a greater threat of disease to the patient). Explanatory variables: Evaluation of the care received through the Patient Assessment of Chronic Illness Care, Katz index, Gijon's socio-family evaluation scale and quality of life using the EQ5D questionnaire. Other variables studied were: gender, age, education, Charlson index, and number of chronic diseases. The association between the total The Brief Illness Perception Questionnaire value and the rest of the variables was calculated. The self-perception of disease is more negative for a larger number of diseases (rho: 0.242; p=.001), greater patient dependence (rho: -0.193; P=.007), and a poorer self-perceived quality of life (EQ VAS rho: -0.484; P<.001. EQ5D5L Index value rho: -0.507; P<.001). The perception that chronic patients have about their disease worsens as their diseases and their dependence increase, and also worsens their quality of life. Copyright © 2017 Sociedad Española de Médicos de Atención Primaria (SEMERGEN). Publicado por Elsevier España, S.L.U. All rights reserved.

Multifactorial disease risk calculator: Risk prediction for multifactorial disease pedigrees.

PubMed

Campbell, Desmond D; Li, Yiming; Sham, Pak C

2018-03-01

Construction of multifactorial disease models from epidemiological findings and their application to disease pedigrees for risk prediction is nontrivial for all but the simplest of cases. Multifactorial Disease Risk Calculator is a web tool facilitating this. It provides a user-friendly interface, extending a reported methodology based on a liability-threshold model. Multifactorial disease models incorporating all the following features in combination are handled: quantitative risk factors (including polygenic scores), categorical risk factors (including major genetic risk loci), stratified age of onset curves, and the partition of the population variance in disease liability into genetic, shared, and unique environment effects. It allows the application of such models to disease pedigrees. Pedigree-related outputs are (i) individual disease risk for pedigree members, (ii) n year risk for unaffected pedigree members, and (iii) the disease pedigree's joint liability distribution. Risk prediction for each pedigree member is based on using the constructed disease model to appropriately weigh evidence on disease risk available from personal attributes and family history. Evidence is used to construct the disease pedigree's joint liability distribution. From this, lifetime and n year risk can be predicted. Example disease models and pedigrees are provided at the website and are used in accompanying tutorials to illustrate the features available. The website is built on an R package which provides the functionality for pedigree validation, disease model construction, and risk prediction. Website: http://grass.cgs.hku.hk:3838/mdrc/current. © 2017 WILEY PERIODICALS, INC.

Repeat expansion disease: Progress and puzzles in disease pathogenesis

PubMed Central

La Spada, Albert R.; Taylor, J. Paul

2015-01-01

Repeat expansion mutations cause at least 22 inherited neurological diseases. The complexity of repeat disease genetics and pathobiology has revealed unexpected shared themes and mechanistic pathways among the diseases, for example, RNA toxicity. Also, investigation of the polyglutamine diseases has identified post-translational modification as a key step in the pathogenic cascade, and has shown that the autophagy pathway plays an important role in the degradation of misfolded proteins – two themes likely to be relevant to the entire neurodegeneration field. Insights from repeat disease research are catalyzing new lines of study that should not only elucidate molecular mechanisms of disease, but also highlight opportunities for therapeutic intervention for these currently untreatable disorders. PMID:20177426

Screen-detected gallstone disease and autoimmune diseases - A cohort study.

PubMed

Shabanzadeh, Daniel Mønsted; Linneberg, Allan; Skaaby, Tea; Sørensen, Lars Tue; Jørgensen, Torben

2018-06-01

Gallstone disease is highly prevalent and is associated with systemic inflammation. To determine whether screen-detected gallstones or cholecystectomy are associated with the occurrence of autoimmune and autoinflammatory diseases and the most common subgroups thereof. A cohort study of three randomly selected general population samples from Copenhagen was performed. Participants (n = 5928) were examined in the period 1982-1992, underwent abdominal ultrasound examination to detect gallstone disease, and followed through national registers until December 2014 (median 24.7 years) for occurrence of immunological diseases. Multivariable Cox regression analyses were performed. Gallstone disease was identified in 10% (591/5928) of participants, of whom 6.8% had gallstones and 3.2% had cholecystectomy at baseline. Gallstone disease was associated with incidence of autoimmune diseases (12.9% versus 7.92%; hazard ratio 1.46; 95% confidence interval [CI], [1.11;1.91]), diabetes mellitus type 1 (5.95% versus 3.67%; 1.53; [1.02;2.30]), and autoimmune thyroid disease (3.70% versus 1.59%; 2.06; [1.26;3.38]). Rheumatoid arthritis, autoinflammatory diseases, or any subgroups thereof were not associated. In a large general population sample, screen-detected gallstone disease was associated with the development of autoimmune diseases during long-term follow-up. Future research efforts are needed to further explore common disease mechanisms. Copyright © 2018 Editrice Gastroenterologica Italiana S.r.l. Published by Elsevier Ltd. All rights reserved.

Discovering disease-disease associations by fusing systems-level molecular data

PubMed Central

Žitnik, Marinka; Janjić, Vuk; Larminie, Chris; Zupan, Blaž; Pržulj, Nataša

2013-01-01

The advent of genome-scale genetic and genomic studies allows new insight into disease classification. Recently, a shift was made from linking diseases simply based on their shared genes towards systems-level integration of molecular data. Here, we aim to find relationships between diseases based on evidence from fusing all available molecular interaction and ontology data. We propose a multi-level hierarchy of disease classes that significantly overlaps with existing disease classification. In it, we find 14 disease-disease associations currently not present in Disease Ontology and provide evidence for their relationships through comorbidity data and literature curation. Interestingly, even though the number of known human genetic interactions is currently very small, we find they are the most important predictor of a link between diseases. Finally, we show that omission of any one of the included data sources reduces prediction quality, further highlighting the importance in the paradigm shift towards systems-level data fusion. PMID:24232732

Discovering disease-disease associations by fusing systems-level molecular data.

PubMed

Žitnik, Marinka; Janjić, Vuk; Larminie, Chris; Zupan, Blaž; Pržulj, Nataša

2013-11-15

The advent of genome-scale genetic and genomic studies allows new insight into disease classification. Recently, a shift was made from linking diseases simply based on their shared genes towards systems-level integration of molecular data. Here, we aim to find relationships between diseases based on evidence from fusing all available molecular interaction and ontology data. We propose a multi-level hierarchy of disease classes that significantly overlaps with existing disease classification. In it, we find 14 disease-disease associations currently not present in Disease Ontology and provide evidence for their relationships through comorbidity data and literature curation. Interestingly, even though the number of known human genetic interactions is currently very small, we find they are the most important predictor of a link between diseases. Finally, we show that omission of any one of the included data sources reduces prediction quality, further highlighting the importance in the paradigm shift towards systems-level data fusion.

[Imported diseases, the epidemiological challenge of communicable diseases (author's transl)].

PubMed

Gsell, O

1978-06-01

Imported infectious diseases being seen more often in consequence of intensive human contacts with developing countries through labourers and tourists, but also in consequence of immigration and of import of exotic diseases and of food, favoured by the quick air traffic, can be divided into 5 groups: 1. Imported diseases from the tropics (exotic diseases) 2. Imported agents from the tropics with human infection in the native country 3. Re-importation of diseases which were eliminated in the homelands 4. Diseases which are as well imported as also native 5. Single disease importations from neighboured countries. The imported infections are discussed systematically, caused by viruses, rickettsias, bacteries, protozoes, fungi, and followed by references to statistics, laboratory infection reports, questions of insurance. Imported diseases of the future are especially mentioned. Knowledge of the tropical infections as a main danger for our "civilized" world should be part of the medical training, since imported infectious diseases cause an epidemiologic challenge in the modern picture of communicable infections.

Mondor's disease of penis: a forgotten disease

PubMed Central

Kumar, B; Narang, T; Radotra, B; Gupta, S

2005-01-01

Background: Mondor's disease of penis is an uncommon genital condition involving the penile sulcus in a circumferential manner. Although this disorder is almost always self limited, it is associated with considerable psychological stress and sexual disharmony. Methods: All patients attending the sexually transmitted disease clinic during 1991–2003 were examined for evidence of Mondor's disease of penis. Detailed history and clinical findings were recorded in a specially designed proforma. Histopathological examination and staining with CD31 and CD34 monoclonal antibodies was also done in 11 patients. Results: 18 out of 1296 patients attending the sexually transmitted diseases (STD) clinic during the study period were found to have penile Mondor's disease, giving an incidence of 1.39%. 17 patients had history of one or more episodes of STDs. Histopathological specimens showed prominent vessels with plump endothelial cells and thickened blood vessel walls. The occasional vessel showed complete occlusion of its lumen. Conclusions: In our study we did not find any evidence of lymphatic involvement. Non-lymphatic vessels, mainly veins, were predominantly involved. In our opinion Mondor's phlebitis of penis or Mondor's disease of penis are better terms to describe the condition rather than non-venereal sclerosing lymphangitis. PMID:16326851

Lewy Body Disease: Clinical and Pathological "Overlap Syndrome" Between Synucleinopathies (Parkinson Disease) and Tauopathies (Alzheimer Disease).

PubMed

Foguem, Clovis; Manckoundia, Patrick

2018-04-08

Lewy body disease (LBD) is a neurodegenerative disease resulting in dementia. It shares clinical and pathological features with Parkinson disease (PD), the most frequent synucleinopathy, Parkinson disease dementia (PDD), and Alzheimer disease (AD), a tauopathy. Even though the diagnostic criteria for these neurodegenerative diseases are clearly established, and recently revised for LBD, their precise clinical diagnosis is often difficult because LBD, PD, PDD, and AD share epidemiological, clinical, and pathological characteristics. This manuscript discusses current understanding of overlapping symptoms and the particular features of LBD, PD, and AD. It also describes features that could facilitate the diagnosis of each of these diseases. We concluded that the concept of neurodegenerative "overlap" syndrome, which includes the accepted diagnosis of LBD, may be taken in account and should contribute to clarifying LBD and definitions of close differential diagnoses. This should allow clinicians to suspect LBD at an earlier stage and provide better patient care.

Chagas disease and systemic autoimmune diseases among Bolivian patients in Switzerland.

PubMed

Jackson, Yves; Pula, Drenusha Vieira de Mello; Finckh, Axel; Chizzolini, Carlo; Chappuis, François

2018-02-05

Chronic cardiomyopathy occurs in 20-40% of the patients with Chagas disease. Autoimmune mechanisms may contribute to its pathogenesis. We diagnosed several cases of systemic autoimmune diseases among Bolivian migrants in Geneva with a high prevalence of Chagas disease. We tested the hypothesis of a clinical association between systemic autoimmune diseases and Chagas disease, particularly with the development of cardiomyopathy. We retrospectively searched the medical records of all Bolivian patients visiting Geneva University Hospitals between 2012 and 2015 for diagnosis of Chagas disease or systemic autoimmune diseases. Of the 2,189 eligible patients, 28 [1.3%; 95% confidence interval (CI) = 0.9-1.9%] presented with systemic autoimmune disease. The Chagas status was known in 903 (41.3%) patient, of whom 244 (27.0%; 95% CI = 24.2-30.0%) were positive. Eight (28.6%; 95% CI = 15.3-47.1%) of the 28 cases of systemic autoimmune disease had Chagas disease. We found no association between both entities (p = 1.000) or with Chagasic cardiomyopathy (p = 0.729). Moreover, there was no evidence of a temporal relationship between antiparasitic chemotherapy and the development of systemic autoimmune diseases. Our results do not support a clinical association between chronic Chagas disease and systemic autoimmune diseases. However, prospective studies in areas endemic for Chagas disease should better assess the prevalence of systemic autoimmune diseases and thus a possible relationship with this infection.

Crohn's Disease

MedlinePlus

Crohn's disease causes inflammation of the digestive system. It is one of a group of diseases called inflammatory ... small intestine called the ileum. The cause of Crohn's disease is unknown. It may be due to an ...

Huntington's Disease

MedlinePlus

Huntington's disease (HD) is an inherited disease that causes certain nerve cells in the brain to waste away. ... express emotions. If one of your parents has Huntington's disease, you have a 50 percent chance of getting ...

Parkinson's Disease

MedlinePlus

... common diseases to help prevent disease and improve human health. Explore Research Funding Opportunities Grants Grants Explore Grants ... health sciences to understand human disease and improve human health. Use the search box to see research highlights ...

Universal etiology, multifactorial diseases and the constitutive model of disease classification.

PubMed

Fuller, Jonathan

2018-02-01

Infectious diseases are often said to have a universal etiology, while chronic and noncommunicable diseases are said to be multifactorial in their etiology. It has been argued that the universal etiology of an infectious disease results from its classification using a monocausal disease model. In this article, I will reconstruct the monocausal model and argue that modern 'multifactorial diseases' are not monocausal by definition. 'Multifactorial diseases' are instead defined according to a constitutive disease model. On closer analysis, infectious diseases are also defined using the constitutive model rather than the monocausal model. As a result, our classification models alone cannot explain why infectious diseases have a universal etiology while chronic and noncommunicable diseases lack one. The explanation is instead provided by the Nineteenth Century germ theorists. Copyright © 2017 Elsevier Ltd. All rights reserved.

Recognizing global burden of cardiovascular disease and related chronic diseases.

PubMed

Kelly, Bridget B; Narula, Jagat; Fuster, Valentín

2012-01-01

Cardiovascular disease is the leading cause of death worldwide, affecting not only high-income but also low- and middle-income countries. Nearly 80 percent of all estimated cardiovascular disease-related deaths worldwide now occur in low- and middle-income countries, where nearly 30 percent of all deaths are attributable to cardiovascular disease. The health burden of cardiovascular disease and other chronic diseases is also accompanied by a significant deleterious economic impact at the level of both national economies and households. The global trends in the health and economic burden of cardiovascular disease provide a compelling argument in support of prioritizing urgent yet carefully planned efforts to prevent and control cardiovascular disease worldwide-and especially in low- and middle-income countries. After decades of escalating efforts to draw attention to the high burden of cardiovascular disease and other chronic diseases, this critically important issue is now emerging as a more central part of the global health and development agenda. The breadth of behavioral, biological, social, environmental, and systems-level factors that contribute to cardiovascular disease necessitates multisectoral approaches across the lifecourse that promote healthful lifestyles, reduce risk, and reduce cardiovascular-disease morbidity and mortality through the delivery of quality health care services. Given that the complex interactions among the determinants of cardiovascular disease vary in different contexts, real progress in control efforts will come through approaches that are driven by a country's disease burden and risk profile, capacities, resources, and priorities-approaches that are led by a country's key decision-makers and stakeholders, including governments, civil society, the private sector, and communities. Many countries are already establishing efforts to address chronic diseases. In addition to these locally driven efforts, success will require active

Heart Disease, Stroke, or Other Cardiovascular Disease and Adult Vaccination

MedlinePlus

... Adult Diseases Resources Heart Disease, Stroke, or Other Cardiovascular Disease and Adult Vaccination Language: English (US) Español (Spanish) ... important step in staying healthy. If you have cardiovascular disease, talk with your doctor about getting your vaccinations ...

Prostate Diseases

MedlinePlus

... Home › Aging & Health A to Z › Prostate Diseases Font size A A A Print Share Glossary Basic ... body. Approximately 3 million American men have some type of prostate disease. The most common prostate diseases ...

Hodgkin Disease

MedlinePlus

... blood tests, and a biopsy. Treatment depends on how far the disease has spread. It often includes radiation therapy or chemotherapy. The earlier the disease is diagnosed, the more effective the treatment. In most cases, Hodgkin disease can ...

Chagas disease and systemic autoimmune diseases among Bolivian patients in Switzerland

PubMed Central

Jackson, Yves; Pula, Drenusha Vieira de Mello; Finckh, Axel; Chizzolini, Carlo; Chappuis, François

2018-01-01

BACKGROUND Chronic cardiomyopathy occurs in 20-40% of the patients with Chagas disease. Autoimmune mechanisms may contribute to its pathogenesis. We diagnosed several cases of systemic autoimmune diseases among Bolivian migrants in Geneva with a high prevalence of Chagas disease. OBJECTIVES We tested the hypothesis of a clinical association between systemic autoimmune diseases and Chagas disease, particularly with the development of cardiomyopathy. METHODS We retrospectively searched the medical records of all Bolivian patients visiting Geneva University Hospitals between 2012 and 2015 for diagnosis of Chagas disease or systemic autoimmune diseases. FINDINGS Of the 2,189 eligible patients, 28 [1.3%; 95% confidence interval (CI) = 0.9-1.9%] presented with systemic autoimmune disease. The Chagas status was known in 903 (41.3%) patient, of whom 244 (27.0%; 95% CI = 24.2-30.0%) were positive. Eight (28.6%; 95% CI = 15.3-47.1%) of the 28 cases of systemic autoimmune disease had Chagas disease. We found no association between both entities (p = 1.000) or with Chagasic cardiomyopathy (p = 0.729). Moreover, there was no evidence of a temporal relationship between antiparasitic chemotherapy and the development of systemic autoimmune diseases. CONCLUSIONS Our results do not support a clinical association between chronic Chagas disease and systemic autoimmune diseases. However, prospective studies in areas endemic for Chagas disease should better assess the prevalence of systemic autoimmune diseases and thus a possible relationship with this infection. PMID:29412344

Kyasanur Forest Disease (KFD): Rare Disease of Zoonotic Origin.

PubMed

Muraleedharan, M

2016-09-01

Kyasanur forest disease (KFD) is a rare tick borne zoonotic disease that causes acute febrile hemorrhagic illness in humans and monkeys especially in southern part of India. The disease is caused by highly pathogenic KFD virus (KFDV) which belongs to member of the genus Flavivirus and family Flaviviridae. The disease is transmitted to monkeys and humans by infective tick Haemaphysalisspinigera. Seasonal outbreaks are expected to occur during the months of January to June. The aim of this paper is to briefly summarize the epidemiology, mode of transmission of KFD virus, clinical findings, diagnosis, treatment, control and prevention of the disease..

Retinal Diseases

MedlinePlus

... You are here Home Listen Retinal Diseases Macular Degeneration Age-related macular degeneration (AMD) is a retinal degenerative disease that causes ... is the most common form of inherited juvenile macular degeneration. The progressive vision loss associated with Stargardt disease ...

Unfoldomics of human diseases: linking protein intrinsic disorder with diseases

PubMed Central

Uversky, Vladimir N; Oldfield, Christopher J; Midic, Uros; Xie, Hongbo; Xue, Bin; Vucetic, Slobodan; Iakoucheva, Lilia M; Obradovic, Zoran; Dunker, A Keith

2009-01-01

Background Intrinsically disordered proteins (IDPs) and intrinsically disordered regions (IDRs) lack stable tertiary and/or secondary structure yet fulfills key biological functions. The recent recognition of IDPs and IDRs is leading to an entire field aimed at their systematic structural characterization and at determination of their mechanisms of action. Bioinformatics studies showed that IDPs and IDRs are highly abundant in different proteomes and carry out mostly regulatory functions related to molecular recognition and signal transduction. These activities complement the functions of structured proteins. IDPs and IDRs were shown to participate in both one-to-many and many-to-one signaling. Alternative splicing and posttranslational modifications are frequently used to tune the IDP functionality. Several individual IDPs were shown to be associated with human diseases, such as cancer, cardiovascular disease, amyloidoses, diabetes, neurodegenerative diseases, and others. This raises questions regarding the involvement of IDPs and IDRs in various diseases. Results IDPs and IDRs were shown to be highly abundant in proteins associated with various human maladies. As the number of IDPs related to various diseases was found to be very large, the concepts of the disease-related unfoldome and unfoldomics were introduced. Novel bioinformatics tools were proposed to populate and characterize the disease-associated unfoldome. Structural characterization of the members of the disease-related unfoldome requires specialized experimental approaches. IDPs possess a number of unique structural and functional features that determine their broad involvement into the pathogenesis of various diseases. Conclusion Proteins associated with various human diseases are enriched in intrinsic disorder. These disease-associated IDPs and IDRs are real, abundant, diversified, vital, and dynamic. These proteins and regions comprise the disease-related unfoldome, which covers a significant part

The lysosomal storage disease continuum with ageing-related neurodegenerative disease.

PubMed

Lloyd-Evans, Emyr; Haslett, Luke J

2016-12-01

Lysosomal storage diseases and diseases of ageing share many features both at the physiological level and with respect to the mechanisms that underlie disease pathogenesis. Although the exact pathophysiology is not exactly the same, it is astounding how many similar pathways are altered in all of these diseases. The aim of this review is to provide a summary of the shared disease mechanisms, outlining the similarities and differences and how genetics, insight into rare diseases and functional research has changed our perspective on the causes underlying common diseases of ageing. The lysosome should no longer be considered as just the stomach of the cell or as a suicide bag, it has an emerging role in cellular signalling, nutrient sensing and recycling. The lysosome is of fundamental importance in the pathophysiology of diseases of ageing and by comparing against the LSDs we not only identify common pathways but also therapeutic targets so that ultimately more effective treatments can be developed for all neurodegenerative diseases. Copyright © 2016. Published by Elsevier B.V.

Coronary Artery Disease | Coronary Artery Disease | NIH MedlinePlus the Magazine

MedlinePlus

... of this page please turn Javascript on. Feature: Coronary Artery Disease Coronary Artery Disease Past Issues / Fall 2010 Table of Contents David ... up inside your arteries. One atherosclerosis-related disease, coronary artery disease (CAD) is the most common heart disease and ...

Lyme disease

MedlinePlus

... Borrelia burgdorferi Tick, deer engorged on the skin Lyme disease - Borrelia burgdorferi organism Tick, deer - adult female Lyme disease ... Accessed January 11, 2018. Steere AC. Lyme disease (Lyme borreliosis) due to Borrelia burgdorferi . In: Bennett JE, Dolin R, Blaser MJ, ...

Disease control operations

USGS Publications Warehouse

Friend, Milton; Franson, J. Christian

1987-01-01

Individual disease outbreaks have killed many thousands of animals on numerous occasions. Tens of thousands of migratory birds have died in single die-offs with as many as 1,000 birds succumbing in 1 day. In mammals, individual disease outbreaks have killed hundreds to thousands of animals with, for example, hemorrhagic disease in white-tailed deer, distemper in raccoon, Errington's disease in muskrat, and sylvatic plague in wild rodents. The ability to successfully combat such explosive situations is highly dependent n the readiness of field personnel to deal with them. Because many disease agents can spread though wildlife populations very fast, advance preparation is essential in preventing infected animals from spreading disease to additional species and locations. Carefully though-out disease contingency plans should be developed as practical working documents for field personnel and updated as necessary. Such well-designed plans can prove invaluable in minimizing wildlife losses and costs associated with disease control activities. Although requirements for disease control operations vary and must be tailored to each situation, all disease contingency planning involved general concepts and basic biological information. This chapter, intended as a practical guide, identifies the major activities and needs of disease control operations, and relates them to disease contingency planning.

Atlantoaxial Chordoma in Two Patients with Occipital Neuralgia and Cervicalgia.

PubMed

Kim, Won Seop; Park, Jong Taek; Lee, Young Bok; Park, Woo Young

2014-09-01

Chordoma arises from cellular remnants of the notochord. It is the most common primary malignancy of the spine in adults. Approximately 50% of chordomas arise from the sacrococcygeal area with other areas of the spine giving rise to another 15% of chordomas. Following complete resection, patients can expect a 5-year survival rate of 85%. Chordoma has a recurrence rate of 40%, which leads to a less favorable prognosis. Here, we report two cases of chordoma presenting with occipital neuralgia and cervicalgia. The first patient presented with a C1-C2 chordoma. He rejected surgical intervention and ultimately died of respiratory failure. The second patient had an atlantoaxial chordoma and underwent surgery because of continued occipital neuralgia and cervicalgia despite nerve block. This patient has remained symptom-free since his operation. The presented cases show that the patients' willingness to participate in treatment can lead to appropriate and aggressive management of cancer pain, resulting in better outcomes in cancer treatment.

Atlantoaxial Chordoma in Two Patients with Occipital Neuralgia and Cervicalgia

PubMed Central

Kim, Won Seop; Park, Jong Taek; Lee, Young Bok; Park, Woo Young

2014-01-01

Chordoma arises from cellular remnants of the notochord. It is the most common primary malignancy of the spine in adults. Approximately 50% of chordomas arise from the sacrococcygeal area with other areas of the spine giving rise to another 15% of chordomas. Following complete resection, patients can expect a 5-year survival rate of 85%. Chordoma has a recurrence rate of 40%, which leads to a less favorable prognosis. Here, we report two cases of chordoma presenting with occipital neuralgia and cervicalgia. The first patient presented with a C1–C2 chordoma. He rejected surgical intervention and ultimately died of respiratory failure. The second patient had an atlantoaxial chordoma and underwent surgery because of continued occipital neuralgia and cervicalgia despite nerve block. This patient has remained symptom-free since his operation. The presented cases show that the patients’ willingness to participate in treatment can lead to appropriate and aggressive management of cancer pain, resulting in better outcomes in cancer treatment. PMID:26064862

Targeting Wolman Disease and Cholesteryl Ester Storage Disease: Disease Pathogenesis and Therapeutic Development

PubMed Central

Aguisanda, Francis; Thorne, Natasha; Zheng, Wei

2017-01-01

Wolman disease (WD) and cholesteryl ester storage disease (CESD) are lysosomal storage diseases (LSDs) caused by a deficiency in lysosomal acid lipase (LAL) due to mutations in the LIPA gene. This enzyme is critical to the proper degradation of cholesterol in the lysosome. LAL function is completely lost in WD while some residual activity remains in CESD. Both are rare diseases with an incidence rate of less than 1/100,000 births for WD and approximate 2.5/100,000 births for CESD. Clinical manifestation of WD includes hepatosplenomegaly, calcified adrenal glands, severe malabsorption and a failure to thrive. As in CESD, histological analysis of WD tissues reveals the accumulation of triglycerides (TGs) and esterified cholesterol (EC) in cellular lysosomes. However, the clinical presentation of CESD is less severe and more variable than WD. This review is to provide an overview of the disease pathophysiology and the current state of therapeutic development for both of WD and CESD. The review will also discuss the application of patient derived iPSCs for further drug discovery. PMID:28401034

Prevalence of periodontal disease, its association with systemic diseases and prevention

PubMed Central

Nazir, Muhammad Ashraf

2017-01-01

Periodontal diseases are prevalent both in developed and developing countries and affect about 20-50% of global population. High prevalence of periodontal disease in adolescents, adults, and older individuals makes it a public health concern. Several risk factors such as smoking, poor oral hygiene, diabetes, medication, age, hereditary, and stress are related to periodontal diseases. Robust evidence shows the association of periodontal diseases with systemic diseases such as cardiovascular disease, diabetes, and adverse pregnancy outcomes. Periodontal disease is likely to cause 19% increase in the risk of cardiovascular disease, and this increase in relative risk reaches to 44% among individuals aged 65 years and over. Type 2 diabetic individuals with severe form of periodontal disease have 3.2 times greater mortality risk compared with individuals with no or mild periodontitis. Periodontal therapy has been shown to improve glycemic control in type 2 diabetic subjects. Periodontitis is related to maternal infection, preterm birth, low birth weight, and preeclampsia. Oral disease prevention strategies should be incorporated in chronic systemic disease preventive initiatives to curtail the burden of disease in populations. The reduction in the incidence and prevalence of periodontal disease can reduce its associated systemic diseases and can also minimize their financial impact on the health-care systems. It is hoped that medical, dental practitioners, and other health-care professionals will get familiar with perio-systemic link and risk factors, and need to refer to the specialized dental or periodontal care. PMID:28539867

Prevalence of periodontal disease, its association with systemic diseases and prevention.

PubMed

Nazir, Muhammad Ashraf

2017-01-01

Periodontal diseases are prevalent both in developed and developing countries and affect about 20-50% of global population. High prevalence of periodontal disease in adolescents, adults, and older individuals makes it a public health concern. Several risk factors such as smoking, poor oral hygiene, diabetes, medication, age, hereditary, and stress are related to periodontal diseases. Robust evidence shows the association of periodontal diseases with systemic diseases such as cardiovascular disease, diabetes, and adverse pregnancy outcomes. Periodontal disease is likely to cause 19% increase in the risk of cardiovascular disease, and this increase in relative risk reaches to 44% among individuals aged 65 years and over. Type 2 diabetic individuals with severe form of periodontal disease have 3.2 times greater mortality risk compared with individuals with no or mild periodontitis. Periodontal therapy has been shown to improve glycemic control in type 2 diabetic subjects. Periodontitis is related to maternal infection, preterm birth, low birth weight, and preeclampsia. Oral disease prevention strategies should be incorporated in chronic systemic disease preventive initiatives to curtail the burden of disease in populations. The reduction in the incidence and prevalence of periodontal disease can reduce its associated systemic diseases and can also minimize their financial impact on the health-care systems. It is hoped that medical, dental practitioners, and other health-care professionals will get familiar with perio-systemic link and risk factors, and need to refer to the specialized dental or periodontal care.

Best practice assessment of disease modelling for infectious disease outbreaks.

PubMed

Dembek, Z F; Chekol, T; Wu, A

2018-05-08

During emerging disease outbreaks, public health, emergency management officials and decision-makers increasingly rely on epidemiological models to forecast outbreak progression and determine the best response to health crisis needs. Outbreak response strategies derived from such modelling may include pharmaceutical distribution, immunisation campaigns, social distancing, prophylactic pharmaceuticals, medical care, bed surge, security and other requirements. Infectious disease modelling estimates are unavoidably subject to multiple interpretations, and full understanding of a model's limitations may be lost when provided from the disease modeller to public health practitioner to government policymaker. We review epidemiological models created for diseases which are of greatest concern for public health protection. Such diseases, whether transmitted from person-to-person (Ebola, influenza, smallpox), via direct exposure (anthrax), or food and waterborne exposure (cholera, typhoid) may cause severe illness and death in a large population. We examine disease-specific models to determine best practices characterising infectious disease outbreaks and facilitating emergency response and implementation of public health policy and disease control measures.

Coronary heart disease

MedlinePlus

Heart disease, Coronary heart disease, Coronary artery disease; Arteriosclerotic heart disease; CHD; CAD ... buildup of plaque in the arteries to your heart. This may also be called hardening of the ...

Miscellaneous fungal diseases

USGS Publications Warehouse

Friend, M.

1999-01-01

As for other types of disease, fungal infections probably are more common causes of disease in wild birds than is currently recognized. Also, the similarity in gross lesions produced by some fungi mask the detection of less common fungi as disease agents. Numerous types of disease-causing fungi in addition to Aspergillus fumigatus and Candida albicans have been isolated from birds; most isolations have been from poultry and wild birds being maintained in captivity. Enhanced disease surveillance that is often associated with privately owned birds and greater opportunity to detect disease in confined birds are reasons for these findings rather than any known differences in the occurrence of fungal diseases in free-ranging and captive birds. Many of the reported infections appear to have been opportunistic invasions by the fungi involved. The important points are that many fungi are capable of causing disease in birds but their collective impacts do not rival A. fumigatus as a single cause of disease in wild birds. Nevertheless, it is important to be aware of the diversity of pathogenic or disease causing fungi.

Meniere's Disease.

ERIC Educational Resources Information Center

Schessel, David A.

1997-01-01

Meniere's disease is characterized by unpredictable spells of severe vertigo and fluctuations in hearing and tinnitus. This article discusses the incidence of Meniere's disease, the present status of our understanding of this disease, controversies in its diagnosis, and the multiple therapeutic modalities recruited in its treatment. (Contains…

Disease Burden of 32 Infectious Diseases in the Netherlands, 2007-2011.

