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Sample records for diseases radiologic-pathologic correlation

  1. Castleman Disease of the Thorax: Clinical, Radiologic, and Pathologic Correlation: From the Radiologic Pathology Archives.

    PubMed

    Kligerman, Seth J; Auerbach, Aaron; Franks, Teri J; Galvin, Jeffrey R

    2016-01-01

    Castleman disease is a complex lymphoproliferative disease pathologically divided into two subtypes, the hyaline vascular variant (HVV) and the plasma cell variant (PCV). The HVV is the most common, is thought to represent a benign neoplasm of lymph node stromal cells, and is treated with surgical resection. It is most commonly found in the mediastinum, where it classically appears as a unicentric, avidly enhancing mass at computed tomography (CT) and magnetic resonance imaging. This appearance can mimic other avidly enhancing mediastinal masses, and location, clinical history, laboratory data, and nuclear medicine single photon emission CT (SPECT) and positron emission tomography (PET) studies can help narrow the differential diagnosis. Multicentric Castleman disease (MCD), which in the majority of cases is composed of the PCV, is an aggressive lymphoproliferative disorder associated with human herpesvirus infection, interleukin 6 dysregulation, and other systemic disorders. While it can be difficult to differentiate MCD from lymphoma, the presence of avidly enhancing lymph nodes can suggest the diagnosis. The purpose of this article is to review the clinical, immunologic, and pathologic findings associated with both unicentric Castleman disease and MCD and discuss how the imaging findings correlate with the pathophysiology of the disease.

  2. Spinal Metastases of Extramammary Paget Disease with Radiologic-Pathologic Correlation.

    PubMed

    Little, Jason T; Lehman, Vance T; Morris, Jonathan M; Lehman, Julia S; Diehn, Felix E

    2016-05-01

    Extramammary Paget disease (EMPD) is an uncommon malignancy. It manifests either in the primary form in the skin as an intraepithelial neoplasm, or in secondary form as pagetoid (intraepithelial) spread of an underlying internal carcinoma to the skin. Although local invasion and recurrence of primary extramammary Paget disease are relatively frequent, widespread metastases are rare. As such, there are very few reports and little characterization of the radiologic features of widespread spinal metastases. To our knowledge, there are no prior reports of a metastatic extramammary Paget disease presenting as a painful pathologic vertebral body compression fracture. We report the radiological features of a case of primary extramammary Paget disease with subsequent spinal metastases presenting as a painful compression fracture.

  3. Clinical-Radiologic-Pathologic Correlation of Smoking-Related Diffuse Parenchymal Lung Disease.

    PubMed

    Kligerman, Seth; Franks, Teri J; Galvin, Jeffrey R

    2016-11-01

    The direct toxicity of cigarette smoke and the body's subsequent response to this lung injury leads to a wide array of pathologic manifestations and disease states that lead to both reversible and irreversible injury to the large airways, small airways, alveolar walls, and alveolar spaces. These include emphysema, bronchitis, bronchiolitis, acute eosinophilic pneumonia, pulmonary Langerhans cell histiocytosis, respiratory bronchiolitis, desquamative interstitial pneumonia, and pulmonary fibrosis. Although these various forms of injury have different pathologic and imaging manifestations, they are all part of the spectrum of smoking-related diffuse parenchymal lung disease. Copyright © 2016 Elsevier Inc. All rights reserved.

  4. Benign Multicystic Peritoneal Mesothelioma: AIRP Best Cases in Radiologic-Pathologic Correlation.

    PubMed

    Lee, Ruri; Tong, Angela; Kurtis, Boaz; Gilet, Anthony G

    2016-01-01

    RadioGraphics continues to publish radiologic-pathologic case material selected from the American Institute for Radiologic Pathology (AIRP) "best case" presentations. The AIRP conducts a 4-week Radiologic Pathology Correlation Course, which is offered five times per year. On the penultimate day of the course, the best case presentation is held at the American Film Institute Silver Theater and Cultural Center in Silver Spring, Md. The AIRP faculty identifies the best cases, from each organ system, brought by the resident attendees. One or more of the best cases from each of the five courses are then solicited for publication in RadioGraphics. These cases emphasize the importance of radiologic-pathologic correlation in the imaging evaluation and diagnosis of diseases encountered at the institute and its predecessor, the Armed Forces Institute of Pathology (AFIP).

  5. Pulmonary Alveolar Microlithiasis: AIRP Best Cases in Radiologic-Pathologic Correlation.

    PubMed

    Delic, Joseph A; Fuhrman, Carl R; Trejo Bittar, Humberto E

    2016-01-01

    Editor's Note.-RadioGraphics continues to publish radiologic-pathologic case material selected from the American Institute for Radiologic Pathology (AIRP) "best case" presentations. The AIRP conducts a 4-week Radiologic Pathology Correlation Course, which is offered five times per year. On the penultimate day of the course, the best case presentation is held at the American Film Institute Silver Theater and Cultural Center in Silver Spring, Md. The AIRP faculty identifies the best cases, from each organ system, brought by the resident attendees. One or more of the best cases from each of the five courses are then solicited for publication in RadioGraphics. These cases emphasize the importance of radiologic-pathologic correlation in the imaging evaluation and diagnosis of diseases encountered at the institute and its predecessor, the Armed Forces Institute of Pathology (AFIP).

  6. Immunoglobulin G4 -related Sclerosing Mastitis: AIRP Best Cases in Radiologic-Pathologic Correlation.

    PubMed

    Zalaquett, Eugenio; Razmilic, Dravna; Oddo, David

    2016-01-01

    Editor's Note.-RadioGraphics continues to publish radiologic-pathologic case material selected from the American Institute for Radiologic Pathology (AIRP) "best case" presentations. The AIRP conducts a 4-week Radiologic Pathology Correlation Course, which is offered five times per year. On the penultimate day of the course, the best case presentation is held at the American Film Institute Silver Theater and Cultural Center in Silver Spring, Md. The AIRP faculty identifies the best cases, from each organ system, brought by the resident attendees. One or more of the best cases from each of the five courses are then solicited for publication in RadioGraphics. These cases emphasize the importance of radiologic-pathologic correlation in the imaging evaluation and diagnosis of diseases encountered at the institute and its predecessor, the Armed Forces Institute of Pathology (AFIP).

  7. Desmoplastic Small Round Cell Tumor of the Kidney: AIRP Best Cases in Radiologic-Pathologic Correlation.

    PubMed

    Walton, William J; Flores, Raina R

    2016-01-01

    Editor's Note.-RadioGraphics continues to publish radiologic-pathologic case material selected from the American Institute for Radiologic Pathology (AIRP) "best case" presentations. The AIRP conducts a 4-week Radiologic Pathology Correlation Course, which is offered five times per year. On the penultimate day of the course, the best case presentation is held at the American Film Institute Silver Theater and Cultural Center in Silver Spring, Md. The AIRP faculty identifies the best cases, from each organ system, brought by the resident attendees. One or more of the best cases from each of the five courses are then solicited for publication in RadioGraphics. These cases emphasize the importance of radiologic-pathologic correlation in the imaging evaluation and diagnosis of diseases encountered at the institute and its predecessor, the Armed Forces Institute of Pathology (AFIP).

  8. Magnetic resonance imaging in breast cancer treated with neoadjuvant chemotherapy: radiologic-pathologic correlation of the response and disease-free survival depending on molecular subtype.

    PubMed

    Cruz Ciria, S; Jiménez Aragón, F; García Mur, C; Esteban Cuesta, H; Gros Bañeres, B

    2014-01-01

    To evaluate the radiologic and pathologic responses to neoadjuvant chemotherapy and their correlation in the molecular subtypes of breast cancer and to analyze their impact in disease-free survival. We included 205 patients with breast cancer treated with neoadjuvant chemotherapy. We evaluated the radiologic response by comparing MRI images acquired before and after chemotherapy. The pathologic response was classified on the Miller and Payne scale. For each subtype (HER2+, TN, luminal A, luminal B HER2-, and luminal B HER2+), we used the χ(2) test, Student's t-test, ANOVA, and Kendall's Tau-b to evaluate the radiologic response and the pathologic response, the radiologic-pathologic correlation, and the disease-free survival. The subtypes HER2+ (62.1%) and TN (45.2%) had higher rates of complete radiologic response. The pathologic response was 65.5% in the HER2+ subtype, 38.1% in the TN subtype, 2.6% in the luminal A subtype, 8.2% in the luminal B HER2- subtype, and 31% in the luminal B HER2+ subtype. The rate of radiologic-pathologic correlation was significant in all subtypes, higher in TN and HER2 (Tau-b coefficients 0.805 and 0.717, respectively). Disease-free survival was higher in HER2+ (91.9±3.3 months) and lower in TN (69.5±6.3 months), with significant differences between the cases with poor and good radiologic responses (P=.040). Survival was greater in cases with good radiologic response, except in cases with luminal A subtype. MRI can be a useful tool that provides information about the evolution of breast cancer treated with neoadjuvant chemotherapy, which varies with the immunohistochemical subtype. Copyright © 2012 SERAM. Published by Elsevier Espana. All rights reserved.

  9. Radiologic-pathologic correlation of musculoskeletal lesions

    SciTech Connect

    Hudson, T.M.

    1987-01-01

    This atlas correlates the pathologic and radiologic features of a wide variety of lesions of the bone and soft tissue. Multiple imaging techniques are illustrated with an emphasis on plain radiographs. The author stresses the interpretation of radiographic images in terms of underlying pathology rather than as isolated images. Illustrations of plain radiographs and other radiographic imaging techniques are correlated with numerous micro- and macroscopic pathologic illustrations showing typical histologic and gross pathologic features.

  10. The infected liver: radiologic-pathologic correlation.

    PubMed

    Mortelé, Koenraad J; Segatto, Enrica; Ros, Pablo R

    2004-01-01

    Recent technologic advances have significantly enhanced the role of imaging in the detection, characterization, and management of infectious diseases involving the liver. In addition, imaging-guided percutaneous drainage has greatly improved the clinical treatment of patients with focal liver abscess. Infectious liver diseases can be accurately evaluated with ultrasonography (US), computed tomography (CT), and magnetic resonance (MR) imaging. Characteristic changes in US echogenicity, CT attenuation, or MR imaging signal intensity and typical enhancement patterns can contribute to the diagnosis of specific infectious diseases, including abscesses, parasitic diseases, fungal diseases, granulomatous diseases, viral hepatitis, and other less common infections. CT is particularly helpful in revealing the presence of calcifications and gas and in detailing the enhancement pattern. The multiplanar capability of MR imaging and its sensitivity to small differences in tissue composition increase its specificity for certain hepatic infections, including hydatid cyst and candidiasis. Radiologic findings may be sufficient to obviate aspiration or histologic examination, although in most instances they are less specific. Nevertheless, imaging findings taken together with appropriate clinical information may provide the most likely diagnosis, even if biopsy is sometimes required for confirmation.

  11. Percutaneous transluminal angioplasty: radiological-pathological correlation

    SciTech Connect

    Saffitz, J.E.; Totty, W.G.; McClennan, B.L.; Gilula, L.A.

    1981-12-01

    Radiological and pathological assessment of the degree and extent of arterial injury caused by balloon angioplasty was performed in 20 renal arteries obtained at autopsy. Intact arteries were studied angiographically before and after dilatation and then examined histologically. Both normal and diseased arteries were subjected to varying degrees of dilatation. Damage ranged from minimal inimal disruption to major tears of the muscular media. Equivalent dilatory force created greater damage in the distal (muscular) than in the proximal (elastic) portion of the renal artery. There was no evidence of plaque remodling or compression.

  12. Macrodystrophia lipomatosa: radiologic-pathologic correlation.

    PubMed

    Upadhyay, Deepika; Parashari, Umesh C; Khanduri, Sachin; Bhadury, Samarjit

    2011-01-01

    Macrodystrophia lipomatosa (MDL) is a rare cause of congenital macrodactyly, characterised by progressive proliferation of all mesenchymal elements, with disproportionate increase in fibro-adipose tissue. It occurs most frequently in lower limbs along the distribution of the medial plantar nerve. MDL presents as localised gigantism of the hand or foot and comes to clinical attention for cosmetic reasons, mechanical problems secondary to degenerative joint disease, or development of neurovascular compression. Here, we report a case of MDL, with altered soft tissue growth due to an earlier surgery, making clinical diagnosis difficult. However, with a complete radio-clinical work-up and review of the history, a provisional diagnosis of MDL was made, which was confirmed by histopathology and during surgery.

  13. Pigmented villonodular synovitis: radiologic-pathologic correlation.

    PubMed

    Murphey, Mark D; Rhee, John H; Lewis, Rachel B; Fanburg-Smith, Julie C; Flemming, Donald J; Walker, Eric A

    2008-01-01

    Pigmented villonodular synovitis (PVNS) represents an uncommon benign neoplastic process that may involve the synovium of the joint diffusely or focally (PVNS) or that may occur extraarticularly in a bursa (pigmented villonodular bursitis [PVNB]) or tendon sheath (pigmented villonodular tenosynovitis [PVNTS]). Pathologic specimens of the hypertrophic synovium may appear villous, nodular, or villonodular, and hemosiderin deposition, often prominent, is seen in most cases. The knee, followed by the hip, is the most common location for PVNS or PVNB, whereas PVNTS occurs most often in the hand and foot. PVNTS is also referred to as giant cell tumor of the tendon sheath (GCTTS). PVNTS is the most common form of this disease by a ratio of approximately 3:1. Radiographs reveal nonspecific features of a joint effusion in PVNS, a focal soft-tissue mass in PVNB or PVNTS, or a normal appearance. Extrinsic erosion of bone (on both sides of the joint) may also be seen and is most frequent with intraarticular involvement of the hip (>90% of cases). Cross-sectional imaging reveals diffuse involvement of the synovium (PVNS), an intimate relationship to the tendon (PVTNS), or a typical bursal location (PVNB), findings that suggest the diagnosis. However, the magnetic resonance (MR) imaging findings of prominent low signal intensity (seen with T2-weighting) and "blooming" artifact from the hemosiderin (seen with gradient-echo sequences) are nearly pathognomonic of this diagnosis. In addition, MR imaging is optimal for evaluating lesion extent. This information is crucial to guide treatment and to achieve complete surgical resection. Recurrence is more common with diffuse intraarticular disease and is difficult to distinguish, both pathologically and radiologically, from the rare complication of malignant PVNS. Recognizing the appearances of the various types of PVNS, which reflect their pathologic characteristics, improves radiologic assessment and is important for optimal patient

  14. From the radiologic pathology archives imaging of osteonecrosis: radiologic-pathologic correlation.

    PubMed

    Murphey, Mark D; Foreman, Kristopher L; Klassen-Fischer, Mary K; Fox, Michael G; Chung, Ellen M; Kransdorf, Mark J

    2014-01-01

    Osteonecrosis is common and represents loss of blood supply to a region of bone. Common sites affected include the femoral head, humeral head, knee, femoral/tibial metadiaphysis, scaphoid, lunate, and talus. Symptomatic femoral head osteonecrosis accounts for 10,000-20,000 new cases annually in the United States. In contradistinction, metadiaphyseal osteonecrosis is often occult and asymptomatic. There are numerous causes of osteonecrosis most commonly related to trauma, corticosteroids, and idiopathic. Imaging of osteonecrosis is frequently diagnostic with a serpentine rim of sclerosis on radiographs, photopenia in early disease at bone scintigraphy, and maintained yellow marrow at MR imaging with a serpentine rim of high signal intensity (double-line sign) on images obtained with long repetition time sequences. These radiologic features correspond to the underlying pathology of osseous response to wall off the osteonecrotic process and attempts at repair with vascularized granulation tissue at the reactive interface. The long-term clinical importance of epiphyseal osteonecrosis is almost exclusively based on the likelihood of overlying articular collapse. MR imaging is generally considered the most sensitive and specific imaging modality both for early diagnosis and identifying features that increase the possibility of this complication. Treatment subsequent to articular collapse and development of secondary osteoarthritis typically requires reconstructive surgery. Malignant transformation of osteonecrosis is rare and almost exclusively associated with metadiaphyseal lesions. Imaging features of this dire sequela include aggressive bone destruction about the lesion margin, cortical involvement, and an associated soft-tissue mass. Recognizing the appearance of osteonecrosis, which reflects the underlying pathology, improves radiologic assessment and is important to guide optimal patient management. ©RSNA, 2014.

  15. A history of radiologic pathology correlation at the Armed Forces Institute of Pathology and its evolution into the American Institute for Radiologic Pathology.

    PubMed

    Murphey, Mark D; Madewell, John E; Olmsted, William W; Ros, Pablo R; Neiman, Harvey L

    2012-02-01

    The evolution of the Armed Forces Institute of Pathology (AFIP) has played an important role in the history of pathology education and in radiologic pathology correlation in the United States. From its humble beginnings as a museum, showcasing dried and varnished morbid specimens--human relics of the Civil War, the institute became a leader in pathology. Later, it became a center of instruction for radiology residents seeking to understand the pathologic findings that underlay the radiologic appearance of disease. Images were gathered by the AFIP and the American Registry of Pathology (ARP) and have been used in research and education in radiology and other fields (ophthalmology, otalaryngology, dermatology, obstetrics and gynecology, and surgery). Despite the contributions of the AFIP, the ARP, and the Radiologic Pathology Correlation Course, high-ranking members of the military and the federal government frowned on a military-owned educational system that also served civilians. Although support from the radiology community dissuaded military officers and federal officials from taking action against the participation of civilians, the 2005 Base Realignment and Closure (BRAC) provisions mandated the disestablishment of the AFIP, forcing the redistribution of some of its resources to other military-only organizations and disbanding other AFIP functions. To ensure that the correlation course, known to radiology residents as the "rad-path" course, was not a casualty of the BRAC, the American College of Radiology (ACR) and leaders of the AFIP and ARP agreed that the ACR should continue this vital educational endeavor. In January 2011, the American Institute for Radiologic Pathology of the ACR debuted and successfully instructed 268 radiology residents, including 40 international residents. The faculty and staff, who had been part of the course at the AFIP, continue to help enrich and improve the course established by their predecessors.

  16. Radiologic-Pathologic Correlation of Hepatocellular Carcinoma Treated with Chemoembolization

    SciTech Connect

    Riaz, Ahsun; Lewandowski, Robert J.; Kulik, Laura; Ryu, Robert K.; Mulcahy, Mary F.; Baker, Talia; Gates, Vanessa; Nayar, Ritu; Wang, Ed; Miller, Frank H.; Sato, Kent T.; Omary, Reed A.; Abecassis, Michael; Salem, Riad

    2010-12-15

    To correlate posttreatment radiologic and pathologic findings in patients who underwent transarterial chemoembolization before transplantation or resection. Thirty-five patients with postchemoembolization follow-up imaging underwent liver transplantation/resection. Pre- and posttreatment contrast-enhanced magnetic resonance imaging were used to evaluate radiologic findings. Imaging characteristics using World Health Organization (WHO) and European Association for the Study of the Liver (EASL) criteria after treatment were evaluated. Treated lesions were examined by pathology (gold standard) for the assessment of necrosis. Radiologic findings on magnetic resonance imaging were correlated to pathologic findings to assess the predictability by imaging of actual necrosis. Kappa ({kappa}) statistics were used to determine intermethod agreement between WHO and EASL criteria. Fourteen (40%) of 35 lesions had biopsy-proven hepatocellular carcinoma. Thirteen (37%) of 35 target lesions showed complete pathologic necrosis. Complete pathologic necrosis was seen in 35% of lesions with pretreatment size <3 cm. Complete pathologic necrosis was seen in 1 (100%) of 1, 6 (67%) of 9, 6 (33%) of 18, and 0 (0%) of 7 of the lesions that exhibited complete response (CR), partial response (PR), stable disease (SD), or progressive disease (PD) by WHO criteria, respectively. Complete pathologic necrosis was seen in 9 (82%) of 11, 4 (36%) of 11, 0 (0%) of 8, and 0 (0%) of 5 of the lesions that showed CR, PR, SD, or PD by EASL criteria, respectively. EASL CR and WHO response were shown to have {>=}85% specificity for predicting complete pathologic necrosis. The {kappa} coefficient for agreement between WHO and EASL was 0.29. EASL and WHO criteria had minimal intermethod agreement. EASL CR and WHO response were able to predict pathologic necrosis.

  17. CT of xanthogranulomatous pyelonephritis: radiologic-pathologic correlation

    SciTech Connect

    Goldman, S.M.; Hartman, D.S.; Fishman, E.K.; Finizio, J.P.; Gatewood, O.M.B.; Siegelman, S.S.

    1984-05-01

    A clinical-radiologic-patholoigc correlation study was performed in 18 (17 female) patients with xanthogranulomatous pyelonephritis (XGP) with CT scans available for analysis. In 14 patients, the disease was diffuse; the kidney was enlarged with preservation of the reniform outline in 13. The renal pelvis, lined with sheets of lipid-laden macrophages and surrounded by a marked fibrotic reaction, was contracted in 11 and contained pelvic calculi in 12. There was CT identification of unsuspected extension through the renal capsule with involvement of the perirenal space in 11 patients, the pararenal spaces in 13, and the psoas muscle in six. There were four cases of focal XGP that appeared on CT as low-density mass lesions with wall enhancement surrounding dilated, stone-filled calices or as focal masses occupying one pole of a duplication. The preoperative diagnosis of XGP was suspected in only 44% of cases. It is concluded that CT should play a role in diagnosis and preoperative planning to demonstrate the extent of extrarenal disease that is poorly depicted by other means.

  18. Eumycetoma Osteomyelitis of the Calcaneus in a Child: A Radiologic-Pathologic Correlation following Total Calcanectomy

    PubMed Central

    EL-Sobky, Tamer Ahmed; Haleem, John Fathy; Samir, Shady

    2015-01-01

    Fungi are unusual causes of pedal osteomyelitis in children and adolescents. Eumycetoma is a chronic cutaneous and subcutaneous infection caused by various genera of fungi. A provisional diagnosis of foot mycetoma is made after clinical assessment. Radiologic-pathologic correlation is an essential supplement for the accurate diagnosis of osteoarticular infections. This paper aims to sensitize orthopedic surgeons, radiologists, and pathologists to the importance of correlative imaging findings in relation to surgical and microscopic pathology in osteoarticular infections, specifically eumycetoma osteomyelitis of the foot. From our review of the published data, the present case is the first report of radiologic-pathologic correlation in eumycetoma osteomyelitis of the calcaneus. This paper describes a case of eumycetoma osteomyelitis of the calcaneus in a child in which diagnostic X-rays and magnetic resonance imaging (MRI) were correlated with the surgical and microscopic pathologic features, for establishing an appropriate diagnosis and treatment. We conclude that there is a significant agreement between radiologic and pathologic evaluation for assessment of eumycetoma osteomyelitis of the calcaneus. Radiologic-pathologic correlation amplified our interpretation of imaging information available on plain radiographs and MRI and augmented diagnostic confidence. Similarly, anatomic-histopathological correlations consolidated diagnostic accuracy. PMID:26483983

  19. Eumycetoma Osteomyelitis of the Calcaneus in a Child: A Radiologic-Pathologic Correlation following Total Calcanectomy.

    PubMed

    El-Sobky, Tamer Ahmed; Haleem, John Fathy; Samir, Shady

    2015-01-01

    Fungi are unusual causes of pedal osteomyelitis in children and adolescents. Eumycetoma is a chronic cutaneous and subcutaneous infection caused by various genera of fungi. A provisional diagnosis of foot mycetoma is made after clinical assessment. Radiologic-pathologic correlation is an essential supplement for the accurate diagnosis of osteoarticular infections. This paper aims to sensitize orthopedic surgeons, radiologists, and pathologists to the importance of correlative imaging findings in relation to surgical and microscopic pathology in osteoarticular infections, specifically eumycetoma osteomyelitis of the foot. From our review of the published data, the present case is the first report of radiologic-pathologic correlation in eumycetoma osteomyelitis of the calcaneus. This paper describes a case of eumycetoma osteomyelitis of the calcaneus in a child in which diagnostic X-rays and magnetic resonance imaging (MRI) were correlated with the surgical and microscopic pathologic features, for establishing an appropriate diagnosis and treatment. We conclude that there is a significant agreement between radiologic and pathologic evaluation for assessment of eumycetoma osteomyelitis of the calcaneus. Radiologic-pathologic correlation amplified our interpretation of imaging information available on plain radiographs and MRI and augmented diagnostic confidence. Similarly, anatomic-histopathological correlations consolidated diagnostic accuracy.

  20. Solid tumors of the peritoneum, omentum, and mesentery in children: radiologic-pathologic correlation: from the radiologic pathology archives.

    PubMed

    Chung, Ellen M; Biko, David M; Arzamendi, Aaron M; Meldrum, Jaren T; Stocker, J Thomas

    2015-01-01

    Intraperitoneal solid tumors are far less common in children than in adults, and the histologic spectrum of neoplasms of the peritoneum and its specialized folds in young patients differs from that in older patients. Localized masses may be caused by inflammatory myofibroblastic tumor, Castleman disease, mesenteric fibromatosis, or other mesenchymal masses. Inflammatory myofibroblastic tumor is a mesenchymal tumor of borderline biologic potential that appears as a solitary circumscribed mass, possibly with central calcification. Castleman disease is an idiopathic lymphoproliferative disorder that appears as a circumscribed, intensely enhancing mass in the mesentery. Mesenteric fibromatosis, or intra-abdominal desmoid tumor, is a benign tumor of mesenchymal origin associated with familial adenomatous polyposis. Mesenteric fibromatosis appears as a mildly enhancing, circumscribed solitary mass without metastases. Diffuse peritoneal disease may be due to desmoplastic small round cell tumor (DSRCT), non-Hodgkin lymphoma, or rhabdomyosarcoma. DSRCT is a rare member of the small round blue cell tumor family that causes diffuse peritoneal masses without a visible primary tumor. A dominant mass is typically found in the retrovesical space. Burkitt lymphoma is a pediatric tumor that manifests with extensive disease because of its short doubling time. The bowel and adjacent mesentery are commonly involved. Rhabdomyosarcoma may arise as a primary tumor of the omentum or may spread from a primary tumor in the bladder, prostate, or scrotum. Knowledge of this spectrum of disease allows the radiologist to provide an appropriate differential diagnosis and suggest proper patient management.

  1. Adenoid Cystic Carcinoma of the Oral Cavity: Radiology-Pathology Correlation.

    PubMed

    Uraizee, Imran; Cipriani, Nicole A; Ginat, Daniel T

    2017-09-06

    Adenoid cystic carcinoma in the oral cavity is an uncommon salivary gland malignancy that has a propensity for perineural spread. A high-grade variant is evidenced by an abundance of pleomorphic cells, loss of the classic biphasic epithelial-myoepithelial growth pattern, and comedonecrosis, as well as elevated Ki-67. CT and MRI can both be useful for demonstrating the extent of invasion in oral cavity-associated adenoid cystic carcinoma, which can attain the inferior alveolar nerve for perineural spread by direct invasion through the mandible. Reflecting the aggressive nature of this high-grade malignancy, (18)FDG-PET can demonstrate hypermetabolism and can be useful for staging. These features are exemplified in this sine qua non radiology-pathology correlation article.

  2. Cystic lung lesions in Sjogren syndrome: analysis of lymphocyte subsets in tissue with clinico-radiologic-pathologic correlation.

    PubMed

    Jagirdar, Jaishree; Chikkamuniyappa, Shylashree; Sirohi, Deepika; McCarthy, Michael J; Peters, Jay I

    2013-02-01

    Pulmonary complications associated with Sjögren syndrome (SS) have attracted attention in recent years. Sjögren syndrome has been associated with small cyst formation in salivary glands, thymus, and lungs and has been recently brought to the forefront by radiologists due to high-resolution techniques. However, pathologists are less aware of this finding unless clinico-radiologic-pathologic correlation is sought. Formation of large bullae in SS is a rare complication with potential for confusion with other diseases. Here, we present the clinical, radiologic, and pathologic findings in 3 patients with SS associated with multiple pulmonary cystic lesions. All 3 patients had a variable mixed restrictive and obstructive component of the disease. There was good correlation with the pulmonary function tests (PFTs), high-resolution computed tomographic scan, and morphology with regard to the restrictive component. The small cysts appear to correlate with the extent of obstructive changes on the PFTs. However, the large bullae do not, implying noncommunication with the conducting airways. This noncorrelation between the PFTs and extent of bullous disease with predominant involvement of lower lobes in SS enables distinction from bullous emphysema. The mechanism of bulla formation in SS appears to be different from bullous emphysema. A check valve mechanism has been proposed previously in SS, which does not explain cyst formation in the thymus. Alternately, inflammation may play a role with the key suspects being CD4 T-helper cells and perhaps NK cells. This is the first report of a clinico-radiologic-pathologic correlation with analysis of lymphocyte subsets.

  3. Radiological-Pathological Correlations Following Blast-Related Traumatic Brain Injury in the Whole Human Brain Using ex Vivo Diffusion Tensor Imaging

    DTIC Science & Technology

    2014-01-01

    2-0072 TITLE: Radiological -Pathological Correlations Following Blast-Related Traumatic Brain Injury in the Whole Human Brain Using ex Vivo...January 2014 2. REPORT TYPE Annual 3. DATES COVERED (From - To) 1 January 2012-31 December 2013 4. TITLE AND SUBTITLE Radiological -Pathological... radiological -pathological correlations using whole human brains from civilian TBI fatalities and US military fatalities caused by blast-related

  4. Solid pseudopapillary neoplasm of the pancreas: CT imaging features and radiologic-pathologic correlation

    PubMed Central

    Anil, Gopinathan; Zhang, Junwei; Al-Hamar, Nawal Ebrahim; Nga, Min En

    2017-01-01

    PURPOSE We aimed to evaluate the imaging features of solid pseudopapillary neoplasm (SPN) of the pancreas with an emphasis on radiologic-pathologic correlation. METHODS Ten patients (all female; mean age, 32 years) with histologic or cytologic diagnosis of SPN encountered between January 2007 and December 2013 were included in this study. Preoperative computed tomography (CT) images were reviewed for location, attenuation, enhancement pattern, margin, shape, size, morphology, presence of capsule and calcification. CT appearances were correlated with histopathologic findings. RESULTS Tumors in the distal pancreatic body and tail had a tendency to be larger (mean size 12.6 cm vs. 4.0 cm). Six of the nine tumors that were resected had a fibrous pseudocapsule at histology, five of which could be identified on CT scan. Eight lesions had mixed hypoenhancing solid components and cystic areas corresponding to tumor necrosis and hemorrhage. The two smallest lesions were purely solid and nonencapsulated. Varied patterns of calcification were seen in four tumors. Three of the four pancreatic tail tumors invaded the spleen. At a median follow-up of 53 months, there was no evidence of recurrence in the nine patients who underwent surgical resection of the tumor. CONCLUSION A mixed solid and cystic pancreatic mass in a young woman is suggestive of SPN. However, smaller lesions may be completely solid. Splenic invasion can occur in pancreatic tail SPNs; however, in this series it did not adversely affect the long-term outcome. PMID:28089954

  5. Infantile hemangioendothelioma of the liver: a radiologic-pathologic-clinical correlation

    SciTech Connect

    Dachman, A.H.; Lichtenstein, J.E.; Friedman, A.C.; Hartman, D.S.

    1983-06-01

    Infantile hemangioendothelioma is the most common symptomatic vascular liver tumor of infancy. It is considered a benign tumor; however, aggressive behavior is occasionally seen microscopically, and rarely distant metastases have been reported. The exact incidence of infantile hemangioendothelioma is difficult to determine because often it has been either misdiagnosed or mislabeled as cavernous hemangioma in the literature. Cavernous hemangioma is the most common primary liver tumor in older age groups but is rarely found in infants as a clinically significant tumor. Levick and Rubie were the first to recognize an association between hemangioendothelioma of the liver and congestive heart failure, and there were subsequent reports substantiating this association. However, it is our impression and the finding of others that congestive heart failure is distinctly less common than abdominal mass or hepatomegaly as the presenting sign in infantile hemangioendothelioma. Congestive heart failure is rarely a feature of cavernous hemangioma. Because of the errors in terminology and questions regarding clinical presentation, a radiologic-pathologic-clinical correlation study of infantile hemangioendothelioma and review of the literature was undertaken.

  6. Bacterial, Fungal, and Parasitic Infections of the Central Nervous System: Radiologic-Pathologic Correlation and Historical Perspectives.

    PubMed

    Shih, Robert Y; Koeller, Kelly K

    2015-01-01

    Despite remarkable progress in prevention and treatment, infectious diseases affecting the central nervous system remain an important source of morbidity and mortality, particularly in less-developed countries and in immunocompromised persons. Bacterial, fungal, and parasitic pathogens are derived from living organisms and affect the brain, spinal cord, or meninges. Infections due to these pathogens are associated with a variety of neuroimaging patterns that can be appreciated at magnetic resonance imaging in most cases. Bacterial infections, most often due to Streptococcus, Haemophilus, and Neisseria species, cause significant meningitis, whereas the less common cerebritis and subsequent abscess formation have well-documented progression, with increasingly prominent altered signal intensity and corresponding contrast enhancement. Atypical bacterial infections are characterized by the development of a granulomatous response, classically seen in tuberculosis, in which the tuberculoma is the most common parenchymal form of the disease; spirochetal and rickettsial diseases are less common. Fungal infections predominate in immunocompromised hosts and are caused by yeasts, molds, and dimorphic fungi. Cryptococcal meningitis is the most common fungal infection, whereas candidiasis is the most common nosocomial infection. Mucormycosis and aspergillosis are characterized by angioinvasiveness and are associated with high morbidity and mortality among immunocompromised patients. In terms of potential exposure in the worldwide population, parasitic infections, including neurocysticercosis, toxoplasmosis, echinococcosis, malaria, and schistosomiasis, are the greatest threat. Rare amebic infections are noteworthy for their extreme virulence and high mortality. The objective of this article is to highlight the characteristic neuroimaging manifestations of bacterial, fungal, and parasitic diseases, with emphasis on radiologic-pathologic correlation and historical perspectives.

  7. [Clinical, radiologic, pathological features and diagnosis of 14 cases with interstitial lung disease in children].

    PubMed

    2011-02-01

    The pediatric interstitial lung disease is a group of poorly understood disease entities. This study aimed to better understand the clinical features, radiological manifestations and pathological patterns of pediatric interstitial lung disease. Patients with diffuse lung disease seen in the year 2009 in 7 hospitals were studied by the Pediatric Interstitial Lung Disease Cooperative Group. Nineteen patients underwent lung biopsy, 11 cases were male, 8 were female and their age ranged from 1 year and 4 months to 13 years. Respiratory tract secretions were obtained for bacterial culture, respiratory virus antigen examination, mycoplasma antibody, EB virus, cytomegalovirus, and herpes simplex viruses antibody detection were performed. The CT or HRCT of the lung and blood-gas analysis and lung biopsy were performed for all the patients. One case underwent open lung biopsy, two cases received percutaneous biopsy, and other 16 cases were experienced video-assisted thoracoscopic biopsy. Five cases had been excluded, for one case had fungal infection, one had abnormal pneumoangiogram, one had sclerosing hemangioma, and two had no sufficient data. The remaining 14 cases were included into the analysis. All the 14 cases had cough, 12 of them also had tachypnoea, four cases had rales and five had clubbing. High resolution CT showed that 12 cases had ground-glass opacification, 1 had diffuse micronodular opacities, the pathological pattern of this case was pulmonary alveolar microlithiasis, and in the case of diffuse reticulonodular opacities and cysts, the pathology of the lung was NSIP. All the 14 cases had the proof of the diagnosis or the type of the pathology. Four cases were diagnosed by pathology of the lung, including 1 case of pulmonary alveolar microlithiasis, 2 cases of pulmonary alveolar proteinosis, 1 case of lipoid pneumonia. Clinical-radiologic-pathologic (C-R-P) diagnosis of the other 10 cases were as follows: 4 cases had secondary interstitial lung disease, one

  8. Cerebral Blastomycosis: Radiologic-Pathologic Correlation of Solitary CNS Blastomycosis Mass-Like Infection.

    PubMed

    Stavrakis, Costas; Narayan, Ananth; Voronel, Olga

    2015-01-01

    Blastomycosis is a fungal infection rarely seen in clinical practice. Endemic to the Midwestern United States as well as the Canadian provinces of Manitoba and Ontario, Blastomyces dermatitidis characteristically involves the skin and lungs. Central nervous system (CNS) involvement, although a rare complication of this disease, can be fatal. The current literature on CNS blastomycosis primarily centers on the spectrum of traditional imaging features of T1- and T2-weighted imaging with which this entity can present. However, here we present the direct histopathologic correlation of the imaging findings of solitary mass like CNS blastomycosis, with an emphasis on the association of diffusion restriction within the lesion with a granulomatous immune response.

  9. Fungal diseases mimicking primary lung cancer: radiologic-pathologic correlation.

    PubMed

    Gazzoni, Fernando F; Severo, Luiz Carlos; Marchiori, Edson; Irion, Klaus L; Guimarães, Marcos D; Godoy, Myrna C; Sartori, Ana P G; Hochhegger, Bruno

    2014-04-01

    A variety of fungal pulmonary infections can produce radiologic findings that mimic lung cancers. Distinguishing these infectious lesions from lung cancer remains challenging for radiologists and clinicians. In such cases, radiographic findings and clinical manifestations can be highly suggestive of lung cancer, and misdiagnosis can significantly delay the initiation of appropriate treatment. Likewise, the findings of imaging studies cannot replace the detection of a species as the aetiological agent. A biopsy is usually required to diagnose the infectious nature of the lesions. In this article, we review the clinical, histologic and radiologic features of the most common fungal infections that can mimic primary lung cancers, including paracoccidioidomycosis, histoplasmosis, cryptococcosis, coccidioidomycosis, aspergillosis, mucormycosis and blastomycosis.

  10. Myofibroblastoma of the male breast: a rare entity with radiologic-pathologic correlation.

    PubMed

    Comer, John D; Cui, Xiaoyan; Eisen, Carolyn Sharyn; Abbey, Genevieve; Arleo, Elizabeth Kagan

    A 73-year old man with a history of multiple genitourinary malignancies was found to have a left retroareolar soft tissue mass on CT assessment of disease, and dedicated breast imaging was recommended. Diagnostic mammography and ultrasonography confirmed a solid mass, for which biopsy was recommended. Pathologic analysis demonstrated a spindle cell neoplasm with an immunoreactivity pattern consistent with myofibroblastoma. While this entity is benign, nonspecific imaging features necessitate tissue sampling for pathologic diagnosis, and, given pathologic rarity, open communication between the radiologist and pathologist is important to establish the correct diagnosis and to recommend appropriate management. Copyright © 2016 Elsevier Inc. All rights reserved.

  11. Cutaneous caves and subcutaneous adipose columns in the breast: radiologic-pathologic correlation.

    PubMed

    Kopans, Daniel B; Rusby, Jennifer E

    2008-12-01

    To investigate the histologic correlations of the innumerable 2-3-mm radiolucencies that project over the breast, as seen on mammograms. With institutional review board approval and HIPAA compliance, this work involved detailed x-ray imaging of discarded tissue from two mastectomy specimens, together with histologic examination of the skin and subcutaneous fat and evaluation of the skin during reduction mammoplasty surgery in two patients. Comparison of the histologic findings with the findings on x-ray images demonstrated that the lucencies seen by using mammography are cutaneous caves in the underside of the dermis into which insert columns of fat projecting up from the subcutaneous adipose tissue. This finding was confirmed with evaluation of the skin during reduction surgery. As far as is known, this is the first description of a complex of anatomic structures that explain radiolucencies evident by using mammography. RSNA, 2008

  12. Computed tomography of the anterior mediastinum in myasthemia gravis: a radiologic-pathologic correlative study

    SciTech Connect

    Fon, G.T.; Bein, M.E.; Mancuso, A.A.; Keesey, J.C.; Lupetin, A.R.; Wong, W.S.

    1982-01-01

    Chest radiographs and computed tomographic (CT) scans of the mediastinum were correlated with pathologic findings of the thymus following thymectomy in 57 patients with myasthenia gravis. Based on the patient's age and the overall morphology of the anterior mediastinum, CT scans were assigned one of four grades in an attempt to predict thymus pathologic findings. Using this grading, 14 of 16 cases of thymoma were suspected or definitely diagnosed. One of the two cases not diagnosed on CT was a microscopic tumor. There were no false-positive diagnoses in 11 cases graded as definitely thymoma. We conclude that thymoma can be sensitively diagnosed in patients older than 40 years of age. However, thymoma cannot be predicted with a high level of confidence in patients younger than 40 because of the difficulty in differentiating normal thymus or hyperplasia from thymoma. Recommendations for the use of CT in the preoperative evaluation of myasthenic patients are presented.

  13. Solitary fibrous tumors in abdomen and pelvis: imaging characteristics and radiologic-pathologic correlation.

    PubMed

    Li, Xue-Ming; Reng, Jing; Zhou, Peng; Cao, Ying; Cheng, Zhu-Zhong; Xiao, Yan; Xu, Guo-Hui

    2014-05-07

    To describe the imaging features of solitary fibrous tumors (SFTs) in the abdomen and pelvis, and the clinical and pathologic correlations. Fifteen patients with pathologically confirmed SFTs in the abdomen and pelvis were retrospectively studied with imaging techniques by two radiologists in consensus. Patients underwent unenhanced and contrast-enhanced imaging, as follows: 3 with computed tomography (CT) and magnetic resonance imaging (MRI) examination, 8 with CT examination only, and 4 with MRI examination only. Image characteristics such as size, shape, margin, attenuation or intensity, and pattern of enhancement were analyzed and correlated with the microscopic findings identified from surgical specimens. In addition, patient demographics, presentation, and outcomes were recorded. Of the 15 patients evaluated, local symptoms related to the mass were found in 11 cases at admission. The size of the mass ranged from 3.4 to 25.1 cm (mean, 11.5 cm). Nine cases were round or oval, 6 were lobulated, and 10 displaced adjacent organs. Unenhanced CT revealed a heterogeneous isodense mass in 7 cases, homogeneous isodense mass in 3 cases, and punctuated calcification in one case. On MRI, most of the lesions (6/7) were heterogeneous isointense and heterogeneous hyperintense on T1-weighted images and T2-weighted images, respectively. All tumors showed moderate to marked enhancement. Heterogeneous enhancement was revealed in 11 lesions, and 7 of these had cysts, necrosis, or hemorrhage. Early nonuniform enhancement with a radial area that proved to be a fibrous component was observed in 4 lesions, which showed progressive enhancement in the venous and delayed phase. No statistical difference in the imaging findings was observed between the histologically benign and malignant lesions. Three patients had local recurrence or metastasis at follow-up. Abdominal and pelvic SFTs commonly appeared as large, solid, well-defined, hypervascular masses with variable degrees of necrosis

  14. From the archives of the AFIP: breast masses in children and adolescents: radiologic-pathologic correlation.

    PubMed

    Chung, Ellen M; Cube, Regino; Hall, Gregory J; González, Candela; Stocker, J Thomas; Glassman, Leonard M

    2009-01-01

    The spectrum of breast lesions in children and adolescents varies markedly from that for adults, with the former lesions being overwhelmingly benign. A breast mass in a young boy or girl may arise from normal and abnormal breast development. Other causes of masses include infection, trauma, and cyst formation. After onset of puberty, most cases of breast enlargement arise from benign fibroadenoma in girls and gynecomastia in boys. These conditions have specific imaging appearances, although juvenile (often giant) fibroadenoma cannot be distinguished from phyllodes tumor, which can be benign or malignant. In children, both conditions usually appear as well-circumscribed, hypoechoic masses at sonography and show diffuse enhancement except for nonenhancing septations at magnetic resonance imaging. A diagnosis of juvenile papillomatosis (a benign lesion) portends later development of breast cancer, and patients with this condition should be closely monitored. Malignant lesions of the breast in children are rare. The most common malignant lesions are metastases and are usually associated with widespread disease. The most common primary breast malignancy is malignant phyllodes tumor. Primary breast carcinoma is exceedingly rare in the pediatric age group, but its imaging appearance in children is the same as seen in adults and is different from that of almost all benign lesions. In girls, diagnostic interventions may injure the developing breast and cause subsequent disfigurement. Given this risk and the low prevalence of malignant disease in this population, a prudent course should be followed in the diagnosis of breast lesions. Imaging findings are very helpful for selecting patients for further diagnostic procedures. Although malignancy is rare, lesions with suspicious imaging findings or progressive growth should be subjected to cytologic or histologic examination.

  15. Irreversible Electroporation of Hepatic and Pancreatic Malignancies: Radiologic-Pathologic Correlation.

    PubMed

    Gonzalez-Beicos, Aldo; Venkat, Shree; Songrug, Tanakorn; Poveda, Julio; Garcia-Buitrago, Monica; Poozhikunnath Mohan, Prasoon; Narayanan, Govindarajan

    2015-09-01

    Irreversible electroporation (IRE) is a novel therapy that has shown to be a feasible and promising alternative to conventional ablative techniques when treating tumors near vital structures or blood vessels. The clinical efficacy of IRE has been evaluated using established imaging criteria. This study evaluates the histologic and imaging response of hepatic and pancreatic malignancies that were surgically resected after IRE. In total, 12 lesions ablated with IRE were included, including 3 pancreatic carcinomas, 5 primary tumors of the liver, and 4 metastatic tumors of the liver. The rate of complete response to IRE was 25% based on the histologic evaluation of the resected tumors. Although treatment-related vessel wall changes were noted in several cases in histologic findings, there was no evidence of vascular luminal narrowing or obliteration in any of the specimens. The imaging response to IRE before surgical resection usually resulted in underestimation of disease burden when compared with the histologic response seen on the resected specimens. Copyright © 2015 Elsevier Inc. All rights reserved.

  16. Ten uncommon and unusual variants of renal angiomyolipoma (AML): radiologic-pathologic correlation.

    PubMed

    Schieda, N; Kielar, A Z; Al Dandan, O; McInnes, M D F; Flood, T A

    2015-02-01

    Classic (triphasic) renal angiomyolipoma (AML) is currently classified as a neoplasm of perivascular epithelioid cells. For diagnosis of AML, the use of thin-section non-contrast enhanced CT (NECT) improves diagnostic accuracy; however, identifying gross fat within a very small AML is challenging and often better performed with chemical-shift MRI. Although the presence of gross intra-tumoural fat is essentially diagnostic of AML; co-existing intra-tumoural fat and calcification may represent renal cell carcinoma (RCC). Differentiating AML from retroperitoneal sarcoma can be difficult when AML is large; the feeding vessel and claw signs are suggestive imaging findings. AML can haemorrhage, with intra-tumoural aneurysm size >5 mm a more specific predictor of future haemorrhage than tumor size >4 cm. Diagnosis of AML in the setting of acute haemorrhage is complex; comparison studies or follow-up imaging may be required. Not all AML contain gross fat and imaging features of AML without visible fat overlap with RCC; however, homogeneity, hyperdensity at NECT, low T2-weighted signal intensity and, microscopic fat are suggestive features. Patients with tuberous sclerosis often demonstrate a combination of classic and minimal fat AML, but are also at a slightly increased risk for RCC and should be imaged cautiously. Several rare pathological variants of AML exist including AML with epithelial cysts and epithelioid AML, which have distinct imaging characteristics. Classic AML, although benign, can be locally invasive and the rare epithelioid AML can be frankly malignant. The purpose of this review is to highlight the imaging manifestations of 10 uncommon and unusual variants of AML using pathological correlation.

  17. Sclerosing angiomatoid nodular transformation of the spleen (SANT): multimodality imaging appearance of five cases with radiology-pathology correlation.

    PubMed

    Raman, Siva P; Singhi, Aatur; Horton, Karen M; Hruban, Ralph H; Fishman, Elliot K

    2013-08-01

    Sclerosing angiomatoid nodular transformation (SANT) is an extremely rare splenic lesion first reported in 2004, representing an unusual reaction of splenic red pulp to stromal inflammation or vascular injury. There are very few descriptions of the imaging appearance of SANT in the literature. We present five pathologically proven cases of SANT, with a description of the imaging appearance using multiple different modalities, as well as correlation with the histopathologic features of the lesion. While there are several imaging features of SANT which have been described in the literature, it is not routinely possible to make a prospective diagnosis based on the imaging features alone. Moreover, it may not be possible to exclude malignancy based on the imaging features, and splenectomy may be required in certain cases.

  18. Role of EASL, RECIST and WHO Response Guidelines Alone or in Combination for Hepatocellular Carcinoma: Radiologic-Pathologic Correlation

    PubMed Central

    Riaz, Ahsun; Memon, Khairuddin; Miller, Frank H.; Nikolaidis, Paul; Kulik, Laura M.; Lewandowski, Robert J.; Ryu, Robert K.; Sato, Kent T.; Gates, Vanessa L.; Mulcahy, Mary F.; Baker, Talia; Wang, Ed; Gupta, Ramona; Nayar, Ritu; Benson, Al B; Abecassis, Michael; Omary, Reed; Salem, Riad

    2010-01-01

    Purpose We sought to study receiver-operating characteristics (ROC) of the European Association for the Study of the Liver (EASL), Response Evaluation Criteria in Solid Tumors (RECIST) and World Health Organization (WHO) guidelines of assessing response following locoregional therapies individually and in various combinations. Methods Eighty-one patients with hepatocellular carcinoma underwent liver explantation following locoregional therapies. Response was assessed using EASL, RECIST and WHO. Kappa statistics were used to determine inter-method agreement. Uni/multivariate logistic regression analyses were performed to determine the variables predicting complete pathologic necrosis. Numerical values were assigned to the response classes: complete response=0, partial response=1, stable disease=2 and progressive disease=3. Various mathematical combinations of EASL and WHO were tested to calculate scores and their ROCs were studied using pathological examination of the explant as the gold standard. Results Median times (95% CI) to WHO, RECIST and EASL response were 5.3 (4–11.5), 5.6 (4–11.5) and 1.3 months (1.2–1.5) respectively. Kappa coefficients for WHO/RECIST, WHO/EASL and RECIST/EASL were 0.78, 0.28 and 0.31 respectively. EASL response demonstrated significant odds ratios for predicting complete pathologic necrosis on uni/multivariate analyses. Calculated areas under the ROC curves were: RECIST: 0.63, WHO: 0.68, EASL: 0.82, EASL+WHO: 0.82, EASLxWHO: 0.85, EASL+(2xWHO): 0.79 and (2xEASL)+WHO: 0.85. An EASLxWHO Score of ≤ 1 had 90.2% sensitivity for predicting complete pathologic necrosis. Conclusion The product of WHO and EASL demonstrated better ROC than the individual guidelines for assessment of tumor response. The EASLxWHO Scoring System provides a simple and clinically applicable method of response assessment following locoregional therapies for hepatocellular carcinoma. PMID:21147504

  19. Optical mammography: a new technique for visualizing breast lesions in women presenting non palpable BIRADS 4-5 imaging findings: preliminary results with radiologic-pathologic correlation.

    PubMed

    Athanasiou, Alexandra; Vanel, Daniel; Fournier, Laure; Balleyguier, Corinne

    2007-02-28

    The purpose of this prospective study is to determine the diagnostic accuracy of near-infrared breast optical absorption imaging in patients with Breast Imaging Reporting and Data System (BIRADS) 4-5 non-palpable lesions scheduled for biopsy, using pathology after core or excisional biopsy as a reference. The patient's breast was positioned onto a panel of red light-emitting diodes (640 nm). A soft membrane was inflated to exert a uniform pressure on the breast. Transmitted light was detected using a CCD camera. The entire acquisition sequence took 1 minute. Image processing generated dynamic images displayed in colour scale, to reveal time-dependent changes in the transmitted light intensity caused by the pressure change. Dynamic curves were classified in two categories: consistently decreasing intensity suspicious for malignancy, and sinusoidal increasing intensity considered as benign. Seventy-eight women consulting for non-palpable breast lesions were initially included in the study. An imaging-histology correlation was obtained for seventy-two patients, the remaining six patients were excluded for technical optical scan reasons. We experienced an overall sensitivity of 73% and specificity of 38%, the false negative results being mainly small size (<10 mm) infiltrating malignant lesions and ductal carcinoma in situ (DCIS). False positive results were seen in benign proliferative lesions. Dynamic optical breast imaging is a novel, low-cost, non-invasive technique yielding a new type of information about the physiology of breast lesions. Absorption is due to haemoglobin and its products, therefore reflecting the angiogenic status of breast tumours.

  20. [Dedifferentiated chondrosarcoma: radiologic-pathologic correlation].

    PubMed

    Bierry, G; Feydy, A; Larousserie, F; Pluot, E; Guerini, H; Campagna, R; Dufau-Andreu, C; Anract, P; Babinet, A; Dietemann, J L; Chevrot, A; Drapé, J L

    2010-03-01

    Dedifferentiated chondrosarcomas are highly malignant tumors characterized by conventional low-grade chondrosarcoma with abrupt transition to foci that have dedifferentiated into a higher-grade noncartilaginous more aggressive sarcoma. The dedifferentiated component, an osteosarcoma or fibrosarcoma, determines the prognosis. Its identification is key for management. A diagnosis of dedifferentiated chondrosarcoma should be suggested by the presence of "tumoral dimorphism" with cartilaginous component and aggressive lytic component invading adjacent soft tissues.

  1. Paratesticular Liposarcoma: A Radiologic Pathologic Correlation

    PubMed Central

    Pergel, Ahmet; Yucel, Ahmet Fikret; Aydin, Ibrahim; Sahin, Dursun Ali; Gucer, Hasan; Kocakusak, Ahmet

    2011-01-01

    Spermatic cord liposarcoma is an uncommon paratesticular tumor. Patients usually present with a painless scrotal or inguinal mass, mimicking inguinal hernia. Clinical examination suggested an inguinal hernia. Computed tomography demonstrated a fat-containing mass in the right inguinal region. The mass was surgically removed, along with the right testis and spermatic cord. Histopathological examination revealed a well-differentiated liposarcoma. No evidence of recurrence or metastases has been noted during the two-year follow-up with postoperative adjuvant therapy. PMID:22267992

  2. Breast Intraductal Papillomas without Atypia in Radiologic-Pathologic Concordant Core Needle Biopsies: Predictors of Upgrade to Carcinoma at Excision

    PubMed Central

    Pareja, Fresia; Corben, Adriana; Brennan, Sandra; Murray, Melissa P.; Bowser, Zenica; Jakate, Kiran; Sebastiano, Christopher; Morrow, Monica; Morris, Elizabeth; Brogi, Edi

    2016-01-01

    Background The surgical management of breast intraductal papilloma without atypia (IDP) identified at core needle biopsy (CNB) is controversial. We assessed the rate of upgrade to carcinoma at surgical excision, and identified parameters predictive of upgrade. Methods We identified women with CNB diagnosis of intraductal papilloma without atypia or carcinoma at our center between 2003 and 2013. Radiologic-pathologic concordance was assessed for all cases, and discordant cases were excluded. We correlated the radiologic and clinicopathologic features of patients with CNB diagnosis of IDP with upgrade to carcinoma at surgical excision. Results Our study population consists of 189 women with 196 IDPs; 166 women (171 IDPs) underwent excision. The upgrade rate was 2.3% (4/171). The upgrade lesions were 2 invasive lobular carcinomas and 2 cases of ductal carcinoma in situ (DCIS). One case of DCIS involved the residual IDP, whereas the other 3 carcinomas were ≥8 mm away. Twenty-four women (25 IDPs) did not undergo excision, and had stable imaging at follow-up (median of 23.5 months). Conclusions The upgrade rate at excision of IDP diagnosed at CNB with radiologic-pathologic concordance is 2.3%. Our findings suggest that observation is appropriate for patients with radiologic-pathologic concordant CNB yielding IDP, regardless of its size. PMID:27315013

  3. Breast intraductal papillomas without atypia in radiologic-pathologic concordant core-needle biopsies: Rate of upgrade to carcinoma at excision.

    PubMed

    Pareja, Fresia; Corben, Adriana D; Brennan, Sandra B; Murray, Melissa P; Bowser, Zenica L; Jakate, Kiran; Sebastiano, Christopher; Morrow, Monica; Morris, Elizabeth A; Brogi, Edi

    2016-09-15

    The surgical management of mammary intraductal papilloma without atypia (IDP) identified at core-needle biopsy (CNB) is controversial. This study assessed the rate of upgrade to carcinoma at surgical excision (EXC). This study identified women with a CNB diagnosis of intraductal papilloma without atypia or carcinoma at a cancer center between 2003 and 2013. Radiologic-pathologic concordance was assessed for all cases, and discordant cases were excluded. The radiologic and clinicopathologic features of patients with a CNB diagnosis of IDP were correlated with an upgrade to carcinoma at EXC. The study population consists of 189 women with 196 IDPs; 166 women (171 IDPs) underwent EXC. The upgrade rate was 2.3% (4 of 171). The upgraded lesions were 2 invasive lobular carcinomas and 2 cases of ductal carcinoma in situ (DCIS). One case of DCIS involved the residual IDP, whereas the other 3 carcinomas were ≥ 8 mm away. Twenty-four women (25 IDPs) did not undergo EXC and had stable imaging on follow-up (median, 23.5 months). The upgrade rate at EXC for IDPs diagnosed at CNB with radiologic-pathologic concordance was 2.3%. These findings suggest that observation is appropriate for patients with radiologic-pathologic concordant CNB yielding IDP, regardless of its size. Cancer 2016. © 2016 American Cancer Society. Cancer 2016;122:2819-2827. © 2016 American Cancer Society. © 2016 American Cancer Society.

  4. Radiology-Pathology Conference: Reviving the Art of Oral Case Presentation in Residency.

    PubMed

    Sotardi, Susan; Scheinfeld, Meir H; Burns, Judah; Koenigsberg, Mordecai; Mantilla, Jose G; Goldberg-Stein, Shlomit

    2017-06-01

    To improve resident oral case communication and preparatory skills by providing residents an opportunity to prepare for and conduct a new interdisciplinary Radiology-Pathology (Rad-Path) conference series. To assess whether conference goals were being achieved, we surveyed trainees and attendings in the radiology and pathology departments. Percentages were examined for each variable. Mann-Whitney U test for ordinal variable significance was applied to determine statistical significance between radiology trainee and attending survey responses. Most surveyed radiology trainees (57.1%) strongly agreed or agreed with: "I wish I felt more comfortable with oral presentations." Sixty-five percent of radiology attendings (34 of 52) either agreed or strongly agreed that the residents should be more comfortable with oral case presentations. Of resident Rad-Path conference presenters, 69% (9 of 13) either agreed or strongly agreed that the conference improved their confidence and/or ability to present case information orally. Of responders who attended at least one Rad-Path conference in person, 83% of residents (19/23) and 61% (17/28) of attendings agreed or strongly agreed that the conference improved their ability to formulate a differential diagnosis. Using the Mann-Whitney U test, no significant difference was found between radiology trainees and attendings' responses. Our Rad-Path correlation conference was specifically designed and structured to provide residents with focused experience in formal oral case preparation and presentation. We consider our conference a success, with 69% of resident presenters reporting that the Rad-Path conference improved their confidence and/or ability to present case information orally. Copyright © 2017 The Association of University Radiologists. Published by Elsevier Inc. All rights reserved.

  5. Radiology-pathology conference: cutaneous angiosarcoma of the leg.

    PubMed

    Linda, Dorota D; Harish, Srinivasan; Alowami, Salem; DeNardi, Franco; Deheshi, Benjamin M

    2013-01-01

    Cutaneous angiosarcoma is a rare aggressive vascular neoplasm with a poor prognosis, seen usually in the elderly population in a background of chronic lymphedema. We present a case of cutaneous angiosarcoma of the leg without any chronic lymphedema with clinicoradiological and histological correlation.

  6. [The clinical-radiologic-pathologic features of imported pulmonary histoplasmosis].

    PubMed

    Gong, Pihua; Cao, Zhaolong; Mu, Xinlin; Dong, Xiaosong; Wang, Keqiang; Feng, Rui'e; Sun, Kunkun; Wang, Hui; Gao, Zhancheng

    2015-01-01

    To describe the clinical features and treatment of imported pulmonary histoplasmosis and therefore to improve the recognition and differential diagnosis of this disease. The clinical data of 3 patients with imported pulmonary histoplasmosis in our hospital were collected and analyzed. Literatures published since 1989 were retrieved with 'pulmonary histoplasmosis' from PubMed, China National Knowledge Infrastructure (CNKI), Wanfang Data and VIP data, of which all the literatures about imported pulmonary histoplasmosis were reviewed. The clinical manifestations, diagnostic methods and treatment were summarized. All the 3 cases of imported pulmonary histoplasmosis were immunocompetent hosts, all were males, age were from 44-67 years, and had a history of exploring the cave or tunnel inhabited by bats in the epidemic areas. All of them developed influenza-like symptoms varying in severity after the onset of the disease. Pulmonary multiple nodules and mediastinal lymphadenopathy were found on chest images. One patient underwent percutaneous lung biopsy and the other two received video-assisted thoracoscopic lung biopsy. All the 3 patients showed consistent histopathological findings, such as granulomatous inflammation with necrosis. Pathogen culture with lung biopsy in the first case was identified as histoplasma. All the 3 cases were treated with itraconazole, and recovered with good prognosis. Thirteen literatures in English were obtained, which reported 60 cases with imported pulmonary histoplasmosis. Forty-two of them were males, 16 were females and 2 undefined. The range of their age was from 17-64 years. No imported pulmonary histoplasmosis was reported so far in Chinese literature. Common features of imported pulmonary histoplasmosis were consistent with our patients, including epidemiology, influenza-like symptoms and bilateral pulmonary nodules, recovery with or without antifungal therapy. The epidemiologic history, influenza-like symptoms and bilateral

  7. Genitourinary schistosomiasis: life cycle and radiologic-pathologic findings.

    PubMed

    Shebel, Haytham M; Elsayes, Khaled M; Abou El Atta, Heba M; Elguindy, Yehia M; El-Diasty, Tarek A

    2012-01-01

    Genitourinary schistosomiasis is produced by Schistosoma haematobium, a species of fluke that is endemic to Africa and the Middle East, and causes substantial morbidity and mortality in those regions. It also may be seen elsewhere, as a result of travel or immigration. S haematobium, one of the five fluke species that account for most human cases of schistosomiasis, is the only species that infects the genitourinary system, where it may lead to a wide spectrum of clinical symptoms and signs. In the early stages, it primarily involves the bladder and ureters; later, the kidneys and genital organs are involved. It rarely infects the colon or lungs. A definitive diagnosis of genitourinary schistosomiasis is based on findings of parasite ova at microscopic urinalysis. Clinical manifestations and radiologic imaging features also may be suggestive of the disease, even at an early stage: Hematuria, dysuria, and hemospermia, early clinical signs of an established S haematobium infection, appear within 3 months after infection. At imaging, fine ureteral calcifications that appear as a line or parallel lines on abdominopelvic radiographs and as a circular pattern on axial images from computed tomography (CT) are considered pathognomonic of early-stage schistosomiasis. Ureteritis, pyelitis, and cystitis cystica, conditions that are characterized by air bubble-like filling defects representing ova deposited in the ureter, kidney, and bladder, respectively, may be seen at intravenous urography, intravenous ureteropyelography, and CT urography. Coarse calcification, fibrosis, and strictures are signs of chronic or late-stage schistosomiasis. Such changes may be especially severe in the bladder, creating a predisposition to squamous cell carcinoma. Genital involvement, which occurs more often in men than in women, predominantly affects the prostate and seminal vesicles.

  8. Variable color Doppler sonographic appearances of retained products of conception: radiologic-pathologic correlation.

    PubMed

    Kamaya, Aya; Krishnarao, Priya M; Folkins, Ann K; Jeffrey, R Brooke; Desser, Terry S; Maturen, Katherine E

    2015-10-01

    Retained products of conception (RPOC) displays variable vascularity, ranging from avascular to markedly vascular on color Doppler sonography. We hypothesize that variability in sonographic vascularity may be due to histopathologic variation in the placental tissue. After institutional review board approval, sonographic images and pathologic specimens were retrospectively reviewed in 26 patients with pathologically proven RPOC. Ultrasound (US) images were scored 0-3 for the degree of vascularity by two radiologists blinded to the diagnosis. Corresponding pathologic specimens were evaluated for vascularization of chorionic villi, degree of inflammation, morphology of maternal arteries, chorionic villous preservation, and percentage of clot, membranes, chorionic villi, and decidua/myometrium. Statistical analysis, including multiple linear regression, was performed. RPOC with histologically avascular chorionic villi or those with markedly reduced vascularization had significantly lower US vascularity scores (p = 0.030) than those with chorionic villi showing normal or decreased vascularization. Sonographically avascular RPOC had a significantly lower percentage villi (p = 0.028) and higher percentage of decidua (p = 0.004) than specimens where US showed any Doppler vascularity. Histologic vascularity of villi (p = 0.049) and non-observation of maternal arteries (p = 0.001) were significant predictors of US vascularity scores in multivariate linear regression analysis, while inflammation of villi (p = 0.053) was a marginally significant predictor. Histologic vascularity of villi appears to contribute to the observed variation in sonographic vascularity. This finding may underlie known differences in clinical outcomes between sonographic vascularity groups.

  9. Postmortem computed tomography in victims of military air mishaps: radiological-pathological correlation of CT findings.

    PubMed

    Levy, Gad; Goldstein, Liav; Blachar, Arye; Apter, Sara; Barenboim, Erez; Bar-Dayan, Yaron; Shamis, Ari; Atar, Eli

    2007-10-01

    A thorough medical inquiry is included in every aviation mishap investigation. While the gold standard of this investigation is a forensic pathology examination, numerous reports stress the important role of computed tomography in the postmortem evaluation of trauma victims. To characterize the findings identified by postmortem CT and compare its performance to conventional autopsy in victims of military aviation mishaps, we analyzed seven postmortem CT examinations. Musculoskeletal injuries accounted for 57.8% of the traumatic findings identified by postmortem CT. The most frequent findings were fractures of the rib (47%), skull (9.6%) and facial bones (8.6%). Abnormally located air accounted for 24% of findings, for which CT was superior (3.5% detected by autopsy, 100% by postmortem CT, P < 0.001). The performance of autopsy in detecting injuries was superior (autopsy detected 85.8% of all injuries, postmortem CT detected 53.9%, P < 0.001), especially in the detection of superficial lesions (100% detected by autopsy, 10.5% by postmortem CT, P < 0.001) and solid organ injuries (100% by autopsy, 18.5% by postmortem CT, P < 0.001). Performance in the detection of musculoskeletal injuries was similar (91.3% for autopsy, 90.3% for postmortem CT, P = not significant). Postmortem CT and autopsy have distinct performance profiles, and although the first cannot replace the latter it is a useful complementary examination.

  10. Pulmonary hamartomas: CT pixel analysis for fat attenuation using radiologic-pathologic correlation.

    PubMed

    Gleeson, Tadhg; Thiessen, Rennae; Hannigan, Ailish; Murphy, Darra; English, John C; Mayo, John R

    2013-10-01

    To assess the accuracy of CT pixel analysis for fat attenuation in pulmonary hamartomas. Retrospective review identified 32 patients in three separate groups; pathologically proven hamartoma (n = 11), hamartoma diagnosed on imaging (n = 9) and a control group (n = 14) of pathology-proven non-hamartomatous smoothly marginated solitary pulmonary nodules. All lesions were assessed using: visual assessment for fat, pixel analysis of the inner 2/3rds and mean attenuation of the entire lesion, using an internal reference for fat. Fat percentages on CT and at histology were compared. Visual assessment for macroscopic fat was the most reliable method for diagnosing pulmonary hamartoma. Combining percentage of fat-attenuation pixels in the inner 2/3rds of the lesion improved specificity to 100%. Mean attenuation or pixel analysis in isolation were not helpful in lesional characterization. Combining percentage fat-attenuating pixels in the inner 2/3rds with visual assessment for macroscopic fat improves specificity for diagnosing pulmonary hamartomas. © 2013 The Royal Australian and New Zealand College of Radiologists.

  11. Spectrum of Extramammary Malignant Neoplasms in the Breast With Radiologic-Pathologic Correlation.

    PubMed

    Kalli, Sirishma; Lanfranchi, Michael; Alexander, Andrew; Makim, Shital; Freer, Phoebe E

    Although primary breast cancer is the most common malignancy identified by breast imaging, extramammary malignancies may also rarely be encountered. These uncommon lesions may reflect primary neoplasms of nonmammary origin as well as secondary metastatic lesions, and include lymphoma, melanoma, neuroendocrine tumors, gastrointestinal tract malignancies, and angiosarcoma among other entities. Malignant extramammary breast lesions may be encountered during routine mammographic screening, identified during the diagnostic evaluation of a palpable breast abnormality, or may be detected incidentally during imaging of other organs of interest. As such, the radiologist should have familiarity with the appearance of these lesions. This article focuses on a review of several of the most common extramammary metastases to the breast, as well as a few lesions that may develop as either primary or secondary lesions. Copyright © 2016 Elsevier Inc. All rights reserved.

  12. Tomosynthesis-detected Architectural Distortion: Management Algorithm with Radiologic-Pathologic Correlation.

    PubMed

    Durand, Melissa A; Wang, Steven; Hooley, Regina J; Raghu, Madhavi; Philpotts, Liane E

    2016-01-01

    As use of digital breast tomosynthesis becomes increasingly widespread, new management challenges are inevitable because tomosynthesis may reveal suspicious lesions not visible at conventional two-dimensional (2D) full-field digital mammography. Architectural distortion is a mammographic finding associated with a high positive predictive value for malignancy. It is detected more frequently at tomosynthesis than at 2D digital mammography and may even be occult at conventional 2D imaging. Few studies have focused on tomosynthesis-detected architectural distortions to date, and optimal management of these distortions has yet to be well defined. Since implementing tomosynthesis at our institution in 2011, we have learned some practical ways to assess architectural distortion. Because distortions may be subtle, tomosynthesis localization tools plus improved visualization of adjacent landmarks are crucial elements in guiding mammographic identification of elusive distortions. These same tools can guide more focused ultrasonography (US) of the breast, which facilitates detection and permits US-guided tissue sampling. Some distortions may be sonographically occult, in which case magnetic resonance imaging may be a reasonable option, both to increase diagnostic confidence and to provide a means for image-guided biopsy. As an alternative, tomosynthesis-guided biopsy, conventional stereotactic biopsy (when possible), or tomosynthesis-guided needle localization may be used to achieve tissue diagnosis. Practical uses for tomosynthesis in evaluation of architectural distortion are highlighted, potential complications are identified, and a working algorithm for management of tomosynthesis-detected architectural distortion is proposed.

  13. Spinal osteoblastic meningioma with hematopoiesis: radiologic-pathologic correlation and review of the literature.

    PubMed

    Cochran, Elizabeth J; Schlauderaff, Abraham; Rand, Scott D; Eckardt, Gerald W; Kurpad, Shekar

    2016-10-01

    Spinal meningiomas associated with bone formation and hematopoiesis are rare tumors with only 3 prior case reports in the literature. We describe a case report of a woman who presented with back pain and an isolated event of urinary incontinence. A calcified spinal canal mass at T8 was identified on computed tomographic and magnetic resonance imaging. A gross total resection of the tumor was performed and pathologic examination showed a meningioma, World Health Organization grade 1, containing bone and bone marrow elements. A review of previously reported cases and a discussion of possible mechanisms of bone and hematopoiesis development in meningioma are presented. Copyright © 2016 Elsevier Inc. All rights reserved.

  14. Ileostomy obstruction by ingested apricot stone with clinical-radiological-pathological correlation.

    PubMed

    George, A J; Fallaize, R C; Bennett, J; Shabbir, J

    2015-09-15

    Patients with stomas often present with bowel obstruction, often secondary to adhesions. This case describes the presentation, investigation and management of a 62-year-old woman with an end ileostomy, who presented to hospital with acute abdominal pain and subacute bowel obstruction. Further questioning revealed the recent ingestion of an apricot stone and this was identified by multimodality imaging as the cause of the luminal obstruction in the distal ileum, just proximal to the stoma. After a failed period of conservative management, examination under anaesthesia was performed and digital extraction attempted, but this was unsuccessful. Rather than surgical stoma revision, endoscopic removal was achieved. The patient improved and was discharged the following day. However, her small bowel obstruction relapsed within 48 h. She was readmitted and underwent stoma revision with no further problems.

  15. CT findings of thoracic manifestations of primary Sjögren syndrome: radiologic-pathologic correlation.

    PubMed

    Egashira, Ryoko; Kondo, Tetsuya; Hirai, Tetsuyoshi; Kamochi, Noriyuki; Yakushiji, Mai; Yamasaki, Fumio; Irie, Hiroyuki

    2013-01-01

    Primary Sjögren syndrome is an immune-mediated exocrinopathy characterized by lymphoplasmacytic infiltration of the salivary and lacrimal glands. Various systemic extraglandular disorders are associated with primary Sjögren syndrome, and the thorax is commonly affected. The pulmonary manifestations of primary Sjögren syndrome may be categorized as airway abnormalities, interstitial pneumonias, and lymphoproliferative disorders; in each category, bronchiectasis or centrilobular nodules, nonspecific interstitial pneumonia, and lymphoid interstitial pneumonia are common. These manifestations do not usually occur in isolation; they are concomitantly seen with other types of lesions. Mucosa-associated lymphoid tissue (MALT) lymphoma and amyloidosis are key components of lymphoproliferative disorders, and MALT lymphoma should always be considered because its morphologic characteristics are similar to those of benign lymphoproliferative disorders. Amyloidosis is rare but important because it carries a risk for underlying MALT lymphoma or plasmacytoma, and it may lead to hemoptysis during biopsy. In addition, thin-walled air cysts are characteristic of primary Sjögren syndrome, irrespective of the main pulmonary manifestations. Lymphadenopathy and multilocular thymic cysts may be seen in the mediastinum. During the follow-up period, there is a risk for acute exacerbation of interstitial pneumonia and development of malignant lymphoma. Often, primary Sjögren syndrome is subclinical, but there are various underlying risks. Thus, imaging findings are important. In addition to the various types of interstitial pneumonia and airway abnormalities, air cysts and mediastinal manifestations may help diagnose primary Sjögren syndrome. © RSNA, 2013.

  16. Soft-Tissue Sarcomas of the Abdomen and Pelvis: Radiologic-Pathologic Features, Part 1-Common Sarcomas: From the Radiologic Pathology Archives.