PubMed

van Lier, Alies; McDonald, Scott A; Bouwknegt, Martijn; Kretzschmar, Mirjam E; Havelaar, Arie H; Mangen, Marie-Josée J; Wallinga, Jacco; de Melker, Hester E

2016-01-01

Infectious disease burden estimates provided by a composite health measure give a balanced view of the true impact of a disease on a population, allowing the relative impact of diseases that differ in severity and mortality to be monitored over time. This article presents the first national disease burden estimates for a comprehensive set of 32 infectious diseases in the Netherlands. The average annual disease burden was computed for the period 2007-2011 for selected infectious diseases in the Netherlands using the disability-adjusted life years (DALY) measure. The pathogen- and incidence-based approach was adopted to quantify the burden due to both morbidity and premature mortality associated with all short and long-term consequences of infection. Natural history models, disease progression probabilities, disability weights, and other parameters were adapted from previous research. Annual incidence was obtained from statutory notification and other surveillance systems, which was corrected for under-ascertainment and under-reporting. The highest average annual disease burden was estimated for invasive pneumococcal disease (9444 DALYs/year; 95% uncertainty interval [UI]: 8911-9961) and influenza (8670 DALYs/year; 95% UI: 8468-8874), which represents 16% and 15% of the total burden of all 32 diseases, respectively. The remaining 30 diseases ranked by number of DALYs/year from high to low were: HIV infection, legionellosis, toxoplasmosis, chlamydia, campylobacteriosis, pertussis, tuberculosis, hepatitis C infection, Q fever, norovirus infection, salmonellosis, gonorrhoea, invasive meningococcal disease, hepatitis B infection, invasive Haemophilus influenzae infection, shigellosis, listeriosis, giardiasis, hepatitis A infection, infection with STEC O157, measles, cryptosporidiosis, syphilis, rabies, variant Creutzfeldt-Jakob disease, tetanus, mumps, rubella, diphtheria, and poliomyelitis. The very low burden for the latter five diseases can be attributed to the

Disease Burden of 32 Infectious Diseases in the Netherlands, 2007-2011

PubMed Central

Bouwknegt, Martijn; Kretzschmar, Mirjam E.; Mangen, Marie-Josée J.; Wallinga, Jacco; de Melker, Hester E.

2016-01-01

Background Infectious disease burden estimates provided by a composite health measure give a balanced view of the true impact of a disease on a population, allowing the relative impact of diseases that differ in severity and mortality to be monitored over time. This article presents the first national disease burden estimates for a comprehensive set of 32 infectious diseases in the Netherlands. Methods and Findings The average annual disease burden was computed for the period 2007–2011 for selected infectious diseases in the Netherlands using the disability-adjusted life years (DALY) measure. The pathogen- and incidence-based approach was adopted to quantify the burden due to both morbidity and premature mortality associated with all short and long-term consequences of infection. Natural history models, disease progression probabilities, disability weights, and other parameters were adapted from previous research. Annual incidence was obtained from statutory notification and other surveillance systems, which was corrected for under-ascertainment and under-reporting. The highest average annual disease burden was estimated for invasive pneumococcal disease (9444 DALYs/year; 95% uncertainty interval [UI]: 8911–9961) and influenza (8670 DALYs/year; 95% UI: 8468–8874), which represents 16% and 15% of the total burden of all 32 diseases, respectively. The remaining 30 diseases ranked by number of DALYs/year from high to low were: HIV infection, legionellosis, toxoplasmosis, chlamydia, campylobacteriosis, pertussis, tuberculosis, hepatitis C infection, Q fever, norovirus infection, salmonellosis, gonorrhoea, invasive meningococcal disease, hepatitis B infection, invasive Haemophilus influenzae infection, shigellosis, listeriosis, giardiasis, hepatitis A infection, infection with STEC O157, measles, cryptosporidiosis, syphilis, rabies, variant Creutzfeldt-Jakob disease, tetanus, mumps, rubella, diphtheria, and poliomyelitis. The very low burden for the latter five

Newcastle disease

USGS Publications Warehouse

Docherty, D.E.; Friend, M.

1999-01-01

Newcastle Disease (ND) in domestic poultry is a focus for concern throughout much of the world’s agricultural community because of severe economic losses that have occurred from illness, death, and reduced egg production following infection with pathogenic or disease causing strains. Prior to 1990, this disease had rarely been reported as a cause of mortality in the free-living native birds of the United States or Canada. Repeated large-scale losses of double-crested cormorants from ND in both countries has resulted in a need for enhanced awareness of ND as a disease of wild birds and, therefore, its inclusion within this Manual. Background information about ND in poultry is needed to provide a perspective for understanding the complexity of the disease agent, Newcastle disease virus (NDV). Some general information about ND in other avian species is also provided, but the primary focus for this chapter is the effect of NDV on double-crested cormorants.

[Emerging noninfectious diseases].

PubMed

Consiglio, Ezequiel

2008-11-01

In recent years, emerging diseases were defined as being infectious, acquiring high incidence, often suddenly, or being a threat or an unexpected phenomenon. This study discusses the hallmarks of emerging diseases, describing the existence of noninfectious emerging diseases, and elaborating on the advantages of defining noninfectious diseases as emerging ones. From the discussion of various mental health disorders, nutritional deficiencies, external injuries and violence outcomes, work injuries and occupational health, and diseases due to environmental factors, the conclusion is drawn that a wide variety of noninfectious diseases can be defined as emergent. Noninfectious emerging diseases need to be identified in order to improve their control and management. A new definition of "emergent disease" is proposed, one that emphasizes the pathways of emergence and conceptual traits, rather than descriptive features.

DiseaseConnect: a comprehensive web server for mechanism-based disease–disease connections

PubMed Central

Liu, Chun-Chi; Tseng, Yu-Ting; Li, Wenyuan; Wu, Chia-Yu; Mayzus, Ilya; Rzhetsky, Andrey; Sun, Fengzhu; Waterman, Michael; Chen, Jeremy J. W.; Chaudhary, Preet M.; Loscalzo, Joseph; Crandall, Edward; Zhou, Xianghong Jasmine

2014-01-01

The DiseaseConnect (http://disease-connect.org) is a web server for analysis and visualization of a comprehensive knowledge on mechanism-based disease connectivity. The traditional disease classification system groups diseases with similar clinical symptoms and phenotypic traits. Thus, diseases with entirely different pathologies could be grouped together, leading to a similar treatment design. Such problems could be avoided if diseases were classified based on their molecular mechanisms. Connecting diseases with similar pathological mechanisms could inspire novel strategies on the effective repositioning of existing drugs and therapies. Although there have been several studies attempting to generate disease connectivity networks, they have not yet utilized the enormous and rapidly growing public repositories of disease-related omics data and literature, two primary resources capable of providing insights into disease connections at an unprecedented level of detail. Our DiseaseConnect, the first public web server, integrates comprehensive omics and literature data, including a large amount of gene expression data, Genome-Wide Association Studies catalog, and text-mined knowledge, to discover disease–disease connectivity via common molecular mechanisms. Moreover, the clinical comorbidity data and a comprehensive compilation of known drug–disease relationships are additionally utilized for advancing the understanding of the disease landscape and for facilitating the mechanism-based development of new drug treatments. PMID:24895436

Rheumatic heart disease: infectious disease origin, chronic care approach.

PubMed

Katzenellenbogen, Judith M; Ralph, Anna P; Wyber, Rosemary; Carapetis, Jonathan R

2017-11-29

Rheumatic heart disease (RHD) is a chronic cardiac condition with an infectious aetiology, causing high disease burden in low-income settings. Affected individuals are young and associated morbidity is high. However, RHD is relatively neglected due to the populations involved and its lower incidence relative to other heart diseases. In this narrative review, we describe how RHD care can be informed by and integrated with models of care developed for priority non-communicable diseases (coronary heart disease), and high-burden communicable diseases (tuberculosis). Examining the four-level prevention model (primordial through tertiary prevention) suggests primordial and primary prevention of RHD can leverage off existing tuberculosis control efforts, given shared risk factors. Successes in coronary heart disease control provide inspiration for similarly bold initiatives for RHD. Further, we illustrate how the Chronic Care Model (CCM), developed for use in non-communicable diseases, offers a relevant framework to approach RHD care. Systems strengthening through greater integration of services can improve RHD programs. Strengthening of systems through integration/linkages with other well-performing and resourced services in conjunction with policies to adopt the CCM framework for the secondary and tertiary prevention of RHD in settings with limited resources, has the potential to significantly reduce the burden of RHD globally. More research is required to provide evidence-based recommendations for policy and service design.

Mad Cow Disease

MedlinePlus

... Safe Videos for Educators Search English Español Mad Cow Disease KidsHealth / For Teens / Mad Cow Disease What's ... are people to get it? What Is Mad Cow Disease? Mad cow disease is an incurable, fatal ...

Lyme Disease.

ERIC Educational Resources Information Center

Taylor, George C.

1991-01-01

This overview of the public health significance of Lyme disease includes the microbiological specifics of the infectious spirochete, the entomology and ecology of the ticks which are the primary disease carrier, the clinical aspects and treatment stages, the known epidemiological patterns, and strategies for disease control and for expanded public…

Serum Immune Responses Predict Rapid Disease Progression among Children with Crohn’s Disease: Immune Responses Predict Disease Progression

PubMed Central

Dubinsky, Marla C.; Lin, Ying-Chao; Dutridge, Debra; Picornell, Yoana; Landers, Carol J.; Farrior, Sharmayne; Wrobel, Iwona; Quiros, Antonio; Vasiliauskas, Eric A.; Grill, Bruce; Israel, David; Bahar, Ron; Christie, Dennis; Wahbeh, Ghassan; Silber, Gary; Dallazadeh, Saied; Shah, Praful; Thomas, Danny; Kelts, Drew; Hershberg, Robert M.; Elson, Charles O.; Targan, Stephan R.; Taylor, Kent D.; Rotter, Jerome I.; Yang, Huiying

2007-01-01

BACKGROUND AND AIM Crohn’s disease (CD) is a heterogeneous disorder characterized by diverse clinical phenotypes. Childhood-onset CD has been described as a more aggressive phenotype. Genetic and immune factors may influence disease phenotype and clinical course. We examined the association of immune responses to microbial antigens with disease behavior and prospectively determined the influence of immune reactivity on disease progression in pediatric CD patients. METHODS Sera were collected from 196 pediatric CD cases and tested for immune responses: anti-I2, anti-outer membrane protein C (anti-OmpC), anti-CBir1 flagellin (anti-CBir1), and anti-Saccharomyces-cerevisiae (ASCA) using ELISA. Associations between immune responses and clinical phenotype were evaluated. RESULTS Fifty-eight patients (28%) developed internal penetrating and/or stricturing (IP/S) disease after a median follow-up of 18 months. Both anti-OmpC (p < 0.0006) and anti-I2 (p < 0.003) were associated with IP/S disease. The frequency of IP/S disease increased with increasing number of immune responses (p trend = 0.002). The odds of developing IP/S disease were highest in patients positive for all four immune responses (OR (95% CI): 11 (1.5–80.4); p = 0.03). Pediatric CD patients positive for ≥1 immune response progressed to IP/S disease sooner after diagnosis as compared to those negative for all immune responses (p < 0.03). CONCLUSIONS The presence and magnitude of immune responses to microbial antigens are significantly associated with more aggressive disease phenotypes among children with CD. This is the first study to prospectively demonstrate that the time to develop a disease complication in children is significantly faster in the presence of immune reactivity, thereby predicting disease progression to more aggressive disease phenotypes among pediatric CD patients. PMID:16454844

Interstitial Lung Diseases

MedlinePlus

Interstitial lung disease is the name for a large group of diseases that inflame or scar the lungs. The inflammation and ... is responsible for some types of interstitial lung diseases. Specific types include Black lung disease among coal ...

Identifying Future Disease Hot Spots: Infectious Disease Vulnerability Index.

PubMed

Moore, Melinda; Gelfeld, Bill; Okunogbe, Adeyemi; Paul, Christopher

2017-06-01

Recent high-profile outbreaks, such as Ebola and Zika, have illustrated the transnational nature of infectious diseases. Countries that are most vulnerable to such outbreaks might be higher priorities for technical support. RAND created the Infectious Disease Vulnerability Index to help U.S. government and international agencies identify these countries and thereby inform programming to preemptively help mitigate the spread and effects of potential transnational outbreaks. The authors employed a rigorous methodology to identify the countries most vulnerable to disease outbreaks. They conducted a comprehensive review of relevant literature to identify factors influencing infectious disease vulnerability. Using widely available data, the authors created an index for identifying potentially vulnerable countries and then ranked countries by overall vulnerability score. Policymakers should focus on the 25 most-vulnerable countries with an eye toward a potential "disease belt" in the Sahel region of Africa. The infectious disease vulnerability scores for several countries were better than what would have been predicted on the basis of economic status alone. This suggests that low-income countries can overcome economic challenges and become more resilient to public health challenges, such as infectious disease outbreaks.

Disease risk curves.

PubMed

Hughes, G; Burnett, F J; Havis, N D

2013-11-01

Disease risk curves are simple graphical relationships between the probability of need for treatment and evidence related to risk factors. In the context of the present article, our focus is on factors related to the occurrence of disease in crops. Risk is the probability of adverse consequences; specifically in the present context it denotes the chance that disease will reach a threshold level at which crop protection measures can be justified. This article describes disease risk curves that arise when risk is modeled as a function of more than one risk factor, and when risk is modeled as a function of a single factor (specifically the level of disease at an early disease assessment). In both cases, disease risk curves serve as calibration curves that allow the accumulated evidence related to risk to be expressed on a probability scale. When risk is modeled as a function of the level of disease at an early disease assessment, the resulting disease risk curve provides a crop loss assessment model in which the downside is denominated in terms of risk rather than in terms of yield loss.

Celiac Disease: Diagnosis.

PubMed

Byrne, Greg; Feighery, Conleth F

2015-01-01

Historically the diagnosis of celiac disease has relied upon clinical, serological, and histological evidence. In recent years the use of sensitive serological methods has meant an increase in the diagnosis of celiac disease. The heterogeneous nature of the disorder presents a challenge in the study and diagnosis of the disease with patients varying from subclinical or latent disease to patients with overt symptoms. Furthermore the related gluten-sensitive disease dermatitis herpetiformis, while distinct in some respects, shares clinical and serological features with celiac disease. Here we summarize current best practice for the diagnosis of celiac disease and briefly discuss newer approaches. The advent of next-generation assays for diagnosis and newer clinical protocols may result in more sensitive screening and ultimately the possible replacement of the intestinal biopsy as the gold standard for celiac disease diagnosis.

Wireless Monitoring for Patients with Cardiovascular Diseases and Parkinson's Disease.

PubMed

Kefaliakos, Antonios; Pliakos, Ioannis; Charalampidou, Martha; Diomidous, Marianna

2016-01-01

The use of applications for mobile devices and wireless sensors is common for the sector of telemedicine. Recently various studies and systems were developed in order to help patients suffering from severe diseases such as cardiovascular diseases and Parkinson's disease. They present a challenge for the sector because such systems demand the flow of accurate data in real time and the use of specialized sensors. In this review will be presented some very interesting applications developed for patients with cardiovascular diseases and Parkinson's disease.

[Finnish disease heritage].

PubMed

Kestilä, Marjo; Ikonen, Elina; Lehesjoki, Anna-Elina

2010-01-01

The Finnish disease heritage refers to rare hereditary diseases that occur in the Finnish population in a relatively larger proportion than in other populations. The genes underlying all of the 36 diseases of the disease heritage have been identified. Together with her group and collaborators, Leena Palotie identified 15 of these, and this review includes the description of some of these achievements. As a result of the so-called founder effect, one predominant mutation underlying these diseases occurs in our population, facilitating the diagnostics of these diseases in our country.

Influence of cerebrovascular disease on brain networks in prodromal and clinical Alzheimer's disease.

PubMed

Chong, Joanna Su Xian; Liu, Siwei; Loke, Yng Miin; Hilal, Saima; Ikram, Mohammad Kamran; Xu, Xin; Tan, Boon Yeow; Venketasubramanian, Narayanaswamy; Chen, Christopher Li-Hsian; Zhou, Juan

2017-11-01

Network-sensitive neuroimaging methods have been used to characterize large-scale brain network degeneration in Alzheimer's disease and its prodrome. However, few studies have investigated the combined effect of Alzheimer's disease and cerebrovascular disease on brain network degeneration. Our study sought to examine the intrinsic functional connectivity and structural covariance network changes in 235 prodromal and clinical Alzheimer's disease patients with and without cerebrovascular disease. We focused particularly on two higher-order cognitive networks-the default mode network and the executive control network. We found divergent functional connectivity and structural covariance patterns in Alzheimer's disease patients with and without cerebrovascular disease. Alzheimer's disease patients without cerebrovascular disease, but not Alzheimer's disease patients with cerebrovascular disease, showed reductions in posterior default mode network functional connectivity. By comparison, while both groups exhibited parietal reductions in executive control network functional connectivity, only Alzheimer's disease patients with cerebrovascular disease showed increases in frontal executive control network connectivity. Importantly, these distinct executive control network changes were recapitulated in prodromal Alzheimer's disease patients with and without cerebrovascular disease. Across Alzheimer's disease patients with and without cerebrovascular disease, higher default mode network functional connectivity z-scores correlated with greater hippocampal volumes while higher executive control network functional connectivity z-scores correlated with greater white matter changes. In parallel, only Alzheimer's disease patients without cerebrovascular disease showed increased default mode network structural covariance, while only Alzheimer's disease patients with cerebrovascular disease showed increased executive control network structural covariance compared to controls. Our

Genotator: a disease-agnostic tool for genetic annotation of disease.

PubMed

Wall, Dennis P; Pivovarov, Rimma; Tong, Mark; Jung, Jae-Yoon; Fusaro, Vincent A; DeLuca, Todd F; Tonellato, Peter J

2010-10-29

Disease-specific genetic information has been increasing at rapid rates as a consequence of recent improvements and massive cost reductions in sequencing technologies. Numerous systems designed to capture and organize this mounting sea of genetic data have emerged, but these resources differ dramatically in their disease coverage and genetic depth. With few exceptions, researchers must manually search a variety of sites to assemble a complete set of genetic evidence for a particular disease of interest, a process that is both time-consuming and error-prone. We designed a real-time aggregation tool that provides both comprehensive coverage and reliable gene-to-disease rankings for any disease. Our tool, called Genotator, automatically integrates data from 11 externally accessible clinical genetics resources and uses these data in a straightforward formula to rank genes in order of disease relevance. We tested the accuracy of coverage of Genotator in three separate diseases for which there exist specialty curated databases, Autism Spectrum Disorder, Parkinson's Disease, and Alzheimer Disease. Genotator is freely available at http://genotator.hms.harvard.edu. Genotator demonstrated that most of the 11 selected databases contain unique information about the genetic composition of disease, with 2514 genes found in only one of the 11 databases. These findings confirm that the integration of these databases provides a more complete picture than would be possible from any one database alone. Genotator successfully identified at least 75% of the top ranked genes for all three of our use cases, including a 90% concordance with the top 40 ranked candidates for Alzheimer Disease. As a meta-query engine, Genotator provides high coverage of both historical genetic research as well as recent advances in the genetic understanding of specific diseases. As such, Genotator provides a real-time aggregation of ranked data that remains current with the pace of research in the disease

Randomized controlled trials for Alzheimer disease and Parkinson disease.

PubMed

Lauretani, Fulvio; Ticinesi, Andrea; Meschi, Tiziana; Teresi, Giulio; Ceda, Gian Paolo; Maggio, Marcello

2016-06-01

The continuous increase in elderly and oldest-old population, and subsequent rise in prevalence of chronic neurological diseases like Alzheimer's disease (AD) and Parkinson's disease (PD), are a major challenge for healthcare systems. These two conditions are the most prevalent neurodegenerative diseases in older persons and physicians should engage treatment for these patients. In this field, Randomized Clinical Trials (RCTs) specifically focused on elderly populations are still lacking. The aim of this study was to identify RCTs conducted among AD and PD and to examine the difference between mean age of enrollment and incidence of these two neurodegenerative diseases. We found that the scenario is different between PD and AD. In particular, the enrollment for PD trials seems to include younger persons than AD, although the incidence of both diseases is similar and highest after 80 years old. The consequence of these results could influence conclusive guidelines of treatment in older parkinsonian patients.

Disease management improves end-stage renal disease outcomes.

PubMed

Sands, Jeffrey J

2006-01-01

Renal disease management organizations have reported achieving significant decreases in mortality and hospitalization in conjunction with cost savings, improved patient satisfaction and quality of life. Disease management organizations strive to fill existing gaps in care delivery through the standardized use of risk assessment, predictive modeling, evidence-based guidelines, and process and outcomes measurement. Patient self-management education and the provision of individual nurse care managers are also key program components. As we more fully measure clinical outcomes and total healthcare costs, including payments from all insurance and government entities, pharmacy costs and out of pocket expenditures, the full implications of disease management can be better defined. The results of this analysis will have a profound influence on United States healthcare policy. At present current data suggest that the promise of disease management, improved care at reduced cost, can and is being realized in end-stage renal disease. Copyright 2006 S. Karger AG, Basel.

Chronic obstructive pulmonary disease and chronic heart failure: two muscle diseases?

PubMed

Troosters, Thierry; Gosselink, Rik; Decramer, Marc

2004-01-01

Chronic obstructive pulmonary disease and congestive heart failure are two increasingly prevalent chronic diseases. Although care for these patients often is provided by different clinical teams, both disease conditions have much in common. In recent decades, more knowledge about the systemic impact of both diseases has become available, highlighting remarkable similarities in terms of prognostic factors and disease management. Rehabilitation programs deal with the systemic consequences of both diseases. Although clinical research also is conducted by various researchers investigating chronic obstructive pulmonary disease and chronic heart failure, it is worthwhile to compare the progress in relation to these two diseases over recent decades. Such comparison, the purpose of the current review, may help clinicians and scientists to learn about progress made in different, yet related, fields. The current review focuses on the similarities observed in the clinical impact of muscle weakness, the mechanisms of muscle dysfunction, the strategies to improve muscle function, and the effects of exercise training on chronic obstructive pulmonary disease and chronic heart failure.

Two adolescent patients with coexistent Graves' disease and Moyamoya disease in Korea.

PubMed

Cheon, Chong Kun; Kim, Su Yung; Yoo, Jae-Ho

2014-06-01

Moyamoya disease is a cerebrovascular condition that results in the narrowing of the vessels of the circle of Willis and collateral vessel formation at the base of the brain. Although relationships between Graves' disease and cerebrovascular accidents in Moyamoya disease are obscure, the coexistence of the two diseases is noteworthy. Moyamoya disease has been rarely reported in adolescent patients with thyrotoxicosis. Recently, we encountered two adolescent Korean patients with Moyamoya disease associated with Graves' disease who presented with episodic right-sided hemiparesis and syncope. These two girls who had Graves' disease had no history of other diseases or head trauma. A thyroid function test revealed a euthyroid state and a high thyroid-stimulating hormone (TSH) receptor antibody titer at that time. The patients were diagnosed with Moyamoya disease based on brain magnetic resonance angiography and cerebral four-vessel angiography. The patients underwent cranial revascularization by encephalo-duroarterio-synangiosis as soon as a diagnosis was made, which resulted in successful symptom resolution. They fared well and had no additional neurological symptoms as of their last follow-up visits. Here, we report these two cases of confirmed Moyamoya disease complicated by Graves' disease with a review of the literature, and discuss the possible association between the two diseases. To our knowledge, this is the first report in South Korea on Moyamoya disease associated with Graves' disease in adolescents with a euthyroid.

Degos' disease: a distinctive pattern of disease, chiefly of lupus erythematosus, and not a specific disease per se.

PubMed

Ball, Elizabeth; Newburger, Amy; Ackerman, A Bernard

2003-08-01

Degos' disease, known confusingly as malignant strophic papularis, is an uncommon condition of unknown cause characterized by distinctive infarctive lesions in the skin, gastrointestinal tract, and central nervous system; the lesions at the two latter sites often result in death. We deem Degos' disease to be analogous to lupus erythematosus in the sense that each is fundamentally a systemic pathologic process involving several organs, among them the skin, but, moreover, we regard Degos' disease, in most instances, to be an actual manifestation of lupus erythematosus. Histopathologically, the findings in sections of tissue of skin lesions of Degos' disease are indistinguishable from those of one expression of cutaneous lupus erythematosus; immunopathologically, some patients with morphologic findings stereotypical of Degos' disease display signs characteristic of lupus erythematosus. For these reasons, we consider Degos' disease to be a distinctive pattern of disease, rather than a specific disease per se, just as are erythema multiforme, erythema nodosum, leukocytoclastic vasculitis, Sweet's syndrome, and pyoderma gangrenosum, to name but five of scores of them. The singular pattern that is designated Degos' disease usually is an expression of lupus erythematosus, but, episodically, of conditions like dermatomyositis and rheumatoid arthritis.

Disease control operations

USGS Publications Warehouse

Friend, M.; Franson, J.C.

1999-01-01

Individual disease outbreaks have killed many thousands of animals on numerous occasions. Tens of thousands of migratory birds have died in single die-offs with as many as 1,000 birds succumbing in 1 day. The ability to successfully combat such explosive situations is highly dependent on the readiness of field personnel to deal with them. Because many disease agents can spread through wildlife populations very quickly, advance preparation is essential for preventing infected animals from spreading disease to additional species and locations. Carefully thought-out disease contingency plans should be developed as practical working documents for field personnel and updated as necessary. Well-designed plans can prove invaluable in minimizing wildlife losses and the costs associated with disease control activities.Although requirements for disease control operations vary and must be tailored to each situation, all disease contingency planning involves general concepts and basic biological information. This chapter, which is intended to be a practical guide, identifies the major activities and needs of disease control operations, and relates them to disease contingency planning.

Periodontal disease and anemias associated with Crohn's disease. A case report.

PubMed

Nagpal, Swati; Acharya, Anirudh B; Thakur, Srinath L

2012-03-01

Crohn's disease (CD) is an inflammatory bowel disease with oral findings, including periodontal manifestations. Anemias, such as iron deficiency and anemia of chronic disease (ACD), are the most common hematologic complications of CD. Periodontitis has systemic effects, and may tend toward anemia, which can be explained by depressed erythropoiesis. In the report presented here, the authors review a case of Crohn's disease diagnosed 10 years previous to the patient presenting with a changing anemic profile and periodontal disease. A discussion of patient and disease management is included.

Is the disease course predictable in inflammatory bowel diseases?

PubMed Central

Lakatos, Peter Laszlo; Kiss, Lajos S

2010-01-01

During the course of the disease, most patients with Crohn’s disease (CD) may eventually develop a stricturing or a perforating complication, and a significant number of patients with both CD and ulcerative colitis will undergo surgery. In recent years, research has focused on the determination of factors important in the prediction of disease course in inflammatory bowel diseases to improve stratification of patients, identify individual patient profiles, including clinical, laboratory and molecular markers, which hopefully will allow physicians to choose the most appropriate management in terms of therapy and intensity of follow-up. This review summarizes the available evidence on clinical, endoscopic variables and biomarkers in the prediction of short and long-term outcome in patients with inflammatory bowel diseases. PMID:20518079

Identifying patterns of immune-related disease: use in disease prevention and management.

PubMed

Dietert, Rodney R; Zelikoff, Judith T

2010-05-01

Childhood susceptibility to diseases linked with immune dysfunction affects over a quarter of the pediatric population in some countries. While this alone is a significant health issue, the actual impact of immune-related diseases extends over a lifetime and involves additional secondary conditions. Some comorbidities are well known (e.g., allergic rhinitis and asthma). However, no systematic approach has been used to identify life-long patterns of immune-based disease where the primary condition arises in childhood. Such information is useful for both disease prevention and treatment approaches. Recent primary research papers as well as review articles were obtained from PubMed, Chem Abstracts, Biosis and from the personal files of the authors. Search words used were: the diseases and conditions shown Figs. 1 and 2 in conjunction with comorbid, comorbidities, pediatric, childhood, adult, immune, immune dysfunction, allergy, autoimmune, inflammatory, infectious, health risks, environment, risk factors. Childhood diseases such as asthma, type-1 diabetes, inflammatory bowel disease, respiratory infections /rhinitis, recurrent otitis media, pediatric celiac, juvenile arthritis and Kawasaki disease are examples of significant childhood health problems where immune dysfunction plays a significant role. Each of these pediatric diseases is associated with increased risk of several secondary conditions, many of which appear only later in life. To illustrate, four prototypes of immune-related disease patterns (i.e., allergy, autoimmunity, inflammation and infectious disease) are shown as tools for: 1) enhanced disease prevention; 2) improved management of immune-based pediatric diseases; and 3) better recognition of underlying pediatric immune dysfunction. Identification of immune-related disease patterns beginning in childhood provides the framework for examining the underlying immune dysfunctions that can contribute to additional diseases in later life. Many pediatric

Infectious diseases and global warming: Tracking disease incidence rates globally

DOE Office of Scientific and Technical Information (OSTI.GOV)

Low, N.C.

1995-09-01

Given the increasing importance of impact of global warming on public health, there is no global database system to monitor infectious disease and disease in general, and to which global data of climate change and environmental factors, such as temperature, greenhouse gases, and human activities, e.g., coastal development, deforestation, can be calibrated, investigated and correlated. The author proposes the diseases incidence rates be adopted as the basic global measure of morbidity of infectious diseases. The importance of a correctly chosen measure of morbidity of disease is presented. The importance of choosing disease incidence rates as the measure of morbidity andmore » the mathematical foundation of which are discussed. The author further proposes the establishment of a global database system to track the incidence rates of infectious diseases. Only such a global system can be used to calibrate and correlate other globally tracked climatic, greenhouse gases and environmental data. The infrastructure and data sources for building such a global database is discussed.« less

Chronic granulomatous disease mimicking early-onset Crohn's disease with cutaneous manifestations.

PubMed

Barbato, Maria; Ragusa, Giovanni; Civitelli, Fortunata; Marcheggiano, Adriana; Di Nardo, Giovanni; Iacobini, Metello; Melengu, Taulant; Cucchiara, Salvatore; Duse, Marzia

2014-06-20

Chronic granulomatous disease is a rare inherited disorder of the innate immune system. In patients with a clinical history of recurrent or persistent infections, especially infections caused by uncommon species, chronic granulomatous disease should be considered. We report the case of a 5-year-old boy with a presumptive diagnosis of Crohn's disease with extraintestinal manifestations. Chronic granulomatous disease was suspected in this case after Serratia marcescens was isolated from a skin ulcer culture. Granulomas were confirmed on histology and chronic granulomatous disease was diagnosed. This case emphasizes the importance of high clinical suspicion of an alternative diagnosis of immune deficiency in patients with presumed inflammatory bowel disease and opportunistic infections, especially when disease occurs in early life.

[Celiac disease - disease of children and adults: symptoms, disease complications, risk groups and comorbidities].

PubMed

Majsiak, Emilia; Cichoż-Lach, Halina; Gubska, Olena; Cukrowska, Bożena

2018-01-23

About 1% of human population suffers from celiac disease (CD) and it is one of the most commonly diagnosed autoimmune disorders. Until recently it was believed that CD affects mainly children, but as the newest studies show, up to 60% recently diagnosed patients are adults, often over the age of 60. CD's medical signs are nonspecific. Atypical course of the disease with extraintestinal symptoms is being increasingly observed. The disease may also be asymptomatic over many years. The studies show that the average diagnosis of CD takes more than 10 years since the first symptoms appear. Nonspecific medical signs cause undiagnosed patients suffering from CD to visit gastroenterologists, endocrinologists, allergists, gynaecologists and other medical specialists. However, most frequently general practitioners have the first encounter with patients suffering from CD, therefore they are able to recognize symptoms of the disease at the earliest and refer the patient to a gastroenterologist. Early diagnosis and beginning of the treatment reduce complications of untreated CD. The aim of this paper is to show general practitioners symptoms, disease complications, risk groups and comorbidities of CD.

Phenotype and Clinical Course of Inflammatory Bowel Disease with Co-Existent Celiac Disease.

PubMed

Tse, Chung Sang; Deepak, Parakkal; De La Fuente, Jaime; Bledsoe, Adam C; Larson, Joseph J; Murray, Joseph A; Papadakis, Konstantinos A

2018-05-07

Inflammatory bowel diseases, principally Crohn's disease and ulcerative colitis, and celiac disease are among the most common immune-mediated gastrointestinal diseases. We aim to elucidate the clinical course and outcomes of patients with concomitant inflammatory bowel disease and celiac disease, a unique population that remains scarcely studied to date. A retrospective matched case-control study of adults with coexistent inflammatory bowel disease and celiac disease was performed at a tertiary referral institution in North America. Logistic regression and Kaplan-Meier curves compared disease characteristics and clinical outcomes of the two groups. A total of 342 inflammatory bowel disease patients were included in this study, of which 114 had coexistent celiac disease and 228 did not. Patients with coexistent inflammatory bowel disease and celiac disease had higher rates of primary sclerosing cholangitis (19.3% vs 5.7%; odds ratio, 4.4; 95% confidence interval, 2.1-9.4; p<0.001), extensive ulcerative colitis (78.1% vs 59.0%; odds ratio, 2.8; 95% confidence interval 1.5-5.5, p=0.002), and family history of celiac disease (10.5% vs 3.5%; odds ratio 3.2; 95% confidence interval 1.3-8.2; p=0.01), compared to patients without concomitant celiac disease. Patients with inflammatory bowel disease with concomitant celiac disease have unique phenotypic features compared to non-celiac inflammatory bowel disease, with higher risks for colitis-related hospitalizations, extensive colitis, and primary sclerosing cholangitis. Increased recognition of coexistent IBD and celiac disease can prompt clinicians to investigate for concomitant disease sooner, particularly in patients with seemingly refractory disease.

Mast cells in airway diseases and interstitial lung disease.

PubMed

Cruse, Glenn; Bradding, Peter

2016-05-05

Mast cells are major effector cells of inflammation and there is strong evidence that mast cells play a significant role in asthma pathophysiology. There is also a growing body of evidence that mast cells contribute to other inflammatory and fibrotic lung diseases such as chronic obstructive pulmonary disease and idiopathic pulmonary fibrosis. This review discusses the role that mast cells play in airway diseases and highlights how mast cell microlocalisation within specific lung compartments and their cellular interactions are likely to be critical for their effector function in disease. Published by Elsevier B.V.

Salivary gland disease.

PubMed

Thomas, Bethan L; Brown, Jackie E; McGurk, Mark

2010-01-01

Salivary gland disease covers a wide range of pathological entities, including salivary gland-specific disease, as well as manifestations of systemic diseases. This chapter discusses the recent advances in managing obstructive salivary gland disease, the move from gland excision to gland preservation, the dilemmas in diagnosing and managing tumours of the salivary glands, and the international data collection to understand the aetiology and progression of Sjögren's disease. Copyright 2010 S. Karger AG, Basel.

Carcinoid heart disease.

PubMed

Bernheim, Alain M; Connolly, Heidi M; Hobday, Timothy J; Abel, Martin D; Pellikka, Patricia A

2007-01-01

Carcinoid heart disease is a rare form of valvular heart disease. The management of these patients is complex, as the systemic malignant disease and the cardiac involvement have to be considered at the same time. Progress in the treatment of patients with carcinoid disease has resulted in improved symptom control and survival. Development and progression of carcinoid heart disease are associated with increased morbidity and mortality. In patients with severe cardiac involvement and well-controlled systemic disease, cardiac surgery has been recognized as the only effective treatment option. Valve replacement surgery may not only be beneficial in terms of symptom relief, but may also contribute to the improved survival observed over the past 2 decades in patients with carcinoid heart disease. Early diagnosis and early surgical treatment in appropriately selected patients may provide the best results. In this article, we review the current literature regarding the biology, diagnosis, treatment, and prognosis of carcinoid heart disease.

Genome-wide Pleiotropy Between Parkinson Disease and Autoimmune Diseases.

PubMed

Witoelar, Aree; Jansen, Iris E; Wang, Yunpeng; Desikan, Rahul S; Gibbs, J Raphael; Blauwendraat, Cornelis; Thompson, Wesley K; Hernandez, Dena G; Djurovic, Srdjan; Schork, Andrew J; Bettella, Francesco; Ellinghaus, David; Franke, Andre; Lie, Benedicte A; McEvoy, Linda K; Karlsen, Tom H; Lesage, Suzanne; Morris, Huw R; Brice, Alexis; Wood, Nicholas W; Heutink, Peter; Hardy, John; Singleton, Andrew B; Dale, Anders M; Gasser, Thomas; Andreassen, Ole A; Sharma, Manu

2017-07-01

Recent genome-wide association studies (GWAS) and pathway analyses supported long-standing observations of an association between immune-mediated diseases and Parkinson disease (PD). The post-GWAS era provides an opportunity for cross-phenotype analyses between different complex phenotypes. To test the hypothesis that there are common genetic risk variants conveying risk of both PD and autoimmune diseases (ie, pleiotropy) and to identify new shared genetic variants and their pathways by applying a novel statistical framework in a genome-wide approach. Using the conjunction false discovery rate method, this study analyzed GWAS data from a selection of archetypal autoimmune diseases among 138 511 individuals of European ancestry and systemically investigated pleiotropy between PD and type 1 diabetes, Crohn disease, ulcerative colitis, rheumatoid arthritis, celiac disease, psoriasis, and multiple sclerosis. NeuroX data (6927 PD cases and 6108 controls) were used for replication. The study investigated the biological correlation between the top loci through protein-protein interaction and changes in the gene expression and methylation levels. The dates of the analysis were June 10, 2015, to March 4, 2017. The primary outcome was a list of novel loci and their pathways involved in PD and autoimmune diseases. Genome-wide conjunctional analysis identified 17 novel loci at false discovery rate less than 0.05 with overlap between PD and autoimmune diseases, including known PD loci adjacent to GAK, HLA-DRB5, LRRK2, and MAPT for rheumatoid arthritis, ulcerative colitis and Crohn disease. Replication confirmed the involvement of HLA, LRRK2, MAPT, TRIM10, and SETD1A in PD. Among the novel genes discovered, WNT3, KANSL1, CRHR1, BOLA2, and GUCY1A3 are within a protein-protein interaction network with known PD genes. A subset of novel loci was significantly associated with changes in methylation or expression levels of adjacent genes. The study findings provide novel mechanistic

Diseases

Treesearch

Thomas E. Hinds

1985-01-01

Although many diseases attack aspen, relatively few kill or seriously injure living trees. The common leaf diseases, in general, are widely distributed throughout the range of aspen, whereas there are subtle differences in distribution between the important decay fungi, and apparently entirely different areas of distribution of major cankercausing organisms. However,...

Acute Chagas Disease: New Global Challenges for an Old Neglected Disease

PubMed Central

Andrade, Daniela V.; Gollob, Kenneth J.; Dutra, Walderez O.

2014-01-01

Chagas disease is caused by infection with the protozoan Trypanosoma cruzi, and although over 100 years have passed since the discovery of Chagas disease, it still presents an increasing problem for global public health. A plethora of information concerning the chronic phase of human Chagas disease, particularly the severe cardiac form, is available in the literature. However, information concerning events during the acute phase of the disease is scarce. In this review, we will discuss (1) the current status of acute Chagas disease cases globally, (2) the immunological findings related to the acute phase and their possible influence in disease outcome, and (3) reactivation of Chagas disease in immunocompromised individuals, a key point for transplantation and HIV infection management. PMID:25077613

The Role of Reactive Oxygen Species in the Pathogenesis of Alzheimer's Disease, Parkinson's Disease, and Huntington's Disease: A Mini Review

PubMed Central

Abiramasundari, Rajagopal Selladurai; Essa, Musthafa Mohamed; Akbar, Mohammed D.

2016-01-01

Neurodegenerative diseases affect not only the life quality of aging populations, but also their life spans. All forms of neurodegenerative diseases have a massive impact on the elderly. The major threat of these brain diseases includes progressive loss of memory, Alzheimer's disease (AD), impairments in the movement, Parkinson's disease (PD), and the inability to walk, talk, and think, Huntington's disease (HD). Oxidative stress and mitochondrial dysfunction are highlighted as a central feature of brain degenerative diseases. Oxidative stress, a condition that occurs due to imbalance in oxidant and antioxidant status, has been known to play a vital role in the pathophysiology of neurodegenerative diseases including AD, PD, and HD. A large number of studies have utilized oxidative stress biomarkers to investigate the severity of these neurodegenerative diseases and medications are available, but these only treat the symptoms. In traditional medicine, a large number of medicinal plants have been used to treat the symptoms of these neurodegenerative diseases. Extensive studies scientifically validated the beneficial effect of natural products against neurodegenerative diseases using suitable animal models. This short review focuses the role of oxidative stress in the pathogenesis of AD, PD, and HD and the protective efficacy of natural products against these diseases. PMID:28116038

Chronic Disease and Childhood Development: Kidney Disease and Transplantation.

ERIC Educational Resources Information Center

Klein, Susan D.; Simmons, Roberta G.

As part of a larger study of transplantation and chronic disease and the family, 124 children (10-18 years old) who were chronically ill with kidney disease (n=72) or were a year or more post-transplant (n=52) were included in a study focusing on the effects of chronic kidney disease and transplantation on children's psychosocial development. Ss…

Transgenic mouse models of Parkinson's disease and Huntington's disease.

PubMed

Skaper, Stephen D; Giusti, Pietro

2010-08-01

Parkinson's disease (PD) is a chronic progressive neurodegenerative movement disorder characterized by a profound and selective loss of nigrostriatal dopaminergic neurons. Another neurodegenerative disorder, Huntington's disease (HD), is characterized by striking movement abnormalities and the loss of medium-sized spiny neurons in the striatum. Current medications only provide symptomatic relief and fail to halt the death of neurons in these disorders. A major hurdle in the development of neuroprotective therapies is due to limited understanding of disease processes leading to the death of neurons. The etiology of dopaminergic neuronal demise in PD is elusive, but a combination of genetic and environmental factors seems to play a critical role. The majority of PD cases are sporadic; however, the discovery of genes linked to rare familial forms of disease and studies from experimental animal models has provided crucial insights into molecular mechanisms of disease pathogenesis. HD, on the other hand, is one of the few neurodegenerative diseases with a known genetic cause, namely an expanded CAG repeat mutation, extending a polyglutamine tract in the huntingtin protein. One of the most important advances in HD research has been the generation of various mouse models that enable the exploration of early pathological, molecular, and cellular abnormalities produced by the mutation. In addition, these models for both HD and PD have made possible the testing of different pharmacological approaches to delay the onset or slow the progression of disease. This article will provide an overview of the genetics underlying PD and HD, the animal models developed, and their potential utility to the study of disease pathophysiology.

[Cardiovascular disease and systemic inflammatory diseases].

PubMed

Cuende, José I; Pérez de Diego, Ignacio J; Godoy, Diego

2016-01-01

More than a century of research has shown that atherosclerosis is an inflammatory process more than an infiltrative or thrombogenic process. It has been demonstrated epidemiologically and by imaging techniques, that systemic inflammatory diseases (in particular, but not exclusively, rheumatoid arthritis and systemic lupus erythematosus) increase the atherosclerotic process, and has a demonstrated pathophysiological basis. Furthermore, treatments to control inflammatory diseases can modify the course of the atherosclerotic process. Although there are no specific scales for assessing cardiovascular risk in patients with these diseases, cardiovascular risk is high. A number of specific risk scales are being developed, that take into account specific factors such as the degree of inflammatory activity. Copyright © 2015 Sociedad Española de Arteriosclerosis. Published by Elsevier España. All rights reserved.

Legionnaires' disease.

PubMed

Cunha, Burke A; Burillo, Almudena; Bouza, Emilio

2016-01-23

Since first identified in early 1977, bacteria of the genus Legionella are recognised as a common cause of community-acquired pneumonia and a rare cause of hospital-acquired pneumonia. Legionella bacteria multisystem manifestations mainly affect susceptible patients as a result of age, underlying debilitating conditions, or immunosuppression. Water is the major natural reservoir for Legionella, and the pathogen is found in many different natural and artificial aquatic environments such as cooling towers or water systems in buildings, including hospitals. The term given to the severe pneumonia and systemic infection caused by Legionella bacteria is Legionnaires' disease. Over time, the prevalence of legionellosis or Legionnaires' disease has risen, which might indicate a greater awareness and reporting of the disease. Advances in microbiology have led to a better understanding of the ecological niches and pathogenesis of the condition. Legionnaires' disease is not always suspected because of its non-specific symptoms, and the diagnostic tests routinely available do not offer the desired sensitivity. However, effective antibiotics are available. Disease notification systems provide the basis for initiating investigations and limiting the scale and recurrence of outbreaks. This report reviews our current understanding of this disease. Copyright © 2016 Elsevier Ltd. All rights reserved.

Disease mongering.

PubMed

Shankar, P R; Subish, P

2007-04-01

Convincing healthy people that they are sick and require medicines can enormously expand the market. Disease mongering can turn ordinary ailments like baldness into medical problems, consider risk factors such as hypertension and osteoporosis as diseases and frame prevalence estimates to increase potential markets. In Asia, conditions like erectile dysfunction, male pattern baldness, attention deficit hyperactivity disorder and irritable bowel syndrome, and the drugs to treat them, are widely promoted. Fairness creams and traditional medicines are also widely used. The cost of disease mongering to the individual and the community is expected to be high. Some authors have argued that medicalisation of illnesses may not be a problem and the real problem may be the lack of medicines. Doctors will play a key role in combating disease mongering. Disentanglement from the pharmaceutical industry and development of a capacity for critical analysis are required. Educating patients and empowering them to make decisions are important. Several initiatives have been undertaken to combat disease mongering. Initiatives at the level of the patient and the physician are especially important. Studies on the extent and knowledge of disease mongering among doctors and medical students, and their economic and social consequences are urgently required.

Involvement of Gaucher Disease Mutations in Parkinson Disease.

PubMed

Vilageliu, Lluisa; Grinberg, Daniel

2017-01-01

Gaucher disease is an autosomal recessive lysosomal storage disorder, caused by mutations in the GBA gene. The frequency of Gaucher disease patients and heterozygote carriers that developed Parkinson disease has been found to be above that of the control population. This fact suggests that mutations in the GBA gene can be involved in Parkison's etiology. Analysis of large cohorts of patients with Parkinson disease has shown that there are significantly more cases bearing GBA mutations than those found among healthy individuals. Functional studies have proven an interaction between α-synuclein and GBA, the levels of which presented an inverse correlation. Mutant GBA proteins cause increases in α-synuclein levels, while an inhibition of GBA by α-synuclein has been also demonstrated. Saposin C, a coactivator of GBA, has been shown to protect GBA from this inhibition. Among the GBA variants associated with Parkinson disease, E326K seems to be one of the most prevalent. Interestingly, it is involved in Gaucher disease only when it forms part of a double-mutant allele, usually with the L444P mutation. Structural analyses have revealed that both residues (E326 and L444) interact with Saposin C and, probably, also with α-synuclein. This could explain the antagonistic role of these two proteins in relation to GBA. Copyright© Bentham Science Publishers; For any queries, please email at epub@benthamscience.org.

Degenerative Nerve Diseases

MedlinePlus

... may include toxins, chemicals, and viruses. Sometimes the cause is not known. Degenerative nerve diseases include Alzheimer's disease Amyotrophic lateral sclerosis Friedreich's ataxia Huntington's disease ...

[Characteristics of extracranial malignant germ cell tumours in two age groups of children (0-10 and 10-18 years). Multicentre experiences].

PubMed

Drozyńska, Elzbieta; Połczyńska, Katarzyna; Popadiuk, Stefan; Niedzwiecki, Maciej; Wiśniewski, Jakub; Balcerska, Anna; Izycka-Swieszewska, Ewa; Bilska, Katarzyna; Balwierz, Walentyna; Chełmecka, Lilianna; Chybicka, Alicja; Dudeńko, Izabella; Karolczyk, Grazyna; Kowalczyk, Jerzy; Krawczuk-Rybak, Maryna; Kurylak, Andrzej; Leszczyńska, Elzbieta; Matysiak, Michał; Młynarski, Wojciech; Pobudejska, Aneta; Sobol, Grazyna; Sońta-Jakimczyk, Danuta; Szajdak, Katarzyna; Tredowska-Skoczeń, Dorota; Szmyd, Krzysztof; Trelińska, Joanna; Urasiński, Tomasz; Wachowiak, Jacek; Wieczorek, Maria; Wiśniewska-Slusarz, Hanna; Woźniak, Sebastian; Woźniak, Wojciech; Wysocki, Mariusz

2011-01-01

In order to assess if any differences exist in children germ cell tumours depending on age, we compared some features of germ cell tumours in two age groups:younger than 10 and between 11 and 18 years. Data of 146 patients with germ cell tumours treated in 15 Polish paediatric oncology departments between 1995 and 2005 were evaluated. They were divided into two groups: 76 children 0-10 years old (group I) and 70 patients 11-18 years old (group II). Tumour morphology, sex of patients, primary tumour and metastases localization, disease stage, biochemical markers, treatment response, disease relapse and long survival were analyzed. Every patient was treated according to the TGM 95 protocol. In group 1, 67 tumours were assessed histologically. 64%t tumours had homogenous structure with yolk sac tumour in predominance and 36% were mixed. Yolk sac tumour (YST) or teratoma as components of mixed tumours were the most commonly found. In older group 64 tumours were examined, 41% were homogenous, and seminoma/dysgerminoma predominated. In 59% mixed tumours the most common components were YST embryonal carcinoma and teratoma. The most common primary site in group I was the sacrococcygeal region while in group II - the gonads. Disseminated disease was recognized mostly in older children. Among two evaluated serum markers, AFP was increased mostly in younger patients (76% vs 44%), and 3HCG in older group (40% vs 9%). Treatment response was comparable in both groups. Two relapses were observed in each group. Poor outcome was noted in 17/140 analyzed patients: 9 (12%) in group I and 8 (11%) in group II. In 12 of patients with poor outcome the cause of death was progression and in 5 of them - treatment complications. 1. Germ cell tumours in younger and older children differ in histology, primary localization and serum level of biochemical markers. 2. In older patients germ cell tumours are recognized more frequently in advanced clinical stages. 3. Treatment response was

A Disease or Not a Disease? Aging As a Pathology.

PubMed

Gladyshev, Timothy V; Gladyshev, Vadim N

2016-12-01

The debate on the relationship between aging and disease is centered on whether aging is a normal/natural/physiological process or it represents a pathology. Considering this relationship from medical, molecular, social, and historical perspectives, we argue that aging is neither a disease, nor a non-disease. Instead, it combines all age-related diseases and their preclinical forms, in addition to other pathological changes. Copyright © 2016 Elsevier Ltd. All rights reserved.

Gene-Disease Network Analysis Reveals Functional Modules in Mendelian, Complex and Environmental Diseases

PubMed Central

Bauer-Mehren, Anna; Bundschus, Markus; Rautschka, Michael; Mayer, Miguel A.; Sanz, Ferran; Furlong, Laura I.

2011-01-01

Background Scientists have been trying to understand the molecular mechanisms of diseases to design preventive and therapeutic strategies for a long time. For some diseases, it has become evident that it is not enough to obtain a catalogue of the disease-related genes but to uncover how disruptions of molecular networks in the cell give rise to disease phenotypes. Moreover, with the unprecedented wealth of information available, even obtaining such catalogue is extremely difficult. Principal Findings We developed a comprehensive gene-disease association database by integrating associations from several sources that cover different biomedical aspects of diseases. In particular, we focus on the current knowledge of human genetic diseases including mendelian, complex and environmental diseases. To assess the concept of modularity of human diseases, we performed a systematic study of the emergent properties of human gene-disease networks by means of network topology and functional annotation analysis. The results indicate a highly shared genetic origin of human diseases and show that for most diseases, including mendelian, complex and environmental diseases, functional modules exist. Moreover, a core set of biological pathways is found to be associated with most human diseases. We obtained similar results when studying clusters of diseases, suggesting that related diseases might arise due to dysfunction of common biological processes in the cell. Conclusions For the first time, we include mendelian, complex and environmental diseases in an integrated gene-disease association database and show that the concept of modularity applies for all of them. We furthermore provide a functional analysis of disease-related modules providing important new biological insights, which might not be discovered when considering each of the gene-disease association repositories independently. Hence, we present a suitable framework for the study of how genetic and environmental factors

Gene-disease network analysis reveals functional modules in mendelian, complex and environmental diseases.

PubMed

Bauer-Mehren, Anna; Bundschus, Markus; Rautschka, Michael; Mayer, Miguel A; Sanz, Ferran; Furlong, Laura I

2011-01-01

Scientists have been trying to understand the molecular mechanisms of diseases to design preventive and therapeutic strategies for a long time. For some diseases, it has become evident that it is not enough to obtain a catalogue of the disease-related genes but to uncover how disruptions of molecular networks in the cell give rise to disease phenotypes. Moreover, with the unprecedented wealth of information available, even obtaining such catalogue is extremely difficult. We developed a comprehensive gene-disease association database by integrating associations from several sources that cover different biomedical aspects of diseases. In particular, we focus on the current knowledge of human genetic diseases including mendelian, complex and environmental diseases. To assess the concept of modularity of human diseases, we performed a systematic study of the emergent properties of human gene-disease networks by means of network topology and functional annotation analysis. The results indicate a highly shared genetic origin of human diseases and show that for most diseases, including mendelian, complex and environmental diseases, functional modules exist. Moreover, a core set of biological pathways is found to be associated with most human diseases. We obtained similar results when studying clusters of diseases, suggesting that related diseases might arise due to dysfunction of common biological processes in the cell. For the first time, we include mendelian, complex and environmental diseases in an integrated gene-disease association database and show that the concept of modularity applies for all of them. We furthermore provide a functional analysis of disease-related modules providing important new biological insights, which might not be discovered when considering each of the gene-disease association repositories independently. Hence, we present a suitable framework for the study of how genetic and environmental factors, such as drugs, contribute to diseases. The

DOSim: an R package for similarity between diseases based on Disease Ontology.

PubMed

Li, Jiang; Gong, Binsheng; Chen, Xi; Liu, Tao; Wu, Chao; Zhang, Fan; Li, Chunquan; Li, Xiang; Rao, Shaoqi; Li, Xia

2011-06-29

The construction of the Disease Ontology (DO) has helped promote the investigation of diseases and disease risk factors. DO enables researchers to analyse disease similarity by adopting semantic similarity measures, and has expanded our understanding of the relationships between different diseases and to classify them. Simultaneously, similarities between genes can also be analysed by their associations with similar diseases. As a result, disease heterogeneity is better understood and insights into the molecular pathogenesis of similar diseases have been gained. However, bioinformatics tools that provide easy and straight forward ways to use DO to study disease and gene similarity simultaneously are required. We have developed an R-based software package (DOSim) to compute the similarity between diseases and to measure the similarity between human genes in terms of diseases. DOSim incorporates a DO-based enrichment analysis function that can be used to explore the disease feature of an independent gene set. A multilayered enrichment analysis (GO and KEGG annotation) annotation function that helps users explore the biological meaning implied in a newly detected gene module is also part of the DOSim package. We used the disease similarity application to demonstrate the relationship between 128 different DO cancer terms. The hierarchical clustering of these 128 different cancers showed modular characteristics. In another case study, we used the gene similarity application on 361 obesity-related genes. The results revealed the complex pathogenesis of obesity. In addition, the gene module detection and gene module multilayered annotation functions in DOSim when applied on these 361 obesity-related genes helped extend our understanding of the complex pathogenesis of obesity risk phenotypes and the heterogeneity of obesity-related diseases. DOSim can be used to detect disease-driven gene modules, and to annotate the modules for functions and pathways. The DOSim package

The integrated disease network.

PubMed

Sun, Kai; Buchan, Natalie; Larminie, Chris; Pržulj, Nataša

2014-11-01

The growing body of transcriptomic, proteomic, metabolomic and genomic data generated from disease states provides a great opportunity to improve our current understanding of the molecular mechanisms driving diseases and shared between diseases. The use of both clinical and molecular phenotypes will lead to better disease understanding and classification. In this study, we set out to gain novel insights into diseases and their relationships by utilising knowledge gained from system-level molecular data. We integrated different types of biological data including genome-wide association studies data, disease-chemical associations, biological pathways and Gene Ontology annotations into an Integrated Disease Network (IDN), a heterogeneous network where nodes are bio-entities and edges between nodes represent their associations. We also introduced a novel disease similarity measure to infer disease-disease associations from the IDN. Our predicted associations were systemically evaluated against the Medical Subject Heading classification and a statistical measure of disease co-occurrence in PubMed. The strong correlation between our predictions and co-occurrence associations indicated the ability of our approach to recover known disease associations. Furthermore, we presented a case study of Crohn's disease. We demonstrated that our approach not only identified well-established connections between Crohn's disease and other diseases, but also revealed new, interesting connections consistent with emerging literature. Our approach also enabled ready access to the knowledge supporting these new connections, making this a powerful approach for exploring connections between diseases.

Parkinson disease.

PubMed

Poewe, Werner; Seppi, Klaus; Tanner, Caroline M; Halliday, Glenda M; Brundin, Patrik; Volkmann, Jens; Schrag, Anette-Eleonore; Lang, Anthony E

2017-03-23

Parkinson disease is the second-most common neurodegenerative disorder that affects 2-3% of the population ≥65 years of age. Neuronal loss in the substantia nigra, which causes striatal dopamine deficiency, and intracellular inclusions containing aggregates of α-synuclein are the neuropathological hallmarks of Parkinson disease. Multiple other cell types throughout the central and peripheral autonomic nervous system are also involved, probably from early disease onwards. Although clinical diagnosis relies on the presence of bradykinesia and other cardinal motor features, Parkinson disease is associated with many non-motor symptoms that add to overall disability. The underlying molecular pathogenesis involves multiple pathways and mechanisms: α-synuclein proteostasis, mitochondrial function, oxidative stress, calcium homeostasis, axonal transport and neuroinflammation. Recent research into diagnostic biomarkers has taken advantage of neuroimaging in which several modalities, including PET, single-photon emission CT (SPECT) and novel MRI techniques, have been shown to aid early and differential diagnosis. Treatment of Parkinson disease is anchored on pharmacological substitution of striatal dopamine, in addition to non-dopaminergic approaches to address both motor and non-motor symptoms and deep brain stimulation for those developing intractable L-DOPA-related motor complications. Experimental therapies have tried to restore striatal dopamine by gene-based and cell-based approaches, and most recently, aggregation and cellular transport of α-synuclein have become therapeutic targets. One of the greatest current challenges is to identify markers for prodromal disease stages, which would allow novel disease-modifying therapies to be started earlier.

Gaucher disease

MedlinePlus

Glucocerebrosidase deficiency; Glucosylceramidase deficiency; Lysosomal storage disease - Gaucher ... 2016:chap 86. Krasnewich DM, Sidransky E. Lysosomal storage diseases. In: Goldman L, Schafer AI, eds. Goldman- ...

Induced Pluripotent Stem Cells for Disease Modeling and Drug Discovery in Neurodegenerative Diseases.

PubMed

Cao, Lei; Tan, Lan; Jiang, Teng; Zhu, Xi-Chen; Yu, Jin-Tai

2015-08-01

Although most neurodegenerative diseases have been closely related to aberrant accumulation of aggregation-prone proteins in neurons, understanding their pathogenesis remains incomplete, and there is no treatment to delay the onset or slow the progression of many neurodegenerative diseases. The availability of induced pluripotent stem cells (iPSCs) in recapitulating the phenotypes of several late-onset neurodegenerative diseases marks the new era in in vitro modeling. The iPSC collection represents a unique and well-characterized resource to elucidate disease mechanisms in these diseases and provides a novel human stem cell platform for screening new candidate therapeutics. Modeling human diseases using iPSCs has created novel opportunities for both mechanistic studies as well as for the discovery of new disease therapies. In this review, we introduce iPSC-based disease modeling in neurodegenerative diseases, such as Alzheimer's disease, Parkinson's disease, Huntington's disease, and amyotrophic lateral sclerosis. In addition, we discuss the implementation of iPSCs in drug discovery associated with some new techniques.

Rheumatic diseases and sexuality: Disease impact and self-management strategies.

PubMed

Helland, Ylva; Kjeken, Ingvild; Steen, Eldri; Kvien, Tore K; Hauge, Mona-Iren; Dagfinrud, Hanne

2011-05-01

To explore how intimate relationships and sexuality are influenced by rheumatic diseases and to describe self-management strategies used to manage disease consequences. To ensure that data were grounded in patients' language and experiences, individual and focus group interviews were conducted. Purposeful sampling was used to ensure variation in age, sex, disease duration, diagnosis, and marital status among the informants. Participants were men and women ages 18 years or older, were diagnosed with inflammatory rheumatic disease by a rheumatologist, and had a disease duration of ≥2 years. The mean age of the 23 participants was 44 years, the mean disease duration was 13.6 years, and the mean ± SD modified Health Assessment Questionnaire score was 1.58 ± 0.46. Four key themes summarized the main issues described by the informants: between disease and normality, relational aspects, disease-related sexual challenges, and self-management strategies. The results reveal that the disease constituted a disruption in life, requiring a new orientation of sexual identity and relationship. Participants' experiences of sexuality went beyond specific sexual activity, including aspects such as body image and relational issues, illustrating a multidimensional perception of sexuality. A large inter- and intrapersonal variety of impact and a wide range of management strategies were reported. This study shows that sexuality is a vital area of life for people living with arthritis. It is a source of physical pleasure and intimacy with their partner, but may cause anxiety and distress when affected by rheumatic disease. However, various self-management strategies are applied to enhance intimate relationships and sexual activity. Knowledge and openness concerning sexual issues need to be emphasized as part of the competence of health professionals and researchers. Copyright © 2011 by the American College of Rheumatology.

Intersection of Cardiovascular Disease and Kidney Disease: Atrial Fibrillation

PubMed Central

Bansal, Nisha; Hsu, Chi-yuan; Go, Alan S.