    PubMed

    Levy, Angela D; Manning, Maria A; Al-Refaie, Waddah B; Miettinen, Markku M

    2017-01-01

    Soft-tissue sarcomas are a diverse group of rare mesenchymal malignancies that can arise at any location in the body and affect all age groups. These sarcomas are most common in the extremities, trunk wall, retroperitoneum, and head and neck. In the adult population, soft-tissue sarcomas arising in the abdomen and pelvis are often large masses at the time of diagnosis because they are usually clinically silent or cause vague or mild symptoms until they invade or compress vital organs. In contrast, soft-tissue sarcomas arising from the abdominal wall come to clinical attention earlier in the course of disease because they cause a palpable mass, abdominal wall deformity, or pain that is more clinically apparent. The imaging features of abdominal and pelvic sarcomas and abdominal wall sarcomas can be nonspecific and overlap with more common pathologic conditions, making diagnosis difficult or, in some cases, delaying diagnosis. Liposarcoma (well-differentiated and dedifferentiated liposarcomas), leiomyosarcoma, and gastrointestinal stromal tumor (GIST) are the most common intra-abdominal primary sarcomas. Any soft-tissue sarcoma can arise in the abdominal wall. Knowledge of the classification and pathologic features of soft-tissue sarcomas, the anatomic locations where they occur, and their cross-sectional imaging features helps the radiologist establish the diagnosis or differential diagnosis so that patients with soft-tissue sarcomas can receive optimal treatment and management. In part 1 of this article, the most common soft-tissue sarcomas (liposarcoma, leiomyosarcoma, and GIST) are reviewed, with a discussion on anatomic locations, classification, clinical considerations, and differential diagnosis. Part 2 will focus on the remainder of the soft-tissue sarcomas occurring in the abdomen and pelvis.

  17. Multiphase computed tomography of malignant kidney tumors: radiologic-pathologic comparison.

    PubMed

    Zokalj, Ivan; Marotti, Miljenko; Saghir, Hussein; Gasparov, Slavko; Kolarić, Branko; Plesnar, Antonio

    2012-12-01

    The aim of this retrospective study was to evaluate diagnostic test parameters of multiphase spiral computed tomography (CT) of the kidneys in the assessment of malignant renal tumors. Fifty-one patient records were reviewed. The imaging protocol included unenhanced and postcontrast scans during arterial and nephrographic phase. CT findings were compared with pathology findings to assess the value of spiral CT (sensitivity, specificity, negative predictive value, positive predictive value and accuracy) in the detection and characterization of tumors, and in the evaluation of local extension of malignant renal tumors. Spiral CT had a 96.08% sensitivity and accuracy in the detection of tumors. Characterization of renal tumors with CT had a sensitivity of 94.12% and accuracy of 96.08%. In the detection of fibrous capsule penetration, CT reached a sensitivity of 91.97% and specificity of 51.28%. In the evaluation of canal system propagation, the sensitivity was 100% and specificity 90.70%. CT had a sensitivity of 75%, specificity of 95.75% and positive predictive value of 60% in the evaluation of regional lymph node involvement. In the detection of the main renal vein invasion, CT showed 60% sensitivity and 100% specificity. Spearman's rank correlation coefficient between the mean tumor size on CT images and renal specimen was 0.916. In conclusion, multiphase spiral CT has satisfactory diagnostic parameters in the detection, characterization and evaluation of local extension of renal tumors except for detection of the main renal vein invasion.

  18. Radiologic-Pathologic Discordance and Outcome After MRI-Guided Vacuum-Assisted Biopsy.

    PubMed

    Lewin, Alana A; Heller, Samantha L; Jaglan, Sonam; Elias, Kristin; Newburg, Adrienne; Melsaether, Amy; Moy, Linda

    2017-01-01

    The purpose of this study was to determine the rate, characteristics, and outcomes of discordant MRI-guided vacuum-assisted biopsy (VAB) in women with suspected breast cancer. This retrospective study reviewed 1314 MRI-guided VABs performed in 1211 women between 2007 and 2013 and yielded 25 discordant results in 24 women. MRI characteristics; BI-RADS assessments; whether the lesion was missed, partially sampled, or excised at biopsy; and biopsy and surgical pathology results were reviewed. Statistical analyses were performed using Fisher exact and Mann-Whitney U tests. Among 1314 lesions that underwent MRI-guided VAB, 25 results were discordant (1.9%; 95% CI, 1.2-2.8%), and nine lesions with discordant results (36.0%, 95% CI, 18.5-56.9%) were malignant at surgical excision (three invasive ductal carcinoma and six ductal carcinoma in situ). There was no significant association between malignancy and lesion type, size, enhancement pattern, BI-RADS assessment, or clinical indication. Forty-four percent (11/25) of discordant lesions were missed, 48.0% (12/25) were partially sampled, and 8.0% (2/25) appeared to have been excised. Of the nine malignant lesions, 44.4% (4/9) discordant malignant lesions were missed, 44.4% (4/9) were partially sampled, and 11.1% (1/9) appeared to have been excised. Lesion sizes and types were similar in the missed and partially excised groups. The potential for false-negative results at MRI-guided VAB underscores the importance of radiologic-histologic correlation and imaging review after biopsy. Rebiopsy or excision in discordant cases is therefore recommended.

  19. Ectopic Anterior Mediastinal Pathology in the Chest: Radiologic-pathologic Correlation of Unexpected Encounters with the “Terrible Ts”

    PubMed Central

    Rashidfarokhi, Mahsan; Gupta, Jessica; Leytin, Anatoly; Epelbaum, Oleg

    2016-01-01

    The complex embryology of the anterior mediastinum makes it home to an array of primary neoplasms tied to the presence of the thyroid and thymus glands in that compartment. While the occurrence of ectopic thyroid deposits in the extramediastinal thorax has not been convincingly established, the other three “Ts” of the classic “4T” mnemonic for the differential diagnosis of an anterior mediastinal mass have occurred in the lung parenchyma, pleural space, and endobronchially as primary tumors. Finding any of the three lesions – thymoma, teratoma, or B-cell lymphoma – in the chest outside the mediastinum is very unusual, but that possibility exists. Herein, we illustrate examples of this rare phenomenon. PMID:28123839

  20. Calcifying Epithelial Odontogenic Tumor of the Mandible (Pindborg Tumor) . RPC (Radiologic-Pathologic Correlation) from the AFIP

    DTIC Science & Technology

    radiolucent to chiefly radiopaque. The size of the slowly-growing lesion corresponds to its duration. The differential diagnosis should include adenoameloblastoma, odontoma , ossifying fibroma, and osteomyelitis.

  1. MR appearance of clear cell sarcoma of tendons and aponeuroses (malignant melanoma of soft parts): radiologic-pathologic correlation.

    PubMed

    Hourani, Mukbil; Khoury, Nabil; Mourany, Bassem; Shabb, Nina Salem

    2005-09-01

    Clear cell sarcoma of tendons and aponeuroses (CCSTA) is a rare aggressive soft tissue tumor that frequently produces melanin. Its MR findings are rarely described in the literature. We report the case of a previously healthy 54-year-old man with clear cell sarcoma of the thigh who presented with a large painless mass of 1 year's duration. MR imaging showed the tumor to be of high signal intensity on fast spin-echo and STIR images. Both fine needle aspiration and excisional biopsy showed abundant melanin pigments. Histologic diagnosis was compatible with CCSTA.

  2. Atypical MRI features in soft-tissue arteriovenous malformation: a novel imaging appearance with radiologic-pathologic correlation.

    PubMed

    Patel, Anand S; Schulman, Joshua M; Ruben, Beth S; Hoffman, William Y; Dowd, Christopher F; Frieden, Ilona J; Hess, Christopher P

    2015-09-01

    The absence of a discrete mass, surrounding signal abnormality and solid enhancement are imaging features that have traditionally been used to differentiate soft-tissue arteriovenous malformations from vascular tumors on MRI. We have observed that these findings are not uncommon in arteriovenous malformations, which may lead to misdiagnosis or inappropriate treatment. To estimate the frequency of atypical MRI features in soft-tissue arteriovenous malformations and assess their relationship to lesion size, location, tissue type involved and vascular architecture. Medical records, MRI and histopathology were reviewed in consecutive patients with soft-tissue arteriovenous malformations in a multidisciplinary vascular anomalies clinic. Arteriovenous malformations were divided into those with and without atypical MRI findings (perilesional T2 signal abnormality, enhancement and/or a soft-tissue mass). Lesion location, size, tissue involved and vascular architecture were also compared between groups. Tissue stains were reviewed in available biopsy or resection specimens to assess relationships between MRI findings and histopathology. Thirty patients with treatment-naïve arteriovenous malformations were included. Fifteen lesions demonstrated atypical MRI. There was no difference in age, gender, lesion size or involved body part between the groups. However, more than half of the atypical lesions demonstrated multicompartmental involvement, and tiny intralesional flow voids were more common in atypical arteriovenous malformations. Histopathology also differed in atypical cases, showing densely packed endothelial cells with connective tissue architectural distortion and edema. Arteriovenous malformations may exhibit features of a vascular tumor on MRI, particularly when multicompartmental and/or containing tiny internal vessels. These features are important to consider in suspected fast-flow vascular malformations and may have implications with respect to their treatment.

  3. Radiologic-Pathologic Analysis of Contrast-enhanced and Diffusion-weighted MR Imaging in Patients with HCC after TACE: Diagnostic Accuracy of 3D Quantitative Image Analysis

    PubMed Central

    Chapiro, Julius; Wood, Laura D.; Lin, MingDe; Duran, Rafael; Cornish, Toby; Lesage, David; Charu, Vivek; Schernthaner, Rüdiger; Wang, Zhijun; Tacher, Vania; Savic, Lynn Jeanette; Kamel, Ihab R.

    2014-01-01

    standard error [RSEresidual standard error] = 6.38 and 6.33 for quantitative EASLEuropean Association for the Study of the Liver and quantitative ADCapparent diffusion coefficient, respectively), when compared with non-3Dthree-dimensional techniques (RSEresidual standard error = 12.18 for visual assessment). Conclusion This radiologic-pathologic correlation study demonstrates the diagnostic accuracy of 3Dthree-dimensional quantitative MR imaging techniques in identifying pathologically measured tumor necrosis in HCChepatocellular carcinoma lesions treated with TACEtransarterial chemoembolization. © RSNA, 2014 Online supplemental material is available for this article. PMID:25028783

  4. [Correlation of chronic periodontal disease and cardiovascular disease].

    PubMed

    Grudyanov, A I; Tkacheva, O N; Avraamova, T V

    2017-01-01

    The aim of the study was to assess correlative risk of progression of inflammatory periodontal lesions, the development of a systemic inflammatory reaction and cardiovascular diseases. The study involved 89 patients with chronic periodontal disease (CPD) of varying degrees. High cardiovascular disease risk was revealed in 8.8% of patients with moderate and 13.3% of patients with severe periodontal disease. It is proved that an additional factor contributing to the pathogenic relationship between periodontal inflammatory changes and the development of cardiovascular disease is systemic inflammatory response with increased hrC-reactive protein >3.4 mg/l and interleukin-6 to11.0±3.4 mg/l. Changes of blood lipid spectrum with a reduction in apolipoprotein A1 were associated with progression and development of the CPD. Correlations of somatic and dental pathology requires dentists and cardiologists joint efforts to modify common risk factors.

  5. Radiologic-pathologic findings of primary osseous adamantinoma with unusual metastasis to the posterior cul-de-sac in pregnancy.

    PubMed

    Flug, Jonathan A; Scalcione, Luke R; Hakima, Laleh; Ganson, George; Mazzie, Joseph P; Katz, Douglas S; Brooks, Michael

    2011-01-01

    Adamantinoma is a rare primary bone malignancy with a predilection for the tibial cortex. Metastases have been reported to the long bones, lung, pleura and spine. We present a 26-year-old pregnant woman with metastatic disease to the posterior cul-de-sac, lungs, liver and retroperitoneum, which collectively have not been previously reported in a single patient to our knowledge.

  6. [Initial management of advanced ovarian cancer: What radiological, pathological and surgical information are important for optimal therapeutic strategy?].

    PubMed

    Heudel, Pierre-Etienne; Selle, Frédéric; Morice, Philippe; Rouzier, Roman; Taieb, Sophie; Devouassoux-Shisheboran, Mojgan; Genestie, Catherine; Balleyguier, Corinne; Ray-Coquard, Isabelle

    2015-09-01

    Because the majority of patients present advanced disease at diagnosis, the management of epithelial ovarian cancer needs specialist multidisciplinary teamwork. Expertise in surgery, chemotherapy, imaging and histopathology is essential to achieve optimum outcomes. Computed tomography scans are routinely used to determine the extent of disease and to aid in surgical planning. The histologic classification is crucial to plan the best therapeutic strategy and to define the prognosis of disease. Pathological prognostic factors, such as degree of differentiation, FIGO-stage, and histological type have to be described. This report is fundamental to assessing prognosis and selection of appropriate treatment strategy. An adequate staging procedure is an extensive staging by an experienced gynecological oncologist, exploring the entire upper abdomen, and the pelvic and para-aortic lymph node regions to define the Peritoneal Cancer Index (PCI). The final assessment is the completeness of cytoreduction (CC) score, which is an assessment of residual disease after a maximal surgical effort. Initial management of advanced ovarian cancer is best provided by a specialist multidisciplinary team, including a radiologist, a pathologist, a gynecologic oncologist and a medical oncologist. Copyright © 2015 Société Française du Cancer. Published by Elsevier Masson SAS. All rights reserved.

  7. Interstitial lung disease in children.

    PubMed

    Cazzato, Salvatore; di Palmo, Emanuela; Ragazzo, Vincenzo; Ghione, Silvia

    2013-10-01

    Children's interstitial lung disease (ILD) includes a wide range of rare respiratory disorders associated with high morbidity and mortality. Genetic factors, systemic disease processes, nonspecific inflammatory or fibrotic patterns of repair seen in a number of clinical settings are involved in the ILD pathogenesis. Specific disorders more prevalent in young children include diffuse developmental disorders, alveolar growth abnormalities, genetic surfactant disorders, pulmonary interstitial glycogenosis and neuroendocrine cell hyperplasia of infancy. It may be difficult to recognize these entities and this can lead to delayed treatment. The diagnostic approach is based on a combination of history/physical examinations, imaging studies, pulmonary function testing, genetic testing, bronchoalveolar lavage (BAL) and in most cases an open lung biopsy. Although some disease types overlap with those seen in adults, in this review emphasis is placed on entities unique to the pediatric population focusing on clinical characteristics, histologic definitions, radiologic-pathologic correlation and therapeutic strategies. © 2013.

  8. Cognitive Correlates of Metamemory in Alzheimer's Disease

    PubMed Central

    Shaked, Danielle; Farrell, Meagan; Huey, Edward; Metcalfe, Janet; Cines, Sarah; Karlawish, Jason; Sullo, Elisabeth; Cosentino, Stephanie

    2014-01-01

    Objective Metamemory, or knowledge of one's memory abilities, is often impaired in individuals with Alzheimer's disease (AD), although the basis of this metacognitive deficit has not been fully articulated. Behavioral and imaging studies have produced conflicting evidence regarding the extent to which specific cognitive domains (i.e., executive functioning (EF), memory) and brain regions contribute to memory awareness. The primary aim of this study was to disentangle the cognitive correlates of metamemory in AD by examining the relatedness of objective metamemory performance to cognitive tasks grouped by domain (EF or memory) as well as by preferential hemispheric reliance defined by task modality (verbal or nonverbal). Method 89 participants with mild AD recruited at Columbia University Medical Center and the University of Pennsylvania underwent objective metamemory and cognitive testing. Partial correlations were used to assess the relationship between metamemory and four cognitive variables, adjusted for recruitment site. Results The significant correlates of metamemory included nonverbal fluency (r = .27 p = .02) and nonverbal memory (r = .24, p = .04). Conclusions Our findings suggest that objectively measured metamemory in a large sample of individuals with mild AD is selectively related to a set of inter-domain nonverbal tasks. The association between metamemory and the nonverbal tasks may implicate a shared reliance on a right-sided cognitive network that spans frontal and temporal regions. PMID:24819066

  9. Correlation between osteoporosis and cardiovascular disease.

    PubMed

    Sprini, Delia; Rini, Giovam Battista; Di Stefano, Laura; Cianferotti, Luisella; Napoli, Nicola

    2014-05-01

    Several evidences have shown in the last years a possible correlation between cardiovascular diseases and osteoporosis. Patients affected with osteoporosis, for example, have a higher risk of cardiovascular diseases than subjects with normal bone mass. However, the heterogeneous approaches and the different populations that have been studied so far have limited the strength of the findings. Studies conducted in animal models show that vascular calcification is a very complex mechanism that involves similar pathways described in the normal bone calcification. Proteins like BMP, osteopontin, osteoprotegerin play an important role at the bone level but are also highly expressed in the calcified vascular tissue. In particular, it seems that the OPG protect from vascular calcification and elevated levels have been found in patients with CVD. Other factors like oxidative stress, inflammation, free radicals, lipids metabolism are involved in this complex scenario. It is not a case that medications used for treating osteoporosis also inhibit the atherosclerotic process, acting on blood pressure and ventricular hypertrophy. Given the limited amount of available data, further studies are needed to elucidate the underlying mechanisms between osteoporosis and cardiovascular disease which may be important in the future also for preventive and therapeutic approaches of both conditions.

  10. Percutaneous irreversible electroporation for breast tissue and breast cancer: safety, feasibility, skin effects and radiologic-pathologic correlation in an animal study.

    PubMed

    Li, Sheng; Chen, Fei; Shen, Lujun; Zeng, Qi; Wu, Peihong

    2016-08-05

    To study the safety, feasibility and skin effects of irreversible electroporation (IRE) for breast tissue and breast cancer in animal models. Eight pigs were used in this study. IRE was performed on the left breasts of the pigs with different skin-electrode distances, and the right breasts were used as controls. The electrodes were placed 1-8 mm away from the skin, with an electrode spacing of 1.5-2 cm. Imaging and pathological examinations were performed at specific time points for follow-up evaluation. Vital signs, skin damage, breast tissue changes and ablation efficacy were also closely observed. Eight rabbit models with or without VX2 breast tumor implantations were used to further assess the damage caused by and the repair of thin skin after IRE treatment for breast cancer. Contrast-enhanced ultrasound and elastosonography were used to investigate ablation efficacy and safety. During IRE, the color of the pig breast skin reversibly changed. When the skin-electrode distance was 3 mm, the breast skin clearly changed, becoming white in the center and purple in the surrounding region during IRE. One small purulent skin lesion was detected several days after IRE. When the skin-electrode distance was 5-8 mm, the breast skin became red during IRE. However, the skin architecture was normal when evaluated using gross pathology and hematoxylin-eosin staining. When the skin-electrode distance was 1 mm, skin atrophy and yellow glabrescence occurred in the rabbit breasts after IRE. When the skin-electrode distance was ≥5 mm, there was no skin damage in the rabbit model regardless of breast cancer implantation. After IRE, complete ablation of the targeted breast tissue or cancer was confirmed, and apoptosis was detected in the target tissue and outermost epidermal layer. In the ablated breasts of the surviving animals, complete mammary regeneration with normal skin and hair was observed. Furthermore, no massive fibrosis or mass formation were detected on ultrasound or through hematoxylin-eosin staining. After IRE, the skin architecture was well preserved when the skin-electrode distance was ≥5 mm. Moreover, breast regeneration occurred without mass formation or obvious fibrosis.

  11. Cystic lesions of the parotid gland: radiologic-pathologic correlation according to the latest World Health Organization 2017 Classification of Head and Neck Tumours.

    PubMed

    Takita, Hirotaka; Takeshita, Tohru; Shimono, Taro; Tanaka, Hiroko; Iguchi, Hiroyoshi; Hashimoto, Shigeo; Kuwae, Yuko; Ohsawa, Masahiko; Miki, Yukio

    2017-08-23

    The latest World Health Organization 2017 Classification of Head and Neck Tumours includes a new chapter on tumors and tumor-like lesions of the neck and lymph nodes. Tumor-like lesions include a variety of cystic lesions of the parotid gland. Cystic lesions of the parotid gland can be divided into three groups: non-neoplastic cysts, benign tumors with macrocystic change, and malignant tumors with macrocystic change. It is important to distinguish these lesions from one another because treatment and patient management differ among the three groups. The purpose of this review is to describe the magnetic resonance imaging and scintigraphy findings and the histopathologic characteristics of each parotid gland lesion based on the latest World Health Organization 2017 Classification of Head and Neck Tumours and to summarize the key points of differential diagnosis for cystic lesions of the parotid gland.

  12. Dermopathy of Graves' disease: Clinico-pathological correlation.

    PubMed

    Reddy, Sagili Vijaya Bhaskar; Gupta, Sushil Kumar; Jain, Manoj

    2012-05-01

    Dermopathy of Graves' disease is a classical, but uncommon extrathyroidal manifestation of Graves' disease. The images of a typical case of dermopathy of Graves' disease are presented along with clinico-pathological correlation.

  13. Neural correlates underlying micrographia in Parkinson's disease.

    PubMed

    Wu, Tao; Zhang, Jiarong; Hallett, Mark; Feng, Tao; Hou, Yanan; Chan, Piu

    2016-01-01

    Micrographia is a common symptom in Parkinson's disease, which manifests as either a consistent or progressive reduction in the size of handwriting or both. Neural correlates underlying micrographia remain unclear. We used functional magnetic resonance imaging to investigate micrographia-related neural activity and connectivity modulations. In addition, the effect of attention and dopaminergic administration on micrographia was examined. We found that consistent micrographia was associated with decreased activity and connectivity in the basal ganglia motor circuit; while progressive micrographia was related to the dysfunction of basal ganglia motor circuit together with disconnections between the rostral supplementary motor area, rostral cingulate motor area and cerebellum. Attention significantly improved both consistent and progressive micrographia, accompanied by recruitment of anterior putamen and dorsolateral prefrontal cortex. Levodopa improved consistent micrographia accompanied by increased activity and connectivity in the basal ganglia motor circuit, but had no effect on progressive micrographia. Our findings suggest that consistent micrographia is related to dysfunction of the basal ganglia motor circuit; while dysfunction of the basal ganglia motor circuit and disconnection between the rostral supplementary motor area, rostral cingulate motor area and cerebellum likely contributes to progressive micrographia. Attention improves both types of micrographia by recruiting additional brain networks. Levodopa improves consistent micrographia by restoring the function of the basal ganglia motor circuit, but does not improve progressive micrographia, probably because of failure to repair the disconnected networks.

  14. The landscape of genetic susceptibility correlations among diseases and traits.

    PubMed

    Ohn, Jung Hun

    2017-09-01

    The aim of the study was to comprehensively explore the genetic susceptibility correlations among diseases and traits from large-scale individual genotype data. Based on a knowledge base of genetic variants significantly (P < 5 × 10 -8 ) linked with human phenotypes, genetic risk scores (GRSs) of diseases or traits were calculated for 2504 individuals with whole-genome sequencing data from the 1000 Genomes Project. Associations between diseases/traits were statistically evaluated by pairwise correlation analysis of GRSs. Overlaps between the genetic susceptibility correlations and disease comorbidity associations from hospital claims data in more than 30 million patients in United States were assessed. Correlation analysis of GRSs revealed 823 significant correlations among 78 diseases and 89 traits (false discovery rate adjusted P -value or Q -value < 0.01). It is noticeable that GRSs were correlated in 464 associations (56.4%) even if they were combinations of distinct sets of risk variants without chromosomal linkage, suggesting the presence of genetic interactions beyond chromosome position. When 312 significant genetic susceptibility correlations between diseases were compared to nationwide disease comorbidity correlations obtained from data from 32 million Medicare claims in the United States, 108 overlaps (34.6%) were found that had both genetic susceptibility and epidemiologic comorbid correlations. The study suggests that common genetic background exists between diseases and traits with epidemiologic associations. The GRS correlation approach provides a rich source of candidate associations among diseases and traits from the genetic perspective, warranting further epidemiologic studies.

  15. Electroencephalographic correlate of juvenile Huntington's disease.

    PubMed

    Ullrich, Nicole J; Riviello, James J; Darras, Basil T; Donner, Elizabeth J

    2004-07-01

    The spectrum of clinical disease in juvenile Huntington's disease differs from that seen in adults. Younger patients often present with seizures, dystonia and rigidity. The mechanism and type of seizures, timing of onset and electrographic features have not been well characterized in either adults or children. We describe the electroencephalographic findings observed in a young child with Huntington's disease who presented with motor regression and seizures. Recordings demonstrated bilateral posterior quadrant epileptiform discharges and occipital intermittent rhythmic delta activity, generally considered a nonspecific abnormality. These findings have not been reported in adult or juvenile Huntington's disease. Its presence in proximity to bilateral posterior spikes suggests that occipital intermittent rhythmic delta activity is an epileptiform abnormality, on a continuum with the posterior spike-and-wave discharges. Intermittent rhythmic delta activity can occur secondary to either the subcortical gray-matter disease or the associated seizure disorder. Huntington's disease should be considered in the differential diagnosis of young children who present with seizures and developmental regression.

  16. [Correlation between Alzheimer disease and cataract].

    PubMed

    Liu, S S; Zhu, S Q

    2017-04-11

    Alzheimer disease (AD) is a progressive neurodegenerative disease and is a leading cause of dementia among elders. In the early phase of AD, even if neuropathological changes presented, but little to none clinical symptoms were found. Therefore, it is difficult to diagnose AD in the beginning of the disease. It is vital to find a noninvasive way for both diagnose and prognosis of AD. Studies have found that β-amyloid (Aβ) works as a connection between AD and cataract. This review will discuss AD and its associated markers which may be present in the lens and cataract related AD to provide more basis for early diagnosis of AD. (Chin J Ophthalmol, 2017, 53: 314-316).

  17. Data mining for correlations between diet and Crohn's disease activity.

    PubMed

    Cooper, Jason G; Purcell, Gretchen P

    2006-01-01

    Crohn's disease is a debilitating condition that affects the entire gastrointestinal tract and often requires aggressive and invasive therapies. Several studies have suggested dietary triggers for disease activity. We have created a web-based tool to allow participants to record both daily food intake and wellness (i.e., disease-specific quality of life). We seek to determine if measurable correlations exist between these events in patients with Crohn's disease. Advanced data mining techniques are employed to find such correlations and the efficacies of chosen techniques are assessed. We tested our web-based system in a pilot study involving 7 participants, and we found that traditional statistical techniques identified diet and disease activity correlations in short-term data sets.

  18. An Atlas of Genetic Correlations across Human Diseases and Traits

    PubMed Central

    Bulik-Sullivan, Brendan; Finucane, Hilary K; Anttila, Verneri; Gusev, Alexander; Day, Felix R.; Loh, Po-Ru; Duncan, Laramie; Perry, John R.B.; Patterson, Nick; Robinson, Elise B.; Daly, Mark J.; Price, Alkes L.; Neale, Benjamin M.

    2015-01-01

    Identifying genetic correlations between complex traits and diseases can provide useful etiological insights and help prioritize likely causal relationships. The major challenges preventing estimation of genetic correlation from genome-wide association study (GWAS) data with current methods are the lack of availability of individual genotype data and widespread sample overlap among meta-analyses. We circumvent these difficulties by introducing a technique – cross-trait LD Score regression – for estimating genetic correlation that requires only GWAS summary statistics and is not biased by sample overlap. We use this method to estimate 276 genetic correlations among 24 traits. The results include genetic correlations between anorexia nervosa and schizophrenia, anorexia and obesity and associations between educational attainment and several diseases. These results highlight the power of genome-wide analyses, since there currently are no significantly associated SNPs for anorexia nervosa and only three for educational attainment. PMID:26414676

  19. Radiologic-pathologic analysis of quantitative 3D tumour enhancement on contrast-enhanced MR imaging: a study of ROI placement

    PubMed Central

    Chockalingam, Arun; Duran, Rafael; Sohn, Jae Ho; Schernthaner, Rüdiger; Chapiro, Julius; Lee, Howard; Sahu, Sonia; Nguyen, Sonny; Lin, MingDe

    2015-01-01

    Objectives To investigate the influence of region-of-interest (ROI) placement on 3D tumour enhancement [Quantitative European Association for the Study of the Liver (qEASL)] in hepatocellular carcinoma (HCC) patients treated with transcatheter arterial chemoembolization (TACE). Methods Phase 1: 40 HCC patients had nine ROIs placed by one reader using systematic techniques (3 ipsilateral to the lesion, 3 contralateral to the lesion, and 3 dispersed throughout the liver) and qEASL variance was measured. Intra-class correlations were computed. Phase 2: 15 HCC patients with histosegmentation were selected. Six ROIs were systematically placed by AC (3 ROIs ipsilateral and 3 ROIs contralateral to the lesion). Three ROIs were placed by 2 radiologists. qEASL values were compared to histopathology by Pearson’s correlation, linear regression, and median difference. Results Phase 1: The dispersed method (abandoned in phase 2) had low consistency and high variance. Phase 2: qEASL correlated strongly with pathology in systematic methods [Pearson’s correlation coefficient=0.886 (ipsilateral) and 0.727 (contralateral)] and in clinical methods (0.625 and 0.879). However, ipsilateral placement matched best with pathology (median difference: 5.4 %; correlation: 0.89; regression CI: [0.904, 0.1409]). Conclusions qEASL is a robust method with comparable values among tested placements. Ipsilateral placement showed high consistency and better pathological correlation. PMID:25994198

  20. Prevalence and correlates of heart disease among adults in Singapore.

    PubMed

    Picco, Louisa; Subramaniam, Mythily; Abdin, Edimansyah; Vaingankar, Janhavi Ajit; Chong, Siow Ann

    2016-02-01

    Heart disease is one of the leading causes of morbidity and mortality worldwide and it has been well established that it is associated with both mental and physical conditions. This paper describes the prevalence of heart disease with mental disorders and other chronic physical conditions among the Singapore resident population. Data were from the Singapore Mental Health Study which was a representative, cross-sectional epidemiological survey undertaken with 6616 Singapore residents, between December 2009 and December 2010. The Composite International Diagnostic Interview Version 3.0 was used to establish the diagnosis of mental disorders, while a chronic medical conditions checklist was used to gather information on 15 physical conditions, including various forms of heart disease. Health-related quality of life was measured using the Euro-Quality of Life Scale (EQ-5D). The lifetime prevalence of heart disease was 2.8%. Socio-demographic correlates of heart disease included older age, Indian ethnicity, secondary education (vs. tertiary) and being economically inactive. After adjusting for socio-demographic variables and other comorbid physical and mental disorders, the prevalence of major depressive disorder and bipolar disorder were significantly higher among those with heart disease, as were diabetes, arthritis, kidney failure and lung disease. These findings highlight important associations between heart disease and various socio-demographic correlates, mental disorders and physical conditions. Given the high prevalence of mood disorders among heart disease patients, timely and appropriate screening and treatment of mental disorders among this group is essential.

  1. Genotype-Phenotype Correlations in Lesch-Nyhan Disease

    PubMed Central

    Fu, Rong; Jinnah, H. A.

    2012-01-01

    Lesch-Nyhan disease and its attenuated variants are caused by mutations in the HPRT1 gene, which encodes the purine recycling enzyme hypoxanthine-guanine phosphoribosyltransferase. The mutations are heterogeneous, with more than 400 different mutations already documented. Prior efforts to correlate variations in the clinical phenotype with different mutations have suggested that milder phenotypes typically are associated with mutants that permit some residual enzyme function, whereas the most severe phenotype is associated with null mutants. However, multiple exceptions to this concept have been reported. In the current studies 44 HPRT1 mutations associated with a wide spectrum of clinical phenotypes were reconstructed by site-directed mutagenesis, the mutant enzymes were expressed in vitro and purified, and their kinetic properties were examined toward their substrates hypoxanthine, guanine, and phosphoribosylpyrophosphate. The results provide strong evidence for a correlation between disease severity and residual catalytic activity of the enzyme (kcat) toward each of its substrates as well as several mechanisms that result in exceptions to this correlation. There was no correlation between disease severity and the affinity of the enzyme for its substrates (Km). These studies provide a valuable model for understanding general principles of genotype-phenotype correlations in human disease, as the mechanisms involved are applicable to many other disorders. PMID:22157001

  2. Chronic venous disease in Spain: doctor-patient correlation.

    PubMed

    Lozano Sánchez, F S; Carrasco Carrasco, E; Diaz Sánchez, S; González Porras, J R; Escudero Rodríguez, J R; Marinello Roura, J; Sánchez Nevarez, I

    2012-12-01

    The present study aimed to demonstrate how the quality of life (QoL) perceived by patients with chronic venous disease (CVD) is correlated with the severity of their disease objectively assessed by primary care physician. A total of 1560 patients with CVD were evaluated using four measurement instruments: CEAP clinical classification, Venous Clinical Severity Score (VCSS), SF-12 Health Survey and Chronic Lower Limb Venous Insufficiency Questionnaire (CIVIQ-20). Statistical correlations between these tools were analysed using Spearman's coefficient. Patients were distributed in C0, 58 (3.7%); C1, 243 (15.6%); C2, 328 (21.0%); C3, 357 (22.9%); C4, 368 (23.6%); C5, 136 (8.7%); and C6, 70 (4.5%). The VCSS score for the whole cohort was 0.89 ± 0.53. The correlation between CEAP and VCSS was moderately strong (r = 0.69). The overall QoL scores measured by SF and CIVIQ were 56.84 ± 19.63 and 65.11 ± 14.35, respectively. The correlation between the two QoL questionnaires was very strong (r = 0.81). The correlations of the SF and CIVIQ with the VCSS were moderately strong (r = -0.47 and -0.48). The correlations between QoL questionnaires and CEAP were moderate and lower than those with VSCC. While there is correlation between VCSS, CEAP, modified CIVIQ and venous ultrasound findings, subgroup analysis indicates that this correlation is driven by different components of VCSS compared with the other venous assessment tools. Patients' opinions about their disease are correlated with those assessed by primary care physicians. Copyright © 2012 European Society for Vascular Surgery. Published by Elsevier Ltd. All rights reserved.

  3. Disease Severity Correlates with Thrombotic Capacity in Experimental Nephrotic Syndrome

    PubMed Central

    Waller, Amanda P.; Sharma, Ruchika; Chanley, Melinda A.; Nieman, Marvin T.; Smoyer, William E.

    2015-01-01

    Thrombotic disease, a major life–threatening complication of nephrotic syndrome, has been associated with proteinuria and hypoalbuminemia severity. However, it is not fully understood how disease severity correlates with severity of the acquired hypercoagulopathy of nephrotic syndrome. Without this knowledge, the utility of proteinuria and/or hypoalbuminemia as biomarkers of thrombotic risk remains limited. Here, we show that two well established ex vivo hypercoagulopathy assays, thrombin generation and rotational thromboelastometry, are highly correlated with proteinuria and hypoalbuminemia in the puromycin aminonucleoside and adriamycin rat models of nephrotic syndrome. Notably, in the puromycin aminonucleoside model, hyperfibrinogenemia and antithrombin deficiency were also correlated with proteinuria severity, consistent with reports in human nephrotic syndrome. Importantly, although coagulation was not spontaneously activated in vivo with increasing proteinuria, vascular injury induced a more robust thrombotic response in nephrotic animals. In conclusion, hypercoagulopathy is highly correlated with nephrotic disease severity, but overt thrombosis may require an initiating insult, such as vascular injury. Our results suggest that proteinuria and/or hypoalbuminemia could be developed as clinically meaningful surrogate biomarkers of hypercoagulopathy to identify patients with nephrotic syndrome at highest risk for thrombotic disease and potentially target them for anticoagulant pharmacoprophylaxis. PMID:25855774

  4. [The research progress of metals correlated to Alzheimer's disease].

    PubMed

    Geng, Gelite; Luo, Huan-Min

    2014-10-01

    Alzheimer's disease (AD) is a kind of neurodegenerative diseases, the most common cause of dementia. Although AD has been studied more than, 100 years and the Aβ and tau theory are most widely accepted among the theories achieved, yet it is not really clear what the mechanism related to AD works up to now. However, it is certain that AD is a kind of diseases resulting from multi-causes. Except for causes correlated with heredity, aging and life habits, environmental role is worth taking into consideration as well. Some metals, such as copper, aluminum, zinc and iron et al, can also have close relationship with AD. Now, we make an overview on the correlative researches in the field.

  5. Neuropathologic correlates of trial-related instruments for Alzheimer's disease.

    PubMed

    Cummings, Jeffrey L; Ringman, John; Vinters, Harry V

    2014-01-01

    To advance disease-modifying therapies, it is critical to understand the relationship between the neuropathological changes of Alzheimer's Disease (AD) and the clinical measures used in therapeutic trials. We reviewed neuropathologically proven cases of AD from the National Alzheimer's Coordinating Center (NACC) and examined correlations between neuropathological changes and clinical-trial related instruments collected as part of the Uniform Dataset (UDS). We explored the relationships between neurofibrillary tangles, neuritic plaques, and total pathology burden with immediate and delayed recall, Clinical Dementia Rating-Sum of Boxes, Functional Activity Questionnaire, Neuropsychiatric Inventory Questionnaire, and Mini-Mental State Examination scores. 169 patients in NACC database had appropriate neuropathological and clinical data. All instruments correlated highly with neuritic plaques, Braak staging, and total pathology. Correlation coefficients for the relationships were relatively modest, suggesting that the pathologic burden examined accounts for between 13 and 40% of the variance of each of the instruments assessed. We conclude that there is a strong correlation between clinical trial-related measures and neuropathology identified at autopsy in AD. The amount of variance explained by the pathology is limited and other factors, both disease- and measurement-related, contribute to the variability observed in clinical measurements.

  6. Personality in Parkinson's disease: Clinical, behavioural and cognitive correlates.

    PubMed

    Santangelo, Gabriella; Piscopo, Fausta; Barone, Paolo; Vitale, Carmine

    2017-03-15

    Affective disorders and personality changes have long been considered pre-motor aspects of Parkinson's disease (PD). Many authors have used the term "premorbid personality" to define distinctive features of PD patients' personality characterized by reduced exploration of new environmental stimuli or potential reward sources ("novelty seeking") and avoidance behaviour ("harm avoidance") present before motor features. The functional correlates underlying the personality changes described in PD, implicate dysfunction of meso-cortico-limbic and striatal circuits. As disease progresses, the imbalance of neurotransmitter systems secondary to degenerative processes, along with dopamine replacement therapy, can produce a reversal of behaviours and an increase in reward seeking, laying the foundations for the emergence of the impulse control disorders. Personality disorders can be interpreted, therefore, as the result of individual susceptibility arising from intrinsic degenerative processes and individual personality features, in combination with extrinsic factors such as lifestyle, PD motor dysfunction and drug treatment. For a better understanding of personality disorders observed in PD and their relationship with the prodromal stage of the disease, prospective clinical studies are needed that correlate different personality profiles with other disease progression markers. Here, we review previous studies investigating the clinical, cognitive and behavioural correlates of personality traits in PD patients. Copyright © 2017 Elsevier B.V. All rights reserved.

  7. Neuropathologic correlates of activities of daily living in Alzheimer disease.

    PubMed

    Marshall, Gad A; Fairbanks, Lynn A; Tekin, Sibel; Vinters, Harry V; Cummings, Jeffrey L

    2006-01-01

    Functional status, reflected by measures of activities of daily living (ADLs), deteriorates as Alzheimer disease (AD) progresses. Decline in activities of daily living may be mediated by executive and frontal lobe dysfunction. The objective of this study was to examine the relationship between activities of daily living and pathologic burden in Alzheimer disease. Twenty two subjects with definite Alzheimer disease were selected from the UCLA ADRC neuropathology database. A total activities of daily living score was derived from the Retrospective Collateral Dementia Interview-Revised (RCDI-R) questionnaire, which was administered to caregivers of autopsied subjects included in the study. Neuritic plaque (NP) and neurofibrillary tangle (NFT) counts were performed for 8 brain regions. There was a significant positive correlation between total activities of daily living score (higher scores indicate more disability) and mean neuritic plaques and neurofibrillary tangle counts (r = 0.671, P = 0.001, and r = 0.542, P = 0.009, resp), as well as CA1 and prosubiculum neuritic plaques and neurofibrillary tangle counts, right and left orbital frontal neuritic plaques counts, and occipital neuritic plaques count. Total activities of daily living score did not correlate with age at death, age at symptom onset, dementia duration, gender, or education. Deteriorating activities of daily living in Alzheimer Disease subjects correlate with greater overall pathologic burden and possibly selectively with involvement of the medial temporal, occipital, and orbital frontal regions.

  8. Paravertebral Well-Differentiated Liposarcoma with Low-Grade Osteosarcomatous Component: Case Report with 11-Year Follow-Up, Radiological, Pathological, and Genetic Data, and Literature Review

    PubMed Central

    Fuentes, Stéphane; Maues de Paula, André; Salas, Sébastien; Mattéi, Jean-Camille; Dupuis, Charlotte; Appay, Romain; Aurias, Alain; Dufour, Henry; Figarella-Branger, Dominique; Bouvier, Corinne

    2017-01-01

    Despite being one of the most frequent soft-tissue sarcomas, well-differentiated liposarcoma has never been reported near the spine. The authors present the case of a 67-year-old man with progressive history of back pain. Physical examination revealed a mass located within the right paravertebral muscles. MR and CT imaging showed a heavily ossified central mass surrounded by a peripheral fatty component. No connection with the underlying bone was detected on imagery and during surgery. After surgical resection, histopathological examination revealed a tumor harboring combined features of well-differentiated liposarcoma and low-grade osteosarcoma. Tumor cells displayed overexpression of MDM2, CDK4, and P16 by immunohistochemistry and CGH revealed amplification of 12q13-15 as the only genetic imbalance. MDM2 FISH analysis was performed but was inconclusive. The pathological, immunohistochemical, and genetic features, the differential diagnoses, and the therapeutic management of this unusual tumor are discussed. No complementary treatment was performed initially. Following first treatment, two recurrences occurred 6 and 9 years later, both displaying histological features similar to the first occurrence. Radiotherapy was started after the second recurrence. Follow-up shows no evidence of disease 11 years after initial diagnosis. This case was unusual due to the paravertebral location of the tumor and its divergent differentiation. PMID:28377828

  9. Endolymphatic sac tumor (aggressive papillary tumor of middle ear and temporal bone): sine qua non radiology-pathology and the University of Texas MD Anderson Cancer Center experience.

    PubMed

    Bell, Diana; Gidley, Paul; Levine, Nicholas; Fuller, Gregory N

    2011-04-01

    Endolymphatic sac tumor (ELST) is a rare lesion of the skull base for which the origin has recently been ascertained. The endolymphatic sac is derived from neuroectoderm and is located subjacent to the posteromedial surface of the temporal bone. Patients characteristically present with hearing loss, tinnitus, and vertigo; facial nerve paralysis occurs less commonly. An indolent clinical course and long-standing symptom history is typical. Endolymphatic sac tumors are known to occur more frequently in patients with von Hippel-Lindau disease, but this is not a prerequisite for diagnosis because sporadic occurrence is common. Morphologically, all of the ELSTs showed a papillary and glandular architecture. The papillary and glandular structures were lined by a single layer of flattened cuboidal-to-columnar cells that were variably ciliated. Surgery is the treatment of choice for small ELST. Remission may last for years, but local recurrence after surgery, likely secondary to incomplete resection, can occur. Radiotherapy has a 50% cure rate with large or residual tumors. Endolymphatic sac tumor is a rare tumor that can easily be confused with other papillary lesions on histopathologic grounds, with significant treatment implications. Precise preoperative anatomic localization and computed tomography and magnetic resonance imaging feature interpretation play a paramount role in achieving an accurate final diagnosis. Published by Elsevier Inc.

  10. Substantia nigra echogenicity correlated with clinical features of Parkinson's disease.

    PubMed

    Zhou, Hai-Yan; Sun, Qian; Tan, Yu-Yan; Hu, Yun-Yun; Zhan, Wei-Wei; Li, Dun-Hui; Wang, Ying; Xiao, Qin; Liu, Jun; Chen, Sheng-Di

    2016-03-01

    Transcranial sonography can display structural alterations in the substantia nigra (SN) of patients with Parkinson's disease (PD), and is considered to be a potential useful tool for the diagnosis of PD. The aim of this study was to assess the correlation between SN echogenicity and clinical features in Chinese patients with PD. A total of 420 subjects including 290 patients with PD and 130 controls were recruited from the neurological clinic or the community. Transcranial sonographic evaluations of the SN were performed in all subjects, and motor and non-motor symptoms were thoroughly assessed by a series of rating scales in PD patients. Two hundred and one patients were successfully assessed by transcranial sonography. SN hyperechogenicity was found to be associated with male sex (p = 0.004), higher scores on the Unified Parkinson's Disease Rating Scale (UPDRS) part II (p = 0.001) and autonomic symptoms scores (p = 0.003). Moreover, regression analysis revealed that UPDRS part II scores (odds ratio = 1.141, p < 0.001) and gender (odds ratio = 2.409, p = 0.007) could be the independent predictors for SN hyperechogenicity; in addition, among all items of UPDRS part II, speech, dressing, hygiene, and turning in bed and adjusting bed clothes significantly correlated with SN hyperechogenicity. This is the first report suggesting the correlation between SN echogenicity and UPDRS part II, and we conclude that increased SN echogenicity might reflect more severe disease disability or poorer medical response. Copyright © 2016 Elsevier Ltd. All rights reserved.

  11. Correlation between Rotator Cuff Tears and Systemic Atherosclerotic Disease

    PubMed Central

    Donovan, Andrea; Schweitzer, Mark; Bencardino, Jenny; Petchprapa, Catherine; Cohen, Jodi; Ciavarra, Gina

    2011-01-01

    The purpose of this study was to investigate the association of aortic arch calcification, a surrogate marker of atherosclerosis, with rotator cuff tendinosis and tears given the hypothesis that decreased tendon vascularity is a contributing factor in the etiology of tendon degeneration. A retrospective review was performed to identify patients ages 50 to 90 years who had a shoulder MRI and a chest radiograph performed within 6 months of each other. Chest radiographs and shoulder MRIs from 120 patients were reviewed by two sets of observers blinded to the others' conclusions. Rotator cuff disease was classified as tendinosis, partial thickness tear, and full thickness tear. The presence or absence of aortic arch calcification was graded and compared with the MRI appearance of the rotator cuff. The tendon tear grading was positively correlated with patient age. However, the tendon tear grading on MRI was not significantly correlated with the aorta calcification scores on chest radiographs. Furthermore, there was no significant correlation between aorta calcification severity and tendon tear grading. In conclusion, rotator cuff tears did not significantly correlate with aortic calcification severity. This suggests that tendon ischemia may not be associated with the degree of macrovascular disease. PMID:22091372

  12. Neuroanatomical correlates of cognitive functioning in prodromal Huntington disease

    PubMed Central

    Harrington, Deborah L; Liu, Dawei; Smith, Megan M; Mills, James A; Long, Jeffrey D; Aylward, Elizabeth H; Paulsen, Jane S

    2014-01-01

    Introduction The brain mechanisms of cognitive impairment in prodromal Huntington disease (prHD) are not well understood. Although striatal atrophy correlates with some cognitive abilities, few studies of prHD have investigated whether cortical gray matter morphometry correlates in a regionally specific manner with functioning in different cognitive domains. This knowledge would inform the selection of cognitive measures for clinical trials that would be most sensitive to the target of a treatment intervention. Method In this study, random forest analysis was used to identify neuroanatomical correlates of functioning in five cognitive domains including attention and information processing speed, working memory, verbal learning and memory, negative emotion recognition, and temporal processing. Participants included 325 prHD individuals with varying levels of disease progression and 119 gene-negative controls with a family history of HD. In intermediate analyses, we identified brain regions that showed significant differences between the prHD and the control groups in cortical thickness and striatal volume. Brain morphometry in these regions was then correlated with cognitive functioning in each of the domains in the prHD group using random forest methods. We hypothesized that different regional patterns of brain morphometry would be associated with performances in distinct cognitive domains. Results The results showed that performances in different cognitive domains that are vulnerable to decline in prHD were correlated with regionally specific patterns of cortical and striatal morphometry. Putamen and/or caudate volumes were top-ranked correlates of performance across all cognitive domains, as was cortical thickness in regions related to the processing demands of each domain. Conclusions The results underscore the importance of identifying structural magnetic resonance imaging (sMRI) markers of functioning in different cognitive domains, as their relative

  13. Neuroanatomical correlates of cognitive functioning in prodromal Huntington disease.

    PubMed

    Harrington, Deborah L; Liu, Dawei; Smith, Megan M; Mills, James A; Long, Jeffrey D; Aylward, Elizabeth H; Paulsen, Jane S

    2014-01-01

    The brain mechanisms of cognitive impairment in prodromal Huntington disease (prHD) are not well understood. Although striatal atrophy correlates with some cognitive abilities, few studies of prHD have investigated whether cortical gray matter morphometry correlates in a regionally specific manner with functioning in different cognitive domains. This knowledge would inform the selection of cognitive measures for clinical trials that would be most sensitive to the target of a treatment intervention. In this study, random forest analysis was used to identify neuroanatomical correlates of functioning in five cognitive domains including attention and information processing speed, working memory, verbal learning and memory, negative emotion recognition, and temporal processing. Participants included 325 prHD individuals with varying levels of disease progression and 119 gene-negative controls with a family history of HD. In intermediate analyses, we identified brain regions that showed significant differences between the prHD and the control groups in cortical thickness and striatal volume. Brain morphometry in these regions was then correlated with cognitive functioning in each of the domains in the prHD group using random forest methods. We hypothesized that different regional patterns of brain morphometry would be associated with performances in distinct cognitive domains. The results showed that performances in different cognitive domains that are vulnerable to decline in prHD were correlated with regionally specific patterns of cortical and striatal morphometry. Putamen and/or caudate volumes were top-ranked correlates of performance across all cognitive domains, as was cortical thickness in regions related to the processing demands of each domain. The results underscore the importance of identifying structural magnetic resonance imaging (sMRI) markers of functioning in different cognitive domains, as their relative sensitivity depends on the extent to which

  14. Questionnaire about psychology/disease correlation-I.

    PubMed

    Dragoş, D; Ojog, D G; Pănescu, O M; Rusu, E C; Tănăsescu, M D

    2011-01-01

    The existing personality inventories are exploring too general psychological features so that the possible psychology/disease associations might be leveled out. We attempt to build a tool to explore the possible correlation between certain psychological features and the most common internal disorders. We have used two questionnaires containing many pairs of synonymous items (necessary for assessing the consistency of the answers). The items are divided into four main domains: preoccupation for the basal conditions of existence (health/ disease/ death, fear, money, lodging); interaction with other people; action, will/ volition, self-assertion; and preoccupation with the exterior. In this first article we are presenting the correlations between items of the first domain, based on the answers from our first 3138 respondents. The concern about health is best reflected by general formulations. The desire for security is best expressed by items combining the worry about money and dwelling, and worst by items reflecting the eagerness to gain, keep or judiciously spend money. Among the various fears, those of future, darkness, and loneliness are better indicators of security concern. In assessing the anxiety about safety/ security, specific worries are more revelatory than the general ones. Precaution and inclination for order are the best indicators for the aspiration to stability. Poorer ones are the desire for cleanliness and the tendency to attachment. Health and security concerns seem to be consistently linked. The consistency evaluating system will be based upon pairs of synonymous items correlated with a10(-200) or less error probability.

  15. Neurocognitive Correlates of Apathy and Anxiety in Parkinson's Disease

    PubMed Central

    Bogdanova, Yelena; Cronin-Golomb, Alice

    2012-01-01

    Parkinson's disease (PD) is associated with various nonmotor symptoms including neuropsychiatric and cognitive dysfunction. We examined the relation between apathy, anxiety, side of onset of motor symptoms, and cognition in PD. We hypothesized that PD patients would show different neuropsychiatric and neurocognitive profiles depending on the side of onset. 22 nondemented PD patients (11 right-side onset (RPD) with predominant left-hemisphere pathology, and 11 LPD) and 22 matched healthy controls (NC) were administered rating scales assessing apathy and anxiety, and a series of neuropsychological tests. PD patients showed a higher anxiety level than NC. There was a significant association between apathy, anxiety, and disease duration. In LPD, apathy but not anxiety was associated with performance on nonverbally mediated executive function and visuospatial measures, whereas, in RPD, anxiety but not apathy correlated with performance on verbally mediated tasks. Our findings demonstrated a differential association of apathy and anxiety to cognition in PD. PMID:22203919

  16. Magnetic resonance imaging and histology correlation in Cushing's disease.

    PubMed

    Masopust, Václav; Netuka, David; Beneš, Vladimír; Májovský, Martin; Belšán, Tomáš; Bradáč, Ondřej; Hořínek, Daniel; Kosák, Mikuláš; Hána, Václav; Kršek, Michal

    We continuously look for new techniques to improve the radicality of resection and to eliminate the negative effects of surgery. One of the methods that has been implemented in the perioperative management of Cushing's disease was the combination of three magnetic resonance imaging (MRI) sequences: SE, SPGR and fSPGR. We enrolled 41 patients (11 males, 30 females) diagnosed with Cushing's disease. A 3D tumour model with a navigation console was developed using each SPGR, fSPGR and SE sequence. The largest model was then used. In all cases, a standard four-handed, bi-nostril endoscopic endonasal technique was used. Endocrinological follow-up evaluation using morning cortisol sampling was performed for 6-34 months in our study. In total, 36 patients (88%) were disease-free following surgery. Our results indicate we achieved 100% sensitivity of MR. Overall, the conformity of at least one donor site, as compared with the places designated on MR, was in 78% of patients. We searched the place of compliance in individual locations. There is a consensus in individual locations in 63 of the 123 cases (or 56%). The correlation gamma function at a 5% significance level was then 0.27. The combination of MR sequences (SE, SPGR, fSPGR), neuronavigation system and iMRI led to increased sensitivity of up to 100%. Specificity reached 56% in our study. We found a high success rate in surgical procedure in terms of the correlation between MR findings and histology, which leads to remission of Cushing's disease. Copyright © 2016. Published by Elsevier Urban & Partner Sp. z o.o.

  17. Diffusion abnormality maps in demyelinating disease: correlations with clinical scores.

    PubMed

    Onu, Mihaela; Roceanu, Adina; Sboto-Frankenstein, Uta; Bendic, Robert; Tarta, Eugen; Preoteasa, Florentin; Bajenaru, Ovidiu

    2012-03-01

    Magnetic resonance imaging (MRI) has been explored as a noninvasive tool to assess pathology in multiple sclerosis (MS) patients. However, the correlation between classical MRI measures and physical disability is modest in MS. The diffusion tensor imaging (DTI) MRI technique holds particular promise in this regard. The present study shows brain regions where FA and individual diffusivities abnormalities are present and check their correlations with physical disability clinical scores. Eight patients and 12 matched healthy controls were recruited. The Multiple Sclerosis Functional Composite was administered. For MR-DTI acquisitions, a Genesis Signa 1.5 T MR system, an EP/SE scanning sequence, 25 gradient directions were used. Tract Based Spatial Statistics (TBSS) group comparisons showed reduced FA and increased individual diffusivities in several brain regions in patients. Significant correlations were found between FA and: EDSS, 9-HPT(NON)DOM and 25 FW score; between λ2 and: P100 (r&l), 9-HPT(NON)DOM and 25 FW; between λ3 and: 9-HPT(NON)DOM and 25 FW score. Fractional anisotropy and individual radial diffusivities proved to be important markers of motor disabilities in MS patients when the disease duration mean and the disability scores values range are relatively high. Copyright © 2011 Elsevier Ireland Ltd. All rights reserved.

  18. Postural sensory correlates of freezing of gait in Parkinson's disease.

    PubMed

    Huh, Young Eun; Hwang, Seonhong; Kim, Keehoon; Chung, Won-Ho; Youn, Jinyoung; Cho, Jin Whan

    2016-04-01

    To elucidate the unique patterns of postural sensory deficits contributing to freezing of gait (FOG) in patients with Parkinson's disease (PD) and to identify postural sensory modalities that correlate with FOG severity. Twenty-five PD patients with FOG, 22 PD patients without FOG, and 26 age-matched controls were evaluated using a sensory organization test and clinical measures including the Unified Parkinson's Disease Rating Scale motor score, Montreal Cognitive Assessment, Frontal Assessment Battery, Activities-specific Balance Confidence, Beck Anxiety Inventory, Beck Depression Inventory, and Berg Balance Scale. Multivariable logistic regression analysis was performed for posturographic parameters and possible confounders to determine postural sensory contributors to FOG. We also correlated FOG severity, measured using a New Freezing of Gait Questionnaire, with posturographic parameters. PD patients with FOG showed worse postural sensory processing compared with those without FOG. In particular, the inability to use the vestibular information (odds ratio [OR] 1.447; 95% confidential interval [CI]: 1.120, 1.869) and poor control over the perturbed somatosensory inputs (OR 2.904; 95% CI: 1.028, 8.202) significantly contributed to FOG. Among PD patients with FOG, FOG severity was correlated with higher reliance on visual information (ρ = -0.432, p = 0.039). Postural sensory deficits involving specific sensory modalities are strongly associated with FOG. Quantitative measurement of postural sensory deficits in PD patients with FOG may provide a better understanding of pathomechanisms of FOG and increase the efficacy of sensory cueing strategies for alleviating FOG, by more accurately identifying suitable patients for rehabilitative therapies. Copyright © 2016 Elsevier Ltd. All rights reserved.

  19. Functional connectivity disruptions correlate with cognitive phenotypes in Parkinson's disease.

    PubMed

    Hassan, M; Chaton, L; Benquet, P; Delval, A; Leroy, C; Plomhause, L; Moonen, A J H; Duits, A A; Leentjens, A F G; van Kranen-Mastenbroek, V; Defebvre, L; Derambure, P; Wendling, F; Dujardin, K

    2017-01-01

    Cognitive deficits in Parkinson's disease are thought to be related to altered functional brain connectivity. To date, cognitive-related changes in Parkinson's disease have never been explored with dense-EEG with the aim of establishing a relationship between the degree of cognitive impairment, on the one hand, and alterations in the functional connectivity of brain networks, on the other hand. This study was aimed at identifying altered brain networks associated with cognitive phenotypes in Parkinson's disease using dense-EEG data recorded during rest with eyes closed. Three groups of Parkinson's disease patients (N = 124) with different cognitive phenotypes coming from a data-driven cluster analysis, were studied: G1) cognitively intact patients (63), G2) patients with mild cognitive deficits (46) and G3) patients with severe cognitive deficits (15). Functional brain networks were identified using a dense-EEG source connectivity method. Pairwise functional connectivity was computed for 68 brain regions in different EEG frequency bands. Network statistics were assessed at both global (network topology) and local (inter-regional connections) level. Results revealed progressive disruptions in functional connectivity between the three patient groups, typically in the alpha band. Differences between G1 and G2 (p < 0.001, corrected using permutation test) were mainly frontotemporal alterations. A statistically significant correlation (ρ = 0.49, p < 0.001) was also obtained between a proposed network-based index and the patients' cognitive score. Global properties of network topology in patients were relatively intact. These findings indicate that functional connectivity decreases with the worsening of cognitive performance and loss of frontotemporal connectivity may be a promising neuromarker of cognitive impairment in Parkinson's disease.

  20. Circulating ACE2 activity correlates with cardiovascular disease development.

    PubMed

    Úri, Katalin; Fagyas, Miklós; Kertész, Attila; Borbély, Attila; Jenei, Csaba; Bene, Orsolya; Csanádi, Zoltán; Paulus, Walter J; Édes, István; Papp, Zoltán; Tóth, Attila; Lizanecz, Erzsébet

    2016-10-01

    It was shown recently that angiotensin-converting enzyme activity is limited by endogenous inhibition in vivo, highlighting the importance of angiotensin II (ACE2) elimination. The potential contribution of the ACE2 to cardiovascular disease progression was addressed. Serum ACE2 activities were measured in different clinical states (healthy, n=45; hypertensive, n=239; heart failure (HF) with reduced ejection fraction (HFrEF) n=141 and HF with preserved ejection fraction (HFpEF) n=47). ACE2 activity was significantly higher in hypertensive patients (24.8±0.8 U/ml) than that in healthy volunteers (16.2±0.8 U/ml, p=0.01). ACE2 activity further increased in HFrEF patients (43.9±2.1 U/ml, p=0.001) but not in HFpEF patients (24.6±1.9 U/ml) when compared with hypertensive patients. Serum ACE2 activity negatively correlated with left ventricular systolic function in HFrEF, but not in hypertensive, HFpEF or healthy populations. Serum ACE2 activity had a fair diagnostic value to differentiate HFpEF from HFrEF patients in this study. Serum ACE2 activity correlates with cardiovascular disease development: it increases when hypertension develops and further increases when the cardiovascular disease further progresses to systolic dysfunction, suggesting that ACE2 metabolism plays a role in these processes. In contrast, serum ACE2 activity does not change when hypertension progresses to HFpEF, suggesting a different pathomechanism for HFpEF, and proposing a biomarker-based identification of these HF forms. © The Author(s) 2016.

  1. Clinical correlates of raphe serotonergic dysfunction in early Parkinson's disease.

    PubMed

    Qamhawi, Zahi; Towey, David; Shah, Bina; Pagano, Gennaro; Seibyl, John; Marek, Kenneth; Borghammer, Per; Brooks, David James; Pavese, Nicola

    2015-10-01

    Post-mortem and neuroimaging studies suggest that the serotonergic system, which originates from the brainstem raphe nuclei, is disrupted in Parkinson's disease. This could contribute to the occurrence of non-motor symptoms and tremor, which are only partially explained by dopamine loss. However, the level of involvement of the serotonergic raphe nuclei in early Parkinson's disease is still debated. (123)I-FP-CIT single photon emission computed tomography is a marker of dopamine and serotonin transporter availability. While (123)I-FP-CIT binds primarily to dopamine transporters in the striatum, its binding in the brainstem raphe nuclei reflects serotonin transporter availability. We interrogated baseline single photon emission computed tomography scans of subjects recruited by the Parkinson's Progression Markers Initiative to determine: (i) the integrity of the brainstem raphe nuclei in early Parkinson's disease; and (ii) whether raphe serotonin transporter levels correlate with severity of tremor and symptoms of fatigue, depression, and sleep disturbance. Three hundred and forty-five patients with early drug-naïve Parkinson's disease, 185 healthy controls, and 56 subjects with possible Parkinson's disease without evidence of dopaminergic deficit were included. In the Parkinson's disease cohort, 37 patients had a tremulous, 106 patients had a pure akinetic-rigid, and 202 had a mixed phenotype. Patients with Parkinson's disease had significantly lower serotonin transporter availability in the brainstem raphe nuclei compared to controls (P < 0.01) and subjects without evidence of dopaminergic deficit (P < 0.05). However, only 13% of patients with Parkinson's disease individually had reduced signals. Raphe serotonin transporter availability over the entire Parkinson's disease cohort were associated with rest tremor amplitude (β = -0.106, P < 0.05), rest tremor constancy (β = -0.109, P < 0.05), and index of rest tremor severity (β = -0.104, P < 0.05). The tremulous

  2. Pathological correlations between traumatic brain injury and chronic neurodegenerative diseases.

    PubMed

    Cruz-Haces, Marcela; Tang, Jonathan; Acosta, Glen; Fernandez, Joseph; Shi, Riyi

    2017-01-01

    Traumatic brain injury is among the most common causes of death and disability in youth and young adults. In addition to the acute risk of morbidity with moderate to severe injuries, traumatic brain injury is associated with a number of chronic neurological and neuropsychiatric sequelae including neurodegenerative diseases such as Alzheimer's disease and Parkinson's disease. However, despite the high incidence of traumatic brain injuries and the established clinical correlation with neurodegeneration, the causative factors linking these processes have not yet been fully elucidated. Apart from removal from activity, few, if any prophylactic treatments against post-traumatic brain injury neurodegeneration exist. Therefore, it is imperative to understand the pathophysiological mechanisms of traumatic brain injury and neurodegeneration in order to identify potential factors that initiate neurodegenerative processes. Oxidative stress, neuroinflammation, and glutamatergic excitotoxicity have previously been implicated in both secondary brain injury and neurodegeneration. In particular, reactive oxygen species appear to be key in mediating molecular insult in neuroinflammation and excitotoxicity. As such, it is likely that post injury oxidative stress is a key mechanism which links traumatic brain injury to increased risk of neurodegeneration. Consequently, reactive oxygen species and their subsequent byproducts may serve as novel fluid markers for identification and monitoring of cellular damage. Furthermore, these reactive species may further serve as a suitable therapeutic target to reduce the risk of post-injury neurodegeneration and provide long term quality of life improvements for those suffering from traumatic brain injury.

  3. Correlations of clinical, neuroimaging, and electrophysiological features in Hirayama disease

    PubMed Central

    Liao, Ming-Feng; Chang, Hong-Shiu; Chang, Kuo-Hsuan; Ro, Long-Sun; Chu, Chun-Che; Kuo, Hung-Chou; Lyu, Rong-Kuo

    2016-01-01

    Abstract Hirayama disease (HD) is characterized by development of asymmetric forearm muscle atrophy during adolescence with or without focal cervical spinal cord atrophy. The purpose of this study is to assess the correlation of clinical symptoms, disease progression, and electrophysiological findings with cervical spine magnetic resonance imaging (MRI) findings. The medical records, cervical spine MRIs, and electrophysiological findings of 44 HD patients were retrospectively reviewed and analyzed. Denervation changes in any single C5 to C7 root-innervated muscle (deltoid, biceps, triceps, or extensor digitorum communis) occurred more frequently in the 25 patients with cord atrophy than the 19 patients without cord atrophy (88% vs 53%, P = 0.02). Onset age, duration of disease progression, neurological examinations, nerve conduction study, and electromyographic findings from individual muscles were similar between patient groups. Compared with HD patients without cord atrophy, HD patients with cord atrophy experience a more severe denervation change in C5 to C7 root-innervated muscles. PMID:27428223

  4. Impaired Pain Processing Correlates with Cognitive Impairment in Parkinson's Disease

    PubMed Central

    Okada, Akinori; Nakamura, Tomohiko; Suzuki, Junichiro; Suzuki, Masashi; Hirayama, Masaaki; Katsuno, Masahisa; Sobue, Gen

    2016-01-01

    Objective Pain and cognitive impairment are important clinical features in patients with Parkinson's disease (PD). Although pain processing is associated with the limbic system, which is also closely linked to the cognitive function, the association between pain and cognitive impairment in PD is still not well understood. The aim of the study was to investigate the association between pain processing and cognitive impairment in patients with PD. Methods Forty-three patients with PD and 22 healthy subjects were studied. Pain-related somatosensory evoked potentials (SEPs) were generated using a thin needle electrode to stimulate epidermal Aδ fibers. Cognitive impairment was evaluated using the Mini-Mental State Examination (MMSE), the Frontal Assessment Battery, and Japanese version of the Montreal Cognitive Assessment (MoCA-J), and their correlation with pain-related SEPs was investigated. Results The N1/P1 amplitude was significantly lower in PD patients than the controls. N1/P1 peak-to-peak amplitudes correlated with the MMSE (r=0.66, p<0.001) and MoCA-J scores (r=0.38, p<0.01) in patients with PD. These amplitudes also strongly correlated with the domains of attention and memory in the MMSE (attention, r=0.52, p<0.001; memory, r=0.40, p<0.01) and MoCA-J (attention, r=0.45, p<0.005; memory, r=0.48, p<0.001), but not in control subjects. Conclusion A good correlation was observed between the decreased amplitudes of pain-related SEPs and an impairment of attention and memory in patients with PD. Our results suggest that pathological abnormalities of the pain pathway are significantly linked to cognitive impairment in PD. PMID:27803403

  5. Imaging biomarker correlates with oxidative stress in Parkinson's disease.

    PubMed

    Naduthota, Rajini M; Bharath, Rose D; Jhunjhunwala, Ketan; Yadav, Ravi; Saini, Jitender; Christopher, Rita; Pal, Pramod Kumar

    2017-01-01

    While oxidative stress (OS) may be one of the crucial factors determining the initiation and progression of Parkinson's disease (PD), its correlation with gray matter (GM) atrophy is not known. To determine the GM volume (GMV) changes using voxel-based morphometry (VBM) and correlation with OS marker serum malondialdehyde (MDA) in PD. Seventy-two patients with PD were clinically evaluated and underwent magnetic resonance imaging (MRI) on a 3T MRI scanner using a 32-channel head coil. Lipid peroxidation product MDA levels were measured by spectrophotometry. MDA levels and regional GM differences using VBM were compared with 72 healthy controls. The mean age of the patients was 51.3 ± 10.6 years and that of controls was 50.8 ± 10.4 years. The mean age of onset of symptoms in PD was 45.2 ± 11.3 years. In PD, serum MDA level was significantly higher than that in controls (0.592 ± 0.89 μmol/l vs. 0.427 ± 0.055 μmol/l; P < 0.0001). Compared to controls, patients had greater regional GM atrophy in all the brain lobes (P < 0.001, uncorrected). A significant positive correlation was found between GMV and MDA in the caudate nucleus (CN) and posterior cingulate gyrus (PC) in the patient group (P < 0.001, uncorrected). We observed GM atrophy in all major brain lobes of patients when compared to controls. Only in the patient group, a significant positive correlation was observed in CN and PC with MDA. These findings suggest that, even though the whole brain is affected in PD, some of the non-substantia nigra regions of the brain, such as CN, may have some differential compensatory mechanism, which are preserved from oxidative damage.

  6. Cognitive impairment and magnetic resonance imaging correlations in Wilson's disease.

    PubMed

    Frota, N A F; Barbosa, E R; Porto, C S; Lucato, L T; Ono, C R; Buchpiguel, C A; Caramelli, P

    2013-06-01

    To evaluate the cognitive performance of a group of patients with Wilson's disease (WD) and to correlate the cognitive findings with changes in magnetic resonance imaging (MRI). All patients with WD consecutively attended in a Movement Disorders Clinic between September 2006 and October 2007 were invited to participate in the study, together with a group of matched healthy controls. Patients and controls were submitted to comprehensive neuropsychological assessment. MRI was performed in all patients, and abnormalities (high-intensity signal, low-intensity signal and atrophy) were semi-quantitatively rated. Performance of patients and controls in each cognitive test was compared, and correlations between cognitive scores and MRI changes were investigated within the patients' group. Twenty patients with WD (11 men) and 20 controls (nine men) were evaluated. Mean age in the WD and control groups was 30.05 ± 7.25 and 32.15 ± 5.37 years, respectively. Mean schooling years were 11.15 ± 3.73 among WD cases and 10.08 ± 2.62 among controls. Patients with WD performed significantly worse than controls in the Mini-Mental State Examination, Dementia Rating Scale, phonemic verbal fluency (FAS), verb generation, digit span forward, Stroop test, Frontal Assessment Battery and in the Brief Cognitive Screening Battery. A significant correlation emerged between global cognitive impairment and MRI scale (r = 0.535), being higher for high-intensity signal plus atrophy (r = 0.718). Patients with WD presented cognitive impairment, especially in executive functions, with good correlation between cognitive abnormalities and MRI changes. © 2012 John Wiley & Sons A/S.

  7. Peripheral vascular disease: correlation of MR imaging and angiography

    SciTech Connect

    Wesbey, G.E.; Higgins, C.B.; Amparo, E.G.; Hale, J.D.; Kaufman, L.; Pogany, A.C.

    1985-09-01

    The capability of magnetic resonance (MR) imaging for detecting aortic, iliac, and femoral stenoses and occlusions was evaluated. Multisection spin-echo studies at 0.35 tesla were obtained of the infrarenal aorta to the femoral bifurcation in 24 patients, all of whom had undergone intraarterial angiography within 14 days of imaging. Transaxial MR images were compared with the angiograms. Arterial stenoses and occlusions in these vessels detected by MR imaging correlated with angiographic findings in 91% of the instances. Due to the limited spatial resolution, MR images failed to demonstrate some femoral stenoses. MR imaging may be used for evaluation of aortoiliac vascular disease and for follow-up study after surgical revascularization. However, the limited spatial resolution, noncomposite display of the aortoiliofemoral circulation, and lack of evaluation of peripheral runoff provided by current MR imaging techniques militate against its replacing angiography prior to vascular intervention.

  8. Soil Correlates and Mortality from Giraffe Skin Disease in Tanzania.

    PubMed

    Bond, Monica L; Strauss, Megan K L; Lee, Derek E

    2016-10-01

    Giraffe skin disease (GSD) is a disorder of undetermined etiology that causes lesions on the forelimbs of Masai giraffe ( Giraffa camelopardalis tippelskirchi) in Tanzania, East Africa. We examined soil correlates of prevalence of GSD from 951 giraffe in 14 sites in Tanzania, and estimated mortality using 3 yr of longitudinal mark-recapture data from 382 giraffe with and without GSD lesions, in Tarangire National Park (TNP). Spatial variation in GSD prevalence was best explained by soil fertility, measured as cation exchange capacity. We found no mortality effect of GSD on adult giraffe in TNP. Based on our findings, GSD is unlikely to warrant immediate veterinary intervention, but continued monitoring is recommended to ensure early detection if GSD-afflicted animals begin to show signs of increased mortality or other adverse effects.

  9. Neurochemical correlates of caudate atrophy in Huntington disease

    PubMed Central

    Padowski, Jeannie M.; Weaver, Kurt E.; Richards, Todd L.; Laurino, Mercy Y.; Samii, Ali; Aylward, Elizabeth H.; Conley, Kevin E.

    2014-01-01

    BACKGROUND The precise pathogenic mechanisms of Huntington disease (HD) are unknown, but can be tested in vivo using proton magnetic resonance spectroscopy (1H MRS) to measure neurochemical changes. OBJECTIVE To evaluate neurochemical differences in HD gene mutation-carriers (HGMC) vs. controls, and to investigate relationships among function, brain structure and neurochemistry in HD. Since previous 1H MRS studies have yielded varied conclusions about HD neurochemical changes, an additional goal was to compare two 1H MRS data analysis approaches. METHODS HGMC with pre-manifest to early HD and controls underwent evaluation of motor function, MR imaging and localized 1H MRS in caudate and frontal lobe. Analytical approaches tested included absolute quantitation (unsuppressed water signal as an internal reference) and relative quantification (calculating ratios of all neurochemical signals within a voxel). RESULTS We identified a suite of neurochemicals reduced in concentration proportionally to loss of caudate volume in HGMC. Caudate concentrations of NAA, creatine, choline, and caudate and frontal concentrations of glutamate+glutamine and glutamate correlated with caudate volume in HGMC subjects. The relative, but not the absolute quantitation approach revealed disease-related differences; the Glx signal was decreased relative to other neurochemicals in caudate of HGMC subjects vs. controls. CONCLUSIONS This is the first study to demonstrate correlation among structure, function and chemical measures in HD brain. Additionally, we demonstrate that a relative quantitation approach may enable magnification of subtle differences between groups. Observation of decreased glutamate-glutamine signals suggests that glutamate signaling may be disrupted relatively early in HD, with important implications for therapeutic approaches. PMID:24442623

  10. Neurochemical correlates of caudate atrophy in Huntington's disease.

    PubMed

    Padowski, Jeannie M; Weaver, Kurt E; Richards, Todd L; Laurino, Mercy Y; Samii, Ali; Aylward, Elizabeth H; Conley, Kevin E

    2014-03-01

    The precise pathogenic mechanisms of Huntington's disease (HD) are unknown but can be tested in vivo using proton magnetic resonance spectroscopy ((1)H MRS) to measure neurochemical changes. The objective of this study was to evaluate neurochemical differences in HD gene mutation carriers (HGMCs) versus controls and to investigate relationships among function, brain structure, and neurochemistry in HD. Because previous (1)H MRS studies have yielded varied conclusions about HD neurochemical changes, an additional goal was to compare two (1)H MRS data analysis approaches. HGMCs with premanifest to early HD and controls underwent evaluation of motor function, magnetic resonance imaging, and localized (1)H MRS in the caudate and the frontal lobe. Analytical approaches that were tested included absolute quantitation (unsuppressed water signal as an internal reference) and relative quantification (calculating ratios of all neurochemical signals within a voxel). We identified a suite of neurochemicals that were reduced in concentration proportionally to loss of caudate volume in HGMCs. Caudate concentrations of N-acetylaspartate (NAA), creatine, choline, and caudate and frontal lobe concentrations of glutamate plus glutamine (Glx) and glutamate were correlated with caudate volume in HGMCs. The relative, but not the absolute, quantitation approach revealed disease-related differences; the Glx signal was decreased relative to other neurochemicals in the caudate of HGMCs versus controls. This is the first study to demonstrate a correlation among structure, function, and chemical measures in HD brain. Additionally, we demonstrate that a relative quantitation approach may enable the magnification of subtle differences between groups. Observation of decreased Glx suggests that glutamate signaling may be disrupted relatively early in HD, which has important implications for therapeutic approaches.