2014-01-01

Purpose of review Atrial fibrillation (AF) is the most common sustained arrhythmia in the patients with kidney disease. The purpose of this review is to describe the burden of AF in patients with chronic kidney disease (CKD) and end-stage renal disease (ESRD), postulate possible mechanisms to explain this burden of disease, understand the clinical consequences of AF and review the treatment options for AF specific to patients with kidney disease. Recent findings Recent literature has revealed that the clinical multi-organ impact of AF in patients with CKD and ESRD is substantial. Although novel oral anticoagulants to treat AF and prevent associated complications have been tested in large trials in the general population, there is a paucity of data on the efficacy and safety of these agents in patients with advanced CKD and ESRD. Summary AF is a significant comorbidity in patients with CKD and ESRD with important prognostic implications. More research is needed to understand the mechanisms that contribute to the disproportionate burden of this arrhythmia in patients with kidney disease and treatment options specific to this population of high-risk patients. PMID:24709949

Influence of cerebrovascular disease on brain networks in prodromal and clinical Alzheimer’s disease

PubMed Central

Chong, Joanna Su Xian; Liu, Siwei; Loke, Yng Miin; Hilal, Saima; Ikram, Mohammad Kamran; Xu, Xin; Tan, Boon Yeow; Venketasubramanian, Narayanaswamy; Chen, Christopher Li-Hsian

2017-01-01

Abstract Network-sensitive neuroimaging methods have been used to characterize large-scale brain network degeneration in Alzheimer’s disease and its prodrome. However, few studies have investigated the combined effect of Alzheimer’s disease and cerebrovascular disease on brain network degeneration. Our study sought to examine the intrinsic functional connectivity and structural covariance network changes in 235 prodromal and clinical Alzheimer’s disease patients with and without cerebrovascular disease. We focused particularly on two higher-order cognitive networks—the default mode network and the executive control network. We found divergent functional connectivity and structural covariance patterns in Alzheimer’s disease patients with and without cerebrovascular disease. Alzheimer’s disease patients without cerebrovascular disease, but not Alzheimer’s disease patients with cerebrovascular disease, showed reductions in posterior default mode network functional connectivity. By comparison, while both groups exhibited parietal reductions in executive control network functional connectivity, only Alzheimer’s disease patients with cerebrovascular disease showed increases in frontal executive control network connectivity. Importantly, these distinct executive control network changes were recapitulated in prodromal Alzheimer’s disease patients with and without cerebrovascular disease. Across Alzheimer’s disease patients with and without cerebrovascular disease, higher default mode network functional connectivity z-scores correlated with greater hippocampal volumes while higher executive control network functional connectivity z-scores correlated with greater white matter changes. In parallel, only Alzheimer’s disease patients without cerebrovascular disease showed increased default mode network structural covariance, while only Alzheimer’s disease patients with cerebrovascular disease showed increased executive control network structural

Kidney disease - resources

MedlinePlus

Resources - kidney disease ... The following organizations are good resources for information on kidney disease: National Institute of Diabetes and Digestive and Kidney Disease -- www.niddk.nih.gov/health-information/kidney- ...

Heart disease - resources

MedlinePlus

Resources - heart disease ... The following organizations are good resources for information on heart disease: American Heart Association -- www.heart.org Centers for Disease Control and Prevention -- www.cdc.gov/heartdisease

Disease-aging network reveals significant roles of aging genes in connecting genetic diseases.

PubMed

Wang, Jiguang; Zhang, Shihua; Wang, Yong; Chen, Luonan; Zhang, Xiang-Sun

2009-09-01

One of the challenging problems in biology and medicine is exploring the underlying mechanisms of genetic diseases. Recent studies suggest that the relationship between genetic diseases and the aging process is important in understanding the molecular mechanisms of complex diseases. Although some intricate associations have been investigated for a long time, the studies are still in their early stages. In this paper, we construct a human disease-aging network to study the relationship among aging genes and genetic disease genes. Specifically, we integrate human protein-protein interactions (PPIs), disease-gene associations, aging-gene associations, and physiological system-based genetic disease classification information in a single graph-theoretic framework and find that (1) human disease genes are much closer to aging genes than expected by chance; and (2) diseases can be categorized into two types according to their relationships with aging. Type I diseases have their genes significantly close to aging genes, while type II diseases do not. Furthermore, we examine the topological characters of the disease-aging network from a systems perspective. Theoretical results reveal that the genes of type I diseases are in a central position of a PPI network while type II are not; (3) more importantly, we define an asymmetric closeness based on the PPI network to describe relationships between diseases, and find that aging genes make a significant contribution to associations among diseases, especially among type I diseases. In conclusion, the network-based study provides not only evidence for the intricate relationship between the aging process and genetic diseases, but also biological implications for prying into the nature of human diseases.

Bladder Diseases

MedlinePlus

... frequent, urgent urination Bladder cancer Doctors diagnose bladder diseases using different tests. These include urine tests, x- ... National Institute of Diabetes and Digestive and Kidney Diseases

[Treatment of Crohn's disease].

PubMed

Vavricka, St R; Rogler, G

2009-01-21

The therapy of Crohn's disease depends on its disease activity. For those different disease activities (such as flare, chronic active disease, remission) varying treatment concepts are followed. This overview presents important concepts in the treatment of Crohn's disease.

Celiac disease - resources

MedlinePlus

... Association -- www.csaceliacs.org Gluten Intolerance Group -- www.gluten.org National Institute of Diabetes and Digestive and Kidney Disease -- www.niddk.nih.gov/health-information/digestive-diseases/celiac-disease Beyond Celiac -- www. ...

[Infectious diseases research].

PubMed

Carratalà, Jordi; Alcamí, José; Cordero, Elisa; Miró, José M; Ramos, José Manuel

2008-12-01

There has been a significant increase in research activity into infectious diseases in Spain in the last few years. The Spanish Society of Infectious Diseases and Clinical Microbiology (SEIMC) currently has ten study groups, with the cooperation of infectious diseases specialists and microbiologists from different centres, with significant research activity. The program of Redes Temáticas de Investigación Cooperativa en Salud (Special Topics Cooperative Health Research Networks) is an appropriate framework for the strategic coordination of research groups from the Spanish autonomous communities. The Spanish Network for Research in Infectious Diseases (REIPI) and the Network for Research in AIDS (RIS) integrate investigators in Infectious Diseases from multiple groups, which continuously perform important research projects. Research using different experimental models in infectious diseases, in numerous institutions, is an important activity in our country. The analysis of the recent scientific production in Infectious Diseases shows that Spain has a good position in the context of the European Union. The research activity in Infectious Diseases carried out in our country is a great opportunity for the training of specialists in this area of knowledge.

Increased risk of non-alcoholic fatty liver disease after diagnosis of celiac disease.

PubMed

Reilly, Norelle R; Lebwohl, Benjamin; Hultcrantz, Rolf; Green, Peter H R; Ludvigsson, Jonas F

2015-06-01

Non-alcoholic fatty liver disease is a common cause of chronic liver disease. Celiac disease alters intestinal permeability and treatment with a gluten-free diet often causes weight gain, but so far there are few reports of non-alcoholic fatty liver disease in patients with celiac disease. Population-based cohort study. We compared the risk of non-alcoholic fatty liver disease diagnosed from 1997 to 2009 in individuals with celiac disease (n = 26,816) to matched reference individuals (n = 130,051). Patients with any liver disease prior to celiac disease were excluded, as were individuals with a lifetime diagnosis of alcohol-related disorder to minimize misclassification of non-alcoholic fatty liver disease. Cox regression estimated hazard ratios for non-alcoholic fatty liver disease were determined. During 246,559 person-years of follow-up, 53 individuals with celiac disease had a diagnosis of non-alcoholic fatty liver disease (21/100,000 person-years). In comparison, we identified 85 reference individuals diagnosed with non-alcoholic fatty liver disease during 1,488,413 person-years (6/100,000 person-years). This corresponded to a hazard ratio of 2.8 (95% CI 2.0-3.8), with the highest risk estimates seen in children (HR = 4.6; 95% CI 2.3-9.1). The risk increase in the first year after celiac disease diagnosis was 13.3 (95% CI 3.5-50.3) but remained significantly elevated even beyond 15 years after the diagnosis of celiac disease (HR = 2.5; 95% CI 1.0-5.9). Individuals with celiac disease are at increased risk of non-alcoholic fatty liver disease compared to the general population. Excess risks were highest in the first year after celiac disease diagnosis, but persisted through 15 years after diagnosis with celiac disease. Copyright © 2015 European Association for the Study of the Liver. Published by Elsevier B.V. All rights reserved.

The elusive baseline of marine disease: Are diseases in ocean ecosystems increasing?

USGS Publications Warehouse

Ward, Jessica R.; Lafferty, Kevin D.

2004-01-01

Disease outbreaks alter the structure and function of marine ecosystems, directly affecting vertebrates (mammals, turtles, fish), invertebrates (corals, crustaceans, echinoderms), and plants (seagrasses). Previous studies suggest a recent increase in marine disease. However, lack of baseline data in most communities prevents a direct test of this hypothesis. We developed a proxy to evaluate a prediction of the increasing disease hypothesis: the proportion of scientific publications reporting disease increased in recent decades. This represents, to our knowledge, the first quantitative use of normalized trends in the literature to investigate an ecological hypothesis. We searched a literature database for reports of parasites and disease (hereafter “disease”) in nine marine taxonomic groups from 1970 to 2001. Reports, normalized for research effort, increased in turtles, corals, mammals, urchins, and molluscs. No significant trends were detected for seagrasses, decapods, or sharks/rays (though disease occurred in these groups). Counter to the prediction, disease reports decreased in fishes. Formulating effective resource management policy requires understanding the basis and timing of marine disease events. Why disease outbreaks increased in some groups but not in others should be a priority for future investigation. The increase in several groups lends urgency to understanding disease dynamics, particularly since few viable options currently exist to mitigate disease in the oceans.

miRNAs as Circulating Biomarkers for Alzheimer's Disease and Parkinson's Disease.

PubMed

Mushtaq, Gohar; Greig, Nigel H; Anwar, Firoz; Zamzami, Mazin A; Choudhry, Hani; Shaik, Munvar M; Tamargo, Ian A; Kamal, Mohammad A

2016-01-01

Detection of biomarkers for neurodegenerative disorders (NDDs) within brain tissues of Alzheimer's disease (AD) and Parkinson's disease (PD) patients has always been hampered by our inability to access and biopsy tissue of key brain regions implicated in disease occurrence and progression. Currently, diagnosis of NDDs is principally based on clinical observations of symptoms that present at later stages of disease progression, followed by neuroimaging and, possibly, CSF evaluation. One way to potentially detect and diagnose NDDs at a far earlier stage is to screen for abnormal levels of specific disease markers within the peripheral circulation of patients with NDDs. Increasing evidence suggests that there is dysregulation of microRNAs (miRNAs) in NDDs. Peripheral blood mononuclear cells, as well as biofluids, such as plasma, serum, urine and cerebrospinal fluid, contain miRNAs that can be identified and quantified. Circulating miRNAs within blood and other biofluids may thus be characterized and used as non-invasive, diagnostic biomarkers that facilitate the early detection of disease and potentially the continual monitoring of disease progression for NDDs such as AD and PD. Plainly, such a screen is only possible with a clear understanding of which miRNAs change with disease, and when these changes occur during the progression of AD and PD. Such information is becoming increasingly available and, in the near future, may not only support disease diagnosis, but provide the opportunity to evaluate therapeutic interventions earlier in the disease process.

AACE/ACE Disease State Clinical Review: Medical Management of Cushing Disease.

PubMed

Hamrahian, Amir H; Yuen, Kevin C J; Hoffman, Andrew R

2014-07-01

To review available medical therapies for patients with Cushing disease and to provide a roadmap for their use in clinical practice. PubMed searches were performed to identify all of the available published data on medical management of Cushing disease. Medical therapy is usually not the first-line treatment for patients with Cushing disease but may be used to improve clinical manifestations of Cushing disease in patients who are not suitable candidates for surgery, following unsuccessful surgery or recurrence, or as a "bridge therapy" in those who have undergone radiotherapy. Medical therapy may also be used in preoperative preparation of patients with severe disease. Current available medical options for patients with Cushing disease include centrally acting agents, steroidogenesis inhibitors, and a glucocorticoid receptor antagonists. At present, there are no head-to-head studies comparing the efficacy, tolerability, and safety of different U.S. Food and Drug Administration (FDA)- and non-FDA-approved drugs in patients with Cushing disease. With the initiation of new studies and the completion of ongoing clinical trials, the number of FDA-approved drugs for medical treatment of Cushing disease is expected to increase. Medical therapy has an important adjunctive role in the management of patients with Cushing disease. The decision to initiate medical treatment depends on many factors, including patient characteristics and preference. Long-term studies are needed to better define the clinical efficacy, safety, and tolerability of medical treatment of Cushing disease, including the role of combination therapies.

Lyme disease and post-treatment Lyme disease syndrome: the neglected disease in our own backyard.

PubMed

Crowder, L A; Yedlin, V A; Weinstein, E R; Kortte, K B; Aucott, J N

2014-09-01

A survey was developed to assess experience and opinions about Lyme disease and post-treatment Lyme disease syndrome (PTLDS) among faculties in public health. No previous surveys of public health faculties have been found in the literature. This is a cross sectional study of public health school faculty members designed to measure knowledge and experience with Lyme disease and PTLDS using an internet survey instrument. Participants were recruited using all the publicly available e-mail addresses of faculty members in all the 50 accredited Schools of Public Health in the United States. A 15% response rate was seen for the survey. 50% of respondents were from Lyme endemic states. Less than 5% of faculty members consider themselves expert in Lyme or PTLDS. Many faculty members had known someone with Lyme disease or PTLDS, but few had been diagnosed themselves. Most believe that PTLDS can be severe and chronic, is not easy to treat, and does not resolve on its own, but were uncertain about its aetiology. Most respondents also felt that the incidence of Lyme disease will increase and that more education is needed. The need for further understanding and communication presents an opportunity for public health research and education in Lyme disease and the sequelae of PTLDS. Copyright © 2014 The Royal Society for Public Health. Published by Elsevier Ltd. All rights reserved.

[Genetic basis for skeletal disease. Dental management of patients with bone diseases].

PubMed

Shintani, Seikou; Ooshima, Takashi

2010-08-01

Malformation of teeth can be found in patients with bone diseases, which was induced when the disease occurred during the tooth formation. The tooth malformation shows typical manifestations of the disease, which may demonstrate the occurrence of the bone disease. In this article, dental management of the patients with bone diseases such as X-linked hypophosphatemic rickets, osteogenesis imperfecta, and hypophosphatasia was presented.

Management of upper extremity dysfunction in people with Parkinson disease and Huntington disease: facilitating outcomes across the disease lifespan.

PubMed

Quinn, Lori; Busse, Monica; Dal Bello-Haas, Vanina

2013-01-01

Parkinson Disease (PD) and Huntington Disease (HD) are degenerative neurological diseases, which can result in impairments and activity limitations affecting the upper extremities from early in the disease process. The progressive nature of these diseases poses unique challenges for therapists aiming to effectively maximize physical functioning and minimize participation restrictions in these patient groups. Research is underway in both diseases to develop effective disease-modifying agents and pharmacological interventions, as well as mobility-focused rehabilitation protocols. Rehabilitation, and in particular task-specific interventions, has the potential to influence the upper extremity functional abilities of patients with these degenerative conditions. However to date, investigations of interventions specifically addressing upper extremity function have been limited in both PD, and in particular HD. In this paper, we provide an update of the known pathological features of PD and HD as they relate to upper extremity function. We further review the available literature on the use of outcome measures, and the clinical management of upper extremity function in both conditions. Due to the currently limited evidence base in both diseases, we recommend utilization of a clinical management framework specific for degenerative conditions that can serve as a guideline for disease management. Copyright © 2013. Published by Elsevier Inc.

Infectious disease

NASA Technical Reports Server (NTRS)

Pierson, Duane L.

1990-01-01

This is a collection of viewgraphs on the Johnson Space Center's work on infectious disease. It addresses their major concern over outbreaks of infectious disease that could jeopardize the health, safety and/or performance of crew members engaged in long duration space missions. The Antarctic environment is seen as an analogous location on Earth and a good place to carry out such infectious disease studies and methods for proposed studies as suggested.

Krabbe Disease (GLD)

MedlinePlus

... del paciente Transplant process Diseases treated by transplant Acute myeloid leukemia Adrenoleukodystrophy (ALD) Chronic Lymphocytic Leukemia (CLL) ... SCID) Sickle cell disease (SCD) Wiskott-Aldrich syndrome Acute lymphoblastic leukemia (ALL) Other diseases Treatment decisions Learn ...

Fatty Liver Disease

MedlinePlus

... fatty liver disease that is not related to heavy alcohol use. There are two kinds: Simple fatty ... disease? Alcoholic fatty liver disease is due to heavy alcohol use. Your liver breaks down most of ...

Chronic Diseases Overview

MedlinePlus

... cases of blindness among adults. 6 Health Risk Behaviors that Cause Chronic Diseases Health risk behaviors are ... The Cost of Chronic Diseases and Health Risk Behaviors In the United States, chronic diseases and conditions ...

Management of neurodegenerative disorders: Parkinson's disease and Alzheimer's disease.

PubMed

Pal, P K; Netravathi, M

2005-03-01

Neurodegenerative disorders result from premature progressive degeneration of specific neurons, and manifest as diseases or syndromes with varied combinations of cognitive, motor, sensory and autonomic dysfunctions. The management involves pharmacotherapy as well as non-pharmacological measures and also to lessen the burden of the care-givers. The medications available for medical treatment are: Levodopa, dopamine agonists, amantadine, anticholinergics, enzyme inhibitors, etc. Advanced Parkinson's disease is concerned with management of motor complications and non-motor complications. Recently surgical treatment is a great option for managing motor complication. Orthostatic hypotension, gait distiurbances, emotional and psychiatric problems, sleep disturbances can be managed and had been discussed in brief. Currently there is no medication available for the cure of Alzheimer's disease. The specific medications claimed to improve patient's well being and cognition include cholinesterase inhibitors, N-methyl-D-aspartate receptor antagonist, anti-oxidants, and anti-amyloid therapy. While medical and surgical treatments for Parkinson's disease have revolutionised the management, still drug therapy for Alzheimer's disease is dismal.

Spreading disease: a controversy concerning the metaphysics of disease.

PubMed

D'Amico, R

1998-01-01

This article concerns the metaphysics of disease. Is disease a fixed feature of the world or a social value or preference? I argue that disease is not a value-laden concept and thus debates concerning it differ fundamentally from debates concerning health, harm, or suffering where evaluative judgements are central. I show how the so-called social constructionist view of disease has been motivated both by ethical concerns with medical practices and general theoretical doubts about scientific naturalism. If I can show that ethical concerns about medical treatment can be answered without adopting social constructionism, that leaves only the broader theoretical question of naturalism. I cannot completely answer those theoretical doubts, but I show that the theoretical motivation is less convincing when it is separated from the moral challenge often accompanying it. I conclude that a convincing defense of the non-naturalistic conception of disease is rarely attempted and proves more difficult and counter-intuitive than its proponents assume.

Cancer risk associated with chronic diseases and disease markers: prospective cohort study

PubMed Central

Tu, Huakang; Wen, Chi Pang; Tsai, Shan Pou; Chow, Wong-Ho; Wen, Christopher; Ye, Yuanqing; Zhao, Hua; Tsai, Min Kuang; Huang, Maosheng; Dinney, Colin P; Tsao, Chwen Keng

2018-01-01

Abstract Objectives To assess the independent and joint associations of major chronic diseases and disease markers with cancer risk and to explore the benefit of physical activity in reducing the cancer risk associated with chronic diseases and disease markers. Design Prospective cohort study. Setting Standard medical screening program in Taiwan. Participants 405 878 participants, for whom cardiovascular disease markers (blood pressure, total cholesterol, and heart rate), diabetes, chronic kidney disease markers (proteinuria and glomerular filtration rate), pulmonary disease, and gouty arthritis marker (uric acid) were measured or diagnosed according to standard methods, were followed for an average of 8.7 years. Main outcome measures Cancer incidence and cancer mortality. Results A statistically significantly increased risk of incident cancer was observed for the eight diseases and markers individually (except blood pressure and pulmonary disease), with adjusted hazard ratios ranging from 1.07 to 1.44. All eight diseases and markers were statistically significantly associated with risk of cancer death, with adjusted hazard ratios ranging from 1.12 to 1.70. Chronic disease risk scores summarizing the eight diseases and markers were positively associated with cancer risk in a dose-response manner, with the highest scores associated with a 2.21-fold (95% confidence interval 1.77-fold to 2.75-fold) and 4.00-fold (2.84-fold to 5.63-fold) higher cancer incidence and cancer mortality, respectively. High chronic disease risk scores were associated with substantial years of life lost, and the highest scores were associated with 13.3 years of life lost in men and 15.9 years of life lost in women. The population attributable fractions of cancer incidence or cancer mortality from the eight chronic diseases and markers together were comparable to those from five major lifestyle factors combined (cancer incidence: 20.5% v 24.8%; cancer mortality: 38.9% v 39.7%). Among

Von Hippel-Lindau Disease

MedlinePlus

What is Von Hippel-Lindau disease (VHL)? Von Hippel-Lindau disease (VHL) is a rare disease that causes tumors and cysts to grow in your body. They ... can become cancerous. What causes Von Hippel-Lindau disease (VHL)? Von Hippel-Lindau disease (VHL) is a ...

Kidney Disease Basics

MedlinePlus

... My Kidneys Fail? Clinical Trials What Is Chronic Kidney Disease? Chronic kidney disease (CKD) means your kidneys ... work, be active, and enjoy life. Will my kidneys get better? Kidney disease is often “progressive”, which ...

Lyme Disease Transmission

MedlinePlus

... cases of Lyme disease have been linked to blood transfusion, scientists have found that the Lyme disease bacteria ... through the use of tick control products for animals. You will not get Lyme disease from eating ...

Biomarker for Glycogen Storage Diseases

ClinicalTrials.gov

2017-07-03

Fructose Metabolism, Inborn Errors; Glycogen Storage Disease; Glycogen Storage Disease Type I; Glycogen Storage Disease Type II; Glycogen Storage Disease Type III; Glycogen Storage Disease Type IV; Glycogen Storage Disease Type V; Glycogen Storage Disease Type VI; Glycogen Storage Disease Type VII; Glycogen Storage Disease Type VIII

Infectious Diseases

MedlinePlus

... may carry the bacterium that causes Lyme disease. Food contamination Another way disease-causing germs can infect you is through contaminated food and water. This mechanism of transmission allows germs ...

Understanding cardiovascular disease

MedlinePlus

... page: //medlineplus.gov/ency/patientinstructions/000759.htm Understanding cardiovascular disease To use the sharing features on this page, ... lead to heart attack or stroke. Types of Cardiovascular Disease Coronary heart disease (CHD) is the most common ...

Pediatric Celiac Disease

MedlinePlus

... Free Recipe Article What is Celiac Disease Video Support Organizations National Foundation for Celiac Awareness (NFCA) Celiac Central Canadian Celiac Association Celiac Disease Foundation Celiac Sprue ... Educational support for the NASPGHAN Foundation's Celiac Disease Education Campaign ...

Lyme disease (image)

MedlinePlus

Lyme disease is an acute inflammatory disease characterized by skin changes, joint inflammation and symptoms similar to the ... that is caused by the bacterium Borrelia burgdorferi . Lyme disease is transmitted by the bite of a deer ...

Behcet's disease.

PubMed

Suzuki Kurokawa, M; Suzuki, N

2004-09-01

Behcet's disease (BD) is a systemic disorder of recurrent acute inflammation, characterized by major symptoms of oral aphthous ulcers, uveitis, skin lesions and genital ulcers. Involvement of intestines, vessels, and central nervous system (CNS) sometimes leads to a poor prognosis. Patients with BD are known to distribute along the ancient Silk Road. The incidence is relatively higher from eastern Asia to the Mediterranean area as roughly 1-10 patients in 10,000 people, whereas only 1-2 patients in 1,000,000 people in UK and North America. Although etiology of the disease is still unknown, high prevalence of HLA-B51, increased expression of heat shock protein 60 and Th1 dominant immune responses in the patients are considered important in its pathogenesis. Non-infectious neutrophil activation and infection with Streptococcus sanguis and herpes simplex virus would also be associated. Because BD lacks any pathognomonic symptoms and laboratory findings, the diagnosis relies largely upon the criteria proposed by the International Study Group for Behcet's disease in 1990. In Japan, the diagnosis was also made according to the Japanese criteria revised in 1987. Recently, the Behcet's Disease Research Committee of Japan again revised the Japanese criteria in 2003 to avoid overdiagnosis. The new Japanese criteria are introduced in this review. Differential diagnosis excluding Sweet's disease, pemphigus, erythema nodosum and Crohn's disease is important, and positive laboratory data for pathergy test, prick test for dead Streptococci and HLA-B51 are emphasized to make appropriate diagnosis in these criteria. Pathological findings of the disease-affected site such as erythematous nodosum is also stressed. Treatment for the disease has been chosen according to the clinical symptoms. Non-steroidal anti-inflammatory drugs, immunosuppressants, corticosteroids and colchicine are basically introduced. Recently, effects of interferon-alpha/beta, anti-tumor necrosis factor antibody

Gaucher disease: the role of the specialist on metabolic bone diseases.

PubMed

Masi, Laura; Brandi, Maria Luisa

2015-01-01

According to European legislation, a disease can be considered rare or "orphan" when it affects less than 1 subject of 2000 (1). Often these diseases affecting the pediatric age, are complex diseases and chronically debilitating and for this motive need the intervention of multidisciplinary skills specific. Among the rare disease as affecting the skeleton more than 400 are characterized by dysplastic changes of the skeleton (2). Alongside the disorders affecting the skeleton primitively, many systemic diseases can have a bone involvement. Among these, the Gaucher disease (GD), an heterogeneous lysosomal storage determined by hereditary enzyme deficiency of β-glucosidase. Patients with this disease have skeletal disorders of varying severity (Erlenmeyer flask deformity, lytic lesions and osteonecrosis, pathological fractures) that affects both the bone marrow, both mineralized bone with progressive damage of the tissue. The bone disease is the most debilitating of GD and can have a significant impact on the quality of life of patients. Thorough evaluations by monitoring biochemical markers of bone turnover and instrumental, with a quantitative and qualitative evaluation of the bone, are of fundamental importance to intervene early so they can prevent complications irreversible.

Gaucher disease: the role of the specialist on metabolic bone diseases

PubMed Central

Masi, Laura; Brandi, Maria Luisa

2015-01-01

Summary According to European legislation, a disease can be considered rare or “orphan” when it affects less than 1 subject of 2000 (1). Often these diseases affecting the pediatric age, are complex diseases and chronically debilitating and for this motive need the intervention of multidisciplinary skills specific. Among the rare disease as affecting the skeleton more than 400 are characterized by dysplastic changes of the skeleton (2). Alongside the disorders affecting the skeleton primitively, many systemic diseases can have a bone involvement. Among these, the Gaucher disease (GD), an heterogeneous lysosomal storage determined by hereditary enzyme deficiency of β-glucosidase. Patients with this disease have skeletal disorders of varying severity (Erlenmeyer flask deformity, lytic lesions and osteonecrosis, pathological fractures) that affects both the bone marrow, both mineralized bone with progressive damage of the tissue. The bone disease is the most debilitating of GD and can have a significant impact on the quality of life of patients. Thorough evaluations by monitoring biochemical markers of bone turnover and instrumental, with a quantitative and qualitative evaluation of the bone, are of fundamental importance to intervene early so they can prevent complications irreversible. PMID:26604943

Digestive diseases

MedlinePlus

... this page: //medlineplus.gov/ency/article/007447.htm Digestive diseases To use the sharing features on this page, please enable JavaScript. Digestive diseases are disorders of the digestive tract, which ...

Tick-borne disease.

PubMed

Bratton, Robert L; Corey, Ralph

2005-06-15

Tick-borne diseases in the United States include Rocky Mountain spotted fever, Lyme disease, ehrlichiosis, tularemia, babesiosis, Colorado tick fever, and relapsing fever. It is important for family physicians to consider these illnesses when patients present with influenza-like symptoms. A petechial rash initially affecting the palms and soles of the feet is associated with Rocky Mountain spotted fever, whereas erythema migrans (annular macule with central clearing) is associated with Lyme disease. Various other rashes or skin lesions accompanied by fever and influenza-like illness also may signal the presence of a tick-borne disease. Early, accurate diagnosis allows treatment that may help prevent significant morbidity and possible mortality. Because 24 to 48 hours of attachment to the host are required for infection to occur, early removal can help prevent disease. Treatment with doxycycline or tetracycline is indicated for Rocky Mountain spotted fever, Lyme disease, ehrlichiosis, and relapsing fever. In patients with clinical findings suggestive of tick-borne disease, treatment should not be delayed for laboratory confirmation. If no symptoms follow exposure to tick bites, empiric treatment is not indicated. The same tick may harbor different infectious pathogens and transmit several with one bite. Advising patients about prevention of tick bites, especially in the summer months, may help prevent exposure to dangerous vector-borne diseases.

Parkinson disease

MedlinePlus

... this page: //medlineplus.gov/ency/article/000755.htm Parkinson disease To use the sharing features on this page, please enable JavaScript. Parkinson disease results from certain brain cells dying. These cells ...

Poverty-related diseases (PRDs): unravelling complexities in disease responses in Cameroon.

PubMed

Makoge, Valerie; Maat, Harro; Vaandrager, Lenneke; Koelen, Maria

2017-01-01

In Cameroon, poverty-related diseases (PRDs) are a major public health concern. Research and policies addressing PRDs are based on a particular understanding of the interaction between poverty and disease, usually an association between poverty indicators and health indicators for a specific country or region. Such indicators are useful but fail to explain the nature of the linkages between poverty and disease or poverty and health. This paper presents results of a study among university students, unravelling how they perceive diseases, the linkages with poverty, their responses to diseases and the motivations behind reported responses. Based on the health belief model, this cross-sectional study was carried out among 272 students at the universities of Buea and Yaoundé in Cameroon. Data were collected using questionnaires containing items matching the research objectives. The questionnaires were self-completed. Malaria was considered as the most common disease perceived and also a major PRD. Contrary to official rankings of HIV/AIDS and TB, cholera and diarrhoea were considered as other major PRDs. Also, typhoid fever was perceived to be more common and a PRD than HIV/AIDS and TB combined. The most prominently attributed cause for disease was (lack of) hygiene. In response, students deployed formal and/or informal healthcare strategies, depending on factors like available money, perceived severity of the disease and disease type. Discrepancies were observed in respondents' response to diseases generally and to malaria in particular. Even though, overall, respondents pre-dominantly reported a formal healthcare response toward diseases in general, for malaria, informal responses dominated. There was an overall strong awareness and (pro)activity among students for dealing with diseases. Although the high use of informal facilities and medication for malaria may well be a reason why eradication is problematic, this seems to be a deliberate strategy linked to an

Inflammatory Bowel Disease.

PubMed

2016-01-01

Inflammation response plays an important role in host survival, and it also leads to acute and chronic inflammatory diseases such as rheumatoid arthritis, bowel diseases, allergic rhinitis, asthma, atopic dermatitis and various neurodegenerative diseases. During the course of inflammation, the ROS level increases. In addition to ROS, several inflammatory mediators produced at the site lead to numerous cell-mediated damages. Inflammatory bowel disease (IBD), including ulcerative colitis and Crohn's disease, is a chronic intestinal disorder resulting from a dysfunctional epithelial, innate and adaptive immune response to intestinal microorganisms. The methods involving indomethacin-induced enterocolitis in rats with macroscopic changes of IBD, myeloperoxidase assay, microscopic (histologic) characters and biochemical parameters are discussed.

Alcoholic liver disease.