  11. Cortical Metabolic and Cognitive Correlates of Disorientation in Alzheimer's Disease.

    PubMed

    Weissberger, Gali H; Melrose, Rebecca J; Fanale, Candace M; Veliz, Joseph V; Sultzer, David L

    2017-01-01

    Orientation to time, date, and place is commonly utilized in clinical settings to aid in diagnosis, staging, and monitoring of Alzheimer's disease (AD). This study aimed to identify the cerebral metabolic correlates of orientation in patients with AD, and the degree to which regions associated with orientation overlap with memory-related structures. Eighty-five patients with a diagnosis of probable AD underwent fluorodeoxyglucose positron emission tomography (FDG-PET) and neuropsychological testing. Orientation items from the Dementia Rating Scale and recognition performance from the Consortium to Establish a Registry for AD (CERAD) Word List Learning test were correlated with cerebral glucose metabolism. Post-hoc analyses examined neuropsychological predictors of orientation. Better orientation performance related to greater cerebral metabolism in the bilateral middle-inferior temporal lobes, bilateral middle-posterior cingulate, left angular gyrus, and left middle occipital gyrus. In comparison, higher CERAD recognition discriminability score was associated with greater metabolic activity in left medial temporal lobe regions including the hippocampal and parahippocampal gyri, and the left fusiform gyrus. Post-hoc behavioral analyses revealed multiple cognitive functions to be related to orientation, including list learning, recognition memory, visuospatial functioning, attention, and language. Findings from the present study suggest that disorientation in AD results from dysfunction of a network of structures and cognitive abilities commonly found to be implicated in AD. The study supports the notion that memory is necessary but not sufficient for successful orientation.

  12. Biochemical correlates of neuropsychiatric illness in maple syrup urine disease

    PubMed Central

    Muelly, Emilie R.; Moore, Gregory J.; Bunce, Scott C.; Mack, Julie; Bigler, Don C.; Morton, D. Holmes; Strauss, Kevin A.

    2013-01-01

    Maple syrup urine disease (MSUD) is an inherited disorder of branched chain amino acid metabolism presenting with neonatal encephalopathy, episodic metabolic decompensation, and chronic amino acid imbalances. Dietary management enables survival and reduces risk of acute crises. Liver transplantation has emerged as an effective way to eliminate acute decompensation risk. Psychiatric illness is a reported MSUD complication, but has not been well characterized and remains poorly understood. We report the prevalence and characteristics of neuropsychiatric problems among 37 classical MSUD patients (ages 5–35 years, 26 on dietary therapy, 11 after liver transplantation) and explore their underlying mechanisms. Compared with 26 age-matched controls, MSUD patients were at higher risk for disorders of cognition, attention, and mood. Using quantitative proton magnetic resonance spectroscopy, we found lower brain glutamate, N-acetylaspartate (NAA), and creatine concentrations in MSUD patients, which correlated with specific neuropsychiatric outcomes. Asymptomatic neonatal course and stringent longitudinal biochemical control proved fundamental to optimizing long-term mental health. Neuropsychiatric morbidity and neurochemistry were similar among transplanted and nontransplanted MSUD patients. In conclusion, amino acid dysregulation results in aberrant neural networks with neurochemical deficiencies that persist after transplant and correlate with neuropsychiatric morbidities. These findings may provide insight into general mechanisms of psychiatric illness. PMID:23478409

  13. Gray Matter Changes in Demyelinating Disease: Correlations with Clinical Scores.

    PubMed

    Onu, Mihaela; Aroceanu, Adina; Ferastraoaru, Victor; Bajenaru, Ovidiu

    2015-09-01

    Recent MR studies have shown that, in multiple sclerosis, selective regional, but not global gray matter atrophy occurs in multiple sclerosis. Our aim was to identify specific areas of gray matter volume changes and explore the relationship between atrophy and clinical motor outcomes. Nine patients with relapsing remitting MS and 9 matched healthy controls were recruited. The Multiple Sclerosis Functional Composite was administered. For MR acquisitions, a GE- Genesis- Signa, 1.5T MR system, was used. A voxel-based morphometry (VBM), subcortical structures segmentation (FIRST) and volumetric (SIENAx) FSL tools were used in the study. Group comparison showed atrophy for several gray matter regions. The most important volume reductions were found for subcortical deep gray matter areas. Correlations with clinical scores were checked and specific gray matter areas showed significant volume reductions associated with motor scores (9-hole peg time and 25-feet walk time) and EDSS (Expanded Disability Status Scale). We performed a voxelwise analysis of gray matter changes in MS and found a more prominent atrophy for the subcortical structures than for cortical gray matter. Using an additional analysis (FIRST and SIENAx segmentation/volumetry) we were able to confirm the VBM results and to quantify the degree of atrophy in specific structures. Specific gray matter regions which volume reductions correlate with 25-feet walk, 9-hole peg times and EDSS suggest that 25-feet walk time is the best predictor of disease progression in terms of gray matter reduction.

  14. Questionnaire about psychology/disease correlation – II

    PubMed Central

    Dragoş, D; Ojog, DG; Tănăsescu, MD

    2011-01-01

    Objective. To further evaluate the adequacy of the items in our questionnaire aimed at unraveling the possible correlations between psychological features and internal disorders. This paper is dedicated to the items exploring the individual’s interaction with other people. Method. The items are divided into several subdomains. For each subdomain, we have calculated the correlations between the items of the respective subdomain (inner associations) and with the items in other subdomains (outer associations) by means of chi square test or Fisher exact test as dictated by statistical reasons. We examined the answers from our first 10192 respondents. Results and conclusions. Many inter-item correlations are the consequence of higher or lesser degrees of synonymy. Those within a given subdomain confirm the adequate allocation of items. Those bridging different subdomains may point either to incorrect assignments, or to semantic inclusion relations. Other results are not explicable by semantic similarity, and probably reveal psychological subtleties, such as: most individuals have a sense of undeservedness when badly treated by other people; those easily hurt by insults and humiliations have a propensity to timidity and/or emotivity; the subjects who shun conflicts are more prone to persistent thoughts, brooding people are more sensitive and more prone to conflicts, injustice-indignant people frequently get into conflict although they declare to be bothered by dissent etc. But at the heart of all the PFs in the Interaction-with-other-people domain there seems to be the sense of being undervalued, which should probably be the key issue to be addressed by any therapeutic interventions for diseases psychoemotionally determined by disturbed interpersonal relationships. Abbreviations: PF = psychological feature; Chisq = chi-square; OdRa = odds ratio; OdRaCL = odds ratio confidence limits; ErrProb = probability of error PMID:22514567

  15. Clinical correlates of depressive symptoms in familial Parkinson's disease.

    PubMed

    Pankratz, Nathan; Marder, Karen S; Halter, Cheryl A; Rudolph, Alice; Shults, Cliff W; Nichols, William C; Foroud, Tatiana

    2008-11-15

    Depression is one of the most common nonmotor complications of Parkinson's disease (PD) and has a major impact on quality of life. Although several clinical factors have been associated with depression in PD, the relationship between depression and stage of illness as well as between depression and degree of disability remains controversial. We have collected clinical data on 1,378 PD cases from 632 families, using the Unified Parkinson's Disease Rating Scale (UPDRS) Parts II (activities of daily living) & III (motor), the Mini-Mental State Exam, the Geriatric Depression Scale (GDS), and the Blessed Functional Activity Scale (Blessed). Analyses were performed using the 840 individuals with verified PD and without evidence of cognitive decline. Logistic regression was used to identify study variables that individually and collectively best predicted the presence of depressive symptoms (GDS >or= 10). After correcting for multiple tests, depressive symptoms were significantly associated with Hoehn and Yahr stage and other clinical measures but not with any genetic variant (parkin, LRRK2, APOE). The Blessed score, education, presence of a first degree relative with signs of depression, and UPDRS Part II were found to best predict depressive symptomatology (R(2) = 0.33; P = 4 x 10(-48)). Contrary to several reports, the results from this large study indicate that stage of illness, motor impairment, and functional disability are strongly correlated with depressive symptoms.

  16. Perianal Crohn's disease: predictive factors and genotype-phenotype correlations.

    PubMed

    Kanaan, Ziad; Ahmad, Surriya; Bilchuk, Natalia; Vahrenhold, Crystal; Pan, Jianmin; Galandiuk, Susan

    2012-01-01

    To investigate genotype-phenotype correlations in patients with perianal Crohn's disease (PCD) in order to determine which factors predispose to development of perianal disease in Crohn's patients. Seven-hundred and ninety-five Caucasian individuals (317 CD patients and 478 controls without inflammatory bowel disease, IBD) were prospectively enrolled into a clinical/genetic database. Demographic and clinical data, as well as peripheral blood leukocyte DNA were obtained from all patients. The following were evaluated: three NOD2/CARD15 polymorphisms: R702W, G908R, and 1007insC; five IL-23r risk alleles: rs1004819, rs10489629, rs2201841, rs11465804, and rs11209026; a well-characterized single-nucleotide polymorphism (SNP) on the IBD5 risk haplotype (OCTN1) and two peripheral tag SNPs (IGR2060 and IGR3096). PCD occurred in 147 (46%) of CD patients. There was no significant difference in the age at disease diagnosis between non-PCD and PCD patients (33 vs. 29 years, respectively). PCD patients were more likely to have disease located in the colon and ileocolic regions (79 PCD vs. 57% non-PCD; n = 116 vs. n = 96; p < 0.001), whereas patients with non-PCD were more likely to have Crohn's within the terminal ileum and upper gastrointestinal tract (43% non-PCD vs. 21% PCD; n = 73 vs. n = 31; p < 0.05). Thirty-four percent of patients with PCD required a permanent ileostomy (n = 50) compared to only 4% of non-PCD patients (n = 6; p < 0.05). Mutations in CARD15/NOD2 and IL-23r were risk factors for CD overall; however, in contrast to prior reports, in this patient population, OCTN1 and IGR variations within the IBD5 haplotype were not significant predictors of PCD. Colon/ileocolic CD location appears to be a significant predictor of perianal manifestations of CD. Patients with PCD are more likely to require permanent fecal diversion. We did not identify any genetic variations or combination of clinical findings and genetic variations within the CARD15/NOD2, IL-23r, and OCTN1

  17. Ocular signs correlate well with disease severity and genotype in Fabry disease.

    PubMed

    Pitz, Susanne; Kalkum, Gisela; Arash, Laila; Karabul, Nesrin; Sodi, Andrea; Larroque, Sylvain; Beck, Michael; Gal, Andreas

    2015-01-01

    Ocular signs in Fabry disease have generally been regarded to be primarily of diagnostic value. We explored whether ocular findings, alone or in particular in combination with the α-galactosidase A gene mutation, have predictive value for disease severity. Data from the Fabry Outcome Survey (FOS), a large, global database sponsored by Shire, were selected for adult patients who had undergone ophthalmological examination. Three ocular signs were assessed: cornea verticillata, tortuous conjunctival and/or retinal vessels, and cataract. Fabry disease severity was measured using FOS Mainz Severity Score Index and modifications thereof. Ophthalmological data were available for 1203 (699 female, 504 male) adult patients with eye findings characteristic of Fabry disease in 55.1%. Cornea verticillata had a similar distribution in women (51.1%) and men (50.8%), whereas tortuous vessels and Fabry cataract were somewhat more frequent in men than in women. Patients with cornea verticillata, selected as the principal ocular sign for this study, had more severe disease (median score, 20.0) versus those without ocular signs (11.0; P<0.001). This finding could be confirmed by applying age adjusted severity scores. Moreover, the prevalence of cornea verticillata was significantly higher in patients with null (male, 76.9%; female, 64.5%) and missense (male, 79.2%; female, 67.4%) mutations versus mild missense (male, 17.1%; female, 23.1%) and the p.N215S (male, 15.0%; female, 15.6%) mutations (P<0.01). Our analyses show a correlation between the prevalence of ocular changes in Fabry disease and disease severity. Consequently, information on ocular findings and α-galactosidase A gene mutation may help assess the risk for more severe Fabry disease. These observed findings are of notable clinical importance, as Fabry disease is characterized by high clinical course variability and only weak genotype-phenotype correlation at the individual patient level. Further confirmatory studies

  18. Angiogenic growth factors correlate with disease severity in young patients with autosomal dominant polycystic kidney disease

    PubMed Central

    Reed, Berenice; Masoumi, Amirali; Elhassan, Elwaleed; McFann, Kim; Cadnapaphornchai, Melissa; Maahs, David; Snell-Bergeon, Janet; Schrier, Robert W.

    2013-01-01

    Renal cysts, pain and hematuria are common presentations of autosomal dominant polycystic kidney disease (ADPKD) in children. Renal function, however, is typically preserved in these patients despite increased renal volume. Since angiogenesis has been implicated in promotion of renal cyst growth in ADPKD we measured the serum level of various angiogenic factors and early renal structural changes and cardiovascular parameters in 71 patients with ADPKD with a mean age of 16 years. Renal structure and left ventricular mass index were measured by magnetic resonance imaging or by echocardiogram. Renal function was assessed by creatinine clearance, and urinary protein excretion. Serum growth factor levels were measured by enzyme-linked immunosorbent assay. Because of skewed distributions, the various parameters are reported as log10. Serum Log10 vascular endothelial growth factor was positively correlated with renal and cardiac structure, but negatively correlated with creatinine clearance. Serum angiopoietin 1 levels significantly correlated with structural change in both the kidney and the heart and with urinary protein. Thus, the correlation between angiogenic growth factors with both renal and cardiac disease severity is compatible with a possible role for angiogenesis in the early progression of disease in ADPKD. PMID:20881939

  19. Decreased RECQL5 correlated with disease progression of osteosarcoma

    SciTech Connect

    Wu, Junlong; Zhi, Liqiang; Dai, Xin; Cai, Qingchun; Ma, Wei

    2015-11-27

    Human RecQ helicase family, consisting of RECQL, RECQL4, RECQL5, BLM and WRN, has critical roles in genetic stability and tumorigenesis. Although RECQL5 has been reported to correlate with the susceptibility to malignances including osteosarcoma, the specific effect on tumor genesis and progression is not yet clarified. Here we focused on the relationship between RECQL5 expression and osteosarcoma disease progression, and further investigated the function of RECQL5 on MG-63 cell proliferation and apoptosis. By immunohistochemical analysis, qRT-PCR and western blot, we found that RECQL5 expression was downregulated in osteosarcoma tissues and cells. Patients with advanced tumor stage and low grade expressed lower RECQL5. To construct a stable RECQL5 overexpression osteosarcoma cell line (MG-63-RECQL5), RECQL5 gene was inserted into the human AAVS1 safe harbor by CRISPR/Cas9 system. The overexpression of RECQL5 was verified by qRT-PCR and western blot. Cell proliferation, cell cycle and apoptosis assay revealed that RECQL5 overexpression inhibited proliferation, induced G1-phase arrest and promoted apoptosis in MG-63 cells. Collectively, our results suggested RECQL5 as a tumor suppressor in osteosarcoma and may be a potential therapeutic target for osteosarcoma treatment. - Highlights: • The expression of RECQL5 was downregulated in osteosarcoma tissues and cells. • Decreased RECQL5 correlated with osteosarcoma Enneking surgical classification. • We constructed a stable RECQL5 overexpression cell line by CRISPR/Cas9 system. • RECQL5 overexpression inhibited proliferation of MG-63 cells. • RECQL5 overexpression promoted apoptosis of MG-63 cells.

  20. Correlating Photoreceptor Mosaic Structure to Clinical Findings in Stargardt Disease

    PubMed Central

    Razeen, Moataz M.; Cooper, Robert F.; Langlo, Christopher S.; Goldberg, Mara R.; Wilk, Melissa A.; Han, Dennis P.; Connor, Thomas B.; Fishman, Gerald A.; Collison, Frederick T.; Sulai, Yusufu N.; Dubra, Alfredo; Carroll, Joseph; Stepien, Kimberly E.

    2016-01-01

    Purpose To demonstrate a method for correlating photoreceptor mosaic structure with optical coherence tomography (OCT) and microperimetry findings in patients with Stargardt disease. Methods A total of 14 patients with clinically diagnosed Stargardt disease were imaged using confocal and split-detection adaptive optics scanning light ophthalmoscopy. Cone photoreceptors were identified manually in a band along the temporal meridian. Resulting values were compared to a normative database (n = 9) to generate cone density deviation (CDD) maps. Manual measurement of outer nuclear layer plus Henle fiber layer (ONL+HFL) thickness was performed, in addition to determination of the presence of ellipsoid zone (EZ) and interdigitation zone (IZ) bands on OCT. These results, along with microperimetry data, were overlaid with the CDD maps. Results Wide variation in foveal structure and CDD maps was seen within this small group. Disruption of ONL+HFL and/or IZ band was seen in all patients, with EZ band preservation in regions with low cone density in 38% of locations analyzed. Normality of retinal lamellar structure on OCT corresponded with cone density and visual function at 50/78 locations analyzed. Outer retinal tubulations containing photoreceptor-like structures were observed in 3 patients. Conclusions The use of CDD color-coded maps enables direct comparison of cone mosaic local density with other measures of retinal structure and function. Larger normative datasets and improved tools for automation of image alignment are needed. Translational Relevance The approach described facilitates comparison of complex multimodal data sets from patients with inherited retinal degeneration, and can be expanded to incorporate other structural imaging or functional testing. PMID:26981328

  1. Neural correlates underlying micrographia in Parkinson’s disease

    PubMed Central

    Zhang, Jiarong; Hallett, Mark; Feng, Tao; Hou, Yanan; Chan, Piu

    2016-01-01

    Micrographia is a common symptom in Parkinson’s disease, which manifests as either a consistent or progressive reduction in the size of handwriting or both. Neural correlates underlying micrographia remain unclear. We used functional magnetic resonance imaging to investigate micrographia-related neural activity and connectivity modulations. In addition, the effect of attention and dopaminergic administration on micrographia was examined. We found that consistent micrographia was associated with decreased activity and connectivity in the basal ganglia motor circuit; while progressive micrographia was related to the dysfunction of basal ganglia motor circuit together with disconnections between the rostral supplementary motor area, rostral cingulate motor area and cerebellum. Attention significantly improved both consistent and progressive micrographia, accompanied by recruitment of anterior putamen and dorsolateral prefrontal cortex. Levodopa improved consistent micrographia accompanied by increased activity and connectivity in the basal ganglia motor circuit, but had no effect on progressive micrographia. Our findings suggest that consistent micrographia is related to dysfunction of the basal ganglia motor circuit; while dysfunction of the basal ganglia motor circuit and disconnection between the rostral supplementary motor area, rostral cingulate motor area and cerebellum likely contributes to progressive micrographia. Attention improves both types of micrographia by recruiting additional brain networks. Levodopa improves consistent micrographia by restoring the function of the basal ganglia motor circuit, but does not improve progressive micrographia, probably because of failure to repair the disconnected networks. PMID:26525918

  2. Correlation of Cough With Disease Activity and Treatment With Cyclophosphamide in Scleroderma Interstitial Lung Disease

    PubMed Central

    Tseng, Chi-Hong; Li, Ning; Elashoff, Robert M.; Tashkin, Donald P.

    2012-01-01

    Background: Cough is a significant symptom in patients with scleroderma interstitial lung disease (SSc-ILD), affecting 73% of the 158 patients enrolled in the Scleroderma Lung Study (SLS), a multicenter randomized trial of oral cyclophosphamide (CYC) vs placebo (PLA) in patients with active interstitial lung disease. Methods: We examined the correlation of cough frequency and severity and phlegm production at baseline in 156 SLS participants with other baseline variables representing SSc-ILD disease activity and the cough response to 1 year of treatment with CYC vs PLA. Results: Patients with cough at baseline had significantly lower diffusing capacity of the lung for carbon monoxide, dyspnea, the quality-of-life physical component summary, and the maximal fibrosis score on high-resolution CT imaging compared with those without cough at baseline. Cough severity and frequency correlated with FVC % predicted. After 12 months of treatment, cough frequency decreased in the CYC group compared with the PLA group and was significantly different from the PLA group at 18 months (6 months after discontinuation of CYC). However, the decreases in cough frequency did not correlate with the changes in FVC or diffusing capacity of the lung for carbon monoxide observed in the CYC group. Treatment-related improvements in cough frequency, as well as in FVC, were no longer apparent 12 months after discontinuation of CYC. Conclusions: Cough is a common symptom in SSc-ILD and correlates with the extent of fibrosis. Cough frequency decreases significantly in response to treatment with CYC but returns to baseline 1 year after withdrawal of treatment. Cough may be a symptom of ongoing fibrosis and an independent variable in assessing therapeutic response to CYC. Trial registry: ClinicalTrials.gov; No.: NCT000004563; URL: www.clinicaltrials.gov PMID:22156609

  3. Correlation transfer from basal ganglia to thalamus in Parkinson's disease

    PubMed Central

    Pamela, Reitsma; Brent, Doiron; Jonathan, Rubin

    2011-01-01

    Spike trains from neurons in the basal ganglia of parkinsonian primates show increased pairwise correlations, oscillatory activity, and burst rate compared to those from neurons recorded during normal brain activity. However, it is not known how these changes affect the behavior of downstream thalamic neurons. To understand how patterns of basal ganglia population activity may affect thalamic spike statistics, we study pairs of model thalamocortical (TC) relay neurons receiving correlated inhibitory input from the internal segment of the globus pallidus (GPi), a primary output nucleus of the basal ganglia. We observe that the strength of correlations of TC neuron spike trains increases with the GPi correlation level, and bursty firing patterns such as those seen in the parkinsonian GPi allow for stronger transfer of correlations than do firing patterns found under normal conditions. We also show that the T-current in the TC neurons does not significantly affect correlation transfer, despite its pronounced effects on spiking. Oscillatory firing patterns in GPi are shown to affect the timescale at which correlations are best transferred through the system. To explain this last result, we analytically compute the spike count correlation coefficient for oscillatory cases in a reduced point process model. Our analysis indicates that the dependence of the timescale of correlation transfer is robust to different levels of input spike and rate correlations and arises due to differences in instantaneous spike correlations, even when the long timescale rhythmic modulations of neurons are identical. Overall, these results show that parkinsonian firing patterns in GPi do affect the transfer of correlations to the thalamus. PMID:22355287

  4. Rainbow Trout (Oncorhynchus mykiss) resistance to columnaris disease is heritable and favorably correlated with bacterial cold water disease resistance

    USDA-ARS?s Scientific Manuscript database

    Columnaris disease (CD) is an emerging disease affecting rainbow trout aquaculture. Objectives were to estimate heritability of CD resistance in a line (ARS-Fp-R) selected 4 generations for improved bacterial cold water disease (BCWD) resistance; estimate genetic correlations among CD resistance, BC...

  5. [A possible correlation between periodontitis and ischaemic heart disease].

    PubMed

    Hansen, Gorm Mørk; Holmstrup, Palle; Tolker-Nielsen, Tim; Køllgaard, Tania; Nielsen, Claus Henrik; Givskov, Michael; Hansen, Peter Riis

    2014-04-28

    Periodontitis is a prevalent chronic inflammatory disease induced by bacterial biofilm in the dental pocket resulting in destruction of the periodontal tissues. Periodontitis is associated with ischaemic heart disease and we here provide a summary of the current evidence linking these two disorders.

  6. Ileal Crohn disease: mural microvascularity quantified with contrast-enhanced US correlates with disease activity.

    PubMed

    De Franco, Antonio; Di Veronica, Alessandra; Armuzzi, Alessandro; Roberto, Italia; Marzo, Manuela; De Pascalis, Barbara; De Vitis, Italo; Papa, Alfredo; Bock, Enrico; Danza, Francesco M; Bonomo, Lorenzo; Guidi, Luisa

    2012-02-01

    To quantitatively assess microvascular activation in the thickened ileal walls of patients with Crohn disease (CD) by using contrast-enhanced ultrasonography (US) and evaluate its correlation with widely used indexes of CD activity. This prospective study was approved by the ethics committee, and written informed consent was obtained from all patients. The authors examined 54 consecutively enrolled patients (mean age, 35.29 years; age range, 18-69 years; 39 men, 15 women) with endoscopically confirmed CD of the terminal ileum. Ileal wall segments thicker than 3 mm were examined with low-mechanical-index contrast-enhanced US and a second-generation US contrast agent. The authors analyzed software-plotted time-enhancement intensity curves to determine the maximum peak intensity (MPI) and wash-in slope coefficient (β) and evaluated their correlation with (a) the composite index of CD activity (CICDA), (b) the CD activity index (CDAI), and (c) the simplified endoscopic score for CD (SES-CD, evaluated in 37 patients) for the terminal ileum. Statistical analysis was performed with the Mann-Whitney test, Spearman rank test, and receiver operating characteristic (ROC) analysis. MPI and β coefficients were significantly increased in the 36 patients with a CICDA indicative of active disease (P<.0001 for both), the 33 patients with a CDAI of at least 150 (P<.032 and P<.0074, respectively), and the 26 patients with an SES-CD of at least 1 (P<.0001 and P<.002, respectively). ROC analysis revealed accurate identification (compared with CICDA) of active CD with an MPI threshold of 24 video intensity (VI) (sensitivity, 97%; specificity, 83%) and a β coefficient of 4.5 VI/sec (sensitivity, 86%; specificity, 83%). Contrast-enhanced US of the ileal wall is a promising method for objective, reproducible assessment of disease activity in patients with ileal CD. © RSNA, 2011

  7. Correlations between endoscopic and clinical disease activity indices in intestinal Behcet's disease

    PubMed Central

    Lee, Hyun Jung; Kim, Youn Nam; Jang, Hui Won; Jeon, Han Ho; Jung, Eun Suk; Park, Soo Jung; Hong, Sung Pil; Kim, Tae Il; Kim, Won Ho; Nam, Chung Mo; Cheon, Jae Hee

    2012-01-01

    AIM: To develop a novel endoscopic severity model of intestinal Behcet's disease (BD) and to evaluate its feasibility by comparing it with the actual disease activity index for intestinal Behcet's disease (DAIBD). METHODS: We reviewed the medical records of 167 intestinal BD patients between March 1986 and April 2011. We also investigated the endoscopic parameters including ulcer locations, distribution, number, depth, shape, size and margin to identify independent factors associated with DAIBD. An endoscopic severity model was developed using significant colonoscopic variables identified by multivariate regression analysis and its correlation with the DAIBD was evaluated. To determine factors related to the discrepancy between endoscopic severity and clinical activity, clinical characteristics and laboratory markers of the patients were analyzed. RESULTS: A multivariate regression analysis revealed that the number of intestinal ulcers (≥ 2, P = 0.031) and volcanoshaped ulcers (P = 0.001) were predictive factors for the DAIBD. An endoscopic severity model (Y) was developed based on selected endoscopic variables as follows: Y = 47.44 + 9.04 × non-Ileocecal area + 11.85 × ≥ 2 of intestinal ulcers + 5.03 × shallow ulcers + 12.76 × deep ulcers + 4.47 × geographic-shaped ulcers + 26.93 × volcano-shaped ulcers + 8.65 × ≥ 20 mm of intestinal ulcers. However, endoscopic parameters used in the multivariate analysis explained only 18.9% of the DAIBD variance. Patients with severe DAIBD scores but with moderately predicted disease activity by the endoscopic severity model had more symptoms of irritable bowel syndrome (21.4% vs 4.9%, P = 0.026) and a lower rate of corticosteroid use (50.0% vs 75.6%, P = 0.016) than those with severe DAIBD scores and accurately predicted disease by the model. CONCLUSION: Our study showed that the number of intestinal ulcers and volcano-shaped ulcers were predictive factors for severe DAIBD scores. However, the correlation between

  8. Molecular pathogenesis of Wilson and Menkes disease: correlation of mutations with molecular defects and disease phenotypes

    PubMed Central

    de Bie, P; Muller, P; Wijmenga, C; Klomp, L W J

    2007-01-01

    The trace metal copper is essential for a variety of biological processes, but extremely toxic when present in excessive amounts. Therefore, concentrations of this metal in the body are kept under tight control. Central regulators of cellular copper metabolism are the copper‐transporting P‐type ATPases ATP7A and ATP7B. Mutations in ATP7A or ATP7B disrupt the homeostatic copper balance, resulting in copper deficiency (Menkes disease) or copper overload (Wilson disease), respectively. ATP7A and ATP7B exert their functions in copper transport through a variety of interdependent mechanisms and regulatory events, including their catalytic ATPase activity, copper‐induced trafficking, post‐translational modifications and protein–protein interactions. This paper reviews the extensive efforts that have been undertaken over the past few years to dissect and characterise these mechanisms, and how these are affected in Menkes and Wilson disease. As both disorders are characterised by an extensive clinical heterogeneity, we will discus how the underlying genetic defects correlate with the molecular functions of ATP7A and ATP7B and with the clinical expression of these disorders. PMID:17717039

  9. Retinol Binding Protein 4 in children with Inflammatory Bowel Disease: a negative correlation with the disease activity.

    PubMed

    Roma, E; Krini, M; Hantzi, E; Sakka, S; Panayiotou, I; Margeli, A; Papassotiriou, I; Kanaka-Gantenbein, C

    2012-10-01

    Retinol Binding Protein-4 (RBP-4), the action of which was initially thought to be only the transport of vitamin A, is a major circulating adipocytokine involved in the inflammation. We evaluated the serum RBP-4 levels in children with inflammatory bowel disease (IBD) and correlated them with transthyretin (TTR), inflammation markers, disease activity, and body mass index (BMI). In 41 children of mean age 11.9 ± 3.6 years (range 5-17.7 y) with IBD (19 with Crohn's disease (CD) and 22 with Ulcerative colitis (UC) serum RBP-4, TTR, Amyloid A (SAA), C-Reactive Protein (CRP), Erythrocyte Sedimentation Rate (ESR), disease activity and BMI were prospectively determined and compared with those of 42 matched controls. No difference in the RBP-4 and TTR serum levels, between patients and controls as well as between active and remission state of the disease was noticed. A negative correlation of serum RBP-4 with the disease activity, SAA and ESR and a positive correlation with TTR was found, but no significant correlation with CRP or BMI was found. Inflammation markers were significantly increased in patients compared to controls and had a positive correlation with the disease activity. RBP-4 negatively correlated with disease activity of children with IBD probably indicating a protective anti-inflammatory mechanism of action in addition to transport of vitamin A.

  10. Dementia in Parkinson's disease: the problem of clinicopathological correlation.

    PubMed

    Sudarsky, L; Morris, J; Romero, J; Walshe, T M

    1989-01-01

    Four cases of Parkinson's disease with advanced dementia are described. Postmortem examination revealed cell loss in the substantia nigra, with Lewy bodies present, and loss of cells in the basal nucleus of Meynert. A few tangles were observed in the hippocampus, but no senile plaques or neurofibrillary tangles were found in the neocortex. The authors note that a dramatic dementia syndrome may occur with Parkinson's disease alone, without the associated cytoskeletal markers of Alzheimer's disease. Cases were characterized by disorientation, episodic confusion and hallucinations persisting off medication, disturbed behavior, and the absence of aphasia.

  11. MR Enterography of Inflammatory Bowel Disease with Endoscopic Correlation.

    PubMed

    Kaushal, Pankaj; Somwaru, Alexander S; Charabaty, Aline; Levy, Angela D

    2017-01-01

    Crohn disease (CD) and ulcerative colitis (UC) are the two main forms of idiopathic inflammatory bowel disease (IBD). CD is a transmural chronic inflammatory disorder that can affect any part of the gastrointestinal tract in a discontinuous distribution. UC is a mucosal and submucosal chronic inflammatory disease that typically originates in the rectum and may extend proximally in a continuous manner. In treating patients with CD and UC, clinicians rely heavily on accurate diagnoses and disease staging. Magnetic resonance (MR) enterography used in conjunction with endoscopy and histopathologic analysis can help accurately diagnose and manage disease in the majority of patients. Endoscopy is more sensitive for detection of the early-manifesting mucosal abnormalities seen with IBD and enables histopathologic sampling. MR enterography yields more insightful information about the pathologic changes seen deep to the mucosal layer of the gastrointestinal tract wall and to those portions of the small bowel that are not accessible endoscopically. CD can be classified into active inflammatory, fistulizing and perforating, fibrostenotic, and reparative and regenerative phases of disease. Although CD has a progressive course, there is no stepwise progression between these disease phases, and various phases may exist at the same time. The endoscopic and MR enterographic features of UC can be broadly divided into two categories: acute phase and subacute-chronic phase. Understanding the endoscopic features of IBD and the pathologic processes that cause the MR enterographic findings of IBD can help improve the accuracy of disease characterization and thus optimize the medication and surgical therapies for these patients. (©)RSNA, 2016.

  12. [Possible correlations of Berger's disease and Schonlein-Henoch purpura].

    PubMed

    Maffei, S; Stefanelli, M; Germini, G; Bragetti, P; Riommi, R; Cesarini, A R; Rufini, S; Castellucci, G

    1989-01-01

    A case of IgA nephropathy is described. The patient had only an attack of Henoch-Schonlein purpura without renal involvement when she was 7 years old. After 6 years of normal urinalysis she developed repeated bouts of gross hematuria and proteinuria. In renal biopsy typical features of Berger's disease were found. This particular case permits to debate whether the two diseases suffered by our patient were related or quite different.

  13. Cerebral correlates of psychotic syndromes in neurodegenerative diseases

    PubMed Central

    Jellinger, Kurt A

    2012-01-01

    Abstract Psychosis has been recognized as a common feature in neurodegenerative diseases and a core feature of dementia that worsens most clinical courses. It includes hallucinations, delusions including paranoia, aggressive behaviour, apathy and other psychotic phenomena that occur in a wide range of degenerative disorders including Alzheimer’s disease, synucleinopathies (Parkinson’s disease, dementia with Lewy bodies), Huntington’s disease, frontotemporal degenerations, motoneuron and prion diseases. Many of these psychiatric manifestations may be early expressions of cognitive impairment, but often there is a dissociation between psychotic/behavioural symptoms and the rather linear decline in cognitive function, suggesting independent pathophysiological mechanisms. Strictly neuropathological explanations are likely to be insufficient to explain them, and a large group of heterogeneous factors (environmental, neurochemical changes, genetic factors, etc.) may influence their pathogenesis. Clinico-pathological evaluation of behavioural and psychotic symptoms (PS) in the setting of neurodegenerative and dementing disorders presents a significant challenge for modern neurosciences. Recognition and understanding of these manifestations may lead to the development of more effective preventive and therapeutic options that can serve to delay long-term progression of these devastating disorders and improve the patients’ quality of life. A better understanding of the pathophysiology and distinctive pathological features underlying the development of PS in neurodegenerative diseases may provide important insights into psychotic processes in general. PMID:21418522

  14. Clinical and radiological correlations in patients with gestational trophoblastic disease*

    PubMed Central

    Lima, Lana de Lourdes Aguiar; Parente, Raphael Câmara Medeiros; Maestá, Izildinha; Amim Junior, Joffre; de Rezende Filho, Jorge Fonte; Montenegro, Carlos Antonio Barbosa; Braga, Antônio

    2016-01-01

    Gestational trophoblastic disease is an abnormality of pregnancy that encompasses a group of diseases that differ from each other in their propensity for regression, invasion, metastasis, and recurrence. In the past, it was common for patients with molar pregnancy to present with marked symptoms: copious bleeding; theca lutein cysts; uterus larger than appropriate for gestational age; early preeclampsia; hyperemesis gravidarum; and hyperthyroidism. Currently, with early diagnosis made by ultrasound, most patients are diagnosed while the disease is still in the asymptomatic phase. In cases of progression to trophoblastic neoplasia, staging-typically with Doppler flow studies of the pelvis and chest X-ray, although occasionally with computed tomography or magnetic resonance imaging-is critical to the choice of an appropriate antineoplastic therapy regimen. Because it is an unusual and serious disease that affects women of reproductive age, as well as because its appropriate treatment results in high cure rates, it is crucial that radiologists be familiar with gestational trophoblastic disease, in order to facilitate its early diagnosis and to ensure appropriate follow-up imaging. PMID:27777478

  15. Clinical and radiological correlations in patients with gestational trophoblastic disease.

    PubMed

    Lima, Lana de Lourdes Aguiar; Parente, Raphael Câmara Medeiros; Maestá, Izildinha; Amim Junior, Joffre; de Rezende Filho, Jorge Fonte; Montenegro, Carlos Antonio Barbosa; Braga, Antônio

    2016-01-01

    Gestational trophoblastic disease is an abnormality of pregnancy that encompasses a group of diseases that differ from each other in their propensity for regression, invasion, metastasis, and recurrence. In the past, it was common for patients with molar pregnancy to present with marked symptoms: copious bleeding; theca lutein cysts; uterus larger than appropriate for gestational age; early preeclampsia; hyperemesis gravidarum; and hyperthyroidism. Currently, with early diagnosis made by ultrasound, most patients are diagnosed while the disease is still in the asymptomatic phase. In cases of progression to trophoblastic neoplasia, staging-typically with Doppler flow studies of the pelvis and chest X-ray, although occasionally with computed tomography or magnetic resonance imaging-is critical to the choice of an appropriate antineoplastic therapy regimen. Because it is an unusual and serious disease that affects women of reproductive age, as well as because its appropriate treatment results in high cure rates, it is crucial that radiologists be familiar with gestational trophoblastic disease, in order to facilitate its early diagnosis and to ensure appropriate follow-up imaging.

  16. Patterns of Dupuytren disease in fingers: studying correlations with a multivariate ordinal logit model.

    PubMed

    Lanting, Rosanne; Nooraee, Nazanin; Werker, Paul M N; van den Heuvel, Edwin R

    2014-09-01

    Dupuytren disease affects fingers in a variable fashion. Knowledge about specific disease patterns (phenotype) based on location and severity of the disease is lacking. In this cross-sectional study, 344 primary affected hands with Dupuytren disease were physically examined. The Pearson correlation coefficient between the coexistence of Dupuytren disease in pairs of fingers was calculated, and agglomerative hierarchical clustering was applied to identify possible clusters of affected fingers. With a multivariate ordinal logit model, the authors studied the correlation on severity, taking into account age and sex, and tested hypotheses on independence between groups of fingers. The ring finger was most frequently affected by Dupuytren disease, and contractures were seen in 15.1 percent of affected rays. The severity of thumb and index finger, middle and ring fingers, and middle and little fingers was significantly correlated. Occurrences in pairs of fingers were highest in the middle and ring fingers and lowest in the thumb and index finger. Correlation between the ring and little fingers and a correlation between fingers from the ulnar and radial sides could not be demonstrated. Rays on the ulnar side of the hand are predominantly affected. The middle finger is substantially correlated with other fingers on the ulnar side, and the thumb and index finger are correlated; however, there was no evidence that the ulnar side and the radial side were correlated in any way, which suggests that occurrence on one side of the hand does not predict Dupuytren disease on the other side of the hand. Risk, III.

  17. Neuropsychological correlates of dominance, warmth, and extraversion in neurodegenerative disease.

    PubMed

    Sollberger, Marc; Stanley, Christine M; Ketelle, Robin; Beckman, Victoria; Growdon, Matthew; Jang, Jung; Neuhaus, John; Kramer, Joel H; Miller, Bruce L; Rankin, Katherine P

    2012-06-01

    Changes in personality differ qualitatively and quantitatively among patients with different neurodegenerative diseases, likely due to divergent patterns of regional neurodegeneration. Regional damage to circuits underlying various cognitive and emotional functions have been associated with interpersonal traits like dominance, extraversion, and warmth in patients with neurodegenerative diseases, suggesting that personality may in part be mediated by these more basic neuropsychological functions. In this study, we hypothesized that different combinations of cognitive, neuropsychiatric, and emotional measures would predict different interpersonal traits in patients with neurodegenerative diseases. A battery of cognitive, neuropsychiatric, and emotional measures was administered to 286 patients with various neurodegenerative diseases such as Alzheimer's disease, behavioral variant frontotemporal dementia, semantic dementia, and progressive supranuclear palsy, and informants described patients' dominance, extraversion, and warmth using the Interpersonal Adjective Scales (IAS) personality questionnaire. Regression modeling was performed to identify which neuropsychological factors uniquely predicted current personality, controlling for age, gender, and premorbid personality. Social dominance covaried with patients' capacity for cognitive control and verbal fluency. Conversely, warmth did not rely on these executive or verbal skills, but covaried primarily with patients' capacity for emotional responsiveness. Extraversion, representing a blend of dominance and warmth, demonstrated an intermediate degree of relationship to both executive/verbal and emotional functions. These findings suggest that different personality traits are partly subserved by specific cognitive and emotional functions in neurodegenerative disease patients. While this study was performed in the context of brain damage, the results raise the question of whether individual differences in these

  18. Neuropsychological correlates of dominance, warmth, and extraversion in neurodegenerative disease

    PubMed Central

    Sollberger, Marc; Stanley, Christine M.; Ketelle, Robin; Beckman, Victoria; Growdon, Matthew; Jang, Jung; Neuhaus, John; Kramer, Joel H.; Miller, Bruce L.; Rankin, Katherine P.

    2011-01-01

    Introduction Changes in personality differ qualitatively and quantitatively between patients with different neurodegenerative diseases, likely due to divergent patterns of regional neurodegeneration. Regional damage to circuits underlying various cognitive and emotional functions have been associated with interpersonal traits like dominance, extraversion, and warmth in patients with neurodegenerative diseases, suggesting that personality may in part be mediated by these more basic neuropsychological functions. In this study, we hypothesized that different combinations of cognitive, neuropsychiatric, and emotional measures would predict different interpersonal traits in patients with neurodegenerative diseases. Methods A battery of cognitive, neuropsychiatric, and emotional measures was administered to 286 patients with various neurodegenerative diseases such as Alzheimer’s disease, behavioral variant frontotemporal dementia, semantic dementia, and progressive supranuclear palsy, and informants described patients’ dominance, extraversion, and warmth using the Interpersonal Adjective Scales (IAS) personality questionnaire. Regression modeling was performed to identify which neuropsychological factors uniquely predicted current personality, controlling for age, gender, and premorbid personality. Results Social dominance covaried with patients’ capacity for cognitive control and verbal fluency. Conversely, warmth did not rely on these executive or verbal skills, but covaried primarily with patients’ capacity for emotional responsiveness. Extraversion, representing a blend of dominance and warmth, demonstrated an intermediate degree of relationship to both executive/verbal and emotional functions. Conclusions These findings suggest that different personality traits are partly subserved by specific cognitive and emotional functions in neurodegenerative disease patients. While this study was performed in the context of brain damage, the results raise the question

  19. Linguistic Correlates of Asymmetric Motor Symptom Severity in Parkinson's Disease

    ERIC Educational Resources Information Center

    Holtgraves, Thomas; McNamara, Patrick; Cappaert, Kevin; Durso, Raymond

    2010-01-01

    Asymmetric motor severity is common in Parkinson's Disease (PD) and provides a method for examining the neurobiologic mechanisms underlying cognitive and linguistic deficits associated with the disorder. In the present research, PD participants (N = 31) were assessed in terms of the asymmetry of their motor symptoms. Interviews with the…

  20. Linguistic Correlates of Asymmetric Motor Symptom Severity in Parkinson's Disease

    ERIC Educational Resources Information Center

    Holtgraves, Thomas; McNamara, Patrick; Cappaert, Kevin; Durso, Raymond

    2010-01-01

    Asymmetric motor severity is common in Parkinson's Disease (PD) and provides a method for examining the neurobiologic mechanisms underlying cognitive and linguistic deficits associated with the disorder. In the present research, PD participants (N = 31) were assessed in terms of the asymmetry of their motor symptoms. Interviews with the…

  1. CLINICAL CORRELATIONS AND SYSTEMIC STATUS IN PERIODONTAL DISEASE

    DTIC Science & Technology

    Generally speaking, the method is suitable only for the diagnosis of established diabetes mellitus and should not be used to study less marked alterations in carbohydrate metabolism. (Author)...Clinical and laboratory studies were carried out on 59 experimental and 64 control subjects. In the clinical evaluation, the periodontal score was...particularly since no steroid differences were found that could be correlated with the degree of periodontal breakdown. Results obtained in tests of oral

  2. Celiac Disease and Myointimal Proliferation: A Possible Correlation?

    PubMed Central

    Merra, Giuseppe; Lago, Antonio Dal; Roccarina, Davide; Gasbarrini, Giovanni; Gasbarrini, Antonio; Ghirlanda, Giovanni

    2008-01-01

    Celiac disease (CD) is an autoimmune disorder of the small bowel that occurs in genetically predisposed people of all ages, from middle infancy, and is caused by a reaction to gliadin, a gluten protein. Some patients are diagnosed with symptoms related to the decreased absorption of nutrients or with various symptoms which, although statistically linked, have no clear relationship with the malfunctioning bowel. Classic symptoms of CD include diarrhea, weight loss, and fatigue; bowel symptoms may be limited or even absent. In this article we describe the case of a young woman with CD who presents with myointimal proliferation. However multiple cases of vessel thrombosis have been reported in patients with CD. Despite the fact that no definitive relationship between these diseases could be explained, we think this association must be remembered especially in cases of young and tenuous women with these vascular abnormalities. PMID:21897789

  3. Cerebral correlates of psychotic symptoms in Alzheimer's disease

    PubMed Central

    Mega, M.; Lee, L.; Dinov, I.; Mishkin, F.; Toga, A.; Cummings, J.

    2000-01-01

    BACKGROUND—Psychotic symptoms are produced by distributed neuronal dysfunction. Abnormalities of reality testing and false inference implicate frontal lobe abnormalities.
OBJECTIVES—To identify the functional imaging profile of patients with Alzheimer's disease manifesting psychotic symptoms as measured by single photon emission computed tomography (SPECT).
METHODS—Twenty patients with Alzheimer's disease who had SPECT and clinical evaluations were divided into two equal groups with similar mini mental status examination (MMSE), age, sex, and the range of behaviours documented by the neuropsychiatric inventory (NPI), except delusions and hallucinations. SPECT studies, registered to a probabilistic anatomical atlas, were normalised across the combined group mean intensity level, and subjected to a voxel by voxel subtraction of the non-psychotic minus psychotic groups. Subvolume thresholding (SVT) corrected random lobar noise to produce a three dimensional functional significance map.
RESULTS—The significance map showed lower regional perfusion in the right and left dorsolateral frontal, left anterior cingulate, and left ventral striatal regions along with the left pulvinar and dorsolateral parietal cortex, in the psychotic versus non-psychotic group.
CONCLUSION—Patients with Alzheimer's disease who manifest psychosis may have disproportionate dysfunction of frontal lobes and related subcortical and parietal structures.

 PMID:10896687

  4. An Examination of the Demographic and Environmental Variables Correlated with Lyme Disease Emergence in Virginia.

    PubMed

    Seukep, Sara E; Kolivras, Korine N; Hong, Yili; Li, Jie; Prisley, Stephen P; Campbell, James B; Gaines, David N; Dymond, Randel L

    2015-12-01

    Lyme disease is the United States' most significant vector-borne illness. Virginia, on the southern edge of the disease's currently expanding range, has experienced an increase in Lyme disease both spatially and temporally, with steadily increasing rates over the past decade and disease spread from the northern to the southwestern part of the state. This study used a Geographic Information System and a spatial Poisson regression model to examine correlations between demographic and land cover variables, and human Lyme disease from 2006 to 2010 in Virginia. Analysis indicated that herbaceous land cover is positively correlated with Lyme disease incidence rates. Areas with greater interspersion between herbaceous and forested land were also positively correlated with incidence rates. In addition, income and age were positively correlated with incidence rates. Levels of development, interspersion of herbaceous and developed land, and population density were negatively correlated with incidence rates. Abundance of forest fragments less than 2 hectares in area was not significantly correlated. Our results support some findings of previous studies on ecological variables and Lyme disease in endemic areas, but other results have not been found in previous studies, highlighting the potential contribution of new variables as Lyme disease continues to emerge southward.

  5. Podoplanin Expression Correlates with Disease Progression in Mycosis Fungoides.

    PubMed

    Jankowska-Konsur, Alina; Kobierzycki, Christopher; Grzegrzółka, Jędrzej; Piotrowska, Aleksandra; Gomulkiewicz, Agnieszka; Glatzel-Plucinska, Natalia; Reich, Adam; Podhorska-Okołów, Marzenna; Dzięgiel, Piotr; Szepietowski, Jacek C

    2017-02-08

    The aim of this study was to investigate the role of lymphangiogenesis in the clinical progression and outcome of mycosis fungoides. Immunohistochemistry and Western blot techniques were used to assess the expression of podoplanin and vascular endothelial growth factor C in mycosis fungoides. Expression of vascular endothelial growth factor C measured by immunohistochemistry was significantly higher in mycosis fungoides samples in comparison with control cases (chronic benign dermatoses) (p = 0.0012). Increased expression of podoplanin was found in advanced vs. early mycosis fungoides (p < 0.0001), and was positively correlated with cutaneous and nodal involvement (p < 0.001, p < 0.0001; respectively). Higher podoplanin expression was also significantly associated with shorter survival (p < 0.001). Strong positive correlation was observed between expression of podoplanin analysed by immunohistochemistry and Western blot (r = 0.75, p < 0.0001). A similar association was shown regarding expression of vascular endothelial growth factor C (r = 0.68, p = 0.0007). In conclusion, these results suggest that increased expression of podoplanin is associated with poor clinical course, as well as shorter survival, of patients with mycosis fungoides.

  6. [Refsum's disease. Epidemiologic, clinical and biological correlation. 6 cases].

    PubMed

    Petit, H; Leys, D; Skjeldal, O H; Caron, J C; Lambert, P; Lehembre, P; Hache, J C

    1986-01-01

    Nine patients with symptoms and signs of Refsum's disease are reported. In 6 a systemic accumulation of phytanic acid was demonstrated, together with low phytanic acid oxidase activity in skin fibroblasts in 5 of them. In 3, no disorder of phytanic acid metabolism was demonstrated. In 3, the diagnosis was made during the pre-clinical period. The disease seems more frequent in Northern France, which agrees with the hypothesis of a genetic mutation which would have taken place in Scandinavia some centuries ago and was subsequently spread by the Vikings. The effects of a dietary treatment on serum phytanic acid levels and clinical disorders are reported. The general condition of the patients improved remarkably but only partially. The diet is unpalatable and in some patients the level of serum phytanic acid increased, due to the mobilization of body fat. Patients with very high levels of phytanic acid might be initially treated by plasmapheresis. For the same reason, the diet should supply enough calories to keep body weight unchanged, and body weight loss whatever its cause should be avoided.

  7. Disease-induced variability of genetic correlations: ascites in broilers as a case study.

    PubMed

    de Greef, K H; Janss, L L; Vereijken, A L; Pit, R; Gerritsen, C L

    2001-07-01

    Breeding against a production disease is complicated by multiple relationships between productivity, disease, and environment. Ascites in broilers is such a disease. The combination of the reasonably well understood etiology (a physiological/pathological cascade due to inadequate oxygen supply) and the practical relevance makes ascites a relevant case for demonstrating and partly revealing these complex relationships. Chickens (n = 2,788) were tested in an ascites-challenging (cold) environment. Genetic analysis of mortality and pathology in combination with performance and physiological traits (especially blood gas traits) revealed ample opportunities for selection against ascites expression. The genetic correlation structure indicated that different mortality traits and pathology traits roughly represent one common characteristic. Direct selection against pathology is more effective than selection on the basis of growth or blood gas traits. The observed negative correlation (-0.26) between productivity and ascites was unexpected. From the etiology of ascites (inadequate supply of oxygen relative to the demand), a positive (unfavorable) correlation was expected. To demonstrate that the actual disease occurrence caused this apparent contradiction, the data from the undiseased subpopulation were reanalyzed. In the undiseased subpopulation, the genetic correlation between productivity and ascites was positive (0.29). This discrepancy was confirmed by comparing regression of ascites expression on actual performance with regression of ascites on independently assessed performance breeding values. The lability of the genetic correlation was explained from complex interactions between productivity, disease susceptibility, and actual occurrence of the disease. The revealed mechanism can be generalized to other production-related diseases and results in systematically lower genetic correlations between disease and productivity. It was inferred that genetic correlations

  8. Linguistic correlates of asymmetric motor symptom severity in Parkinson's Disease.

    PubMed

    Holtgraves, Thomas; McNamara, Patrick; Cappaert, Kevin; Durso, Raymond

    2010-03-01

    Asymmetric motor severity is common in Parkinson's Disease (PD) and provides a method for examining the neurobiologic mechanisms underlying cognitive and linguistic deficits associated with the disorder. In the present research, PD participants (N=31) were assessed in terms of the asymmetry of their motor symptoms. Interviews with the participants were analyzed with the Linguistic Inquiry and Word Count (LIWC) program. Three measures of linguistic complexity - the proportion of verbs, proportion of function words, and sentence length - were found to be affected by symptom asymmetry. Greater left-side motor severity (and hence greater right-hemisphere dysfunction) was associated with the production of significantly fewer verbs, function words, and shorter sentences. Hence, the production of linguistic complexity in a natural language context was associated with relatively greater right hemisphere involvement. The potential neurobiological mechanisms underlying this effect are discussed.

  9. FMRI correlates of apraxia in Parkinson's disease patients OFF medication.

    PubMed

    Foki, T; Pirker, W; Klinger, N; Geissler, A; Rath, J; Steinkellner, T; Hoellinger, I; Gruber, S; Haubenberger, D; Lehrner, J; Pusswald, G; Trattnig, S; Auff, E; Beisteiner, R

    2010-10-01

    Impairment of hand dexterity in Parkinson's disease (PD) is usually attributed to bradykinesia. Recently, behavioral studies illustrated that decreased dexterity might also be due to limb-kinetic apraxia (LkA), as demonstrated by impaired performance in a coin rotation task. Here, we provide a first investigation on whether functional magnetic resonance imaging (fMRI) may reveal specific brain activation patterns for PD patients with impaired performance in a coin rotation task. We compared coin rotation as an apraxia task to simple finger tapping as a bradykinesia task in ten PD patients OFF medication and matched healthy controls. In addition to a tendency for general overactivation, PD patients showed a perirolandic dissociation with precentral overactivation and postcentral underactivation. This finding significantly separated PD patients from healthy controls. Copyright © 2010 Elsevier Inc. All rights reserved.

  10. Pilot study of correlation of pulp stones with cardiovascular disease.

    PubMed

    Edds, A C; Walden, J E; Scheetz, J P; Goldsmith, L J; Drisko, C L; Eleazer, P D

    2005-07-01

    We propose that calcification of dental pulp may have a similar pathogenesis as calcified atheromas and could lead to use of routine dental radiographs as a rapid screening method for early identification of potential cardiovascular disease (CVD). Fifty-five dental patients ages 20 to 55 were chosen because pulp stones in pulpally noninflamed teeth were not expected in this age group. They completed a questionnaire regarding their CVD status and that of their parents and siblings. Entry criteria included at least one asymptomatic, minimally restored, noncarious molar and no history of gout, renal disease, or renal lithiasis. Patients' periapical radiographs of record were viewed to determine the presence of pulp stones. There was a significant relationship between pre-existing CVD and pulp stones (odds ratio of 4.4 with a 95% confidence interval of 1.1, 18.7), but no relationship was found for family history of CVD and pulp stones (odds ratio of 1.7 with a 95% confidence interval of 0.5, 5.5). Seventy-four percent (14/19) of patients with reported CVD had detectable pulp stones while only 39% (14/36) of patients without a history of CVD had pulp stones. This pilot study demonstrates that patients with CVD have an increased incidence of pulp stones in teeth with noninflamed pulps compared to patients with no history of CVD. No relationship was found between presence of pulp stones and family history of CVD. The findings suggest that dental radiographic determination of the presence or absence of pulp stones may have possibilities for use in CVD screening.

  11. Do Traditional Symptoms of Hypothyroidism Correlate with Biochemical Disease?

    PubMed Central

    Canaris, Gay J; Steiner, John F; Ridgway, E Chester

    1997-01-01

    OBJECTIVE Hypothyroidism often remains undetected because of the difficulty associating symptoms with disease. To determine the relation between symptoms and biochemical disease, we assessed symptoms and serum thyroid function tests, concurrently, for patients with and without hypothyroidism. DESIGN Cross-sectional study. SETTING/ PATIENTS Seventy-six newly diagnosed case patients with overt hypothyroidism and 147 matched control patients identified through outpatient laboratories in Michigan and Colorado. MEASUREMENTS AND MAIN RESULTS Patient symptoms were assessed by questionnaire. Case patients reported a higher proportion of hypothyroid symptoms than did control patients (30.2% vs 16.5%, p < .0001). Univariate analysis identified three significant predictors of an elevated level of thyroid-stimulating hormone (TSH) ( p < .05), and 13 symptoms which, when they had changed in the past year, were reported more often by case patients with hypothyroidism than by control patients ( p < .005). Individuals reporting changes in 7 or more symptoms were significantly more likely to have hypothyroidism (likelihood ratio [LR] = 8.7, 95% confidence interval [CI] 3.8, 20.2); those reporting changes in 2 or fewer symptoms were less likely to have hypothyroidism (LR = 0.5, 95% CI 0.4 , 0.7). CONCLUSIONS In this sample, the number of hypothyroid symptoms reported was directly related to the level of TSH. The association was stronger when more symptoms were reported. Symptoms that had changed in the past year were more powerful than symptoms reported present at the time of testing. This suggests that traditional symptoms are valuable when deciding which patients to test for hypothyroidism. PMID:9294788

  12. Frontal Assessment Battery in Parkinson's Disease: Validity and Morphological Correlates.

    PubMed

    Bezdicek, Ondrej; Růžička, Filip; Fendrych Mazancova, Adela; Roth, Jan; Dušek, Pavel; Mueller, Karsten; Růžička, Evžen; Jech, Robert

    2017-09-01

    Executive dysfunction is a common feature in Parkinson's disease (PD). However, there is a lack of brief validated instruments for executive dysfunction in PD. The aim of the present study was to assess the relation of Frontal Assessment Battery (FAB) scores to age and education, to verify the utility of FAB in the evaluation of executive dysfunction in PD and to differentiate between controls (n=41), PD patients with normal cognition (PD-NC; n=41; Hoehn and Yahr stages 2-3) and PD with mild cognitive impairment (PD-MCI; n=32; Hoehn and Yahr stages 2-3). In addition, we studied the relation between voxel-based morphometric (VBM) data and FAB results in PD. We found that FAB scores are significantly related to age and education. The FAB has shown discriminative validity for the differentiation of PD-MCI from PD-NC and controls (area under the curve >.80). Also, the VBM analysis revealed lower FAB scores are specifically related to lower gray matter density in the right ventromedial prefrontal areas and precuneus. The FAB can be recommended as a valid instrument for PD-MCI Level I screening. FAB is sensitive to frontal lobe involvement in PD as reflected by lower gray matter density in prefrontal areas. (JINS, 2017, 23, 675-684).

  13. Neuroimaging correlates of cognitive impairment and dementia in Parkinson's disease.

    PubMed

    Mak, Elijah; Su, Li; Williams, Guy B; O'Brien, John T

    2015-08-01

    There has been a gradual shift in the definition of Parkinson's disease, from a movement disorder to a neurodegenerative condition affecting multiple cognitive domains. Mild cognitive impairment (PD-MCI) is a frequent comorbidity in PD that is associated with progression to dementia (PDD) and debilitating consequences for patients and caregivers. At present, the pathophysiology underpinning cognitive impairment in PD is not established, although emerging evidence has suggested that multi-modal imaging biomarkers could be useful in the early diagnosis of PD-MCI and PDD, thereby identifying at-risk patients to enable treatment at the earliest stage possible. Structural MRI studies have revealed prominent grey matter atrophy and disruptions of white matter tracts in PDD, although findings in non-demented PD have been more variable. There is a need for further longitudinal studies to clarify the spatial and temporal progression of morphological changes in PD, as well as to assess their underlying involvement in the evolution of cognitive deficits. In this review, we discuss the aetiology and neuropsychological profiles of PD-MCI and PDD, summarize the putative imaging substrates in light of evidence from multi-modal neuroimaging studies, highlight limitations in the present literature, and suggest recommendations for future research.

  14. Exploring homogeneity of correlation structures of gene expression datasets within and between etiological disease categories.

    PubMed

    Jong, Victor L; Novianti, Putri W; Roes, Kit C B; Eijkemans, Marinus J C

    2014-12-01

    The literature shows that classifiers perform differently across datasets and that correlations within datasets affect the performance of classifiers. The question that arises is whether the correlation structure within datasets differ significantly across diseases. In this study, we evaluated the homogeneity of correlation structures within and between datasets of six etiological disease categories; inflammatory, immune, infectious, degenerative, hereditary and acute myeloid leukemia (AML). We also assessed the effect of filtering; detection call and variance filtering on correlation structures. We downloaded microarray datasets from ArrayExpress for experiments meeting predefined criteria and ended up with 12 datasets for non-cancerous diseases and six for AML. The datasets were preprocessed by a common procedure incorporating platform-specific recommendations and the two filtering methods mentioned above. Homogeneity of correlation matrices between and within datasets of etiological diseases was assessed using the Box's M statistic on permuted samples. We found that correlation structures significantly differ between datasets of the same and/or different etiological disease categories and that variance filtering eliminates more uncorrelated probesets than detection call filtering and thus renders the data highly correlated.

  15. Large-vessel correlates of cerebral small-vessel disease

    PubMed Central

    Brisset, Marion; Boutouyrie, Pierre; Pico, Fernando; Zhu, Yicheng; Zureik, Mahmoud; Schilling, Sabrina; Dufouil, Carole; Mazoyer, Bernard; Laurent, Stéphane

    2013-01-01

    Objective: Our aim was to investigate the relationship of carotid structure and function with MRI markers of cerebral ischemic small-vessel disease. Methods: The study comprised 1,800 participants (aged 72.5 ± 4.1 years, 59.4% women) from the 3C-Dijon Study, a population-based, prospective cohort study, who had undergone quantitative brain MRI and carotid ultrasound. We used multivariable logistic and linear regression adjusted for age, sex, and vascular risk factors. Results: Presence of carotid plaque and increasing carotid lumen diameter (but not common carotid artery intima-media thickness) were associated with higher prevalence of lacunar infarcts: odds ratio (OR) = 1.60 (95% confidence interval [CI]: 1.09–2.35), p = 0.02 and OR = 1.24 (95% CI: 1.02–1.50), p = 0.03 (by SD increase). Carotid plaque was also associated with large white matter hyperintensity volume (WMHV) (age-specific top quartile of WMHV distribution): OR = 1.32 (95% CI: 1.04–1.67), p = 0.02, independently of vascular risk factors. Increasing Young elastic modulus and higher circumferential wall stress, reflecting augmented carotid stiffness, were associated with increasing WMHV (effect estimate [β] ± standard error: 0.0003 ± 0.0001, p = 0.024; β ± standard error: 0.005 ± 0.002, p = 0.008). Large WMHV was also associated with increasing Young elastic modulus (OR = 1.22 [95% CI: 1.04–1.42], p = 0.01) and with decreasing distensibility coefficient (OR = 0.83 [95% CI: 0.69–0.99], p = 0.04), independently of vascular risk factors. Associations of carotid lumen diameter with lacunar infarcts and of carotid stiffness markers with WMHV were independent of carotid plaque. Conclusions: In addition to and independently of carotid plaque, increasing carotid lumen diameter and markers of carotid stiffness were associated with increasing prevalence of lacunar infarcts and increasing WMHV, respectively. PMID:23345633

  16. Examination of the Spatial Correlation of Statistics Information in the Ultrasonic Echo from Diseased Liver

    NASA Astrophysics Data System (ADS)

    Yamaguchi, Tadashi; Hachiya, Hiroyuki; Kamiyama, Naohisa; Moriyasu, Fuminori

    2002-05-01

    To realize a quantitative diagnosis of liver cirrhosis, we have been analyzing the characteristics of echo amplitude in B-mode images. Realizing the distinction between liver diseases such as liver cirrhosis and chronic hepatitis is required in the field of medical ultrasonics. In this study, we examine the spatial correlation, with the coefficient of correlation between the frames and the amplitude characteristics of each frame, using the volumetric data of RF echo signals from normal and diseased liver. It is found that there is a relationship between the tissue structure of liver and the spatial correlation of echo information.

  17. Serum microRNA-125a-5p, a useful biomarker in liver diseases, correlates with disease progression.

    PubMed

    Zheng, Jianjian; Zhou, Zhenxu; Xu, Ziqiang; Li, Guojun; Dong, Peihong; Chen, Zhanguo; Lin, Dezhao; Chen, Bicheng; Yu, Fujun

    2015-07-01

    It has been demonstrated that liver microRNA-125a-5p (miR-125a-5p) is correlated with disease progression in different liver diseases, including liver fibrosis and hepatocellular carcinoma (HCC). The present study investigated whether serum miR-125a-5p correlated with the progression of different liver diseases. Serum samples were obtained from healthy individuals, patients with chronic hepatitis B who had undergone a liver biopsy, and patients with HCC and were analyzed for the levels of miR-125a-5p. Compared with the healthy controls, the serum levels of miR-125a-5p were significantly higher in the liver fibrosis serum, and were reduced in HCC. With the development of liver fibrosis, there was a significant increase in the expression of miR-125a-5p (P<0.05). In comparing histological activity index (HAI) scores, higher expression levels of miR125a-5p were observed in the high HAI score group (P<0.05). Furthermore, correlation between serum miR-125a-5p and viral replication (P<0.001) was observed. Notably, miR-125a-5p demonstrated significant correlation with other markers in the liver fibrosis group (P<0.001). In the patients with HCC, lower serum levels of miR-125a-5p were correlated with a poor prognosis, determined by Kaplan-Meier curve analysis (P=0.009). In the liver fibrosis and HCC groups, different expression levels of serum miR-125a-5p were observed, and were correlated with disease progression. The results of the present study suggested that serum miR-125a-5p may be used as a non-invasive biomarker for monitoring disease progression in liver diseases.

  18. Does APO ε4 correlate with MRI changes in Alzheimer's disease?

    PubMed Central

    Doody, R; Azher, S; Haykal, H; Dunn, J; Liao, T; Schneider, L

    2000-01-01

    OBJECTIVE—To assess the relation between APO E genotype and MRI white matter changes in Alzheimer's disease. The APO ε4 allele is correlated with amyloid angiopathy and other neuropathologies in Alzheimer's disease and could be associated with white matter changes. If so, there should be a dose effect.
METHODS—104 patients with probable Alzheimer's disease (NINCDS-ADRDA criteria) in this Alzheimer's Disease Research Centre were studied. Patients received MRI and APO E genotyping by standardised protocols. Axial MRI was scored (modified Schelten's scale) for the presence and degree of white matter changes and atrophy in several regions by a neuroradiologist blinded to genotype. Total white matter and total atrophy scores were also generated. Data analysis included Pearson's correlation for regional and total imaging scores and analysis of variance (ANOVA) (or Kruskal-Wallis) and χ2 for demographic and disease related variables.
RESULTS—30 patients had no ε4, 53 patients were heterozygous, and 21 patients were homozygous. The three groups did not differ in sex distribution, age of onset, age at MRI, MMSE, clinical dementia rating, or modified Hachinski ischaemia scores. There were no significant correlations between total or regional white matter scores and APO E genotype (Pearson correlation).
CONCLUSIONS—No correlation between total or regional white matter scores and APO E genotype was found. The pathogenesis of white matter changes in Alzheimer's disease may be independent of APO E genotype.

 PMID:11032626

  19. No Geographic Correlation between Lyme Disease and Death Due to 4 Neurodegenerative Disorders, United States, 2001-2010.

    PubMed

    Forrester, Joseph D; Kugeler, Kiersten J; Perea, Anna E; Pastula, Daniel M; Mead, Paul S

    2015-11-01

    Associations between Lyme disease and certain neurodegenerative diseases have been proposed, but supportive evidence for an association is lacking. Similar geographic distributions would be expected if 2 conditions were etiologically linked. Thus, we compared the distribution of Lyme disease cases in the United States with the distributions of deaths due to Alzheimer disease, amyotrophic lateral sclerosis (ALS), multiple sclerosis (MS), and Parkinson disease; no geographic correlations were identified. Lyme disease incidence per US state was not correlated with rates of death due to ALS, MS, or Parkinson disease; however, an inverse correlation was detected between Lyme disease and Alzheimer disease. The absence of a positive correlation between the geographic distribution of Lyme disease and the distribution of deaths due to Alzheimer disease, ALS, MS, and Parkinson disease provides further evidence that Lyme disease is not associated with the development of these neurodegenerative conditions.

  20. No Geographic Correlation between Lyme Disease and Death Due to 4 Neurodegenerative Disorders, United States, 2001–2010

    PubMed Central

    Kugeler, Kiersten J.; Perea, Anna E.; Pastula, Daniel M.; Mead, Paul S.

    2015-01-01

    Associations between Lyme disease and certain neurodegenerative diseases have been proposed, but supportive evidence for an association is lacking. Similar geographic distributions would be expected if 2 conditions were etiologically linked. Thus, we compared the distribution of Lyme disease cases in the United States with the distributions of deaths due to Alzheimer disease, amyotrophic lateral sclerosis (ALS), multiple sclerosis (MS), and Parkinson disease; no geographic correlations were identified. Lyme disease incidence per US state was not correlated with rates of death due to ALS, MS, or Parkinson disease; however, an inverse correlation was detected between Lyme disease and Alzheimer disease. The absence of a positive correlation between the geographic distribution of Lyme disease and the distribution of deaths due to Alzheimer disease, ALS, MS, and Parkinson disease provides further evidence that Lyme disease is not associated with the development of these neurodegenerative conditions. PMID:26488307

  1. Nasal obstruction and smell impairment in nasal polyp disease: correlation between objective and subjective parameters.

    PubMed

    Hox, V; Bobic, S; Callebaux, I; Jorissen, M; Hellings, P W

    2010-12-01

    Chronic rhinosinusitis with nasal polyposis (NP) represents an invalidating disorder that causes mainly nasal blockage and loss of smell. The aim of this study is to investigate correlations between individual subjective and objective parameters of stable NP disease. 65 NP patients scored their sinonasal symptoms on a visual analogue scale (VAS) and questionnaires (SNOT-22 and SF-36). Peak nasal inspiratory flow (PNIF) measurement, Sniffinatm Sticks (SS) smell test, blood analysis for eosinophilia, total IgE and culture for Staphylococcus aureus (SA) were performed. VAS scores for nasal blockage correlated with the SNOT-22 and SF-36 scores, which was not observed for VAS of other symptoms. VAS scores for nasal blockage correlated well with PNIF values as well as VAS scores for smell dysfunction and SS results (both p<0.001). NP size correlated with VAS scores for nasal blockage (p<0.01) but not with VAS for other symptoms. NP size showed an inverse correlation with PNIF and SS scores (both p<0.05). Blood eosinophilia correlated with subjective smell reduction (p<0.05). The presence of SA or total IgE levels were not associated with symptoms of NP disease. PNIF and SS are good tools to evaluate symptoms of nasal obstruction and smell reduction in NP disease. Nasal blockage is the only symptom that correlates well with NP size and SNOT-22 scores, whereas smell reduction correlates with blood eosinophilia.

  2. Genotype-phenotype correlations in neurogenetics: Lesch-Nyhan disease as a model disorder.

    PubMed

    Fu, Rong; Ceballos-Picot, Irene; Torres, Rosa J; Larovere, Laura E; Yamada, Yasukazu; Nguyen, Khue V; Hegde, Madhuri; Visser, Jasper E; Schretlen, David J; Nyhan, William L; Puig, Juan G; O'Neill, Patrick J; Jinnah, H A

    2014-05-01

    Establishing meaningful relationships between genetic variations and clinical disease is a fundamental goal for all human genetic disorders. However, these genotype-phenotype correlations remain incompletely characterized and sometimes conflicting for many diseases. Lesch-Nyhan disease is an X-linked recessive disorder that is caused by a wide variety of mutations in the HPRT1 gene. The gene encodes hypoxanthine-guanine phosphoribosyl transferase, an enzyme involved in purine metabolism. The fine structure of enzyme has been established by crystallography studies, and its function can be measured with very precise biochemical assays. This rich knowledge of genetic alterations in the gene and their functional effect on its protein product provides a powerful model for exploring factors that influence genotype-phenotype correlations. The present study summarizes 615 known genetic mutations, their influence on the gene product, and their relationship to the clinical phenotype. In general, the results are compatible with the concept that the overall severity of the disease depends on how mutations ultimately influence enzyme activity. However, careful evaluation of exceptions to this concept point to several additional genetic and non-genetic factors that influence genotype-phenotype correlations. These factors are not unique to Lesch-Nyhan disease, and are relevant to most other genetic diseases. The disease therefore serves as a valuable model for understanding the challenges associated with establishing genotype-phenotype correlations for other disorders.

  3. Genotype–phenotype correlations in neurogenetics: Lesch-Nyhan disease as a model disorder

    PubMed Central

    Fu, Rong; Ceballos-Picot, Irene; Torres, Rosa J.; Larovere, Laura E.; Yamada, Yasukazu; Nguyen, Khue V.; Hegde, Madhuri; Visser, Jasper E.; Schretlen, David J.; Nyhan, William L.; Puig, Juan G.; O’Neill, Patrick J.

    2014-01-01

    Establishing meaningful relationships between genetic variations and clinical disease is a fundamental goal for all human genetic disorders. However, these genotype–phenotype correlations remain incompletely characterized and sometimes conflicting for many diseases. Lesch-Nyhan disease is an X-linked recessive disorder that is caused by a wide variety of mutations in the HPRT1 gene. The gene encodes hypoxanthine-guanine phosphoribosyl transferase, an enzyme involved in purine metabolism. The fine structure of enzyme has been established by crystallography studies, and its function can be measured with very precise biochemical assays. This rich knowledge of genetic alterations in the gene and their functional effect on its protein product provides a powerful model for exploring factors that influence genotype–phenotype correlations. The present study summarizes 615 known genetic mutations, their influence on the gene product, and their relationship to the clinical phenotype. In general, the results are compatible with the concept that the overall severity of the disease depends on how mutations ultimately influence enzyme activity. However, careful evaluation of exceptions to this concept point to several additional genetic and non-genetic factors that influence genotype–phenotype correlations. These factors are not unique to Lesch-Nyhan disease, and are relevant to most other genetic diseases. The disease therefore serves as a valuable model for understanding the challenges associated with establishing genotype–phenotype correlations for other disorders. PMID:23975452

  4. Altered fractal dynamics of gait: reduced stride-interval correlations with aging and Huntington's disease

    NASA Technical Reports Server (NTRS)

    Hausdorff, J. M.; Mitchell, S. L.; Firtion, R.; Peng, C. K.; Cudkowicz, M. E.; Wei, J. Y.; Goldberger, A. L.