PubMed

Penny, Steven M

2013-01-01

In the United States, approximately 100,000 deaths are attributed to alcohol abuse each year. In 2009, the World Health Organization listed alcohol use as one of the leading causes of the global burden of disease and injury. Alcoholic liver disease, a direct result of chronic alcohol abuse, insidiously destroys the normal functions of the liver. The end result of the disease, cirrhosis, culminates in a dysfunctional and diffusely scarred liver. This article discusses the clinical manifestations, imaging considerations, and treatment of alcoholic liver disease and cirrhosis. Normal liver function, liver hemodynamics, the disease of alcoholism, and the deleterious effects of alcohol also are reviewed.

Using internet search queries for infectious disease surveillance: screening diseases for suitability.

PubMed

Milinovich, Gabriel J; Avril, Simon M R; Clements, Archie C A; Brownstein, John S; Tong, Shilu; Hu, Wenbiao

2014-12-31

Internet-based surveillance systems provide a novel approach to monitoring infectious diseases. Surveillance systems built on internet data are economically, logistically and epidemiologically appealing and have shown significant promise. The potential for these systems has increased with increased internet availability and shifts in health-related information seeking behaviour. This approach to monitoring infectious diseases has, however, only been applied to single or small groups of select diseases. This study aims to systematically investigate the potential for developing surveillance and early warning systems using internet search data, for a wide range of infectious diseases. Official notifications for 64 infectious diseases in Australia were downloaded and correlated with frequencies for 164 internet search terms for the period 2009-13 using Spearman's rank correlations. Time series cross correlations were performed to assess the potential for search terms to be used in construction of early warning systems. Notifications for 17 infectious diseases (26.6%) were found to be significantly correlated with a selected search term. The use of internet metrics as a means of surveillance has not previously been described for 12 (70.6%) of these diseases. The majority of diseases identified were vaccine-preventable, vector-borne or sexually transmissible; cross correlations, however, indicated that vector-borne and vaccine preventable diseases are best suited for development of early warning systems. The findings of this study suggest that internet-based surveillance systems have broader applicability to monitoring infectious diseases than has previously been recognised. Furthermore, internet-based surveillance systems have a potential role in forecasting emerging infectious disease events, especially for vaccine-preventable and vector-borne diseases.

Addison's disease secondary to connective tissue diseases: a report of six cases.

PubMed

Zhang, Zhuo-li; Wang, Yu; Zhou, Wei; Hao, Yan-jie

2009-04-01

Addison's disease is an autoimmune process. However, Addison's disease associated with connective tissue diseases (CTD) is only occasionally reported. Here, we report six cases of Addison's disease secondary to a variety of CTD, which include systemic lupus erythematosus, Takayasu arteritis, systemic sclerosis, ankylosing spondylitis (AS) and antiphospholipid antibody syndrome. The association of Addison's disease with Takayasu arteritis and AS is reported for the first time. We also found high prevalence of hypothyroidism as concomitant autoimmune disorder. Our case series highlight the autoimmune features of Addison's disease. Therefore, we suggest considering adrenal dysfunction in patients with CTD.

Coeliac disease in autoimmune liver disease: a cross-sectional study and a systematic review.

PubMed

Mirzaagha, Foroozandeh; Azali, Sepideh Hagh; Islami, Farhad; Zamani, Farhad; Khalilipour, Elias; Khatibian, Morteza; Malekzadeh, Reza

2010-09-01

Several studies have reported an association between coeliac disease and autoimmune liver disease, but there is little information on the prevalence of coeliac disease in certain autoimmune liver diseases, particularly from non-European, non-American countries. To investigate prevalence of coeliac disease in autoimmune liver disease in Iran and to summarize previous literature. We investigated prevalence of coeliac disease among 100 autoimmune liver disease patients and compared it with the prevalence in healthy individuals. We also performed an extensive search of the English literature in PubMed Database. We found substantially elevated prevalence of coeliac disease in patients with overlap syndrome (10-15%) compared to the general population (0.1-1%). To a lesser extent, the prevalence was high in patients with autoimmune hepatitis (2-4%). In our systematic review, prevalence of coeliac disease in autoimmune hepatitis in the majority of studies was 4% or more; several studies also reported such prevalence in primary biliary cirrhosis. Since coeliac disease is common among patients with autoimmune liver disease, screening autoimmune liver disease patients for coeliac disease is indicated. Although the magnitude of benefit from a gluten-free diet in reversing autoimmune liver disease in patients with coeliac disease is controversial, it may reduce the risk of further complications of coeliac disease. Copyright (c) 2010 Editrice Gastroenterologica Italiana S.r.l. Published by Elsevier Ltd. All rights reserved.

Cancer risk associated with chronic diseases and disease markers: prospective cohort study.

PubMed

Tu, Huakang; Wen, Chi Pang; Tsai, Shan Pou; Chow, Wong-Ho; Wen, Christopher; Ye, Yuanqing; Zhao, Hua; Tsai, Min Kuang; Huang, Maosheng; Dinney, Colin P; Tsao, Chwen Keng; Wu, Xifeng

2018-01-31

To assess the independent and joint associations of major chronic diseases and disease markers with cancer risk and to explore the benefit of physical activity in reducing the cancer risk associated with chronic diseases and disease markers. Prospective cohort study. Standard medical screening program in Taiwan. 405 878 participants, for whom cardiovascular disease markers (blood pressure, total cholesterol, and heart rate), diabetes, chronic kidney disease markers (proteinuria and glomerular filtration rate), pulmonary disease, and gouty arthritis marker (uric acid) were measured or diagnosed according to standard methods, were followed for an average of 8.7 years. Cancer incidence and cancer mortality. A statistically significantly increased risk of incident cancer was observed for the eight diseases and markers individually (except blood pressure and pulmonary disease), with adjusted hazard ratios ranging from 1.07 to 1.44. All eight diseases and markers were statistically significantly associated with risk of cancer death, with adjusted hazard ratios ranging from 1.12 to 1.70. Chronic disease risk scores summarizing the eight diseases and markers were positively associated with cancer risk in a dose-response manner, with the highest scores associated with a 2.21-fold (95% confidence interval 1.77-fold to 2.75-fold) and 4.00-fold (2.84-fold to 5.63-fold) higher cancer incidence and cancer mortality, respectively. High chronic disease risk scores were associated with substantial years of life lost, and the highest scores were associated with 13.3 years of life lost in men and 15.9 years of life lost in women. The population attributable fractions of cancer incidence or cancer mortality from the eight chronic diseases and markers together were comparable to those from five major lifestyle factors combined (cancer incidence: 20.5% v 24.8%; cancer mortality: 38.9% v 39.7%). Among physically active (versus inactive) participants, the increased cancer risk

Lyme disease antibody

MedlinePlus

... Lyme disease organism, Borrelia burgdorferi Deer ticks Ticks Lyme disease - Borrelia burgdorferi organism Tick imbedded in the skin Antibodies ... Saunders; 2013:745-747. Steere AC. Lyme disease (Lyme borreliosis) due to Borrelia burgdorferi . In: Bennett JE, Dolin R, Blaser MJ, ...

Hirschsprung disease.

PubMed

Haricharan, Ramanath N; Georgeson, Keith E

2008-11-01

Hirschsprung disease is a relatively common condition managed by pediatric surgeons. Significant advances have been made in understanding its etiologies in the last decade, especially with the explosion of molecular genetic techniques and early diagnosis. The surgical management has progressed from a two- or three-stage procedure to a primary operation. More recently, definitive surgery for Hirschsprung disease through minimally invasive techniques has gained popularity. In neonates, the advancement of treatment strategies for Hirschsprung disease continues with reduced patient morbidity and improved outcomes.

DISEASES: text mining and data integration of disease-gene associations.

PubMed

Pletscher-Frankild, Sune; Pallejà, Albert; Tsafou, Kalliopi; Binder, Janos X; Jensen, Lars Juhl

2015-03-01

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. The DISEASES resource is accessible through a web interface at http://diseases.jensenlab.org/, where the text-mining software and all associations are also freely available for download. Copyright © 2014 The Authors. Published by Elsevier Inc. All rights reserved.

Celiac Disease

MedlinePlus

... immune disease in which people can't eat gluten because it will damage their small intestine. If you have celiac disease and eat foods with gluten, your immune system responds by damaging the small ...

Alexander Disease

MedlinePlus

... there are no ethnic, racial, geographic, or cultural/economic differences in its distribution. Alexander disease is a ... there are no ethnic, racial, geographic, or cultural/economic differences in its distribution. Alexander disease is a ...

Kidney Diseases

MedlinePlus

... until you go to the bathroom. Most kidney diseases attack the nephrons. This damage may leave kidneys ... medicines. You have a higher risk of kidney disease if you have diabetes, high blood pressure, or ...

Eye Diseases

MedlinePlus

... the back of the eye Macular degeneration - a disease that destroys sharp, central vision Diabetic eye problems ... defense is to have regular checkups, because eye diseases do not always have symptoms. Early detection and ...

Addison Disease

MedlinePlus

... blood pressure and water and salt balance. Addison disease happens if the adrenal glands don't make ... problem with your immune system usually causes Addison disease. The immune system mistakenly attacks your own tissues, ...

Endocrine Diseases

MedlinePlus

... low, you may have a hormone disorder. Hormone diseases also occur if your body does not respond ... In the United States, the most common endocrine disease is diabetes. There are many others. They are ...

Mitochondrial Diseases

MedlinePlus

... disorder, something goes wrong with this process. Mitochondrial diseases are a group of metabolic disorders. Mitochondria are ... cells and cause damage. The symptoms of mitochondrial disease can vary. It depends on how many mitochondria ...

Liver Diseases

MedlinePlus

Your liver is the largest organ inside your body. It helps your body digest food, store energy, and remove poisons. There are many kinds of liver diseases: Diseases caused by viruses, such as hepatitis ...

Autoimmune Diseases

MedlinePlus

... Disease Symptoms Alopecia areata (Al-uh-PEE-shuh AR-ee-AYT-uh) The immune system attacks hair ... spine is involved. Rheumatoid arthritis (ROO-muh-toid ar-THREYE-tuhss) A disease in which the immune ...

Canavan Disease

MedlinePlus

... Ashkenazi Jews from eastern Poland, Lithuania, and western Russia, and among Saudi Arabians. Canavan disease can be ... Ashkenazi Jews from eastern Poland, Lithuania, and western Russia, and among Saudi Arabians. Canavan disease can be ...

Thyroid Disease

MedlinePlus

... the disease and what symptoms you have. For example, if you get symptoms of hyperthyroidism in the ... the disease and what symptoms you have. For example, if you get symptoms of hyperthyroidism in the ...

Fifth Disease

MedlinePlus

... past. The others included measles, rubella (German measles), chicken pox, scarlet fever, and roseola. Fifth disease is ... The first signs of fifth disease are mild flu- or cold-like symptoms, including: low-grade fever ...

[Chronic non-communicable diseases in Brazil: priorities for disease management and research].

PubMed

Duncan, Bruce Bartholow; Chor, Dóra; Aquino, Estela M L; Bensenor, Isabela M; Mill, José Geraldo; Schmidt, Maria Inês; Lotufo, Paulo Andrade; Vigo, Alvaro; Barreto, Sandhi Maria

2012-12-01

Chronic Non-Communicable Diseases are the main source of disease burden in Brazil. In 2011, the Brazilian Ministry of Health launched the Strategic Plan of Action for Management of Chronic Non-Communicable Diseases focusing on population-based interventions to manage cardiovascular diseases, diabetes, cancer, and chronic respiratory diseases mainly through fighting tobacco use, unhealthy diets, physical inactivity and the harmful use of alcohol. Although a significant number of scientific studies on chronic diseases and their risk factors have been undertaken in Brazil, few are of cohort design. In this context, the Brazilian Longitudinal Study of Adult Health (ELSA-Brasil), a cohort study of 15,105 Brazilian public servants reflects the reality of high prevalences of diabetes, hypertension and the main chronic diseases risk factors. The diversity of information that the Study will produce can provide important input to better understand the causes of chronic diseases and to support public policies for fighting them.

Crohn disease

PubMed Central

Stappenbeck, Thaddeus S.; Rioux, John D.; Mizoguchi, Atsushi; Saitoh, Tatsuya; Huett, Alan; Darfeuille-Michaud, Arlette; Wileman, Tom; Mizushima, Noboru; Carding, Simon; Akira, Shizuo; Parkes, Miles; Xavier, Ramnik J.

2011-01-01

Crohn disease (CD) is a chronic and debilitating inflammatory condition of the gastrointestinal tract.1 Prevalence in western populations is 100–150/100,000 and somewhat higher in Ashkenazi Jews. Peak incidence is in early adult life, although any age can be affected and a majority of affected individuals progress to relapsing and chronic disease. Medical treatments rely significantly on empirical corticosteroid therapy and immunosuppression, and intestinal resectional surgery is frequently required. Thus, 80% of patients with CD come to surgery for refractory disease or complications. It is hoped that an improved understanding of pathogenic mechanisms, for example by studying the genetic basis of CD and other forms of inflammatory bowel diseases (IBD), will lead to improved therapies and possibly preventative strategies in individuals identified as being at risk. PMID:20729636

Kawasaki Disease

PubMed Central

2006-01-01

Kawasaki disease is an acute febrile, systemic vasculitic syndrome of an unknown etiology that primarily occurs in children younger than five years of age. The principal presentations of Kawasaki disease include fever, bilateral nonexudative conjunctivitis, erythema of the lips and oral mucosa, changes in the extremities, rash, and cervical lymphadenopathy. Coronary artery aneurysms or ectasia develops in 15% to 25% of untreated children with the disease, which may later lead to myocardial infarction, sudden death, or ischemic heart disease. Treatment with intravenous gamma globulin (IVIG) is effective, but the mode of action is still unclear. The development of a diagnostic test, a more specific therapy, and ultimately the prevention of this potentially fatal illness in children are all dependent upon the continued advances in determining the etiopathogenesis of this fascinating disorder. PMID:17191303

Quiz: Alzheimer's Disease Quiz | Alzheimer's disease | NIH MedlinePlus the Magazine

MedlinePlus

... of this page please turn Javascript on. Feature: Alzheimer's Disease Quiz: Alzheimer's Disease Quiz Past Issues / Fall 2010 Table of ... How many people in the United States have Alzheimer's disease? as many as 5.1 million as ...

Infectious Disease Specialist: What Is an Infectious Disease Specialist?

MedlinePlus

... More: Facts about ID Infectious Diseases Society of America 1300 Wilson Boulevard Suite 300 Arlington, VA 22209 | ... Us © Copyright IDSA 2018 Infectious Diseases Society of America Full Site Mobile Site

Predicting Outcomes to Optimize Disease Management in Inflammatory Bowel Diseases.

PubMed

Torres, Joana; Caprioli, Flavio; Katsanos, Konstantinos H; Lobatón, Triana; Micic, Dejan; Zerôncio, Marco; Van Assche, Gert; Lee, James C; Lindsay, James O; Rubin, David T; Panaccione, Remo; Colombel, Jean-Frédéric

2016-12-01

Efforts to slow or prevent the progressive course of inflammatory bowel diseases [IBD] include early and intensive monitoring and treatment of patients at higher risk for complications. It is therefore essential to identify high-risk patients - both at diagnosis and throughout disease course. As a part of an IBD Ahead initiative, we conducted a comprehensive literature review to identify predictors of long-term IBD prognosis and generate draft expert summary statements. Statements were refined at national meetings of IBD experts in 32 countries and were finalized at an international meeting in November 2014. Patients with Crohn's disease presenting at a young age or with extensive anatomical involvement, deep ulcerations, ileal/ileocolonic involvement, perianal and/or severe rectal disease or penetrating/stenosing behaviour should be regarded as high risk for complications. Patients with ulcerative colitis presenting at young age, with extensive colitis and frequent flare-ups needing steroids or hospitalization present increased risk for colectomy or future hospitalization. Smoking status, concurrent primary sclerosing cholangitis and concurrent infections may impact the course of disease. Current genetic and serological markers lack accuracy for clinical use. Simple demographic and clinical features can guide the clinician in identifying patients at higher risk for disease complications at diagnosis and throughout disease course. However, many of these risk factors have been identified retrospectively and lack validation. Appropriately powered prospective studies are required to inform algorithms that can truly predict the risk for disease progression in the individual patient. © European Crohn’s and Colitis Organisation 2016.

Kawasaki disease

MedlinePlus

... signs of heart disease, adding steroids or tumor necrosis factor (TNF) inhibitors such as infliximab (Remicade) or ... Possible Complications Kawasaki disease can cause inflammation of blood vessels in the arteries, especially the coronary arteries. This ...

Lung Diseases

MedlinePlus

... 000 times. People with lung disease have difficulty breathing. Millions of people in the U.S. have lung ... pneumonia and tuberculosis, lung cancer, and many other breathing problems. Some lung diseases can lead to respiratory ...

Alzheimer disease

MedlinePlus

... likely need to plan for their loved one's future care. The final phase of the disease may ... disease and other dementias. In: Goldman L, Schafer AI, eds. Goldman-Cecil Medicine . 25th ed. Philadelphia, PA: ...

Why infectious diseases.

PubMed

Bartlett, John G

2014-09-15

Infectious diseases is a broad discipline that is almost unique in contemporary medicine with its ability to cure and prevent disease, to identify specific disease causes (microbes), and to deal with diverse, sometimes massive outbreaks. The value of the infectious disease practitioner is now magnified by the crisis of antibiotic resistance, the expanding consequences of international travel, the introduction of completely new pathogen diagnostics, and healthcare reform with emphasis on infection prevention and cost in dollars and lives. Infectious disease careers have great personal rewards to the practitioner based on these observations. It is unfortunate that we have been so effective in our work, but relatively ineffective in convincing the healthcare system of this value. © The Author 2014. Published by Oxford University Press on behalf of the Infectious Diseases Society of America. All rights reserved. For Permissions, please e-mail: journals.permissions@oup.com.

Celiac disease and other autoimmune diseases in patients with collagenous colitis.

PubMed

Vigren, Lina; Tysk, Curt; Ström, Magnus; Kilander, Anders F; Hjortswang, Henrik; Bohr, Johan; Benoni, Cecilia; Larson, Lasse; Sjöberg, Klas

2013-08-01

Collagenous colitis (CC) is associated with autoimmune disorders. The aim of the present study was to investigate the relationship between CC and autoimmune disorders in a Swedish multicenter study. Patients with CC answered questionnaires about demographic data and disease activity. The patient's files were scrutinized for information about autoimmune diseases. A total number of 116 CC patients were included; 92 women, 24 men, median age 62 years (IQR 55-73). In total, 30.2% had one or more autoimmune disorder. Most common were celiac disease (CeD; 12.9%) and autoimmune thyroid disease (ATD, 10.3%), but they also had Sjögren's syndrome (3.4%), diabetes mellitus (1.7%) and conditions in skin and joints (6.0%). Patients with associated autoimmune disease had more often nocturnal stools. The majority of the patients with associated CeD or ATD got these diagnoses before the colitis diagnosis. Autoimmune disorders occurred in one-third of these patients, especially CeD. In classic inflammatory bowel disease (IBD), liver disease is described in contrast to CC where no cases occurred. Instead, CeD was prevalent, a condition not reported in classic IBD. Patients with an associated autoimmune disease had more symptoms. Patients with CC and CeD had an earlier onset of their colitis. The majority of the patients with both CC and CeD were smokers. Associated autoimmune disease should be contemplated in the follow-up of these patients.

Esophageal involvement and interstitial lung disease in mixed connective tissue disease.

PubMed

Fagundes, M N; Caleiro, M T C; Navarro-Rodriguez, T; Baldi, B G; Kavakama, J; Salge, J M; Kairalla, R; Carvalho, C R R

2009-06-01

Mixed connective tissue disease is a systemic inflammatory disorder that results in both pulmonary and esophageal manifestations. We sought to evaluate the relationship between esophageal dysfunction and interstitial lung disease in patients with mixed connective tissue disease. We correlated the pulmonary function data and the high-resolution computed tomography findings of interstitial lung disease with the results of esophageal evaluation in manometry, 24-hour intraesophageal pH measurements, and the presence of esophageal dilatation on computed tomography scan. Fifty consecutive patients with mixed connective tissue disease, according to Kasukawa's classification criteria, were included in this prospective study. High-resolution computed tomography parenchymal abnormalities were present in 39 of 50 patients. Esophageal dilatation, gastroesophageal reflux, and esophageal motor impairment were also very prevalent (28 of 50, 18 of 36, and 30 of 36, respectively). The presence of interstitial lung disease on computed tomography was significantly higher among patients with esophageal dilatation (92% vs. 45%; p<0.01) and among patients with severe motor dysfunction (90% vs. 35%; p<0.001). Although we were not able to prove a causal relationship between esophageal and pulmonary involvement, our series revealed a strong association between esophageal motor dysfunction and interstitial lung disease in patients with mixed connective tissue disease.

About Chronic Kidney Disease

MedlinePlus

... Donate A to Z Health Guide About Chronic Kidney Disease Tweet Share Print Email Chronic kidney disease ( ... about Glomerular Filtration Rate (GFR) What is chronic kidney disease (CKD)? Chronic kidney disease includes conditions that ...

Heart disease - risk factors

MedlinePlus

Heart disease - prevention; CVD - risk factors; Cardiovascular disease - risk factors; Coronary artery disease - risk factors; CAD - risk ... a certain health condition. Some risk factors for heart disease you cannot change, but some you can. ...

Hashimoto's Disease

MedlinePlus

... disease often leads to reduced thyroid function, or hypothyroidism. Hypothyroidism is a disorder that occurs when the thyroid ... Hashimoto’s disease is the most common cause of hypothyroidism in the United States. 1 Read more in ...

Legionnaires' Disease

MedlinePlus

Legionnaires' disease is a type of pneumonia caused by bacteria. You usually get it by breathing in mist from ... spread from person to person. Symptoms of Legionnaires' disease include high fever, chills, a cough, and sometimes ...

Raynaud's Disease

MedlinePlus

Raynaud's disease is a rare disorder of the blood vessels, usually in the fingers and toes. It causes the ... secondary Raynaud's, which is caused by injuries, other diseases, or certain medicines. People in colder climates are ...

Wilson Disease

MedlinePlus

Wilson disease is a rare inherited disorder that prevents your body from getting rid of extra copper. You need ... copper into bile, a digestive fluid. With Wilson disease, the copper builds up in your liver, and ...

Parkinson's Disease

MedlinePlus

Parkinson's disease (PD) is a type of movement disorder. It happens when nerve cells in the brain don't ... coordination As symptoms get worse, people with the disease may have trouble walking, talking, or doing simple ...

Chagas Disease

MedlinePlus

Chagas disease is caused by a parasite. It is common in Latin America but not in the United States. ... nose, the bite wound or a cut. The disease can also spread through contaminated food, a blood ...

Liver disease

MedlinePlus

... Coccidioidomycosis Delta agent (hepatitis D) Drug-induced cholestasis Fatty liver disease Hemochromatosis Hepatitis A Hepatitis B Hepatitis C ... abscess Reye syndrome Sclerosing cholangitis Wilson disease Images Fatty liver, CT scan Liver with disproportional fattening, CT scan ...

Whipple's Disease

MedlinePlus

... function in one or more connecting or supporting structures of the body. celiac disease —a digestive disease that damages the small intestine and interferes with the absorption of nutrients from food. People who have celiac ...

Epigenetics of kidney disease.

PubMed

Wanner, Nicola; Bechtel-Walz, Wibke

2017-07-01

DNA methylation and histone modifications determine renal programming and the development and progression of renal disease. The identification of the way in which the renal cell epigenome is altered by environmental modifiers driving the onset and progression of renal diseases has extended our understanding of the pathophysiology of kidney disease progression. In this review, we focus on current knowledge concerning the implications of epigenetic modifications during renal disease from early development to chronic kidney disease progression including renal fibrosis, diabetic nephropathy and the translational potential of identifying new biomarkers and treatments for the prevention and therapy of chronic kidney disease and end-stage kidney disease.

Vogt-Koyanagi-Harada disease.

PubMed

Burkholder, Bryn M

2015-11-01

The purpose of this article is to review the current literature on Vogt-Koyanagi-Harada (VKH) disease, including current treatment options and new research directions. Recent publications on VKH disease show an increased focus on the immunogenetics and immune pathways associated with the development of VKH disease. There have also been advances in imaging modalities and techniques that may help to better elucidate the disease process in eyes with VKH disease. VKH disease is an autoimmune, multisystem inflammatory disorder, the cause of which is still incompletely understood. Continued research may elucidate the causes and triggers of immune dysregulation in this disease, and in doing so, identify novel therapeutic targets.

Serum prolactin in coeliac disease: a marker for disease activity

PubMed Central

Reifen, R.; Buskila, D.; Maislos, M.; Press, J.; Lerner, A.

1997-01-01

Accepted 21 April 1997
 Prolactin, a polypeptide hormone of anterior pituitary origin, has pronounced physiological effects on growth, reproduction, and osmoregulation. Increasing evidence indicates that prolactin also has an immunomodulatory influence on the immune system. The status of prolactin in patients with coeliac disease was investigated by obtaining serum samples from 48 patients with active and non-active coeliac disease. These were compared with samples from 20 children with familial Mediterranean fever and 65 normal controls. Serum prolactin in patients with active coeliac disease was significantly higher than in the other groups studied and reference values. Serum prolactin correlated well with the degree of mucosal atrophy and with the serum concentration of antiendomysial antibodies. Prolactin may play a part in immune modulation in the intestinal damage of coeliac disease and serve as a potential marker for disease activity.

 PMID:9301358

Disease management.

PubMed Central

Hunter, D. J.; Fairfield, G.

1997-01-01

The disease management approach to patient care seeks to coordinate resources across the healthcare delivery system. The growing interest in evidence based medicine and outcomes, and a commitment to integrated care across the primary, secondary, and community care sectors, all contribute to making disease management an attractive idea. A combination of patient education, provider use of practice guidelines, appropriate consultation, and supplies of drugs and ancillary services all come together in the disease management process. But its effectiveness is largely untested, so evaluation is essential. PMID:9233330

Immunoglobulin G4-related disease: a rare disease with an unusual presentation.

PubMed

Khan, Muhammad Waqas; Hadley, Terrance; Kesler, Melissa; Gul, Zartash

2016-07-01

IgG4-RD can also present in the skeletal muscle, mimicking several other diseases. It is unusual for this relatively new classification of diseases to present in the muscles and can be mistakenly diagnosed as other autoimmune diseases rendering a delay in the appropriate management and progression of the disease.

Celiac Disease Changes Everything

MedlinePlus

... but a true gift. Read More "Celiac Disease" Articles Celiac Disease Changes Everything / What is Celiac Disease? / Symptoms, Diagnosis and Treatment / Four Inches and Seven Pounds… / Learning to Live Well with Celiac Disease / Living Gluten- ...

What Is Celiac Disease?

MedlinePlus

... and saliva are destroyed Read More "Celiac Disease" Articles Celiac Disease Changes Everything / What is Celiac Disease? / Symptoms, Diagnosis and Treatment / Four Inches and Seven Pounds… / Learning to Live Well with Celiac Disease / Living Gluten- ...

A disease state fingerprint for evaluation of Alzheimer's disease.

PubMed

Mattila, Jussi; Koikkalainen, Juha; Virkki, Arho; Simonsen, Anja; van Gils, Mark; Waldemar, Gunhild; Soininen, Hilkka; Lötjönen, Jyrki

2011-01-01

Diagnostic processes of Alzheimer's disease (AD) are evolving. Knowledge about disease-specific biomarkers is constantly increasing and larger volumes of data are being measured from patients. To gain additional benefits from the collected data, a novel statistical modeling and data visualization system is proposed for supporting clinical diagnosis of AD. The proposed system computes an evidence-based estimate of a patient's AD state by comparing his or her heterogeneous neuropsychological, clinical, and biomarker data to previously diagnosed cases. The AD state in this context denotes a patient's degree of similarity to previously diagnosed disease population. A summary of patient data and results of the computation are displayed in a succinct Disease State Fingerprint (DSF) visualization. The visualization clearly discloses how patient data contributes to the AD state, facilitating rapid interpretation of the information. To model the AD state from complex and heterogeneous patient data, a statistical Disease State Index (DSI) method underlying the DSF has been developed. Using baseline data from the Alzheimer's Disease Neuroimaging Initiative (ADNI), the ability of the DSI to model disease progression from elderly healthy controls to AD and its ability to predict conversion from mild cognitive impairment (MCI) to AD were assessed. It was found that the DSI provides well-behaving AD state estimates, corresponding well with the actual diagnoses. For predicting conversion from MCI to AD, the DSI attains performance similar to state-of-the-art reference classifiers. The results suggest that the DSF establishes an effective decision support and data visualization framework for improving AD diagnostics, allowing clinicians to rapidly analyze large quantities of diverse patient data.

Kidney Disease

MedlinePlus

... Staying Safe Videos for Educators Search English Español Kidney Disease KidsHealth / For Teens / Kidney Disease What's in ... Coping With Kidney Conditions Print What Do the Kidneys Do? You might never think much about some ...

Fifth Disease

MedlinePlus

Fifth disease is a viral infection caused by parvovirus B19. The virus only infects humans; it's not the same parvovirus that dogs and cats can get. Fifth disease mostly affects children. Symptoms can include a low ...

Evolutionary history of human disease genes reveals phenotypic connections and comorbidity among genetic diseases

NASA Astrophysics Data System (ADS)

Park, Solip; Yang, Jae-Seong; Kim, Jinho; Shin, Young-Eun; Hwang, Jihye; Park, Juyong; Jang, Sung Key; Kim, Sanguk

2012-10-01

The extent to which evolutionary changes have impacted the phenotypic relationships among human diseases remains unclear. In this work, we report that phenotypically similar diseases are connected by the evolutionary constraints on human disease genes. Human disease groups can be classified into slowly or rapidly evolving classes, where the diseases in the slowly evolving class are enriched with morphological phenotypes and those in the rapidly evolving class are enriched with physiological phenotypes. Our findings establish a clear evolutionary connection between disease classes and disease phenotypes for the first time. Furthermore, the high comorbidity found between diseases connected by similar evolutionary constraints enables us to improve the predictability of the relative risk of human diseases. We find the evolutionary constraints on disease genes are a new layer of molecular connection in the network-based exploration of human diseases.

Evolutionary history of human disease genes reveals phenotypic connections and comorbidity among genetic diseases.

PubMed

Park, Solip; Yang, Jae-Seong; Kim, Jinho; Shin, Young-Eun; Hwang, Jihye; Park, Juyong; Jang, Sung Key; Kim, Sanguk

2012-01-01

The extent to which evolutionary changes have impacted the phenotypic relationships among human diseases remains unclear. In this work, we report that phenotypically similar diseases are connected by the evolutionary constraints on human disease genes. Human disease groups can be classified into slowly or rapidly evolving classes, where the diseases in the slowly evolving class are enriched with morphological phenotypes and those in the rapidly evolving class are enriched with physiological phenotypes. Our findings establish a clear evolutionary connection between disease classes and disease phenotypes for the first time. Furthermore, the high comorbidity found between diseases connected by similar evolutionary constraints enables us to improve the predictability of the relative risk of human diseases. We find the evolutionary constraints on disease genes are a new layer of molecular connection in the network-based exploration of human diseases.

Heart disease and women

MedlinePlus

... NOT consider heart disease a woman's disease. Yet cardiovascular disease is the leading killer of women over age ... gov/pubmed/25070666 . Gulati M, Bairey Merz CN. Cardiovascular disease in women. In: Mann DL, Zipes DP, Libby ...