    1997-01-01

    Fluctuations in the duration of the gait cycle (the stride interval) display fractal dynamics and long-range correlations in healthy young adults. We hypothesized that these stride-interval correlations would be altered by changes in neurological function associated with aging and certain disease states. To test this hypothesis, we compared the stride-interval time series of 1) healthy elderly subjects and young controls and of 2) subjects with Huntington's disease and healthy controls. Using detrended fluctuation analysis we computed alpha, a measure of the degree to which one stride interval is correlated with previous and subsequent intervals over different time scales. The scaling exponent alpha was significantly lower in elderly subjects compared with young subjects (elderly: 0.68 +/- 0.14; young: 0.87 +/- 0.15; P < 0.003). The scaling exponent alpha was also smaller in the subjects with Huntington's disease compared with disease-free controls (Huntington's disease: 0.60 +/- 0.24; controls: 0.88 +/-0.17; P < 0.005). Moreover, alpha was linearly related to degree of functional impairment in subjects with Huntington's disease (r = 0.78, P < 0.0005). These findings demonstrate that strike-interval fluctuations are more random (i.e., less correlated) in elderly subjects and in subjects with Huntington's disease. Abnormal alterations in the fractal properties of gait dynamics are apparently associated with changes in central nervous system control.

  5. Altered fractal dynamics of gait: reduced stride-interval correlations with aging and Huntington's disease

    NASA Technical Reports Server (NTRS)

    Hausdorff, J. M.; Mitchell, S. L.; Firtion, R.; Peng, C. K.; Cudkowicz, M. E.; Wei, J. Y.; Goldberger, A. L.

    1997-01-01

    Fluctuations in the duration of the gait cycle (the stride interval) display fractal dynamics and long-range correlations in healthy young adults. We hypothesized that these stride-interval correlations would be altered by changes in neurological function associated with aging and certain disease states. To test this hypothesis, we compared the stride-interval time series of 1) healthy elderly subjects and young controls and of 2) subjects with Huntington's disease and healthy controls. Using detrended fluctuation analysis we computed alpha, a measure of the degree to which one stride interval is correlated with previous and subsequent intervals over different time scales. The scaling exponent alpha was significantly lower in elderly subjects compared with young subjects (elderly: 0.68 +/- 0.14; young: 0.87 +/- 0.15; P < 0.003). The scaling exponent alpha was also smaller in the subjects with Huntington's disease compared with disease-free controls (Huntington's disease: 0.60 +/- 0.24; controls: 0.88 +/-0.17; P < 0.005). Moreover, alpha was linearly related to degree of functional impairment in subjects with Huntington's disease (r = 0.78, P < 0.0005). These findings demonstrate that strike-interval fluctuations are more random (i.e., less correlated) in elderly subjects and in subjects with Huntington's disease. Abnormal alterations in the fractal properties of gait dynamics are apparently associated with changes in central nervous system control.

  6. Speech disorders did not correlate with age at onset of Parkinson's disease.

    PubMed

    Dias, Alice Estevo; Barbosa, Maira Tonidandel; Limongi, João Carlos Papaterra; Barbosa, Egberto Reis

    2016-02-01

    Speech disorders are common manifestations of Parkinson´s disease. Objective To compare speech articulation in patients according to age at onset of the disease. Methods Fifty patients was divided into two groups: Group I consisted of 30 patients with age at onset between 40 and 55 years; Group II consisted of 20 patients with age at onset after 65 years. All patients were evaluated based on the Unified Parkinson's Disease Rating Scale scores, Hoehn and Yahr scale and speech evaluation by perceptual and acoustical analysis. Results There was no statistically significant difference between the two groups regarding neurological involvement and speech characteristics. Correlation analysis indicated differences in speech articulation in relation to staging and axial scores of rigidity and bradykinesia for middle and late-onset. Conclusions Impairment of speech articulation did not correlate with age at onset of disease, but was positively related with disease duration and higher scores in both groups.

  7. Hearing loss and vestibular function correlation in Menière's disease patients.

    PubMed

    Boleas-Aguirre, M S; Palomar-Asenjo, V; Sánchez-Ferrándiz, N; Pérez, N

    2008-01-01

    To analyse the correlation between vestibular dysfunction and hearing level of patients diagnosed with Menière's disease. Retrospective study on the correlation between hearing level and unilateral weakness in 100 Menière's disease patients. In order assess the effect of disease severity in such correlation, the study group included 50 patients who subsequently were treated with oral medication and 50 who later received intratympanic gentamicin to control their symptoms. Audiogram and caloric tests were performed before beginning both of the treatments. Patients were classified according to the AAO-HNS guidelines. Handicap was assessed with the Functional Level of the AAO-HNS and the Dizziness Handicap Inventory. No correlation was found between pure tone average and canal paresis neither when patients were analysed as a whole nor when correlation was controlled for the treatment installed afterwards. Nevertheless, when they were grouped by hearing loss AAO-HNS stages, we found a greater canal paresis in those with a higher hearing loss (groups 3 and 4). No correlation was found between hearing loss and canal paresis of patients diagnosed with Menière's disease. However patients with a higher amount of hearing damage have a tendency to abnormal caloric results.

  8. Is there a correlation between the CEAP score and the histopathological findings in varicose disease?

    PubMed

    Mironiuc, A; Palcău, Laura; Rogojan, Liliana; Micula, Sanda; Gherman, Claudia

    2011-01-01

    Varicose disease continues to represent an interesting subject. The factors triggering and maintaining vascular and cutaneous tissues alterations in chronic venous insufficiency are not fully known. This is a prospective, statistical analysis study, performed in a consecutive series of 40 patients with varicose disease admitted and treated at the Surgical Clinic II, Cluj-Napoca. The aim of the paper is to evidence histopathological (HP) changes in the vein wall, as well as to correlate histopathological findings, classified into stages, with the clinical stage of chronic venous insufficiency (CEAP classification). Statistical analysis was performed using the Fischer F-test for the comparison of the variances of two selections and the Student t-test for the comparison of the means. For correlation, Pearson's simple correlation coefficient was used. The software used was Excel and Matlab 7. Following the statistical analysis, the mean of CEAP values was found to be higher than the mean of the histopathological stage values in all patients included in the study and in the different risk groups. The values of Pearson's linear correlation coefficient between CEAP values and histopathological stage values did not generally show a statistically significant correlation. CEAP classification remains the main pillar in the diagnosis and the treatment of varicose disease, even if there are some dissimilarities between the clinical appearance and the histopathological results. The presence of a correlation between histological and clinical aspects in varicose disease remains uncertain.

  9. Quantitative EEG parameters correlate with the progression of human prion diseases

    PubMed Central

    Wehner, Tim; Lowe, Jessica; Porter, Marie-Claire; Kenny, Joanna; Thompson, Andrew; Rudge, Peter; Collinge, John; Mead, Simon

    2016-01-01

    Background Prion diseases are universally fatal and often rapidly progressive neurodegenerative diseases. EEG has long been used in the diagnosis of sporadic Creutzfeldt-Jakob disease; however, the characteristic waveforms do not occur in all types of prion diseases. Here, we re-evaluate the utility of EEG by focusing on the development of biomarkers. We test whether abnormal quantitative EEG parameters can be used to measure disease progression in prion diseases or predict disease onset in healthy individuals at risk of disease. Methods In the National Prion Monitoring Cohort study, we did quantitative encephalography on 301 occasions in 29 healthy controls and 67 patients with prion disease. The patients had either inherited prion disease or sporadic Creutzfeldt-Jakob disease. We computed the main background frequency, the α and θ power and the α/θ power ratio, then averaged these within 5 electrode groups. These measurements were then compared among participant groups and correlated with functional and cognitive scores cross-sectionally and longitudinally. Results We found lower main background frequency, α power and α/θ power ratio and higher θ power in patients compared to control participants. The main background frequency, the power in the α band and the α/θ power ratio also differed in a consistent way among the patient groups. Moreover, the main background frequency and the α/θ power ratio correlated significantly with functional and cognitive scores. Longitudinally, change in these parameters also showed significant correlation with the change in clinical and cognitive scores. Conclusions Our findings support the use of quantitative EEG to follow the progression of prion disease, with potential to help evaluate the treatment effects in future clinical-trials. PMID:27413165

  10. Correlation between automated writing movements and striatal dopaminergic innervation in patients with Wilson's disease.

    PubMed

    Hermann, Wieland; Eggers, Birk; Barthel, Henryk; Clark, Daniel; Villmann, Thomas; Hesse, Swen; Grahmann, Friedrich; Kühn, Hans-Jürgen; Sabri, Osama; Wagner, Armin

    2002-08-01

    Handwriting defects are an early sign of motor impairment in patients with Wilson's disease. The basal ganglia being the primary site of copper accumulation in the brain suggests a correlation with lesions in the nigrostiatal dopaminergic system. We have analysed and correlated striatal dopaminergic innervation using [(123)I]beta-CIT-SPECT and automated handwriting movements in 37 patients with Wilson's disease. There was a significant correlation of putaminal dopaminergic innervation with fine motor ability (p < 0,05 for NIV [number of inversion in velocity], NIA [number of inversion in acceleration], frequency). These data suggest that loss of dorsolateral striatal dopaminergic innervation has a pathophysiological function for decreased automated motor control in Wilson's disease. Furthermore analysis of automated handwriting movements could be useful for therapy monitoring and evaluation of striatal dopaminergic innervation.

  11. A scientific correlation between dystemprament in Unani medicine and diseases: a systematic review

    PubMed Central

    Miraj, Sepideh; Kiani, Sara

    2016-01-01

    Background Temperament or mezaj refers to four different humors differentiating in individuals and, as a result, proposes specific therapy for their diseases. Objective The aim of this study was to overview the scientific correlation between temperaments in Unani medicine and diseases. Methods This study was carried out from March 2015 to February 2016. A computerized search of published articles was performed using PubMed, Google Scholar, Scopus and Web of Science, and Medline databases as well as local and regional resources between 1983 and 2014. The search terms used were temperament, dystemprament, diseases, mizaj, sue mizaj. Additional sources were identified through cross-referencing. Results The result of this study indicated the relationship between dystemprament and incidence of some diseases such as muscle diseases, skin diseases, asthma, palpitation, bipolar disorder, hemodialysis hysteria, hypertension, sinusitis, aging, diabetes, diarrhea. However, further studies are needed to prove the role of dystemprament in incidence of other diseases. Conclusion The result of this study indicated the relationship between dystemprament and incidence of some disease such as muscle diseases, skin diseases, asthma, palpitation, bipolar disorder, hemodialysis hysteria, hypertension, sinusitis, aging, diabetes, diarrhea. These results are helpful for patients and physicians to change humors toward equilibrium to avoid diseases. Further studies are required to discover the relationship between dystemprament and other diseases. PMID:28070258

  12. Neural Correlates of Efficacy of Voice Therapy in Parkinson’s Disease Identified by Performance–Correlation Analysis

    PubMed Central

    Narayana, Shalini; Fox, Peter T.; Zhang, Wei; Franklin, Crystal; Robin, Donald A.; Vogel, Deanie; Ramig, Lorraine O.

    2009-01-01

    LSVT® LOUD (Lee Silverman Voice Treatment) is efficacious in the treatment of speech disorders in idiopathic Parkinson’s disease (IPD), particularly hypophonia. Functional imaging in patients with IPD has shown abnormalities in several speech regions and changes in these areas immediately following treatment. This study serves to extend the analysis by correlating changes of regional neural activity with the main behavioral change following treatment, namely, increased vocal intensity. Ten IPD participants with hypophonia were studied before and after LSVT LOUD. Cerebral blood flow during rest and reading conditions were measured by H215O-positron emission tomography. Z-score images were generated by contrasting reading with rest conditions for pre- and post-LSVT LOUD sessions. Neuronal activity during reading in the pre- versus post-LSVT LOUD contrast was correlated with corresponding change in vocal intensity to generate correlation images. Behaviorally, vocal intensity for speech tasks increased significantly after LSVT LOUD. The contrast and correlation analyses indicate a treatment-dependent shift to the right hemisphere with modification in the speech motor regions as well as in prefrontal and temporal areas. We interpret the modification of activity in these regions to be a top–down effect of LSVT LOUD. The absence of an effect of LSVT LOUD on the basal ganglion supports this argument. Our findings indicate that the therapeutic effect of LSVT LOUD in IPD hypophonia results from a shift in cortical activity to the right hemisphere. These findings demonstrate that the short-term changes in the speech motor and multimodal integration areas can occur in a top–down manner. PMID:19639554

  13. Diffusion tensor imaging of corpus callosum integrity in multiple sclerosis: correlation with disease variables.

    PubMed

    Sigal, Tal; Shmuel, Miron; Mark, Dolev; Gil, Harari; Anat, Achiron

    2012-01-01

    Corpus callosum (CC) is frequently involved in multiple sclerosis (MS). We aimed to investigate the relations between CC microstructure integrity as measured by diffusion tensor imaging (DTI) in relapsing-remitting MS patients with low neurological disability in comparison with age-matched healthy subjects and further to identify correlations between DTI-CC parameters and clinical variables of MS disease activity. CC volume was measured on 3.0T brain MRI by MS Analyze software. DTI metrics acquired along 31 independent directions were obtained and fractional anisotropy (FA), apparent diffusion coefficient (ADC), longitudinal (λ1) and transverse (λ 2, λ 3) diffusivities were measured in MS patients and healthy subjects. Disease activity was assessed by relapse rate and neurolgical disability by the Extended Disability Status Scale (EDSS). Thirty relapsing-remitting MS patients and 30 age- and sex-matched healthy subjects were studied. CC volume and DTI metrics differed significantly between MS patients and healthy subjects. In MS patients, all DTI parameters correlated with neurological disability. ADC, longitudinal and transverse diffusivity correlated with disease duration. ADC and the transverse diffusivity correlated with relapse rate. CC DTI parameters, especially ADC and transverse diffusivity correlated with disease variables especially with those associated with clinical activity. Copyright © 2010 by the American Society of Neuroimaging.

  14. Genotype-phenotype correlations in Lesch-Nyhan disease: moving beyond the gene.

    PubMed

    Fu, Rong; Jinnah, H A

    2012-01-27

    Lesch-Nyhan disease and its attenuated variants are caused by mutations in the HPRT1 gene, which encodes the purine recycling enzyme hypoxanthine-guanine phosphoribosyltransferase. The mutations are heterogeneous, with more than 400 different mutations already documented. Prior efforts to correlate variations in the clinical phenotype with different mutations have suggested that milder phenotypes typically are associated with mutants that permit some residual enzyme function, whereas the most severe phenotype is associated with null mutants. However, multiple exceptions to this concept have been reported. In the current studies 44 HPRT1 mutations associated with a wide spectrum of clinical phenotypes were reconstructed by site-directed mutagenesis, the mutant enzymes were expressed in vitro and purified, and their kinetic properties were examined toward their substrates hypoxanthine, guanine, and phosphoribosylpyrophosphate. The results provide strong evidence for a correlation between disease severity and residual catalytic activity of the enzyme (k(cat)) toward each of its substrates as well as several mechanisms that result in exceptions to this correlation. There was no correlation between disease severity and the affinity of the enzyme for its substrates (K(m)). These studies provide a valuable model for understanding general principles of genotype-phenotype correlations in human disease, as the mechanisms involved are applicable to many other disorders.

  15. High Interleukin 17 Expression Is Correlated With Better Cardiac Function in Human Chagas Disease

    PubMed Central

    Magalhães, Luisa M. D.; Villani, Fernanda N. A.; Nunes, Maria do Carmo P.; Gollob, Kenneth J.; Rocha, Manoel O. C.; Dutra, Walderez O.

    2013-01-01

    This study was designed to investigate whether the expression of interleukin 17 (IL-17) is associated with the indeterminate or cardiac clinical forms of Chagas disease and whether IL-17 expression can be correlated with patients' cardiac function. Our results demonstrated that cardiac Chagas patients have a lower intensity of expression of IL-17 by total lymphocytes and lower frequency of circulating T helper 17 cells. Correlative analysis showed that high IL-17 expression was associated with better cardiac function, as determined by left ventricular ejection fraction and left ventricular diastolic diameter values. Therefore, IL-17 expression can be a protective factor to prevent myocardial damage in human Chagas disease. PMID:23204182

  16. Correlation between ankle brachial index and coronary artery disease severity in elderly Egyptians.

    PubMed

    Amer, Moatasem S; Tawfik, Heba Mohamed; Elmoteleb, Ayman M Abd; Maamoun, Manar M A

    2014-11-01

    We investigated the association between ankle brachial index (ABI) and coronary heart disease (CHD) severity in elderly Egyptians using different measures. We conducted a case-control study from November 2010 to June 2012 including 200 male and female patients with ischemia≥60 years who were divided into 100 cases and 100 controls according to ABI and redivided according to age. They underwent coronary angiography followed by ABI measurement using a hand-held Doppler. The CHD severity was estimated using the SYNTAX and Jeopardy scores and number of diseased vessels, which increased significantly in patients with peripheral artery disease (P<.001) for all. All 3 measures had strong negative correlation with ABI (P≤.001 for Jeopardy, <.001 for SYNTAX scores, and .004 for number of diseased vessels) and were correlated with each other. We concluded that ABI can reflect CHD severity in elderly Egyptians.

  17. Calprotectin in gingival crevicular fluid correlates with clinical and biochemical markers of periodontal disease.

    PubMed

    Kido, J; Nakamura, T; Kido, R; Ohishi, K; Yamauchi, N; Kataoka, M; Nagata, T

    1999-10-01

    Clinical and biochemical markers of periodontal disease have been used for precise objective diagnosis of periodontal inflammation. Interleukin 1beta (IL-1beta) and prostaglandin E2 (PGE2), inflammatory factors, levels in gingival crevicular fluid (GCF) of patients with periodontal disease are elevated and have been studied as biochemical markers. The levels of calprotectin, a leukocyte protein, in body fluids of patients with some inflammatory diseases are raised. Recently, we detected calprotectin in GCF and its concentrations in periodontal pockets were higher than those in healthy gingival crevices. In this study, we investigated the correlations between GCF calprotectin levels and clinical indicators (probing depth and bleeding on probing, BOP), and the IL-1beta or PGE2 levels in GCE Probing depth and BOP at 130 sites of 110 subjects with periodontal or other oral diseases were examined, then GCF samples were collected and their calprotectin, IL-1beta and PGE2 were determined by ELISA. The calprotectin level correlated positively with the probing depth and was significantly higher at BOP-positive than BOP-negative sites. There were significant, positive correlations between the calprotectin and IL-1beta or PGE2 concentrations. These results indicate that the calprotectin level in GCF correlates well with clinical and biochemical markers of periodontal disease and suggest that calprotectin may be useful for evaluating the extent of periodontal inflammation.

  18. Lack of correlation of degree of villous atrophy with severity of clinical presentation of coeliac disease.

    PubMed

    Brar, P; Kwon, G Y; Egbuna, I I; Holleran, S; Ramakrishnan, R; Bhagat, G; Green, P H R

    2007-01-01

    Both the clinical presentation and the degree of mucosal damage in coeliac disease vary greatly. In view of conflicting information as to whether the mode of presentation correlates with the degree of villous atrophy, we reviewed a large cohort of patients with coeliac disease. We correlated mode of presentation (classical, diarrhoea predominant or atypical/silent) with histology of duodenal biopsies and examined their trends over time. The cohort consisted of 499 adults, mean age 44.1 years, 68% females. The majority had silent coeliac disease (56%) and total villous atrophy (65%). There was no correlation of mode of presentation with the degree of villous atrophy (p=0.25). Sixty-eight percent of females and 58% of males had a severe villous atrophy (p=0.052). There was a significant trend over time for a greater proportion of patients presenting as atypical/silent coeliac disease and having partial villous atrophy, though the majority still had total villous atrophy. Among our patients the degree of villous atrophy in duodenal biopsies did not correlate with the mode of presentation, indicating that factors other than the degree of villous atrophy must account for diarrhoea in coeliac disease.

  19. Specificity of immunoglobulin E in coccidioidomycosis and correlation with disease involvement.

    PubMed Central

    Cox, R A; Baker, B S; Stevens, D A

    1982-01-01

    Serum immunoglobulin E (IgE) antibodies were quantitated in 26 patients with active pulmonary coccidioidomycosis, 59 patients with active disseminated disease, 12 patients in clinical remission, and 91 healthy subjects. Significant differences were obtained in IgE serum levels of patients with active disease versus healthy subjects (P less than 0.0001). Patients with pulmonary coccidioidomycosis did not differ in their IgE levels when compared with patients with disseminated disease. However, serum IgE levels were significantly increased in patients with disease involving two or more organ systems when compared with patients with pulmonary disease or extrapulmonary disease involving a single organ system (P less than 0.02). Total serum IgE correlated with anti-Coccidioides IgE (P less than 0.001), but with only six exceptions, patients with anti-Coccidioides IgE also exhibited IgE antibodies to 1 or more of 12 common allergens. The correlation between hyperproduction of IgE and disease severity coupled with the depressed cell-mediated immune status of patients with this disease suggests a defect(s) in the T-lymphocyte population which functions to regulate IgE synthesis. PMID:7118252

  20. [Correlation between cognitive impairment and postural instability in patients with Parkinson's disease].

    PubMed

    Owan, Yoshiyuki; Murakami, Hidetomo; Mori, Yukiko; Yamagishi, Keiko; Watanabe, Daishi; Kato, Hirotaka; Kezuka, Machiko; Kawamura, Mitsuru

    2015-01-01

    Correlation between frontal-executive function and motor functions, such as gait and postural control, has attracted attention in Parkinson's disease (PD). However, correlations between other cognitive functional domains and motor functions have not been examined. Thus, we examined the correlation between different domains of cognitive function and motor functions. Sixty-five PD patients were recruited for the present study. Cognitive functions were assessed by the 10 subtests of the Neurobehavioral Cognitive Status Examination (COGNISTAT). Motor functions were assessed by the Unified Parkinson's Disease Rating Scale (UPDRS) as partIII for general motor function and sum of related items for tremor, rigidity, bradykinesia, and postural instability. Spearman's correlation coefficients between each cognitive and motor assessment were compared. Among the 10 subtests of the COGNISTAT, constructions showed significant correlation with UPDRS partIII (p<0.01), bradykinesia (p<0.01), and postural instability (p<0.001). The latter correlation was stronger than those between all motor assessments and both all patients backgrounds and other COGNISTAT subtests. In PD patients, postural instability correlates with not only frontal executive dysfunctions but also parietal dysfunctions, such as visuospatial and constructive impairments. The postural maintenance system is suggested to share common physiology with not only frontal-executive function but also parietal functions.

  1. [Research on the correlation between Chinese medical syndrome types and objective indices of Wilson's disease].

    PubMed

    Wang, Gong-qiang; Ma, Xin-feng; Wang, Wei; Sun, Quan; Zhou, Zhi-hua; Han, Yong-zhu

    2013-11-01

    To explore the correlation between Chinese medical syndrome types of Wilson's disease (WD) and clinical materials as well as physical and chemical indices. Totally 116 WD patients were typed by Chinese medical syndrome. The correlation between Chinese medical syndrome types and clinical materials as well as physical and chemical indices were analyzed using binary stepwise Logistic regression by SPSS 19.0 Software, taking the common Chinese medical syndrome types as the dependent variable and clinical materials as well as physical and chemical indices as the independent variables. Gan-Galibladder dampness-heat syndrome (GGDHS, 35.3%). Gan-stagnation and Pi-deficiency syndrome (GSPDS, 13.8%), Gan-Shen yin deficiency syndrome (GSYDS, 13.8%), and phlegm-dampness retention syndrome (PDRS, 12.1%) were most often seen. GGDHS was positively correlated with grade of K-F ring, total bilirubin (TBIL), alanine transaminase (ALT), laminin (LN) (P < 0.01). GSYDS was positively correlated with TBIL (P < 0.01). PDRS was positively correlated with clinical types, ceruloplasmin (CP), aspartate aminotransferase (AST), and total protein (TP) (P < 0.01, P < 0.05). Qi blood deficiency syndrome was positively correlated with disease course, blood ammonia, blood urea nitrogen (BUN), and LN (P < 0.01, P < 0.05). Chinese medical syndrome types were correlated with clinical materials, physical and chemical indices in WD patients, which could provide experimental reference for Chinese medical syndrome typing. GGDHS, GSPDS, GSYDS, and PDRS were most often seen.

  2. Neuroanatomical Correlates of Recognizing Face Expressions in Mild Stages of Alzheimer’s Disease

    PubMed Central

    Sapey-Triomphe, Laurie-Anne; Heckemann, Rolf A.; Boublay, Nawele; Dorey, Jean-Michel; Hénaff, Marie-Anne; Rouch, Isabelle; Padovan, Catherine; Hammers, Alexander; Krolak-Salmon, Pierre

    2015-01-01

    Early Alzheimer’s disease can involve social disinvestment, possibly as a consequence of impairment of nonverbal communication skills. This study explores whether patients with Alzheimer’s disease at the mild cognitive impairment or mild dementia stage have impaired recognition of emotions in facial expressions, and describes neuroanatomical correlates of emotion processing impairment. As part of the ongoing PACO study (personality, Alzheimer’s disease and behaviour), 39 patients with Alzheimer’s disease at the mild cognitive impairment or mild dementia stage and 39 matched controls completed tests involving discrimination of four basic emotions—happiness, fear, anger, and disgust—on photographs of faces. In patients, automatic volumetry of 83 brain regions was performed on structural magnetic resonance images using MAPER (multi-atlas propagation with enhanced registration). From the literature, we identified for each of the four basic emotions one brain region thought to be primarily associated with the function of recognizing that emotion. We hypothesized that the volume of each of these regions would be correlated with subjects’ performance in recognizing the associated emotion. Patients showed deficits of basic emotion recognition, and these impairments were correlated with the volumes of the expected regions of interest. Unexpectedly, most of these correlations were negative: better emotional facial recognition was associated with lower brain volume. In particular, recognition of fear was negatively correlated with the volume of amygdala, disgust with pallidum, and happiness with fusiform gyrus. Recognition impairment in mild stages of Alzheimer’s disease for a given emotion was thus associated with less visible atrophy of functionally responsible brain structures within the patient group. Possible explanations for this counterintuitive result include neuroinflammation, regional β-amyloid deposition, or transient overcompensation during early

  3. Neuroanatomical Correlates of Recognizing Face Expressions in Mild Stages of Alzheimer's Disease.

    PubMed

    Sapey-Triomphe, Laurie-Anne; Heckemann, Rolf A; Boublay, Nawele; Dorey, Jean-Michel; Hénaff, Marie-Anne; Rouch, Isabelle; Padovan, Catherine; Hammers, Alexander; Krolak-Salmon, Pierre

    2015-01-01

    Early Alzheimer's disease can involve social disinvestment, possibly as a consequence of impairment of nonverbal communication skills. This study explores whether patients with Alzheimer's disease at the mild cognitive impairment or mild dementia stage have impaired recognition of emotions in facial expressions, and describes neuroanatomical correlates of emotion processing impairment. As part of the ongoing PACO study (personality, Alzheimer's disease and behaviour), 39 patients with Alzheimer's disease at the mild cognitive impairment or mild dementia stage and 39 matched controls completed tests involving discrimination of four basic emotions-happiness, fear, anger, and disgust-on photographs of faces. In patients, automatic volumetry of 83 brain regions was performed on structural magnetic resonance images using MAPER (multi-atlas propagation with enhanced registration). From the literature, we identified for each of the four basic emotions one brain region thought to be primarily associated with the function of recognizing that emotion. We hypothesized that the volume of each of these regions would be correlated with subjects' performance in recognizing the associated emotion. Patients showed deficits of basic emotion recognition, and these impairments were correlated with the volumes of the expected regions of interest. Unexpectedly, most of these correlations were negative: better emotional facial recognition was associated with lower brain volume. In particular, recognition of fear was negatively correlated with the volume of amygdala, disgust with pallidum, and happiness with fusiform gyrus. Recognition impairment in mild stages of Alzheimer's disease for a given emotion was thus associated with less visible atrophy of functionally responsible brain structures within the patient group. Possible explanations for this counterintuitive result include neuroinflammation, regional β-amyloid deposition, or transient overcompensation during early stages of

  4. Correlation between serological biomarkers and endoscopic activity in patients with inflammatory bowel disease.

    PubMed

    Miranda-García, Pablo; Chaparro, María; Gisbert, Javier P

    2016-10-01

    Endoscopy is the gold standard for assessing disease severity in inflammatory bowel disease (IBD), although it is an invasive procedure. Biological markers have been routinely used as a non-invasive means of determining disease activity. The aim of this study was to determine the correlation between common biological markers and endoscopic activity in IBD. Consecutive patients with IBD were included. Serum concentrations of different biomarkers (C-reactive protein [CRP], orosomucoid [ORM], erythrocyte sedimentation rate [ESR], fibrinogen, platelets, leukocytes, neutrophils and hemoglobin [Hb]) were measured, and their accuracy in detecting endoscopic activity was determined. Eighty patients were included (mean age 46 years, 53% Crohn's disease), 70% with endoscopic activity. Among Crohn's disease patients, 24% had mild endoscopic activity, 12% moderate activity and 39% severe activity. Among ulcerative colitis patients, 35% had an endoscopic Mayo score of 0-1 points, 30% 2 points and 35% 3 points. None of the biomarkers included had a good correlation with endoscopic activity (Area Under the ROC curve [AUC]<0.70) in ulcerative colitis. ORM, fibrinogen and platelets had the best accuracy to detect endoscopic activity in Crohn's disease (AUC: 0.80-0.085). A sub-analysis in postoperative Crohn's disease patients found no correlation between endoscopic recurrence and biomarkers (AUC<0.70). Serological biomarkers, including CRP, have low accuracy to detect endoscopic activity in ulcerative colitis and postoperative Crohn's disease. ORM, fibrinogen and platelets have the best accuracy to detect endoscopic activity in Crohn's disease. Copyright © 2016 Elsevier España, S.L.U. y AEEH y AEG. All rights reserved.

  5. Kawasaki disease and the emerging coronary artery disease epidemic in India: is there a correlation?

    PubMed

    Singh, Surjit; Aulakh, Roosy; Kawasaki, Tomisaku

    2014-04-01

    Although Kawasaki disease (KD) is now being increasingly reported from India, the vast majority of children with KD are still not being diagnosed and treated. A recent study from Chandigarh has shown that the incidence of KD is at least 4.54/100,000 children below 15 y of age. Extrapolations of this figure suggest that a minimum of 17,417 new cases of KD would be occurring every year in our country. A significant proportion of these children may develop coronary artery abnormalities. These children would then be at risk of developing myocardial ischemia as young adults. It is authors' contention that (undiagnosed) KD in childhood may be contributing to the growing pool of coronary artery disease (CAD) in India. Similarly, a missed diagnosis of KD in childhood should be considered as a possibility while evaluating adults with CAD, especially when there are no overt risk factors and no family history of the disease.

  6. Decision-making performance in Parkinson's disease correlates with lateral orbitofrontal volume.

    PubMed

    Kobayakawa, Mutsutaka; Tsuruya, Natsuko; Kawamura, Mitsuru

    2017-01-15

    Patients with Parkinson's disease (PD) exhibit poor decision-making, and the underlying neural correlates are unclear. We used voxel-based morphometry with Diffeomorphic Anatomical Registration through Exponentiated Lie algebra to examine this issue. The decision-making abilities of 20 patients with PD and 37 healthy controls (HCs) were measured with a computerized Iowa Gambling Task (IGT). We assessed the local gray matter volumes of the patients and HCs and their correlations with decision-making performance, disease duration, disease severity, and anti-Parkinsonism medication dose. Compared with the HCs, the patients with PD exhibited poor IGT performances. The gray matter volumes in the medial orbitofrontal cortex, left inferior temporal cortex, and right middle frontal gyrus were decreased in the patients. Results in the regression analysis showed that lateral orbitofrontal volume correlated with performance in the IGT in PD. Regions that correlated with disease duration, severity, and medication dose did not overlap with orbitofrontal regions. Our results indicate that the lateral and medial orbitofrontal cortex are related to decision-making in PD patients. Since the medial orbitofrontal cortex is shown to be involved in monitoring reward, reward monitoring seems to be impaired as a whole in PD patients. Meanwhile, the lateral region is related to evaluation of punishment, which is considered to have an influence on individual differences in decision-making performance in PD patients. Copyright © 2016 Elsevier B.V. All rights reserved.

  7. Correlation between calcium and phosphate levels to calculus accumulation on coronary heart disease patients

    NASA Astrophysics Data System (ADS)

    Cahaya, Cindy; Masulili, Sri Lelyati C.; Lessang, Robert; Radi, Basuni

    2017-02-01

    Coronary Artery Disease (CAD) or Coronary Heart Disease (CHD) is a disease that happened because of blood flow being blocked by atherosclerosis. Atherosclerosis is a process of hardening of the arteries which characterized by thickening and loss of elasticity of the intimal layer of vascular wall, by lipid deposit. Periodontitis is a chronic multifactorial inflammatory disease caused by microorganism and characterized by progressive destruction of the tooth supporting apparatus leading to tooth loss. Many studies use saliva as a valuable source for clinically information, as an asset for early diagnosis, prognostic and reviewer for pascatherapy status. Dental calculus had happened as a consequence of saliva supersaturation by calcium and phosphate. Salivary flow rate and its composition influence the formation of calculus. Increasing salivary calcium levels is characteristic of periodontitis patients. An important hipotesis in Cardiology is chronic infections contribute in atherosclerosis. Objective: To analyse the correlation between calcium and phosphate levels in saliva to calculus accumulation on CHD patients. Result: Correlation analysis between salivary calcium levels with calculus accumulation in patients with CHD and non-CHD showed no significant p value, p=0.59 and p=0.518. Correlation analysis between salivary phosphate levels and calculus accumulation showed no significant p value, p=0.836 for CHD patients and p=0.484 for non-CHD patients. Conclusion: There are no correlation between calcium levels and phosphate levels with calculus accumulation in CHD patients. Further research need to be done.

  8. Correlation between PABPN1 genotype and disease severity in oculopharyngeal muscular dystrophy

    PubMed Central

    Trollet, Capucine; Stojkovic, Tanya; de Becdelievre, Alix; Perie, Sophie; Pouget, Jean; Eymard, Bruno

    2017-01-01

    Objective: Oculopharyngeal muscular dystrophy (OPMD) is an autosomal dominant adult-onset disease characterized by progressive ptosis, dysphagia, and proximal limb weakness. The genetic cause is an expanded (GCN)n mutation in the PABPN1 gene encoding for the polyadenylate-binding protein nuclear 1. We hypothesized a potential correlation between the size of the (GCN)n expansion and the severity of the phenotype. To do this, we characterized the distribution of the genotypes as well as their correlation with age at diagnosis and phenotypical features in a large cohort of heterozygous and homozygous patients with OPMD in France with a confirmed molecular diagnosis of PABPN1. Methods: We explored 354 unrelated index cases recruited between 1999 and 2014 in several neuromuscular centers in France. Results: This cohort allowed us to characterize the frequency of mutated alleles in the French population and to demonstrate a statistical correlation between the size of the expansion and the mean age at diagnosis. We also confirmed that homozygous patients present with a more severe disease. Conclusions: It has been difficult to establish phenotype–genotype correlations because of the rare nature of this disease. Our work demonstrates that patients with OPMD with longer PABPN1 expansion are on average diagnosed at an earlier age than patients with a shorter expansion, confirming that polyalanine expansion size plays a role in OPMD, with an effect on disease severity and progression. PMID:28011929

  9. Prediction of Low versus High Recurrence Scores in Estrogen Receptor-Positive, Lymph Node-Negative Invasive Breast Cancer on the Basis of Radiologic-Pathologic Features: Comparison with Oncotype DX Test Recurrence Scores.

    PubMed

    Dialani, Vandana; Gaur, Shantanu; Mehta, Tejas S; Venkataraman, Shambhavi; Fein-Zachary, Valerie; Phillips, Jordana; Brook, Alexander; Slanetz, Priscilla J

    2016-08-01

    Purpose To review mammographic, ultrasonographic (US), and magnetic resonance (MR) imaging features and pathologic characteristics of estrogen receptor (ER)-positive, lymph node-negative invasive breast cancer and to determine the relationship of these characteristics to Oncotype DX (Genomic Health, Redwood City, Calif) test recurrence scores (ODRS) for breast cancer recurrence. Materials and Methods This institutional review board-approved retrospective study was performed in a single large academic medical center. The study population included patients with ER-positive, lymph node-negative invasive breast cancer who underwent genomic testing from January 1, 2009, to December 31, 2013. Imaging features of the tumor were classified according to the Breast Imaging Reporting and Data System lexicon by breast imagers who were blinded to the ODRS. Mammography was performed in 86% of patients, US was performed in 84%, and MR imaging was performed in 33%, including morphologic and kinetic evaluation. Images from each imaging modality were evaluated. Each imaging finding, progesterone receptor (PR) and human epidermal growth factor receptor 2 (HER2) status, and tumor grade were then individually correlated with ODRS. Analysis of variance was used to determine differences for each imaging feature. Regression analysis was used to calculate prediction of recurrence on the basis of imaging features combined with histopathologic features. Results The 319 patients had a mean age ± standard deviation of 55 years ± 8.7 (range, 31-82 years). Imaging features with a positive correlation with ODRS included a well-circumscribed oval mass (P = .024) at mammography, vascularity (P = .047) and posterior enhancement (P = .004) at US, and lobulated mass (P = .002) at MR imaging. Recurrence scores were predicted by using these features in combination with PR and HER2 status and tumor grade by using the threshold of more than 30 as a high recurrence score. With a regression tree, there

  10. Correlation between erythrocyte sedimentation rate and C-reactive protein level in patients with rheumatic diseases

    PubMed Central

    Kotulska, Anna; Kopeć-Mędrek, Magdalena; Grosicka, Anida; Kubicka, Monika

    2015-01-01

    Objectives Erythrocyte sedimentation rate (ESR) and serum level of C-reactive protein (CRP) are the acute phase reactants most commonly determined in patients with rheumatic diseases. The indices are affected by different factors, but both of them are applied for evaluation of the disease activity in patients with inflammatory disorders of the musculoskeletal system. Material and methods The authors compared the results of ESR and CRP, which were carried out during routine diagnosis in 200 patients admitted to the Department of Rheumatology. Results A significant correlation between ESR and CRP was found (ESR after 1 h/CRP: correlation coefficient 0.6944, ESR after 2 h/CRP: correlation coefficient 0.6126). There was no difference in ESR or CRP between male and female patients, and patients older than 40 years had higher ESR and CRP. Conclusions The obtained results support the usefulness of both indices in the clinical practice of rheumatologists. PMID:27407254

  11. Surface EMG activity during REM sleep in Parkinson's disease correlates with disease severity.

    PubMed

    Chahine, Lama M; Kauta, Shilpa R; Daley, Joseph T; Cantor, Charles R; Dahodwala, Nabila

    2014-07-01

    Over 40% of individuals with Parkinson's disease (PD) have rapid eye movement sleep behavior disorder (RBD). This is associated with excessive sustained (tonic) or intermittent (phasic) muscle activity instead of the muscle atonia normally seen during REM sleep. We examined characteristics of manually-quantitated surface EMG activity in PD to ascertain whether the extent of muscle activity during REM sleep is associated with specific clinical features and measures of disease severity. In a convenience sample of outpatients with idiopathic PD, REM sleep behavior disorder was diagnosed based on clinical history and polysomnogram, and severity was measured using the RBD sleep questionnaire. Surface EMG activity in the mentalis, extensor muscle group of the forearms, and anterior tibialis was manually quantitated. Percentage of REM time with excessive tonic or phasic muscle activity was calculated and compared across PD and RBD characteristics. Among 65 patients, 31 had confirmed RBD. In univariate analyses, higher amounts of surface EMG activity were associated with longer PD disease duration (srho = 0.34; p = 0.006) and greater disease severity (p < 0.001). In a multivariate regression model, surface EMG activity was significantly associated with RBD severity (p < 0.001) after adjustment for age, PD disease duration, PD severity and co-morbid sleep abnormalities. Surface EMG activity during REM sleep was associated with severity of both PD and RBD. This measure may be useful as a PD biomarker and, if confirmed, may aid in determining which PD patients warrant treatment for their dream enactment to reduce risk of injury. Copyright © 2014 Elsevier Ltd. All rights reserved.

  12. Visceral Adipose Tissue in Patients with Crohn's Disease Correlates with Disease Activity, Inflammatory Markers, and Outcome.

    PubMed

    Büning, Carsten; von Kraft, Christian; Hermsdorf, Mario; Gentz, Enno; Wirth, Eva K; Valentini, Luzia; Haas, Verena

    2015-11-01

    Visceral adipose tissue (VAT) could affect Crohn's disease (CD); however, no prospective clinical studies have explored the issue. We measured VAT with magnetic resonance imaging and total fat mass (FM) with air-displacement plethysmography in 31 women with CD in remission and 19 matched control women. We assessed the VAT/FM ratio as index of VAT accumulation, measured cytokines, and monitored clinical features (duration of remission, disease behavior, and outcome) in patients with CD retrospectively and prospectively. We also tested whether ultrasound could provide a surrogate marker of VAT in patients with CD. Patients with CD had higher percentage of FM (37 ± 10% versus 31 ± 10%, P = 0.03), VAT (1885 ± 1403 mL versus 941 ± 988 mL, P = 0.02), and VAT/FM ratio (65 ± 24 mL/kg versus 37 ± 25 mL/kg, P = 0.004) than control women. In patients with CD, VAT/FM ratio was associated with leptin (P = 0.009) and interleukin 6 (P = 0.032) concentrations, and higher in short-term than in long-term remission (72.6 ± 27.1 mL/kg versus 54.8 ± 16.1 mL/kg, P = 0.079). Patients with CD with stricturing/fistulizing disease had a higher VAT/FM ratio than patients with nonstricturing/nonfistulizing behavior (79 ± 0.15 mL/kg versus 63 ± 28 mL/kg, P = 0.067). A higher baseline VAT/FM ratio was associated with an increased disease activity at follow-up (P = 0.029). The ultrasound-determined thickness between the abdominal wall and the aorta was strongly associated with VAT as measured by magnetic resonance imaging (P < 0.001). VAT accumulation could be a prospective risk factor for increased disease activity in CD.

  13. Synchrotron radiation analysis of possible correlations between metal status in human cementum and periodontal disease

    SciTech Connect

    Martin, R.R.; Naftel, S.J.; Nelson, A.J.; Edwards, M.; Mithoowani, H.; Stakiw, J.

    2010-03-16

    Periodontitis is a serious disease that affects up to 50% of an adult population. It is a chronic condition involving inflammation of the periodontal ligament and associated tissues leading to eventual tooth loss. Some evidence suggests that trace metals, especially zinc and copper, may be involved in the onset and severity of periodontitis. Thus we have used synchrotron X-ray fluorescence imaging on cross sections of diseased and healthy teeth using a microbeam to explore the distribution of trace metals in cementum and adhering plaque. The comparison between diseased and healthy teeth indicates that there are elevated levels of zinc, copper and nickel in diseased teeth as opposed to healthy teeth. This preliminary correlation between elevated levels of trace metals in the cementum and plaque of diseased teeth suggests that metals may play a role in the progress of periodontitis.

  14. Correlation between hippocampal volumes and medial temporal lobe atrophy in patients with Alzheimer's disease

    PubMed Central

    Dhikav, Vikas; Duraiswamy, Sharmila; Anand, Kuljeet Singh

    2017-01-01

    Introduction: Hippocampus undergoes atrophy in patients with Alzheimer's disease (AD). Calculation of hippocampal volumes can be done by a variety of methods using T1-weighted images of magnetic resonance imaging (MRI) of the brain. Medial temporal lobes atrophy (MTL) can be rated visually using T1-weighted MRI brain images. The present study was done to see if any correlation existed between hippocampal volumes and visual rating scores of the MTL using Scheltens Visual Rating Method. Materials and Methods: We screened 84 subjects presented to the Department of Neurology of a Tertiary Care Hospital and enrolled forty subjects meeting the National Institute of Neurological and Communicative Disorders and Stroke, AD related Disease Association criteria. Selected patients underwent MRI brain and T1-weighted images in a plane perpendicular to long axis of hippocampus were obtained. Hippocampal volumes were calculated manually using a standard protocol. The calculated hippocampal volumes were correlated with Scheltens Visual Rating Method for Rating MTL. A total of 32 cognitively normal age-matched subjects were selected to see the same correlation in the healthy subjects as well. Sensitivity and specificity of both methods was calculated and compared. Results: There was an insignificant correlation between the hippocampal volumes and MTL rating scores in cognitively normal elderly (n = 32; Pearson Correlation coefficient = 0.16, P > 0.05). In the AD Group, there was a moderately strong correlation between measured hippocampal volumes and MTL Rating (Pearson's correlation coefficient = −0.54; P < 0.05. There was a moderately strong correlation between hippocampal volume and Mini-Mental Status Examination in the AD group. Manual delineation was superior compared to the visual method (P < 0.05). Conclusions: Good correlation was present between manual hippocampal volume measurements and MTL scores. Sensitivity and specificity of manual measurement of hippocampus was

  15. Correlation between hippocampal volumes and medial temporal lobe atrophy in patients with Alzheimer's disease.

    PubMed

    Dhikav, Vikas; Duraiswamy, Sharmila; Anand, Kuljeet Singh

    2017-01-01

    Hippocampus undergoes atrophy in patients with Alzheimer's disease (AD). Calculation of hippocampal volumes can be done by a variety of methods using T1-weighted images of magnetic resonance imaging (MRI) of the brain. Medial temporal lobes atrophy (MTL) can be rated visually using T1-weighted MRI brain images. The present study was done to see if any correlation existed between hippocampal volumes and visual rating scores of the MTL using Scheltens Visual Rating Method. We screened 84 subjects presented to the Department of Neurology of a Tertiary Care Hospital and enrolled forty subjects meeting the National Institute of Neurological and Communicative Disorders and Stroke, AD related Disease Association criteria. Selected patients underwent MRI brain and T1-weighted images in a plane perpendicular to long axis of hippocampus were obtained. Hippocampal volumes were calculated manually using a standard protocol. The calculated hippocampal volumes were correlated with Scheltens Visual Rating Method for Rating MTL. A total of 32 cognitively normal age-matched subjects were selected to see the same correlation in the healthy subjects as well. Sensitivity and specificity of both methods was calculated and compared. There was an insignificant correlation between the hippocampal volumes and MTL rating scores in cognitively normal elderly (n = 32; Pearson Correlation coefficient = 0.16, P > 0.05). In the AD Group, there was a moderately strong correlation between measured hippocampal volumes and MTL Rating (Pearson's correlation coefficient = -0.54; P < 0.05. There was a moderately strong correlation between hippocampal volume and Mini-Mental Status Examination in the AD group. Manual delineation was superior compared to the visual method (P < 0.05). Good correlation was present between manual hippocampal volume measurements and MTL scores. Sensitivity and specificity of manual measurement of hippocampus was higher compared to visual rating scores for MTL in patients with

  16. CSF tau markers are correlated with hippocampal volume in Alzheimer's disease.

    PubMed

    de Souza, Leonardo C; Chupin, Marie; Lamari, Foudil; Jardel, Claude; Leclercq, Delphine; Colliot, Olivier; Lehéricy, Stéphane; Dubois, Bruno; Sarazin, Marie

    2012-07-01

    Hippocampal atrophy as assessed by magnetic resonance imaging (MRI) and abnormal cerebrospinal fluid (CSF) biomarkers are supportive features for the diagnosis of Alzheimer's disease (AD) and are assumed to be indirect pathological markers of the disease. In AD patients, antemortem MRI hippocampal volumes (HVs) correlate with the density of neurofibrillary tangles (but not with senile plaques) at autopsy suggesting that HVs may better correlate with CSF tau and hyperphosphorylated tau (P-tau) levels than CSF amyloid beta protein (Aβ)(42) level. Here, we tested this hypothesis in a well-defined AD group. Patients were selected according to the New Research Criteria for AD, including specific episodic memory deficit and CSF AD profile (defined as abnormal ratio of Aβ(42):tau). MRI was performed within 6 months of lumbar puncture. HVs were obtained using automated segmentation software. Thirty-six patients were included. Left HV correlated with CSF tau (R = -0.53) and P-tau (R = -0.56) levels. Mean HVs correlated with the CSF P-tau level (R = -0.52). No correlation was found between any brain measurement and CSF Aβ(42) level. The CSF tau and P-tau levels, but not the CSF Aβ(42) level, correlated with HV, suggesting that CSF tau markers reflect the neuronal loss associated with the physiopathological process of AD.

  17. Correlation of Alzheimer Disease Neuropathologic Changes With Cognitive Status: A Review of the Literature

    PubMed Central

    Nelson, Peter T.; Alafuzoff, Irina; Bigio, Eileen H.; Bouras, Constantin; Braak, Heiko; Cairns, Nigel J.; Castellani, Rudolph J.; Crain, Barbara J.; Davies, Peter; Del Tredici, Kelly; Duyckaerts, Charles; Frosch, Matthew P.; Haroutunian, Vahram; Hof, Patrick R.; Hulette, Christine M.; Hyman, Bradley T.; Iwatsubo, Takeshi; Jellinger, Kurt A.; Jicha, Gregory A.; Kövari, Enikö; Kukull, Walter A.; Leverenz, James B.; Love, Seth; Mackenzie, Ian R.; Mann, David M.; Masliah, Eliezer; McKee, Ann C.; Montine, Thomas J.; Morris, John C.; Schneider, Julie A.; Sonnen, Joshua A.; Thal, Dietmar R.; Trojanowski, John Q.; Troncoso, Juan C.; Wisniewski, Thomas; Woltjer, Randall L.; Beach, Thomas G.

    2013-01-01

    Clinicopathologic correlation studies are critically important for the field of Alzheimer disease (AD) research. Studies on human subjects with autopsy confirmation entail numerous potential biases that affect both their general applicability and the validity of the correlations. Many sources of data variability can weaken the apparent correlation between cognitive status and AD neuropathologic changes. Indeed, most persons in advanced old age have significant non-AD brain lesions that may alter cognition independently of AD. Worldwide research efforts have evaluated thousands of human subjects to assess the causes of cognitive impairment in the elderly, and these studies have been interpreted in different ways. We review the literature focusing on the correlation of AD neuropathologic changes (i.e. β-amyloid plaques and neurofibrillary tangles) with cognitive impairment. We discuss the various patterns of brain changes that have been observed in elderly individuals to provide a perspective for understanding AD clinicopathologic correlation and conclude that evidence from many independent research centers strongly supports the existence of a specific disease, as defined by the presence of Aβ plaques and neurofibrillary tangles. Although Aβ plaques may play a key role in AD pathogenesis, the severity of cognitive impairment correlates best with the burden of neocortical neurofibrillary tangles. PMID:22487856

  18. Correlation of Objective Audiometric and Caloric Function in Ménière's Disease.

    PubMed

    McMullen, Kyle P; Lin, Chen; Harris, Michael S; Adunka, Oliver F

    2017-02-01

    Objective Ménière's disease affects the vestibular and audiologic systems; however, little is known about the relationship between audiometric and caloric function with increasing duration of disease. We employed a novel methodology to understand the longitudinal correlation between audiometric and caloric function in Ménière's patients. Study Design Case series with chart review. Setting Neuro-otologic tertiary care practice. Subjects and Methods Charts of 19 patients with unilateral Ménière's disease, as classified by the 1995 American Academy of Otolaryngology-Head and Neck Foundation criteria, were examined. We included patients with ≥2 videonystagmograms and audiograms. We excluded those with bilateral Ménière's, prior audiovestibular destruction, or symptoms suggesting concomitant vestibular pathology. Spearman's rank correlation of audiometric status (pure tone average [PTA], low PTA, and word recognition score [WRS]) and vestibular function (bithermal calorics) was performed. The study was Institutional Review Board approved (protocol 2015H0266). Results A total of 112 audiograms and 42 videonystagmographies were performed. There was a decline in affected ear hearing PTA and WRS with duration of disease ( r = 0.602, P < .001, and r = -0.573, P < .001, respectively). Similarly, there was a decline in vestibular function with increasing duration of disease ( r = 0.709, P < .001). There were moderate correlations between vestibular weakness and PTA, low PTA, and WRS ( r = 0.464, P = .002; r = 0.498, P = .001; and r = -0.518, P = .001, respectively). Conclusions There is a correlation between decline in objective hearing and horizontal semicircular canal function with time. As expected, this correlation is not 1:1, indicating differential involvement of both systems. Understanding this relationship may assist in counseling patients with regard to prognosis, natural history, and therapeutic interventions.

  19. Genome-wide analysis of genetic correlation in dementia with Lewy bodies, Parkinson's and Alzheimer's diseases.

    PubMed

    Guerreiro, Rita; Escott-Price, Valentina; Darwent, Lee; Parkkinen, Laura; Ansorge, Olaf; Hernandez, Dena G; Nalls, Michael A; Clark, Lorraine; Honig, Lawrence; Marder, Karen; van der Flier, Wiesje; Holstege, Henne; Louwersheimer, Eva; Lemstra, Afina; Scheltens, Philip; Rogaeva, Ekaterina; St George-Hyslop, Peter; Londos, Elisabet; Zetterberg, Henrik; Ortega-Cubero, Sara; Pastor, Pau; Ferman, Tanis J; Graff-Radford, Neill R; Ross, Owen A; Barber, Imelda; Braae, Anne; Brown, Kristelle; Morgan, Kevin; Maetzler, Walter; Berg, Daniela; Troakes, Claire; Al-Sarraj, Safa; Lashley, Tammaryn; Compta, Yaroslau; Revesz, Tamas; Lees, Andrew; Cairns, Nigel J; Halliday, Glenda M; Mann, David; Pickering-Brown, Stuart; Powell, John; Lunnon, Katie; Lupton, Michelle K; Dickson, Dennis; Hardy, John; Singleton, Andrew; Bras, Jose

    2016-02-01

    The similarities between dementia with Lewy bodies (DLB) and both Parkinson's disease (PD) and Alzheimer's disease (AD) are many and range from clinical presentation, to neuropathological characteristics, to more recently identified, genetic determinants of risk. Because of these overlapping features, diagnosing DLB is challenging and has clinical implications since some therapeutic agents that are applicable in other diseases have adverse effects in DLB. Having shown that DLB shares some genetic risk with PD and AD, we have now quantified the amount of sharing through the application of genetic correlation estimates, and show that, from a purely genetic perspective, and excluding the strong association at the APOE locus, DLB is equally correlated to AD and PD.

  20. Genome-wide analysis of genetic correlation in dementia with Lewy bodies, Parkinson's and Alzheimer's diseases

    PubMed Central

    Guerreiro, Rita; Escott-Price, Valentina; Darwent, Lee; Parkkinen, Laura; Ansorge, Olaf; Hernandez, Dena G.; Nalls, Michael A.; Clark, Lorraine; Honig, Lawrence; Marder, Karen; van der Flier, Wiesje; Holstege, Henne; Louwersheimer, Eva; Lemstra, Afina; Scheltens, Philip; Rogaeva, Ekaterina; St George-Hyslop, Peter; Londos, Elisabet; Zetterberg, Henrik; Ortega-Cubero, Sara; Pastor, Pau; Ferman, Tanis J.; Graff-Radford, Neill R.; Ross, Owen A.; Barber, Imelda; Braae, Anne; Brown, Kristelle; Morgan, Kevin; Maetzler, Walter; Berg, Daniela; Troakes, Claire; Al-Sarraj, Safa; Lashley, Tammaryn; Compta, Yaroslau; Revesz, Tamas; Lees, Andrew; Cairns, Nigel J.; Halliday, Glenda M.; Mann, David; Pickering-Brown, Stuart; Powell, John; Lunnon, Katie; Lupton, Michelle K.; Dickson, Dennis; Hardy, John; Singleton, Andrew; Bras, Jose

    2016-01-01

    The similarities between dementia with Lewy bodies (DLB) and both Parkinson's disease (PD) and Alzheimer's disease (AD) are many and range from clinical presentation, to neuropathological characteristics, to more recently identified, genetic determinants of risk. Because of these overlapping features, diagnosing DLB is challenging and has clinical implications since some therapeutic agents that are applicable in other diseases have adverse effects in DLB. Having shown that DLB shares some genetic risk with PD and AD, we have now quantified the amount of sharing through the application of genetic correlation estimates, and show that, from a purely genetic perspective, and excluding the strong association at the APOE locus, DLB is equally correlated to AD and PD. PMID:26643944

  1. Structural Imaging Changes and Behavioral Correlates in Patients with Crohn’s Disease in Remission

    PubMed Central

    Nair, Veena A.; Beniwal-Patel, Poonam; Mbah, Ifeanyi; Young, Brittany M.; Prabhakaran, Vivek; Saha, Sumona

    2016-01-01

    Background: Crohn’s disease (CD) is a subtype of inflammatory bowel disease caused by immune-mediated inflammation in the gastrointestinal tract. The extent of morphologic brain alterations and their associated cognitive and affective impairments remain poorly characterized. Aims: We used magnetic resonance imaging to identify structural brain differences between patients with Crohn’s disease in remission compared to age-matched healthy controls and evaluated for structural-behavioral correlates. Methods: Nineteen patients and 20 healthy, age-matched controls were recruited in the study. Group differences in brain morphometric measures and correlations between brain measures and performance on a cognitive task, the verbal fluency (VF) task, were examined. Correlations between brain measures and cognitive measures as well as self-reported measures of depression, personality, and affective scales were examined. Results: Patients showed significant cortical thickening in the left superior frontal region compared to controls. Significant group differences were observed in sub-cortical volume measures in both hemispheres. Investigation of brain-behavior correlations revealed significant group differences in the correlation between cortical surface area and VF performance, although behavioral performance was equivalent between the two groups. The left middle temporal surface area was a significant predictor of VF performance with controls showing a significant positive correlation between these measures, and patients showing the opposite effect. Conclusion: Our results indicate key differences in structural brain measures in patients with CD compared to controls. Additionally, correlation between brain measures and behavioral responses suggest there may be a neural basis to the alterations in patients’ cognitive and affective responses. PMID:27695405

  2. Polygenic risk of Parkinson disease is correlated with disease age at onset

    PubMed Central

    Escott‐Price, Valentina; Nalls, Mike A.; Morris, Huw R.; Lubbe, Steven; Brice, Alexis; Gasser, Thomas; Heutink, Peter; Wood, Nicholas W.; Hardy, John; Singleton, Andrew B.

    2015-01-01

    Objective We have investigated the polygenic architecture of Parkinson disease (PD) and have also explored the potential relationship between an individual's polygenic risk score and their disease age at onset. Methods This study used genotypic data from 4,294 cases and 10,340 controls obtained from the meta‐analysis of PD genome‐wide association studies. Polygenic score analysis was performed as previously described by the International Schizophrenia Consortium, testing whether the polygenic score alleles identified in 1 association study were significantly enriched in the cases relative to the controls of 3 independent studies. Linear regression was used to investigate the relationship between an individual's polygenic score for PD risk alleles and disease age at onset. Results Our polygenic score analysis has identified significant evidence for a polygenic component enriched in the cases of each of 3 independent PD genome‐wide association cohorts (minimum p = 3.76 × 10−6). Further analysis identified compelling evidence that the average polygenic score in patients with an early disease age at onset was significantly higher than in those with a late age at onset (p = 0.00014). Interpretation This provides strong support for a large polygenic contribution to the overall heritable risk of PD and also suggests that early onset forms of the illness are not exclusively caused by highly penetrant Mendelian mutations, but can also be contributed to by an accumulation of common polygenic alleles with relatively low effect sizes. Ann Neurol 2015;77:582–591 PMID:25773351

  3. Seasonal Distribution and Climatic Correlates of Dengue Disease in Dhaka, Bangladesh.

    PubMed

    Morales, Ivonne; Salje, Henrik; Saha, Samir; Gurley, Emily S

    2016-06-01

    Dengue has been regularly reported in Dhaka, Bangladesh, since a large outbreak in 2000. However, to date, we have limited information on the seasonal distribution of dengue disease and how case distribution correlates with climate. Here, we analyzed dengue cases detected at a private diagnostic facility in Dhaka during 2010-2014. We calculated Pearson cross-correlation coefficients to examine the relationship between the timing of cases and both rainfall and temperature. There were 2,334 cases diagnosed during the study period with 76% over the age of 15 years. Cases were reported in every month of the study; however, 90% of cases occurred between June and November. Increases in rainfall were correlated with increases in cases 2 months later (correlation of 0.7). The large proportion of adult cases is consistent with substantial population susceptibility and suggests Dhaka remains at risk for outbreaks. Although cases occurred year-round, public health preparedness should be focused during peak months.

  4. Localization of coronary artery disease with exercise electrocardiography: correlation with thallium-201 myocardial perfusion scanning

    SciTech Connect

    Dunn, R.F.; Freedman, B.; Bailey, I.K.; Uren, R.F.; Kelly, D.T.

    1981-11-01

    In 61 patients with single vessel coronary artery disease (70 percent or greater obstruction of luminal diameter in only one vessel) and no previous myocardial infarction, the sites of ischemic changes on 12 lead exercise electrocardiography and on thallium-201 myocardial perfusion scanning were related to the obstructed coronary artery. The site of exercise-induced S-T segment depression did not identify which coronary artery was obstructed. In the 37 patients with left anterior descending coronary artery disease S-T depression was most often seen in the inferior leads and leads V4 to V6, and in the 18 patients with right coronary artery disease and in the 6 patients with left circumflex artery disease S-T depression was most often seen in leads V5 and V6. Although S-T segment elevation was uncommon in most leads, it occurred in lead V1 or a VL, or both, in 51 percent of the patients with left anterior descending coronary artery disease. A reversible anterior defect on exercise thallium scanning correlated with left anterior descending coronary artery disease (probability (p) less than 0.0001) and a reversible inferior thallium defect correlated with right coronary or left circumflex artery disease (p less than 0.0001). In patients with single vessel disease, the site of S-T segment depression does not identify the obstructed coronary artery; S-T segment elevation in lead V1 or aVL, or both, identifies left anterior descending coronary artery disease; and the site of reversible perfusion defect on thallium scanning identifies the site of myocardial ischemia and the obstructed coronary artery.

  5. Dengue in Vietnamese infants--results of infection-enhancement assays correlate with age-related disease epidemiology, and cellular immune responses correlate with disease severity.

    PubMed

    Chau, Tran Nguyen Bich; Quyen, Nguyen Than Ha; Thuy, Tran Thi; Tuan, Nguyen Minh; Hoang, Dang Minh; Dung, Nguyen Thi Phuong; Lien, Le Bich; Quy, Nguyen Thien; Hieu, Nguyen Trong; Hieu, Lu Thi Minh; Hien, Tran Tinh; Hung, Nguyen Thanh; Farrar, Jeremy; Simmons, Cameron P

    2008-08-15

    The pathogenesis of severe dengue is not well understood. Maternally derived subneutralizing levels of dengue virus-reactive IgG are postulated to be a critical risk factor for severe dengue during infancy. In this study, we found that, in healthy Vietnamese infants, there was a strong temporal association between the Fc-dependent, dengue virus infection-enhancing activity of neat plasma and the age-related epidemiology of severe dengue. We then postulated that disease severity in infants with primary infections would be associated with a robust immune response, possibly as a consequence of higher viral burdens in vivo. Accordingly, in infants hospitalized with acute dengue, the activation phenotype of peripheral-blood NK cells and CD8+ and CD4+ T cells correlated with overall disease severity, but HLA-A*1101-restricted NS3(133-142)-specific CD8+ T cells were not measurable until early convalescence. Plasma levels of cytokines/chemokines were generally higher in infants with dengue shock syndrome. Collectively, these data support a model of dengue pathogenesis in infants whereby antibody-dependent enhancement of infection explains the age-related case epidemiology and could account for antigen-driven immune activation and its association with disease severity. These results also highlight potential risks in the use of live attenuated dengue vaccines in infants in countries where dengue is endemic.

  6. Neuropathologic correlates of trial-related instruments for Alzheimer’s disease

    PubMed Central

    Cummings, Jeffrey L; Ringman, John; Vinters, Harry V

    2014-01-01

    To advance disease-modifying therapies, it is critical to understand the relationship between the neuropathological changes of Alzheimer’s Disease (AD) and the clinical measures used in therapeutic trials. We reviewed neuropathologically proven cases of AD from the National Alzheimer’s Coordinating Center (NACC) and examined correlations between neuropathological changes and clinical-trial related instruments collected as part of the Uniform Dataset (UDS). We explored the relationships between neurofibrillary tangles, neuritic plaques, and total pathology burden with immediate and delayed recall, Clinical Dementia Rating-Sum of Boxes, Functional Activity Questionnaire, Neuropsychiatric Inventory Questionnaire, and Mini-Mental State Examination scores. 169 patients in NACC database had appropriate neuropathological and clinical data. All instruments correlated highly with neuritic plaques, Braak staging, and total pathology. Correlation coefficients for the relationships were relatively modest, suggesting that the pathologic burden examined accounts for between 13 and 40% of the variance of each of the instruments assessed. We conclude that there is a strong correlation between clinical trial-related measures and neuropathology identified at autopsy in AD. The amount of variance explained by the pathology is limited and other factors, both disease- and measurement-related, contribute to the variability observed in clinical measurements. PMID:24754002

  7. Functional network connectivity analysis based on partial correlation in Alzheimer's disease

    NASA Astrophysics Data System (ADS)

    Zhang, Nan; Guan, Xiaoting; Zhang, Yumei; Li, Jingjing; Chen, Hongyan; Chen, Kewei; Fleisher, Adam; Yao, Li; Wu, Xia

    2009-02-01

    Functional network connectivity (FNC) measures the temporal dependency among the time courses of functional networks. However, the marginal correlation between two networks used in the classic FNC analysis approach doesn't separate the FNC from the direct/indirect effects of other networks. In this study, we proposed an alternative approach based on partial correlation to evaluate the FNC, since partial correlation based FNC can reveal the direct interaction between a pair of networks, removing dependencies or influences from others. Previous studies have demonstrated less task-specific activation and less rest-state activity in Alzheimer's disease (AD). We applied present approach to contrast FNC differences of resting state network (RSN) between AD and normal controls (NC). The fMRI data under resting condition were collected from 15 AD and 16 NC. FNC was calculated for each pair of six RSNs identified using Group ICA, thus resulting in 15 (2 out of 6) pairs for each subject. Partial correlation based FNC analysis indicated 6 pairs significant differences between groups, while marginal correlation only revealed 2 pairs (involved in the partial correlation results). Additionally, patients showed lower correlation than controls among most of the FNC differences. Our results provide new evidences for the disconnection hypothesis in AD.

  8. Disease activity in Graves' ophthalmopathy: diagnosis with orbital MR imaging and correlation with clinical score.

    PubMed

    Tortora, Fabio; Cirillo, Mario; Ferrara, Marco; Belfiore, Maria Paola; Carella, Carlo; Caranci, Ferdinando; Cirillo, Sossio

    2013-10-01

    In Graves' ophthalmopathy (GO) it is important to distinguish acute inflammation at an early stage, responsive to immunosuppressive treatment, from inactive fibrotic end stage disease, unresponsive to the same treatment. The purpose of this study was to identify the most relevant signal intensities on orbital MR imaging with contrast administration both to classify patients according to their clinical activity score (defined by a cut-off value of 3) and to make a prediction of patient's CAS. Such threshold was considered as widely used in literature. Sixteen consecutive patients with a diagnosis of GO in different phases of thyroid disease based on clinical and orbital MR imaging signs, and six normal volunteers were examined. Orbital MR imaging was performed on a 1.5 Tesla MR Unit. MR scans were assessed by an experienced neuroradiologist, blinded to the clinical examinations. We found a statistical correlation between CAS and both STIR and contrast enhanced T1-weighted sequences. There was also a statistically significant correlation between STIR and contrast-enhanced T1 images disclosing the possibility of avoiding the injection of contrast medium. Our study proved that signal intensity values on STIR sequence increase in the inflammatory oedematous phase of disease. We confirmed the correlation between signal intensities on this sequence and CAS, showing an increase in signal intensity proportional to the CAS value. So we validated MRI use to establish the activity phase of disease more sensitively than CAS alone.

  9. Fascin expression in cholesteatoma: correlation with destruction of the ossicular chain and extent of disease.

    PubMed

    Binnetoglu, A; Sari, M; Baglam, T; Erbarut Seven, I; Yumusakhuylu, A C; Topuz, M F; Batman, C

    2015-08-01

    Fascin is an actin-bundling protein found in cell membrane protrusions and increases cell motility. The expression of fascin in epithelial neoplasms has been described only recently. No data are available concerning the role of this protein in invasive cholesteatoma. Thus, we investigated the expression of fascin in cholesteatoma tissue and the relationship between fascin expression and intraoperative evaluation of the destruction of the ossicular chain and extent of disease. Cholesteatoma specimens of 28 patients and external auditory canal (EAC) skin specimens of the same patients (as the control group) were collected from mastoidectomies. Immunohistochemical technique was used to investigate the fascin expression in all cholesteatoma tissues and EAC skin specimens. Immunohistochemical staining was assessed semiquantitatively based on the thickness of epithelium. SPSS software version 16.0 (SPSS Inc., Chicago, IL, USA) was performed to statistically analyse the relationships between fascin expression and intraoperative evaluation destruction of ossicular chain and extent of the disease. Immunohistochemically, there was no or very low fascin expression observed in normal epithelial cells of EAC skin, while expressed in cholesteatoma tissue. Also, fascin expression in cholesteatoma tissues was significantly correlated with destruction of ossicular chain and extent of the disease. Fascin expression is usually found in cholesteatoma epithelium and is correlated with destruction of the ossicular chain and extent of disease. Considering all of the correlations between the clinical and histopathological findings, 'fascin immunoexpression scoring' may be used for histological grading of cholesteatoma. © 2015 John Wiley & Sons Ltd.

  10. CTX Correlation to Disease Duration and Adiponectin in Egyptian Children with T1DM

    PubMed Central

    Hashim, Amel A.; Emara, Ibrahim A.; El-Hefnawy, Mohamed H.

    2016-01-01

    Summary Background In this study, we investigated the relationship of adiponectin with bone marker changes in Egyptian children and adolescents with T1DM and the effect of disease duration on these markers, as well as the possible correlations between adiponectin and bone markers in these patients. Methods Sixty Egyptian children and adolescent patients with T1DM were studied. Serum adiponectin and collagen breakdown products (cross-linked C-terminal telopeptide of collagen type l »CTX«) were measured and compared to the results of 20 age-matched healthy controls. Results After adjustment for age, BMI, Tanner stage and gender; (total) adiponectin was significantly higher in all T1DM patients. Serum level of CTX and 25(OH)D showed a marked decrease in diabetics with disease duration > 5 years. Serum level of (total) calcium and inorganic phosphorus (Pi) did not show significant difference from control. CTX was inversely correlated to FBG and T1DM duration. Pi was inversely, while 25(OH)D was directly correlated to FBG. Total calcium showed an inverse correlation with HbA1c. FBG, TC, TAG, LDL-C were independent predictors of CTX in T1DM. Conclusions Adiponectin showed no correlation with either CTX or bone homeostatic indices. FBG, TC, TAG, LDL-C were independent predictors of CTX in T1DM. We recommend further investigation of adiponectin isoforms in a population-based study, to establish a good age- and sex-related reference.

  11. Depressive symptoms in Parkinson's disease correlate with cortical atrophy over time.

    PubMed

    Hanganu, Alexandru; Bruneau, Marie-Andrée; Degroot, Clotilde; Bedetti, Christophe; Mejia-Constain, Béatriz; Lafontaine, Anne-Louise; Chouinard, Sylvain; Monchi, Oury

    2017-02-01

    Depressive symptoms are very common in patients with Parkinson's disease (PD) and have a significant impact on the quality of life. The present study analyzed the correlations between over-time changes in depressive symptoms and gray matter parameters of cortical thickness and subcortical volumes in non-demented PD patients. A significant correlation was observed, between increased scores for depression over time and lower cortical thickness over time in the right temporo-parietal junction, right occipital medial region, right dorsolateral prefrontal cortex, right posterior cingulate region, left middle temporal as well as left supplementary motor area. Furthermore, the presence of depressive symptoms at baseline predicted increased cortical thinning over time in the left middle temporal, left anterior cingulate, right posterior cingulate and right parahippocampal cortices. Finally, a statistically significant negative correlation has been revealed between the thalamus' volume changes over time and the change in depressive symptoms scores. All other analyzed subcortical structures didn't reveal any significant correlations. These results suggest that depressive symptoms in PD patients are associated with gray matter cortical thinning and thalamus volume shrinkage over time and higher scores of depressive symptoms at baseline correlate with a higher rate of cortical thinning longitudinally. The present study highlights the importance of addressing depressive symptoms in PD patients early in the disease. Copyright © 2016 Elsevier Inc. All rights reserved.

  12. Correlation of Sleep Disturbance and Cognitive Impairment in Patients with Parkinson’s Disease

    PubMed Central

    Kim, Eun Ja; Baek, Joon Hyun; Shin, Dong Jin; Park, Hyeon-Mi; Lee, Yeong-Bae; Park, Kee-Hyung; Shin, Dong Hoon; Noh, Young; Sung, Young Hee

    2014-01-01

    Objective Cognitive impairment is a common nonmotor symptom of Parkinson’s disease (PD) and is associated with high mortality, caregiver distress, and nursing home placement. The risk factors for cognitive decline in PD patients include advanced age, longer disease duration, rapid eye movement sleep behavior disorder, hallucinations, excessive daytime sleepiness, and nontremor symptoms including bradykinesia, rigidity, postural instability, and gait disturbance. We conducted a cross-sectional study to determine which types of sleep disturbances are related to cognitive function in PD patients. Methods A total of 71 PD patients (29 males, mean age 66.46 ± 8.87 years) were recruited. All patients underwent the Mini- Mental State Examination (MMSE) and the Korean Version of the Montreal Cognitive Assessments (MoCA-K) to assess global cognitive function. Sleep disorders were evaluated with the Stanford Sleepiness Scale, Epworth Sleepiness Scale, Insomnia Severity Index (ISI), Pittsburg Sleep Quality Index, and Parkinson’s Disease Sleep Scale in Korea (PDSS). Results The ISI was correlated with the MMSE, and total PDSS scores were correlated with the MMSE and the MoCA-K. In each item of the PDSS, nocturnal restlessness, vivid dreams, hallucinations, and nocturnal motor symptoms were positively correlated with the MMSE, and nocturnal restlessness and vivid dreams were significantly related to the MoCA-K. Vivid dreams and nocturnal restlessness are considered the most powerful correlation factors with global cognitive function, because they commonly had significant correlation to cognition assessed with both the MMSE and the MoCA-K. Conclusions We found a correlation between global cognitive function and sleep disturbances, including vivid dreams and nocturnal restlessness, in PD patients. PMID:24926405

  13. Correlation of different bone markers with bone density in patients with rheumatic diseases on glucocorticoid therapy.

    PubMed

    Loddenkemper, Konstanze; Bohl, Nicole; Perka, Carsten; Burmester, Gerd-Rüdiger; Buttgereit, Frank

    2006-02-01

    Osteoporosis is a common concomitant disease in patients with rheumatic diseases on glucocorticoid (GC) therapy. Bone status is usually evaluated by determination of bone density in combination with clinical examinations and laboratory tests. However, the strength of individual biochemical bone makers in GC-induced osteoporosis has yet to be fully clarified. For this reason, different bone markers were investigated in correlation with bone density in patients with rheumatic diseases. Approximately 238 patients (212 women, 26 men) with a rheumatic disease and under GC therapy were examined consecutively for the first time with regard to bone density (BMD) and bone markers [osteocalcin, bone-specific alkaline phosphatase (precipitation method/tandem-MP ostase), crosslinks [pyridinoline (PYD), deoxypyridinoline (DPX), N-terminal telopeptide (NTX)

  14. CSF findings in adrenoleukodystrophy: correlation between measures of cytokines, IgG production, and disease severity.

    PubMed

    Phillips, J P; Lockman, L A; Shapiro, E G; Blazar, B R; Loes, D J; Moser, H W; Krivit, W

    1994-06-01

    The childhood-onset cerebral form of adrenoleukodystrophy has a devastating neurologic prognosis. Unfortunately, there is no early method of distinguishing it from the more benign forms of adrenoleukodystrophy, such as adrenomyeloneuropathy. To evaluate the manner in which this disease entity may be reflected in the cerebrospinal fluid, we studied a consecutive series of 19 patients, all with biochemically proved adrenoleukodystrophy. total protein, immunoglobulin production, cytokine levels, and cerebrospinal fluid pressure were measured. In this single sample of cerebrospinal fluid, a significant correlation existed between clinical stage of the illness and cerebrospinal fluid myelin basic protein. No correlation existed with total protein, cytokines, or measures of immunoglobulin production.

  15. Correlates of posttraumatic stress disorder in adults with congenital heart disease.

    PubMed

    Eslami, Bahareh

    2017-05-01

    The aims of this study were to compare the level of posttraumatic stress disorder between adults with and without congenital heart disease, and to examine the correlates of posttraumatic stress disorder (e.g., sociodemographics). Cross-sectional. Two university-affiliated heart hospitals in Tehran, Iran. A sample of 347 adults with congenital heart disease aged 18-64 years (52% women), and 353 adults without congenital heart disease matched by sex and age (±2 years) was recruited. The PTSD Scale: Self-report version was used to assess the diagnosis and severity of posttraumatic stress disorder. Hierarchical multivariate logistic regression analyses were performed to explore correlates of likely posttraumatic stress disorder diagnosis among each group of participants. The posttraumatic stress disorder in the patients was comparable to those of the control group, except for increased arousal (P = .027) which was scored higher among the patients. Over 52% of adults with congenital heart disease met the criteria for a likely posttraumatic stress disorder diagnosis compared with 48% of adults without congenital heart disease. The regression analyses among patients revealed that elevated depressive symptoms (OR = 1.27) and a positive history of cardiac surgery (OR = 2.02) were significantly associated with posttraumatic stress disorder. The model could explain 29% of the variance in posttraumatic stress disorder. The high and comparable prevalence of posttraumatic stress disorder among patients and nonpatients highlight the significance of the context in which adults with congenital heart disease may face other/additional stressors than disease-related ones, an issue that clinicians need also take into account. Furthermore, the association of posttraumatic stress disorder with elevated depressive symptoms warrant a comprehensive psychological assessment and management of adults with congenital heart disease, in particular among those with a history of

  16. Inflammatory Leukocyte Phenotypes Correlate with Disease Progression in Idiopathic Pulmonary Fibrosis

    PubMed Central

    Moore, Bethany B.; Fry, Chris; Zhou, Yueren; Murray, Susan; Han, MeiLan K.; Martinez, Fernando J.; Flaherty, Kevin R.

    2014-01-01

    Idiopathic pulmonary fibrosis (IPF) is characterized by progressive deposition of extracellular matrix, worsening dyspnea, and eventual mortality. Pathogenesis of IPF is poorly understood and the role inflammation and activated leukocytes play in the disease process is controversial. Previous studies demonstrated that activated leukocyte subsets characterize IPF patients. We sought to validate this observation in a well-defined cohort of 35 IPF patients and to correlate the observed leukocyte phenotypes with robust parameters of disease progression. We demonstrate that in univariate and multivariate analyses, increases in the CD14hi, CD16hi subset of monocytes measured at baseline correlated with disease progression, with a threshold value >0.5% of the total peripheral blood mononuclear cells being a significant predictor for worse outcome. In addition, several T cell subsets, including CD25 expressing CD4 cells, and CXCR3 expressing CD4 and CD8 subsets correlated with disease progression when found in increased percentages in the peripheral blood of IPF patients when sampled at baseline. Somewhat surprising in comparison to previous literature, the CD4 T cells did not appear to have lost expression of the co-stimulatory molecule, CD28, but the CD8 T cells did. Taken together, these results are consistent with the presence of an inflammatory process in IPF patients who eventually progress. However, when longitudinal measurements of these same markers were examined, there was significant heterogeneity of expression and these biomarkers did not necessarily remain elevated in IPF patients with progressive disease. We interpret this heterogeneity to suggest that IPF patients experience episodic inflammatory events that once triggered, may lead to disease progression. This longitudinal heterogeneity in biomarker analyses may explain why such markers are not consistently measured in all IPF cohorts. PMID:25580363

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

    PubMed

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

    2016-12-01

    The purpose of this study is to investigate the correlation between periodontal disease and oral cancer risk by meta-analysis. We searched the electronic databases of PubMed and Wanfang to include the articles related to periodontal disease and oral cancer risk. The association between periodontal disease and oral cancer risk was assessed by odds ratio (OR) and its corresponding 95% confidence interval (95% CI). The publication bias was evaluated by Begg's funnel plot and Egger's line regression test. All the data analysis was done by STATA12.0 software (Stata Corporation, College Station, TX, USA). Eleven case-control studies were included in our present meta-analysis. We found significant statistical heterogeneity was existed in our present meta-analysis (I2 = 99.8%, P < 0.05). Hence, the data were pooled by random effect model. The pooled results indicated a significant correlation between periodontal disease and oral cancer risk was found with OR = 3.21 and the 95% CI = 2.25-4.16 (P < 0.05). The Begg's funnel plot was obvious asymmetric indicating significant publication bias. Moreover, further Egger's line regression test also indicated significant publications (t = 3.35, P < 0.05). Our present meta-analysis indicated that periodontal disease can increase the oral cancer risk by nearly 2-fold.

  18. Operational research on the correlation between skin diseases and HIV infection in Tigray region, Ethiopia.

    PubMed

    Padovese, Valeska; Racalbuto, Vincenzo; Barnabas, Gebre Ab; Morrone, Aldo

    2015-10-01

    In Ethiopia, skin diseases are among the leading causes of outpatient attendance to primary health service. Correlation of skin diseases and HIV has long been recognized and used to guide medical management in resource-limited settings. Therefore, this study aims to assess the correlation of skin diseases and HIV infection, to estimate epidemiological distribution in the study area, and to provide health workers of skin indicators for HIV early detection. The operational research was designed as a case-control study and carried out in three intervention districts of Tigray region; baseline and final data on skin diseases and HIV were compared with those of three control districts matched for population size, density, and environmental characteristics. Health workers of intervention districts were trained on skin diseases/STIs diagnosis and treatment. Data were collected from study and control districts and then analyzed at the Italian Dermatological Centre (IDC) in Mekele. In the research period, a total of 1044 HIV positive patients were detected. Disorders of skin and mucous membranes statistically related with HIV (P < 0.05) were tongue papillary atrophy (80%), oral hairy leukoplakia (69%), herpes zoster (66%), oral candidiasis (50%), pruritic papular eruption (43%), condylomata acuminata (38%), and telogen effluvium (27%). The high frequency of oral disorders and telogen effluvium is not described in literature and may be indicative for case detection. Operational research offers significant gains on health service delivery and outcomes at relatively low cost and in a short timeframe. © 2015 The International Society of Dermatology.

  19. The Correlation of CD206, CD209, and Disease Severity in Behçet's Disease with Arthritis

    PubMed Central

    Suh, Chang-Hee; Kim, Hyoun-Ah

    2017-01-01

    The purpose of this study was to clarify the role of pattern recognition receptors in Behçet's disease (BD). The frequencies of several pattern recognition receptors (CD11b, CD11c, CD32, CD206, CD209, and dectin-1) were analyzed in patients with BD by flow cytometry, and cytokine levels, interleukin- (IL-) 18, IL-23, and IL-17A, were compared in plasma. The analysis was performed in active (n = 13) and inactive (n = 13) stages of BD patients. Rheumatoid arthritis patients (n = 19), as a disease control, and healthy control (HC) (n = 19) were enrolled. The frequencies of CD11b+ and CD32+ cells were significantly increased in active BD patients compared to HC. Disease severity score was correlated to CD11c+, CD206+, and CD209+ in whole leukocytes and CD11b+, CD11c+, CD206+, CD209+, and Dectin-1+ in granulocytes. The plasma levels of IL-17A were significantly different between HC and active BD. IL-18 showed significant difference between active and inactive BD patients. From this study, we concluded the expressions of several pattern recognition receptors were correlated to the joint symptoms of BD. PMID:28377641

  20. Cardiac Effect of Interstitial Lung Disease Correlated with Spirometry and Six Minute Walk Test

    PubMed Central

    Agrawal, Mitali Bharat

    2017-01-01

    Introduction The cardiac effect of different pulmonary functions, six minute walk distance, arterial blood gases and saturation in Interstitial Lung Disease (ILD) is not much known. So this study, a tertiary care hospital experience that entails to know the various factors in Pulmonary Hypertension (PH) mentioned above causing PH and their correlation with PH. Aim To study the correlation of PH in patients with ILD with spirometry and six minute walk test (6MWT). Materials and Methods All consecutive patients with confirmed diagnosis of ILD taken over a period of 1½year in tertiary care hospital. 6MWT and spirometry were performed as per the American Thoracic Guidelines. Percent predicted 6 minute walk distance was calculated using Enright et al., and Indian reference equation. PH was diagnosed using 2-D echo. The spirometry variables and 6MWT were then correlated with the mean pulmonary artery pressure. Results There were 75 patients. About 66.66 % had PH on 2-D echo. The mean% predicted six minute walk distance as per the Indian reference equation, pre- and post- exercise PaO2 as well as desaturation had a significant correlation with PH. Spirometry variables Forced Expiratory Volume in First Second (FEV1) and Forced Vital Capacity (FVC) did not correlate with PH. Conclusion Thus, the 6MWT correlated significantly with PH while spirometry did not. PMID:28384908

  1. Correlation between both morphologic and functional changes and anxiety in Alzheimer's disease.

    PubMed

    Tagai, Kenji; Nagata, Tomoyuki; Shinagawa, Shunichiro; Nemoto, Kiyotaka; Inamura, Keisuke; Tsuno, Norifumi; Nakayama, Kazuhiko

    2014-01-01

    Although anxiety symptoms are often observed in Alzheimer's disease (AD), little attention has been paid to this symptom compared with other neuropsychiatric symptoms. Twenty-six patients with mild AD underwent both magnetic resonance imaging and single photon emission tomography with technetium-99m ethyl cysteinate dimer. Neuropsychiatric symptoms were evaluated using the Behavioral Pathology in Alzheimer's Disease Scale (Behave-AD). We investigated the relationship between anxiety and neuroimaging using Statistical Parametric Mapping 8 software. The Behave-AD anxiety score was correlated with hyperperfusion in the bilateral anterior cingulate cortices and a reduction in the gray matter volume in the right precuneus and inferior parietal lobule. Our results suggest that anxiety in AD could overlap with the neural correlates of anxiety disorders, and that the specific degeneration associated with AD might be associated with anxiety. © 2014 S. Karger AG, Basel.

  2. Correlative Light and Electron Microscopy (CLEM) and its applications in infectious disease

    DTIC Science & Technology

    2016-05-20

    of particular interest for infectious disease research include regular fluorescence or confocal imaging, live cell imaging, and super- resolution...Tomography, SEM, Focus Ion Beam (FIB)-SEM or block face-SEM (Figure 3). Regular Fluorescence or Confocal Correlative EM This family of LM requires a...Traffic, 2008. 9(11): p. 1828-38. 42. Hoboth, P., et al., Aged insulin granules display reduced microtubule-dependent mobility and are disposed within

  3. Alveolar hydatid disease of the liver: computed tomography and transabdominal ultrasound with histopathological correlation.

    PubMed

    Choji, K; Fujita, N; Chen, M; Spiers, A S; Morita, Y; Shinohara, M; Nojima, T; Irie, G

    1992-08-01

    The appearances of alveolar hydatid disease of the liver (AHDL) on computed tomography (CT) and ultrasound (US) were retrospectively compared with histopathological appearances in 67 patients with 100 separate lesions. The radiological features were correlated directly with the pathological specimens obtained from each patient. We conclude that the CT appearances are more specific, but that US has a role to play in mass screening in endemic areas, and intraoperatively.

  4. BAFF expression correlates with idiopathic inflammatory myopathy disease activity measures and autoantibodies.

    PubMed

    López De Padilla, Consuelo M; McNallan, Kelly T; Crowson, Cynthia S; Bilgic, Hatice; Bram, Richard J; Hein, Molly S; Ytterberg, Steven R; Amin, Shreyasee; Peterson, Erik J; Baechler, Emily C; Reed, Ann M

    2013-03-01

    To investigate B cell survival cytokine messenger RNA (mRNA) levels as biomarkers of idiopathic inflammatory myopathies (IIM). We measured and compared mRNA levels of B cell survival cytokines by quantitative real-time polymerase chain reaction in 98 patients with IIM, 38 patients with systemic lupus erythematosus, and 21 healthy controls. The cytokines were B cell-activating factor belonging to the tumor necrosis factor family (BAFF); ΔBAFF; and a proliferation-inducing ligand (APRIL); and their receptors BAFF-R, transmembrane activator and calcium modulator and cyclophilin ligand interactor, and B cell maturation antigen (BCMA). We also identified autoantibodies, including anti-Sm, anti-RNP, anti-SSA/Ro, anti-SSB/La, anti-topoisomerase 1, anti-hystidyl-tRNA synthetase, anti-ribosomal P, and anti-chromatin. Clinical disease activity was assessed by the International Myositis Assessment and Clinical Studies core set tool. We examined correlation of mRNA with disease activity, medication use, and autoantibodies. We found a positive correlation of BAFF and ΔBAFF expression with 3 disease activity measures, with ΔBAFF having a stronger correlation. Similarly, anti-SSA/Ro-52 and/or anti-SSA/Ro-60 had a strong positive correlation with mRNA levels of BAFF and ΔBAFF, and with relative ratios of BAFF/APRIL and BCMA/BAFF-R. These findings highlight the potential importance of BAFF, ΔBAFF, and BAFF-R in the pathogenesis of IIM, and suggest an important role in the assessment of disease activity.

  5. Assessment of first-trimester thymus size and correlation with maternal diseases and fetal outcome.

    PubMed

    Borgelt, Judith M A; Möllers, Mareike; Falkenberg, Maria K; Amler, Susanne; Klockenbusch, Walter; Schmitz, Ralf

    2016-02-01

    We investigated the reliability of fetal thymus measurement during first-trimester screening, and associated fetal thymus size with crown-rump length, maternal diseases and fetal outcome. In a retrospective cohort of 971 normal singleton first-trimester fetuses, we measured the anterior-posterior diameter of the thymus in a midsagittal plane in 767 fetuses. The intra-observer and inter-observer reliabilities were tested by intra-class correlation coefficient. We correlated thymus size with fetal crown-rump length, and investigated its association with maternal diseases (diabetes mellitus, rheumatic disorders, hypertension and coagulation disorders) and fetal outcome (small for gestational age, preterm birth and umbilical artery pH) using regression analyses. The intra-observer and inter-observer reliabilities of fetal thymus measurement were excellent (intra-class correlation coefficient 0.926, 95% CI 0.745-0.981 and 0.945, 95% CI 0.886-0.993, respectively). A linear relationship was found between crown-rump length and thymus size (β = 0.023, p = 0.001). Pregnancies affected by maternal diabetes had a decreased fetal thymus size (β = -0.209, p = 0.001), whereas in pregnancies affected by maternal rheumatic disease the thymus size was increased (β = 0.285, p < 0.001). Fetal thymus size was not associated with maternal hypertension or maternal coagulation disorders. There was a positive association between preterm birth and fetal thymus size (p < 0.001). Measurement of first-trimester thymus size is reliable. Fetal thymus size has a linear correlation with crown-rump length. Maternal diabetes, rheumatic disease and preterm birth appear to have an association with fetal thymus size. © 2015 Nordic Federation of Societies of Obstetrics and Gynecology.

  6. Automated gait and balance parameters diagnose and correlate with severity in Parkinson disease.

    PubMed

    Dewey, D Campbell; Miocinovic, Svjetlana; Bernstein, Ira; Khemani, Pravin; Dewey, Richard B; Querry, Ross; Chitnis, Shilpa; Dewey, Richard B

    2014-10-15

    To assess the suitability of instrumented gait and balance measures for diagnosis and estimation of disease severity in PD. Each subject performed iTUG (instrumented Timed-Up-and-Go) and iSway (instrumented Sway) using the APDM(®) Mobility Lab. MDS-UPDRS parts II and III, a postural instability and gait disorder (PIGD) score, the mobility subscale of the PDQ-39, and Hoehn & Yahr stage were measured in the PD cohort. Two sets of gait and balance variables were defined by high correlation with diagnosis or disease severity and were evaluated using multiple linear and logistic regressions, ROC analyses, and t-tests. 135 PD subjects and 66 age-matched controls were evaluated in this prospective cohort study. We found that both iTUG and iSway variables differentiated PD subjects from controls (area under the ROC curve was 0.82 and 0.75 respectively) and correlated with all PD severity measures (R(2) ranging from 0.18 to 0.61). Objective exam-based scores correlated more strongly with iTUG than iSway. The chosen set of iTUG variables was abnormal in very mild disease. Age and gender influenced gait and balance parameters and were therefore controlled in all analyses. Our study identified sets of iTUG and iSway variables which correlate with PD severity measures and differentiate PD subjects from controls. These gait and balance measures could potentially serve as markers of PD progression and are under evaluation for this purpose in the ongoing NIH Parkinson Disease Biomarker Program. Copyright © 2014 Elsevier B.V. All rights reserved.

  7. Automated Gait and Balance Parameters Diagnose and Correlate with Severity in Parkinson Disease

    PubMed Central

    Dewey, Daniel C.; Miocinovic, Svjetlana; Bernstein, Ira; Khemani, Pravin; Dewey, Richard B.; Querry, Ross; Chitnis, Shilpa; Dewey, Richard B.

    2014-01-01

    Objective To assess the suitability of instrumented gait and balance measures for diagnosis and estimation of disease severity in PD. Methods Each subject performed iTUG (instrumented Timed-Up-and-Go) and iSway (instrumented Sway) using the APDM® Mobility Lab. MDS-UPDRS parts II and III, a postural instability and gait disorder (PIGD) score, the mobility subscale of the PDQ-39, and Hoehn & Yahr stage were measured in the PD cohort. Two sets of gait and balance variables were defined by high correlation with diagnosis or disease severity and were evaluated using multiple linear and logistic regressions, ROC analyses, and t-tests. Results 135 PD subjects and 66 age-matched controls were evaluated in this prospective cohort study. We found that both iTUG and iSway variables differentiated PD subjects from controls (area under the ROC curve was 0.82 and 0.75 respectively) and correlated with all PD severity measures (R2 ranging from 0.18 to 0.61). Objective exam-based scores correlated more strongly with iTUG than iSway. The chosen set of iTUG variables was abnormal in very mild disease. Age and gender influenced gait and balance parameters and were therefore controlled in all analyses. Interpretation Our study identified sets of iTUG and iSway variables which correlate with PD severity measures and differentiate PD subjects from controls. These gait and balance measures could potentially serve as markers of PD progression and are under evaluation for this purpose in the ongoing NIH Parkinson Disease Biomarker Program. PMID:25082782

  8. Pathogenesis of aphthoid ulcers in Crohn's disease: correlative findings by magnifying colonoscopy, electron microscopy, and immunohistochemistry.

    PubMed Central

    Fujimura, Y; Kamoi, R; Iida, M

    1996-01-01

    BACKGROUND--The mechanism of ulceration in Crohn's disease remains unknown. AIMS--To clarify the role of the follicle associated epithelium (FAE) of colonic lymphoid nodules in the formation of ulcers in Crohn's disease. METHODS--After identification of colonic lymphoid nodules and aphthoid lesions by magnifying colonoscopy, 76 biopsy specimens were obtained from 10 patients with Crohn's disease and three patients with colonic lymphoid hyperplasia. This study correlated magnifying colonoscopic, electron microscopic, and immunohistochemical findings of biopsy specimens. RESULTS--In Crohn's disease, scanning electron microscopy of lymphoid nodules surrounded by a red halo without visible erosions by magnifying colonoscopy, showed surface erosions 150-200 microns in size. These lymphoid nodules with red halos had small erosions either light microscopically or electron microscopically in 18 of 21 specimens (86%). Correlation of scanning and transmission electron microscopy showed residues of FAE including M cells at the edges of the erosions. In immunohistochemical studies, HLA-DR antigen was limited in M cells of FAE in the patients with lymphoid hyperplasia without inflammatory bowel disease. In Crohn's disease patients in remission, however, HLA-DR antigen was strongly expressed over the entire FAE of lymphoid nodules with a red halo endoscopically, while the expression was weak and irregular in the mucosa surrounding the lymphoid nodules. HLA-DR was strongly expressed in the entire inflamed colonic mucosa in the active stage. CONCLUSION--The red halo appearance surrounding lymphoid follicles seems to precede visible aphthoid ulcers and suggests that ulcerations in Crohn's disease originate from FAE, possibly related to its physiological role as a portal of entry for potentially pathogenic agents. Images Figure 1 Figure 2 Figure 3 Figure 4 Figure 5 PMID:8707119

  9. Disease Activity in Lupus Correlates with Expression of the Transcription Factor ARID3a

    PubMed Central

    Ward, Julie M; Rose, Kira; Montgomery, Courtney; Adrianto, Indra; James, Judith A; Merrill, Joan T; Webb, Carol F

    2014-01-01

    Objective Systemic lupus erythematosus (SLE) is a complex and multifactorial autoimmune disease with striking clinical, immunologic and genetic heterogeneity, despite nearly ubiquitous antinuclear antibody (ANA) production. Multiple gene polymorphisms have been associated with the disease, but individually account for only a very small percentage of overall SLE risk. In earlier studies, constitutive expression of the DNA-binding protein, A+T rich interacting domain 3a (ARID3a) in transgenic mouse B lymphocyte lineage cells led to spontaneous ANA production and preferential development of B cells associated with production of polyreactive antibodies. Therefore, we asked if ARID3a was over-expressed in B lymphocytes of SLE patients and if ARID3a expression was associated with disease severity. Methods A cross section of SLE patients and age and gender-matched controls were analyzed longitudinally for lupus disease activity, numbers of ARID3a+ peripheral blood mononuclear B cells from multiple B cell subsets, immunoglobulin and cytokine levels. Results Fifty of 115 patients (43%) had dramatically increased numbers of ARID3a+ B cells compared to healthy controls. ARID3a is not expressed in naïve B cells of healthy controls, but was abundant in these precursors of antibody-secreting cells in SLE patients. Total numbers of ARID3a+ B cells correlated with increased disease activity as defined by SLE Disease Activity Index scores in individuals assessed at three time points. Conclusion These findings identify B cell anomalies in SLE that allow stratification of patient samples based on ARID3a expression and implicate ARID3a as a potential marker of CD19+ B lymphocytes correlated with disease activity. PMID:25185498

  10. VENTRICULAR MAPS IN 804 SUBJECTS CORRELATE WITH COGNITIVE DECLINE, CSF PATHOLOGY, AND IMMINENT ALZHEIMER'S DISEASE.

    PubMed

    Chou, Yi-Yu; Leporé, Natasha; Madsen, Sarah K; Saharan, Priya; Hua, Xue; Jack, Clifford R; Shaw, Leslie M; Trojanowski, John Q; Weiner, Michael W; Toga, Arthur W; Thompson, Paul M

    2010-04-01

    There is an urgent need for neuroimaging biomarkers of Alzheimer's disease (AD) that correlate with cognitive decline, and with accepted measures of pathology detectable in cerebrospinal fluid (CSF). Ideal biomarkers should also be able to predict future decline, and should be computable automatically from hundreds to thousands of images without user intervention. Here we used our multi-atlas fluid image alignment method (MAFIA [1]), to automatically segment parametric 3D surface models of the lateral ventricles in brain MRI scans from 184 AD, 391 MCI, and 229 healthy elderly controls. Radial expansion of the ventricles, computed pointwise, was correlated with measures of (1) clinical decline, (2) pathology from CSF, and (3) future deterioration. Surface-based correlation maps were assessed using a cumulative distribution function method to rank influential covariates according to their effect sizes. The resulting approach is highly automated, and boosts the power of fluid image registration by integrating multiple independent registrations to reduce segmentation errors.

  11. Self-reported dysphagia and its correlates within a prevalent population of people with Parkinson's disease.

    PubMed

    Walker, Richard W; Dunn, Janet R; Gray, William K

    2011-03-01

    Many people with Parkinson's disease (PD) experience dysphagia; however, the prevalence of dysphagia in people with PD is unknown. We studied a prevalent population of PD cases. All of those who consented to participate were assessed for anxiety, depression, cognitive function, and quality of life using standard rating scales. Anyone who answered "yes" to either one of the two questions: Do you have difficulty swallowing food/liquid or tablets? and Do you cough after eating/drinking? was considered to have dysphagia. Question 7 of the Unified Parkinson's Disease Rating Scale (UPDRS) was also used to identify dysphagia. Of 106 prevalent PD cases, 75 (38 males) patients consented to examination and assessment. The prevalence of dysphagia was 32.0% (n=24; 11 males). Using the response to UPDRS Question 7 as an indicator of the impact of swallowing problems on the patient, there were significant correlations with cognitive function, anxiety, depression, quality of life, and UPDRS-reported gait disturbance, postural instability and problems with falling. There was no correlation with disease duration, age, or gender. Almost one third of the participants reported dysphagia. There was a strong correlation between dysphagia and gross motor skills; patients reporting such problems should be screened for swallowing problems. © Springer Science+Business Media, LLC 2010

  12. Topoisomerase II{alpha} expression correlates with diminished disease-free survival in invasive breast cancer

    SciTech Connect

    O'Connor, John K. . E-mail: joconno@yahoo.com; Hazard, Lisa J.; Lee, R. Jeffrey; Fischbach, Jennifer; Gaffney, David K.

    2006-08-01

    Purpose: Topoisomerase II{alpha} (Topo II{alpha}) plays a role in DNA replication and is the molecular target for anthracyline-based chemotherapy. The purpose of this study was to evaluate the relationship between Topo II{alpha} expression and survival in patients with invasive breast cancer. Methods and Materials: Formalin-fixed, paraffin-embedded tumor specimens from 24 women with invasive breast cancer were stained for Topo II{alpha} expression. All women underwent mastectomy. Radiotherapy was given at University of Utah Department of Radiation Oncology. Of the patients, 23 (96%) received chemotherapy. The level of Topo II{alpha} expression within tumor cells was compared with clinical factors and overall survival. Results: The median percentage of tumor cells expressing Topo II{alpha} was 70%. Increased Topo II{alpha} tumor expression significantly correlated with diminished disease-free survival. Five-year disease-free survival was 100% for patients with <70% of breast cancer cells expressing Topo II{alpha} compared with 42% for patients with {>=}70% Topo II{alpha} expression (p 0.008). The level of Topo II{alpha} expression within tumor cells correlated with T stage (p = 0.008) but not with other pathologic factors. Conclusions: Increased Topo II{alpha} expression significantly correlated with diminished disease-free survival in patients with invasive breast cancer. These findings may indicate a role for Topo II{alpha} expression as a prognostic factor in breast cancer.

  13. Correlation of hyponatremia with hepatic encephalopathy and severity of liver disease.

    PubMed

    Qureshi, Muhammad Omar; Khokhar, Nasir; Saleem, Atif; Niazi, Tariq Khan

    2014-02-01

    To assess the frequency of low serum sodium levels and to correlate it with the severity of liver disease and hepatic encephalopathy (HE) in patients coming to the tertiary care hospital. Observational study. Shifa International Hospital, Islamabad, from January 2011 to January 2012. A total of 202 patients with hepatic encephalopathy and chronic liver disease had serum sodium measured. The HE was graded according to the West Haven classification (4 grades). Relationship of hyponatremia was correlated with severity grade of encephalopathy using Spearman rank correlation test. Out of 202 patients, 62 (30.7%) patients had serum sodium less than 130 meq/l. Out of 202, HE was present in 69 (34.15%) patients and out of these, 38 had grade III-IV HE and 31 had grade I - II HE. Out of 69 patients with HE 57 had sodium less than 135 (p < 0.001). Hyponatremia was a common feature in patients with cirrhosis and its severity increased with the severity of liver disease. The existence of serum sodium concentration < 135 mmol/L was associated with greater frequency of hepatic encephalopathy compared with patients with serum sodium concentration > 135 mmol/L.

  14. Herpes zoster correlates with increased risk of Parkinson's disease in older people

    PubMed Central

    Lai, Shih-Wei; Lin, Chih-Hsueh; Lin, Hsien-Feng; Lin, Cheng-Li; Lin, Cheng-Chieh; Liao, Kuan-Fu

    2017-01-01

    Abstract Little is known on the relationship between herpes zoster and Parkinson's disease in older people. This study aimed to explore whether herpes zoster could be associated with Parkinson's disease in older people in Taiwan. We conducted a retrospective cohort study using the claim data of the Taiwan National Health Insurance Program. There were 10,296 subjects aged 65 years and older with newly diagnosed herpes zoster as the herpes zoster group and 39,405 randomly selected subjects aged 65 years and older without a diagnosis of herpes zoster as the nonherpes zoster group from 1998 to 2010. Both groups were followed up until subjects received a diagnosis of Parkinson's disease. This follow-up design would explore whether subjects with herpes zoster were at an increased risk of Parkinson's disease. Relative risks were estimated by adjusted hazard ratio (HR) and 95% confidence interval (CI) using the multivariable Cox proportional hazards regression model. The incidence of Parkinson's disease was higher in the herpes zoster group than that in the nonherpes zoster group (4.86 vs 4.00 per 1000 person-years, 95% CI 1.14, 1.29). After adjustment for confounding factors, the multivariable Cox proportional hazards regression model revealed that the adjusted HR of Parkinson's disease was 1.17 for the herpes zoster group (95% CI 1.10, 1.25), compared with the nonherpes zoster group. Older people with herpes zoster confer a slightly increased hazard of developing Parkinson's disease when compared to those without herpes zoster. We think that herpes zoster correlates with increased risk of Parkinson's disease in older people. When older people with herpes zoster seek help, clinicians should pay more attention to the development of the cardinal symptoms of Parkinson's disease. PMID:28207515

  15. Stressful life events and psychosocial correlates of pediatric inflammatory bowel disease activity

    PubMed Central

    Giannakopoulos, George; Chouliaras, George; Margoni, Daphne; Korlou, Sophia; Hantzara, Vassiliki; Panayotou, Ioanna; Roma, Eleftheria; Liakopoulou, Magda; Anagnostopoulos, Dimitris C

    2016-01-01

    AIM To investigate the association of psychiatric and psychosocial correlates with inflammatory bowel disease (IBD) activity in children and adolescents. METHODS A total of 85 pediatric IBD patients (in remission or active state of the disease) and their parents completed a series of questionnaires and semi-structured interviews measuring life events, depression, anxiety, family dysfunction, and parent mental health. Differences between the remission and the IBD active group and the association of any significant variable with the disease activity state were examined. RESULTS Parents of children being in active state of the disease reported more life events (P = 0.005) and stressful life events (P = 0.048) during the past year and more mental health symptoms (P < 0.001), while the children themselves reported higher levels of anxiety symptoms (P = 0.017) compared to the remission group. In the logistic regression multivariate analysis, the only predictor which had a significant positive effect on the probability of the patients being in active state was parent mental health symptoms (OR = 4.8; 95%CI: 1.2-25.8). CONCLUSION Life events, child anxiety and parent mental health symptoms may be important correlates of pediatric IBD activity and targets of thorough assessment and treatment. PMID:27679771

  16. Genetic correlation between rheumatoid arthritis and periodontal disease: the role of sex and IL-10.

    PubMed

    Azzi, L; Rania, S; Spadari, F; Vinci, R; Manfredini, M; Croveri, F; Boggio, A; Tettamanti, L; Tagliabue, A; Silvestre-Rangil, J; Bellintani, C

    2017-01-01

    The chronic stimulation of the immune system due to the presence of bacterial antigens within periodontal tissues has been associated with several autoimmune diseases, like diabetes mellitus, infective endocarditis or cardiovascular atherosclerosis. The current study aims at evaluating the correlation between Rheumatoid Arthritis (RA) and Periodontal Disease (PD) with special attention to genetic polymorphisms in cytokine expression. A total number of 34 patients affected by RA were recruited. Each of them underwent haematochemical analysis and data were collected for Rheumatoid Factor (RF), Anti-Citrullinated Protein’s Antibody (CCP) and HLA-BDR1. DAS-28 questionnaire for disease activity was fulfilled by the rheumatologist, while a periodontal examination was carried out by the dental clinician and crevicular fluid samples were collected to evaluate the IL-6, IL-10 and VDR polymorphysms. A connection between CCP and IL-10 polymorphisms was found, with IL-10 expressing protecting tendency against periodontal disease when CCP are found in the bloodstream (p=0.0017). Finally, males mainly expressed IL-10 predisposing genes (p=0.046), while females showed a greater tendency to express RF (p=0.014) and CCP (p=0.050). This paper corroborates the idea of a correlation between sex, IL-10 polymorphisms and RA, which should be studied in depth, since recent papers have shown that IL-10 injected into joints seems to decrease inflammation.

  17. Correlation of impaired subjective visual vertical and postural instability in Parkinson's disease.

    PubMed

    Pereira, Cristiana Borges; Kanashiro, Aline Kozoroski; Maia, Fernanda Martins; Barbosa, Egberto Reis

    2014-11-15

    Perception of verticality is essential for postural control. On the other hand, postural instability is one of the cardinal features in Parkinson's disease (PD). Thus, the objective of this study was to evaluate the vertical perception using the subjective visual vertical test in PD patients with different degrees of postural instability and in different stages of disease. Forty five idiopathic PD patients were evaluated using the Unified Parkinson's Disease Rating Scale (UPDRS), the Hoehn and Yahr Scale, the clinical test for postural instability, and the subjective visual vertical test. Forty-five healthy individuals were evaluated in the control group. PD patients had a compromised perception of verticality and a disturbed processing of graviceptive pathways. Good correlation was also found between subjective visual vertical and postural instability. Patients with the worst postural instability had greater deviations of subjective visual vertical. There was also a positive correlation between subjective visual vertical and scores on the UPDRS and Hoehn and Yahr Scale, with good and reasonable degree of intensity, respectively. These findings suggest that the perception of verticality is affected in PD patients and this abnormal vertical perception and disturbed processing of graviceptive pathways are associated with postural instability and to a lesser degree with disease severity. Copyright © 2014 Elsevier B.V. All rights reserved.

  18. Spatial correlation between the prevalence of transmissible spongiform diseases and British soil geochemistry.

    PubMed

    Imrie, C E; Korre, A; Munoz-Melendez, G

    2009-02-01

    Transmissible spongiform encephalopathies (TSEs) are a group of fatal neurological conditions affecting a number of mammals, including sheep and goats (scrapie), cows (BSE), and humans (Creutzfeldt-Jakob disease). The diseases are widely believed to be caused by the misfolding of the normal prion protein to a pathological isoform, which is thought to act as an infectious agent. Outbreaks of the disease are commonly attributed to contaminated feed and genetic susceptibility. However, the implication of copper and manganese in the pathology of the disease, and its apparent geographical clustering, have prompted suggestions of a link with trace elements in the environment. Nevertheless, studies of soils at regional scales have failed to provide evidence of an environmental risk factor. This study uses geostatistical techniques to investigate the correlations between the distribution of TSE prevalence and soil geochemical variables across the UK according to different spatial scales. A similar spatial pattern in scrapie and BSE occurrence is identified, which may be linked with increasing pH and total organic carbon, and decreasing iodine concentration. However, the pattern also resembles that of the density of dairy farming. Nevertheless, despite the low spatial resolution of the TSE data available for this study, the fact that significant correlations are detected indicates there is a possibility of a link between soil geochemistry, scrapie, and BSE. It is suggested that further investigations of the prevalence of TSE and environmental exposure to trace metals should take into account the factors affecting their bioavailability.

  19. Paget disease of the vulva: a histologic study of 56 cases correlating pathologic features and disease course.

    PubMed

    Shaco-Levy, Ruthy; Bean, Sarah M; Vollmer, Robin T; Papalas, John A; Bentley, Rex C; Selim, Maria Angelica; Robboy, Stanley J

    2010-01-01

    The Duke experience with 56 vulvar Paget disease patients was analyzed emphasizing pathologic features and controversial issues. Nearly all patients were Caucasian, and their mean age was 69 years. The average length of follow-up was 5.6 years. For each case, the following histologic features were evaluated and their association with disease course was examined: pseudo-invasion, adnexal involvement, signet-ring cells, cytologic atypia, glands formation, epidermal acantholysis, parakeratosis, hyperkeratosis, and chronic inflammation. The recurrence rate after surgical management was 32%, with epidermal acantholysis being the only statistically significant risk factor. Stromal invasion occurred in 10 patients (18%), and was not a statistically significant adverse prognostic indicator, although the single patient who died of the disease had the deepest stromal invasion. Recurrence was more common after resections with positive surgical margins, but this correlation was not statistically significant. Intraoperative frozen section analysis of the margins did not reduce recurrence rate, nor was it useful in attaining permanent free margins. The Paget cells were consistently reactive with cytokeratin-7 and carcinoembryonic antigen and unreactive with S-100 protein, HMB-45, and Mart-1. In addition, the tumor cells were usually positive for mucin stains. This profile helps distinguish vulvar Paget disease from its mimics, Pagetoid squamous cell carcinoma and malignant melanoma.

  20. Neural correlates of attention‐executive dysfunction in lewy body dementia and Alzheimer's disease

    PubMed Central

    Kobeleva, Xenia; Cherry, George; Killen, Alison; Gallagher, Peter; Burn, David J.; Thomas, Alan J.; O'Brien, John T.; Taylor, John‐Paul

    2015-01-01

    Abstract Attentional and executive dysfunction contribute to cognitive impairment in both Lewy body dementia and Alzheimer's disease. Using functional MRI, we examined the neural correlates of three components of attention (alerting, orienting, and executive/conflict function) in 23 patients with Alzheimer's disease, 32 patients with Lewy body dementia (19 with dementia with Lewy bodies and 13 with Parkinson's disease with dementia), and 23 healthy controls using a modified Attention Network Test. Although the functional MRI demonstrated a similar fronto‐parieto‐occipital network activation in all groups, Alzheimer's disease and Lewy body dementia patients had greater activation of this network for incongruent and more difficult trials, which were also accompanied by slower reaction times. There was no recruitment of additional brain regions or, conversely, regional deficits in brain activation. The default mode network, however, displayed diverging activity patterns in the dementia groups. The Alzheimer's disease group had limited task related deactivations of the default mode network, whereas patients with Lewy body dementia showed heightened deactivation to all trials, which might be an attempt to allocate neural resources to impaired attentional networks. We posit that, despite a common endpoint of attention‐executive disturbances in both dementias, the pathophysiological basis of these is very different between these diseases. Hum Brain Mapp 37:1254–1270, 2016. © 2015 The Authors Human Brain Mapping Published by Wiley Periodicals, Inc. PMID:26705763

  1. Parenchymal opacification in chronic infiltrative lung diseases: CT-pathologic correlation.

    PubMed

    Leung, A N; Miller, R R; Müller, N L

    1993-07-01

    To correlate areas of parenchymal opacification on thin-section computed tomographic (CT) scans with histologic findings in patients with chronic infiltrative lung disease, the CT and histologic findings were evaluated in 29 patients with 11 such diseases. Open-lung biopsy was performed after CT. The area of predominant involvement was classified as air space, interstitium, or a mixture of both. A pathologic score of disease activity was assigned, and the extent of fibrosis was assessed whenever fibrosis was present. Parenchymal opacification on CT scans corresponded to abnormalities that affected mainly the air spaces in three patients (10%), the interstitium in 13 patients (45%), or both to a similar degree in 13 patients (45%). In 25 of 29 patients (86%), parenchymal opacification was associated with potentially treatable or reversible disease. Abnormalities considered irreversible were seen in three patients with end-stage fibrosis and one patient with talcosis. Parenchymal opacification on thin-section CT scans is a nonspecific finding in diseases that affect the air spaces, interstitium, or both but usually indicates potentially treatable or reversible disease.

  2. Correlation of Periodontal Disease With Inflammatory Arthritis in the Time Before Modern Medical Intervention.

    PubMed

    Rothschild, Bruce

    2017-03-01

    Controversy exists regarding possible correlation of periodontal disease with rheumatoid arthritis (RA) and ankylosing spondylitis (AS). Confounding factors may relate to stringency of inflammatory disease diagnosis and the effect of therapeutic intervention for RA on periodontal disease. These factors are investigated in this study. Forty-five individuals with documented RA (n = 15), spondyloarthropathy (n = 15), and calcium pyrophosphate deposition disease (CPPD) (n = 15), from the Hamann-Todd collection of human skeletons compiled from 1912 to 1938, and 15 individuals contemporarily incorporated in the collection were examined for tooth loss, cavity occurrence, average and maximum lingual and buccal depth of space between tooth and bone, periosteal reaction, serpentine bone resorption, abscess formation, and root penetration of the bone surface and analyzed by analysis of variance. Tooth loss was common, but actual number of teeth lost, cavity occurrence, average and maximum lingual and buccal depth of space between tooth and bone, periosteal reaction, serpentine grooving surrounding teeth (considered a sign of inflammation), abscess formation, and root exposure (penetration of bone surface) were indistinguishable among controls and individuals with RA, spondyloarthropathy, and CPPD. Although many factors can affect periodontal disease, presence of inflammatory arthritis does not appear to be one of them. The implication is that dental disease was common in the general population and not necessarily associated with arthritis, at least before the advent of modern rheumatologic medications. As specific diagnosis did not affect prevalence, perhaps current prevalence controversy may relate to current intervention, a subject for further study.

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

    PubMed

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

    2017-08-01

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

  4. Neural correlates of attention-executive dysfunction in lewy body dementia and Alzheimer's disease.

    PubMed

    Firbank, Michael; Kobeleva, Xenia; Cherry, George; Killen, Alison; Gallagher, Peter; Burn, David J; Thomas, Alan J; O'Brien, John T; Taylor, John-Paul

    2016-03-01

    Attentional and executive dysfunction contribute to cognitive impairment in both Lewy body dementia and Alzheimer's disease. Using functional MRI, we examined the neural correlates of three components of attention (alerting, orienting, and executive/conflict function) in 23 patients with Alzheimer's disease, 32 patients with Lewy body dementia (19 with dementia with Lewy bodies and 13 with Parkinson's disease with dementia), and 23 healthy controls using a modified Attention Network Test. Although the functional MRI demonstrated a similar fronto-parieto-occipital network activation in all groups, Alzheimer's disease and Lewy body dementia patients had greater activation of this network for incongruent and more difficult trials, which were also accompanied by slower reaction times. There was no recruitment of additional brain regions or, conversely, regional deficits in brain activation. The default mode network, however, displayed diverging activity patterns in the dementia groups. The Alzheimer's disease group had limited task related deactivations of the default mode network, whereas patients with Lewy body dementia showed heightened deactivation to all trials, which might be an attempt to allocate neural resources to impaired attentional networks. We posit that, despite a common endpoint of attention-executive disturbances in both dementias, the pathophysiological basis of these is very different between these diseases.

  5. Correlation of disease activity in proliferative glomerulonephritis with glomerular spleen tyrosine kinase expression.

    PubMed

    McAdoo, Stephen P; Bhangal, Gurjeet; Page, Theresa; Cook, H Terence; Pusey, Charles D; Tam, Frederick W K

    2015-07-01

    Spleen tyrosine kinase (SYK) is an important component of the intracellular signaling pathway for various immunoreceptors. Inhibition of SYK has shown promise in preclinical models of autoimmune and glomerular disease. However, the description of SYK expression in human renal tissue, which would be desirable ahead of clinical studies, is lacking. Here we conducted immunohistochemical analysis for total and phosphorylated SYK in biopsy specimens from >120 patients with a spectrum of renal pathologies, including thin basement membrane lesion, minimal change disease, membranous nephropathy, IgA nephropathy, lupus nephritis, ANCA-associated glomerulonephritis, antiglomerular basement membrane disease, and acute tubular necrosis. We found significant SYK expression in proliferative glomerulonephritis and that glomerular expression levels correlated with presenting serum creatinine and histological features of disease activity that predict outcome in IgA nephropathy, lupus nephritis, ANCA-associated glomerulonephritis, and antiglomerular basement membrane disease. SYK was phosphorylated within pathological lesions, such as areas of extracapillary and endocapillary proliferation, and appeared to localize to both infiltrating leucocytes and to resident renal cells within diseased glomeruli. Thus SYK is associated with the pathogenesis of proliferative glomerulonephritides, suggesting that these conditions may respond to SYK inhibitor treatment.

  6. Correlation between Serum RANTES Levels and the Severity of Parkinson's Disease

    PubMed Central

    Tang, Peng; Chong, Li; Li, Xiaoqing; Liu, Yue; Liu, Peng; Hou, Chen; Li, Rui

    2014-01-01

    Inflammatory mediators may reflect a role of systemic inflammation in the neurodegenerative process of Parkinson's disease (PD). Interleukin-6 (IL-6) and chemokine ligand 5 (CCL5), also known as RANTES (regulated on activation, normal T cell expressed and secreted), have been implicated in neurodegenerative diseases including PD. Serum levels of RANTES and IL-6 of 78 consecutive PD patients and age-matched 80 controls were measured. Patients with PD had higher RANTES and IL-6 levels compared with the controls. We found that serum RANTES levels strongly correlated with Hoehn-Yahr score and disease duration in PD patients. This study indicated that patients with PD have an on-going systemic inflammatory profile where the elevated peripheral production of RANTES may play a role in the neurodegenerative process. PMID:25587378

  7. Correlation between serum RANTES levels and the severity of Parkinson's disease.

    PubMed

    Tang, Peng; Chong, Li; Li, Xiaoqing; Liu, Yue; Liu, Peng; Hou, Chen; Li, Rui

    2014-01-01

    Inflammatory mediators may reflect a role of systemic inflammation in the neurodegenerative process of Parkinson's disease (PD). Interleukin-6 (IL-6) and chemokine ligand 5 (CCL5), also known as RANTES (regulated on activation, normal T cell expressed and secreted), have been implicated in neurodegenerative diseases including PD. Serum levels of RANTES and IL-6 of 78 consecutive PD patients and age-matched 80 controls were measured. Patients with PD had higher RANTES and IL-6 levels compared with the controls. We found that serum RANTES levels strongly correlated with Hoehn-Yahr score and disease duration in PD patients. This study indicated that patients with PD have an on-going systemic inflammatory profile where the elevated peripheral production of RANTES may play a role in the neurodegenerative process.

  8. Polysomnographic Findings and Clinical Correlates in Huntington Disease: A Cross-Sectional Cohort Study.

    PubMed

    Piano, Carla; Losurdo, Anna; Della Marca, Giacomo; Solito, Marcella; Calandra-Buonaura, Giovanna; Provini, Federica; Bentivoglio, Anna Rita; Cortelli, Pietro

    2015-09-01

    To evaluate the sleep pattern and the motor activity during sleep in a cohort of patients affected by Huntington disease (HD). Cross-sectional cohort study. Sleep laboratory. Thirty HD patients, 16 women and 14 men (mean age 57.3 ± 12.2 y); 30 matched healthy controls (mean age 56.5 ± 11.8 y). Subjective sleep evaluation: Epworth Sleepiness Scale (ESS); Berlin's Questionnaire, interview for restless legs syndrome (RLS), questionnaire for REM sleep behavior disorder (RBD). Clinical evaluation: disease duration, clinical severity (unified Huntington disease motor rating scale [UHDMRS]), genetic tests. Laboratory-based full-night attended video-polysomnography (V-PSG). The duration of the disease was 9.4 ± 4.4 y, UHMDRS score was 55.5 ± 23.4, CAG repeats were 44.3 ± 4.1. Body mass index was 21.9 ± 4.0 kg/m(2). No patients or caregivers reported poor sleep quality. Two patients reported symptoms of RLS. Eight patients had an ESS score ≥ 9. Eight patients had high risk of obstructive sleep apnea. At the RBD questionnaire, two patients had a pathological score. HD patients, compared to controls, showed shorter sleep, reduced sleep efficiency index, and increased arousals and awakenings. Four patients presented with sleep disordered breathing (SDB). Periodic limb movements (PLMs) during wake and sleep were observed in all patients. No episode of RBD was observed in the V-PSG recordings, and no patients showed rapid eye movement (REM) sleep without atonia. The disease duration correlated with ESS score (P < 0.02). UHMDRS correlated positively with the ESS score (P < 0.005), and negatively with the percentage of REM sleep. Patients with Huntington disease showed a severe sleep disruption and a high prevalence of periodic limb movements, but no evidence of sleep disordered breathing or REM sleep behavior disorder. © 2015 Associated Professional Sleep Societies, LLC.

  9. Vascular endothelial growth factor in systemic lupus erythematosus - correlations with disease activity and nailfold capillaroscopy changes.

    PubMed

    Bărbulescu, Andreea Lili; Vreju, Ananu Florentin; Bugă, Ana Maria; Sandu, Raluca Elena; Criveanu, Cristina; Tudoraşcu, Diana Rodica; Gheonea, Ioana Andreea; Ciurea, Paulina Lucia

    2015-01-01

    Our study aimed to quantify serum VEGF (vascular endothelial growth factor) and its inter-relation with the severity of microvascular damage, assessed by nailfold capillaroscopy (NC), and to establish the possible relationship with disease activity score. We included 18 patients, diagnosed with systemic lupus erythematosus (SLE) and 17 gender and age-matched control subjects. For determining serum VEGF, we used a Human VEGF Assay kit-IBL. NC was performed, according to the standard method, using a video-capillaroscope Videocap 3.0, DS Medica, by the same examiner, blinded to clinical and laboratory data. Serum VEGF registered a mean value of 68.99±71.06 pg/mL for SLE patients and 31.84±11.74 pg/mL for controls, differences statistically significant; depending on disease activity, we found a mean value of 60.11±57.74 pg/mL, for patients with moderate disease activity vs. 30.96±11.51 pg/mL for the ones with a low activity (p=0.014). We found a moderately positive correlation, statistically significant (p=0.015), between serum level of VEGF and Systemic Lupus Erythematosus Disease Activity Index (SLEDAI). Performing NC, we found changes in 88.88% of the patients; the most frequent were increased tortuosity, dilated capillaries, an increased length and a prominent subpapillary plexus. The presence of nailfold capillaroscopy changes and serum level of VEGF, correlated moderately, positive. Since serum levels of VEGF are higher in SLE patients, compared to controls, significantly different according to disease activity degree, and directly inter-related to abnormal NC patterns and a more active disease, we can include these accessible parameters in the routine evaluation, in order to better quantify the systemic damage, individualize the treatment, improve the outcome and life quality for these patients.

  10. Hepatic sarcoidosis in patients presenting with liver dysfunction: imaging appearance, pathological correlation and disease evolution.

    PubMed

    Fetzer, David T; Rees, Mitchell A; Dasyam, Anil K; Tublin, Mitchell E

    2016-09-01

    We hypothesize that hepatic sarcoidosis is a dynamic process that can lead to cirrhosis and portal hypertension, independent of the course of thoracic disease. Therefore, we assess the imaging appearance and progression of hepatic sarcoidosis in subjects presenting with hepatic dysfunction. An IRB-approved, HIPAA-compliant, single-institution retrospective review identified 39 subjects with sarcoidosis-related liver dysfunction. Clinical information was collected. Two abdominal radiologists analyzed baseline and follow-up imaging studies, scoring features of cirrhosis. Chest CT was also analyzed. At presentation, 23 subjects (59.0 %) exhibited >3 cirrhotic features and 15 (38.5 %) >2 findings of portal hypertension. Of subjects with available follow-up, 57.9 % (19 subjects; mean interval 4.7 years) showed worsening of >3 cirrhotic features (Pearson rho = 0.58; p = 0.009). Parenchymal nodules were uncommon (25.6 %), and most regressed. Although 87.2 % of subjects were diagnosed with thoracic sarcoidosis, there was poor correlation between severity of hepatic and chest disease (Pearson rho = 0.30; p = 0.119). A mean of 7.2 years elapsed between diagnosis of pulmonary and liver involvement. Sarcoidosis may present as liver dysfunction, cirrhosis or portal hypertension. Sarcoid-related liver disease may progress and can manifest without, alongside or significantly after a diagnosis of pulmonary disease. • Patients often present with elevated liver function tests indicating cholestasis. • Patients may present with portal hypertension, and some progress to cirrhosis. • Though biopsy can be considered for focal liver lesions, most will regress. • Extent of intra-abdominal involvement may not correlate with severity of thoracic disease. • Liver disease may manifest alongside, prior to or significantly after initial diagnosis.

  11. Correlation of Visuospatial Ability and EEG Slowing in Patients with Parkinson's Disease

    PubMed Central

    Meyer, Antonia; Chaturvedi, Menorca; Hatz, Florian; Gschwandtner, Ute

    2017-01-01

    Background. Visuospatial dysfunction is among the first cognitive symptoms in Parkinson's disease (PD) and is often predictive for PD-dementia. Furthermore, cognitive status in PD-patients correlates with quantitative EEG. This cross-sectional study aimed to investigate the correlation between EEG slowing and visuospatial ability in nondemented PD-patients. Methods. Fifty-seven nondemented PD-patients (17 females/40 males) were evaluated with a comprehensive neuropsychological test battery and a high-resolution 256-channel EEG was recorded. A median split was performed for each cognitive test dividing the patients sample into either a normal or lower performance group. The electrodes were split into five areas: frontal, central, temporal, parietal, and occipital. A linear mixed effects model (LME) was used for correlational analyses and to control for confounding factors. Results. Subsequently, for the lower performance, LME analysis showed a significant positive correlation between ROCF score and parietal alpha/theta ratio (b = .59, p = .012) and occipital alpha/theta ratio (b = 0.50, p = .030). No correlations were found in the group of patients with normal visuospatial abilities. Conclusion. We conclude that a reduction of the parietal alpha/theta ratio is related to visuospatial impairments in PD-patients. These findings indicate that visuospatial impairment in PD-patients could be influenced by parietal dysfunction. PMID:28348918

  12. Reproducibility and Respiratory Function Correlates of Exhaled Breath Fingerprint in Chronic Obstructive Pulmonary Disease

    PubMed Central

    Incalzi, Raffaele Antonelli; Pennazza, Giorgio; Scarlata, Simone; Santonico, Marco; Petriaggi, Massimo; Chiurco, Domenica; Pedone, Claudio; Arnaldo; D'Amico

    2012-01-01

    Background The electronic nose (e nose) provides distinctive breath fingerprints for selected respiratory diseases. Both reproducibility and respiratory function correlates of breath fingerprint are poorly known. Objectives To measure reproducibility of breath fingerprints and to assess their correlates among respiratory function indexes in elderly healthy and COPD subjects. Method 25 subjects (5 COPD patients for each GOLD stage and 5 healthy controls) over 65 years underwent e-nose study through a seven sensor system and respiratory function tests at times 0, 7, and 15 days. Reproducibility of the e nose pattern was computed. The correlation between volatile organic compound (VOC) pattern and respiratory function/clinical parameters was assessed by the Spearman's rho. Measurements and Main Results VOC patterns were highly reproducible within healthy and GOLD 4 COPD subjects, less among GOLD 1–3 patients.VOC patterns significantly correlated with expiratory flows (Spearman's rho ranging from 0.36 for MEF25% and sensor Co-Buti-TPP, to 0.81 for FEV1% and sensor Cu-Buti-TPP p<0.001)), but not with residual volume and total lung capacity. Conclusions VOC patterns strictly correlated with expiratory flows. Thus, e nose might conveniently be used to assess COPD severity and, likely, to study phenotypic variability. However, the suboptimal reproducibility within GOLD 1–3 patients should stimulate further research to identify more reproducible breath print patterns. PMID:23077492

  13. Reproducibility and respiratory function correlates of exhaled breath fingerprint in chronic obstructive pulmonary disease.

    PubMed

    Incalzi, Raffaele Antonelli; Pennazza, Giorgio; Scarlata, Simone; Santonico, Marco; Petriaggi, Massimo; Chiurco, Domenica; Pedone, Claudio; D'Amico, Arnaldo

    2012-01-01

    The electronic nose (e nose) provides distinctive breath fingerprints for selected respiratory diseases. Both reproducibility and respiratory function correlates of breath fingerprint are poorly known. To measure reproducibility of breath fingerprints and to assess their correlates among respiratory function indexes in elderly healthy and COPD subjects. 25 subjects (5 COPD patients for each GOLD stage and 5 healthy controls) over 65 years underwent e-nose study through a seven sensor system and respiratory function tests at times 0, 7, and 15 days. Reproducibility of the e nose pattern was computed. The correlation between volatile organic compound (VOC) pattern and respiratory function/clinical parameters was assessed by the Spearman's rho. VOC patterns were highly reproducible within healthy and GOLD 4 COPD subjects, less among GOLD 1-3 patients.VOC patterns significantly correlated with expiratory flows (Spearman's rho ranging from 0.36 for MEF25% and sensor Co-Buti-TPP, to 0.81 for FEV1% and sensor Cu-Buti-TPP p<0.001)), but not with residual volume and total lung capacity. VOC patterns strictly correlated with expiratory flows. Thus, e nose might conveniently be used to assess COPD severity and, likely, to study phenotypic variability. However, the suboptimal reproducibility within GOLD 1-3 patients should stimulate further research to identify more reproducible breath print patterns.

  14. Subthalamic Synchronized Oscillatory Activity Correlates With Motor Impairment in Patients With Parkinson’s Disease

    PubMed Central

    Neumann, Wolf-Julian; Degen, Katharina; Schneider, Gerd-Helge; Brücke, Christof; Huebl, Julius; Brown, Peter; Kühn, Andrea A.

    2016-01-01

    Objective Beta band oscillations in the subthalamic nucleus (STN) have been proposed as a pathophysiological signature in patients with Parkinson’s disease (PD). The aim of this study was to investigate the potential association between oscillatory activity in the STN and symptom severity in PD. Methods Subthalamic local field potentials were recorded from 63 PD patients in a dopaminergic OFF state. Power-spectra were analyzed for the frequency range from 5 to 95 Hz and correlated with individual UPDRS-III motor scores in the OFF state. Results A correlation between total UPDRS-III scores and 8 to 35 Hz activity was revealed across all patients (ρ = 0.44, P <.0001). When correlating each frequency bin, a narrow range from 10 to 15 Hz remained significant for the correlation (false discovery rate corrected P <.05). Conclusion Our results show a correlation between local STN 8 to 35 Hz power and impairment in PD, further supporting the role of subthalamic oscillatory activity as a potential biomarker for PD. PMID:27548068

  15. Neural Correlates of Stroop Performance in Alzheimer's Disease: A FDG-PET Study.

    PubMed

    Yun, Je-Yeon; Lee, Dong Young; Seo, Eun Hyun; Choo, Il Han; Park, Shin Young; Kim, Shin Gyeom; Woo, Jong In

    2011-01-01

    The Stroop test is commonly applied in elderly subjects for the evaluation of cognitive impairment related to Alzheimer's disease (AD) and related disorders. This study aimed to investigate the functional neural correlates of the Stroop performance in AD. In 136 probable AD patients and 54 cognitively normal elderly, a [(18)F]-fluorodeoxyglucose positron emission tomography scan and Stroop Color Word Test (SCWT) were performed. The correlations between the Stroop effect, which was measured by 6 different scoring methods, and regional cerebral glucose metabolism (rCMglc) were explored using a region-of-interest (ROI) approach and voxel-based analysis. Among 6 Stroop interference measures, only 2 scores, including the SCWT color-word (CW) score, were significantly correlated with rCMglc of the dorsolateral prefrontal and anterior cingulate ROIs. Voxel-based analysis revealed significant positive correlations between SCWT CW scores and rCMglc in the inferior parietal lobule, middle temporal gyrus and middle frontal gyrus. Such correlations remained significant only in the less severe AD group. In AD patients, the Stroop effect depends on the functional integrity of the prefrontal cortices. Some parietotemporal regions also appear to be responsible for the Stroop effect in AD individuals.

  16. Primary Diffuse Leptomeningeal Gliomatosis: Radiological/Pathological Features

    PubMed Central

    Mohamed, Mohamed

    2016-01-01

    We present the case of a 43-year-old lady who presented with headaches, visual impairment, and seizures, progressing rapidly over the course of a few weeks. Extensive workup excluded an inflammatory or infectious cause. Imaging studies revealed diffuse thickening of the leptomeninges and serial CSF analysis showed raised opening pressures and increased protein levels. A diagnostic biopsy of the lower thoracic dura confirmed the diagnosis of primary diffuse leptomeningeal gliomatosis (PDGL). She was managed supportively for her symptoms and unfortunately she passed away a few weeks later. PMID:27891270

  17. Mediastinal germ cell tumors: a radiologic-pathologic review.

    PubMed

    Drevelegas, A; Palladas, P; Scordalaki, A

    2001-01-01

    Germ cell tumors of the mediastinum are histologically identical to those found in the testes and ovaries. Early diagnosis and treatment improve the survival rate. Imaging studies of teratoma demonstrate a rounded, often lobulated heterogeneous mass containing soft tissue elements with fluid and fat attenuation. Calcification is present in 20-43% of cases. Seminomas are large masses of homogeneous soft tissue attenuation. Malignant nonseminomatous germ cell tumors are heterogeneous tumors with irregular borders due to invasion of adjacent structures. CT shows the location and extent of the tumors as well as intrinsic elements including soft tissue, fat, fluid, and calcification. CT is the modality of choice for the diagnostic evaluation of these tumors. MRI reveals masses of heterogeneous signal intensity, is more sensitive in depicting infiltration of the adjacent structures by fat plane obliteration, and is performed as an ancillary study.

  18. Muscle MRI Findings in Childhood/Adult Onset Pompe Disease Correlate with Muscle Function

    PubMed Central

    Figueroa-Bonaparte, Sebastián; Segovia, Sonia; Llauger, Jaume; Belmonte, Izaskun; Pedrosa, Irene; Alejaldre, Aída; Mayos, Mercè; Suárez-Cuartín, Guillermo; Gallardo, Eduard; Illa, Isabel; Díaz-Manera, Jordi

    2016-01-01

    Objectives Enzyme replacement therapy has shown to be effective for childhood/adult onset Pompe disease (AOPD). The discovery of biomarkers useful for monitoring disease progression is one of the priority research topics in Pompe disease. Muscle MRI could be one possible test but the correlation between muscle MRI and muscle strength and function has been only partially addressed so far. Methods We studied 34 AOPD patients using functional scales (Manual Research Council scale, hand held myometry, 6 minutes walking test, timed to up and go test, time to climb up and down 4 steps, time to walk 10 meters and Motor Function Measure 20 Scale), respiratory tests (Forced Vital Capacity seated and lying, Maximun Inspiratory Pressure and Maximum Expiratory Pressure), daily live activities scales (Activlim) and quality of life scales (Short Form-36 and Individualized Neuromuscular Quality of Life questionnaire). We performed a whole body muscle MRI using T1w and 3-point Dixon imaging centered on thighs and lower trunk region. Results T1w whole body muscle MRI showed a homogeneous pattern of muscle involvement that could also be found in pre-symptomatic individuals. We found a strong correlation between muscle strength, muscle functional scales and the degree of muscle fatty replacement in muscle MRI analyzed using T1w and 3-point Dixon imaging studies. Moreover, muscle MRI detected mild degree of fatty replacement in paraspinal muscles in pre-symptomatic patients. Conclusion Based on our findings, we consider that muscle MRI correlates with muscle function in patients with AOPD and could be useful for diagnosis and follow-up in pre-symptomatic and symptomatic patients under treatment. Take home message Muscle MRI correlates with muscle function in patients with AOPD and could be useful to follow-up patients in daily clinic. PMID:27711114

  19. Behavioural and neuroimaging correlates of impaired self-awareness of hypo- and hyperkinesia in Parkinson's disease.

    PubMed

    Maier, Franziska; Williamson, Kim L; Tahmasian, Masoud; Rochhausen, Luisa; Ellereit, Anna L; Prigatano, George P; Kracht, Lutz; Tang, Chris C; Herz, Damian M; Fink, Gereon R; Timmermann, Lars; Eggers, Carsten

    2016-09-01

    Anosognosia or impaired self-awareness of motor symptoms (ISAm) has been rarely investigated in Parkinson's disease (PD). We here studied the relationship between ISAm during periods with and without dopaminergic medication (ON- and OFF-state), and clinical, neuropsychological, and neuroimaging data to further elucidate behavioural aspects and the neurobiological underpinnings of ISAm. Thirty-one right-handed, non-demented, non-depressed PD patients were included. ISAm was evaluated using a recently developed scale that assesses awareness of dyskinesia, resting tremor, and bradykinesia. The test was applied during both ON- and OFF-states. Multiple correlation analyses between ISAm and behavioural data were conducted. In addition, imaging of glucose metabolism using 18F-fluorodeoxyglucose positron emission tomography (FDG-PET) was performed to investigate the neural basis of ISAm. A multiple regression approach was applied to investigate metabolism alterations related to ISAm. In the OFF-state, higher ISAm was associated with left-sided disease onset, older age, and shorter disease duration. Concerning FDG-PET data, there was a significant negative correlation between higher OFF-state ISAm and decreased glucose metabolism in the right inferior frontal gyrus (IFG). In the ON-state, ISAm was not significantly correlated with clinical or behavioural data. However, there was a significant correlation between higher ISAm and an increased metabolism in the bilateral medial frontal gyrus, left IFG, right superior frontal gyrus and right precentral gyrus. The results support the role of the right hemisphere in awareness of motor symptoms in the OFF-state. In the ON-state, dopaminergic medication and dyskinesia influence ISAm and relate to metabolism changes in bilateral frontal regions. Copyright © 2016 Elsevier Ltd. All rights reserved.

  20. Circulating leptin level in rheumatoid arthritis and its correlation with disease activity: a meta-analysis.

    PubMed

    Lee, Y H; Bae, S-C

    2016-12-01

    This study aimed to evaluate the relationship between the circulating serum leptin level and rheumatoid arthritis (RA) and to establish a correlation between serum leptin levels and RA activity. We searched the PUBMED, EMBASE, and Cochrane databases. A meta-analysis was performed, comparing the serum/plasma leptin levels in patients with RA and healthy controls. Correlation coefficients between serum leptin level and either disease activity score 28 (DAS28) or C‑reactive protein (CRP) in RA patients were also examined. Thirteen studies with a total of 648 RA patients and 426 controls were included in this meta-analysis. Circulating leptin level was significantly higher in the RA group than in the control group (SMD = 1.056, 95 % CI = 0.647-1.465, p = 4.2 × 10(-7)). In addition, stratification by ethnicity showed a significantly elevated leptin level in the RA group in Caucasian, Turkish, and Arab populations (SMD = 0.813, 95 % CI = 0.137-1.490, p = 0.018, SMD = 0.981, 95 % CI = 0.307-1.655, p = 0.004, and SMD = 1.469, 95 % CI = 0.443-2.495, p = 0.005 respectively). A meta-analysis of correlation coefficients showed a small but significantly positive correlation between the circulating leptin level and either DAS28 (correlation coefficient = 0.275, 95 % CI = 0.076-0.452, p = 0.007) or CRP (correlation coefficient = 0.274, 95 % CI = 0.068-0.458, p = 0.010). Our meta-analysis demonstrated that the circulating leptin level is significantly higher in patients with RA and that a small but significantly positive correlation exists between leptin levels and RA activity.

  1. Hypothalamic damage in multiple sclerosis correlates with disease activity, disability, depression, and fatigue.

    PubMed

    Kantorová, E; Poláček, H; Bittšanský, M; Baranovičová, E; Hnilicová, P; Čierny, D; Sivák, Š; Nosáľ, V; Zeleňák, K; Kurča, E

    2017-04-01

    Disturbances in the hypothalamo-pituitary axis are supposed to modulate activity of multiple sclerosis (MS). We hypothesised that the extent of HYP damage may determine severity of MS and may be associated with the disease evolution. We suggested fatigue and depression may depend on the degree of damage of the area. 33 MS patients with relapsing-remitting and secondary progressive disease, and 24 age and sex-related healthy individuals (CON) underwent 1H-MR spectroscopy (1H-MRS) of the hypothalamus. Concentrations of glutamate + glutamin (Glx), cholin (Cho), myoinositol (mIns), N-acetyl aspartate (NAA) expressed as ratio with creatine (Cr) and NAA were correlated with markers of disease activity (RIO score), Multiple Sclerosis Severity Scale (MSSS), Depressive-Severity Status Scale and Simple Numerical Fatigue Scale. Cho/Cr and NAA/Cr ratios were decreased and Glx/NAA ratio increased in MS patients vs CON. Glx/NAA, Glx/Cr, and mIns/NAA were significantly higher in active (RIO 1-2) vs non-active MS patients (RIO 0). Glx/NAA and Glx/Cr correlated with MSSS and fatigue score, and Glx/Cr with depressive score of MS patients. In CON, relationships between Glx/Cr and age, and Glx/NAA and fatigue score were inverse. Our study provides the first evidence about significant hypothalamic alterations correlating with clinical outcomes of MS, using 1H-MRS. The combination of increased Glu or mIns with reduced NAA in HYP reflects whole-brain activity of MS. In addition, excess of Glu is linked to severe disease course, depressive mood and fatigue in MS patients, suggesting superiority of Glu over other metabolites in determining MS burden.

  2. Analysis of Morphogenic Effect of hDAB2IP on Prostate Cancer and its Disease Correlation

    DTIC Science & Technology

    2007-02-01

    hDAB2, a candidate tumor suppressor gene involved in the devel- opment of gestational trophoblastic diseases . Oncogene 17, 419–424. GLANZER, J.G., LIAO...hDAB2IP on Prostate Cancer and its Disease Correlation PRINCIPAL INVESTIGATOR: Jer-Tsong Hsieh, Ph.D. CONTRACTING...SUBTITLE Analysis of Morphogenic Effect of hDAB2IP on Prostate Cancer and its Disease 5a. CONTRACT NUMBER Correlation 5b. GRANT NUMBER W81XWH

  3. Polysomnographic Findings and Clinical Correlates in Huntington Disease: A Cross-Sectional Cohort Study

    PubMed Central

    Piano, Carla; Losurdo, Anna; Della Marca, Giacomo; Solito, Marcella; Calandra-Buonaura, Giovanna; Provini, Federica; Bentivoglio, Anna Rita; Cortelli, Pietro

    2015-01-01

    Study Objectives: To evaluate the sleep pattern and the motor activity during sleep in a cohort of patients affected by Huntington disease (HD). Design: Cross-sectional cohort study. Setting: Sleep laboratory. Patients: Thirty HD patients, 16 women and 14 men (mean age 57.3 ± 12.2 y); 30 matched healthy controls (mean age 56.5 ± 11.8 y). Interventions: Subjective sleep evaluation: Epworth Sleepiness Scale (ESS); Berlin's Questionnaire, interview for restless legs syndrome (RLS), questionnaire for REM sleep behavior disorder (RBD). Clinical evaluation: disease duration, clinical severity (unified Huntington disease motor rating scale [UHDMRS]), genetic tests. Laboratory-based full-night attended video-polysomnography (V-PSG). Measurements and Results: The duration of the disease was 9.4 ± 4.4 y, UHMDRS score was 55.5 ± 23.4, CAG repeats were 44.3 ± 4.1. Body mass index was 21.9 ± 4.0 kg/m2. No patients or caregivers reported poor sleep quality. Two patients reported symptoms of RLS. Eight patients had an ESS score ≥ 9. Eight patients had high risk of obstructive sleep apnea. At the RBD questionnaire, two patients had a pathological score. HD patients, compared to controls, showed shorter sleep, reduced sleep efficiency index, and increased arousals and awakenings. Four patients presented with sleep disordered breathing (SDB). Periodic limb movements (PLMs) during wake and sleep were observed in all patients. No episode of RBD was observed in the V-PSG recordings, and no patients showed rapid eye movement (REM) sleep without atonia. The disease duration correlated with ESS score (P < 0.02). UHMDRS correlated positively with the ESS score (P < 0.005), and negatively with the percentage of REM sleep. Conclusions: Patients with Huntington disease showed a severe sleep disruption and a high prevalence of periodic limb movements, but no evidence of sleep disordered breathing or REM sleep behavior disorder. Citation: Piano C, Losurdo A, Della Marca G, Solito M

  4. Mesenteric findings of CT enterography are well correlated with the endoscopic severity of Crohn's disease.

    PubMed

    Sakurai, Takehiro; Katsuno, Tatsuro; Saito, Keiko; Yoshihama, Sayuri; Nakagawa, Tomoo; Koseki, Hirotaka; Taida, Takashi; Ishigami, Hideaki; Okimoto, Ken-Ichiro; Maruoka, Daisuke; Matsumura, Tomoaki; Arai, Makoto; Yokosuka, Osamu

    2017-04-01

    Maintenance of mucosal healing is a primary goal when treating Crohn's disease (CD). Endoscopy is the most precise method for the assessment of mucosal healing, but is considered overly invasive for patients with CD. In contrast, CT enterography (CTE) is less invasive, but little is known about the correlation between mucosal status and CTE parameters. We recruited CD patients who underwent CTE and double balloon endoscopy (DBE) on the same day at our hospital between 2012 and 2014. CTE parameters evaluated included bowel-wall thickening, mural hyperenhancement, mural stratification (target sign), submucosal fat deposition, mesenteric hypervascularity (comb sign), increased fat density, mesenteric fibrofatty proliferation, enlarged mesenteric lymph nodes, and stenosis/sacculation. Endoscopic findings were evaluated using the Simple Endoscopic Score for Crohn's Disease (SES-CD). CTE parameters that were predictive of higher values in the SES-CD were extracted statistically. Forty-one patients were recruited, from which 191 intestinal segments were evaluated. Spearman's rank correlation coefficients showed that the majority of CTE values exhibited mild to moderate correlations with SES-CD values. Notably, multiple ordinal logistic regression analysis demonstrated that CTE findings obtained from the mesenteric area, such as mesenteric hypervascularity (comb sign) and enlarged mesenteric lymph nodes, were more critical predictors of endoscopic mucosal ulceration than those obtained from the bowel wall. This study was the first of its kind to assess correlations between CTE values and SES-CD values. Mesenteric findings of CTE, rather than mural findings, were highly correlated with the endoscopically evaluated severity of ulceration. Copyright © 2017 Elsevier B.V. All rights reserved.