Heart Disease and Stroke

MedlinePlus

... receive Heart Disease and Stroke email updates Submit Heart Disease and Stroke Heart disease and stroke are important ... Stroke Stroke symptoms Stroke risk factors View more Heart Disease and Stroke resources Related information Heart-healthy eating ...

Undifferentiated Connective Tissue Disease

MedlinePlus

... Home Conditions Undifferentiated Connective Tissue Disease (UCTD) Undifferentiated Connective Tissue Disease (UCTD) Make an Appointment Find a Doctor ... by Barbara Goldstein, MD (February 01, 2016) Undifferentiated connective tissue disease (UCTD) is a systemic autoimmune disease. This ...

Association of maternal chronic disease with risk of congenital heart disease in offspring

PubMed Central

Chou, Hsin-Hsu; Chiou, Meng-Jiun; Liang, Fu-Wen; Chen, Lea-Hua; Lu, Tsung-Hsueh; Li, Chung-Yi

2016-01-01

Background: Information about known risk factors for congenital heart disease is scarce. In this population-based study, we aimed to investigate the relation between maternal chronic disease and congenital heart disease in offspring. Methods: The study cohort consisted of 1 387 650 live births from 2004 to 2010. We identified chronic disease in mothers and mild and severe forms of congenital heart disease in their offspring from Taiwan’s National Health Insurance medical claims. We used multivariable logistic regression analysis to assess the associations of all cases and specific types of congenital heart disease with various maternal chronic diseases. Results: For mothers with the following chronic diseases, the overall prevalence of congenital heart disease in their children was significantly higher than for mothers without these diseases: diabetes mellitus type 1 (adjusted odds ratio [OR] 2.32, 95% confidence interval [CI] 1.66–3.25), diabetes mellitus type 2 (adjusted OR 2.85, 95% CI 2.60–3.12), hypertension (adjusted OR 1.87, 95% CI 1.69–2.07), congenital heart defects (adjusted OR 3.05, 95% CI 2.45–3.80), anemia (adjusted OR 1.31, 95% CI 1.25–1.38), connective tissue disorders (adjusted OR 1.39, 95% CI 1.19–1.62), epilepsy (adjusted OR 1.37, 95% CI 1.08–1.74) and mood disorders (adjusted OR 1.25, 95% CI 1.11–1.41). The same pattern held for mild forms of congenital heart disease. A higher prevalence of severe congenital heart disease was seen only among offspring of mothers with congenital heart defects or type 2 diabetes. Interpretation: The children of women with several kinds of chronic disease appear to be at risk for congenital heart disease. Preconception counselling and optimum treatment of pregnant women with chronic disease would seem prudent. PMID:27729382

Association of maternal chronic disease with risk of congenital heart disease in offspring.

PubMed

Chou, Hsin-Hsu; Chiou, Meng-Jiun; Liang, Fu-Wen; Chen, Lea-Hua; Lu, Tsung-Hsueh; Li, Chung-Yi

2016-12-06

Information about known risk factors for congenital heart disease is scarce. In this population-based study, we aimed to investigate the relation between maternal chronic disease and congenital heart disease in offspring. The study cohort consisted of 1 387 650 live births from 2004 to 2010. We identified chronic disease in mothers and mild and severe forms of congenital heart disease in their offspring from Taiwan's National Health Insurance medical claims. We used multivariable logistic regression analysis to assess the associations of all cases and specific types of congenital heart disease with various maternal chronic diseases. For mothers with the following chronic diseases, the overall prevalence of congenital heart disease in their children was significantly higher than for mothers without these diseases: diabetes mellitus type 1 (adjusted odds ratio [OR] 2.32, 95% confidence interval [CI] 1.66-3.25), diabetes mellitus type 2 (adjusted OR 2.85, 95% CI 2.60-3.12), hypertension (adjusted OR 1.87, 95% CI 1.69-2.07), congenital heart defects (adjusted OR 3.05, 95% CI 2.45-3.80), anemia (adjusted OR 1.31, 95% CI 1.25-1.38), connective tissue disorders (adjusted OR 1.39, 95% CI 1.19-1.62), epilepsy (adjusted OR 1.37, 95% CI 1.08-1.74) and mood disorders (adjusted OR 1.25, 95% CI 1.11-1.41). The same pattern held for mild forms of congenital heart disease. A higher prevalence of severe congenital heart disease was seen only among offspring of mothers with congenital heart defects or type 2 diabetes. The children of women with several kinds of chronic disease appear to be at risk for congenital heart disease. Preconception counselling and optimum treatment of pregnant women with chronic disease would seem prudent. © 2016 Canadian Medical Association or its licensors.

Sexual transmission of Lyme disease: challenging the tickborne disease paradigm.

PubMed

Stricker, Raphael B; Middelveen, Marianne J

2015-01-01

Lyme disease caused by the spirochete Borrelia burgdorferi has become a major worldwide epidemic. In this article, we explore the clinical, epidemiological and experimental evidence for sexual transmission of Lyme disease in animal models and humans. Although the likelihood of sexual transmission of the Lyme spirochete remains speculative, the possibility of Lyme disease transmission via intimate human contact merits further study.

Kawasaki Disease

MedlinePlus

... descent. The disease is more likely to affect boys than girls. Most cases occur in children younger than 5 ... descent. The disease is more likely to affect boys than girls. Most cases occur in children younger than 5 ...

Viral Disease Networks?

NASA Astrophysics Data System (ADS)

Gulbahce, Natali; Yan, Han; Vidal, Marc; Barabasi, Albert-Laszlo

2010-03-01

Viral infections induce multiple perturbations that spread along the links of the biological networks of the host cells. Understanding the impact of these cascading perturbations requires an exhaustive knowledge of the cellular machinery as well as a systems biology approach that reveals how individual components of the cellular system function together. Here we describe an integrative method that provides a new approach to studying virus-human interactions and its correlations with diseases. Our method involves the combined utilization of protein - protein interactions, protein -- DNA interactions, metabolomics and gene - disease associations to build a ``viraldiseasome''. By solely using high-throughput data, we map well-known viral associated diseases and predict new candidate viral diseases. We use microarray data of virus-infected tissues and patient medical history data to further test the implications of the viral diseasome. We apply this method to Epstein-Barr virus and Human Papillomavirus and shed light into molecular development of viral diseases and disease pathways.

National disease management plans for key chronic non-communicable diseases in Singapore.

PubMed

Tan, C C

2002-07-01

In Singapore, chronic, non-communicable diseases, namely coronary heart disease, stroke and cancer, account for more than 60% of all deaths and a high burden of disability and healthcare expenditure. The burden of these diseases is likely to rise with our rapidly ageing population and changing lifestyles, and will present profound challenges to our healthcare delivery and financing systems over the next 20 to 30 years. The containment and optimal management of these conditions require a strong emphasis on patient education and the development of integrated models of healthcare delivery in place of the present uncoordinated, compartmentalised way of delivering healthcare. To meet these challenges, the Ministry of Health's major thrusts are disease control measures which focus mainly on primary prevention; and disease management, which coordinates the national effort to reduce the incidence of these key diseases and their predisposing factors and to ameliorate their long-term impact by optimising control to reduce mortality, morbidity and complications, and improving functional status through rehabilitation. The key initiatives include restructuring of the public sector healthcare institutions into two clusters, each comprising a network of primary health care polyclinics, regional hospitals and tertiary institutions. The functional integration of these healthcare elements within each cluster under a common senior administrative and professional management, and the development of common clinical IT systems will greatly facilitate the implementation of disease management programmes. Secondly, the Ministry is establishing National Disease Registries in coronary heart disease, cancer, stroke, myopia and kidney failure, which will be valuable sources of clinical and outcomes data. Thirdly, in partnership with expert groups, national committees and professional agencies, the Ministry will produce clinical practice guidelines which will assist doctors and healthcare

[Kikuchi-Fujimoto's disease and connective tissue disease: a report of three cases].

PubMed

Frikha, F; Marzouk, S; Frigui, M; Jallouli, M; Kechaou, M; Kaddour, N; Boudawara, T; Jlidi, R; Bahloul, Z

2008-02-01

Kikuchi-Fujimoto's disease or histiocytic necrotizing lymphadenitis, clinicopathological entity of unknown aetiology, is a rare and benign cause of cervical lymphadenopathies. It can be associated with various auto-immune diseases especially systemic lupus erythematous (SLE) or with some infectious agents. This report describes a survey of three patients who developed Kikuchi's lymphadenitis occurring concomitantly with connective tissue disease: LES in two cases and non determined connective tissue disease in the other case. Comparing the clinical, histopathological and evolutionary findings to the literature allows to identify the main features of this self-limiting disorder: occurrence in young women; clinical presentation with cervical lymphadenopathy in a context of fever and asthenia. The definite diagnosis is usually made through histopathological examination of a lymph node biopsy. Disease course is generally favourable with spontaneous resolution within few weeks. It may be improved with corticosteroid treatment in patients with systemic involvement. Prognosis is related to the associated disease. Kikuchi-Fujimoto's disease is a rare and benign cause of cervical lymphadenopathy that could resemble lymphoma, tuberculosis and may be associated with a characterized systemic disease.

Fifth disease

MedlinePlus

Parvovirus B19; Erythema infectiosum; Slapped cheek rash ... Fifth disease is caused by human parvovirus B19. It often affects preschoolers or school-age children during the spring. The disease spreads through the fluids in the nose and mouth ...

[Atherosclerosis in inflammatory diseases].

PubMed

Páramo, José A; Rodríguez, José A; Orbe, Josune

2007-05-19

The recognition that inflammation is a hallmark of atherosclerotic disease and its complications has led to a series of studies reporting high prevalence of atherosclerosis in chronic inflammatory diseases. Indeed, chronic immune diseases, such as systemic lupus erythematosus and rheumatoid arthritis, are associated with proinflammation, accelerated atherosclerosis and increased incidence of cardiovascular disease. Since the susceptibility towards cardiovascular events cannot be explained by classical risk factors, disease-specific pathways have been put forward as additional risk factors, potentially important for future prevention and treatment of atherosclerosis associated with chronic inflammatory diseases.

Acquired Cystic Kidney Disease

MedlinePlus

... care provider about when to begin screening. Eating, Diet, and Nutrition No specific diet will prevent or delay acquired ... Weight Management Liver Disease Urologic Diseases Endocrine Diseases Diet & Nutrition Blood Diseases Diagnostic Tests La información de la ...

The impact of perianal disease in young patients with inflammatory bowel disease.

PubMed

Zwintscher, Nathan P; Shah, Puja M; Argawal, Amit; Chesley, Patrick M; Johnson, Eric K; Newton, Christopher R; Maykel, Justin A; Steele, Scott R

2015-09-01

Perianal disease is a potentially significant source of morbidity for patients with inflammatory bowel disease (IBD). We sought to identify the impact of perianal disease on IBD outcomes in children, adolescents, and young adults. We studied 12,465 inpatient admissions for patients ≤20 years old with IBD in 2009 using the Kids' Inpatient Database (KID). Patients were stratified by their principal diagnosis of ulcerative colitis (UC) or Crohn's disease (CD). Perianal disease (perianal abscess, anal fissure, or anal fistula), complex fistulas (rectourethral, rectovaginal, or enterovesical), and growth failure were defined by ICD-9 codes. Logistic regression was performed adjusting for CD or UC, gender, age, need for surgical intervention, fistulas, or growth failure. Of the 511 (4.1%) patients with perianal disease, 480 had CD (94%, p < 0.001). Girls were less likely to suffer perianal disease (OR = 0.63, CI 0.52-0.76, p < 0.001). Those with perianal disease were more likely to suffer complex fistulas (OR = 3.5, CI 1.98-6.20, p < 0.001) but less likely to suffer enteroenteral fistulas (OR = 0.30, CI 0.15-0.63, p = 0.001) than those without perianal disease. Perianal disease did not increase the incidence of growth failure (p = 0.997) but doubled the likelihood of an operation of any type during admission (p < 0.001). Additionally, patients with perianal disease spent on average 1.29 more days in the hospital (7.45 vs. 6.16 days, p < 0.001) and accrued $5838 extra in hospital charges (p = 0.005). Perianal disease in younger patients is associated with a longer length of stay, higher hospital charges, and increased rates of both perineal and abdominal operative procedures. These data support the notion that, similar to adults, the presence of perianal disease in pediatric Crohn's patients is associated with a more severe course.

E-Learning for Rare Diseases: An Example Using Fabry Disease.

PubMed

Cimmaruta, Chiara; Liguori, Ludovica; Monticelli, Maria; Andreotti, Giuseppina; Citro, Valentina

2017-09-24

Rare diseases represent a challenge for physicians because patients are rarely seen, and they can manifest with symptoms similar to those of common diseases. In this work, genetic confirmation of diagnosis is derived from DNA sequencing. We present a tutorial for the molecular analysis of a rare disease using Fabry disease as an example. An exonic sequence derived from a hypothetical male patient was matched against human reference data using a genome browser. The missense mutation was identified by running BlastX, and information on the affected protein was retrieved from the database UniProt. The pathogenic nature of the mutation was assessed with PolyPhen-2. Disease-specific databases were used to assess whether the missense mutation led to a severe phenotype, and whether pharmacological therapy was an option. An inexpensive bioinformatics approach is presented to get the reader acquainted with the diagnosis of Fabry disease. The reader is introduced to the field of pharmacological chaperones, a therapeutic approach that can be applied only to certain Fabry genotypes. The principle underlying the analysis of exome sequencing can be explained in simple terms using web applications and databases which facilitate diagnosis and therapeutic choices.

Treatment inferred disease severity in Crohn's disease: evidence for a European gradient of disease course.

PubMed

Wolters, Frank L; Joling, Catelijne; Russel, Maurice G; Sijbrandij, Jildou; De Bruin, Marion; Odes, Selwyn; Riis, Lene; Munkholm, Pia; Bodini, Paolo; Ryan, Barbara; O'Morain, Colm; Mouzas, Ioannis A; Tsianos, Epameinondas; Vermeire, Severine; Monteiro, Estela; Limonard, Charles; Vatn, Morten; Fornaciari, Giovanni; Rodriguez, Dolores; Groot, Wim; Moum, Bjørn; Stockbrügger, Reinhold W

2007-03-01

Geographic differences in disease course of Crohn's disease (CD) might possibly be related to differences in genetic and environmental factors encountered in different parts of the world. The aim of this study was to assess differences in treatment regimens within a European cohort of CD patients as a reflection of disease course, and to identify associated phenotypic risk factors at diagnosis. A prospective European population-based inception cohort of 380 CD patients was studied. The patients were classified for phenotype according to the Vienna classification. Differences between Northern and Southern European centres in treatment over the first 10 years of disease were analysed using a competing risks survival analysis method. Patients in the North were more likely to have had surgery (p<0.01), whereas patients in the South were more likely to have been treated medically (p<0.01). Phenotype at diagnosis was not predictive of differences in treatment regimens between North and South. In this study, a difference in management of CD was observed between Northern and Southern European centres. This suggests that there may be a North-South disease severity gradient across Europe. Phenotypic differences between patients in the North and South did not explain this observed difference.

HIV and Cardiovascular Disease

MedlinePlus

... Select a Language: Fact Sheet 652 HIV and Cardiovascular Disease HIV AND CARDIOVASCULAR DISEASE WHY SHOULD PEOPLE WITH HIV CARE ABOUT CVD? ... OF CVD? WHAT ABOUT CHANGING MEDICATIONS? HIV AND CARDIOVASCULAR DISEASE Cardiovascular disease (CVD) includes a group of problems ...

Newcastle disease in poultry (Avian pneumoencephalitis, Exotic or velogenic Newcastle disease)

USDA-ARS?s Scientific Manuscript database

Newcastle disease (ND) is an infection of domestic poultry and other bird species with virulent Newcastle disease virus (vNDV). It is a worldwide problem that presents primarily as an acute respiratory disease, but depression, nervous manifestations, or diarrhea may be the predominant clinical form...

Emerging zoonotic viral diseases.

PubMed

Wang, L-F; Crameri, G

2014-08-01

Zoonotic diseases are infectious diseases that are naturally transmitted from vertebrate animals to humans and vice versa. They are caused by all types of pathogenic agents, including bacteria, parasites, fungi, viruses and prions. Although they have been recognised for many centuries, their impact on public health has increased in the last few decades due to a combination of the success in reducing the spread of human infectious diseases through vaccination and effective therapies and the emergence of novel zoonotic diseases. It is being increasingly recognised that a One Health approach at the human-animal-ecosystem interface is needed for effective investigation, prevention and control of any emerging zoonotic disease. Here, the authors will review the drivers for emergence, highlight some of the high-impact emerging zoonotic diseases of the last two decades and provide examples of novel One Health approaches for disease investigation, prevention and control. Although this review focuses on emerging zoonotic viral diseases, the authors consider that the discussions presented in this paper will be equally applicable to emerging zoonotic diseases of other pathogen types.

Miscellaneous bacterial diseases

USGS Publications Warehouse

Friend, M.

1999-01-01

Disease in free-ranging birds is caused by many other pathogenic bacteria in addition to those illustrated within this section. These other diseases are currently considered less important because of their infrequent occurrence, the small numbers of birds generally lost annually, or because they primarily result from infection by opportunistic pathogens and they require concurrent disease processes for them to become apparent. The following brief highlights about the more important of these diseases are included to acquaint readers with their existence and provide some basic information about their ecology.

The link between chronic kidney disease and cardiovascular disease.

PubMed

Said, Sarmad; Hernandez, German T

2014-07-01

It is well known that patients with chronic kidney disease (CKD) have a strong risk of cardiovascular disease (CVD). However, the excess risk of cardiovascular disease in patients with CKD is only partially explained by the presence of traditional risk factors, such as hypertension and diabetes mellitus. Directory of Open Access Journals (DOAJ), Google Scholar, PubMed, EBSCO and Web of Science has been searched. Chronic kidney disease even in its early stages can cause hypertension and potentiate the risk for cardiovascular disease. However, the practice of intensive blood pressure lowering was criticized in recent systematic reviews. Available evidence is inconclusive but does not prove that a blood pressure target of less than 130/80 mmHg as recommended in the guidelines improves clinical outcomes more than a target of less than 140/90 mmHg in adults with CKD. The association between CKD and CVD has been extensively documented in the literature. Both CKD and CVD share common traditional risk factors, such as smoking, obesity, hypertension, diabetes mellitus, and dyslipidemia. However, cardiovascular disease remains often underdiagnosed und undertreated in patients with CKD. It is imperative that as clinicians, we recognize that patients with CKD are a group at high risk for developing CVD and cardiovascular events. Additional studies devoted to further understand the risk factors for CVD in patients with CKD are necessary to develop and institute preventative and treatment strategies to reduce the high morbidity and mortality in patients with CKD.

Menopause and Rheumatic Disease.

PubMed

Talsania, Mitali; Scofield, Robert Hal

2017-05-01

Menopause occurs naturally in women at about 50 years of age. There is a wealth of data concerning the relationship of menopause to systemic lupus erythematosus, rheumatoid arthritis, and osteoarthritis; there are limited data concerning other rheumatic diseases. Age at menopause may affect the risk and course of rheumatic diseases. Osteoporosis, an integral part of inflammatory rheumatic diseases, is made worse by menopause. Hormone replacement therapy has been studied; its effects vary depending on the disease and even different manifestations within the same disease. Cyclophosphamide can induce early menopause, but there is underlying decreased ovarian reserve in rheumatic diseases. Published by Elsevier Inc.

Disease Compass- a navigation system for disease knowledge based on ontology and linked data techniques.

PubMed

Kozaki, Kouji; Yamagata, Yuki; Mizoguchi, Riichiro; Imai, Takeshi; Ohe, Kazuhiko

2017-06-19

Medical ontologies are expected to contribute to the effective use of medical information resources that store considerable amount of data. In this study, we focused on disease ontology because the complicated mechanisms of diseases are related to concepts across various medical domains. The authors developed a River Flow Model (RFM) of diseases, which captures diseases as the causal chains of abnormal states. It represents causes of diseases, disease progression, and downstream consequences of diseases, which is compliant with the intuition of medical experts. In this paper, we discuss a fact repository for causal chains of disease based on the disease ontology. It could be a valuable knowledge base for advanced medical information systems. We developed the fact repository for causal chains of diseases based on our disease ontology and abnormality ontology. This section summarizes these two ontologies. It is developed as linked data so that information scientists can access it using SPARQL queries through an Resource Description Framework (RDF) model for causal chain of diseases. We designed the RDF model as an implementation of the RFM for the fact repository based on the ontological definitions of the RFM. 1554 diseases and 7080 abnormal states in six major clinical areas, which are extracted from the disease ontology, are published as linked data (RDF) with SPARQL endpoint (accessible API). Furthermore, the authors developed Disease Compass, a navigation system for disease knowledge. Disease Compass can browse the causal chains of a disease and obtain related information, including abnormal states, through two web services that provide general information from linked data, such as DBpedia, and 3D anatomical images. Disease Compass can provide a complete picture of disease-associated processes in such a way that fits with a clinician's understanding of diseases. Therefore, it supports user exploration of disease knowledge with access to pertinent information

Inflammatory Mechanisms Linking Periodontal Diseases to Cardiovascular Diseases

PubMed Central

Schenkein, Harvey A.; Loos, Bruno G.

2015-01-01

Aims In this paper, inflammatory mechanisms that link periodontal diseases to cardiovascular diseases (CVD) are reviewed. Materials and Methods and Results This paper is a literature review. Studies in the literature implicate a number of possible mechanisms that could be responsible for increased inflammatory responses in atheromatous lesions due to periodontal infections. These include increased systemic levels of inflammatory mediators stimulated by bacteria and their products at sites distant from the oral cavity, elevated thrombotic and hemostatic markers that promote a prothrombotic state and inflammation, cross-reactive systemic antibodies that promote inflammation and interact with the atheroma, promotion of dyslipidemia with consequent increases in proinflammatory lipid classes and subclasses, and common genetic susceptibility factors present in both disease leading to increased inflammatory responses. Conclusions Such mechanisms may be thought to act in concert to increase systemic inflammation in periodontal disease and to promote or exacerbate atherogenesis. However, proof that the increase in systemic inflammation attributable to periodontitis impacts inflammatory responses during atheroma development, thrombotic events, or myocardial infarction or stroke is lacking. PMID:23627334

Prevalence of inflammatory bowel disease among coeliac disease patients in a Hungarian coeliac centre.

PubMed

Kocsis, Dorottya; Tóth, Zsuzsanna; Csontos, Ágnes A; Miheller, Pál; Pák, Péter; Herszényi, László; Tóth, Miklós; Tulassay, Zsolt; Juhász, Márk

2015-10-19

Celiac disease, Crohn disease and ulcerative colitis are inflammatory disorders of the gastrointestinal tract with some common genetic, immunological and environmental factors involved in their pathogenesis. Several research shown that patients with celiac disease have increased risk of developing inflammatory bowel disease when compared with that of the general population. The aim of this study is to determine the prevalence of inflammatory bowel disease in our celiac patient cohort over a 15-year-long study period. To diagnose celiac disease, serological tests were used, and duodenal biopsy samples were taken to determine the degree of mucosal injury. To set up the diagnosis of inflammatory bowel disease, clinical parameters, imaging techniques, colonoscopy histology were applied. DEXA for measuring bone mineral density was performed on every patient. In our material, 8/245 (3,2 %) coeliac disease patients presented inflammatory bowel disease (four males, mean age 37, range 22-67), 6/8 Crohn's disease, and 2/8 ulcerative colitis. In 7/8 patients the diagnosis of coeliac disease was made first and inflammatory bowel disease was identified during follow-up. The average time period during the set-up of the two diagnosis was 10,7 years. Coeliac disease serology was positive in all cases. The distribution of histology results according to Marsh classification: 1/8 M1, 2/8 M2, 3/8 M3a, 2/8 M3b. The distribution according to the Montreal classification: 4/6 Crohn's disease patients are B1, 2/6 Crohn's disease patients are B2, 2/2 ulcerative colitis patients are S2. Normal bone mineral density was detected in 2/8 case, osteopenia in 4/8 and osteoporosis in 2/8 patients. Within our cohort of patients with coeliac disease, inflammatory bowel disease was significantly more common (3,2 %) than in the general population.

[The disease burden of cardiovascular and circulatory diseases in China, 1990 and 2010].

PubMed

Liu, Jiangmei; Liu, Yunning; Wang, Lijun; Yin, Peng; Liu, Shiwei; You, Jinling; Zeng, Xinying; Zhou, Maigeng

2015-04-01

To analyze the death status of disease burden of cardiovascular and circulatory diseases in 1990 and 2010 in China, and to provide the basic information for cardiovascular and circulatory disease prevention and control. Using the results of the Global Burden of Diseases Study 2010 (GBD 2010) to describe the cardiovascular and circulatory diseases deaths status and disease burden in China. The measurement index included the mortality, years of life lost due to premature mortality (YLL), years lived with disability (YLD), and disability-adjusted life years (DALY). At the same time, we used the population from 2010 national census as standard population to calculate the age-standardized mortality rate and DALY rate, YLL rate and YLD rates which will describe the mortality status and disease burden of total and different types of cardiovascular disease. We also calculated the change in 1990 and 2010 for all indexes, to describe the change of the burden of disease in the 20 years. In 2010, the total deaths of cardiovascular and circulatory diseases reached 3.136 2 million, the mortality rate reached 233.70 per 100 000 people and the age-standardized mortality rate was 256.90 per 100 000 people. The total DALYs, YLLs, and YLDs of cardiovascular and circulatory diseases reached 58.2055, 54.0488, and 4.1568 million person-years, respectively, and the age-standardized DALY rate, YLL rate and YLD rate were 4 639.04, 4 313.13, 325.91 per 100 000. In 1990, the deaths only 2.1675 million and the DALYs, YLLs and YLDs were 45.2679, 42.2922, and 2.9757 million person-years. The age-standardized mortality rate was 300.30 per 100 000 people. And the age-standardized DALY rate, YLL rate and YLD rate were 5 872.58, 5 523.42 and 349.16 per 100 000. Compared with the result in 1990, the total deaths, DALYs, YLLs, and YLDs were increased 44.72%, 28.58%, 27.80%, and 39.68%, respectively, while the age-standardized mortality rate, age-standardized DALY rate, age-standardized YLL rate, and

Dupuytren disease: an evolving understanding of an age-old disease.

PubMed

Black, Eric M; Blazar, Philip E

2011-12-01

Dupuytren disease, a clinical entity originally described more than 400 years ago, is a progressive disease of genetic origin. Excessive myofibroblast proliferation and altered collagen matrix composition lead to thickened and contracted palmar fascia; the resultant digital flexion contractures may severely limit function. The pathophysiology is multifactorial and remains a topic of research and debate. Genetic predisposition, trauma, inflammatory response, ischemia, and environment, as well as variable expression of proteins and growth factors within the local tissue, all play a role in the disease process. Common treatments of severe disease include open fasciectomy or fasciotomy. These procedures may be complicated by the complex anatomic relationships between cords (pathologic contracted fascia) and adjacent neurovascular structures. Recent advances in the management of Dupuytren disease involve less invasive treatments, such as percutaneous needle fasciotomy and injectable collagenase Clostridium histolyticum. Postoperative management focuses on minimizing the cellular response of cord disruption and maximizing range of motion through static or dynamic extension splinting.

Pharmacological treatments and infectious diseases in pediatric inflammatory bowel disease.

PubMed

Dipasquale, Valeria; Romano, Claudio

2018-03-01

The incidence of pediatric inflammatory bowel disease (IBD) is rising, as is the employment of immunosuppressive and biological drugs. Most patients with IBD receive immunosuppressive therapies during the course of the disease. These molecules are a double-edged sword; while they can help control disease activity, they also increase the risk of infections. Therefore, it is important that pediatricians involved in primary care, pediatric gastroenterologists, and infectious disease physicians have a thorough knowledge of the infections that can affect patients with IBD. Areas covered: A broad review of the major infectious diseases that have been reported in children and adolescents with IBD was performed, and information regarding surveillance, diagnosis and management were updated. The possible correlations with IBD pharmacological tools are discussed. Expert commentary: Opportunistic infections are possible in pediatric IBD, and immunosuppressive and immunomodulator therapy seems to play a causative role. Heightened awareness and vigilant surveillance leading to prompt diagnosis and treatment are important for optimal management.

Gastro-esophageal reflux disease and exacerbations in chronic obstructive pulmonary disease.

PubMed

Ingebrigtsen, Truls S; Marott, Jacob L; Vestbo, Jørgen; Nordestgaard, Børge G; Hallas, Jesper; Lange, Peter

2015-01-01

We tested the hypothesis that gastro-esophageal reflux disease is a risk factor for exacerbations in individuals with chronic obstructive pulmonary disease (COPD). Among 9622 participants in the Copenhagen City Heart Study, we identified 1259 individuals with COPD and information on gastro-esophageal reflux disease and the regular use of acid inhibitory treatment. These individuals were followed for 5 years with regard to medically treated COPD exacerbations, which we defined as a short course treatment with oral corticosteroids alone or in combination with antibiotics. We applied a multivariable Cox regression analysis with adjustment for well-established risk factors associated with COPD exacerbations or gastro-esophageal reflux disease, including COPD severity, and symptoms. Individuals with COPD and gastro-esophageal reflux disease had more chronic bronchitis (31 vs 21%, P = 0.004), more breathlessness (39 vs 22%, P < 0.001), and more of them had a history of respiratory infections (6.8 vs 1.4%, P < 0.001) than individuals with COPD but without gastro-esophageal reflux disease. Among individuals with COPD and gastro-esophageal reflux disease, those who did not use acid inhibitory treatment regularly had an increased risk of COPD exacerbations during follow-up, hazards ratio (HR): HR = 2.7 (1.3-5.4, P = 0.006). Individuals with gastro-esophageal reflux disease, using acid inhibitory treatment regularly did not have an increased risk of exacerbations, HR = 1.2 (0.6-2.7, P = 0.63). Gastro-esophageal reflux disease was associated with an increased risk of medically treated exacerbations of COPD, but only in those individuals who did not use acid inhibitory treatment regularly. © 2014 Asian Pacific Society of Respirology.

Crohn's disease.

PubMed

von Roon, Alexander C; Reese, George E; Orchard, Timothy R; Tekkis, Paris P

2007-11-07

Crohn's disease is a long-term chronic condition of the gastrointestinal tract. It is characterised by transmural, granulomatous inflammation that occurs in a discontinuous pattern, with a tendency to form fistulae. The cause is unknown but may depend on interactions between genetic predisposition, environmental triggers, and mucosal immunity. We conducted a systematic review and aimed to answer the following clinical questions: What are the effects of medical treatments in adults to induce remission in Crohn's disease? What are the effects of lifestyle interventions in adults with Crohn's disease to maintain remission? What are the effects of surgical interventions in adults with small-bowel Crohn's disease to induce remission? What are the effects of surgical interventions in adults with colonic Crohn's disease to induce remission? What are the effects of medical interventions to maintain remission in adults with Crohn's disease; and to maintain remission following surgery? We searched: Medline, Embase, The Cochrane Library and other important databases up to March 2006 (Clinical Evidence reviews are updated periodically, please check our website for the most up-to-date version of this review). We included harms alerts from relevant organisations such as the US Food and Drug Administration (FDA) and the UK Medicines and Healthcare products Regulatory Agency (MHRA). We found 60 systematic reviews, RCTs, or observational studies that met our inclusion criteria. In this systematic review we present information relating to the effectiveness and safety of the following interventions: aminosalicylates, antibiotics, azathioprine/mercaptopurine, ciclosporin, corticosteroids (oral), enteral nutrition, fish oil, infliximab, methotrexate, probiotics, resection, segmental colectomy, smoking cessation, and strictureplasty.