  5. Pathological correlations between podocyte injuries and renal functions in canine and feline chronic kidney diseases.

    PubMed

    Ichii, O; Yabuki, A; Sasaki, N; Otsuka, S; Ohta, H; Yamasaki, M; Takiguchi, M; Namiki, Y; Hashimoto, Y; Endoh, D; Kon, Y

    2011-10-01

    Podocytes cover the glomerulus and their adjacent foot processes form a principal barrier called the slit diaphragm. Podocyte dysfunctions, including podocyte loss and slit diaphragm disruptions, induce chronic kidney diseases (CKD). In this study, we analyzed the correlations between podocyte injuries and renal dysfunctions in domestic carnivores. Dogs and cats were divided into normal and CKD groups according to renal histopathology and plasma creatinine values. Immunostaining results showed that linear reactions of slit diaphragm molecules, e.g., nephrin, podocin, and ACTN4, were parallel to glomerular capillaries in all animals. However, in dogs, reactions of nephrin and ACTN4 were changed to a granular pattern in the CKD group, and their intensities significantly decreased with the number of podocytes in the glomerulus. Moreover, the expression of nephrin and ACTN4 negatively correlated with creatinine. Real-time PCR analysis showed that nephrin mRNA expression in the kidneys of CKD dogs was significantly lower than that in normal animals, and negatively correlated with creatinine. Although no significant correlation between renal dysfunction and podocyte injury was detected in cats, histoplanimetric scores of tubulointerstitial lesions in CKD cats were higher than those in both normal cats and diseased dogs. Furthermore, mRNAs of WT1 and SD molecules were detected in urine from CKD animals. In conclusion, podocyte injuries such as podocytopenia and decreased expression of nephrin and ACTN4 in the glomerulus were more strongly correlated with renal dysfunction in dogs than in cats. These findings suggest that the CKD pathogenesis, especially susceptibilities to podocyte injuries, differed between dogs and cats.

  6. Respiratory bronchiolitis-associated interstitial lung disease: radiologic features with clinical and pathologic correlation.

    PubMed

    Park, Jai Soung; Brown, Kevin K; Tuder, Rubin M; Hale, Valerie A E; King Jr, Talmadge E; Lynch, David A

    2002-01-01

    The purpose of this work was to describe the radiographic and CT findings in patients with respiratory bronchiolitis-associated interstitial lung disease (RB-ILD) and to correlate them with clinical, physiologic, and pathologic features. RB-ILD was proved pathologically in all 21 patients. Sixteen (76%) patients were current smokers, and five (24%) patients were ex-smokers. The mean cigarette consumption was 38.7 pack-years. Chest radiographs and CT scans were semiquantitatively analyzed and correlated with clinical findings, physiologic measures, and a pathologic score of disease extent. The major radiographic findings were bronchial wall thickening in 16 patients (76%) and ground-glass opacity in 12 patients (57%). The predominant initial CT findings were central bronchial wall thickening (proximal to subsegmental bronchi) in 19 patients (90%), peripheral bronchial wall thickening (distal to subsegmental bronchi) in 18 patients (86%), centrilobular nodules in 15 patients (71%), and ground-glass opacity in 14 patients (67%), None of these CT findings had a significant zonal predominance. Other findings were upper lung predominant centrilobular emphysema (57%) and patchy areas of hypoattenuation (38%) with a lower lung predominance. Radiologic findings were similar in both current and ex-smokers. The amount of ground-glass opacity correlated inversely with arterial oxygen saturation ( r = -0.67, p = 0.04), and the areas of hypoattenuation correlated with alveolar-arterial oxygen gradient ( r = 0.56, p = 0.04). The extent of centrilobular nodules correlated with the extent of macrophages in respiratory bronchioles ( r = 0.53, p = 0.03) and with chronic inflammation of respiratory bronchioles ( r = 0.57, p = 0.02). The extent of ground-glass opacity correlated with the amount of macrophage accumulation in the alveoli and alveolar ducts ( r = 0.56, p < 0.01 and r = 0.54, p = 0.04, respectively). At follow-up CT after steroid treatment and smoking cessation, in nine

  7. Correlation of serum neutrophil gelatinase associated lipocalin with disease severity in hypertensive disorders of pregnancy

    PubMed Central

    Sachan, Rekha; Patel, ML; Gaurav, Amrita; Gangwar, Radheshyam; Sachan, Pushpalata

    2014-01-01

    Background: Vascular endothelial dysfunction is considered central to the pathogenesis of hypertensive disorders of pregnancy (HDP). Serum level of neutrophil gelatinase-associated lipocalin (NGAL) is closely related to endothelial injury. The aim of this study was to examine the correlation of serum NGAL with disease severity in HDP. Materials and Methods: This prospective case-control study was carried out for one year. After informed consent, ethical clearance, total 1,850 pregnant women were screened. Analysis was performed on 142 cases of HDP and 31 healthy controls. Quantitative measurement of serum NGAL levels was done by the enzyme linked immunosorbent assay (ELISA) technique, by using sandwich ELISA kit. Results: Mean serum NGAL value in patients with oliguria was significantly higher when compared with non-oliguric patients (P < 0.001). Serum NGAL had a positive correlation with systolic blood pressure (r ~ 0.5973), diastolic blood pressure (r ~ 0.6195), blood urea (r ~ 0.4392), serum creatinine (r ~ 0.6112), serum uric acid (r ~ 0.3878). Sensitivity and specificity of serum NGAL using a cut-off value of 545 pg/ml, for the diagnosis of HDP, was 97.89% and 93.55% respectively, using 95% confidence interval. Conclusion: Between the two groups, we found that serum NGAL had a positive correlation with disease severity and better sensitivity and specificity in the evaluation of HDP. PMID:25538909

  8. N30 Somatosensory Evoked Potential Is Negatively Correlated with Motor Function in Parkinson’s Disease

    PubMed Central

    Kang, Suk Yun; Ma, Hyeo-Il

    2016-01-01

    Objective The aim of this study was to investigate frontal N30 status in Parkinson’s disease (PD) and to examine the correlation between the amplitude of frontal N30 and the severity of motor deficits. Methods The frontal N30 was compared between 17 PD patients and 18 healthy volunteers. Correlations between the amplitude of frontal N30 and the Unified Parkinson’s Disease Rating Scale (UPDRS) motor score of the more severely affected side was examined. Results The mean latency of the N30 was not significantly different between patients and healthy volunteers (p = 0.981), but the mean amplitude was lower in PD patients (p < 0.025). There was a significant negative correlation between the amplitude of N30 and the UPDRS motor score (r = -0.715, p = 0.013). Conclusions The frontal N30 status indicates the motor severity of PD. It can be a useful biomarker reflecting dopaminergic deficits and an objective measurement for monitoring the clinical severity of PD. PMID:26828214

  9. Apathy in Patients with Parkinson's Disease Correlates with Alteration of Left Fronto-Polar Electroencephalographic Connectivity.

    PubMed

    Hatz, Florian; Meyer, Antonia; Zimmermann, Ronan; Gschwandtner, Ute; Fuhr, Peter

    2017-01-01

    Introduction: Quantitative electroencephalography (QEEG) brain frequency and network analyses are known to differentiate between disease stages in Parkinson's disease (PD) and are possible biomarkers. They correlate with cognitive decline. Little is known about changes in brain networks in relation to apathy. Objective/Aims: To analyze changes in brain network connectivities related to apathy. Methods: 40 PD patients (14 PD with mild cognitive deficits and 26 PD with normal cognition) were included. All patients had extensive neuropsychological testing; apathy was evaluated using the apathy evaluation score (AES, median 24.5, range 18-39). Resting state EEG was recorded with 256 electrodes and analyzed using fully automated Matlab® code (TAPEEG). For estimation of the connectivities between brain regions, PLI (phase lag index) was used, enhanced by a microstates segmentation. Results: After correction for multiple comparisons, significant correlations were found for single alpha2-band connectivities with the AES (p-values < 0.05). Lower connectivities, mainly involving the left fronto-polar region, were related to higher apathy scores. Conclusions: In our sample of patients with PD, apathy correlates with a network alteration mainly involving the left fronto-polar region. This might be due to dysfunction of the cortico-basal loop, modulating motivation.

  10. Correlation between horizontal mucosal thickness and probing depths at healthy and diseased implant sites.

    PubMed

    Schwarz, Frank; Claus, Christian; Becker, Kathrin

    2017-09-01

    To assess the horizontal mucosal thickness (hMT) at healthy and diseased implant sites and correlate these measurements with respective probing depths (PD). In 60 patients, hMT was assessed at the buccal aspect of healthy (n = 36) and diseased (peri-implant mucositis: n = 26; peri-implantitis: n = 167) implant sites using a validated ultrasonic A-scanner (Pirop(®) Ultrasonic Biometer A- Scan, Echo-Son, Krancowa, Poland) equipped with a specially designed tissue probe. The corresponding PD values were measured at the mid-buccal aspects. Median hMT (1.10 mm) at healthy implant sites was significantly lower when compared with diseased sites (1.68 mm; 1.61 mm) (P < 0.001, respectively). These values did not markedly differ by implant location (i.e., upper/lower jaws) or position (i.e., anterior/posterior sites). The regression model failed to reveal a significant linear association between hMT and PD values at healthy and diseased implant sites. This study has pointed to a significant increase of hMT values at diseased implant sites. © 2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  11. Neurofilament markers for ALS correlate with extent of upper and lower motor neuron disease.

    PubMed

    Poesen, Koen; De Schaepdryver, Maxim; Stubendorff, Beatrice; Gille, Benjamin; Muckova, Petra; Wendler, Sindy; Prell, Tino; Ringer, Thomas M; Rhode, Heidrun; Stevens, Olivier; Claeys, Kristl G; Couwelier, Goedele; D'Hondt, Ann; Lamaire, Nikita; Tilkin, Petra; Van Reijen, Dimphna; Gourmaud, Sarah; Fedtke, Nadin; Heiling, Bianka; Rumpel, Matthias; Rödiger, Annekathrin; Gunkel, Anne; Witte, Otto W; Paquet, Claire; Vandenberghe, Rik; Grosskreutz, Julian; Van Damme, Philip

    2017-06-13

    To determine the diagnostic performance and prognostic value of phosphorylated neurofilament heavy chain (pNfH) and neurofilament light chain (NfL) in CSF as possible biomarkers for amyotrophic lateral sclerosis (ALS) at the diagnostic phase. We measured CSF pNfH and NfL concentrations in 220 patients with ALS, 316 neurologic disease controls (DC), and 50 genuine disease mimics (DM) to determine and assess the accuracy of the diagnostic cutoff value for pNfH and NfL and to correlate with other clinical parameters. pNfH was most specific for motor neuron disease (specificity 88.2% [confidence interval (CI) 83.0%-92.3%]). pNfH had the best performance to differentially diagnose patients with ALS from DM with a sensitivity of 90.7% (CI 84.9%-94.8%), a specificity of 88.0% (CI 75.7%-95.5%) and a likelihood ratio of 7.6 (CI 3.6-16.0) at a cutoff of 768 pg/mL. CSF pNfH and NfL levels were significantly lower in slow disease progressors, however, with a poor prognostic performance with respect to the disease progression rate. CSF pNfH and NfL levels increased significantly as function of the number of regions with both upper and lower motor involvement. In particular, CSF pNfH concentrations show an added value as diagnostic biomarkers for ALS, whereas the prognostic value of pNfH and NfL warrants further investigation. Both pNfH and NfL correlated with the extent of motor neuron degeneration. This study provides Class II evidence that elevated concentrations of CSF pNfH and NfL can accurately identify patients with ALS. © 2017 American Academy of Neurology.

  12. Cytokinin panel in rheumatoid arthritis and correlation with histological patterns of synovitis -- active type of disease.

    PubMed

    Avrămescu, Carmen; Vere, C C; Mărgăritescu, Cl; Turculeanu, Adriana; Bălăşoiu, Maria; Rogoz, Suzana

    2005-01-01

    Rheumatoid arthritis (RA) is a chronically inflammatory disease of the articular synovial, with severe, progressive and irreversible articular destruction. RA pathogeny implies an autoimmune mechanism, the role of cytokines resulting from the exaggerated production of some cytokines that act as pro-inflammatory agents, being directly responsible of certain symptoms and articular destructions, and/or inadequate inhibition of certain cytokines that act as anti-inflammatory agents. We want to determine certain pro-inflammatory cytokines (tumoral-alpha -- TNF-alpha necrosis factor, interleukin-6 - IL-6, interleukin-8 - IL-8), anti-inflammatory cytokines (interleukin-10 - IL-10) and immunomodulators (interleukin-2 - IL-2) in some RA patients serum at the active stage of the disease and correlation with histological patterns of synovitis -- active type of disease. The 37 patients have been grouped in stage I (9 patients), II (15 patients) and III (13 patients) according to the anatomical staging of the ARA (American Rheumatism Association), the serum levels of the cytokines being determined by ELISA technique. From the 37 patients clinical investigated only 12 were histopathological examined. The serum levels of IL-2 have been found low in patients with RA in the active stage of the disease, the lowest values having been determined at the patients in the 3rd stage of the disease, who also have the highest values of pro-inflammatory cytokines. In the case of IL-10 the lowest values have been found at patients in the advanced stages of the disease. In the serum of RA patients with follicular synovitis TNF-alpha was a dominant cytokine compared to patients with diffuse disease, but the greatest serum level was found in patient with granulomatous synovitis. Concentrations of IL-6 and IL-2 were highest in the serum of RA patients with follicular synovitis in comparison to patients with diffuse synovitis and could distinguish RA patients with these two histological variants of

  13. Hope and spirituality among patients with chronic kidney disease undergoing hemodialysis: a correlational study1

    PubMed Central

    Ottaviani, Ana Carolina; Souza, Érica Nestor; Drago, Natália de Camargo; de Mendiondo, Marisa Silvana Zazzetta; Pavarini, Sofia Cristina Iost; Orlandi, Fabiana de Souza

    2014-01-01

    Objective to analyze the relationship between the hope and spirituality of patients with chronic kidney disease undergoing hemodialysis. Method this is a cross-sectional, correlational study. The sample was composed of 127 patients of a Renal Replacement Unit. Data were collected through individual interviews guided by the following instruments: participant characterization, Herth Hope Index (HHI), and Pinto Pais-Ribeiro Spirituality Scale (PP-RSS). Results the average HHI score was 38.06 (±4.32) while the average PP-RSS score was 3.67 (±0.62) for "beliefs" and 3.21 (±0.53) for "hope/optimism". Spearman's coefficient indicated there was a moderate positive correlation between the HHI and PP-RSS dimensions of "beliefs" (r=0.430; p<0.001) and "hope/optimism" (r=0.376; p<0.001). Conclusion Since a relationship between the sense of hope and spirituality of patients with chronic kidney disease was found, these constructs should be taken into account at the time health professionals deliver care to help patients coping with the disease and treatment. PMID:26107832

  14. The Correlation Between Body Fat, Visceral Fat, and Nonalcoholic Fatty Liver Disease.

    PubMed

    Ko, Yun-Huei; Wong, Te-Chih; Hsu, Ying-Ying; Kuo, Kuan-Liang; Yang, Shwu Huey

    2017-08-01

    This study investigated the correlation between body fat, visceral fat, and the presence of nonalcoholic fatty liver disease (NAFLD). In this cross-sectional study, participants were required to be 20 years or older, and free of liver disease (comprising either the hepatitis C virus antibody or hepatitis B surface antigen), cirrhosis, and malignant or biliary diseases. A total of 2759 participants were collected for this study. Demographic and biochemical data were collected by chart review. For estimating body fat and visceral fat, anthropometric and bioelectrical impedance analyses were conducted, whereas fatty livers were diagnosed through an abdominal ultrasound. The waist circumference (WC), body mass index (BMI), body fat, visceral fat, and metabolic syndrome (MS) were associated with NAFLD. A larger WC, higher BMI, higher levels of body and visceral fat, and the MS significantly correlated with the presence of a fatty liver. Additionally, the receiver operating characteristic suggested that the visceral fat cutoff point was 70.5 cm(2) (Youden's index = 0.4352). Visceral fat is a strong predictor of NAFLD.

  15. Low cross-neutralization of hepatitis C correlates with liver disease in immunocompromized patients.

    PubMed

    Maurin, Guillemette; Halgand, Boris; Bruscella, Patrice; Fresquet, Judith; Duclos-Vallée, Jean-Charles; Roque-Afonso, Anne-Marie; Cosset, François-Loïc; Samuel, Didier; Lavillette, Dimitri; Féray, Cyrille

    2015-06-01

    Chronic hepatitis C virus (HCV) infection causes severe liver disease in HIV-infected patients and liver transplant recipients. The impact of serum and immunoglobulin on viral entry was analysed in these patients. Sera from 60 anti-HCV positive patients, including 30 who were also anti-HIV positive, were tested with HCVpp from different genotypes (1a, 1b, 3 and 4) and with HCVcc (H77/JFH1). Seventeen HIV-seropositive and 13 HIV-seronegative patients with decompensated liver disease were studied before and after liver transplant. Serum neutralization was markedly lower after liver transplant and in HIV patients than in mono-infected immune-competent individuals. This effect was due to low antibody-mediated neutralization. In HIV patients, low neutralization was correlated with low lymphocyte T CD4 cell counts and the severity of liver disease. To characterize neutralization, we tested HCVpp lacking hypervariable region (HVR1) and SR-BI receptor cholesterol transfer inhibition by BLT-4. These experiments showed that neutralization was strongly dependent on the HVR1 and the SR-BI receptor. HVR1 sequences showed that selective pressures were low in immune-compromised patients and highly correlated to HCV neutralization after liver transplant. Neutralization experiments were reproduced with HCV strain JFH1. Serum neutralization in HIV-coinfected patients and HCV-infected liver transplant recipients is poor enhancing HCV entry through HVR1/SR-BI interplay. This may contribute to the severity of hepatitis C in these settings.

  16. Dental enamel defects in adult coeliac disease: prevalence and correlation with symptoms and age at diagnosis.

    PubMed

    Trotta, Lucia; Biagi, Federico; Bianchi, Paola I; Marchese, Alessandra; Vattiato, Claudia; Balduzzi, Davide; Collesano, Vittorio; Corazza, Gino R

    2013-12-01

    Coeliac disease is a condition characterized by a wide spectrum of clinical manifestations. Any organ can be affected and, among others, dental enamel defects have been described. Our aims were to study the prevalence of dental enamel defects in adults with coeliac disease and to investigate a correlation between the grade of teeth lesion and clinical parameters present at the time of diagnosis of coeliac disease. A dental examination was performed in 54 coeliac disease patients (41 F, mean age 37 ± 13 years, mean age at diagnosis 31 ± 14 years). Symptoms leading to diagnosis were diarrhoea/weight loss (32 pts.), anaemia (19 pts.), familiarity (3 pts.); none of the patients was diagnosed because of enamel defects. At the time of evaluation, they were all on a gluten-free diet. Enamel defects were classified from grade 0 to 4 according to its severity. Enamel defects were observed in 46/54 patients (85.2%): grade 1 defects were seen in 18 patients (33.3%) grade 2 in 16 (29.6%), grade 3 in 8 (14.8%), and grade 4 in 4 (7.4%). We also observed that grades 3 and 4 were more frequent in patients diagnosed with classical rather than non-classical coeliac disease (10/32 vs. 2/20). However, this was not statistically significant. This study confirms that enamel defects are common in adult coeliac disease. Observation of enamel defects is an opportunity to diagnose coeliac disease. Copyright © 2013 European Federation of Internal Medicine. Published by Elsevier B.V. All rights reserved.

  17. Correlation between Helicobacter pylori infection, IgE hypersensitivity, and allergic disease in Korean adults.

    PubMed

    Lee, Sang Pyo; Lee, Sun-Young; Kim, Jeong Hwan; Sung, In-Kyung; Park, Hyung Seok; Shim, Chan Sup; Moon, Hee-Won

    2015-02-01

    The correlation between allergic disease and Helicobacter pylori infection is still controversial in endemic areas. The aim of this study was to determine whether H. pylori infection is related to allergic disease and/or immunoglobulin E (IgE) hypersensitivity in Korean adults. Consecutive Korean adults who visited our center for a routine checkup were enrolled. All subjects completed a questionnaire that was designed to ascertain their medical history pertaining to physician-diagnosed allergic disease, allergy treatments, and H. pylori eradication therapy. Blood was sampled for serum anti-H. pylori IgG antibody. IgE hypersensitivity was measured using a commercially available ImmunoCAP(®) Phadiatop (Phadia AB, Uppsala, Sweden). Of the 3376 Korean adults who were enrolled, 62 did not answer to the questionnaires adequately and were thus excluded. The proportion of noninfected subjects (p < .001) and the prevalence of IgE-related allergic disease (p < .001) were both highest among those aged <40 years, while the prevalence of non-IgE-related allergic disease was highest among those aged ≥70 years (p < .001). Logistic regression analysis revealed that being younger than 40 years was significantly related to the absence of H. pylori infection (OR = 2.507, 95% CI = 1.621-3.878, p < .001). The statuses of H. pylori infection, IgE hypersensitivity, and allergic diseases differ with age group, there being a higher prevalence of IgE-related allergic disease and a lower H. pylori infection rate among young adults. The hygiene hypothesis might explain these findings in young Koreans, due to the rapid development and improvements in sanitation in Korea. © 2014 John Wiley & Sons Ltd.

  18. Tear cytokine and chemokine analysis and clinical correlations in evaporative-type dry eye disease

    PubMed Central

    Castellanos, Evangelina; Stern, Michael E.; Fernández, Itziar; Carreño, Ester; García-Vázquez, Carmen; Herreras, Jose M.; Calonge, Margarita

    2010-01-01

    Purpose Inflammatory molecules have been demonstrated in the tear film of patients with severe dry eye disease (DED). However, little attention has been paid to the most frequent moderate forms of DED. This study analyzes tear cytokine levels and their clinical correlations in patients with moderate evaporative-type DED due to meibomian gland disease (MGD). Methods Twenty three evaporative-type DED patients (46 eyes) of mild-to-moderate intensity and nine healthy subjects (18 eyes) were recruited. Two symptom questionnaires were self-answered and multiple DED-related clinical tests were performed. Unstimulated tears from each eye were isolated and were not pooled. Levels of 15 cytokines and chemokines were measured by multiplex bead analysis, compared with control levels, and correlated with clinical tests. Results Fourteen out of the 15 molecules were reliably detected in 1 μl of unstimulated tears from DED patients. Epidermal growth factor (EGF), fractalkine/CX3CL1, interleukin (IL) 1-receptor antagonist (Ra), IL-8/CXCL8, interferon inducible protein (IP)-10/CXCL10, and vascular endothelial growth factor (VEGF) were found in 94%–100% of samples; IL-6 in 65% (significantly more detected in older patients); IL-1β, interferon gamma (IFN-γ), and IL-10 in 30%–48%; IL-17 in 13%; granulocyte macrophage colony stimulating factor (GM-CSF), IL-13, and tumor necrosis factor alpha (TNF-α) in 2%–9%; and IL-5 was never detected. EGF, fractalkine/CX3CL1, IL-1Ra, IP-10/CXCL10, and VEGF levels were significantly increased compared to normal controls. Pain was correlated with IL-6 and IL-8/CXCL8. Tear break-up time correlated inversely with IL1-Ra. Schirmer test and tear lysozyme levels negatively correlated with IL-1Ra, IL-8/CXCL8, fracktalkine/CX3CL1, IL-6, IP-10/CXCL10, and VEGF had the same tendency. Conjunctival staining correlated negatively with EGF and positively with IL-6. Conclusions In this sample of moderate evaporative-type DED patients, five inflammatory

  19. Correlations among cognitive and behavioural assessments in patients with dementia due to Alzheimer's disease.

    PubMed

    de Oliveira, Fabricio Ferreira; Wajman, Jose Roberto; Bertolucci, Paulo Henrique Ferreira; Chen, Elizabeth Suchi; Smith, Marilia Cardoso

    2015-08-01

    Primarily, we sought to verify correlations among assessments for cognition, behaviour and functional independence in a sample of patients with dementia due to Alzheimer's disease (AD). Secondarily, impacts of education, APOE haplotypes, length of dementia, age and alcohol use over the neuropsychiatric assessment were estimated. Patients with AD were assessed for demographic features, neuropsychiatric symptoms, cognitive test scores, functional impairment, caregiver burden and APOE haplotypes. Statistical comparisons were undertaken by way of Kruskal-Wallis test, linear regressions and Spearman correlations, significance at ρ < 0.05. A total of 217 patients were included. Mean schooling was 4.21 ± 3.7 years, with significant impacts over cognitive tests. Mean age at examination was 78 ± 6.19 years-old, significantly influencing instrumental functionality. The mean length of the dementia syndrome was 5.4 ± 2.9 years, significantly impacting cognitive decline and functionality. Apathy was the most common behavioural symptom, negatively correlated with anxiety and delusions, and positively correlated with lifetime alcohol load. Patients with previous smoking or drinking habits were more likely to continue smoking or drinking later in life. APOE4+ haplotypes led to earlier dementia onset and significantly lower caregiver burden in mild dementia stages. Most correlations among test results were highly significant, confirming that cognition, behaviour and functionality are usually interrelated in all stages of AD. Caregiver burden was correlated with behaviour, but not with cognition, and was lower for patients with APOE4+ haplotypes in mild dementia stages. Education is a major impact factor for cognitive performance. Copyright © 2015 Elsevier B.V. All rights reserved.

  20. Correlation between plasma angiopoietin-1, angiopoietin-2 and matrix metalloproteinase-2 in coronary heart disease

    PubMed Central

    Wu, Haoyu; Shou, Xiling; Liang, Lei; Yao, Xiaowei; Cheng, Gong

    2016-01-01

    Introduction Angiopoietin-2 (Ang-2) plays a critical role in inducing tumor cell infiltration, and this invasive phenotype is caused by up-regulation of matrix metalloproteinase (MMP)-2. The relationship between Ang-2 and MMP-2 in atherosclerosis has not been reported yet. The aim is to measure the plasma concentrations of Ang-1, Ang-2 and MMP-2 and assess the correlation between the concentrations of these factors in coronary heart disease (CHD) patients. Material and methods The testing was done in a cross-sectional study. We prospectively enrolled 42 individuals with acute myocardial infarction, 42 individuals with unstable angina pectoris, 42 individuals with stable angina pectoris and 45 healthy control subjects. Concentrations of Ang-1, Ang-2 and MMP-2 were measured using the enzyme-linked immunosorbent assay (ELISA) method. Spearman’s rank correlation was calculated to evaluate the relationships between MMP-2 and Ang-1, and MMP-2 and Ang-2 in patients with CHD. Results Patients with acute myocardial infarction and unstable angina pectoris had higher Ang-2 and MMP-2 levels compared with stable angina patients and healthy control subjects (p < 0.05), while concentrations of Ang-1 were not statistically different between the groups. Spearman’s rank correlation showed that Ang-2 levels positively correlated with MMP-2 in patients with CHD (r = 0.679, p < 0.001). Conclusions Plasma Ang-2 and MMP-2 levels but not Ang-1 levels were increased in patients with CHD. Ang-1 correlated weakly with MMP-2, whereas the Ang-2 and MMP-2 correlation was strong in patients with CHD. Ang-2 may play a role in atherosclerosis, and have an interaction with MMP-2. PMID:27904510

  1. Correlation between Limb Muscle Endurance, Strength, and Functional Capacity in People with Chronic Obstructive Pulmonary Disease

    PubMed Central

    Törnberg, Anna; Wadell, Karin

    2016-01-01

    Purpose: To examine the correlation between limb muscle function (endurance and strength) and functional capacity in upper limbs (ULs) and lower limbs (LLs) of people with chronic obstructive pulmonary disease (COPD). Method: This article describes a secondary analysis of data from a randomized controlled trial. A stationary dynamometer was used to measure isokinetic muscle strength and endurance; the 6-minute walk test, the 6-minute pegboard and ring test, and the unsupported UL exercise test were used to measure functional capacity. Results: Participants were 44 adults with COPD. Muscle strength and endurance in ULs and LLs demonstrated a moderate to strong correlation with functional capacity. When controlling for muscle strength, muscle endurance was moderately correlated with functional capacity in ULs and LLs, but when controlling for muscle endurance, there was no positive and significant correlation between muscle strength and functional capacity for the ULs or LLs. Conclusions: Functional capacity seems to be more closely related to limb muscle endurance than to limb muscle strength in people with COPD. PMID:27504047

  2. Dementia in Parkinson's Disease Correlates with α-Synuclein Pathology but Not with Cortical Astrogliosis

    PubMed Central

    van den Berge, Simone A.; Kevenaar, Josta T.; Sluijs, Jacqueline A.; Hol, Elly M.

    2012-01-01

    Dementia is a common feature in Parkinson's disease (PD) and is considered to be the result of limbic and cortical Lewy bodies and/or Alzheimer changes. Astrogliosis may also affect the development of dementia, since it correlates well with declining cognition in Alzheimer patients. Thus, we determined whether cortical astrogliosis occurs in PD, whether it is related to dementia, and whether this is reflected by the presence of glial fibrillary acidic protein (GFAP) and vimentin in cerebrospinal fluid (CSF). We have examined these proteins by immunohistochemistry in the frontal cortex and by Western blot in CSF of cases with PD, PD with dementia (PDD), dementia with Lewy bodies (DLB) and nondemented controls. We were neither able to detect an increase in cortical astrogliosis in PD, PDD, or DLB nor could we observe a correlation between the extent of astrogliosis and the degree of dementia. The levels of GFAP and vimentin in CSF did not correlate to the extent of astrogliosis or dementia. We did confirm the previously identified positive correlation between the presence of cortical Lewy bodies and dementia in PD. In conclusion, we have shown that cortical astrogliosis is not associated with the cognitive decline in Lewy body-related dementia. PMID:22577599

  3. Spirometric correlates of dyspnea improvement among emergency department patients with chronic obstructive pulmonary disease exacerbation.

    PubMed

    Camargo, Carlos A; Tsai, Chu-Lin; Clark, Sunday; Kenney, Patrick A; Radeos, Michael S

    2008-07-01

    To examine whether change in slow vital capacity (SVC) correlates to dyspnea improvement during emergency department (ED) treatment of chronic obstructive pulmonary disease (COPD) exacerbation. We performed a prospective cohort study and enrolled consecutive patients during a 3-week period. ED patients > or = 55 years old with COPD exacerbation were asked to perform bedside spirometry shortly after ED arrival and again at discharge. SVC was measured first, then forced expiratory volume in the first second (FEV1), peak expiratory flow (PEF), and forced vital capacity (FVC). Concurrent with spirometry, patients rated their dyspnea on a 10-cm visual analogue scale. Thirty-six patients were enrolled. The median ED stay was 271 min (interquartile range 219-370 min). Seventy-one percent of the patients reported dyspnea improvement during their ED stay. Change in SVC was significantly higher among the patients whose dyspnea improved than among those whose did not (median increase of 0.15 L vs median decrease of 0.25 L, respectively, p < 0.01). By contrast, the change in spirometry values were similar for FEV1, PEF, and FVC (all p > 0.30). Spearman correlation supported these findings: SVC r = 0.45 (p = 0.02) versus nonsignificant correlation with FEV(1) (r = 0.33), PEF (r = -0.22), and FVC (r = 0.35). Increase in SVC significantly correlated with dyspnea improvement among ED patients with moderate-to-severe COPD exacerbation. Change in SVC merits consideration when evaluating therapeutic response during COPD exacerbation.

  4. Correlating DWI MRI with pathological and other features of Jakob-Creutzfeldt disease

    PubMed Central

    Geschwind, Michael D.; Potter, Christopher A.; Sattavat, Mamta; Garcia, Paul A.; Rosen, Howard J.; Miller, Bruce L.; DeArmond, Stephen J.

    2009-01-01

    Diffusion-weighted (DWI) MRI is a highly sensitive and specific test for diagnosis of sporadic Jakob-Creutzfeldt disease (sCJD); however, the neuropathological origin of DWI signal abnormalities including other clinical features have not been well-defined. We describe a case of sCJD with brain MRI taken 15 days prior to death, which provided an opportunity to correlate clinical, EEG, MRI and neuropathological findings in order to better understand which sCJD-specific neuropathological changes underlie the DWI abnormalities. Clinical findings correlated well with both EEG and MRI changes. Neuropathological analysis showed that hyperintensities on DWI MRI correlated best with the vacuolation score (r=0.78, p=0.0005) and PrPSc load (r=0.77; p=0.0006), followed by reactive astrocytic gliosis (r=0.63, p=0.008). This case provides further evidence that DWI abnormalities correlate well with the clinical features and with PrPSc accumulation and vacuolation. PMID:19266702

  5. Correlating DWI MRI with pathologic and other features of Jakob-Creutzfeldt disease.

    PubMed

    Geschwind, Michael D; Potter, Christopher A; Sattavat, Mamta; Garcia, Paul A; Rosen, Howard J; Miller, Bruce L; DeArmond, Stephen J

    2009-01-01

    Diffusion-weighted (DWI) magnetic resonance imaging (MRI) is a highly sensitive and specific test for diagnosis of sporadic Jakob-Creutzfeldt disease (sCJD); however, the neuropathologic origin of DWI signal abnormalities including other clinical features has not been well defined. We describe a case of sCJD with brain MRI taken 15 days before death, which provided an opportunity to correlate clinical, electroencephalogram, MRI, and neuropathologic findings to better understand which sCJD-specific neuropathologic changes underlie the DWI abnormalities. Clinical findings correlated well with both electroencephalogram and MRI changes. Neuropathologic analysis showed that hyperintensities on DWI MRI correlated best with the vacuolation score (r=0.78, P=0.0005) and PrP(Sc) load (r=0.77; P=0.0006), followed by reactive astrocytic gliosis (r=0.63, P=0.008). This case provides further evidence that DWI abnormalities correlate well with the clinical features and with PrP(Sc) accumulation and vacuolation.

  6. Hippocampal atrophy correlates with clinical features of Alzheimer disease in African Americans.

    PubMed

    Sencakova, D; Graff-Radford, N R; Willis, F B; Lucas, J A; Parfitt, F; Cha, R H; O'Brien, P C; Petersen, R C; Jack, C R

    2001-10-01

    Imaging measurements may aid in the characterization and diagnosis of patients with Alzheimer disease (AD). Most research studies, however, have been performed on predominantly white study groups despite the fact that there may be biological differences in AD between African American and white patients. To measure hippocampal volume in African American patients with AD and to correlate these measurements with the presence of AD and neuropsychological test performance. Survey study. Academic center. Fifty-four healthy African American subjects and 32 African American patients with AD were studied. Hippocampal volumes were measured in all subjects from magnetic resonance images using established methods. Correlations were assessed between hippocampal volume and demographic variables, clinical group membership, and neuropsychological performance. The hippocampi of patients were atrophic with respect to those of healthy subjects (P<.01). Significant direct correlations were present between hippocampal volumes and performance on several different neuropsychological tests (r>0.5 and P<.01 for every test evaluated) when patients and healthy subjects were combined. Hippocampal atrophy is a feature of AD in African Americans as it is in white subjects. The neuropsychological-hippocampal volume correlations indicate that hippocampal volume measurements do represent a measure of the structural substrate of functional impairment in AD.

  7. Serum cytokines correlated with the disease severity of generalized pustular psoriasis.

    PubMed

    Yamamoto, Masaaki; Imai, Yasutomo; Sakaguchi, Yoshiko; Haneda, Takashi; Yamanishi, Kiyofumi

    2013-01-01

    To characterize serum biomarkers reflecting the severity of generalized pustular psoriasis (GPP), we measured multiple cytokine/chemokine levels in 39 serum samples from 6 cases with GPP during the course of the disease. Serum levels of IL-4, IL-8, CXCL1 and CCL3 were positively correlated with the severity scores of GPP, white blood cell counts and serum C-reactive protein levels. Serum levels of IL-1β, IL-1ra, IL-6, IL-10, IL-12p70, IL-18, IL-22, IFN-γ and VEGF showed strong positive correlations (r>0.4, p<0.01) with all those 3 clinical markers. Of those, IL-10 and IL-22 were significantly decreased after treatment in parallel with the GPP score and therefore those two serum cytokines might be useful to evaluate the efficacy of treatment for GPP.

  8. Serum Cytokines Correlated with The Disease Severity of Generalized Pustular Psoriasis

    PubMed Central

    Yamamoto, Masaaki; Imai, Yasutomo; Sakaguchi, Yoshiko; Haneda, Takashi; Yamanishi, Kiyofumi

    2013-01-01

    To characterize serum biomarkers reflecting the severity of generalized pustular psoriasis (GPP), we measured multiple cytokine/chemokine levels in 39 serum samples from 6 cases with GPP during the course of the disease. Serum levels of IL-4, IL-8, CXCL1 and CCL3 were positively correlated with the severity scores of GPP, white blood cell counts and serum C-reactive protein levels. Serum levels of IL-1β, IL-1ra, IL-6, IL-10, IL-12p70, IL-18, IL-22, IFN-γ and VEGF showed strong positive correlations (r > 0.4, p < 0.01) with all those 3 clinical markers. Of those, IL-10 and IL-22 were significantly decreased after treatment in parallel with the GPP score and therefore those two serum cytokines might be useful to evaluate the efficacy of treatment for GPP. PMID:23334651

  9. Correlates of excessive daytime sleepiness in de novo Parkinson's disease: A case control study.

    PubMed

    Simuni, Tanya; Caspell-Garcia, Chelsea; Coffey, Christopher; Chahine, Lama M; Lasch, Shirley; Oertel, Wolfgang H; Mayer, Geert; Högl, Birgit; Postuma, Ron; Videnovic, Aleksandar; Amara, Amy Willis; Marek, Ken

    2015-09-01

    This study was undertaken to determine the frequency and correlates of excessive daytime sleepiness in de novo, untreated Parkinson's disease (PD) patients compared with the matched healthy controls. Data were obtained from the Parkinson's Progression Markers Initiative, an international study of de novo, untreated PD patients and healthy controls. At baseline, participants were assessed with a wide range of motor and nonmotor scales, including the Movement Disorder Society Unified Parkinson's Disease Rating Scale (MDS-UPDRS). Excessive daytime sleepiness was assessed based on the Epworth Sleepiness scale (ESS), with a cutoff of 10. Four hundred twenty-three PD subjects and 196 healthy controls were recruited into the study. Mean ESS (min, max) score was 5.8 (0, 20) for the PD subjects and 5.6 (0, 19) for healthy controls (P = 0.54). Sixty-six (15.6%) PD subjects and 24 (12%) healthy controls had ESS of at least 10 (P = 0.28). No difference was seen in demographic characteristics, age of onset, disease duration, PD subtype, cognitive status, or utilization of sedatives between the PD sleepiness-positive versus the negative group. The sleepiness-positive group had higher MDS-UPDRS Part I and II but not III scores, and higher depression and autonomic dysfunction scores. Sleepiness was associated with a marginal reduction of A-beta (P = 0.05) but not alpha-synuclein spinal fluid levels in PD. This largest case control study demonstrates no difference in prevalence of excessive sleepiness in subjects with de novo untreated PD compared with healthy controls. The only clinical correlates of sleepiness were mood and autonomic dysfunction. Ongoing longitudinal analyses will be essential to further examine clinical and biological correlates of sleepiness in PD and specifically the role of dopaminergic therapy. © 2015 International Parkinson and Movement Disorder Society.

  10. Correlates of Excessive Daytime Sleepiness in De Novo Parkinson's Disease: A Case Control Study

    PubMed Central

    Simuni, Tanya; Caspell-Garcia, Chelsea; Coffey, Christopher; Chahine, Lama M.; Lasch, Shirley; Oertel, Wolfgang H.; Mayer, Geert; Högl, Birgit; Postuma, Ron; Videnovic, Aleksandar; Amara, Amy Willis; Marek, Ken

    2016-01-01

    Objective This study was undertaken to determine the frequency and correlates of excessive daytime sleepiness in de novo, untreated Parkinson's disease (PD) patients compared with the matched healthy controls. Methods Data were obtained from the Parkinson's Progression Markers Initiative, an international study of de novo, untreated PD patients and healthy controls. At baseline, participants were assessed with a wide range of motor and nonmotor scales, including the Movement Disorder Society Unified Parkinson's Disease Rating Scale (MDS-UPDRS). Excessive daytime sleepiness was assessed based on the Epworth Sleepiness scale (ESS), with a cutoff of 10. Results Four hundred twenty-three PD subjects and 196 healthy controls were recruited into the study. Mean ESS (min, max) score was 5.8 (0, 20) for the PD subjects and 5.6 (0, 19) for healthy controls (P = 0.54). Sixty-six (15.6%) PD subjects and 24 (12%) healthy controls had ESS of at least 10 (P = 0.28). No difference was seen in demographic characteristics, age of onset, disease duration, PD subtype, cognitive status, or utilization of sedatives between the PD sleepiness-positive versus the negative group. The sleepiness-positive group had higher MDS-UPDRS Part I and II but not III scores, and higher depression and autonomic dysfunction scores. Sleepiness was associated with a marginal reduction of A-beta (P = 0.05) but not alpha-synuclein spinal fluid levels in PD. Conclusions This largest case control study demonstrates no difference in prevalence of excessive sleepiness in subjects with de novo untreated PD compared with healthy controls. The only clinical correlates of sleepiness were mood and autonomic dysfunction. Ongoing longitudinal analyses will be essential to further examine clinical and biological correlates of sleepiness in PD and specifically the role of dopaminergic therapy. PMID:26095202

  11. The Geomagnetic Field and Correlations with Multiple Sclerosis: A Possible Etiology of Disease

    NASA Astrophysics Data System (ADS)

    Wade, Brett

    Multiple sclerosis (MS) is a complex autoimmune disease that results in a demyelinating process of the central nervous system. It is the most common, progressive, neurological disease affecting young adults, and there is no cure. A curious feature of MS is its distinct global prevalence with high rates of occurrence between 40 and 60 degrees latitude. While genetics may partially explain this phenomenon, studies have shown that the influence of genetics is modest. Many non-genetic variables, such as viruses, vitamin D, smoking, diet, hormones, etc., have been shown to be related to the expression of MS but none of these variables have been determined to be necessarily strong enough to exclude other factors. The geomagnetic field, which is a non-uniform, three dimensional entity which protects all living things from ionizing radiation, is suggested in this research to be related to global MS prevalence. This study hypothesized that either the total field, the vertical field, or the horizontal field strength of the geomagnetic field will be correlated with MS. Using secondary sources of prevalence studies (N=131) and geomagnetic data, the results supported all three hypotheses with the strongest correlation being an inverse relationship between the horizontal field and MS (r = -.607). The explanation for the inverse relationship being most strongly correlated with MS prevalence is explained by the fact that the horizontal aspect of the geomagnetic field has a protective effect from incoming cosmic radiation. Chronic exposure to high levels of background radiation can have deleterious health effects. This research suggests that living in areas of a weak horizontal field increases a person's exposure to ionizing radiation and therefore increases the risk for developing MS. While it was not the intention of this research, it became clear that an explanation which explained the results of this research and also attempted to unify the mechanisms of all non

  12. Correlation of Alzheimer's disease death rates with historical per capita personal income in the USA.

    PubMed

    Stępkowski, Dariusz; Woźniak, Grażyna; Studnicki, Marcin

    2015-01-01

    Alzheimer's disease (AD) is a progressive degenerating disease of complex etiology. A variety of risk factors contribute to the chance of developing AD. Lifestyle factors, such as physical, mental and social activity, education, and diet all affect the susceptibility to developing AD. These factors are in turn related to the level of personal income. Lower income usually coincides with lower level of education, lesser mental, leisure-social and physical activity, and poorer diet. In the present paper, we have analyzed the correlation of historical (1929-2011) per capita personal income (PCPI) for all states of the USA with corresponding age-adjusted AD death rates (AADR) for years 2000, 2005 and 2008. We found negative correlations in all cases, the highest one (R ≈ -0.65) for the PCPIs in the year 1970 correlated against the AADRs in 2005. From 1929 to 2005 the R value varies in an oscillatory manner, with the strongest correlations in 1929, 1970, 1990 and the weakest in 1950, 1980, 1998. Further analysis indicated that this oscillatory behavior of R is not artificially related to the economic factors but rather to delayed biological consequences associated with personal income. We conclude that the influence of the income level on the AD mortality in 2005 was the highest in the early years of life of the AD victims. Overall, the income had a significant, lifelong, albeit constantly decreasing, influence on the risk of developing AD. We postulate that the susceptibility of a population to late-onset AD (LOAD) is determined to a large extent by the history of income-related modifiable lifestyle risk factors. Among these risk factors, inappropriate diet has a significant contribution.

  13. PET/CT enterography in Crohn disease: correlation of disease activity on CT enterography with 18F-FDG uptake.

    PubMed

    Groshar, David; Bernstine, Hanna; Stern, Dorit; Sosna, Jacob; Eligalashvili, Merab; Gurbuz, Evren G; Niv, Yaron; Fraser, Gerald

    2010-07-01

    We combined (18)F-FDG PET and CT enterography in a single examination and compared the level of (18)F-FDG uptake measured by maximal standardized uptake value (SUVmax) with the CT enterography patterns of disease activity found in patients with Crohn disease (CD). Twenty-eight patients (mean age, 37.5 y; 11 male and 17 female) suspected of having active CD underwent PET/CT enterography. Abnormal bowel segments recognized on CT enterography were graded qualitatively for the presence of perienteric fat infiltration, the comb sign, and intramural attenuation and by quantitative measurements of mural enhancement (Hounsfield units) and thickness (mm). Also, for each patient, normal segments of the ileum and colon were noted, and CT enterography measurements of thickness and enhancement were obtained. For segments detected on CT enterography, a volume of interest was placed on the fused (18)F-FDG PET scan, and the SUVmax was obtained. Of the 28 patients with suspected active CD, 22 had 85 abnormal segments and 6 had no abnormal segments. SUVmax was significantly higher in the abnormal segments than in the normal segments (5.0 +/- 2.5 [95% confidence interval, 4.5-5.5] and 2.1 +/- 0.69 [95% confidence interval, 1.9-2.2], respectively; P < 0.0001). A good correlation was found between SUVmax with CT enterography measurements of mural thickness and enhancement (P < 0.00001). There was a significant difference in SUVmax between the 3 levels of disease activity found by intramural attenuation, perienteric fat infiltration, and the comb sign on CT enterography. SUVmax was significantly higher when there were intense CT enterography findings of active disease (P < 0.001). SUVmax assessment may allow an objective, reliable indication of the grade and severity of inflammation activity in abnormal segments of the bowel detected by CT enterography.

  14. Appearance of monoclonal plasma cell diseases in whole-body magnetic resonance imaging and correlation with parameters of disease activity.

    PubMed

    Kloth, Jost K; Hillengass, Jens; Listl, Karin; Kilk, Kerstin; Hielscher, Thomas; Landgren, Ola; Delorme, Stefan; Goldschmidt, Hartmut; Kauczor, Hans-Ulrich; Weber, Marc-André

    2014-11-15

    The aim of our study was to assess in which way different infiltration patterns of monoclonal plasma cell diseases in whole-body (wb) magnetic resonance imaging (MRI) are associated with clinical stages, plasma cell content in bone marrow samples and established serum markers of disease activity. Institutional review board approval was obtained. We performed wb-MRI in 547 consecutive, unselected and untreated patients with monoclonal gammopathy of undetermined significance (MGUS, n=138), smoldering myeloma (SMM, n=157) and multiple myeloma (MM, n=252) on two 1.5 T MRI-scanners with body array coils. The studies were evaluated in consensus by two experienced radiologists blinded to the diagnosis. We observed focal lesions in 23.9% (MGUS), 34.4% (SMM) and 81.3% (MM), respectively. A diffuse infiltration pattern was detected in 38.4%, 45.9% and 71%, respectively. The differences between all infiltration patterns were significant (p<0.0001). The presence of focal lesions and the presence of a diffuse bone marrow infiltration was associated with an increased plasma cell percentage in bone marrow samples (median 22% vs. 14%, 26% vs. 10%, both p<0.0001) and monoclonal protein concentration (median 18 g/dl vs. 13 g/dl, p=0.003, 20 g/dl vs. 11 g/dl, p<0.0001). Further categorization of the diffuse infiltration patterns in wb-MRI into "salt-and-pepper," moderate and severe identified significant associations with M-protein (median g/dl for S+P/moderate/severe 23/18/25, p=0.04), plasma cell percentage in the bone marrow (median 25%/24%/40%, p=0.02), and age (median years 67/60/57, p<0.0001). Bone marrow infiltration in wb-MRI is significantly different between the various stages of plasma cell disease and correlates well with established markers of disease activity.

  15. [Correlation analysis of serum calcium level and cognition in the patients with Parkinson's disease].

    PubMed

    Liu, J; Zhou, X P; Zhang, L; Zhang, Q; Liu, C F; Luo, W F

    2016-11-08

    Objective: To investigate the relation between cognition and serum calcium in the patients with Parkinson's disease (PD), analyze the related factors of cognition, and evaluate the correlation of serum calcium with specific cognitive domains. Methods: A total of 77 patients with Parkinson's disease who was hospitalized in the Second Affiliated Hospital of Soochow University, from Dce 2013 to May 2015 were subjected to the cognitive, motor and depression function assessment, and the fasting blood calcium samples were collected from the PD patients and 75 normal control subjects. According to cognitive function, PD patients were divided into dementia group and without dementia group. Then the serum calcium levels of three groups and the related factors of the cognitive were analyzed by multiple linear regression. Results: (1) The level of serum calcium in PD group with dementia (2.21±0.09) mmol/L was significantly lower than the normal control group (2.30±0.09)mmol/L (P<0.001), and there was no difference between the level of serum calcium in PD group without dementia (2.27±0.13 mmol/L) and normal control group (P=0.144). The level of serum calcium in PD group with dementia was lower than PD group without dementia, and there was marked statistical significance (P=0.023). (2) In PD patients, the cognitive scores correlated with serum calcium levels, education, H-Y stages and Unified Parkinson's Disease Rating Scale (UPDRS) Ⅲ scores (P<0.05), but didn't with gender, age, disease duration, depression levels, Body Mass Index (BMI) and total equivalent levodopa doses (P>0.05). (3) In PD patients, serum calcium level correlated with the visuospatial and executive capability, calculation ability, language ability (P1=0.004; P2=0.027; P3=0.021). Conclusions: (1) There is correlation between the serum calcium and the cognitive impairment. Lower serum calcium level predicts worse cognitive scores. (2) In PD patients, the change of the cognitive function is affected by

  16. Computed tomography, lymphography, and staging laparotomy: correlations in initial staging of Hodgkin disease

    SciTech Connect

    Castellino, R.A.; Hoppe, R.T.; Blank, N.; Young, S.W.; Neumann, C.; Rosenberg, S.A.; Kaplan, H.S.

    1984-07-01

    One hundred twenty-one patients with newly diagnosed, previously untreated Hodgkin disease underwent abdominal and pelvic computed tomographic (CT) scanning and bipedal lymphography. These studies were followed by staging laparotomy, which included biopsy of the liver, retroperitoneal and mesenteric lymph nodes, and splenectomy. Correlation of the results of the imaging studies with the histopathologic diagnoses revealed a small - but significant - increased accuracy of lymphography compared with CT in assessing the retroperitoneal lymph nodes. The theoretical advantages of CT scanning in detecting lymphomatous deposits in lymph nodes about the celiac axis and the mesentery, or in the liver and spleen, were not confirmed.

  17. Homovanillic acid in CSF of mild stage Parkinson's disease patients correlates with motor impairment.

    PubMed

    Stefani, Alessandro; Pierantozzi, Mariangela; Olivola, Enrica; Galati, Salvatore; Cerroni, Rocco; D'Angelo, Vincenza; Hainsworth, Atticus H; Saviozzi, Valentina; Fedele, Ernesto; Liguori, Claudio

    2017-05-01

    In Parkinson's disease (PD), several efforts have been spent in order to find biochemical parameters able to identify the progression of the pathological processes at the basis of the disease. It is already known that advanced PD patients manifesting dyskinesia are featured by the high homovanillic acid (HVA)/dopamine (DA) ratio, suggesting the increased turnover of DA in these patients. Less clear is whether similar changes affect mild and moderate stages of the disease (between 1 and 2.5 of Hoehn & Yahr -H&Y- stage). Hence, here we tested whether cerebrospinal fluid (CSF) concentrations of DA and its major metabolites, either 3,4-dihydroxyphenylacetic acid (DOPAC) or HVA, correlate with motor performance in mild and moderate PD patients. CSF samples were collected after 2 days of anti-PD drugs washout, via lumbar puncture (LP) performed 130 min following administration of oral levodopa (LD) dose (200 mg). LP timing was determined in light of our previous tests clarifying that 2 h after oral LD administration CSF DA concentration reaches a plateau, which was un-respective of PD stage or duration. DA, DOPAC and HVA were assayed by high performance liquid chromatography in a group of 19 patients, distributed in two groups on the basis of the H&Y stage with a cut-off of 1.5. In these PD patients, HVA was correlated with DOPAC (R = 0,56, p < 0,01) and both HVA and DOPAC CSF levels increased in parallel with the motor impairment. More importantly, HVA correlated with motor impairment measured by the Unified Parkinson's Disease Score -III (UPDRS) (R = 0.61; p < 0.0001). The present findings showed the early alteration of the DA pre-synaptic machinery, as documented by the progressive increase of CSF HVA concentrations, which also correlated with PD motor impairment. Therefore, we suggest the potential use of measuring the CSF HVA level as a possible biomarker of PD stage changes in order to monitor the effectiveness of PD-modifying pharmacological therapies.

  18. Complement Activation Correlates With Disease Severity and Contributes to Cytokine Responses in Plasmodium falciparum Malaria.

    PubMed

    Berg, Aase; Otterdal, Kari; Patel, Sam; Gonca, Miguel; David, Catarina; Dalen, Ingvild; Nymo, Stig; Nilsson, Margareta; Nordling, Sofia; Magnusson, Peetra U; Ueland, Thor; Prato, Mauro; Giribaldi, Giuliana; Mollnes, Tom Eirik; Aukrust, Pål; Langeland, Nina; Nilsson, Per H

    2015-12-01

    The impact of complement activation and its possible relation to cytokine responses during malaria pathology was investigated in plasma samples from patients with confirmed Plasmodium falciparum malaria and in human whole-blood specimens stimulated with malaria-relevant agents ex vivo. Complement was significantly activated in the malaria cohort, compared with healthy controls, and was positively correlated with disease severity and with certain cytokines, in particular interleukin 8 (IL-8)/CXCL8. This was confirmed in ex vivo-stimulated blood specimens, in which complement inhibition significantly reduced IL-8/CXCL8 release. P. falciparum malaria is associated with systemic complement activation and complement-dependent release of inflammatory cytokines, of which IL-8/CXCL8 is particularly prominent. © The Author 2015. 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.

  19. Correlation of mast cells in different stages of human periodontal diseases: Pilot study

    PubMed Central

    Agrawal, Raina; Gupta, Jagriti; Gupta, Krishna Kumar; Kumar, Vinod

    2016-01-01

    Aims and Objectives: The aim of this study was to evaluate and correlate the relationship between mast cells counts and different stages of human periodontal diseases. Materials and Methods: The study sample comprised 50 patients, which were divided into three groups, consisting of 10 cases of clinically healthy gingival tissues (control group) 20 cases of dental plaque-induced gingivitis with no attachment loss and 20 cases of localized chronic periodontitis (LCP) characterized by the loss of periodontal support. The samples for control group were obtained during tooth extractions for orthodontic reasons. The specimens were immediately fixed in 10% neutral buffered formalin. Conclusion: In this study, LCP cases had higher mast cell counts compared to gingivitis sites or healthy tissues. Increased mast cell counts in the progressing sites of periodontal diseases may indicate the importance of these cells in the progression of chronic periodontitis. PMID:27194868

  20. Radiotherapy as a cause of complete atrioventricular block in Hodgkin's disease: an electrophysiological-pathological correlation

    SciTech Connect

    Cohen, S.I.; Bharati, S.; Glass, J.; Lev, M.

    1981-04-01

    A 20-year-old man contracted Hodgkin's disease and was treated with mantle radiotherapy. Heart block developed 11 years later. Electrocardiograms revealed predominant atrioventricular (AV) block and occasional AV conduction. Intracardiac electrograms demonstrated that the site of AV block was above the level of the His bundle. A permanent transvenous pacemaker was implanted. Seven months later the patient died of complications from cryptococcal meningitis. Pathological study of the heart revealed marked arteriosclerosis with fibrosis of the epicardium, myocardium, and endocardium. Examination of the conduction system revealed extensive arteriolosclerosis of the sinoatrial node and its approaches. In addition, there was marked fibrosis of the approaches to the AV node, the AV bundle, and both bundle branches. There was no evidence of Hodgkin's disease. This case documents the rare occurrence of AV block due to tissue destruction by radiotherapy. There was a good correlation between block proximal to the His bundle recording site and fibrosis of the approaches to the AV node.

  1. Radiotherapy as a cause of complete atrioventricular block in Hodgkin's disease. An electrophysiological-pathological correlation

    SciTech Connect

    Cohen, S.I.; Bharati, S.; Glass, J.; Lev, M.

    1981-04-01

    A 20-year-old man contracted Hodgkin's disease and was treated with mantle radiotherapy. Heart block developed 11 years later. Electrocardiograms revealed predominant atrioventricular (AV) block and occasional AV conduction. Intracardiac electrograms demonstrated that the site of AV block was above the level of the His bundle. A permanent transvenous pacemaker was implanted. Seven months later the patient died of complications from cryptococcal meningitis. Pathological study of the heart revealed marked arteriosclerosis with fibrosis of the epicardium, myocardium, and endocardium. Examination of the conduction system revealed extensive arteriolosclerosis of the sinoatrial node and its approaches. In addition, there was marked fibrosis of the approaches to the AV node, the AV bundle, and both bundle branches. There was no evidence of Hodgkin's disease. This case documents the rare occurrence of AV block due to tissue destruction by radiotherapy. There was a good correlation between block proximal to the His bundle recording site and fibrosis of the approaches to the AV node.

  2. Hippocampal phospho-tau/MAPT neuropathology in the fornix in Alzheimer disease: an immunohistochemical autopsy study.

    PubMed

    Plowey, Edward D; Ziskin, Jennifer L

    2016-10-28

    -MAPT progression from the hippocampal formation and underscore a need for additional clinical-radiologic-pathologic correlation studies.

  3. Downregulation of ASPP1 in gestational trophoblastic disease: correlation with hypermethylation, apoptotic activity and clinical outcome.

    PubMed

    Mak, Victor C Y; Lee, Lee; Siu, Michelle K Y; Wong, Oscar G W; Lu, Xin; Ngan, Hextan Y S; Wong, Esther S Y; Cheung, Annie N Y

    2011-04-01

    Gestational trophoblastic disease encompasses a spectrum of trophoblastic lesions including true neoplasms such as choriocarcinomas and the potentially malignant hydatidiform moles, which may develop persistent disease requiring chemotherapy. ASPP1, a member of apoptosis-stimulating proteins of p53 (ASPPs), is a proapoptotic protein that can stimulate apoptosis through its interaction with p53. We evaluated the promoter methylation and expression profiles of ASPP1 in different trophoblastic tissues and its in vitro functional effect on two choriocarcinoma cell lines, namely JEG-3 and JAR. Significant downregulation of ASPP1 mRNA and protein levels was demonstrated in hydatidiform moles and choriocarcinomas, when compared with normal placentas by quantitative-PCR and immunohistochemistry. The ASPP1 mRNA level was significantly correlated with its hypermethylation status, evaluated with methylation-specific PCR, in placenta and gestational trophoblastic disease samples (P=0.024). Moreover, lower ASPP1 immunoreactivity was shown in hydatidiform moles that progressed to persistent gestational trophoblastic neoplasms than in those that regressed (P=0.045). A significant correlation was also found between expression of ASPP1 and proliferative indices (assessed by Ki67 and MCM7), apoptotic activity (M30 CytoDeath antibody), p53 and caspase-8 immunoreactivities. An in vitro study showed that ectopic expression of ASPP1 could trigger apoptosis through intrinsic and extrinsic pathways as indicated by an increase in cleaved caspase-9 and Fas ligand protein expression. The latter suggests a hitherto unreported novel link between ASPP1 and the extrinsic pathway of apoptosis. Our findings suggest that downregulation of ASPP1 by hypermethylation may be involved in the pathogenesis and progress of gestational trophoblastic disease, probably through its effect on apoptosis.

  4. Prevalence and Correlates of Insomnia and Obstructive Sleep Apnea in Chronic Kidney Disease

    PubMed Central

    Ahmad, Shahbaj; Gupta, Manan; Gupta, Ravi; Dhyani, Mohan

    2013-01-01

    Background: Poor sleep quality, insomnia, and restless legs syndrome (RLS) and sleep apnea are common in patients with chronic kidney disease (CKD). Clinical correlates of these problems are poorly understood. Aims: This study was to find out the prevalence and correlates of insomnia and subjects with ‘high risk for obstructive sleep apnea (OSA)’ in adults with chronic kidney disease. Materials and Methods: One hundred and four adults with CKD were included. Their demographic data, details regarding kidney disease and hemodialysis (HD) were recorded. Presence of insomnia and its severity was assessed. They were screened for sleep apnea using a validated questionnaire. Results: Average age was 54.17 (± 12.96) years. 89.4% had stage 5 nephropathy and 78.8% subjects were on regular HD. Males outnumbered females. Insomnia was reported by 35.5%. Among these, 50% had chronic insomnia. Insomnia subjects had higher prevalence of diabetes (P = 0.01) and depression (P < 0.001). Fifty-one percent subjects were at “high risk for sleep apnea”. They had higher prevalence of diabetes (P < 0.001), coronary disease (P = 0.02), insomnia (P = 0.008), and experienced daytime symptoms of insomnia (P < 0.001). However, in the logistic regression, only male gender (odds ratio, OR = 13.59) and daytime symptoms of insomnia (OR = 7.34) were found to be associated with “higher risk for sleep apnea”. Conclusion: Insomnia was prevalent in CKD. Nearly half of these patients are at high risk for sleep apnea and a third of them suffer from insomnia. Hence, these patients should be screened for sleep disorders. PMID:24404542

  5. Periostin levels correlate with disease severity and chronicity in patients with atopic dermatitis.

    PubMed

    Kou, K; Okawa, T; Yamaguchi, Y; Ono, J; Inoue, Y; Kohno, M; Matsukura, S; Kambara, T; Ohta, S; Izuhara, K; Aihara, M

    2014-08-01

    Recent findings indicate that periostin, an extracellular matrix protein induced by T helper 2 cytokines, plays a critical role in the pathogenesis of atopic dermatitis (AD). To determine whether serum periostin level is associated with clinical phenotype in adult patients with AD. An enzyme-linked immunosorbent assay was performed to determine serum periostin levels in 257 adult patients with AD, 66 patients with psoriasis vulgaris (PV) as a disease control and 25 healthy controls. Serum periostin levels were analysed together with clinical characteristics and laboratory parameters, including thymus and activation-regulated chemokine (TARC), lactate dehydrogenase (LDH), blood eosinophil count and total IgE. Immunohistochemical analysis evaluated the expression of periostin in association with various clinical phenotypes of AD. The effect of treatment on serum periostin level was also assessed. Serum periostin was significantly higher in patients with AD than in patients with PV and healthy controls. Periostin level was found to be positively correlated with disease severity, TARC level, LDH level and eosinophil count, but not with IgE level. Higher serum periostin level was observed in patients with extrinsic AD compared with patients with intrinsic AD; the positive correlation of disease severity disappeared in patients with intrinsic AD. Robust expression of periostin was detected in the dermis of patients with AD with erythroderma, lichenification and, to a lesser extent, scaly erythema. Serial measurement of serum periostin revealed decreased levels of periostin after treatment for AD. Periostin may play a critical role in disease severity and chronicity in the pathogenesis of AD. © 2014 British Association of Dermatologists.

  6. Correlation between arterial FDG uptake and biomarkers in peripheral artery disease.

    PubMed

    Myers, Kelly S; Rudd, James H F; Hailman, Eric P; Bolognese, James A; Burke, Joanne; Pinto, Cathy Anne; Klimas, Michael; Hargreaves, Richard; Dansky, Hayes M; Fayad, Zahi A

    2012-01-01

    A prospective, multicenter (18)fluorine-fluorodeoxyglucose ((18)F-FDG) positron emission tomography (PET)/computed tomography (CT) imaging study was performed to estimate the correlations among arterial FDG uptake and atherosclerotic plaque biomarkers in patients with peripheral artery disease. Inflammation within atherosclerotic plaques is associated with instability of the plaque and future cardiovascular events. Previous studies have shown that (18)F-FDG-PET/CT is able to quantify inflammation within carotid artery atherosclerotic plaques, but no studies to date have investigated this correlation in peripheral arteries with immunohistochemical confirmation. Thirty patients across 5 study sites underwent (18)F-FDG-PET/CT imaging before SilverHawk atherectomy (FoxHollow Technologies, Redwood City, California) for symptomatic common or superficial femoral arterial disease. Vascular FDG uptake (expressed as target-to-background ratio) was measured in the carotid arteries and aorta and femoral arteries, including the region of atherectomy. Immunohistochemistry was performed on the excised atherosclerotic plaque extracts, and cluster of differentiation 68 (CD68) level as a measure of macrophage content was determined. Correlations between target-to-background ratio of excised lesions, as well as entire arterial regions, and CD68 levels were determined. Imaging was performed during the 2 weeks before surgery in all cases. Twenty-one patients had adequate-quality (18)F-FDG-PET/CT peripheral artery images, and 34 plaque specimens were obtained. No significant correlation between lesion target-to-background ratio and CD68 level was observed. There were no significant correlations between CD68 level (as a measure of macrophage content) and FDG uptake in the peripheral arteries in this multicenter study. Differences in lesion extraction technique, lesion size, the degree of inflammation, and imaging coregistration techniques may have been responsible for the failure to

  7. Pediatric Small Bowel Crohn Disease: Correlation of US and MR Enterography

    PubMed Central

    Smith, Ethan A.; Sanchez, Ramon J.; DiPietro, Michael A.; DeMatos-Maillard, Vera; Strouse, Peter J.; Darge, Kassa

    2015-01-01

    Small bowel Crohn disease is commonly diagnosed during the pediatric period, and recent investigations show that its incidence is increasing in this age group. Diagnosis and follow-up of this condition are commonly based on a combination of patient history and physical examination, disease activity surveys, laboratory assessment, and endoscopy with biopsy, but imaging also plays a central role. Ultrasonography (US) is an underutilized well-tolerated imaging modality for screening and follow-up of small bowel Crohn disease in children and adolescents. US has numerous advantages over computed tomographic (CT) enterography and magnetic resonance (MR) enterography, including low cost and no required use of oral or intravenous contrast material. US also has the potential to provide images with higher spatial resolution than those obtained at CT enterography and MR enterography, allows faster examination than does MR enterography, does not involve ionizing radiation, and does not require sedation or general anesthesia. US accurately depicts small bowel and mesenteric changes related to pediatric Crohn disease, and US findings show a high correlation with MR imaging findings in this patient population. ©RSNA, 2015 PMID:25839736

  8. Metallothionein-1 and nitric oxide expression are inversely correlated in a murine model of Chagas disease

    PubMed Central

    Gonzalez-Mejia, Martha Elba; Torres-Rasgado, Enrique; Porchia, Leonardo M; Salgado, Hilda Rosas; Totolhua, José-Luis; Ortega, Arturo; Hernández-Kelly, Luisa Clara Regina; Ruiz-Vivanco, Guadalupe; Báez-Duarte, Blanca G; Pérez-Fuentes, Ricardo

    2014-01-01

    Chagas disease, caused by Trypanosoma cruzi, represents an endemic among Latin America countries. The participation of free radicals, especially nitric oxide (NO), has been demonstrated in the pathophysiology of seropositive individuals with T. cruzi. In Chagas disease, increased NO contributes to the development of cardiomyopathy and megacolon. Metallothioneins (MTs) are efficient free radicals scavengers of NO in vitro and in vivo. Here, we developed a murine model of the chronic phase of Chagas disease using endemic T. cruzi RyCH1 in BALB/c mice, which were divided into four groups: infected non-treated (Inf), infected N-monomethyl-L-arginine treated (Inf L-NAME), non-infected L-NAME treated and non-infected vehicle-treated. We determined blood parasitaemia and NO levels, the extent of parasite nests in tissues and liver MT-I expression levels. It was observed that NO levels were increasing in Inf mice in a time-dependent manner. Inf L-NAME mice had fewer T. cruzi nests in cardiac and skeletal muscle with decreased blood NO levels at day 135 post infection. This affect was negatively correlated with an increase of MT-I expression (r = -0.8462, p < 0.0001). In conclusion, we determined that in Chagas disease, an unknown inhibitory mechanism reduces MT-I expression, allowing augmented NO levels. PMID:24676665

  9. Small bowel adenocarcinoma in Crohn disease: CT-enterography features with pathological correlation.

    PubMed

    Soyer, Philippe; Hristova, Lora; Boudghène, Frank; Hoeffel, Christine; Dray, Xavier; Laurent, Valérie; Fishman, Elliot K; Boudiaf, Mourad

    2012-06-01

    The aim of this study was to analyze the clinical, pathological, and CT-enterography findings of small bowel adenocarcinomas in Crohn disease patients. Clinical, histopathological, and imaging findings were retrospectively evaluated in seven Crohn disease patients with small bowel adenocarcinoma. CT-enterography examinations were reviewed for morphologic features and location of tumor, presence of stratification, luminal stenosis, proximal dilatation, adjacent lymph nodes, and correlated with findings at histological examination. The tumor was located in the terminal (n = 6) or distal (n = 1) ileum. On CT-enterography, the tumor was visible in five patients, whereas two patients had no visible tumor. Four different patterns were individualized including small bowel mass (n = 2), long stenosis with heterogeneous submucosal layer (n = 2), short and severe stenosis with proximal small bowel dilatation (n = 2), and sacculated small bowel loop with irregular and asymmetric circumferential thickening (n = 1). Stratification, fat stranding, and comb sign were present in two, two, and one patients, respectively. Identification of a mass being clearly visible suggests strongly the presence of small bowel adenocarcinoma in Crohn disease patients but adenocarcinoma may be completely indistinguishable from benign fibrotic or acute inflammatory stricture. Knowledge of these findings is critical to help suggest the diagnosis of this rare but severe complication of Crohn disease.

  10. Pediatric Small Bowel Crohn Disease: Correlation of US and MR Enterography.

    PubMed

    Dillman, Jonathan R; Smith, Ethan A; Sanchez, Ramon J; DiPietro, Michael A; DeMatos-Maillard, Vera; Strouse, Peter J; Darge, Kassa

    2015-01-01

    Small bowel Crohn disease is commonly diagnosed during the pediatric period, and recent investigations show that its incidence is increasing in this age group. Diagnosis and follow-up of this condition are commonly based on a combination of patient history and physical examination, disease activity surveys, laboratory assessment, and endoscopy with biopsy, but imaging also plays a central role. Ultrasonography (US) is an underutilized well-tolerated imaging modality for screening and follow-up of small bowel Crohn disease in children and adolescents. US has numerous advantages over computed tomographic (CT) enterography and magnetic resonance (MR) enterography, including low cost and no required use of oral or intravenous contrast material. US also has the potential to provide images with higher spatial resolution than those obtained at CT enterography and MR enterography, allows faster examination than does MR enterography, does not involve ionizing radiation, and does not require sedation or general anesthesia. US accurately depicts small bowel and mesenteric changes related to pediatric Crohn disease, and US findings show a high correlation with MR imaging findings in this patient population. (©)RSNA, 2015.

  11. Rainbow trout (Oncorhynchus mykiss) resistance to columnaris disease is heritable and favorably correlated with bacterial cold water disease resistance.

    PubMed

    Evenhuis, J P; Leeds, T D; Marancik, D P; LaPatra, S E; Wiens, G D

    2015-04-01

    Columnaris disease (CD), caused by Flavobacterium columnare, is an emerging disease affecting rainbow trout aquaculture. Objectives of this study were to 1) estimate heritability of CD resistance in a rainbow trout line (ARS-Fp-R) previously selected 4 generations for improved bacterial cold water disease (BCWD) resistance; 2) estimate genetic correlations among CD resistance, BCWD resistance, and growth to market BW; and 3) compare CD resistance among the ARS-Fp-R, ARS-Fp-S (selected 1 generation for increased BCWD susceptibility), and ARS-Fp-C (selection control) lines. Heritability of CD resistance was estimated using data from a waterborne challenge of 44 full-sib ARS-Fp-R families produced using a paternal half-sib mating design, and genetic correlations were estimated using these data and 5 generations of BCWD resistance, 9-mo BW (approximately 0.5 kg), and 12-mo BW (approximately 1.0 kg) data from 405 ARS-Fp-R full-sib families. The CD and BCWD challenges were initiated at approximately 52 and 84 d posthatch, or approximately 650 and 1,050 degree days (°C × d), respectively. Survival of ARS-Fp-R families ranged from 0 to 48% following CD challenge and heritability estimates were similar between CD (0.17 ± 0.09) and BCWD (0.18 ± 0.03) resistance, and the genetic correlation between these 2 traits was favorable (0.35 ± 0.25). Genetic correlations were small and antagonistic (-0.15 ± 0.08 to -0.19 ± 0.24) between the 2 resistance traits and 9- and 12-mo BW. Two challenges were conducted in consecutive years to compare CD resistance among ARS-Fp-R, ARS-Fp-C, and ARS-Fp-S families. In the first challenge, ARS-Fp-R families (83% survival) had greater CD resistance than ARS-Fp-C (73.5%; P = 0.02) and ARS-Fp-S (68%; P < 0.001) families, which did not differ (P = 0.16). In the second challenge, using an approximately 2.5-fold greater challenge dose, ARS-Fp-R families exhibited greater CD resistance (56% survival) than ARS-Fp-S (38% survival; P = 0.02) families

  12. Late-onset Tay-Sachs disease: phenotypic characterization and genotypic correlations in 21 affected patients.

    PubMed

    Neudorfer, Orit; Pastores, Gregory M; Zeng, Bai J; Gianutsos, John; Zaroff, Charles M; Kolodny, Edwin H

    2005-02-01

    The purpose of this study was to describe the phenotype (and corresponding genotype) of adult patients with late-onset Tay-Sachs disease, a clinical variant of the GM2-gangliosidoses. A comprehensive physical examination, including neurological assessments, was performed to establish the current disease pattern and severity. In addition, the patients' past medical histories were reviewed. The patients' alpha-subunit mutations (beta-Hexosaminidase A genotype) were determined and correlated with their corresponding clinical findings and disease course. Twenty-one patients (current mean age: 27.0 years; range: 14-47 years) were identified. The pedigree revealed a relative with the "classic" infantile or late-onset form of Tay-Sachs disease in four (out of 18) unrelated families. The patients were predominantly male (15/21 individuals) and of Ashkenazi Jewish ancestry (15/18 families). Mean age at onset was 18.1 years; balance problems and difficulty climbing stairs were the most frequent presenting complaints. In several cases, the diagnosis was delayed (mean age at diagnosis: 27.0 years). Analysis of the beta-hex A gene revealed the G269S mutation as the most common disease allele; found in homozygosity (N = 1) or heterozygosity (N = 18; including 2 sib pairs). Disease onset (age 36 years) was delayed and progression relatively slower in the homozygous G269S patient. Two siblings (ages 28 and 31 years), of non-Jewish ancestry, were compound heterozygotes (TATC1278/W474C); their clinical course is dominated by psychiatric problems. Brain imaging studies revealed marked cerebellar atrophy in all patients (N = 18) tested, regardless of disease stage. Late-onset Tay-Sachs disease is an infrequent disorder and the diagnosis is often missed or delayed (by approximately 8 years). Early on, the majority of patients develop signs of either cerebellar or anterior motor neuron involvement. Affected individuals may also develop psychotic episodes. In most cases, the later

  13. [Correlation between long-term proton pump ingibitor use, homocysteine and lipoproteins serum concentrations in patients with comorbidity of ischemic heart disease and acid peptic disease].

    PubMed

    Zharkova, A; Orlovsky, V

    2012-12-01

    Present article is devoted to the study of the correlation between vitamin B12 serum level, hyperhomocysteinaemia and dyslipidemia. During research there were discovered that the lowest vitamin B12 serum level and the highest homocysteine serum level have been registrated in associated pathology (ischemic heart disease and acid peptic disease according to long-term proton pump inhibitor use) patients. It was shown evident correlation between that changes and dyslipidemia. Тhe complex therapy that includes parenteral B12 supplementation leads to more effective correction of hyperhomocysteinaemia and dyslipidemia in patients with comorbidity of ischemic heart disease and acid peptic disease with long-term use of proton pump inhibitors.

  14. New global map of Crohn's disease: Genetic, environmental, and socioeconomic correlations.

    PubMed

    Economou, Michael; Pappas, Georgios

    2008-05-01

    Seventy-five years after the initial characterization of Crohn's disease (CD), much remains obscure about its etiology. The authors sought to evaluate the incidence trends of the last 25 years worldwide, and the existence of potential correlations with genetic, environmental, and socioeconomic factors that could be etiologically implicated in the pathogenesis of CD. Relevant medical literature for individual countries on the incidence of CD, on the incidence of associated genetic mutations, and on the incidence of suggested etiologic infectious agents such as Mycobacterium avium paratuberculosis were retrieved from published medical literature, reports from relevant international congresses, and through official reports from national health authorities. Increasing trends have been observed almost worldwide, with a broad north-south gradient still prevailing in Europe. Distinct regions of New Zealand, Canada, Scotland, France, the Netherlands, and Scandinavia represent the highest incidence areas. Industrialized status and affluence are the common denominators between endemic areas, but are too broad as terms to strongly indicate any particular etiological role. The increasing trends observed in Asia still account for a low prevalence of the disease and may represent increased detection and diagnostic ability of local health systems. Genetic associations are variably reproduced worldwide, in a manner inconsistent with a strong etiologic relationship. Data on paratuberculosis incidence are scarce, and the existing ones are ambivalent regarding an even indirect correlation between CD and an infectious trigger.

  15. Clustering of risk factors for noncommunicable diseases in Brazilian adolescents: prevalence and correlates.

    PubMed

    Cureau, Felipe Vogt; Duarte, Paola; dos Santos, Daniela Lopes; Reichert, Felipe Fossati

    2014-07-01

    Few studies have investigated the prevalence and correlates of risk factors for noncommunicable diseases among Brazilian adolescents. We evaluated the clustering of risk factors and their associations with sociodemographic variables. We used a cross-sectional study carried out in 2011 comprising 1132 students aged 14-19 years from Santa Maria, Brazil. The cluster index was created as the sum of the risk factors. For the correlates analysis, a multinomial logistic regression was used. Furthermore, the observed/expected ratio was calculated. Prevalence of individual risk factors studied was as follows: 85.8% unhealthy diets, 53.5% physical inactivity, 31.3% elevated blood pressure, 23.9% overweight, 22.3% excessive drinking alcohol, and 8.6% smoking. Only 2.8% of the adolescents did not present any risk factor, while 21.7%, 40.9%, 23.1%, and 11.5% presented 1, 2, 3, and 4 or more risk factors, respectively. The most prevalent combination was between unhealthy diets and physical inactivity (observed/expected ratio =1.32; 95% CI: 1.16-1.49). Clustering of risk factors was directly associated with age and inversely associated with socioeconomic status. Clustering of risk factors for noncommunicable diseases is high in Brazilian adolescents. Preventive strategies are more likely to be successful if focusing on multiple risk factors, instead of a single one.

  16. Brain metabolic correlates of fatigue in Parkinson's disease: A PET study.

    PubMed

    Zhang, Li; Li, Tiannv; Yuan, Yongsheng; Tong, Qing; Jiang, Siming; Wang, Min; Wang, Jianwei; Ding, Jian; Xu, Qinrong; Zhang, Kezhong

    2017-09-18

    The neural bases of fatigue in Parkinson's disease (PD) remain uncertain. We aimed to assess the brain metabolic correlates of fatigue in patients with PD. Twenty-seven PD patients without clinically relevant depression (17-item Hamilton Depression Rating Scale [HAMD] score ≥ 14), apathy (Apathy Scale [AS] score ≥ 14) and excessive daytime somnolence (Epworth Sleepiness Scale [ESS] score ≥ 10) were evaluated with Fatigue Severity Scale (FSS). Each patient had an F-18 fluorodeoxyglucose PET (FDG-PET) scan. Motor symptoms were measured with the Unified Parkinson's Disease Rating Scale (UPDRS) motor part. Levodopa equivalent daily dose (LEDD) for each patient was also calculated. The PET images were analyzed using statistical parametric mapping software. We introduced the age, educational level, HAMD scores, AS scores and ESS scores as covariates. High FSS scores were associated with brain hypermetabolism in areas including the right middle temporal gyrus (Brodmann area [BA] 37) and left middle occipital gyrus (BA 19). Increased FSS scores correlated with hypometabolism in regions such as the right precuneus (BA 23), left inferior frontal gyrus (BA 45) and left superior frontal gyrus (orbital part, BA 11). This study demonstrates that brain areas including frontal, temporal and parietal regions indicative of emotion, motivation and cognitive functions are involved in fatigue in PD patients.

  17. Grey and White Matter Clinico-Anatomical Correlates of Disinhibition in Neurodegenerative Disease

    PubMed Central

    Santillo, Alexander Frizell; Lundblad, Karl; Nilsson, Markus; Landqvist Waldö, Maria; van Westen, Danielle; Lätt, Jimmy; Blennow Nordström, Erik; Vestberg, Susanna; Lindberg, Olof; Nilsson, Christer

    2016-01-01

    Disinhibition is an important symptom in neurodegenerative diseases. However, the clinico-anatomical underpinnings remain controversial. We explored the anatomical correlates of disinhibition in neurodegenerative disease using the perspective of grey and white matter imaging. Disinhibition was assessed with a neuropsychological test and a caregiver information-based clinical rating scale in 21 patients with prefrontal syndromes due to behavioural variant frontotemporal dementia (n = 12) or progressive supranuclear palsy (n = 9), and healthy controls (n = 25). Cortical thickness was assessed using the Freesurfer software on 3T MRI data. The integrity of selected white matter tracts was determined by the fractional anisotropy (FA) from Diffusion Tensor Imaging. Disinhibition correlated with the cortical thickness of the right parahippocampal gyrus, right orbitofrontal cortex and right insula and the FA of the right uncinate fasciculus and right anterior cingulum. Notably, no relationship was seen with the thickness of ventromedial prefrontal cortex. Our results support an associative model of inhibitory control, distributed in a medial temporal lobe-insular-orbitofrontal network, connected by the intercommunicating white matter tracts. This reconciles some of the divergences among previous studies, but also questions the current conceptualisation of the “prefrontal” syndrome and the central role attributed to the ventromedial prefrontal cortex in inhibitory control. PMID:27723823

  18. Cardiac Magnetic Resonance-Verified Myocardial Fibrosis in Chagas Disease: Clinical Correlates and Risk Stratification

    PubMed Central

    Uellendahl, Marly; de Siqueira, Maria Eduarda Menezes; Calado, Eveline Barros; Kalil-Filho, Roberto; Sobral, Dário; Ribeiro, Clébia; Oliveira, Wilson; Martins, Silvia; Narula, Jagat; Rochitte, Carlos Eduardo

    2016-01-01

    Background Chagas disease (CD) is an important cause of heart failure and mortality, mainly in Latin America. This study evaluated the morphological and functional characteristics of the heart as well the extent of myocardial fibrosis (MF) in patients with CD by cardiac magnetic resonance (CMR). The prognostic value of MF evaluated by myocardial-delayed enhancement (MDE) was compared with that via Rassi score. Methods This study assessed 39 patients divided into 2 groups: 28 asymptomatic patients as indeterminate form group (IND); and symptomatic patients as Chagas Heart Disease (CHD) group. All patients underwent CMR using the techniques of cine-MRI and MDE, and the amount of MF was compared with the Rassi score. Results Regarding the morphological and functional analysis, significant differences were observed between both groups (p < 0.001). Furthermore, there was a strong correlation between the extent of MF and the Rassi score (r = 0.76). Conclusions CMR is an important technique for evaluating patients with CD, stressing morphological and functional differences in all clinical presentations. The strong correlation with the Rassi score and the extent of MF detected by CMR emphasizes its role in the prognostic stratification of patients with CD. PMID:27982271

  19. Neuropsychological and Emotional Correlates of Personality Traits in Parkinson’s Disease

    PubMed Central

    Koerts, Janneke; Tucha, Lara; Leenders, Klaus L.; Tucha, Oliver

    2013-01-01

    Parkinson’s disease (PD) is, apart from the well-known motor symptoms, also characterized by neuropsychological and emotional disturbances. However, patients also often present with a personality profile of low Novelty Seeking and high Harm Avoidance. This profile can be identified as the disease emerges, which raises the question whether these traits correlate with more fundamental neuropsychological and emotional disturbances. This study determined the neuropsychological and emotional correlates of Novelty Seeking, Harm Avoidance and two other personality traits that are often considered in PD, i.e. Reward Dependence and Persistence. Forty-three patients and 25 healthy participants were assessed with the Temperament and Character Inventory, a symptoms of depression questionnaire and neuropsychological tests. PD patients showed a higher Harm Avoidance than healthy participants, which was predicted by symptoms of depression. Groups did not differ regarding Novelty Seeking, Reward Dependence and Persistence. While cognitive flexibility was a predictor of Reward Dependence, Persistence was predicted by divergent thinking and inhibition. Novelty Seeking was not predicted by cognition or emotion. In conclusion, cognition and emotion are selectively related to personality traits in PD. Whereas Harm Avoidance covaries with emotional symptoms, Persistence and Reward Dependence are related to cognition. Alterations in personality, cognition and emotion in PD are thus not independent from each other. PMID:23242356

  20. TISSUE FACTOR-POSITIVE MONOCYTES IN CHILDREN WITH SICKLE CELL DISEASE: CORRELATION WITH BIOMARKERS OF HAEMOLYSIS

    PubMed Central

    Yamaja Setty, B. N.; Key, Nigel S.; Rao, A Koneti; Gayen-Betal, Suhita; Krishnan, Suba; Dampier, Carlton D.; Stuart, Marie J.

    2012-01-01

    SUMMARY Tissue Factor (TF) initiates thrombin generation, and whole blood TF (WBTF) is elevated in sickle cell disease (SCD). We sought to identify the presence of TF-positive monocytes in SCD and their relationship with the other coagulation markers including WBTF, microparticle-associated TF, thrombin-antithrombin (TAT) complexes and D-dimer. Whether major SCD-related pathobiological processes, including haemolysis, inflammation and endothelial activation, contribute to the coagulation abnormalities was also studied. The cohort comprised children with SCD (18 HbSS, 12 HbSC, mean age 3.6 years). We demonstrated elevated levels of TF-positive monocytes in HbSS, which correlated with WBTF, TAT and D-Dimer (p=0.02 to p=0.0003). While TF-positive monocytes, WBTF, TAT and D-dimer correlated with several biomarkers of haemolysis, inflammation and endothelial activation in univariate analyses, in multiple regression models the haemolytic markers (reticulocytes and lactate dehydrogenase) contributed exclusively to the association with all four coagulant markers evaluated. The demonstration that haemolysis is the predominant operative pathology in the associated perturbations of coagulation in HbSS at a young age provides additional evidence for the early use of therapeutic agents, such as hydroxycarbamide to reduce the haemolytic component of this disease. PMID:22360627

  1. Non linear approach to study the dynamics of neurodegenerative diseases by Multifractal Detrended Cross-correlation Analysis-A quantitative assessment on gait disease

    NASA Astrophysics Data System (ADS)

    Dutta, Srimonti; Ghosh, Dipak; Samanta, Shukla

    2016-04-01

    This paper studies the human gait pattern of normal people and patients suffering from Parkinson's disease using the MFDXA (Multifractal Detrended Cross-correlation Analysis) methodology. The auto correlation and cross correlation of the time series of the total force under the left foot and right foot were studied. The study reveals that the degree of multifractality (W) and degree of correlation (γ) are generally more for normal patients than the diseased set. It is also observed that the values of W and γ are nearly same for left foot and right. It is also observed that the study of autocorrelation alone is not sufficient, cross correlations should also be studied to get a better concept of neurodegenerative diseases.

  2. High Mobility Group Box Protein-1 correlates with renal function in chronic kidney disease (CKD).

    PubMed

    Bruchfeld, Annette; Qureshi, Abdul Rashid; Lindholm, Bengt; Barany, Peter; Yang, Lihong; Stenvinkel, Peter; Tracey, Kevin J

    2008-01-01

    Chronic kidney disease (CKD) is associated with inflammation and malnutrition and carries a markedly increased risk of cardiovascular disease (CVD). High Mobility Group Box Protein-1 (HMGB-1) is a 30-kDa nuclear and cytosolic protein known as a transcription and growth factor, recently identified as a proinflammatory mediator of tissue injury. Recent data implicates HMGB-1 in endotoxin lethality, rheumatoid arthritis, and atherosclerosis. The aim of this post-hoc, cross-sectional study was to determine whether HMGB-1 serum levels are elevated in CKD patients. The study groups were categorized as follows: 110 patients starting dialysis defined as CKD 5; 67 patients with moderately to severely reduced renal function or CKD 3-4; and 48 healthy controls. High-sensitivity C-reactive-protein (hs-CRP), interleukin-6 (IL-6), tumor necrosis factor (TNF), serum-albumin (S-albumin), hemoglobin A(1c) (HbA(1c)), hemoglobin, subjective global nutritional assessment (SGA), and glomerular filtration rate (GFR) were analyzed. Kruskal-Wallis test was used to compare groups and Spearman's rank correlation test was used for continuous variables. HMGB-1, measured by Western blot, was significantly (P < 0.001) elevated in CKD 5 (146.7 +/- 58.6 ng/mL) and CKD 3-4 (85.6 +/- 31.8) compared with controls (10.9 +/- 10.5). HMGB-1 levels were correlated positively with TNF (Rho = 0.52; P < 0.001), hs-CRP (Rho = 0.38; P < 0.001), IL-6 (Rho = 0.30; P < 0.001), HbA(1c) (Rho = 0.14; P = 0.02) and SGA (Rho = 0.21; P = 0.002) and negatively correlated with GFR (Rho = -0.69; P = 0.0001), Hb (Rho = -0.60; P < 0.001), S-albumin (Rho = -0.31; P < 0.001). The current study has revealed that HMGB-1 is elevated significantly in CKD patients and correlates with GFR as well as markers of inflammation and malnutrition. Future studies may delineate whether HMGB-1 is also a marker of disease activity and severity as well as a predictor of outcome in CKD.

  3. White-Matter Changes Correlate with Cognitive Functioning in Parkinson’s Disease

    PubMed Central

    Theilmann, Rebecca J.; Reed, Jason D.; Song, David D.; Huang, Mingxiong X.; Lee, Roland R.; Litvan, Irene; Harrington, Deborah L.

    2013-01-01

    Diffusion tensor imaging (DTI) findings from emerging studies of cortical white-matter integrity in Parkinson’s disease (PD) without dementia are inconclusive. When white-matter changes have been found, their relationship to cognitive functioning in PD has not been carefully investigated. To better characterize changes in tissue diffusivity and to understand their functional significance, the present study conducted DTI in 25 PD patients without dementia and 26 controls of similar ages. An automated tract-based DTI method was used. Fractional anisotropy (FA), mean diffusivity (MD), axial diffusivity (AD), and radial diffusivity (RD) were analyzed. Neuropsychological measures of executive functioning (working memory, verbal fluency, cognitive flexibility, inhibitory control) and visuospatial ability were then correlated with regions of interest that showed abnormal diffusivity in the PD group. We found widespread reductions in FA and increases in MD in the PD group relative to controls. These changes were predominantly related to an increase in RD. Increased AD in the PD group was limited to specific frontal tracks of the right hemisphere, possibly signifying more significant tissue changes. Motor symptom severity did not correlate with FA. However, different measures of executive functioning and visuospatial ability correlated with FA in different segments of tracts, which contain fiber pathways to cortical regions that are thought to support specific cognitive processes. The findings suggest that abnormal tissue diffusivity may be sensitive to subtle cognitive changes in PD, some of which may be prognostic of future cognitive decline. PMID:23630517

  4. NF-κB activity is inversely correlated to RNF11 expression in Parkinson's disease.

    PubMed

    Pranski, Elaine; Van Sanford, Carson D; Dalal, Nirjari; Orr, Adam L; Karmali, Dipan; Cooper, Deborah S; Gearing, Marla; Lah, James J; Levey, Allan I; Betarbet, Ranjita

    2013-06-28

    RING finger protein 11 (RNF11), a negative regulator of NF-κB signaling pathway, colocalizes with α-synuclein and is sequestered in Lewy bodies in Parkinson's disease (PD). Since persistent NF-κB activation is reported in PD, in this report we investigated if RNF11 expression level is correlated to activated NF-κB in PD. We examined RNF11 expression levels in correlation to phospho-p65, a marker for activated NF-κB, in control and PD brain tissue from cerebral cortex. In addition we performed double immunofluorescence labeling experiments to confirm this correlation. Our investigations demonstrated that the neuronal RNF11 expression was down-regulated in PD and was usually associated with increased expression of phospho-p65. Double labeling confirmed that loss of neuronal RNF11 was linked to increased phospho-p65 expression, suggesting that persistent presence of NF-κB activation could be due to decreased levels of its negative regulator. Our data exemplifies the relevance of RNF11 and persistent NF-κB activation in PD.

  5. Clinical Correlations With Lewy Body Pathology in LRRK2-Related Parkinson Disease

    PubMed Central

    Kalia, Lorraine V.; Lang, Anthony E.; Hazrati, Lili-Naz; Fujioka, Shinsuke; Wszolek, Zbigniew K.; Dickson, Dennis W.; Ross, Owen A.; Van Deerlin, Vivianna M.; Trojanowski, John Q.; Hurtig, Howard I.; Alcalay, Roy N.; Marder, Karen S.; Clark, Lorraine N.; Gaig, Carles; Tolosa, Eduardo; Ruiz-Martínez, Javier; Marti-Masso, Jose F.; Ferrer, Isidre; de Munain, Adolfo López; Goldman, Samuel M.; Schüle, Birgitt; Langston, J. William; Aasly, Jan O.; Giordana, Maria T.; Bonifati, Vincenzo; Puschmann, Andreas; Canesi, Margherita; Pezzoli, Gianni; De Paula, Andre Maues; Hasegawa, Kazuko; Duyckaerts, Charles; Brice, Alexis; Stoessl, A. Jon; Marras, Connie

    2015-01-01

    IMPORTANCE Mutations in leucine-rich repeat kinase 2 (LRRK2) are the most common cause of genetic Parkinson disease (PD) known to date. The clinical features of manifesting LRRK2 mutation carriers are generally indistinguishable from those of patients with sporadic PD. However, some PD cases associated with LRRK2 mutations lack Lewy bodies (LBs), a neuropathological hallmark of PD. We investigated whether the presence or absence of LBs correlates with different clinical features in LRRK2-related PD. OBSERVATIONS We describe genetic, clinical, and neuropathological findings of 37 cases of LRRK2-related PD including 33 published and 4 unpublished cases through October 2013. Among the different mutations, the LRRK2 p.G2019S mutation was most frequently associated with LB pathology. Nonmotor features of cognitive impairment/dementia, anxiety, and orthostatic hypotension were correlated with the presence of LBs. In contrast, a primarily motor phenotype was associated with a lack of LBs. CONCLUSIONS AND RELEVANCE To our knowledge, this is the first report of clinicopathological correlations in a series of LRRK2-related PD cases. Findings from this selected group of patients with PD demonstrated that parkinsonian motor features can occur in the absence of LBs. However, LB pathology in LRRK2-related PD may be a marker for a broader parkinsonian symptom complex including cognitive impairment. PMID:25401511

  6. Neuroanatomical correlates of verbal fluency in early Alzheimer's disease and normal aging.

    PubMed

    Rodríguez-Aranda, Claudia; Waterloo, Knut; Johnsen, Stein Harald; Eldevik, Petter; Sparr, Sigurd; Wikran, Gry C; Herder, Marit; Vangberg, Torgil Riise

    2016-01-01

    Verbal fluency (VF) impairments occur early in Alzheimer's disease (AD) and to a lesser extent also in normal aging. However, the neural underpinnings of these impairments are not fully understood. The present study evaluated whether VF impairments in early AD and normal aging rely upon common or different neuroanatomical correlates. We examined the association between VF performance and brain structure in 18 mild AD patients and 24 healthy elderly. Linear regressions were performed between accuracy and time intervals in VF scores and structural measurements of cerebral gray matter (GM) and white matter (WM) using MRI. Results showed that semantic VF correlated exclusively with GM in cerebellum, left temporal fusiform cortex, and WM in uncinate fasciculus, inferior fronto-occipital fasciculus and corpus callosum. Phonemic VF showed unique associations between intervals and WM in left-hemisphere tracts. The association between GM in hippocampus, subcortical structures and semantic accuracy differentiated patients from controls. Results showed that VF impairments are primarily associated with same structural brain changes in AD as in healthy elderly but at exaggerated levels. However, specific VF deficiencies and their underlying neural correlates exist and these clearly differentiate the initial stages of AD.

  7. Structural correlates of facial emotion recognition deficits in Parkinson's disease patients.

    PubMed

    Baggio, H C; Segura, B; Ibarretxe-Bilbao, N; Valldeoriola, F; Marti, M J; Compta, Y; Tolosa, E; Junqué, C

    2012-07-01

    The ability to recognize facial emotion expressions, especially negative ones, is described to be impaired in Parkinson's disease (PD) patients. Previous neuroimaging work evaluating the neural substrate of facial emotion recognition (FER) in healthy and pathological subjects has mostly focused on functional changes. This study was designed to evaluate gray matter (GM) and white matter (WM) correlates of FER in a large sample of PD. Thirty-nine PD patients and 23 healthy controls (HC) were tested with the Ekman 60 test for FER and with magnetic resonance imaging. Effects of associated depressive symptoms were taken into account. In accordance with previous studies, PD patients performed significantly worse in recognizing sadness, anger and disgust. In PD patients, voxel-based morphometry analysis revealed areas of positive correlation between individual emotion recognition and GM volume: in the right orbitofrontal cortex, amygdala and postcentral gyrus and sadness identification; in the right occipital fusiform gyrus, ventral striatum and subgenual cortex and anger identification, and in the anterior cingulate cortex (ACC) and disgust identification. WM analysis through diffusion tensor imaging revealed significant positive correlations between fractional anisotropy levels in the frontal portion of the right inferior fronto-occipital fasciculus and the performance in the identification of sadness. These findings shed light on the structural neural bases of the deficits presented by PD patients in this skill. Copyright © 2012 Elsevier Ltd. All rights reserved.

  8. Oscillatory pallidal local field potential activity inversely correlates with limb dyskinesias in Parkinson's disease.

    PubMed

    Silberstein, Paul; Oliviero, Antonio; Di Lazzaro, Vincenzo; Insola, Angelo; Mazzone, Paolo; Brown, Peter

    2005-08-01

    Levodopa induced dyskinesias (LIDs) are poorly understood and yet are a major cause of disability in Parkinson's disease (PD). The activity of neurons in the basal ganglia of patients with PD tends to be strongly synchronized at frequencies under 30 Hz, leading to oscillatory local field potentials (LFPs). As dopaminergic therapy acutely suppresses this synchronization, we investigated whether this suppression may contribute to LIDs. Accordingly, we sought an inverse correlation between oscillatory synchronization and dyskinesia activity across time. To this end, we recorded pallidal LFPs in two Parkinsonian subjects exhibiting LIDs following surgery for deep brain stimulation. We correlated LFP power with simultaneously recorded EMG from the dyskinetic contralateral upper limb. We found highly significant inverse correlations between the oscillatory LFP activity under 30 Hz and dyskinetic EMG (maximum r = -0.65, P < 0.001 and r = -0.33, P < 0.001 for activities over 13-30 Hz in each subject). The inverse relationship between oscillatory pallidal LFP activity and dyskinetic EMG was maintained over time periods of a few seconds and was focal. This observation links the suppression of oscillatory synchronization in the pallidum with dyskinetic muscle activity in PD.

  9. Computed tomography enterography findings correlate with tissue inflammation, not fibrosis in resected small bowel Crohn's disease.

    PubMed

    Adler, Jeremy; Punglia, Darashana R; Dillman, Jonathan R; Polydorides, Alexandros D; Dave, Maneesh; Al-Hawary, Mahmoud M; Platt, Joel F; McKenna, Barbara J; Zimmermann, Ellen M

    2012-05-01

    It has become commonplace to categorize small intestinal Crohn's disease (CD) as "active" vs. "inactive" or "inflammatory" vs. "fibrotic" based on computed tomography enterography (CTE) findings. Data on histologic correlates of CTE findings are lacking. We aimed to compare CTE findings with histology from surgically resected specimens. We tested the hypothesis that CTE findings can distinguish tissue inflammation from fibrosis. Patients who underwent CTE within 3 months before intestinal resection for CD were retrospectively studied. Radiologists blinded to history and histology scored findings on CTE. Pathologists blinded to history and imaging scored resected histology. We compared histology with CTE findings and radiologists assessment of whether the stricture was likely "active" or "inactive." In all, 22 patients met inclusion criteria. Inflammatory CTE findings correlated with histologic inflammation (rho = 0.52). Strictures believed to be "active" on CTE were more inflamed at histology (P = 0.0002). Strictures lacking inflammatory findings on CTE or considered "inactive" were not associated with greater histologic fibrosis or significant histologic inflammation. Upstream dilation was associated with greater tissue fibrosis in univariate (P = 0.014) but not in multivariate analysis (P = 0.53). Overall, histologic fibrosis correlated best with histologic inflammation (rho = 0.52). Strictures on CTE with the most active disease activity also had the most fibrosis on histology. CTE findings of mesenteric hypervascularity, mucosal hyperenhancement, and mesenteric fat stranding predict tissue inflammation. However, small bowel stricture without CTE findings of inflammation does not predict the presence of tissue fibrosis. Therefore, caution should be used when using CTE criteria to predict the presence of scar tissue. Copyright © 2011 Crohn's & Colitis Foundation of America, Inc.

  10. Genetic correlates of behavioral endophenotypes in Alzheimer disease: role of COMT, 5-HTTLPR and APOE polymorphisms.

    PubMed

    Borroni, B; Grassi, M; Agosti, C; Costanzi, C; Archetti, S; Franzoni, S; Caltagirone, C; Di Luca, M; Caimi, L; Padovani, A

    2006-11-01

    Several studies have been conducted to understand the genetic correlates of Alzheimer disease (AD)-related behavioral and psychological symptoms in dementia (BPSD). However, given that BPSD rarely occur in isolation, it has been suggested that targeting BPSD individually is too narrow of an approach if one wants to accurately define all the associated risk factors. To date, we know of no work on genetic polymorphisms related to behavioral endophenotypes in AD. The present study sought to evaluate the relationship between such behavioral endophenotypes in AD and genetic variations in dopamine- or serotonin-related genes, such as catechol-O-methyltransferase (COMT) or 5-HTT gene-linked promoter region (5-HTTLPR), and apolipoprotein E (APOE). Among 232 AD patients who underwent clinical and neuropsychological examination, a behavioral and psychiatric evaluation, and genotyping at COMT, 5-HTTPLR, and APOE; 66.4% showed more than one behavioral symptom. By Principal Component Analysis of Neuropsychiatric Inventory (NPI) symptoms four endophenotypes were identified, these were termed "psychosis", "moods", "apathy", and "frontal". Modeling NPI symptom-endophenotype-genotype relationships, and taking into account possible confounds (i.e. demographic characteristics, comorbidities, concomitant pharmacological treatments, and disease severity) by latent variable models, COMT and 5-HTTLPR genetic variations correlated with "frontal" and "psychosis" endophenotypes. APOE genotype did not correlate with any endophenotype. These findings suggest that the possibility of identifying distinct phenotypes on a genetic basis among AD patients exists, and suggest that clustering of BPSD into endophenotypes might provide a new strategy for guiding future research on this issue.

  11. Deficits in temporal processing correlate with clinical progression in Huntington's disease.

    PubMed

    Agostino, P V; Gatto, E M; Cesarini, M; Etcheverry, J L; Sanguinetti, A; Golombek, D A

    2017-10-01

    Precise temporal performance is crucial for several complex tasks. Time estimation in the second-to-minutes range-known as interval timing-involves the interaction of the basal ganglia and the prefrontal cortex via dopaminergic-glutamatergic pathways. Patients with Huntington's disease (HD) present deficits in cognitive and motor functions that require fine control of temporal processing. The objective of the present work was to assess temporal cognition through a peak-interval time (PI) production task in patients with HD and its potential correlation with the Unified Huntington's Disease Rating Scale (UHDRS). Patients with molecular diagnosis of HD and controls matched by age, sex and educational level (n=18/group) were tested for interval timing in short- (3 seconds), medium- (6 seconds) and long (12 seconds)-duration stimuli. Significant differences were observed in the PI task, with worse performance in HD compared to controls. Patients underestimated real time (left-shifted Peak location) for 6- and 12-second intervals (P<.05) and presented decreased temporal precision for all the intervals evaluated (P<.01). Importantly, a significant correlation was found between time performance and the UHDRS (P<.01). Patients' responses also deviated from the scalar property. Our results contribute to support that timing functions are impaired in HD in correlation with clinical deterioration. Recordings of cognitive performance related to timing could be a potential useful tool to measure the neurodegenerative progression of movement disorder-related pathologies. © 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  12. Correlation of Paraoxonase Status with Disease Activity Score and Systemic Inflammation in Rheumatoid Arthritic Patients

    PubMed Central

    Bindal, Usha Dudeja; Siddiqui, Merajul Haque; Sharma, Dilutpal

    2016-01-01

    Introduction Despite, various preventive efforts on conventional cardiovascular disease (CVD) risk factors, the incidence of CVD in rheumatoid arthritis (RA) patients increases continuously. To solve this conundrum one needs more investigations. Aim The present study was conducted to evaluate the plasma paraoxonase (PON) activity along with the markers of systemic inflammation, oxidative stress and disease activity score-28 (DAS28) in RA patients and clarify their role in determining the probability of RA patients to develop future CVD risk. Materials and Methods Plasma PON, total antioxidant activity (TAA), C-reactive protein (CRP), synovial interleukin-6 (IL-6) and erythrocyte malondialdehyde (MDA) levels were estimated in 40 RA patients aged 40-55 years aged and 40 age-matched healthy controls. The data obtained were compared statistically by using Student’s t-test and Pearson correlation test. Results Besides dyslipidaemia, marked reduction in plasma PON and TAA (p< 0.05) were observed in RA patients as compared with that of healthy controls. Erythrocyte MDA, plasma CRP and synovial IL-6 levels were increased significantly (p<0.05) in RA patients. PON was negatively correlated with MDA (r = - 0.672; p < 0.001), CRP (r = -0.458; p<0.05), IL-6 (r = -0.426; p<0.05) and DAS28 (r = -0.598; p < 0.001), and positively correlated with HDL cholesterol (r = 0.648; p<0.001) and TAA (r = 0.608; p< 0.001) levels in RA patients. Conclusion Alteration in PON activity might contribute to the progression of future CVD risk in RA patients, which may result from interplay of several confounding factors, such as inflammation, oxidative stress and dyslipidaemia. Furthermore, plasma PON activity, CRP and TAA levels could be considered as non-traditional factors to predict CVD risk. Thus, it is suggested that future drugs could be developed to target the non-traditional risk factors in RA patients. PMID:27134854

  13. Cognitive deficits in Machado-Joseph disease correlate with hypoperfusion of visual system areas.

    PubMed

    Braga-Neto, Pedro; Dutra, Lívia Almeida; Pedroso, José Luiz; Felício, André C; Alessi, Helena; Santos-Galduroz, Ruth F; Bertolucci, Paulo Henrique F; Castiglioni, Mário Luiz V; Bressan, Rodrigo Affonseca; de Garrido, Griselda Esther Jara; Barsottini, Orlando Graziani Povoas; Jackowski, Andrea

    2012-12-01

    Cognitive and olfactory impairments have previously been demonstrated in patients with spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease (MJD)-SCA3/MJD. We investigated changes in regional cerebral blood flow (rCBF) using single-photon emission computed tomography (SPECT) imaging in a cohort of Brazilian patients with SCA3/MJD. The aim of the present study was to evaluate the correlation among rCBF, cognitive deficits, and olfactory dysfunction in SCA3/MJD. Twenty-nine genetically confirmed SCA3/MJD patients and 25 control subjects were enrolled in the study. The severity of cerebellar symptoms was measured using the International Cooperative Ataxia Rating Scale and the Scale for the Assessment and Rating of Ataxia. Psychiatric symptoms were evaluated by the Hamilton Anxiety Scale and Beck Depression Inventory. The neuropsychological assessment consisted of Spatial Span, Symbol Search, Picture Completion, the Stroop Color Word Test, Trail Making Test (TMT), and Phonemic Verbal Fluency. Subjects were also submitted to odor identification evaluation using the 16-item Sniffin' Sticks. SPECT was performed using ethyl cysteine dimer labeled with technetium-99m. SCA3/MJD patients showed reduced brain perfusion in the cerebellum, temporal, limbic, and occipital lobes compared to control subjects (pFDR <0.001). A significant positive correlation was found between the Picture Completion test and perfusion of the left parahippocampal gyrus and basal ganglia in the patient group as well as a negative correlation between the TMT part A and bilateral thalamus perfusion. The visuospatial system is affected in patients with SCA3/MJD and may be responsible for the cognitive deficits seen in this disease.

  14. Correlation between blood asymmetric dimethylarginine level and the complications of patients with cardiovascular diseases.

    PubMed

    Wang, D; Lai, L H; Yan, P; Dong, P S

    2017-01-01

    This study aimed to investigate the correlation between blood asymmetric dimethylarginine (ADMA) and the complications of patients with cardiovascular diseases through studying the level changes of ADMA, endothelial nitric oxide synthase (eNOS) and NO. Two hundred research subjects with small differences in gender ratio and age, including 50 patients with hypertension combined with myocardial infarction, 50 patients with hypertension, 50 patients with myocardial infarction and 50 healthy normal controls, were enrolled. Relevant basic indexes were measured and recorded; the blood ADMA levels of all the research subjects were detected using high pressure liquid chromatography (HPLC) within the required time. Furthermore, the levels of eNOS and NO were detected using enzyme-linked immunosorbent assay and the relevant information, such as blood pressure, was recorded. The comparison and analysis results of data obtained through detection demonstrated that the subjects in the four groups were well comparable. It was found that the myocardial infarction combined with hypertension group had a much higher serum ADMA level and relatively low levels of eNOS and NO compared to those of the other three groups; the myocardial infarction group and the hypertension group had a much higher serum ADMA level compared to that of the healthy control group and the two groups had much lower levels of eNOS and NO. Moreover, the serum ADMA level was in a positive correlation with the severity of cardiovascular diseases and it showed a significant difference in patients with different severity of hypertension. The change of blood ADMA level can induce acute myocardial infarction as well as the occurrence of cardiovascular disease-associated complications.

  15. Thoracic involvement in Behçet's disease and its correlation with multiple parameters.

    PubMed

    Gunen, H; Evereklioglu, C; Kosar, F; Er, H; Kizkin, O

    2000-01-01

    In Behçet's disease (BD), controversy has existed over the incidence of thoracic involvement, which may be a direct threat to the patient's life. The aim of this study is to evaluate the incidence of thoracic involvement in BD and its correlation with the number of diagnostic BD criteria of The International Study Group (ISG), gender, disease duration, and the presence of symptoms. Forty-two BD patients, who had consecutively applied to different clinics in Turgut Ozal Medical Center Research Hospital, were included in the study. They were either newly diagnosed or already under treatment. All patients were examined by standard chest roentgenogram, spirometry, and thorax CT. Perfusion scintigraphies were obtained in patients with thoracic involvement. Thoracic pathologic conditions were found in five patients (11.9%). All thoracic pathologic conditions appeared in patients with at least four diagnostic criteria (26 patients) of the ISG for BD. In this subgroup, the rate of thoracic involvement was 19.2%. Also, 25% of the patients with pulmonary symptoms (12 patients) had thoracic lesions. Gender and the duration of the disease did not correlate with thoracic involvement. Our findings suggest that the rate of thoracic involvement in BD is greater than is generally believed. An increased number of diagnostic BD criteria of the ISG may indicate other organ system involvement and an increased risk of thoracic pathosis. All BD patients with at least four diagnostic criteria or any pulmonary symptoms should be evaluated for thoracic involvement, which is a major menace to life and necessitates early intervention.

  16. Variation in human erythrocyte membrane unsaturated Fatty acids: correlation with cardiovascular disease.

    PubMed

    Sepulveda, Jorge L; Tanhehco, Yvette C; Frey, Monica; Guo, Lida; Cropcho, Lorna J; Gibson, K Michael; Blair, Harry C

    2010-01-01

    Whether cell membrane fatty acid (FA) composition is a useful indicator of vascular disease is unclear. To study variation of erythrocyte (RBC) membrane FA in samples from healthy volunteers, hospitalized patients, and cardiac troponin I-elevated patients with myocardial damage without a priori assumptions as to FA composition. We separated FAs extracted from RBCs by gas chromatography and identified them by mass spectrometry. Fatty acids with abundance greater than 1% of total were quantified and compared: hexadecanoic (C16:0), octadecadienoic (C18:2), cis- and trans-octadecenoic (C18:1), and eicosatetraenoic (C20:4) acids. Deuterated standards established proportionality of FA recovery. The cis- and trans-C18:1 identification was verified by comparison with standards. In troponin-positive samples, C18:2 to C18:1 ratios were increased 30% compared with healthy controls or with random patient samples. Erythrocyte trans-C18:1 had a wide variation, approximately 10-fold, in all groups but without differences between groups. Replicates showed that the wide range of RBC trans-FA load is not due to analytic variation. In healthy subjects, the RBC content of lower- molecular weight FAs (C16-C18) correlated with serum low-density lipoprotein cholesterol, but despite the established relationship between dietary trans-FA and increased low-density lipoprotein cholesterol, lipid profiles had no correlation with RBC trans-FA content. Erythrocyte accumulation of unsaturated FA may be a useful indicator of vascular disease, whereas the wide range in trans-FAs suggests that both diet and genetic variation affect RBC trans-FA accumulation. Unsaturated FAs increase membrane fluidity and may reflect a natural response to subclinical vascular changes, which may in turn reflect increased risk of clinical disease.

  17. Biological correlates of blood pressure variability in elderly at high risk of cardiovascular disease.

    PubMed

    Poortvliet, Rosalinde K E; Lloyd, Suzanne M; Ford, Ian; Sattar, Naveed; de Craen, Anton J M; Wijsman, Liselotte W; Mooijaart, Simon P; Westendorp, Rudi G J; Jukema, J Wouter; de Ruijter, Wouter; Gussekloo, Jacobijn; Stott, David J

    2015-04-01

    Visit-to-visit variability in blood pressure is an independent predictor of cardiovascular disease. This study investigates biological correlates of intra-individual variability in blood pressure in older persons. Nested observational study within the PROspective Study of Pravastatin in the Elderly at Risk (PROSPER) among 3,794 male and female participants (range 70-82 years) with a history of, or risk factors for cardiovascular disease. Individual visit-to-visit variability in systolic and diastolic blood pressure and pulse pressure (expressed as 1 SD in mm Hg) was assessed using nine measurements over 2 years. Correlates of higher visit-to-visit variability were examined at baseline, including markers of inflammation, endothelial function, renal function and glucose homeostasis. Over the first 2 years, the mean intra-individual variability (1 SD) was 14.4mm Hg for systolic blood pressure, 7.7mm Hg for diastolic blood pressure, and 12.6mm Hg for pulse pressure. After multivariate adjustment a higher level of interleukin-6 at baseline was consistently associated with higher intra-individual variability of blood pressure, including systolic, diastolic, and pulse pressure. Markers of endothelial function (Von Willebrand factor, tissue plasminogen activator), renal function (glomerular filtration rate) and glucose homeostasis (blood glucose, homeostatic model assessment index) were not or to a minor extent associated with blood pressure variability. In an elderly population at risk of cardiovascular disease, inflammation (as evidenced by higher levels of interleukin-6) is associated with higher intra-individual variability in systolic, diastolic, and pulse pressure. © American Journal of Hypertension, Ltd 2014. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

  18. Refining Genotype-Phenotype Correlation in Autosomal Dominant Polycystic Kidney Disease.

    PubMed

    Hwang, Young-Hwan; Conklin, John; Chan, Winnie; Roslin, Nicole M; Liu, Jannel; He, Ning; Wang, Kairong; Sundsbak, Jamie L; Heyer, Christina M; Haider, Masoom; Paterson, Andrew D; Harris, Peter C; Pei, York

    2016-06-01

    Renal disease variability in autosomal dominant polycystic kidney disease (ADPKD) is strongly influenced by the gene locus (PKD1 versus PKD2). Recent studies identified nontruncating PKD1 mutations in approximately 30% of patients who underwent comprehensive mutation screening, but the clinical significance of these mutations is not well defined. We examined the genotype-renal function correlation in a prospective cohort of 220 unrelated ADPKD families ascertained through probands with serum creatinine ≤1.4 mg/dl at recruitment. We screened these families for PKD1 and PKD2 mutations and reviewed the clinical outcomes of the probands and affected family members. Height-adjusted total kidney volume (htTKV) was obtained in 161 affected subjects. Multivariate Cox proportional hazard modeling for renal and patient survival was performed in 707 affected probands and family members. Overall, we identified pathogenic mutations in 84.5% of our families, in which the prevalence of PKD1 truncating, PKD1 in-frame insertion/deletion, PKD1 nontruncating, and PKD2 mutations was 38.3%, 4.3%, 27.1%, and 30.3%, respectively. Compared with patients with PKD1 truncating mutations, patients with PKD1 in-frame insertion/deletion, PKD1 nontruncating, or PKD2 mutations have smaller htTKV and reduced risks (hazard ratio [95% confidence interval]) of ESRD (0.35 [0.14 to 0.91], 0.10 [0.05 to 0.18], and 0.03 [0.01 to 0.05], respectively) and death (0.31 [0.11 to 0.87], 0.20 [0.11 to 0.38], and 0.18 [0.11 to 0.31], respectively). Refined genotype-renal disease correlation coupled with targeted next generation sequencing of PKD1 and PKD2 may provide useful clinical prognostication for ADPKD. Copyright © 2016 by the American Society of Nephrology.

  19. Correlating heart rate and perceived exertion during aerobic exercise in Alzheimer's disease.

    PubMed

    Yu, Fang; Bil, Kristin

    2010-09-01

    Older adults reap many health benefits from aerobic exercise training; however, little is known about how to monitor the training responses in older adults with Alzheimer's disease. The purpose of this pilot study was to examine the correlation of objectively measured heart rate and subjectively reported perceived exertion during aerobic exercise training in four older men with advanced Alzheimer's disease from a pilot study that used a one-group pre- and post-test design. During training (three times per week for 8 weeks), the participants' heart rate and perceived exertion were assessed by a trained exercise trainer every 5 min by using the Polar heart rate monitor and the Borg's Rating of Perceived Exertion Scale, respectively. There were 596 heart rate-perceived exertion data pairs. The results show that the Pearson's r for the heart rate and perceived exertion was 0.457 (significant at 0.01, two-tailed), controlling for age, education, exercise session, and cognition. We conclude that the Borg's Rating of Perceived Exertion Scale itself might be insufficient for monitoring the exercise responses in older men with advanced Alzheimer's disease. Future studies are needed to further examine the utility of this scale in this population.

  20. Correlation of augmented startle reflex with brainstem electrophysiological responses in Tay-Sachs disease.

    PubMed

    Nakamura, Sadao; Saito, Yoshiaki; Ishiyama, Akihiko; Sugai, Kenji; Iso, Takashi; Inagaki, Masumi; Sasaki, Masayuki

    2015-01-01

    To clarify the evolution of an augmented startle reflex in Tay-Sachs disease and compare the temporal relationship between this reflex and brainstem evoked potentials. Clinical and electrophysiological data from 3 patients with Tay-Sachs disease were retrospectively collected. The augmented startle reflex appeared between the age of 3 and 17 months and disappeared between the age of 4 and 6 years. Analysis of brainstem auditory evoked potentials revealed that poor segregation of peak I, but not peak III, coincided with the disappearance of the augmented startle reflex. A blink reflex with markedly high amplitude was observed in a patient with an augmented startle reflex. The correlation between the augmented startle reflex and the preservation of peak I but not peak III supports the theory that the superior olivary nucleus is dispensable for this reflex. The blink reflex with high amplitudes may represent augmented excitability of reticular formation at the pontine tegmentum in Tay-Sachs disease, where the pattern generators for the augmented startle and blink reflexes may functionally overlap. Copyright © 2014 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

  1. Multimodal Image Analysis in Alzheimer's Disease via Statistical Modelling of Non-local Intensity Correlations.

    PubMed

    Lorenzi, Marco; Simpson, Ivor J; Mendelson, Alex F; Vos, Sjoerd B; Cardoso, M Jorge; Modat, Marc; Schott, Jonathan M; Ourselin, Sebastien

    2016-04-11

    The joint analysis of brain atrophy measured with magnetic resonance imaging (MRI) and hypometabolism measured with positron emission tomography with fluorodeoxyglucose (FDG-PET) is of primary importance in developing models of pathological changes in Alzheimer's disease (AD). Most of the current multimodal analyses in AD assume a local (spatially overlapping) relationship between MR and FDG-PET intensities. However, it is well known that atrophy and hypometabolism are prominent in different anatomical areas. The aim of this work is to describe the relationship between atrophy and hypometabolism by means of a data-driven statistical model of non-overlapping intensity correlations. For this purpose, FDG-PET and MRI signals are jointly analyzed through a computationally tractable formulation of partial least squares regression (PLSR). The PLSR model is estimated and validated on a large clinical cohort of 1049 individuals from the ADNI dataset. Results show that the proposed non-local analysis outperforms classical local approaches in terms of predictive accuracy while providing a plausible description of disease dynamics: early AD is characterised by non-overlapping temporal atrophy and temporo-parietal hypometabolism, while the later disease stages show overlapping brain atrophy and hypometabolism spread in temporal, parietal and cortical areas.

  2. Discriminative Learning for Alzheimer's Disease Diagnosis via Canonical Correlation Analysis and Multimodal Fusion

    PubMed Central

    Lei, Baiying; Chen, Siping; Ni, Dong; Wang, Tianfu

    2016-01-01

    To address the challenging task of diagnosing neurodegenerative brain disease, such as Alzheimer's disease (AD) and mild cognitive impairment (MCI), we propose a novel method using discriminative feature learning and canonical correlation analysis (CCA) in this paper. Specifically, multimodal features and their CCA projections are concatenated together to represent each subject, and hence both individual and shared information of AD disease are captured. A discriminative learning with multilayer feature hierarchy is designed to further improve performance. Also, hybrid representation is proposed to maximally explore data from multiple modalities. A novel normalization method is devised to tackle the intra- and inter-subject variations from the multimodal data. Based on our extensive experiments, our method achieves an accuracy of 96.93% [AD vs. normal control (NC)], 86.57 % (MCI vs. NC), and 82.75% [MCI converter (MCI-C) vs. MCI non-converter (MCI-NC)], respectively, which outperforms the state-of-the-art methods in the literature. PMID:27242506

  3. Genotype-phenotype correlations in von Hippel-Lindau (VHL) disease: Predisposition to pheochromocytoma

    SciTech Connect

    Maher, E.R.; Crossey, P.A.; Richards, F.M.

    1994-09-01

    VHL disease is a dominantly inherited familial cancer syndrome predisposing to a variety of neoplasms, most frequently retinal and CNS haemangioblastoma, renal cell carcinoma, and pheochromocytoma. Marked interfamilial differences in predisposition to pheochromocytoma are recognized. We identified germline mutations in 85 unrelated VHL disease patients (22 large germline deletions, 44 different intragenic mutations: 21 missense, 6 nonsense, 16 deletions or insertions, 1 splice donor site mutation), and correlated this information with phenotype in 65 kindreds. Large deletions or intragenic mutations predicted to cause a truncated protein were found in 36 of 53 families without pheochromocytoma but only 2 of 12 families with pheochromocytoma ({chi}{sup 2}=12.33 p<0.01). Of 12 families with pheochromocytoma, 10 had missense mutations compared to 13 of 53 kindreds without pheochromocytoma ({chi}{sup 2}=12.33 p<0.001). 5% of kindreds with large deletions or intragenic mutations predicted to cause a truncated protein were pheochromocytoma positive, compared to 43% of kindreds with misense mutations. In particular, substitution of an arginine at codon 238 (Arg{yields}Trp or Arg{yields}Gln) was associated with a high risk (62%) of pheochromocytoma. The identification of germline mutations in VHL disease not only allows presymptomatic diagnosis, but can also indicate the risk of pheochromocytoma. In addition these results provide a basis for screening for VHL gene mutations in patients with familial or sporadic pheochromocytoma. To date, VHL gene mutations have been identified in 2 families with familial pheochromocytoma.

  4. S1PR1 expression correlates with inflammatory responses to Newcastle disease virus infection.

    PubMed

    Li, Yaling; Xie, Peng; Sun, Minhua; Xiang, Bin; Kang, Yinfeng; Gao, Pei; Zhu, Wenxian; Ning, Zhangyong; Ren, Tao

    2016-01-01

    Newcastle disease virus (NDV) is the causative agent of Newcastle disease, which is characterized by inflammatory pathological changes in the organs of chickens. The inflammatory response to this disease has not been well characterized. Previous reports showed that the sphingosine-1-phosphate-1 receptor (S1PR1), a G protein-coupled receptor, is important to the activation of inflammatory responses. To understand better the viral pathogenesis and host inflammatory response, we analyzed S1PR1 expression during NDV infection. We observed a direct correlation between chicken embryo fibroblast (CEF) cellular inflammatory responses and S1PR1 expression. Virulent NDV-infected CEF cells also had elevated levels of pro-inflammatory cytokines (IL-1β, IL-6 and IL-18). When S1PR1 was inhibited by using the specific antagonist W146, pro-inflammatory cytokine production declined. Overexpression of S1PR1 resulted in increased virus-induced IL-1β production. S1PR1 expression levels did not impact significantly NDV replication. These findings highlight the important role of S1PR1 in inflammatory responses in NDV infection.

  5. Correlation between enzyme activity and substrate storage in a cell culture model system for Gaucher disease.

    PubMed

    Schueler, U H; Kolter, T; Kaneski, C R; Zirzow, G C; Sandhoff, K; Brady, R O

    2004-01-01

    Gaucher disease, the most common sphingolipidosis, is caused by a decreased activity of glucosylceramide beta-glucosidase, resulting in the accumulation of glucosylceramide in macrophage-derived cells known as Gaucher cells. Much of the storage material is thought to originate from the turnover of cell membranes, such as phagocytosed red and white blood cells. In this study, an in vitro model of Gaucher disease was developed by treating the murine macrophage cell line J774 with a specific inhibitor of glucosylceramide beta-glucosidase, conduritol B-epoxide, and feeding red blood cell ghosts, in order to mimic the disease state. It was found in this model system that glucosylceramide beta-glucosidase activity could be reduced to about 11-15% of the normal control level before increased storage of glucosylceramide occurred. This in vitro system allows insight into the correlation between enzyme activity and lipid storage as predicted by the theory of residual enzyme activity that was proposed by Conzelmann and Sandhoff.

  6. Correlation between degenerative spine disease and bone marrow density: a retrospective investigation.

    PubMed

    Grams, Astrid Ellen; Rehwald, Rafael; Bartsch, Alexander; Honold, Sarah; Freyschlag, Christian Franz; Knoflach, Michael; Gizewski, Elke Ruth; Glodny, Bernhard

    2016-02-24

    Spondylosis leads to an overestimation of bone mineral density (BMD) with dual-energy x-ray absorptiometry (DXA) but not with quantitative computed tomography (QCT). The correlation between degenerative changes of the spine and QCT-BMD was therefore investigated for the first time. One hundred thirty-four patients (66 female and 68 male) with a mean age of 49.0 ± 14.6 years (range: 19-88 years) who received a CT scan and QCT-BMD measurements of spine and hip were evaluated retrospectively. The occurrence and severity of spondylosis, osteochondrosis, and spondylarthrosis and the height of the vertebral bodies were assessed. A negative correlation was found between spinal BMD and number of spondylophytes (ρ = -0.35; p < 0.01), disc heights (r = -0.33; p < 0.01), number of discal air inclusions (ρ = -0.34; p < 0.01), the number of Schmorl nodules (ρ = -0.25; p < 0.01), the number (ρ = -0.219; p < 0.05) and the degree (ρ = -0.220; p < 0.05) of spondylarthrosis. Spinal and hip BMD correlated moderately, but the latter did not correlate with degenerative changes of the spine. In linear regression models age, osteochondrosis and spondylarthrosis were factors influencing spinal BMD. Degenerative spinal changes may be associated with reduced regional spinal mineralization. This knowledge could lead to a modification of treatment of degenerative spine disease with early treatment of osteopenia to prevent secondary fractures.

  7. Neuronal and Physiological Correlation to Hemodynamic Resting-State Fluctuations in Health and Disease

    PubMed Central

    Murphy, Matthew C.; Kim, Seong-Gi

    2014-01-01

    Abstract Low-frequency, spatially coherent fluctuations present in functional magnetic resonance imaging time series have had a tremendous impact on brain connectomics. This work aims to explore the degree with which hemodynamic connectivity is associated with neuronal, metabolic, and vascular connectivity measures. For this purpose, GCaMP and nontransgenic mice were used to image neuronal activity and oxidative metabolism activity, respectively, along with blood-oxygenation- and cerebral blood volume (CBV)–sensitive hemodynamic changes from the same animals. Although network clusters calculated using either GCaMP (neuronal activity) or optical imaging of intrinsic signal (OIS)–BOLD (blood oxygenation) data did not exhibit strong spatial similarity, the strengths of node-to-node connectivity measured with these modalities were strongly correlated with one another. This finding suggests that hemodynamic connectivity as measured by blood oxygenation measurements, such as functional connectivity magnetic resonance imaging, is a valuable surrogate for the underlying neuronal connectivity. In nontransgenic animals, greater connectivity correlation was observed between tissue oxidative metabolism (flavoprotein autofluorescence imaging [FAI]) and blood oxygenation measurements, suggesting that metabolic contributions to hemodynamic signals are likely responsible for its significant correlation with neuronal connectivity. Lastly, a mouse model of Alzheimer's disease was used to explore the source of decreases in connectivity reported in these mice, a finding that is thought to be associated with amyloid load-driven metabolic decline. The intercluster connectivity measured by metabolic-sensitive measurements (FAI and OIS-BOLD) was maintained while vascular-only signals (OIS-CBV) provided negligible correlation. Therefore, metabolism-sensitive measurements as used in this work are better positioned to capture changes in neuronal connectivity, such that decreases in

  8. Joint and fascial chronic graft-vs-host disease: correlations with clinical and laboratory parameters

    PubMed Central

    Vukić, Tamara; Smith, Sean Robinson; Ljubas Kelečić, Dina; Desnica, Lana; Prenc, Ema; Pulanić, Dražen; Vrhovac, Radovan; Nemet, Damir; Pavletic, Steven Z.

    2016-01-01

    Aim To determine if there are correlations between joint and fascial chronic graft-vs-host disease (cGVHD) with clinical findings, laboratory parameters, and measures of functional capacity. Methods 29 patients were diagnosed with cGVHD based on National Institutes of Health (NIH) Consensus Criteria at the University Hospital Centre Zagreb from October 2013 to October 2015. Physical examination, including functional measures such as 2-minute walk test and hand grip strength, as well as laboratory tests were performed. The relationship between these evaluations and the severity of joint and fascial cGVHD was tested by logistical regression analysis. Results 12 of 29 patients (41.3%) had joint and fascial cGVHD diagnosed according to NIH Consensus Criteria. There was a significant positive correlation of joint and fascial cGVHD and skin cGVHD (P < 0.001), serum C3 complement level (P = 0.045), and leukocytes (P = 0.032). There was a significant negative correlation between 2-minute walk test (P = 0.016), percentage of cytotoxic T cells CD3+/CD8+ (P = 0.022), serum albumin (P = 0.047), and Karnofsky score (P < 0.001). Binary logistic regression model found that a significant predictor for joint and fascial cGVHD was cGVHD skin involvement (odds ratio, 7.79; 95 confidence interval 1.87-32.56; P = 0.005). Conclusion Joint and fascial cGVHD manifestations correlated with multiple laboratory measurements, clinical features, and cGVHD skin involvement, which was a significant predictor for joint and fascial cGVHD. PMID:27374828

  9. Some anamnestic and clinical parameters correlated to longterm pulmonary hypertension development in patients with chronic obstructive lung disease.

    PubMed

    Mazzola, C; Ghiringhelli, G; Caspani, F; Cavallaro, G F

    1976-01-01

    A statistical correlation between anamnestic and hemodynamic data was performed in 40 patients with chronic obstructive lung disease and pulmonary hypertension at rest. Cardiopulmonary hemodynamic performance was significantly correlated with some of the assessed parameters, especially duration of illness and symptoms generally related with airway obstruction as dyspnea, cough and sputum.

  10. Specific autoantibody profiles and disease subgroups correlate with circulating micro-RNA in systemic sclerosis.

    PubMed

    Wuttge, Dirk M; Carlsen, Anting Liu; Teku, Gabriel; Steen, Samantha O; Wildt, Marie; Vihinen, Mauno; Hesselstrand, Roger; Heegaard, Niels H H

    2015-11-01

    To evaluate the expression profiles of cell-free plasma miRNAs in SSc and to characterize their correlation with disease subgroups (lcSSc and dcSSc) and with autoantibody profiles. Using quantitative RT-PCR, the abundance of 45 mature miRNAs in plasma was determined in 95 patients (lcSSc = 63; dcSSc = 32), representing the following autoantibody subgroups: ACA, anti-DNA topoisomerase I, anti-RNA polymerase III and anti-U1-ribonucleoprotein. MiRNA data were correlated with clinical and paraclinical data. Multiple regression was used to model membership of the lcSSc, dcSSc and autoantibody subgroups, based on miRNA expression profiles. Thirty-six miRNAs were measurable in all samples. Four (miRNA-223, -181b, -342-3p and -184) were differently expressed in lcSSc and dcSSc (false discovery rate < 0.05). Ten miRNAs exhibited statistically significantly different levels in one or more autoantibody groups, and five (miRNA-409, -184, -92a, -29a and -101) remained significant after correction for multiple comparisons. Multiple regression models accurately predicted ACA and anti-DNA topoisomerase I antibody-positive patients (area under the curve (AUC) = 0.97 and 0.93, respectively) as well as membership of the dcSSc and lcSSc groups (AUC = 0.88). Circulating miRNA profiles differ between lcSSc and dcSSc patients and between patients with different autoantibodies. This is the first time autoantibody profiles, disease phenotypes and plasma miRNA profiles have been shown to correlate in an autoimmune disease. The data support a pathobiological role of miRNAs because specific miRNAs associate with autoantibody profiles of known diagnostic and prognostic value. © The Author 2015. Published by Oxford University Press on behalf of the British Society for Rheumatology. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

  11. Correlates of dietary energy sources with cardiovascular disease risk markers in Mexican school-age children.

    PubMed

    Perichart-Perera, Otilia; Balas-Nakash, Margie; Rodríguez-Cano, Ameyalli; Muñoz-Manrique, Cinthya; Monge-Urrea, Adriana; Vadillo-Ortega, Felipe

    2010-02-01

    Dietary and lifestyle changes in Mexico have been linked to an increase in chronic diseases such as obesity and cardiovascular disease. Important dietary changes such as an increase in the consumption of energy-dense foods (high in oils, animal or processed fats, and sugars) have been recently reported. The objective of this study was to identify how key dietary energy sources correlated with other indexes of cardiovascular disease in a Mexican school-age population. From 2004 to 2006, a convenience sample (n=228) of 9- to 13-year-olds, 48.2% girls and 51.8% boys, from three public urban schools were included. Anthropometric, blood pressure, and dietary assessment (two multiple pass 24-hour recalls) were done. More than half of children did not meet the fruit and vegetable recommended intake. High-fat dairy foods (14% of total energy intake), refined carbohydrates (13.5%), red/processed meat (8.5%), added sugars/desserts (7%), corn tortilla (6.5%), and soft drinks/sweetened beverages (5%) were the highest dietary energy sources consumed. In a subgroup of children (n=185), a fasting blood sample was collected for biochemical analysis. A positive association was observed between glucose and diastolic blood pressure with the intake of soft drinks/sweetened beverages, insulin concentrations and the intake of white bread, and triglyceride concentrations with the intake of added fats. Unhealthful dietary energy sources are frequently consumed by these children. Culturally competent nutrition counseling should be offered to Mexican-American children and their families with a significant risk of cardiovascular disease. Efforts should be made to design and implement nutrition education and health promotion strategies in schools.

  12. Genome-wide associations for birth weight and correlations with adult disease

    PubMed Central

    Feenstra, Bjarke; van Zuydam, Natalie R; Gaulton, Kyle J; Grarup, Niels; Bradfield, Jonathan P; Strachan, David P; Li-Gao, Ruifang; Ahluwalia, Tarunveer S; Kreiner, Eskil; Rueedi, Rico; Lyytikäinen, Leo-Pekka; Cousminer, Diana L; Wu, Ying; Thiering, Elisabeth; Wang, Carol A; Have, Christian T; Hottenga, Jouke-Jan; Vilor-Tejedor, Natalia; Joshi, Peter K; Boh, Eileen Tai Hui; Ntalla, Ioanna; Pitkänen, Niina; Mahajan, Anubha; van Leeuwen, Elisabeth M; Joro, Raimo; Lagou, Vasiliki; Nodzenski, Michael; Diver, Louise A; Zondervan, Krina T; Bustamante, Mariona; Marques-Vidal, Pedro; Mercader, Josep M; Bennett, Amanda J; Rahmioglu, Nilufer; Nyholt, Dale R; Ma, Ronald Ching Wan; Tam, Claudia Ha Ting; Tam, Wing Hung; Ganesh, Santhi K; van Rooij, Frank JA; Jones, Samuel E; Loh, Po-Ru; Ruth, Katherine S; Tuke, Marcus A; Tyrrell, Jessica; Wood, Andrew R; Yaghootkar, Hanieh; Scholtens, Denise M; Paternoster, Lavinia; Prokopenko, Inga; Kovacs, Peter; Atalay, Mustafa; Willems, Sara M; Panoutsopoulou, Kalliope; Wang, Xu; Carstensen, Lisbeth; Geller, Frank; Schraut, Katharina E; Murcia, Mario; van Beijsterveldt, Catharina EM; Willemsen, Gonneke; Appel, Emil V R; Fonvig, Cilius E; Trier, Caecilie; Tiesler, Carla MT; Standl, Marie; Kutalik, Zoltán; Bonas-Guarch, Sílvia; Hougaard, David M; Sánchez, Friman; Torrents, David; Waage, Johannes; Hollegaard, Mads V; de Haan, Hugoline G; Rosendaal, Frits R; Medina-Gomez, Carolina; Ring, Susan M; Hemani, Gibran; McMahon, George; Robertson, Neil R; Groves, Christopher J; Langenberg, Claudia; Luan, Jian'an; Scott, Robert A; Zhao, Jing Hua; Mentch, Frank D; MacKenzie, Scott M; Reynolds, Rebecca M; Lowe, William L; Tönjes, Anke; Stumvoll, Michael; Lindi, Virpi; Lakka, Timo A; van Duijn, Cornelia M; Kiess, Wieland; Körner, Antje; Sørensen, Thorkild IA; Niinikoski, Harri; Pahkala, Katja; Raitakari, Olli T; Zeggini, Eleftheria; Dedoussis, George V; Teo, Yik-Ying; Saw, Seang-Mei; Melbye, Mads; Campbell, Harry; Wilson, James F; Vrijheid, Martine; de Geus, Eco JCN; Boomsma, Dorret I; Kadarmideen, Haja N; Holm, Jens-Christian; Hansen, Torben; Sebert, Sylvain; Hattersley, Andrew T; Beilin, Lawrence J; Newnham, John P; Pennell, Craig E; Heinrich, Joachim; Adair, Linda S; Borja, Judith B; Mohlke, Karen L; Eriksson, Johan G; Widén, Elisabeth E; Kähönen, Mika; Viikari, Jorma S; Lehtimäki, Terho; Vollenweider, Peter; Bønnelykke, Klaus; Bisgaard, Hans; Mook-Kanamori, Dennis O; Hofman, Albert; Rivadeneira, Fernando; Uitterlinden, André G; Pisinger, Charlotta; Pedersen, Oluf; Power, Christine; Hyppönen, Elina; Wareham, Nicholas J; Hakonarson, Hakon; Davies, Eleanor; Walker, Brian R; Jaddoe, Vincent WV; Jarvelin, Marjo-Riitta; Grant, Struan FA; Vaag, Allan A; Lawlor, Debbie A; Frayling, Timothy M; Davey Smith, George; Morris, Andrew P; Ong, Ken K; Felix, Janine F; Timpson, Nicholas J; Perry, John RB; Evans, David M; McCarthy, Mark I; Freathy, Rachel M

    2016-01-01

    Birth weight (BW) is influenced by both foetal and maternal factors and in observational studies is reproducibly associated with future risk of adult metabolic diseases including type 2 diabetes (T2D) and cardiovascular disease1. These lifecourse associations have often been attributed to the impact of an adverse early life environment. We performed a multi-ancestry genome-wide association study (GWAS) meta-analysis of BW in 153,781 individuals, identifying 60 loci where foetal genotype was associated with BW (P <5x10-8). Overall, ˜15% of variance in BW could be captured by assays of foetal genetic variation. Using genetic association alone, we found strong inverse genetic correlations between BW and systolic blood pressure (rg=-0.22, P =5.5x10-13), T2D (rg=-0.27, P =1.1x10-6) and coronary artery disease (rg=-0.30, P =6.5x10-9) and, in large cohort data sets, demonstrated that genetic factors were the major contributor to the negative covariance between BW and future cardiometabolic risk. Pathway analyses indicated that the protein products of genes within BW-associated regions were enriched for diverse processes including insulin signalling, glucose homeostasis, glycogen biosynthesis and chromatin remodelling. There was also enrichment of associations with BW in known imprinted regions (P =1.9x10-4). We have demonstrated that lifecourse associations between early growth phenotypes and adult cardiometabolic disease are in part the result of shared genetic effects and have highlighted some of the pathways through which these causal genetic effects are mediated. PMID:27680694

  13. Genome-wide associations for birth weight and correlations with adult disease.

    PubMed

    Horikoshi, Momoko; Beaumont, Robin N; Day, Felix R; Warrington, Nicole M; Kooijman, Marjolein N; Fernandez-Tajes, Juan; Feenstra, Bjarke; van Zuydam, Natalie R; Gaulton, Kyle J; Grarup, Niels; Bradfield, Jonathan P; Strachan, David P; Li-Gao, Ruifang; Ahluwalia, Tarunveer S; Kreiner, Eskil; Rueedi, Rico; Lyytikäinen, Leo-Pekka; Cousminer, Diana L; Wu, Ying; Thiering, Elisabeth; Wang, Carol A; Have, Christian T; Hottenga, Jouke-Jan; Vilor-Tejedor, Natalia; Joshi, Peter K; Boh, Eileen Tai Hui; Ntalla, Ioanna; Pitkänen, Niina; Mahajan, Anubha; van Leeuwen, Elisabeth M; Joro, Raimo; Lagou, Vasiliki; Nodzenski, Michael; Diver, Louise A; Zondervan, Krina T; Bustamante, Mariona; Marques-Vidal, Pedro; Mercader, Josep M; Bennett, Amanda J; Rahmioglu, Nilufer; Nyholt, Dale R; Ma, Ronald Ching Wan; Tam, Claudia Ha Ting; Tam, Wing Hung; Ganesh, Santhi K; van Rooij, Frank Ja; Jones, Samuel E; Loh, Po-Ru; Ruth, Katherine S; Tuke, Marcus A; Tyrrell, Jessica; Wood, Andrew R; Yaghootkar, Hanieh; Scholtens, Denise M; Paternoster, Lavinia; Prokopenko, Inga; Kovacs, Peter; Atalay, Mustafa; Willems, Sara M; Panoutsopoulou, Kalliope; Wang, Xu; Carstensen, Lisbeth; Geller, Frank; Schraut, Katharina E; Murcia, Mario; van Beijsterveldt, Catharina Em; Willemsen, Gonneke; Appel, Emil V R; Fonvig, Cilius E; Trier, Caecilie; Tiesler, Carla Mt; Standl, Marie; Kutalik, Zoltán; Bonas-Guarch, Sílvia; Hougaard, David M; Sánchez, Friman; Torrents, David; Waage, Johannes; Hollegaard, Mads V; de Haan, Hugoline G; Rosendaal, Frits R; Medina-Gomez, Carolina; Ring, Susan M; Hemani, Gibran; McMahon, George; Robertson, Neil R; Groves, Christopher J; Langenberg, Claudia; Luan, Jian'an; Scott, Robert A; Zhao, Jing Hua; Mentch, Frank D; MacKenzie, Scott M; Reynolds, Rebecca M; Lowe, William L; Tönjes, Anke; Stumvoll, Michael; Lindi, Virpi; Lakka, Timo A; van Duijn, Cornelia M; Kiess, Wieland; Körner, Antje; Sørensen, Thorkild Ia; Niinikoski, Harri; Pahkala, Katja; Raitakari, Olli T; Zeggini, Eleftheria; Dedoussis, George V; Teo, Yik-Ying; Saw, Seang-Mei; Melbye, Mads; Campbell, Harry; Wilson, James F; Vrijheid, Martine; de Geus, Eco Jcn; Boomsma, Dorret I; Kadarmideen, Haja N; Holm, Jens-Christian; Hansen, Torben; Sebert, Sylvain; Hattersley, Andrew T; Beilin, Lawrence J; Newnham, John P; Pennell, Craig E; Heinrich, Joachim; Adair, Linda S; Borja, Judith B; Mohlke, Karen L; Eriksson, Johan G; Widén, Elisabeth E; Kähönen, Mika; Viikari, Jorma S; Lehtimäki, Terho; Vollenweider, Peter; Bønnelykke, Klaus; Bisgaard, Hans; Mook-Kanamori, Dennis O; Hofman, Albert; Rivadeneira, Fernando; Uitterlinden, André G; Pisinger, Charlotta; Pedersen, Oluf; Power, Christine; Hyppönen, Elina; Wareham, Nicholas J; Hakonarson, Hakon; Davies, Eleanor; Walker, Brian R; Jaddoe, Vincent Wv; Jarvelin, Marjo-Riitta; Grant, Struan Fa; Vaag, Allan A; Lawlor, Debbie A; Frayling, Timothy M; Davey Smith, George; Morris, Andrew P; Ong, Ken K; Felix, Janine F; Timpson, Nicholas J; Perry, John Rb; Evans, David M; McCarthy, Mark I; Freathy, Rachel M

    2016-10-13

    Birth weight (BW) has been shown to be influenced by both fetal and maternal factors and in observational studies is reproducibly associated with future risk of adult metabolic diseases including type 2 diabetes (T2D) and cardiovascular disease. These life-course associations have often been attributed to the impact of an adverse early life environment. Here, we performed a multi-ancestry genome-wide association study (GWAS) meta-analysis of BW in 153,781 individuals, identifying 60 loci where fetal genotype was associated with BW (P < 5 × 10(-8)). Overall, approximately 15% of variance in BW was captured by assays of fetal genetic variation. Using genetic association alone, we found strong inverse genetic correlations between BW and systolic blood pressure (Rg = -0.22, P = 5.5 × 10(-13)), T2D (Rg = -0.27, P = 1.1 × 10(-6)) and coronary artery disease (Rg = -0.30, P = 6.5 × 10(-9)). In addition, using large -cohort datasets, we demonstrated that genetic factors were the major contributor to the negative covariance between BW and future cardiometabolic risk. Pathway analyses indicated that the protein products of genes within BW-associated regions were enriched for diverse processes including insulin signalling, glucose homeostasis, glycogen biosynthesis and chromatin remodelling. There was also enrichment of associations with BW in known imprinted regions (P = 1.9 × 10(-4)). We demonstrate that life-course associations between early growth phenotypes and adult cardiometabolic disease are in part the result of shared genetic effects and identify some of the pathways through which these causal genetic effects are mediated.

  14. Mucosal Atrophy in Celiac Disease: Extent of Involvement, Correlation With Clinical Presentation, and Response to Treatment

    PubMed Central

    MURRAY, JOSEPH A.; RUBIO–TAPIA, ALBERTO; VAN DYKE, CAROL T.; BROGAN, DEANNA L.; KNIPSCHIELD, MARY A.; LAHR, BRIAN; RUMALLA, ASHWIN; ZINSMEISTER, ALAN R.; GOSTOUT, CHRISTOPHER J.