Crohn's disease.

PubMed

Mills, Sarah C; von Roon, Alexander C; Tekkis, Paris P; Orchard, Timothy R

2011-04-27

Crohn's disease is a chronic condition of the gastrointestinal tract. It is characterised by transmural, granulomatous inflammation that occurs in a discontinuous pattern, with a tendency to form fistulae. The cause is unknown but may depend on interactions between genetic predisposition, environmental triggers, and mucosal immunity. We conducted a systematic review and aimed to answer the following clinical questions: What are the effects of medical treatments to induce remission in adults with Crohn's disease? What are the effects of surgical interventions to induce and maintain remission in adults with small-bowel Crohn's disease? What are the effects of surgical interventions to induce remission in adults with colonic Crohn's disease? What are the effects of medical interventions to maintain remission in adults with Crohn's disease; and to maintain remission following surgery? What are the effects of lifestyle interventions to maintain remission in adults with Crohn's disease? We searched: Medline, Embase, The Cochrane Library, and other important databases up to December 2009 (Clinical Evidence reviews are updated periodically, please check our website for the most up-to-date version of this review). We included harms alerts from relevant organisations such as the US Food and Drug Administration (FDA) and the UK Medicines and Healthcare products Regulatory Agency (MHRA). We found 93 systematic reviews, RCTs, or observational studies that met our inclusion criteria. In this systematic review we present information relating to the effectiveness and safety of the following interventions: aminosalicylates, antibiotics, azathioprine/mercaptopurine, ciclosporin, corticosteroids (oral), enteral nutrition, fish oil, infliximab, methotrexate, probiotics, resection, segmental colectomy, smoking cessation, and strictureplasty.

Crohn's disease.

PubMed

Mills, Sarah C; von Roon, Alexander C; Tekkis, Paris P; Orchard, Timothy R

2010-11-30

Crohn's disease is a chronic condition of the gastrointestinal tract. It is characterised by transmural, granulomatous inflammation that occurs in a discontinuous pattern, with a tendency to form fistulae. The cause is unknown but may depend on interactions between genetic predisposition, environmental triggers, and mucosal immunity. We conducted a systematic review and aimed to answer the following clinical questions: What are the effects of medical treatments to induce remission in adults with Crohn's disease? What are the effects of surgical interventions to induce and maintain remission in adults with small-bowel Crohn's disease? What are the effects of surgical interventions to induce remission in adults with colonic Crohn's disease? What are the effects of medical interventions to maintain remission in adults with Crohn's disease; and to maintain remission following surgery? What are the effects of lifestyle interventions to maintain remission in adults with Crohn's disease? We searched: Medline, Embase, The Cochrane Library, and other important databases up to December 2009 (Clinical Evidence reviews are updated periodically, please check our website for the most up-to-date version of this review). We included harms alerts from relevant organisations such as the US Food and Drug Administration (FDA) and the UK Medicines and Healthcare products Regulatory Agency (MHRA). We found 93 systematic reviews, RCTs, or observational studies that met our inclusion criteria. In this systematic review we present information relating to the effectiveness and safety of the following interventions: aminosalicylates, antibiotics, azathioprine/mercaptopurine, ciclosporin, corticosteroids (oral), enteral nutrition, fish oil, infliximab, methotrexate, probiotics, resection, segmental colectomy, smoking cessation, and strictureplasty.

Physical activity and autoimmune diseases: Get moving and manage the disease.

PubMed

Sharif, Kassem; Watad, Abdulla; Bragazzi, Nicola Luigi; Lichtbroun, Micheal; Amital, Howard; Shoenfeld, Yehuda

2018-01-01

Physical activity, by definition, is any skeletal muscle body movement that results in energy expenditure. In the last few decades, a plethora of scientific evidences have accumulated and confirmed the beneficial role of physical activity as a modifiable risk factor for a wide variety of chronic diseases including cardiovascular diseases (CVDs), diabetes mellitus and cancer, among others. Autoimmune diseases are a heterogeneous group of chronic diseases, which occur secondary to loss of self-antigen tolerance. With the advent of biological therapies, better outcomes have recently been noted in the management of autoimmune diseases. Nonetheless, recent research highlights the salient role of modifiable behaviors such as physical inactivity on various aspects of the immune system and autoimmune diseases. Physical activity leads to a significant elevation in T-regulatory cells, decreased immunoglobulin secretion and produces a shift in the Th1/Th2 balance to a decreased Th1 cell production. Moreover, physical activity has been proven to promote the release of IL-6 from muscles. IL-6 released from muscles functions as a myokine and has been shown to induce an anti-inflammatory response through IL-10 secretion and IL-1β inhibition. Physical activity has been shown to be safe in most of autoimmune diseases including systemic lupus erythematosus (SLE), rheumatoid arthritis (RA), multiple sclerosis (MS), inflammatory bowel diseases (IBD), as well as others. Additionally, the incidence of RA, MS, IBD and psoriasis has been found to be higher in patients less engaged in physical activity. As a general trend, patients with autoimmune diseases tend to be less physically active as compared to the general population. Physically active RA patients were found to have a milder disease course, better cardiovascular disease (CVD) profile, and improved joint mobility. Physical activity decreases fatigue, enhances mood, cognitive abilities and mobility in patients with MS. In SLE

Prediction of disease course in inflammatory bowel diseases.

PubMed

Lakatos, Peter Laszlo

2010-06-07

Clinical presentation at diagnosis and disease course of both Crohn's disease (CD) and ulcerative colitis are heterogeneous and variable over time. Since most patients have a relapsing course and most CD patients develop complications (e.g. stricture and/or perforation), much emphasis has been placed in the recent years on the determination of important predictive factors. The identification of these factors may eventually lead to a more personalized, tailored therapy. In this TOPIC HIGHLIGHT series, we provide an update on the available literature regarding important clinical, endoscopic, fecal, serological/routine laboratory and genetic factors. Our aim is to assist clinicians in the everyday practical decision-making when choosing the treatment strategy for their patients suffering from inflammatory bowel diseases.

[Knowledge of vector-borne diseases (dengue, rickettsiosis and Chagas disease) in physicians].

PubMed

Lugo-Caballero, César I; Dzul-Rosado, Karla; Dzul-Tut, Irving; Balam-May, Ángel; Zavala-Castro, Jorge

2017-01-01

The ecological conditions of Yucatan made it a suitable region for the acquisition of vector-borne diseases such as dengue, rickettsiosis, and Chagas disease. As the epidemiological burden of these diseases shows an alarming increase of severe cases, the early establishment of diagnosis and therapeutics by first-contact physicians is a critical step that is not being fulfilled due to several reasons, including poor knowledge. To determine the level of knowledge related to dengue, Chagas disease, and rickettsiosis among rural first-contact physicians of Yucatan. A survey was applied to 90 first-contact physicians from rural clinics of Yucatan, which included 32 items related to the diagnosis, treatment, and prevention of dengue, rickettsiosis, and Chagas disease. Answers were analyzed by central tendency statistics. Differences were observed among every category, however; diagnosis and therapeutics showed the lower values. Globally, 62.5% of respondents showed moderate knowledge, 37.5% poor knowledge, and 0% adequate knowledge. Results suggest that a strong campaign for a continuous diffusion of knowledge regarding these diseases is needed. In regions with high prevalence of these kinds of diseases, like Yucatan, the impact of these results on the epidemiological burden of these diseases must be evaluated.

Prevalence of celiac disease in siblings of Iranian patients with celiac disease.

PubMed

Chomeili, Bashir; Aminzadeh, Majid; Hardani, Amir Kamal; Fathizadeh, Payam; Chomeili, Pooya; Azaran, Azarakhsh

2011-01-01

Celiac disease, one of the best-known autoimmune human leukocyte antigen-dependent disorders, has a relatively increased prevalence in first-degree relatives. To determine the prevalence of celiac disease in siblings of patients with confirmed celiac disease. Siblings of confirmed celiac disease patients in our center were identified and enrolled in this study. Their serum immunoglobulin A and tissue transglutaminase antibody-enzyme-linked immunosorbent assay (anti-tissue transglutaminase, immunoglobulin A, and immunoglobulin G) were measured and multiple endoscopic duodenal biopsy specimens were obtained with parental consensus. Celiac disease was confirmed by observation of characteristic histological changes. A total of 49 children (male, 29; female, 20; age, 2-16 years) with confirmed celiac disease in a pediatric gastroenterology ward were studied from 1999 to 2006. We found 30 siblings (female, 16) all shared in both parents. The only measurement available was for immunoglobulin A tissue transglutaminase antibody. A duodenal biopsy was performed in all 30 siblings. Clinical findings such as abdominal pain, fatigue, growth retardation and diarrhea were found in 53.3% of the completely studied siblings, and positive serology without histological changes was identified in four cases. Both serology and biopsy (confirmed new cases) were positive in 2 of the 30 siblings. High prevalence of celiac disease among siblings of patients with confirmed celiac disease necessitates serologic screening (and confirmatory biopsy if indicated) in families having celiac disease. It is advantageous to diagnose the disease as soon as possible because early diagnosis and diet intervention may prevent serious complications such as growth retardation, short stature, chronic diarrhea, and malignancy.

Connected speech as a marker of disease progression in autopsy-proven Alzheimer's disease.

PubMed

Ahmed, Samrah; Haigh, Anne-Marie F; de Jager, Celeste A; Garrard, Peter

2013-12-01

Although an insidious history of episodic memory difficulty is a typical presenting symptom of Alzheimer's disease, detailed neuropsychological profiling frequently demonstrates deficits in other cognitive domains, including language. Previous studies from our group have shown that language changes may be reflected in connected speech production in the earliest stages of typical Alzheimer's disease. The aim of the present study was to identify features of connected speech that could be used to examine longitudinal profiles of impairment in Alzheimer's disease. Samples of connected speech were obtained from 15 former participants in a longitudinal cohort study of ageing and dementia, in whom Alzheimer's disease was diagnosed during life and confirmed at post-mortem. All patients met clinical and neuropsychological criteria for mild cognitive impairment between 6 and 18 months before converting to a status of probable Alzheimer's disease. In a subset of these patients neuropsychological data were available, both at the point of conversion to Alzheimer's disease, and after disease severity had progressed from the mild to moderate stage. Connected speech samples from these patients were examined at later disease stages. Spoken language samples were obtained using the Cookie Theft picture description task. Samples were analysed using measures of syntactic complexity, lexical content, speech production, fluency and semantic content. Individual case analysis revealed that subtle changes in language were evident during the prodromal stages of Alzheimer's disease, with two-thirds of patients with mild cognitive impairment showing significant but heterogeneous changes in connected speech. However, impairments at the mild cognitive impairment stage did not necessarily entail deficits at mild or moderate stages of disease, suggesting non-language influences on some aspects of performance. Subsequent examination of these measures revealed significant linear trends over the

Armillaria Root Disease

Treesearch

R.E. Williams; C.G. III Shaw; P.M. Wargo; W.H. Sites

1986-01-01

Armillaria root disease is found throughout temperate and tropical regions of the world. In the continental United States, the disease has been reported in nearly every State. Hosts include hundreds of species of trees, shrubs, vines, and forbs growing in forests, along roadsides, and in cultivated areas. The disease is caused by fungi, which live as parasites on...

Disease progression and neuroscience.

PubMed

Holford, Nick

2013-06-01

The concepts of disease progression are discussed in the context of neurological disorders. The importance of understanding the time course of the response to inactive (placebo) treatment is discussed. Disease progression and response to placebo treatment both need to be considered before drug effects can be reliably identified. Criteria for distinguishing between symptomatic and disease modifying drug effects are proposed and used to interpret the results of clinical trials in pain, depression, schizophrenia, stroke, Alzheimer's disease and Parkinson's disease.

NCBI disease corpus: a resource for disease name recognition and concept normalization.

PubMed

Doğan, Rezarta Islamaj; Leaman, Robert; Lu, Zhiyong

2014-02-01

Information encoded in natural language in biomedical literature publications is only useful if efficient and reliable ways of accessing and analyzing that information are available. Natural language processing and text mining tools are therefore essential for extracting valuable information, however, the development of powerful, highly effective tools to automatically detect central biomedical concepts such as diseases is conditional on the availability of annotated corpora. This paper presents the disease name and concept annotations of the NCBI disease corpus, a collection of 793 PubMed abstracts fully annotated at the mention and concept level to serve as a research resource for the biomedical natural language processing community. Each PubMed abstract was manually annotated by two annotators with disease mentions and their corresponding concepts in Medical Subject Headings (MeSH®) or Online Mendelian Inheritance in Man (OMIM®). Manual curation was performed using PubTator, which allowed the use of pre-annotations as a pre-step to manual annotations. Fourteen annotators were randomly paired and differing annotations were discussed for reaching a consensus in two annotation phases. In this setting, a high inter-annotator agreement was observed. Finally, all results were checked against annotations of the rest of the corpus to assure corpus-wide consistency. The public release of the NCBI disease corpus contains 6892 disease mentions, which are mapped to 790 unique disease concepts. Of these, 88% link to a MeSH identifier, while the rest contain an OMIM identifier. We were able to link 91% of the mentions to a single disease concept, while the rest are described as a combination of concepts. In order to help researchers use the corpus to design and test disease identification methods, we have prepared the corpus as training, testing and development sets. To demonstrate its utility, we conducted a benchmarking experiment where we compared three different

HGPEC: a Cytoscape app for prediction of novel disease-gene and disease-disease associations and evidence collection based on a random walk on heterogeneous network.

PubMed

Le, Duc-Hau; Pham, Van-Huy

2017-06-15

Finding gene-disease and disease-disease associations play important roles in the biomedical area and many prioritization methods have been proposed for this goal. Among them, approaches based on a heterogeneous network of genes and diseases are considered state-of-the-art ones, which achieve high prediction performance and can be used for diseases with/without known molecular basis. Here, we developed a Cytoscape app, namely HGPEC, based on a random walk with restart algorithm on a heterogeneous network of genes and diseases. This app can prioritize candidate genes and diseases by employing a heterogeneous network consisting of a network of genes/proteins and a phenotypic disease similarity network. Based on the rankings, novel disease-gene and disease-disease associations can be identified. These associations can be supported with network- and rank-based visualization as well as evidences and annotations from biomedical data. A case study on prediction of novel breast cancer-associated genes and diseases shows the abilities of HGPEC. In addition, we showed prominence in the performance of HGPEC compared to other tools for prioritization of candidate disease genes. Taken together, our app is expected to effectively predict novel disease-gene and disease-disease associations and support network- and rank-based visualization as well as biomedical evidences for such the associations.

Kawasaki Disease

MedlinePlus

... is to relieve symptoms and prevent long-term damage. Most children who have the rare disease require a hospital ... stay home from school or day care. Some children may need ongoing treatment. This is necessary if they suffer damage or are at risk of health disease. Questions ...

Alzheimer's Disease

MedlinePlus

... 60. The risk goes up as you get older. Your risk is also higher if a family member has had the disease. No treatment can stop the disease. However, some drugs may help keep symptoms from getting worse for a limited time. NIH: National Institute on Aging

[Crohn's disease surgery].

PubMed

Kala, Zdeněk; Marek, Filip; Válek, Vlastimil A; Bartušek, Daniel

2014-01-01

Surgery of Crohns disease is an important part of the general treatment algorithm. The role of surgery is changing with the development of conservative procedures. The recent years have seen the return to early treatment of patients with Crohns disease. Given the character of the disease and its intestinal symptoms, a specific approach to these patients is necessary, especially regarding the correct choice of surgery. The paper focuses on the luminal damage of the small and large intestine including complications of the disease. We describe the individual indications for a surgical solution, including the choice of anastomosis or multiple / repeated surgeries.

Genetic variants associated with celiac disease and the risk for coronary artery disease.

PubMed

Jansen, Henning; Willenborg, Christina; Schlesinger, Sabrina; Ferrario, Paola G; König, Inke R; Erdmann, Jeanette; Samani, Nilesh J; Lieb, Wolfgang; Schunkert, Heribert

2015-10-01

Epidemiological evidence suggests that patients with celiac disease are at increased risk for coronary artery disease (CAD). Genetic-epidemiological analyses identified many single nucleotide polymorphisms (SNPs) associated with celiac disease. If there is a causal relation between celiac disease and CAD, one might expect that risk alleles primarily associated with celiac disease also increase the risk of CAD. In this study we identified from literature 41 SNPs that have been previously described to be genome-wide associated with celiac disease (p < 5 × 10(-08)). These SNPs were evaluated for their association with CAD in the Coronary ARtery DIsease Genome-wide Replication and Meta-analysis (CARDIoGRAM) dataset, a meta-analysis comprising genome-wide SNP association data from 22,233 CAD cases and 64,762 controls. 24 out of 41 (58.5 %) risk alleles for celiac disease displayed a positive association with CAD (CAD-OR range 1.001-1.081). The remaining risk alleles for celiac disease (n = 16) revealed CAD-ORs of ≤1.0 (range 0.951-1.0). The proportion of CAD associated alleles was greater but did not differ significantly from the proportion of 50 % expected by chance (p = 0.069). One SNP (rs653178 at the SH2B3/ATXN2 locus) displayed study-wise statistically significant association with CAD with directionality consistent effects on celiac disease and CAD. However, the effect of this locus is most likely driven by pleiotropic effects on multiple other diseases. In conclusion, this genetically based approach provided no convincing evidence that SNPs associated with celiac disease contribute to the risk of CAD. Hence, common non-genetic factors may play a more important role explaining the coincidence of these two complex disease conditions.

Kawasaki disease.

PubMed

Gouveia, Catarina; Brito, Maria João; Ferreira, Gonçalo Cordeiro; Ferreira, Manuel; Nunes, Maria Ana Sampaio; Machado, Maria do Céu

2005-09-01

Kawasaki disease (KD) is the leading cause of acquired heart disease among children in developed nations. Its incidence has risen in recent years and 20% of untreated patients develop coronary artery abnormalities. To analyze the epidemiological, clinical, laboratory and echocardiographic data of cases diagnosed in Hospital Fernando Fonseca and to identify factors that may influence prognosis. A retrospective study was performed of all children admitted to Hospital Fernando Fonseca with Kawasaki disease between June 1996 and December 2003. Diagnosis was based on the presence of fever plus four of the classic criteria or three of them in association with coronary aneurysms. Demographic and clinical features, laboratory and imaging findings, therapeutic measures and evolution were analyzed. SPSS for Windows was used for statistical analysis, applying the Mann-Whitney and Fisher's exact tests. A total of 23 children were admitted. The incidence was 8.2 per 100 000 children under 5. Their ages ranged from 6 months to five years (median 20 months). Half of the patients were aged < 2 years, and 21 (91%) were under 5. Most were male (74%) and white (83%). Nine children lived in the same area and ten (43%) had a concomitant infectious disease (parvovirus, Chlamydia pneumoniae, respiratory syncytial virus, enterovirus and herpesvirus 6). Twenty children had typical Kawasaki disease. Twenty-two received combined therapy with aspirin and high dose immunoglobulin, which was administered, on average, on the seventh day of the disease. Coronary disease was diagnosed in seven (30%) children. The frequency of cardiac lesions was highest in the youngest age group (< 2 years). The mean follow-up was 16 months. There was no mortality and aneurysmal changes persisted in only one patient. Cardiac disorders were more frequent in the youngest age group, as has been reported elsewhere. The common geographic origin and the evidence of several infectious agents suggest that infection may

The link between chronic kidney disease and cardiovascular disease

PubMed Central

Said, Sarmad; Hernandez, German T.

2014-01-01

Context: It is well known that patients with chronic kidney disease (CKD) have a strong risk of cardiovascular disease (CVD). However, the excess risk of cardiovascular disease in patients with CKD is only partially explained by the presence of traditional risk factors, such as hypertension and diabetes mellitus. Evidence Acquisitions: Directory of Open Access Journals (DOAJ), Google Scholar, PubMed, EBSCO and Web of Science has been searched. Results: Chronic kidney disease even in its early stages can cause hypertension and potentiate the risk for cardiovascular disease. However, the practice of intensive blood pressure lowering was criticized in recent systematic reviews. Available evidence is inconclusive but does not prove that a blood pressure target of less than 130/80 mmHg as recommended in the guidelines improves clinical outcomes more than a target of less than 140/90 mmHg in adults with CKD. Conclusions: The association between CKD and CVD has been extensively documented in the literature. Both CKD and CVD share common traditional risk factors, such as smoking, obesity, hypertension, diabetes mellitus, and dyslipidemia. However, cardiovascular disease remains often underdiagnosed und undertreated in patients with CKD. It is imperative that as clinicians, we recognize that patients with CKD are a group at high risk for developing CVD and cardiovascular events. Additional studies devoted to further understand the risk factors for CVD in patients with CKD are necessary to develop and institute preventative and treatment strategies to reduce the high morbidity and mortality in patients with CKD. PMID:25093157

Survey of Pediatric Infectious Diseases Society Members About Congenital Chagas Disease.

PubMed

Edwards, Morven S; Abanyie, Francisca A; Montgomery, Susan P

2018-01-01

Participants in a survey about congenital Chagas disease, distributed electronically to Pediatric Infectious Diseases Society members, perceived having limited knowledge about congenital Trypanosoma cruzi infection. Most rarely or never consider the diagnosis in infants born to parents from Latin America. Improved awareness of congenital Chagas disease and assessment of at-risk infants is needed.

Mitochondrial defects and oxidative stress in Alzheimer disease and Parkinson disease.

PubMed

Yan, Michael H; Wang, Xinglong; Zhu, Xiongwei

2013-09-01

Alzheimer disease (AD) and Parkinson disease (PD) are the two most common age-related neurodegenerative diseases characterized by prominent neurodegeneration in selective neural systems. Although a small fraction of AD and PD cases exhibit evidence of heritability, among which many genes have been identified, the majority are sporadic without known causes. Molecular mechanisms underlying neurodegeneration and pathogenesis of these diseases remain elusive. Convincing evidence demonstrates oxidative stress as a prominent feature in AD and PD and links oxidative stress to the development of neuronal death and neural dysfunction, which suggests a key pathogenic role for oxidative stress in both AD and PD. Notably, mitochondrial dysfunction is also a prominent feature in these diseases, which is likely to be of critical importance in the genesis and amplification of reactive oxygen species and the pathophysiology of these diseases. In this review, we focus on changes in mitochondrial DNA and mitochondrial dynamics, two aspects critical to the maintenance of mitochondrial homeostasis and function, in relationship with oxidative stress in the pathogenesis of AD and PD. Copyright © 2012 Elsevier Inc. All rights reserved.

Mitochondrial defects and oxidative stress in Alzheimer disease and Parkinson disease

PubMed Central

Yan, Michael H.; Wang, Xinglong; Zhu, Xiongwei

2013-01-01

Alzheimer disease (AD) and Parkinson disease (PD) are the two most common age-related neurodegenerative diseases characterized by prominent neurodegeneration in selective neural systems. Although a small fraction of AD and PD cases exhibit evidence of heritability, among which many genes have been identified, the majority are sporadic without known causes. Molecular mechanisms underlying neurodegeneration and pathogenesis of these diseases remain elusive. Convincing evidence demonstrates oxidative stress as a prominent feature in AD and PD and links oxidative stress to the development of neuronal death and neural dysfunction, which suggests a key pathogenic role for oxidative stress in both AD and PD. Notably, mitochondrial dysfunction is also a prominent feature in these diseases, which is likely to be of critical importance in the genesis and amplification of reactive oxygen species and the pathophysiology of these diseases. In this review, we focus on changes in mitochondrial DNA and mitochondrial dynamics, two aspects critical to the maintenance of mitochondrial homeostasis and function, in relationship with oxidative stress in the pathogenesis of AD and PD. PMID:23200807

Dutch elm disease

Treesearch

James W. Walters

1992-01-01

Since its discovery in the United States in 1930, Dutch elm disease has killed thousands of native elms. The three native elms, American, slippery, and rock, have little or no resistance to Dutch elm disease, but individual trees within each species vary in susceptibility to the disease. The most important of these, American elm, is scattered in upland stands but is...

Association between demyelinating disease and autoimmune rheumatic disease in a pediatric population.

PubMed

Amorim, Ana Luiza M; Cabral, Nadia C; Osaku, Fabiane M; Len, Claudio A; Oliveira, Enedina M L; Terreri, Maria Teresa

Multiple sclerosis (MS) and neuromyelitis optica (NMO) are demyelinating diseases of the central nervous system. Autoimmunity in patients with demyelinating disease and in their families has been broadly investigated and discussed. Recent studies show a higher incidence of rheumatic autoimmune diseases among adult patients with MS or NMO and their families, but there are no studies in the pediatric population. To evaluate an association of MS and NMO with autoimmune rheumatic diseases in pediatric patients. 22 patients younger than 21 years old with MS or NMO diagnosed before the age of 18 years were evaluated regarding epidemiological data, clinical presentation, association with autoimmune diseases, family history of autoimmune diseases, laboratory findings, imaging studies and presence of auto-antibodies. Among the patients studied, there was a prevalence of females (68.1%). The mean age of symptoms onset was 8 years and 9 months and the mean current age was 16 years and 4 months. Two patients (9%) had a history of associated autoimmune rheumatic disease: one case of juvenile dermatomyositis in a patient with NMO and another of systemic lupus erythematosus in a patient with MS. Three patients (13%) had a family history of autoimmunity in first-degree relatives. Antinuclear antibody was found positive in 80% of patients with NMO and 52% of patients with MS. About 15% of antinuclear antibody-positive patients were diagnosed with rheumatologic autoimmune diseases. Among patients with demyelinating diseases diagnosed in childhood included in this study there was a high frequency of antinuclear antibody positivity but a lower association with rheumatologic autoimmune diseases than that observed in studies conducted in adults. Copyright © 2016 Elsevier Editora Ltda. All rights reserved.

Prediction of disease course in inflammatory bowel diseases

PubMed Central

Lakatos, Peter Laszlo

2010-01-01

Clinical presentation at diagnosis and disease course of both Crohn’s disease (CD) and ulcerative colitis are heterogeneous and variable over time. Since most patients have a relapsing course and most CD patients develop complications (e.g. stricture and/or perforation), much emphasis has been placed in the recent years on the determination of important predictive factors. The identification of these factors may eventually lead to a more personalized, tailored therapy. In this TOPIC HIGHLIGHT series, we provide an update on the available literature regarding important clinical, endoscopic, fecal, serological/routine laboratory and genetic factors. Our aim is to assist clinicians in the everyday practical decision-making when choosing the treatment strategy for their patients suffering from inflammatory bowel diseases. PMID:20518078

Celiac Disease: Symptoms, Diagnosis & Treatment

MedlinePlus

... for refractory celiac disease. Read More "Celiac Disease" Articles Celiac Disease Changes Everything / What is Celiac Disease? / Symptoms, Diagnosis & Treatment / Four Inches and Seven Pounds… / Learning to Live Well with Celiac Disease / Living Gluten- ...

Glaucoma and Alzheimer Disease: A Single Age-Related Neurodegenerative Disease of the Brain.

PubMed

Mancino, Raffaele; Martucci, Alessio; Cesareo, Massimo; Giannini, Clarissa; Corasaniti, Maria Tiziana; Bagetta, Giacinto; Nucci, Carlo

2017-12-06

Open Angle Glaucoma is one of the leading causes of irreversible blindness worldwide. Elevated intraocular pressure is considered an important risk factor for glaucoma, however a subset of patients experience disease progression even in presence of normal intraocular pressure values. This implies that risk factors other than intraocular pressure are involved in the pathogenesis of glaucoma. A possible relationship between glaucoma and neurodegenerative diseases such as Alzheimer Disease has been suggested. In this regard, we have recently described a high prevalence of alterations typical of glaucoma, using Heidelberg Retinal Tomograph-3 (HRT-3), in a group of patients with Alzheimer Disease. Interestingly, these alterations were not associated with elevated intraocular pressure or abnormal Central Corneal Thickness values. Alzheimer Disease is the most common form of dementia associated with progressive deterioration of memory and cognition. Complaints related to vision are common among Alzheimer Disease patients. Features common to both diseases, including risk factors and pathophysiological mechanisms, gleaned from the recent literature do suggest that Alzheimer Disease and glaucoma can be considered age-related neurodegenerative diseases that may co-exist in the elderly. Copyright© Bentham Science Publishers; For any queries, please email at epub@benthamscience.org.

Paediatric Inflammatory Bowel Disease: Clinical Presentation and Disease Location.

PubMed

Aziz, Danish Abdul; Moin, Maryum; Majeed, Atif; Sadiq, Kamran; Biloo, Abdul Gaffar

2017-01-01

To determine different clinical presentationsand disease location demarcatedby upper and lower gastrointestinal endoscopyand relevant histopathologyin children diagnosed with inflammatory bowel disease (IBD). This is 5 years (2010 to 2015) retrospective studyconducted at the Aga Khan University Hospitalenrolling65admitted children between 6 months to 15years from either gender, diagnosed with IBD on clinical presentation, endoscopy and biopsy. Different clinical presentations at the time of diagnosis were noted in different categories of the disease. All patients underwent upper and lower (up to the terminal ileum) endoscopy with multiple punch biopsies and histologic assessment of mucosal specimens. All endoscopies were done by paediatric gastroenterologists at endoscopy suite of the hospital and all specimens were reported by the pathology department. ESPGHAN revised criteria for the diagnosis of inflammatory bowel disease in children and an adolescent was used to standardize our diagnosis. Extent of disease on endoscopy and relevant histopathology of the biopsy samples were noted at the time of diagnosis. Data was summarized using mean, standard deviation, numbers and percentages for different variables. Total 56 children were enrolled according to inclusion criteria. There were 34children (61.53%) diagnosed with ulcerative colitis (UC), 10 patients (16.92%) had Crohn'sDisease (CD) and 11 (21.53%) patients were labeled as Indeterminate colitis (IC). Mean age at onset of symptoms was10.03±2.44 and mean age at diagnosis was11.10±2.36. Abdominal pain (80%) and chronic diarrhea (70%) were common symptoms in CD whereas bloody diarrhea (79.41%) and rectal bleeding(64.70%)were common presentation in UC. Patients diagnosed with indeterminate colitis(IC) had similar clinical features as in UC patients. Only 7% patients had some extra-intestinal features in the form of joint pain and/or uveitis. Aspartate aminotransferase level (95.18 ±12.89) was relatively high in

[Post-Lyme disease syndrome].

PubMed

Błaut-Jurkowska, Justyna; Jurkowski, Marcin

2016-02-01

Lyme disease is a chronic infectious disease caused by the bacteria, spirochete of the Borrelia type. Skin, nervous system, musculoskeletal system and heart may be involved in the course of the disease. The prognosis for properly treated Lyme disease is usually good. However, in about 5% of patients so called Post-Lyme disease syndrome (PLSD) develops. It is defined as a syndrome of subjective symptoms persisting despite proper treatment of Borrelia burgdorferi infection. The most common symptoms include: fatigue, muscle and joint pain, and problems with memory and concentration. Pathogenesis of PLDS remains unknown. The differential diagnosis should include neurological, rheumatic and mental diseases. Till now there is no causative treatment of PLDS. In relieving symptom rehabilitation, painkillers, anti-inflammatory and antidepressants medicines are recommended. Emotional and psychological supports are also necessary. Non-specific symptoms reported by patients with post- Lyme disease syndrome raise the suspicion of other pathologies. This can lead to misdiagnosis and implementation of unnecessary, potentially harmful to the patient's therapy. An increase in tick-borne diseases needs to increase physicians awareness of these issues. © 2016 MEDPRESS.

Eosinophils in Autoimmune Diseases

PubMed Central

Diny, Nicola L.; Rose, Noel R.; Čiháková, Daniela

2017-01-01

Eosinophils are multifunctional granulocytes that contribute to initiation and modulation of inflammation. Their role in asthma and parasitic infections has long been recognized. Growing evidence now reveals a role for eosinophils in autoimmune diseases. In this review, we summarize the function of eosinophils in inflammatory bowel diseases, neuromyelitis optica, bullous pemphigoid, autoimmune myocarditis, primary biliary cirrhosis, eosinophilic granulomatosis with polyangiitis, and other autoimmune diseases. Clinical studies, eosinophil-targeted therapies, and experimental models have contributed to our understanding of the regulation and function of eosinophils in these diseases. By examining the role of eosinophils in autoimmune diseases of different organs, we can identify common pathogenic mechanisms. These include degranulation of cytotoxic granule proteins, induction of antibody-dependent cell-mediated cytotoxicity, release of proteases degrading extracellular matrix, immune modulation through cytokines, antigen presentation, and prothrombotic functions. The association of eosinophilic diseases with autoimmune diseases is also examined, showing a possible increase in autoimmune diseases in patients with eosinophilic esophagitis, hypereosinophilic syndrome, and non-allergic asthma. Finally, we summarize key future research needs. PMID:28496445

Disease management, coping, and functional disability in pediatric sickle cell disease.

PubMed

Oliver-Carpenter, Gloria; Barach, Ilana; Crosby, Lori E; Valenzuela, Jessica; Mitchell, Monica J

2011-02-01

Youth with sickle cell disease (SCD) experience chronic symptoms that significantly interfere with physical, academic, and social-emotional functioning. Thus, to effectively manage SCD, youth and caregivers must work collaboratively to ensure optimal functioning. The goal of the current study was to examine the level of involvement in disease management tasks for youth with SCD and their caregivers. The study also examined the relationship between involvement in disease management tasks, daily functioning, and coping skills. The study utilized collaborative care and disease management theoretical frameworks. Youth and caregivers participated in the study during an annual research and education day event. Forty-seven patients with SCD aged 6 to 18 years and their caregivers completed questionnaires examining level of involvement in disease management tasks, youth functional disability, and youth coping strategies. Caregivers also completed a demographic and medical history form. Parents and youth agreed that parents were significantly more involved in disease management tasks than youth, although level of involvement varied by task. Decreased parent involvement was related to greater coping strategies used by patients, including massage, prayer, and positive thinking. Higher functional disability (lower functioning) was related to greater parent involvement in disease management tasks, suggesting that greater impairment may encourage increased parent involvement. Health professionals working with families of youth with SCD should discuss with parents and youth how disease management tasks and roles will be shared and transferred during adolescence. Parents and youth may also benefit from a discussion of these issues within their own families.

Disease Management, Coping, and Functional Disability in Pediatric Sickle Cell Disease

PubMed Central

Oliver-Carpenter, Gloria; Barach, Ilana; Crosby, Lori E.; Valenzuela, Jessica; Mitchell, Monica J.

2016-01-01

Background Youth with sickle cell disease (SCD) experience chronic symptoms that significantly interfere with physical, academic, and social-emotional functioning. Thus, to effectively manage SCD, youth and caregivers must work collaboratively to ensure optimal functioning. The goal of the current study was to examine the level of involvement in disease management tasks for youth with SCD and their caregivers. The study also examined the relationship between involvement in disease management tasks, daily functioning, and coping skills. The study utilized collaborative care and disease management theoretical frameworks. Methods Youth and caregivers participated in the study during an annual research and education day event. Forty-seven patients with SCD aged 6 to 18 years and their caregivers completed questionnaires examining level of involvement in disease management tasks, youth functional disability and youth coping strategies. Caregivers also completed a demographic and medical history form. Results Parents and youth agreed that parents are significantly more involved in disease management tasks than youth, although level of involvement varied by task. Decreased parent involvement was related to greater coping strategies used by patients, including massage, prayer, and positive thinking. Higher functional disability (lower functioning) was related to greater parent involvement in disease management tasks, suggesting that greater impairment may encourage increased parent involvement. Conclusions Health professionals working with families of youth with SCD should discuss with parents and youth how disease management tasks and roles will be shared and transferred during adolescence. Parents and youth may also benefit from a discussion of these issues within their own families. PMID:21443065

A Drug-Centric View of Drug Development: How Drugs Spread from Disease to Disease

PubMed Central

Rodriguez-Esteban, Raul

2016-01-01

Drugs are often seen as ancillary to the purpose of fighting diseases. Here an alternative view is proposed in which they occupy a spearheading role. In this view, drugs are technologies with an inherent therapeutic potential. Once created, they can spread from disease to disease independently of the drug creator’s original intentions. Through the analysis of extensive literature and clinical trial records, it can be observed that successful drugs follow a life cycle in which they are studied at an increasing rate, and for the treatment of an increasing number of diseases, leading to clinical advancement. Such initial growth, following a power law on average, has a degree of momentum, but eventually decelerates, leading to stagnation and decay. A network model can describe the propagation of drugs from disease to disease in which diseases communicate with each other by receiving and sending drugs. Within this model, some diseases appear more prone to influence other diseases than be influenced, and vice versa. Diseases can also be organized into a drug-centric disease taxonomy based on the drugs that each adopts. This taxonomy reflects not only biological similarities across diseases, but also the level of differentiation of existing therapies. In sum, this study shows that drugs can become contagious technologies playing a driving role in the fight against disease. By better understanding such dynamics, pharmaceutical developers may be able to manage drug projects more effectively. PMID:27124390

A Drug-Centric View of Drug Development: How Drugs Spread from Disease to Disease.

PubMed

Rodriguez-Esteban, Raul

2016-04-01

Drugs are often seen as ancillary to the purpose of fighting diseases. Here an alternative view is proposed in which they occupy a spearheading role. In this view, drugs are technologies with an inherent therapeutic potential. Once created, they can spread from disease to disease independently of the drug creator's original intentions. Through the analysis of extensive literature and clinical trial records, it can be observed that successful drugs follow a life cycle in which they are studied at an increasing rate, and for the treatment of an increasing number of diseases, leading to clinical advancement. Such initial growth, following a power law on average, has a degree of momentum, but eventually decelerates, leading to stagnation and decay. A network model can describe the propagation of drugs from disease to disease in which diseases communicate with each other by receiving and sending drugs. Within this model, some diseases appear more prone to influence other diseases than be influenced, and vice versa. Diseases can also be organized into a drug-centric disease taxonomy based on the drugs that each adopts. This taxonomy reflects not only biological similarities across diseases, but also the level of differentiation of existing therapies. In sum, this study shows that drugs can become contagious technologies playing a driving role in the fight against disease. By better understanding such dynamics, pharmaceutical developers may be able to manage drug projects more effectively.

United Mitochondrial Disease Foundation

MedlinePlus

Facebook Twitter Google+ Youtube Vimeo Instagram Email Menu Understanding Mitochondrial Disease What is Mito? What is Mitochondrial Disease? Types of Mitochondrial Disease Possible Symptoms Links to Other ...

Genetics Home Reference: Alexander disease

MedlinePlus

... the prognosis of a genetic condition? Genetic and Rare Diseases Information Center Frequency The prevalence of Alexander disease ... Degenerative Nerve Diseases Health Topic: Leukodystrophies Genetic and Rare Diseases Information Center (1 link) Alexander disease Additional NIH ...

Incidence, disease phenotype at diagnosis, and early disease course in inflammatory bowel diseases in Western Hungary, 2002-2006.

PubMed

Lakatos, Laszlo; Kiss, Lajos S; David, Gyula; Pandur, Tunde; Erdelyi, Zsuzsanna; Mester, Gabor; Balogh, Mihaly; Szipocs, Istvan; Molnar, Csaba; Komaromi, Erzsebet; Lakatos, Peter Laszlo

2011-12-01

Recent trends indicate a change in the epidemiology of inflammatory bowel diseases (IBD), with previously low incidence areas now reporting a progressive rise in the incidence. Our aim was to analyze the incidence and disease phenotype at diagnosis in IBD in the population-based Veszprem Province database, which included incident patients diagnosed between January 1, 2002 and December 31, 2006. Data of 393 incident patients were analyzed (ulcerative colitis [UC]: 220, age-at-diagnosis: 40.5 years; Crohn's disease [CD]: 163, age-at-diagnosis: 32.5 years; and indeterminate colitis [IC]: 10). Both hospital and outpatient records were collected and comprehensively reviewed. Adjusted mean incidence rates were 8.9/10(5) person-years for CD and 11.9/10(5) person-years in UC. Peak onset age in both CD and UC patients was 21-30 years old. Location at diagnosis in UC was proctitis in 26.8%, left-sided colitis in 50.9%, and pancolitis in 22.3%. The probability of proximal extension and colectomy after 5 years was 12.7% and 2.8%. The disease location in CD was ileal in 20.2%, colonic in 35.6%, ileocolonic in 44.2%, and upper gastrointestinal in four patients. Behavior at diagnosis was stenosing/penetrating in 35.6% and perianal in 11.1%. Patients with colonic disease were older at diagnosis compared to patients with ileal or ileocolonic disease. In a Kaplan-Meier analysis, probability of surgical resection was 9.8%, 18.5%, and 21.3% after 1, 3, and 5 years of disease duration, respectively. The incidence of IBD in Veszprem Province in the last decade was high, equal to that in high-incidence areas in Western European countries. Early disease course is milder compared to data reported in the literature. Copyright © 2011 Crohn's & Colitis Foundation of America, Inc.

Morgellons Disease.

PubMed

Ohn, Jungyoon; Park, Seon Yong; Moon, Jungyoon; Choe, Yun Seon; Kim, Kyu Han

2017-04-01

Morgellons disease is a rare disease with unknown etiology. Herein, we report the first case of Morgellons disease in Korea. A 30-year-old woman presented with a 2-month history of pruritic erythematous patches and erosions on the arms, hands, and chin. She insisted that she had fiber-like materials under her skin, which she had observed through a magnifying device. We performed skin biopsy, and observed a fiber extruding from the dermal side of the specimen. Histopathological examination showed only mild lymphocytic infiltration, and failed to reveal evidence of any microorganism. The polymerase chain reaction for Borrelia burgdorferi was negative in her serum.

Morgellons Disease

PubMed Central

Ohn, Jungyoon; Park, Seon Yong; Moon, Jungyoon; Choe, Yun Seon

2017-01-01

Morgellons disease is a rare disease with unknown etiology. Herein, we report the first case of Morgellons disease in Korea. A 30-year-old woman presented with a 2-month history of pruritic erythematous patches and erosions on the arms, hands, and chin. She insisted that she had fiber-like materials under her skin, which she had observed through a magnifying device. We performed skin biopsy, and observed a fiber extruding from the dermal side of the specimen. Histopathological examination showed only mild lymphocytic infiltration, and failed to reveal evidence of any microorganism. The polymerase chain reaction for Borrelia burgdorferi was negative in her serum. PMID:28392653

[Infectious diseases].

PubMed

Chapuis-Taillard, Caroline; de Vallière, Serge; Bochud, Pierre-Yves

2009-01-07

In 2008, several publications have highlighted the role of climate change and globalization on the epidemiology of infectious diseases. Studies have shown the extension towards Europe of diseases such as Crimea-Congo fever (Kosovo, Turkey and Bulgaria), leismaniosis (Cyprus) and chikungunya virus infection (Italy). The article also contains comments on Plasmodium knowlesi, a newly identified cause of severe malaria in humans, as well as an update on human transmission of the H5NI avian influenza virus. It also mentions new data on Bell's palsy as well as two vaccines (varicella-zoster and pneumococcus), and provides a list of recent guidelines for the treatment of common infectious diseases.

Clinically Unsuspected Prion Disease Among Patients With Dementia Diagnoses in an Alzheimer's Disease Database.

PubMed

Maddox, Ryan A; Blase, J L; Mercaldo, N D; Harvey, A R; Schonberger, L B; Kukull, W A; Belay, E D

2015-12-01

Brain tissue analysis is necessary to confirm prion diseases. Clinically unsuspected cases may be identified through neuropathologic testing. National Alzheimer's Coordinating Center (NACC) Minimum and Neuropathologic Data Set for 1984 to 2005 were reviewed. Eligible patients had dementia, underwent autopsy, had available neuropathologic data, belonged to a currently funded Alzheimer's Disease Center (ADC), and were coded as having an Alzheimer's disease clinical diagnosis or a nonprion disease etiology. For the eligible patients with neuropathology indicating prion disease, further clinical information, collected from the reporting ADC, determined whether prion disease was considered before autopsy. Of 6000 eligible patients in the NACC database, 7 (0.12%) were clinically unsuspected but autopsy-confirmed prion disease cases. The proportion of patients with dementia with clinically unrecognized but autopsy-confirmed prion disease was small. Besides confirming clinically suspected cases, neuropathology is useful to identify unsuspected clinically atypical cases of prion disease. © The Author(s) 2015.

Graves' disease following subacute thyroiditis.

PubMed

Nakano, Yoshishige; Kurihara, Hideo; Sasaki, Jun

2011-12-01

Subacute thyroiditis is a painful, inflammatory disease frequently accompanied with fever. It is suspected to be a viral infectious disease, while Graves' disease is an autoimmune disease. Thus, there appears to be no etiological relationship between the two diseases. A total of 25,267 thyroid disease patients made their first visits to our thyroid clinic during a period of 24 years between 1985 and 2008. Among them, subacute thyroiditis and Graves' disease accounted for 918 patients (3.6%) and 4,617 patients (18.2%), respectively. We have encountered 7 patients (one male and six female) with subacute thyroiditis followed by Graves' disease in this period (0.15% of the 4,617 patients with Graves' disease and 0.76% of the 918 patients with subacute thyroiditis). The age ranges were 40~66 years (mean 48.7 years) at the onset of subacute thyroiditis. The intervals between the onsets of subacute thyroiditis and Graves' disease were 1~8 months (mean 4.7 months). Because Graves' disease was preceded by subacute thyroiditis, the signs and symptoms of both diseases were evident together in the intervening period. The diagnosis of Graves' disease in those patients is always difficult because of atypical signs and symptoms and an unclear onset time. The causes of the Graves'disease that followed subacute thyroiditis are still unknown. However, the inflammatory nature of subacute thyroiditis may lead to the activation of the autoimmune response in susceptible subjects, resulting in the onset of Graves' disease. Graves' disease should be suspected when a high blood level of thyroid hormone persists after subacute thyroiditis.

Pregnancy and rheumatic diseases.

PubMed

Gayed, M; Gordon, C

2007-11-01

Pregnancy is an issue that should be discussed with all patients with rheumatic diseases who are in the reproductive age group. Infertility is rarely due to the disease but can be associated with cyclophosphamide therapy. Most rheumatic diseases that are well controlled prior to pregnancy do not deteriorate in pregnancy, providing that the patient continues with appropriate disease-modifying therapy. Some patients with inflammatory arthritis go in to remission during pregnancy. Patients with renal involvement may be at increased risk of disease flare. This needs to be distinguished from pre-eclampsia. Intrauterine growth restriction is more likely in patients with active systemic disease, hypertension, a history of thrombosis and renal involvement. Premature delivery may need to be planned to reduce the risks of stillbirth and can be associated with a variety of neonatal complications. Post-partum flare is common in all the rheumatic diseases.

Gut microbiota and liver diseases

PubMed Central

Minemura, Masami; Shimizu, Yukihiro

2015-01-01

Several studies revealed that gut microbiota are associated with various human diseases, e.g., metabolic diseases, allergies, gastroenterological diseases, and liver diseases. The liver can be greatly affected by changes in gut microbiota due to the entry of gut bacteria or their metabolites into the liver through the portal vein, and the liver-gut axis is important to understand the pathophysiology of several liver diseases, especially non-alcoholic fatty liver disease and hepatic encephalopathy. Moreover, gut microbiota play a significant role in the development of alcoholic liver disease and hepatocarcinogenesis. Based on these previous findings, trials using probiotics have been performed for the prevention or treatment of liver diseases. In this review, we summarize the current understanding of the changes in gut microbiota associated with various liver diseases, and we describe the therapeutic trials of probiotics for those diseases. PMID:25684933

Prevalence of celiac disease among first-degree relatives of Indian celiac disease patients.

PubMed

Mishra, Asha; Prakash, Shyam; Kaur, Gurvinder; Sreenivas, Vishnubhatla; Ahuja, Vineet; Gupta, Siddhartha Datta; Makharia, Govind K

2016-03-01

Celiac disease, once thought to be uncommon in Asia, is now recognized in Asian nations as well. We investigated the prevalence of celiac disease in first-degree relatives of celiac disease patients followed in our centre. First-degree relatives were screened prospectively for celiac disease using questionnaire-based interview and anti-tissue transglutaminase antibody. Serology positive first-degree relatives underwent duodenal biopsies. Diagnosis of celiac disease was made based on positive serology and villous abnormality Marsh grade 2 or higher. Human leucocyte antigen DQ2/-DQ8 was also assessed in 127 first-degree relatives. 434 first-degree relatives of 176 celiac disease patients were prospectively recruited; 282 were symptomatic (64.9%), 58 were positive for serology (13.3%). Seroprevalence was higher in female than in males (19% vs 8.5%; p=0.001) and highest in siblings (16.9%) than parents (13.6%) and children (5.9%) of celiac patients (p=0.055); 87.4% first-degree relatives were human leucocyte antigen-DQ2/-DQ8 positive. Overall prevalence of celiac disease was 10.9% amongst first-degree relatives. The prevalence of celiac disease in first-degree relatives of celiac disease patients was 10.9% in our cohort, and 87% had human leucocyte antigen-DQ2 or -DQ8 haplotype. All first-degree relatives of celiac disease patients should be screen for celiac disease even if asymptomatic or with atypical manifestations. Copyright © 2015 Editrice Gastroenterologica Italiana S.r.l. Published by Elsevier Ltd. All rights reserved.

Defining an emerging disease.

PubMed

Moutou, F; Pastoret, P-P

2015-04-01

Defining an emerging disease is not straightforward, as there are several different types of disease emergence. For example, there can be a 'real' emergence of a brand new disease, such as the emergence of bovine spongiform encephalopathy in the 1980s, or a geographic emergence in an area not previously affected, such as the emergence of bluetongue in northern Europe in 2006. In addition, disease can emerge in species formerly not considered affected, e.g. the emergence of bovine tuberculosis in wildlife species since 2000 in France. There can also be an unexpected increase of disease incidence in a known area and a known species, or there may simply be an increase in our knowledge or awareness of a particular disease. What all these emerging diseases have in common is that human activity frequently has a role to play in their emergence. For example, bovine spongiform encephalopathy very probably emerged as a result of changes in the manufacturing of meat-and-bone meal, bluetongue was able to spread to cooler climes as a result of uncontrolled trade in animals, and a relaxation of screening and surveillance for bovine tuberculosis enabled the disease to re-emerge in areas that had been able to drastically reduce the number of cases. Globalisation and population growth will continue to affect the epidemiology of diseases in years to come and ecosystems will continue to evolve. Furthermore, new technologies such as metagenomics and high-throughput sequencing are identifying new microorganisms all the time. Change is the one constant, and diseases will continue to emerge, and we must consider the causes and different types of emergence as we deal with these diseases in the future.

Caudal dysplasia sequence with penile enlargement: case report and a potential pathogenic hypothesis.

PubMed

Makhoul, I R; Aviram-Goldring, A; Paperna, T; Sujov, P; Rienstein, S; Smolkin, T; Epelman, M; Gershoni-Baruch, R

2001-02-15

The clinical spectrum of caudal dysplasia sequence (CDS) is noted for its diversity. The origin of CDS remains unknown, though poorly controlled gestational diabetes has been implicated in some cases. Here we describe the case of a newborn with CDS associated with penile enlargement (PE). The main anomalies included anal atresia, agenesis of the kidneys and of the sacrococcygeal vertebrae, dysgenesis of lumbar vertebrae, and bilateral cryptorchidism. Penile enlargement (7 cm), a rather unusual finding, has so far not been reported in association with CDS. Chromosomal analysis failed, and the neonate died 30 min after birth. Comparative genomic hybridization analysis using stored DNA showed a balanced normal male DNA content, which negates chromosomal losses or gains as a cause of CDS and/or PE. PE due to virilizing-type adrenal hyperplasia, caused by common mutations in the genes encoding for the adrenal enzymes 21-hydroxylase and 11-hydroxylase, was ruled out. We report on a previously unpublished case of the coexistence of PE and severe CDS and propose a possible pathogenetic hypothesis of this association. Copyright Wiley-Liss. Inc.

Paracoccygeal corkscrew approach to ganglion impar injections for tailbone pain.

PubMed

Foye, Patrick M; Patel, Shounuck I

2009-01-01

A new technique for performing nerve blocks of the ganglion impar (ganglion Walther) is presented. These injections have been reported to relieve coccydynia (tailbone pain), as well as other malignant and nonmalignant pelvic pain syndromes. A variety of techniques have been previously described for blocking this sympathetic nerve ganglion, which is located in the retrorectal space just anterior to the upper coccygeal segments. Prior techniques have included approaches through the anococcygeal ligament, through the sacrococcygeal joint, and through intracoccygeal joint spaces. This article presents a new, paracoccygeal approach whereby the needle is inserted alongside the coccyx and the needle is guided through three discrete steps with a rotating or corkscrew trajectory. Compared with some of the previously published techniques, this paracoccygeal corkscrew approach has multiple potential benefits, including ease of fluoroscopic guidance using the lateral view, ability to easily use a stylet for the spinal needle, and use of a shorter, thinner needle. While no single technique works best for all patients and each technique has potential advantages and disadvantages, this new technique adds to the available options.

The Epidemiology and Management of Lung Diseases in Sickle Cell Disease: Lessons Learned from Acute and Chronic Lung Disease in Cystic Fibrosis.

PubMed

Willen, Shaina M; DeBaun, Michael R

2018-06-01

Although sickle cell disease and cystic fibrosis are two of the most common monogenic diseases presenting in childhood worldwide, cystic fibrosis and sickle cell disease enjoy vastly different funding and collaborative research efforts. Pulmonary complications in cystic fibrosis have well established guidelines and multidisciplinary involvement focusing on comorbidities, routine monitoring, infectious complications, nutrition, and treatment recommendations. These guidelines can provide a framework on which to build knowledge of lung disease in sickle cell disease. Copyright © 2018 Elsevier Inc. All rights reserved.

Patterns of coral disease across the Hawaiian Archipelago: Relating disease to environment

USGS Publications Warehouse

Aeby, G.S.; Williams, G.J.; Franklin, E.C.; Kenyon, J.; Cox, E.F.; Coles, S.; Work, Thierry M.

2011-01-01

In Hawaii, coral reefs occur across a gradient of biological (host abundance), climatic (sea surface temperature anomalies) and anthropogenic conditions from the human-impacted reefs of the main Hawaiian Islands (MHI) to the pristine reefs of the northwestern Hawaiian Islands (NWHI). Coral disease surveys were conducted at 142 sites from across the Archipelago and disease patterns examined. Twelve diseases were recorded from three coral genera (Porites, Montipora, Acropora) with Porites having the highest prevalence. Porites growth anomalies (PorGAs) were significantly more prevalent within and indicative of reefs in the MHI and Porites trematodiasis (PorTrm) was significantly more prevalent within and indicative of reefs in the NWHI. Porites tissue loss syndrome (PorTLS) was also important in driving regional differences but that relationship was less clear. These results highlight the importance of understanding disease ecology when interpreting patterns of disease occurrence. PorTrm is caused by a parasitic flatworm that utilizes multiple hosts during its life cycle (fish, mollusk and coral). All three hosts must be present for the disease to occur and higher host abundance leads to higher disease prevalence. Thus, a high prevalence of PorTrm on Hawaiian reefs would be an indicator of a healthy coral reef ecosystem. In contrast, the high occurrence of PorGAs within the MHI suggests that PorGAs are related, directly or indirectly, to some environmental co-factor associated with increased human population sizes. Focusing on the three indicator diseases (PorGAs, PorTrm, PorTLS) we used statistical modeling to examine the underlying associations between disease prevalence and 14 different predictor variables (biotic and abiotic). All three diseases showed positive associations with host abundance and negative associations with thermal stress. The association with human population density differed among disease states with PorGAs showing a positive and PorTrm showing

Patterns of Coral Disease across the Hawaiian Archipelago: Relating Disease to Environment

PubMed Central

Aeby, Greta S.; Williams, Gareth J.; Franklin, Erik C.; Kenyon, Jean; Cox, Evelyn F.; Coles, Steve; Work, Thierry M.

2011-01-01

In Hawaii, coral reefs occur across a gradient of biological (host abundance), climatic (sea surface temperature anomalies) and anthropogenic conditions from the human-impacted reefs of the main Hawaiian Islands (MHI) to the pristine reefs of the northwestern Hawaiian Islands (NWHI). Coral disease surveys were conducted at 142 sites from across the Archipelago and disease patterns examined. Twelve diseases were recorded from three coral genera (Porites, Montipora, Acropora) with Porites having the highest prevalence. Porites growth anomalies (PorGAs) were significantly more prevalent within and indicative of reefs in the MHI and Porites trematodiasis (PorTrm) was significantly more prevalent within and indicative of reefs in the NWHI. Porites tissue loss syndrome (PorTLS) was also important in driving regional differences but that relationship was less clear. These results highlight the importance of understanding disease ecology when interpreting patterns of disease occurrence. PorTrm is caused by a parasitic flatworm that utilizes multiple hosts during its life cycle (fish, mollusk and coral). All three hosts must be present for the disease to occur and higher host abundance leads to higher disease prevalence. Thus, a high prevalence of PorTrm on Hawaiian reefs would be an indicator of a healthy coral reef ecosystem. In contrast, the high occurrence of PorGAs within the MHI suggests that PorGAs are related, directly or indirectly, to some environmental co-factor associated with increased human population sizes. Focusing on the three indicator diseases (PorGAs, PorTrm, PorTLS) we used statistical modeling to examine the underlying associations between disease prevalence and 14 different predictor variables (biotic and abiotic). All three diseases showed positive associations with host abundance and negative associations with thermal stress. The association with human population density differed among disease states with PorGAs showing a positive and PorTrm showing

Microbial origins of chronic diseases.

PubMed

Gargano, Lisa M; Hughes, James M

2014-01-01

Chronic diseases such as cardiovascular disease and cancer are among the leading causes of death worldwide and have been on the rise over the past decade. Associations between microbial agents and development of chronic diseases have been made in the past, and new connections are currently being assessed. Investigators are examining the relationship between infectious agents and chronic disease using new technologies with more rigor and specificity. This review examines microbial agents' links to and associations with cardiovascular diseases, cancer, neurodegenerative diseases, renal diseases, psychiatric disorders, and obesity and addresses the important role of the human microbiome in maintenance of health and its potential role in chronic diseases. These associations and relationships will impact future research priorities, surveillance approaches, treatment strategies, and prevention programs for chronic diseases.

[Mad cow disease and the new variant of Creutzfeldt-Jakob disease].

PubMed

Pastoret, P P

2001-08-01

Bovine spongiform encephalopathy and the new variant of Creutzfeldt-Jakob disease (vCJD) belong to a family of similar diseases under the name of transmissible spongiform encephalopathies (TSE). It is demonstrated that the agent responsible for bovine spongiform encephalopathy (BSE) is also responsible for the new variant of Creutzfeldt-Jakob in man. This contribution describes the main characteristics of the two diseases.

Newcastle disease

USDA-ARS?s Scientific Manuscript database

The focus of this chapter, are viruses of avian paramyxovirus serotype-1 (APMV-1). All isolates of APMV-1 are of one serotype and are referred to as Newcastle disease viruses (NDV). Newcastle disease (ND) is caused only by infections with virulent isolates of APMV-1 (virulent NDV or vNDV). Virulent ...

Respiratory diseases registries in the national registry of rare diseases.

PubMed

Lara Gallego, Beatriz; Abaitua Borda, Ignacio; Galán Gil, Genaro; Castillo Villegas, Diego; Casanova Espinosa, Álvaro; Cano Jiménez, Esteban; Ojanguren Arranz, Iñigo; Posada de la Paz, Manuel

2014-09-01

This report describes the general characteristics, objectives and organizational aspects of the registries of rare respiratory diseases included in the National Registry of Rare Diseases of the Research Institute for Rare Diseases (ISCIII), in order to publicize their existence and encourage the participation of professionals. Information is collected on the following conditions: alpha-1 antitrypsin deficiency, idiopathic tracheal stenosis, adult pulmonary Langerhans' cell histiocytosis, lymphangioleiomyomatosis, alveolar proteinosis, and sarcoidosis. Copyright © 2013 SEPAR. Published by Elsevier Espana. All rights reserved.

Mixed Connective Tissue Disease

MedlinePlus

Mixed connective tissue disease Overview Mixed connective tissue disease has signs and symptoms of a combination of disorders — primarily lupus, scleroderma and polymyositis. For this reason, mixed connective tissue disease ...

On the classification of diseases.

PubMed

Smart, Benjamin

2014-08-01

Identifying the necessary and sufficient conditions for individuating and classifying diseases is a matter of great importance in the fields of law, ethics, epidemiology, and of course, medicine. In this paper, I first propose a means of achieving this goal, ensuring that no two distinct disease-types could correctly be ascribed to the same disease-token. I then posit a metaphysical ontology of diseases-that is, I give an account of what a disease is. This is essential to providing the most effective means of interfering with disease processes. Following existing work in the philosophy of medicine and epidemiology (primarily Christopher Boorse; Caroline Whitbeck; Alexander Broadbent), philosophy of biology (Joseph LaPorte; D.L. Hull), conditional analyses of causation (J.L. Mackie; David Lewis), and recent literature on dispositional essentialism (Stephen Mumford and Rani Anjum; Alexander Bird), I endorse a dispositional conception of disease. Following discussion of various conceptions of disease-identity, their relations to the clinical and pathological effects of the diseases in question, and how diseases are treated, I conclude (i) that diseases should be individuated by their causes, and (ii) that diseases are causal processes best seen as simultaneously acting sequences of mutually manifesting dispositions.

Mammary and extramammary Paget's disease

PubMed Central

Lloyd, J; Flanagan, A

2000-01-01

Mammary and extramammary Paget's disease are uncommon intraepithelial adenocarcinomas. Both conditions have similar clinical features, which mimic inflammatory and infective diseases. Histological diagnostic confusion can arise between Paget's disease and other neoplastic conditions affecting the skin, with the most common differential diagnoses being malignant melanoma and atypical squamous disease. The glandular differentiation of both mammary Paget's disease and extramammary Paget's disease is indicated by morphological appearances, the presence of intracellular mucin in many cases, and positive immunohistochemical staining for glandular cytokeratins, epithelial membrane antigen, and carcinoembryonic antigen. This article provides an overview of mammary and extramammary Paget's disease and discusses recent evidence regarding the cell of origin. The concepts of primary and secondary Paget's disease are presented and the differential diagnosis is discussed with reference to immunohistochemical markers that might be of diagnostic value. Key Words: mammary Paget's disease • extramammary Paget's disease PMID:11064666