    2008-01-01

    Background & Aims: Wireless capsule endoscopy provides an opportunity to study the macroscopic features in celiac disease by providing a magnified view of the intestinal mucosa. In this study, we evaluated the following: (1) the distribution of atrophy in untreated celiac disease, (2) the correlation between extent of changes and clinical manifestations, (3) the accuracy and interobserver agreement of wireless capsule endoscopy assessment, and (4) the effect of gluten withdrawal. Methods: Thirty-eight consecutive patients with untreated biopsy-proven celiac disease underwent wireless capsule endoscopy. Each subject was invited to undergo repeat testing after at least 6 months of gluten withdrawal. The video images of each patient were reviewed independently by 2 investigators. Results: Thirty-five (92%) subjects had visible atrophy detected by capsule endoscopy. Twenty-two (59%) subjects showed an extensive enteropathy, 12 (32%) had enteropathy limited to the duodenum, and only 1 had a jejunal enteropathy. No association was shown between the extent of the lesion and clinical manifestations. Capsule endoscopy had a better overall sensitivity for the detection of atrophy as compared with upper endoscopy (92% vs 55%, P = .0005), with a specificity of 100%. The overall interobserver agreement for the 2 reviewers was relatively high (% total agreement, 86.5%). After gluten withdrawal, the extent and the pattern of atrophy improved both qualitatively and quantitatively. Conclusions: Celiac disease affects a highly variable portion of the small intestine starting at the duodenum. The extent of visible enteropathy does not explain differences in clinical presentation. Most subjects with visually detected villous atrophy showed a clinically significant improvement after gluten withdrawal. PMID:18096440

  15. Endoscopic evaluation of celiac disease severity and its correlation with histopathological aspects of the duodenal mucosa

    PubMed Central

    Bonatto, Mauro W.; Kotze, Luiz; Orlandoski, Marcia; Tsuchyia, Ricardo; de Carvalho, Carlos A.; Lima, Doryane; Kurachi, Gustavo; Orso, Ivan R.B.; Kotze, Lorete

    2016-01-01

    Background and study aims: Celiac disease (CD) is a chronic systemic autoimmune disorder affecting genetically predisposed individuals, triggered and maintained by the ingestion of gluten. Triggered and maintained by the ingestion of gluten, celiac disease is a chronic systemic autoimmune disorder affecting genetically predisposed individuals. Persistent related inflammation of the duodenal mucosa causes atrophy architecture detectable on esophagogastroduodenoscopy (EGD) and histopathology. We investigated the association between endoscopic features and histopathological findings (Marsh) for duodenal mucosa in celiac disease patients and propose an endoscopic classification of severity. Patients and methods: Between January 2000 and March 2010, an electronic database containing 34,540 EDGs of patients aged > 14 years was searched for cases of CD. Out of 109 cases, 85 met the inclusion criteria: conventional EGD combined with chromoendoscopy, zoom and biopsy. EGD types 0, I and II corresponds to Marsh grades 0, 1 and 2, respectively, while EGD type III corresponds to Marsh grade 3 and 4. Results: Five patients (5.8 %) were EGD I but not Marsh grade 1; 25 patients (29.4 %) were EGD II, 4 of whom (16 %) were classified as Marsh grade 2; and 55 patients (64.7 %) were EGD III, 51 (92.7 %) of whom were classified as Marsh grades 3 and 4. The Spearman correlation coefficient (r = 0.33) revealed a significant association between the methods (P = 0.002). Conclusions: Changes in the duodenal mucosa detected on EGD were significantly and positively associated with histopathologic findings. The use of chromoendoscopy in addition to conventional EGD enhances changes in the duodenal mucosa and permits diagnosis of CD, even in routine examinations. The proposed endoscopic classification is practical and easily reproducible and provides valuable information regarding disease extension. PMID:27556094

  16. Lymphocyte and macrophage phenotypes in chronic hepatitis C infection. Correlation with disease activity.

    PubMed Central

    Khakoo, S. I.; Soni, P. N.; Savage, K.; Brown, D.; Dhillon, A. P.; Poulter, L. W.; Dusheiko, G. M.

    1997-01-01

    The pathogenesis of chronic hepatitis C and the mechanisms underlying progressive liver disease in patients with chronic hepatitis C infection are poorly understood. To demonstrate which inflammatory cells might be responsible for the necroinflammatory damage in chronic hepatitis C infection, we have correlated the phenotype of the intrahepatic lymphocytes and macrophages with histological activity in liver biopsy and explant specimens from 19 patients with chronic hepatitis C infection. In all stages of disease, more CD8+ than CD4+ lymphocytes were found. However, histologically active versus histologically mild hepatitis was associated with a trend toward greater parenchymal concentrations of CD4+ lymphocytes (0.71 +/- 0.27 per 10(4) microns 2 versus 0.35 +/- 0.15; not significant), significantly less parenchymal CD8+ lymphocytes (0.90 +/- 0.1 versus 1.70 +/- 0.3; t = 2.32, P = 0.03) and a greater parenchymal CD4/CD8 ratio (4.1 +/- 2.8 versus 0.91 +/- 0.3; t = 1.65, P = 0.07). No difference was found in the number of cells containing cytotoxic granules between the two groups. Greater numbers of CD4+ lymphocytes were found in liver biopsy specimens with little or no staining for hepatitis C virus antigen (1.47 +/- 0.88 versus 0.27 +/- 0.27; t = 2.28, P < 0.05). No significant differences were found in the macrophage subsets between the three stages of disease. Our data suggest that active histological disease in chronic hepatitis C infection may be associated with an increase in CD4+ lymphocytes and suggest that CD4+ T cells may play an important role in the hepatic injury in these patients. Images Figure 2 PMID:9060834

  17. Markers of Oxidative and Nitrosative Stress in Systemic Lupus Erythematosus: Correlation with Disease Activity

    PubMed Central

    Wang, Gangduo; Pierangeli, Silvia S.; Papalardo, Elizabeth; Ansari, G.A.S.; Khan, M. Firoze

    2010-01-01

    Objective Free radical-mediated reactions have been implicated as contributors in a number of autoimmune disease (ADs) including SLE. However, potential of oxidative/nitrosative stress in eliciting an autoimmune response, or in disease prognosis and pathogenesis in humans remains largely unexplored. This study investigates the status and contribution of oxidative/nitrosative stress in SLE. Methods Sera from 72 SLE patients with various SLE scores [SLE disease activity index (SLEDAI)] and 36 age- and gender-matched controls were evaluated for oxidative/nitrosative stress markers, such as anti-malondialdehyde (MDA)- and anti-4-hydroxynonenal (HNE)-protein adduct antibodies, MDA-/HNE-protein adducts, superoxide dismutase (SOD), nitrotyrosine and iNOS. Results Serum analysis showed significantly higher levels of both anti-MDA-/anti-HNE-protein adduct antibodies and MDA-/HNE-protein adducts in SLE patients. Interestingly, our data showed not only increased number of subjects positive for anti-MDA- or anti-HNE-protein antibodies, but also greater increases in both these antibodies in SLE patients with greater SLEDAI (≥ 6), which were significantly higher than the lower SLEDAI group (<6). Data also showed a significant correlation between anti-MDA or anti-HNE antibodies and SLEDAI (r = 0.734 and 0.647 for anti-MDA and anti-HNE antibodies, respectively) suggesting a possible causal relationship between these antibodies and SLE. Furthermore, sera from SLE patients had lower levels of SOD, and higher levels of iNOS and nitrotyrosine. Conclusion Our findings support an association between oxidative/nitrosative stress and SLE. Stronger response in samples with higher SLEDAI suggests that oxidative/nitrosative stress markers may be useful in evaluating the progression of SLE as well as in elucidating the mechanisms of disease pathogenesis. PMID:20201076

  18. Precise assembly and regulation of 26S proteasome and correlation between proteasome dysfunction and neurodegenerative diseases

    PubMed Central

    Im, Eunju; Chung, Kwang Chul

    2016-01-01

    Neurodegenerative diseases (NDs) often involve the formation of abnormal and toxic protein aggregates, which are thought to be the primary factor in ND occurrence and progression. Aged neurons exhibit marked increases in aggregated protein levels, which can lead to increased cell death in specific brain regions. As no specific drugs/therapies for treating the symptoms or/and progression of NDs are available, obtaining a complete understanding of the mechanism underlying the formation of protein aggregates is needed for designing a novel and efficient removal strategy. Intracellular proteolysis generally involves either the lysosomal or ubiquitin-proteasome system. In this review, we focus on the structure and assembly of the proteasome, proteasome-mediated protein degradation, and the multiple dynamic regulatory mechanisms governing proteasome activity. We also discuss the plausibility of the correlation between changes in proteasome activity and the occurrence of NDs. [BMB Reports 2016; 49(9): 459-473] PMID:27312603

  19. Precise assembly and regulation of 26S proteasome and correlation between proteasome dysfunction and neurodegenerative diseases.

    PubMed

    Im, Eunju; Chung, Kwang Chul

    2016-09-01

    Neurodegenerative diseases (NDs) often involve the formation of abnormal and toxic protein aggregates, which are thought to be the primary factor in ND occurrence and progression. Aged neurons exhibit marked increases in aggregated protein levels, which can lead to increased cell death in specific brain regions. As no specific drugs/therapies for treating the symptoms or/and progression of NDs are available, obtaining a complete understanding of the mechanism underlying the formation of protein aggregates is needed for designing a novel and efficient removal strategy. Intracellular proteolysis generally involves either the lysosomal or ubiquitin-proteasome system. In this review, we focus on the structure and assembly of the proteasome, proteasome-mediated protein degradation, and the multiple dynamic regulatory mechanisms governing proteasome activity. We also discuss the plausibility of the correlation between changes in proteasome activity and the occurrence of NDs. [BMB Reports 2016; 49(9): 459-473].

  20. Impaired finger dexterity in patients with parkinson's disease correlates with discriminative cutaneous sensory dysfunction.

    PubMed

    Lee, Myung Sik; Lyoo, Chul Hyoung; Lee, Myung Jun; Sim, Jaeeun; Cho, Hanna; Choi, Yun Ho

    2010-11-15

    To study the influence of discriminative cutaneous sensory dysfunction on impaired finger dexterity in Parkinson's disease (PD), we evaluated 48 right-handed PD patients during a practically defined off-medication period and 24 healthy age-matched controls. With visual deprivation, a finger tapping task (FTT) was performed to assess the speed of simple repetitive finger movements and a coin rotation task (CRT) was used to assess finger dexterity. The tasks were performed with the right hand. We measured the somesthetic temporal discrimination threshold (sTDT) in the right index finger. The mean ± SD FTT score of the patient group was lower than that of the control group (24.0 ± 8.0 vs. 29.8 ± 7.8; P < 0.01). The patient group performed worse on the CRT than the control group (8.5 ± 3.5 vs. 12.6 ± 1.7; P < 0.001). The mean sTDT value of the patient group was longer than that of the control group (124.0 ± 44.8 vs. 78.1 ± 26.2 ms; P < 0.001). The CRT scores correlated with the sTDT values (Pearson's correlation coefficient = -0.43; P < 0.01), but not with the Unified Parkinson's Disease Rating Scale (UPDRS) finger bradykinesia scores or FTT scores. Multiple regression analysis showed that the sTDT values (parameter estimate = -0.03, SE = 0.01; P < 0.01), but not patient age, UPDRS finger bradykinesia score, or FTT score, affected the CRT score. Slowness of simple repetitive finger movements did not have a strong impact on the impaired manual dexterity of PD. Discriminative sensory dysfunction and consequent abnormal sensorimotor integration seem to be involved in the impaired finger dexterity of PD.

  1. Anatomical Substrate and Scalp EEG Markers are Correlated in Subjects with Cognitive Impairment and Alzheimer's Disease.

    PubMed

    Moretti, Davide V; Frisoni, Giovanni B; Binetti, Giuliano; Zanetti, Orazio

    2011-01-01

    Dementia is a syndromic diagnosis, encompassing various stage of severity and different anatomo-physiological substrates. The hippocampus is one of the first and most affected brain regions affected by both Alzheimer's disease (AD) and mild cognitive impairment (MCI). Moreover, chronic cerebrovascular disease (CVD) is one of the major risk factor for developing dementia. Recent studies have demonstrated different relationship between the anatomical substrate and scalp electroencephalography (EEG) markers. Indeed, modifications of EEG rhythmicity is not proportional to the hippocampal atrophy, whereas changes in EEG activity are directly proportional to the load of subcortical CVD. The computation of the EEG spectral power and the analysis of the functional coupling of brain areas, through linear coherence, are two of the most known processing methods in EEG research. Two specific EEG markers, theta/gamma and alpha3/alpha2 frequency ratio have been reliable associated to the atrophy of amygdalo-hippocampal complex. Moreover, theta/gamma ratio has been related to MCI conversion in dementia and alpha3/alpha2 ratio has been specifically related to MCI conversion in AD. The functional coupling of brain areas is also modulated by hippocampal atrophy. In the MCI subjects, hippocampal atrophy is linked to an increase of interhemispheric coherence seen on frontal and temporal regions whereas subcortical CVD is linked to a decrease of coherence in fronto-parietal regions. In the present study the most significant results of recent studies on correlation between scalp EEG, cognitive decline, and anatomical substrate have been reviewed, with particular attention to the relationships between EEG changes and hippocampal atrophy. The following review is not intended to provide a comprehensive summary of the literature. Rather it identifies and discusses selected studies that are designed to find the specific correlation between scalp EEG markers and anatomo-pathological substrate

  2. Alzheimer Disease: Postmortem Neuropathologic Correlates of Antemortem 1H MR Spectroscopy Metabolite Measurements1

    PubMed Central

    Kantarci, Kejal; Knopman, David S.; Dickson, Dennis W.; Parisi, Joseph E.; Whitwell, Jennifer L.; Weigand, Stephen D.; Josephs, Keith A.; Boeve, Bradley F.; Petersen, Ronald C.; Jack, Clifford R.

    2008-01-01

    Purpose: To determine the neuropathologic correlates of antemortem hydrogen 1 (1H) magnetic resonance (MR) spectroscopy metabolite measurements in subjects with Alzheimer disease (AD)-type pathology. Materials and Methods: This study was approved by the institutional review board and was compliant with HIPAA regulations. Informed consent was obtained from each subject. The authors identified 54 subjects who underwent antemortem 1H MR spectroscopy and were clinically healthy or had AD-type pathology with low to high likelihood of AD according to National Institute on Aging–Reagan neuropathologic criteria at autopsy. They investigated the associations between 1H MR spectroscopy metabolite measurements and Braak neurofibrillary tangle stage (Braak stage), neuritic plaque score, and AD likelihood, with adjustments for subject age, subject sex, and time between 1H MR spectroscopy and death. Results: Decreases in N-acetylaspartate–to-creatine ratio, an index of neuronal integrity, and increases in myo-inositol–to-creatine ratio were associated with higher Braak stage, higher neuritic plaque score, and greater likelihood of AD. The N-acetylaspartate–to–myo-inositol ratio proved to be the strongest predictor of the pathologic likelihood of AD. The strongest association observed was that between N-acetylaspartate–to–myo-inositol ratio and Braak stage (RN2 = 0.47, P < .001). Conclusion: Antemortem 1H MR spectroscopy metabolite changes correlated with AD-type pathology seen at autopsy. The study findings validated 1H MR spectroscopy metabolite measurements against the neuropathologic criteria for AD, and when combined with prior longitudinal 1H MR spectroscopy findings, indicate that these measurements could be used as biomarkers for disease progression in clinical trials. © RSNA, 2008 PMID:18566174

  3. Correlation between acoustic speech characteristics and non-speech motor performance in Parkinson Disease.

    PubMed

    Goberman, Alexander M

    2005-03-01

    Research has found that non-speech motor deficits in Parkinson Disease (PD) can be consistently improved by levodopa medications and surgical treatment, but that speech and voice are only partially responsive to treatment. This has led to the assertion that speech is an axial (non-peripheral) feature of PD, along with other features that are only partially responsive to treatment (e.g., postural stability and gait). The current study tested this assertion via examination of the relationship between multiple measures of speech production and multiple measures of non-speech movement in individuals with PD. Nine individuals with idiopathic PD were studied, and all participants were taking levodopa-carbidopa medication. Motor performance was examined using the motor portion of the Unified Parkinson's Disease Rating Scale, and speech was examined via acoustic analysis of phonation, articulation, and prosody. Seven of sixteen speech acoustic measures (FoSD in vowels, F2 slope for /u/ and /ae/, FoSD in reading, articulation rate in monologue, and percent pause in reading and monologue) were significantly correlated with non-speech movements. Results suggested that speech measures are correlated with both axial motor symptoms (e.g., gait, facial expression, posture, postural stability) and non-axial motor symptoms (e.g., rest tremor, left and right bradykinesia, postural tremor). It has been hypothesized that axial symptoms of PD are more purely dopaminergic, and non-axial symptoms are related to non-dopaminergic lesions. Therefore, the current results indicate that certain speech deficits in PD may result from dopaminergic lesions, while others appear to result from non-dopaminergic lesions.

  4. Correlation of MRI Visual Scales with Neuropsychological Profile in Mild Cognitive Impairment of Parkinson's Disease

    PubMed Central

    Pereira, João Santos; Adachi, Marcelo; Greca, Denise; Cruz, Manuela; Malak, Ana Lara; Charchat-Fichman, Helenice; Spitz, Mariana

    2017-01-01

    Few studies have evaluated magnetic resonance imaging (MRI) visual scales in Parkinson's disease-Mild Cognitive Impairment (PD-MCI). We selected 79 PD patients and 92 controls (CO) to perform neurologic and neuropsychological evaluation. Brain MRI was performed to evaluate the following scales: Global Cortical Atrophy (GCA), Fazekas, and medial temporal atrophy (MTA). The analysis revealed that both PD groups (amnestic and nonamnestic) showed worse performance on several tests when compared to CO. Memory, executive function, and attention impairment were more severe in amnestic PD-MCI group. Overall analysis of frequency of MRI visual scales by MCI subtype did not reveal any statistically significant result. Statistically significant inverse correlation was observed between GCA scale and Mini-Mental Status Examination (MMSE), Montreal Cognitive Assessment (MoCA), semantic verbal fluency, Stroop test, figure memory test, trail making test (TMT) B, and Rey Auditory Verbal Learning Test (RAVLT). The MTA scale correlated with Stroop test and Fazekas scale with figure memory test, digit span, and Stroop test according to the subgroup evaluated. Visual scales by MRI in MCI should be evaluated by cognitive domain and might be more useful in more severely impaired MCI or dementia patients. PMID:28409050

  5. Structural and functional brain network correlates of depressive symptoms in premanifest Huntington's disease.

    PubMed

    McColgan, Peter; Razi, Adeel; Gregory, Sarah; Seunarine, Kiran K; Durr, Alexandra; A C Roos, Raymund; Leavitt, Blair R; Scahill, Rachael I; Clark, Chris A; Langbehn, Doug R; Rees, Geraint; Tabrizi, Sarah J

    2017-03-15

    Depression is common in premanifest Huntington's disease (preHD) and results in significant morbidity. We sought to examine how variations in structural and functional brain networks relate to depressive symptoms in premanifest HD and healthy controls. Brain networks were constructed using diffusion tractography (70 preHD and 81 controls) and resting state fMRI (92 preHD and 94 controls) data. A sub-network associated with depression was identified in a data-driven fashion and network-based statistics was used to investigate which specific connections correlated with depression scores. A replication analysis was then performed using data from a separate study. Correlations between depressive symptoms with increased functional connectivity and decreased structural connectivity were seen for connections in the default mode network (DMN) and basal ganglia in preHD. This study reveals specific connections in the DMN and basal ganglia that are associated with depressive symptoms in preHD. Hum Brain Mapp, 2017. © 2017 The Authors Human Brain Mapping Published by Wiley Periodicals, Inc.

  6. Correlation of MRI Visual Scales with Neuropsychological Profile in Mild Cognitive Impairment of Parkinson's Disease.

    PubMed

    Vasconcellos, Luiz Felipe; Pereira, João Santos; Adachi, Marcelo; Greca, Denise; Cruz, Manuela; Malak, Ana Lara; Charchat-Fichman, Helenice; Spitz, Mariana

    2017-01-01

    Few studies have evaluated magnetic resonance imaging (MRI) visual scales in Parkinson's disease-Mild Cognitive Impairment (PD-MCI). We selected 79 PD patients and 92 controls (CO) to perform neurologic and neuropsychological evaluation. Brain MRI was performed to evaluate the following scales: Global Cortical Atrophy (GCA), Fazekas, and medial temporal atrophy (MTA). The analysis revealed that both PD groups (amnestic and nonamnestic) showed worse performance on several tests when compared to CO. Memory, executive function, and attention impairment were more severe in amnestic PD-MCI group. Overall analysis of frequency of MRI visual scales by MCI subtype did not reveal any statistically significant result. Statistically significant inverse correlation was observed between GCA scale and Mini-Mental Status Examination (MMSE), Montreal Cognitive Assessment (MoCA), semantic verbal fluency, Stroop test, figure memory test, trail making test (TMT) B, and Rey Auditory Verbal Learning Test (RAVLT). The MTA scale correlated with Stroop test and Fazekas scale with figure memory test, digit span, and Stroop test according to the subgroup evaluated. Visual scales by MRI in MCI should be evaluated by cognitive domain and might be more useful in more severely impaired MCI or dementia patients.

  7. Callosal degeneration topographically correlated with cognitive function in amnestic mild cognitive impairment and Alzheimer's disease dementia.

    PubMed

    Wang, Pei-Ning; Chou, Kun-Hsien; Chang, Ni-Jung; Lin, Ker-Neng; Chen, Wei-Ta; Lan, Gong-Yau; Lin, Ching-Po; Lirng, Jiing-Feng

    2014-04-01

    Degeneration of the corpus callosum (CC) is evident in the pathogenesis of Alzheimer's disease (AD). However, the correlation of microstructural damage in the CC on the cognitive performance of patients with amnestic mild cognitive impairment (aMCI) and AD dementia is undetermined. We enrolled 26 normal controls, 24 patients with AD dementia, and 40 single-domain aMCI patients with at least grade 1 hippocampal atrophy and isolated memory impairment. Diffusion tensor imaging (DTI) with fractional anisotropy (FA), mean diffusivity (MD), axial diffusivity (DA), and radial diffusivity (DR) were measured. The entire CC was parcellated based on fiber trajectories to specific cortical Brodmann areas using a probabilistic tractography method. The relationship between the DTI measures in the subregions of the CC and cognitive performance was examined. Although the callosal degeneration in the patients with aMCI was less extended than in the patients with AD dementia, degeneration was already exhibited in several subregions of the CC at the aMCI stage. Scores of various neuropsychological tests were correlated to the severity of microstructural changes in the subregional CC connecting to functionally corresponding cortical regions. Our results confirm that CC degeneration is noticeable as early as the aMCI stage of AD and the disconnection of the CC subregional fibers to the corresponding Brodmann areas has an apparent impact on the related cognitive performance. Copyright © 2013 Wiley Periodicals, Inc.

  8. High EZH2 expression is correlated to metastatic disease in pediatric soft tissue sarcomas.

    PubMed

    Ramaglia, Maria; D'Angelo, Velia; Iannotta, Adriana; Di Pinto, Daniela; Pota, Elvira; Affinita, Maria Carmen; Donofrio, Vittoria; Errico, Maria Elena; Lombardi, Angela; Indolfi, Cristiana; Casale, Fiorina; Caraglia, Michele

    2016-01-01

    Enhancer of Zeste Drosophila Homologue 2 (EZH2) is a key regulator of transcription as a member of polycomb repressive complex 2 (PRC2) which exerts repression of downstream genes and is correlated to invasiveness and progression of different tumours. Therefore, we evaluated the expression of PRC2 proteins in pediatric soft tissue sarcoma (rhabdomyosarcoma, RMS and extraosseous Ewing sarcoma, EES) correlating them to the clinical outcome of the patients. We analyzed PRC2 protein expression by quantitative real time PCR, western blotting and immunohistochemistry in 17 soft tissue sarcomas (11 RMS and 6 EES) enrolled at Paediatric Oncology Units of the Second University of Naples. Expression analysis was performed for EZH2, SUZ12 and EED. Enhancer of Zeste Drosophila Homologue 2 was expressed with a different degree in 60 % of samples. Interestingly, the magnitude of EZH2 up regulation was significantly higher in patients presenting lymph node and/or distant metastases at the diagnosis. Moreover, patients overexpressing EZH2 had a lower probability of survival compared to patients negative or with low EZH2 expression. Our study suggests that high EZH2 expression is associated to increased aggressiveness of the disease. Therefore, drugs that control its activity could be potentially used in the epigenetic target treatment of tumors with these alterations.

  9. Subthalamic nucleus phase–amplitude coupling correlates with motor impairment in Parkinson’s disease

    PubMed Central

    van Wijk, Bernadette C.M.; Beudel, Martijn; Jha, Ashwani; Oswal, Ashwini; Foltynie, Tom; Hariz, Marwan I.; Limousin, Patricia; Zrinzo, Ludvic; Aziz, Tipu Z.; Green, Alexander L.; Brown, Peter; Litvak, Vladimir

    2016-01-01

    Objective High-amplitude beta band oscillations within the subthalamic nucleus are frequently associated with Parkinson’s disease but it is unclear how they might lead to motor impairments. Here we investigate a likely pathological coupling between the phase of beta band oscillations and the amplitude of high-frequency oscillations around 300 Hz. Methods We analysed an extensive data set comprising resting-state recordings obtained from deep brain stimulation electrodes in 33 patients before and/or after taking dopaminergic medication. We correlated mean values of spectral power and phase–amplitude coupling with severity of hemibody bradykinesia/rigidity. In addition, we used simultaneously recorded magnetoencephalography to look at functional interactions between the subthalamic nucleus and ipsilateral motor cortex. Results Beta band power and phase–amplitude coupling within the subthalamic nucleus correlated positively with severity of motor impairment. This effect was more pronounced within the low-beta range, whilst coherence between subthalamic nucleus and motor cortex was dominant in the high-beta range. Conclusions We speculate that the beta band might impede pro-kinetic high-frequency activity patterns when phase–amplitude coupling is prominent. Furthermore, results provide evidence for a functional subdivision of the beta band into low and high frequencies. Significance Our findings contribute to the interpretation of oscillatory activity within the cortico-basal ganglia circuit. PMID:26971483

  10. Neuropsychological correlates of theory of mind in patients with early Parkinson's disease.

    PubMed

    Santangelo, Gabriella; Vitale, Carmine; Trojano, Luigi; Errico, Domenico; Amboni, Marianna; Barbarulo, Anna Maria; Grossi, Dario; Barone, Paolo

    2012-01-01

    The theory of mind is the ability to attribute mental states to oneself and others and to understand that others have beliefs, desires and intentions different from one's own. The aim of the study was to explore the neuropsychological correlates of theory of mind in patients affected by early Parkinson's disease (PD). Thirty-three PD patients and 33 age-, sex-, and education-matched control subjects underwent the Frontal Assessment Battery, as well as tasks assessing "cognitive" and "affective" theory of mind, and memory abilities; questionnaires evaluating behavioral disorders and quality of life were also administrated. Although the 2 groups did not differ on neuropsychological tasks, PD patients' performance on tasks assessing cognitive and affective theory of mind was significantly worse than controls. Moreover, PD patients had more behavioral disorders and worse quality of life than controls. After covarying for behavioral and quality of life scores, the differences between patients and controls on theory of mind tasks remained significant. "Cognitive" theory of mind was associated with Frontal Assessment Battery score and 2 domains of quality of life scale, whereas "affective" theory of mind scores correlated only with behavioral scales such as the Frontal Behavioral Inventory and Apathy Evaluation Scale. The results demonstrate that both affective and cognitive aspects of theory of mind are simultaneously impaired in early PD and suggest that deficits in the 2 subcomponents of theory of mind may be linked to dysfunction of different frontosubcortical circuitries in early PD.

  11. [Circadian rhythm and encephalic vascular disease: a correlative study with risk factors].

    PubMed

    Oliveira, Helio Araújo; Moreira, Alvaro José Porto; Oliveira, Arthur Maynart Pereira

    2004-06-01

    The human biological mechanisms show a predictable clinical variability in time, which has allowed a deeper reevaluation of present-day medical practices, regarding the circadian rhythm (CR) and the mechanisms that produce the supported variations in all biological levels. We have made a study aiming to relate the CR and onset of the neurological clinic situation due to the encephalic vascular lesion, correlating with modifying risk factors. Fifty three patients were studied, 50,94% female (n=27) and 49,50% male (n=26), at average age 66.4 years old. Four intervals of six hours each (0-6; 6-12; 12-18; 18-24) were used to analyze the frequency of the ictus and the incidence in each interval. We found an incidence of 6(11.32%) patients in the 0-6 hs interval; 21 (39.62%) patients in the 6-12 hs interval; 10(18.86%) patients in the 12-18 hs interval; 16 (30.18%) patients in the 18-24 interval. A correlative study with the risk factors has shown that arterial hypertension [(81.25%)] and smoking habit [ (56.25)] were predominant during the 18-24 hs interval, while sedentary [11(52.38%)] stress [11(52.38%)] diabetes [(47.61%)] hyperlipidemia [8 (38.09%)] and alcoholism [8 (38.09%] were predominant during the 6-12 hs interval; and cardiac diseases in the 12-18hs interval.

  12. Neuroanatomical correlates of impaired decision-making and facial emotion recognition in early Parkinson's disease.

    PubMed

    Ibarretxe-Bilbao, Naroa; Junque, Carme; Tolosa, Eduardo; Marti, Maria-Jose; Valldeoriola, Francesc; Bargallo, Nuria; Zarei, Mojtaba

    2009-09-01

    Decision-making and recognition of emotions are often impaired in patients with Parkinson's disease (PD). The orbitofrontal cortex (OFC) and the amygdala are critical structures subserving these functions. This study was designed to test whether there are any structural changes in these areas that might explain the impairment of decision-making and recognition of facial emotions in early PD. We used the Iowa Gambling Task (IGT) and the Ekman 60 faces test which are sensitive to the integrity of OFC and amygdala dysfunctions in 24 early PD patients and 24 controls. High-resolution structural magnetic resonance images (MRI) were also obtained. Group analysis using voxel-based morphometry (VBM) showed significant and corrected (P < 0.05 FEW-small volume correction) gray matter (GM) loss in the right amygdala and bilaterally in the OFC in PD patients. Volumetric analyses were also performed but did not yield significant differences between groups. Left lateral GM volume in OFC showed a slight correlation with the IGT, and bilateral OFC GM was strongly correlated with Ekman test performance in PD patients. We conclude that: (i) impairment in decision-making and recognition of facial emotions occurs at the early stages of PD, (ii) these neuropsychological deficits are accompanied by degeneration of OFC and amygdala, and (iii) bilateral OFC reductions are associated with impaired recognition of emotions, and GM volume loss in left lateral OFC is related to decision-making impairment in PD.

  13. Seroprevalence of Bartonella henselae infection and correlation with disease status in cats in Switzerland.

    PubMed

    Glaus, T; Hofmann-Lehmann, R; Greene, C; Glaus, B; Wolfensberger, C; Lutz, H

    1997-11-01

    The prevalence of infection with Bartonella henselae was investigated in cats from different areas of Switzerland. Serum samples of 728 cats were examined for antibodies to B. henselae by immunofluorescent antibody testing, and the results were analyzed with a view to a possible correlation between a positive titer and signalment, clinical signs, infection with feline leukemia virus (FeLV), feline immunodeficiency virus (FIV), feline coronavirus (FCoV), or feline spumavirus (FeSFV), and the living environments of the cats. The seroprevalence in all cats was 8.3%. No significantly different prevalence was found in sick versus healthy cats (9.2 versus 7.2%); however, in sick cats seropositive for B. henselae, there was an increased frequency of stomatitis and a variety of diseases of the kidneys and the urinary tract. There was an increased prevalence of B. henselae in cats positive for FCoV (P = 0.0185) or FeSFV (P = 0.0235) and no statistically significant increased prevalence in cats infected with FeLV or FIV. There was no correlation between a positive titer and sex or breed. The same prevalence of B. henselae antibodies was found in cats with and without access to the outdoors and in cats from single- and multicat households. The seroprevalence was increased in cats living south of the Alps (12.1%); however, this difference was not significant (P = 0.0616).

  14. Clinical Correlates of Apathy in Patients Recently Diagnosed with Parkinson's Disease: The ANIMO Study

    PubMed Central

    Cubo, Esther; Benito-León, Julián; Coronell, Carlos; Armesto, Diana

    2012-01-01

    Objective Little is known about apathy in the early stages of Parkinson's disease (PD). We determined the clinical correlates of apathy in a large representative sample of patients recently diagnosed with PD (ANIMO study). Methods PD patients, diagnosed within 2 years of inclusion, were recruited in 102 outpatient clinics situated in 82 populations throughout Spain. Apathy was quantified using the Lille Apathy Rating Scale (LARS). Clinical comparisons and correlations were performed using nonparametric tests. Regression analyses were used to test the association of clinical variables with apathy. Results We recruited 557 PD patients (60.3% men) with a mean age of 68.8 ± 9.7 years, and UPDRS motor score of 21.1 ± 10.8. Apathy only was diagnosed in 186 (33.4%), and apathy and depression in 215 patients (38.6%). Patients with higher comorbidity (OR = 1.10, 95% CI 1.01−1.20, p = 0.001), motor impairment (OR = 1.07, 95% CI 1.03−1.10, p < 0.0001), and lower education (OR = 2.16, 95% CI 1.21−;3.85, p = 0.009) had higher odds of having apathy, in contrast to patients living in a rural environment (OR = 0.35, 95% CI 0.32–0.85, p = 0.01), and left predominant PD motor laterality (OR = 0.34, 95% CI 0.13–0.88, p = 0.01). LARS scores were significantly correlated with UPDRS motor scores (rs = 0.44, p < 0.001), predominantly with axial score (rs = 0.43, p < 0.001). Conclusions In PD, apathy is a very common and disabling nonmotor symptom separable from depression. Patients living in a rural environment, with lower comorbidity and motor impairment, higher education background, and left predominant PD motor laterality are at lower risk of suffering from apathy. PMID:22236943

  15. Clinical correlates of apathy in patients recently diagnosed with Parkinson's disease: the ANIMO study.

    PubMed

    Cubo, Esther; Benito-León, Julián; Coronell, Carlos; Armesto, Diana

    2012-01-01

    Little is known about apathy in the early stages of Parkinson's disease (PD). We determined the clinical correlates of apathy in a large representative sample of patients recently diagnosed with PD (ANIMO study). PD patients, diagnosed within 2 years of inclusion, were recruited in 102 outpatient clinics situated in 82 populations throughout Spain. Apathy was quantified using the Lille Apathy Rating Scale (LARS). Clinical comparisons and correlations were performed using nonparametric tests. Regression analyses were used to test the association of clinical variables with apathy. We recruited 557 PD patients (60.3% men) with a mean age of 68.8 ± 9.7 years, and UPDRS motor score of 21.1 ± 10.8. Apathy only was diagnosed in 186 (33.4%), and apathy and depression in 215 patients (38.6%). Patients with higher comorbidity (OR = 1.10, 95% CI 1.01-1.20, p = 0.001), motor impairment (OR = 1.07, 95% CI 1.03-1.10, p < 0.0001), and lower education (OR = 2.16, 95% CI 1.21-3.85, p = 0.009) had higher odds of having apathy, in contrast to patients living in a rural environment (OR = 0.35, 95% CI 0.32-0.85, p = 0.01), and left predominant PD motor laterality (OR = 0.34, 95% CI 0.13-0.88, p = 0.01). LARS scores were significantly correlated with UPDRS motor scores (r(s) = 0.44, p < 0.001), predominantly with axial score (r(s) = 0.43, p < 0.001). In PD, apathy is a very common and disabling nonmotor symptom separable from depression. Patients living in a rural environment, with lower comorbidity and motor impairment, higher education background, and left predominant PD motor laterality are at lower risk of suffering from apathy. Copyright © 2012 S. Karger AG, Basel.

  16. Amyloid burden correlates with cognitive decline in Alzheimer's disease presenting with aphasia.

    PubMed

    Jung, Y; Whitwell, J L; Duffy, J R; Strand, E A; Machulda, M M; Senjem, M L; Lowe, V; Jack, C R; Josephs, K A

    2014-07-01

    A subset of patients with Alzheimer's disease (AD) present with early and prominent language deficits. It is unclear whether the burden of underlying β-amyloid pathology is associated with language or general cognitive impairment in these subjects. The relationship between cortical β-amyloid burden on [(11) C]Pittsburgh compound B (PiB) positron emission tomography (PET) and performance on the Montreal Cognitive Assessment (MoCA), the Wechsler Memory Scale - Third Edition (WMS-III), the Boston Naming Test (BNT) and the Western Aphasia Battery (WAB) was assessed using regression and correlation analyses in subjects presenting with aphasia who showed β-amyloid deposition on PiB PET. The global PiB ratio was inversely correlated with MoCA (P = 0.02) and the WMS-III Visual Reproduction (VR) subtest (VR I, P = 0.02; VR II, P = 0.04). However, the correlations between PiB ratio, BNT (P = 0.13), WAB aphasia quotient (P = 0.11) and WAB repetition scores (P = 0.34) were not significant. This study demonstrates that an increased cortical β-amyloid burden is associated with cognitive impairment, but not language deficits, in AD subjects presenting with aphasia. The results suggest that β-amyloid deposition could be partly contributing to impaired cognition in such patients whilst language dysfunction may be more influenced by other pathological mechanisms, perhaps downstream pathways of β-amyloid deposition. © 2013 The Author(s) European Journal of Neurology © 2013 EAN.

  17. Buccal Cell Cytokeratin 14 Correlates with Multiple Blood Biomarkers of Alzheimer's Disease Risk.

    PubMed

    Leifert, Wayne R; Nguyen, Tori; Rembach, Alan; Martins, Ralph; Rainey-Smith, Stephanie; Masters, Colin L; Ames, David; Rowe, Christopher C; Macaulay, S Lance; François, Maxime; Fenech, Michael F

    2015-01-01

    Mild cognitive impairment (MCI) may reflect early stages of neurodegenerative disorders such as Alzheimer's disease (AD). Our hypothesis was that cytokeratin 14 (CK14) expression could be used with blood-based biomarkers such as homocysteine, vitamin B12, and folate to identify individuals with MCI or AD from the Australian Imaging, Biomarkers and Lifestyle (AIBL) flagship study of aging. Buccal cells from 54 individuals were analyzed by a newly developed method that is rapid, automated, and quantitative for buccal cell CK14 expression levels. CK14 was negatively correlated with plasma Mg²⁺ and LDL, while positively correlated with vitamin B12, red cell hematocrit/volume, and basophils in the MCI group and positively correlated with insulin and vitamin B12 in the AD group. The combined biomarker panel (CK14 expression, plasma vitamin B12, and homocysteine) was significantly lower in the MCI (p = 0.003) and AD (p = 0.0001) groups compared with controls. Receiver-operating characteristic curves yielded area under the curve (AUC) values of 0.829 for the MCI (p = 0.002) group and 0.856 for the AD (p = 0.0003) group. These complex associations of multiple related parameters highlight the differences between the MCI and AD cohorts and possibly an underlying metabolic pathology associated with the development of early memory impairment. The changes in buccal cell CK14 expression observed in this pilot study supports previous results suggesting the peripheral biomarkers and metabolic changes are not restricted to brain pathology alone in MCI and AD and could prove useful as a potential biomarker in identifying individuals with an increased risk of developing MCI and eventually AD.

  18. Brain perfusion correlates of visuoperceptual deficits in Mild Cognitive Impairment and mild Alzheimer’s disease

    PubMed Central

    Alegret, Montserrat; Vinyes-Junqué, Georgina; Boada, Mercè; Martínez-Lage, Pablo; Cuberas, Gemma; Espinosa, Ana; Roca, Isabel; Hernández, Isabel; Valero, Sergi; Rosende-Roca, Maitée; Mauleón, Ana; Becker, James T.; Tárraga, Lluís

    2012-01-01

    Background Visuoperceptual processing is impaired early in the clinical course of Alzheimer’s disease (AD). The 15-Objects Test (15-OT) detects such subtle performance deficits in Mild Cognitive Impairment (MCI) and mild AD. Reduced brain perfusion in the temporal, parietal and prefrontal regions have been found in early AD and MCI patients. Objectives To confirm the role of the 15-OT in the diagnosis of MCI and AD, and to investigate the brain perfusion correlates of visuoperceptual dysfunction (15-OT) in subjects with MCI, AD and normal aging. Methods Forty-two AD, 42 MCI and 42 healthy elderly control (EC) subjects underwent a brain Single Photon Emission Tomography (SPECT) and separately completed the 15-OT. An analysis of variance compared 15-OT scores between groups. SPM5 was used to analyse the SPECT data. Results 15-OT performace was impaired in the MCI and AD patients. In terms of the SPECT scans, AD patients showed reduced perfusion in temporal-parietal regions, while the MCI subjects had decreased perfusion in the middle and posterior cingulate. When MCI and AD groups were compared, a significant brain perfusion reduction was found in temporo-parietal regions. In the whole sample, 15-OT performance was significantly correlated with the clinical dementia rating scores, and with the perfusion in the bilateral posterior cingulate and the right temporal pole, with no significant correlation in each separate group. Conclusion Our findings suggest that the 15-OT performance provides a useful gradation of impairment from normal aging to AD, and it seems to be related to perfusion in the bilateral posterior cingulate and the right temporal pole. PMID:20555146

  19. Correlation of pepsin-measured laryngopharyngeal reflux disease with symptoms and signs.

    PubMed

    Wang, Lu; Liu, Xiong; Liu, You-li; Zeng, Fang-fang; Wu, Ting; Yang, Chun-li; Shen, Hai-yan; Li, Xiang-ping

    2010-12-01

    Pepsin detection in throat sputum has been posited as a reliable biological marker of laryngopharyngeal reflux disease (LPRD). This study was designed to further correlate pepsin concentration with symptoms and signs of LPRD. Cross-sectional study. Nanfang Hospital of Southern Medical University. Fifty-six laryngitis patients were divided into a reflux laryngitis group and a chronic laryngitis group based on the reflux symptom index (RSI), reflux finding score (RFS), and proton pump inhibitor treatment for two weeks. Oral and hypopharyngeal secretions from the study patients and from 15 healthy subjects were collected. Thirty-six obstructive sleep apnea (OSA) patients were divided into a mild-moderate group and a severe group by the apnea-hypopnea index (AHI). Bedtime and first-morning oral secretions were collected. Enzyme-linked immunosorbent assay was used to measure the pepsin concentration. In laryngitis patients, the total score of RSI and RFS (P < 0.05), and the symptoms, including clearing throat often, coughing, and sensing a lump in the throat (P < 0.006), were more severe in the pepsin-positive group. No significant differences were found between the oral and hypopharyngeal secretions. In OSA, pepsin levels in the first-morning oral secretions were correlated with AHI, mean SaO(2), and mini SaO(2) (P < 0.01). However, RSIs were not significantly correlated with these indicators. Higher levels of pepsin in sputum were associated with higher RSI and RFS in cases of laryngitis. There was no relationship between pepsin levels and RSI in cases of OSA. There were no differences of pepsin concentration in sputum collection methods or in collection timing. Copyright © 2010 American Academy of Otolaryngology-Head and Neck Surgery Foundation. Published by Mosby, Inc. All rights reserved.

  20. Breath condensate nitrite correlates with hyperinflation in chronic obstructive pulmonary disease.

    PubMed

    Gessner, Christian; Hammerschmidt, Stefan; Kuhn, Hartmut; Hoheisel, Gerhard; Gillissen, Adrian; Sack, Ulrich; Wirtz, Hubert

    2007-11-01

    Estimating the degree of pulmonary hyperinflation in chronic obstructive pulmonary disease (COPD) is not always straight forward. Standard pulmonary function tests provide only a crude estimate of this important aspect of COPD. In addition, good patient cooperation cannot always be achieved and therefore adds to the uncertainties with regard to the extent of hyperinflation of the lung. The aim of this investigation was to characterize exhaled breath condensate nitrite in volunteers, healthy smokers, and stable COPD (GOLD-stages 0-4) and to compare this parameter with inflammatory markers in exhaled breath condensate and with lung function in order to test the hypothesis that elevated exhaled breath condensate nitrite reflects hyperinflation in COPD. We found a logarithmic correlation of exhaled breath condensate nitrite to residual volume (r=0.75, p<0.0001), total lung capacity (r=0.51, p<0.0001), and thoracic gas volume (r=0.71, p<0.0001) but no correlation of exhaled breath condensate nitrite concentrations with levels of inflammatory cytokines in exhaled breath condensate (interleukin (IL)-8, IL-1beta, IL-6, IL-10, IL-12, and tumor necrosis factor-alpha). Analysis of COPD subgroups revealed a logarithmic correlation of EBC nitrite to residual volume, total lung capacity, and intrathoracic gas volume exclusively for patients characterized by GOLD classes 2, and higher. Our results confirm a relation of exhaled breath condensate nitrite levels and hyperinflation measured by conventional pulmonary function tests. Investigations using isolated lung models and cells stretched in culture also provide insight into this relation. Exhaled breath condensate nitrite may be a biochemical indicator of pulmonary overdistension.

  1. Clinical-biochemical correlations in acromegaly at diagnosis and the real prevalence of biochemically discordant disease.

    PubMed

    Mercado, Moisés; Espinosa de los Monteros, Ana Laura; Sosa, Ernesto; Cheng, Sonia; Mendoza, Victoria; Hernández, Irma; Sandoval, Carolina; Guinto, Gerardo; Molina, Mario

    2004-01-01

    To analyze clinical-biochemical correlations in newly diagnosed acromegaly, focusing in particular on patients with discrepant parameters. Retrospective study. Data from 164 patients with acromegaly seen between 1995 and 2003. Patients were reviewed for the presence of headaches, arthralgias, hypertension, menstrual abnormalities, impotence, glucose intolerance or diabetes. Biochemical evaluation consisted of age- and gender-adjusted IGF-I levels and glucose-suppressed GH. Magnetic resonance imaging (MRI) revealed macroadenoma in 127 patients and microadenoma in 37. Patients with macroadenomas were younger than those with microadenomas and the disease was more frequent in females. Excluding acral enlargement, which was present in all the patients, the most commonly reported complaints were headaches (66%) and arthralgias (52%). Hypertension was present in 37% of patients, whereas the prevalence of glucose intolerance and diabetes was 27 and 32%, respectively. Hyperprolactinemia was present in 20% of patients with microadenomas and in 40% of patients with macroadenomas. Hypogonadism was demonstrated in more than half of the patients and was not related to tumor size or prolactin level. Of all the clinical and metabolic abnormalities of acromegaly, only the presence of diabetes correlated with both basal and nadir post-glucose GH levels. Only 4 patients (2.4%) had glucose-suppressed GH values of <1 ng/ml in the presence of clinical evidence of acromegaly, an elevated IGF-I level and a pituitary adenoma on MRI. Clinical features of acromegaly correlate poorly with indices of biochemical activity. The prevalence of biochemically discordant acromegaly is considerably lower than recently reported.

  2. Fractal correlation property of heart rate variability in chronic obstructive pulmonary disease

    PubMed Central

    Carvalho, Tatiana D; Pastre, Carlos Marcelo; de Godoy, Moacir Fernandes; Fereira, Celso; Pitta, Fábio O; de Abreu, Luiz Carlos; Ramos, Ercy Mara Cipulo; Valenti, Vitor E; Vanderlei, Luiz Carlos Marques

    2011-01-01

    Background It was reported that autonomic nervous system function is altered in subjects with chronic obstructive pulmonary disease (COPD). We evaluated short- and long-term fractal exponents of heart rate variability (HRV) in COPD subjects. Patients and methods We analyzed data from 30 volunteers, who were divided into two groups according to spirometric values: COPD (n = 15) and control (n = 15). For analysis of HRV indices, HRV was recorded beat by beat with the volunteers in the supine position for 30 minutes. We analyzed the linear indices in the time (SDNN [standard deviation of normal to normal] and RMSSD [root-mean square of differences]) and frequency domains (low frequency [LF], high frequency [HF], and LF/HF), and the short- and long-term fractal exponents were obtained by detrended fluctuation analysis. We considered P < 0.05 to be a significant difference. Results COPD patients presented reduced levels of all linear exponents and decreased short-term fractal exponent (alpha-1: 0.899 ± 0.18 versus 1.025 ± 0.09, P = 0.026). There was no significant difference between COPD and control groups in alpha-2 and alpha-1/alpha-2 ratio. Conclusion COPD subjects present reduced short-term fractal correlation properties of HRV, which indicates that this index can be used for risk stratification, assessment of systemic disease manifestations, and therapeutic procedures to monitor those patients. PMID:21311690

  3. Correlation between CAG Repeat Length and Clinical Features in Machado-Joseph Disease

    PubMed Central

    Maciel, Patrícia; Gaspar, Claudia; DeStefano, Anita L.; Silveira, Isabel; Coutinho, Paula; Radvany, João; Dawson, David M.; Sudarsky, Lewis; Guimarães, João; Loureiro, Jose E. L.; Nezarati, Marjan M.; Corwin, Lee I.; Lopes-Cendes, Iscia; Rooke, Karen; Rosenberg, Roger; MacLeod, Patrick; Farrer, Lindsay A.; Sequeiros, Jorge; Rouleau, Guy A.

    1995-01-01

    Machado-Joseph disease (MJD) is associated with the expansion of a CAG trinucleotide repeat in a novel gene on 14q32.1. We confirmed the presence of this expansion in 156 MJD patients from 33 families of different geographic origins: 15 Portuguese Azorean, 2 Brazilian, and 16 North American of Portuguese Azorean descent. Normal chromosomes contain between 12 and 37 CAG repeats in the MJD gene, whereas MJD gene carriers have alleles within the expanded range of 62–84 CAG units. The distribution of expanded alleles and the gap between normal and expanded allele sizes is either inconsistent with a premutation hypothesis or most (if not all) of the alleles we studied descend from a common ancestor. There is a strong correlation between the expanded repeat size and the age at onset of the disease as well as the clinical presentation. There is mild instability of the CAG tract length with transmission of the expanded alleles; both increase and decrease in size between parents and progeny occur, with larger variations in male than in female transmissions. Together, these effects can partly explain the variability of age at onset and of phenotypic features in MJD; however, other modifying factors must exist. ImagesFigure 3 PMID:7611296

  4. Pathological and Clinical Correlation between Celiac Disease and Helicobacter Pylori Infection; a Review of Controversial Reports

    PubMed Central

    Rostami-Nejad, Mohammad; Javad Ehsani-Ardakani, Mohammad; Assadzadeh, Hamid; Shahbazkhani, Bijan; Ierardi, Enzo; Losurdo, Giuseppe; Zojaji, Homayon; Alizadeh, Amirhoshang Mohammad; Naderi, Nosratollah; Sadeghi, Amir; Zali, Mohammad Reza

    2016-01-01

    There are overwhelming reports and descriptions about celiac associated disorders. Although there is a clear genetic association between celiac disease (CD) and some gastrointestinal disorders, there are controversial reports claiming an association between CD and Helicobacter pylori (H. pylori) infection. Different studies indicated the possible association between lymphocytic gastritis and both CD and H. pylori infection, although this evidence is not consistently accepted. Also it was shown that an increase in intraepithelial lymphocytes count is associated with both H. pylori infection and celiac disease. Therefore the following questions may raise: how far is this infection actually related to CD?, which are the underlying patho-mechanisms for these associations? what are the clinical implications? what is the management? and what would be the role of gluten free diet in treating these conditions? PubMed (PubMed Central), Ovid, ISI of web knowledge, and Google scholar were searched for full text articles published between 1985 and 2015. The associated keywords were used, and papers described particularly the impact of pathological and clinical correlation between CD and H. pylori infection were identified. In this review we tried to answer the above questions and discussed some of the recent developments in the pathological and clinical aspects of CD and H. pylori infection. PMID:27252814

  5. Notch3 expression correlates with thyroid cancer differentiation, induces apoptosis, and predicts disease prognosis.

    PubMed

    Somnay, Yash R; Yu, Xiao-Min; Lloyd, Ricardo V; Leverson, Glen; Aburjania, Zviadi; Jang, Samuel; Jaskula-Sztul, Renata; Chen, Herbert

    2017-03-01

    Thyroid tumorigenesis is characterized by a progressive loss of differentiation exhibited by a range of disease variants. The Notch receptor family (1-4) regulates developmental progression in both normal and cancerous tissues. This study sought to characterize the third Notch isoform (Notch3) across the various differentiated states of thyroid cancer, and determine its clinical impact. Notch3 expression was analyzed in a tissue microarray of normal and pathologic thyroid biopsies from 155 patients. The functional role of Notch3 was then investigated by upregulating its expression in a follicular thyroid cancer (FTC) cell line. Notch3 expression regressed across decreasingly differentiated, increasingly malignant thyroid specimens, correlated with clinicopathological attributes reflecting poor prognosis, and independently predicted survival following univariate and multivariate analyses. Overexpression of the active Notch3 intracellular domain (NICD3) in a gain-of-function FTC line led to functional activation of centromere-binding protein 1, while increasing thyroid-specific gene transcription. NICD3 induction also reduced tumor burden in vivo and initiated the intrinsic apoptotic cascade, alongside suppressing cyclin and B-cell lymphoma 2 family expression. Loss of Notch3 expression may be fundamental to the process of dedifferentiation that accompanies thyroid oncogenesis. Conversely, activation of Notch3 in thyroid cancer exerts an antiproliferative effect and restores elements of a differentiated phenotype. These findings provide preclinical rationale for evaluating Notch3 as a disease prognosticator and therapeutic target in advanced thyroid cancer. Cancer 2017;123:769-82. © 2016 American Cancer Society. © 2016 American Cancer Society.

  6. Neural correlates of ataxia severity in spinocerebellar ataxia type 3/Machado-Joseph disease.

    PubMed

    Hernandez-Castillo, Carlos R; Diaz, Rosalinda; Campos-Romo, Aurelio; Fernandez-Ruiz, Juan

    2017-01-01

    Spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD) is an autosomal dominant inherited neurodegenerative disorder. Several post-mortem and imaging studies have shown cerebellar and brainstem atrophy. A number of studies have used volumetric regional information to investigate the relationship between neurodegeneration and the ataxia severity. However, regional analysis can obscure the specific location in which the degenerative process is affecting the brain tissue, which can be crucial for the development of new target treatments for this disease. Here we explored the relationship between the gray matter degeneration and the ataxia severity on a cohort of SCA3 patients using a voxel-wise approach. Seventeen patients with molecular diagnose of SCA3 and 17 matched healthy controls participated in this study. Magnetic resonance imaging (MRI) brain images were acquired and voxel-based morphometry was used to obtain the grey matter volume of each participant. Ataxia severity in the patient group was evaluated using the scale for the assessment and rating of ataxia (SARA). Group comparison revealed significant atrophy in SCA3 including bilateral cerebellum, vermis, brainstem, and occipital cortex. Significant negative correlations between gray matter volume and SARA scores were found in the cerebellum and the cingulate gyrus. These findings highlight the specific contribution of the cerebellum and the cingulate cortex to the ataxia deficits among the other regions showing neurodegeneration in SCA3 patients.

  7. Gene regulations in HBV-related liver cirrhosis closely correlate with disease severity.

    PubMed

    Lee, Seram; Kim, Soyoun

    2007-09-30

    Liver cirrhosis (LC) is defined as comprising diffuse fibrosis and regenerating nodules of the liver. The biochemical and anatomical dysfunction in LC results from both reduced liver cell number and portal vascular derangement. Although several studies have investigated dysregulated genes in cirrhotic nodules, little is known about the genes implicated in the pathophysiologic change of LC or about their relationship with the degree of decompensation. Here, we applied cDNA microarray analysis using 38 HBsAg-positive LC specimens to identify the genes dysregulated in HBV-associated LC and to evaluate their relation to disease severity. Among 1063 known cancer- and apoptosis-related genes, we identified 104 genes that were significantly up- (44) or down- (60) regulated in LC. Interestingly, this subset of 104 genes was characteristically correlated with the degree of decompensation, called the Pugh-Child classification (20 Pugh-Child A, 10 Pugh-Child B, and 8 Pugh-Child C). Patient samples from Pugh-Child C exhibited a distinct pattern of gene expression relative to those of Pugh-Child A and B. Especially in Pugh-Child C, genes encoding hepatic proteins and metabolizing enzymes were significantly down-regulated, while genes encoding various molecules related to cell replication were up-regulated. Our results suggest that subsets of genes in liver cells correspond to the pathophysiologic change of LC according to disease severity and possibly to hepatocarcinogenesis.

  8. Outcome of metronidazole therapy for Clostridium difficile disease and correlation with a scoring system.

    PubMed

    Belmares, Jaime; Gerding, Dale N; Parada, Jorge P; Miskevics, Scott; Weaver, Frances; Johnson, Stuart

    2007-12-01

    To determine the response rate of Clostridium difficile disease (CDD) to treatment with metronidazole and assess a scoring system to predict response to treatment with metronidazole when applied at the time of CDD diagnosis. Retrospective review of patients with CDD who received primary treatment with metronidazole. We defined success as diarrhea resolution within 6 days of therapy. A CDD score was defined prospectively using variables suggested to correlate with disease severity. Among 102 evaluable patients, 72 had a successful response (70.6%). Twenty-one of the remaining 30 patients eventually responded to metronidazole, but required longer treatment, leaving 9 'true failures'. The mean CDD score was higher among true failures (2.89+/-1.4) than among all metronidazole responders (0.77+/-1.0) (p<.0001). The score was greater than 2 in 67% of true failures and 2 or less in 94% of metronidazole responders. Leukocytosis and abnormal CT scan findings were individual factors associated with a higher risk of metronidazole failure. Only 71% of CDD patients responded to metronidazole within 6 days, but the overall response rate was 91%. A CDD score greater than 2 was associated with metronidazole failure in 6 of 9 true failures. The CDD score will require prospective validation.

  9. Do clinical features of Lesch-Nyhan disease correlate more closely with hypoxanthine or guanine recycling?

    PubMed

    Schretlen, David J; Callon, Wynne; Ward, Rebecca E; Fu, Rong; Ho, Tiffany; Gordon, Barry; Harris, James C; Jinnah, H A

    2016-01-01

    Lesch-Nyhan disease (LND) is a rare, X-linked recessive neurodevelopmental disorder caused by deficiency of hypoxanthine-guanine phosphoribosyltransferase (HGprt), an enzyme in the purine salvage pathway. HGprt has two functions; it recycles hypoxanthine and guanine. Which of these two functions is more relevant for pathogenesis is unclear because some evidence points to hypoxanthine recycling, but other evidence points to guanine recycling. In this study, we selectively assayed hypoxanthine (Hprt) and guanine (Gprt) recycling in skin fibroblasts from 17 persons with LND, 11 with an attenuated variant of the disease (LNV), and 19 age-, sex-, and race-matched healthy controls (HC). Activity levels of both enzymes differed across groups (p < 0.0001), but only Gprt distinguished patients with LND from those with LNV (p < 0.05). Gprt also showed slightly stronger correlations than Hprt with 13 of 14 measures of the clinical phenotype, including the severity of dystonia, cognitive impairment, and behavioral abnormalities. These findings suggest that loss of guanine recycling might be more closely linked to the LND/LNV phenotype than loss of hypoxanthine recycling.

  10. Severity of atopic disease inversely correlates with intestinal microbiota diversity and butyrate-producing bacteria.

    PubMed

    Nylund, L; Nermes, M; Isolauri, E; Salminen, S; de Vos, W M; Satokari, R

    2015-02-01

    The reports on atopic diseases and microbiota in early childhood remain contradictory, and both decreased and increased microbiota diversity have been associated with atopic eczema. In this study, the intestinal microbiota signatures associated with the severity of eczema in 6-month-old infants were characterized. Further, the changes in intestinal microbiota composition related to the improvement of this disease 3 months later were assessed. The severity of eczema correlated inversely with microbiota diversity (r = -0.54, P = 0.002) and with the abundance of butyrate-producing bacteria (r = -0.52, P = 0.005). During the 3-month follow-up, microbiota diversity increased (P < 0.001) and scoring atopic dermatitis values decreased (P < 0.001) in all infants. This decrease coincided with the increase in bacteria related to butyrate-producing Coprococcus eutactus (r = -0.59, P = 0.02). In conclusion, the high diversity of microbiota and high abundance of butyrate-producing bacteria were associated with milder eczema, thus suggesting they have a role in alleviating symptoms of atopic eczema.

  11. Finding Leading Indicators for Disease Outbreaks: Filtering, Cross-correlation, and Caveats

    PubMed Central

    Bloom, Ronald M.; Buckeridge, David L.; Cheng, Karen E.

    2007-01-01

    Bioterrorism and emerging infectious diseases such as influenza have spurred research into rapid outbreak detection. One primary thrust of this research has been to identify data sources that provide early indication of a disease outbreak by being leading indicators relative to other established data sources. Researchers tend to rely on the sample cross-correlation function (CCF) to quantify the association between two data sources. There has been, however, little consideration by medical informatics researchers of the influence of methodological choices on the ability of the CCF to identify a lead–lag relationship between time series. We draw on experience from the econometric and environmental health communities, and we use simulation to demonstrate that the sample CCF is highly prone to bias. Specifically, long-scale phenomena tend to overwhelm the CCF, obscuring phenomena at shorter wave lengths. Researchers seeking lead–lag relationships in surveillance data must therefore stipulate the scale length of the features of interest (e.g., short-scale spikes versus long-scale seasonal fluctuations) and then filter the data appropriately—to diminish the influence of other features, which may mask the features of interest. Otherwise, conclusions drawn from the sample CCF of bi-variate time-series data will inevitably be ambiguous and often altogether misleading. PMID:17068353

  12. A stereological study on the correlation of inferior turbinate hypertrophy and paranasal sinus disease.

    PubMed

    Ural, Ahmet; Songu, Murat; Adibelli, Zehra Hilal; Candan, Huseyin

    2014-09-01

    The objective of this study is to investigate the correlation between inferior turbinate size and paranasal sinus opacification on computerized tomography (CT) scans. Paranasal sinus CT scans of a total of 185 patients (92 males, 93 females) were examined in terms of sinus opacification. Sizes of the inferior turbinates were measured using stereological method and these sizes in normal and opacified paranasal sinuses are compared using one-way analysis of variance. Scans of 185 patients (93 female, 92 male) aged between 12 and 84 (mean 37.85 ± 16.27) years were examined in this study. Sizes of the inferior turbinates were found to be increased significantly in case of opacification of ipsilateral maxillary and anterior ethmoid sinuses (p = 0.000 and p = 0.4, respectively) on both sides. On the other hand, such a relationship could not be demonstrated for sizes of inferior turbinates with opacified or non-opacified posterior ethmoid, frontal and sphenoid sinuses. In conclusion, the combination of CT and the Cavalieri principle can provide an unbiased, direct, and assumption-free estimate of the regions of interest. The presented method can be efficiently applied without any need for special software, additional equipment, or personnel than that required for routine CT in daily use. Paranasal sinus disease, especially the inflammatory diseases of maxillary and anterior ethmoid sinuses, must be carefully investigated in cases with inferior turbinate hypertrophy.

  13. Pathological and Clinical Correlation between Celiac Disease and Helicobacter Pylori Infection; a Review of Controversial Reports.

    PubMed

    Rostami-Nejad, Mohammad; Javad Ehsani-Ardakani, Mohammad; Assadzadeh, Hamid; Shahbazkhani, Bijan; Ierardi, Enzo; Losurdo, Giuseppe; Zojaji, Homayon; Alizadeh, Amirhoshang Mohammad; Naderi, Nosratollah; Sadeghi, Amir; Zali, Mohammad Reza

    2016-04-01

    There are overwhelming reports and descriptions about celiac associated disorders. Although there is a clear genetic association between celiac disease (CD) and some gastrointestinal disorders, there are controversial reports claiming an association between CD and Helicobacter pylori (H. pylori) infection. Different studies indicated the possible association between lymphocytic gastritis and both CD and H. pylori infection, although this evidence is not consistently accepted. Also it was shown that an increase in intraepithelial lymphocytes count is associated with both H. pylori infection and celiac disease. Therefore the following questions may raise: how far is this infection actually related to CD?, which are the underlying patho-mechanisms for these associations? what are the clinical implications? what is the management? and what would be the role of gluten free diet in treating these conditions? PubMed (PubMed Central), Ovid, ISI of web knowledge, and Google scholar were searched for full text articles published between 1985 and 2015. The associated keywords were used, and papers described particularly the impact of pathological and clinical correlation between CD and H. pylori infection were identified. In this review we tried to answer the above questions and discussed some of the recent developments in the pathological and clinical aspects of CD and H. pylori infection.

  14. Ophthalmologic correlates of disease severity in children and adolescents with Wolfram syndrome

    PubMed Central

    Hoekel, James; Chisholm, Smith Ann; Al-Lozi, Amal; Hershey, Tamara; Tychsen, Lawrence

    2015-01-01

    Purpose To describe an ophthalmic phenotype in children at relatively early stages of Wolfram syndrome. Methods Quantitative ophthalmic testing of visual acuity, color vision, automated visual field sensitivity, optic nerve pallor and cupping, and retinal nerve fiber layer (RNFL) thickness assessed by optical coherence tomography (OCT) was performed in 18 subjects 5–25 years of age. Subjects were also examined for presence or absence of afferent pupillary defects, cataracts, nystagmus, and strabismus. Results Subnormal visual acuity was detected in 89% of subjects, color vision deficits in 94%, visual field defects in 100%, optic disk pallor in 94%, abnormally large optic nerve cup:disk ratio in 33%, thinned RNFL in 100%, afferent pupillary defects in 61%, cataracts in 22%, nystagmus in 39%, and strabismus in 39% of subjects. RNFL thinning (P < 0.001), afferent pupillary defects (P = 0.01), strabismus (P = 0.04), and nystagmus (P = 0.04) were associated with more severe disease using the Wolfram United Rating Scale. Conclusions Children and adolescents with Wolfram syndrome have multiple ophthalmic markers that correlate with overall disease severity. RNFL thickness measured by OCT may be the most reliable early marker. PMID:25439303

  15. Circulating plasma cells in multiple myeloma: characterization and correlation with disease stage.

    PubMed

    Rawstron, A C; Owen, R G; Davies, F E; Johnson, R J; Jones, R A; Richards, S J; Evans, P A; Child, J A; Smith, G M; Jack, A S; Morgan, G J

    1997-04-01

    The aim of this study was to develop a flow cytometric test to quantitate low levels of circulating myeloma plasma cells, and to determine the relationship of these cells with disease stage. Cells were characterized using five-parameter flow cytometric analysis with a panel of antibodies, and results were evaluated by comparison with fluorescent consensus-primer IgH-PCR. Bone marrow myeloma plasma cells, defined by high CD38 and Syndecan-1 expression, did not express CD10, 23, 30, 34 or 45RO, and demonstrated weak expression of CD37 and CD45. 65% of patients had CD19- 56+ plasma cells, 30% CD19- 56(low), and 5% CD19+ 56+, and these two antigens discriminated myeloma from normal plasma cells, which were all CD19+ 56(low). Peripheral blood myeloma plasma cells had the same composite phenotype, but expressed significantly lower levels of CD56 and Syndecan-1, and were detected in 75% (38/51) of patients at presentation, 92% (11/12) of patients in relapse, and 40% (4/10) of stem cell harvests. Circulating plasma cells were not detectable in patients in CR (n = 9) or normals (n = 10), at a sensitivity of up to 1 in 10,000 cells. There was good correlation between the flow cytometric test and IgH-PCR results: myeloma plasma cells were detectable by flow cytometry in all PCR positive samples, and samples with no detectable myeloma plasma cells were PCR negative. Absolute numbers decreased in patients responding to treatment, remained elevated in patients with refractory disease, and increased in patients undergoing relapse. We conclude that flow cytometry can provide an effective aternative to IgH-PCR that will allow quantitative assessment of low levels of residual disease.

  16. Possible Correlation of Transfusion Transmitted Diseases with Rh type and ABO Blood Group System

    PubMed Central

    Tyagi, Surabhi; Tyagi, Alok

    2013-01-01

    Background: Screening of blood is mandatory for transfusion transmitted diseases and is routinely done in the blood banks. As blood is the major source transmission of hepatitis B, hepatitis C, human immunodeficiency virus & many other diseases the hazards can be minimised by effective donor selection and screening. Aim: To find out the correlation between the transfusion transmitted diseases and blood groups and the seroprevalence of HIV, HBV, HCV & syphilis among the apparently healthy human blood donors. Study, Setting & Design: This retrospective study was conducted at the blood bank of a tertiary health care teaching centre for a period of four years. Material and Methods: All voluntary and replacement donors reporting to the blood bank were screened for HIV-1 & 2, HBsAg, HCV and Syphilis. Anti–HIV -1 & 2, HBsAg & anti - HCV was tested using the appropriate Enzyme–linked immunosorbent assay (ELISA) technique using micro–elisa kit supplied by J.Mitra & Co.Ltd. The seropositive samples were again tested on ELISA kits of RFCL &/or BIORAD for further confirmation & ruling out any false positive or false negative results. The rapid plasma reagain (RPR) test was used for estimation of syphilis infection. Statistical Analysis: The data entry was carried out using Microsoft office excel worksheet and was analysed by percentage and comparison. Results: Total of 6000 donors were screened which included voluntary and replacement donors. Seroprevalence of HIV (0.1833 %), HCV (1.28%), HBsAg (1.5833 %) and syphilis (0.4333 %) was detected. In the study done it was also noted - that the NEGATIVE blood groups were more prone to TTIs. Blood group A negative was more prone to TTIs with HIV, HBsAg and VDRL while blood group B negative was more affected by HCV. Conclusion: Seroprevalence of these infections shows that routine screening is a must for blood and blood product safe transfusion. Do negative blood groups predispose to TTIs? A finding which makes us think…. PMID

  17. Possible Correlation of Transfusion Transmitted Diseases with Rh type and ABO Blood Group System.

    PubMed

    Tyagi, Surabhi; Tyagi, Alok

    2013-09-01

    Screening of blood is mandatory for transfusion transmitted diseases and is routinely done in the blood banks. As blood is the major source transmission of hepatitis B, hepatitis C, human immunodeficiency virus & many other diseases the hazards can be minimised by effective donor selection and screening. To find out the correlation between the transfusion transmitted diseases and blood groups and the seroprevalence of HIV, HBV, HCV & syphilis among the apparently healthy human blood donors. Study, Setting & Design: This retrospective study was conducted at the blood bank of a tertiary health care teaching centre for a period of four years. All voluntary and replacement donors reporting to the blood bank were screened for HIV-1 & 2, HBsAg, HCV and Syphilis. Anti-HIV -1 & 2, HBsAg & anti - HCV was tested using the appropriate Enzyme-linked immunosorbent assay (ELISA) technique using micro-elisa kit supplied by J.Mitra & Co.Ltd. The seropositive samples were again tested on ELISA kits of RFCL &/or BIORAD for further confirmation & ruling out any false positive or false negative results. The rapid plasma reagain (RPR) test was used for estimation of syphilis infection. The data entry was carried out using Microsoft office excel worksheet and was analysed by percentage and comparison. Total of 6000 donors were screened which included voluntary and replacement donors. Seroprevalence of HIV (0.1833 %), HCV (1.28%), HBsAg (1.5833 %) and syphilis (0.4333 %) was detected. In the study done it was also noted - that the NEGATIVE blood groups were more prone to TTIs. Blood group A negative was more prone to TTIs with HIV, HBsAg and VDRL while blood group B negative was more affected by HCV. Seroprevalence of these infections shows that routine screening is a must for blood and blood product safe transfusion. Do negative blood groups predispose to TTIs? A finding which makes us think….

  18. Neuropsychological Correlates of Capacity Determinations in Alzheimer’s Disease: Implications for Assessment

    PubMed Central

    Palmer, Barton W.; Ryan, Kerry A.; Kim, H. Myra; Karlawish, Jason H.; Appelbaum, Paul S.; Kim, Scott Y. H.

    2011-01-01

    Objectives To explore the neuropsychological correlates of the capacity to consent to research and to appoint a research proxy among persons with Alzheimer’s disease. Design, Setting, and Participants Interview study of 77 persons with Alzheimer’s disease recruited through an Alzheimer’s disease research center and a memory disorder clinic. Measurements The capacity to consent to two research scenarios (a drug randomized clinical trial and a neurosurgical clinical trial) and the capacity to appoint a research proxy were determined by five experienced consultation psychiatrists who rendered categorical judgments based on videotaped interviews of the MacArthur Competence Assessment Tool-Clinical Research (MacCAT-CR) and the Capacity to Appoint a Proxy Assessment (CAPA). Mattis Dementia Rating Scale-2 (DRS-2) was used to assess neuropsychological functioning. Results The capacity to appoint a proxy and to consent to the drug randomized clinical trial, as determined by a majority or greater opinion of the 5-psychiatrist panel, were predicted by Conceptualization and Initiation/Perseveration subscales whereas the capacity to consent to a neurosurgical randomized clinical trial was predicted by the Memory subscale. Furthermore, the more lenient individual psychiatrists’ judgments were predicted by the Conceptualization subscale whereas the stricter psychiatrists’ judgments were predicted by the Memory subscale. Conclusions How experienced psychiatrists view Alzheimer’s patients’ capacity for consenting to research and for appointing a proxy may be related to the patients’ conceptualization and memory functioning. More explicit and standardized guidance on the role of short term memory in capacity determinations may be useful. PMID:23498384

  19. eNOS correlates with mitochondrial biogenesis in hearts of congenital heart disease with cyanosis.

    PubMed

    Xiao, Juan; Chen, Lin; Wang, Xuefeng; Liu, Mei; Xiao, Yingbin

    2012-09-01

    Mitochondrial biogenesis program in heart appears to exhibit adaptive remodeling following biomechanical and oxidative stress. The adaptive mechanisms that protect myocardium metabolism during hypoxia are coordinated in part by nitric oxide (NO). To observe mitochondrial biogenesis and nitric oxide synthase (NOS) expression in hearts of congenital heart disease with cyanosis, discuss mitochondrial response to chronic hypoxia in myocardium. 20 patients with cyanotic (n=10) or acyanotic cardiac defects (n=10) were investigated. Samples from the right ventricular outflow tract myocardium taken during operation were studied. Morphometric analysis of mitochondria was performed with transmission electron microscope. Relative mtDNA/nDNA ratio was determined with real-time PCR. Cytochrome c oxidase subunit I (COXI), peroxisome-proliferator-activated receptor γ coactivator-1α (PGC-1α), nuclear respiratory factor 1 (NRF1), and mitochondrial transcription factor A (Tfam) transcript levels were detected by real-time fluorescent RT-PCR. COXI and nNOS, iNOS and eNOS protein levels were measured with western blot. Mitochondrial volume density (Vv) and numerical density (Nv) were significantly elevated in patients with cyanotic compared to acyanotic congenital heart disease. Elevated mtDNA and up-regulated COXI, PGC-1α, NRF1 and Tfam mRNA levels were observed in cyanotic patients. Protein levels of COXI and eNOS were significantly higher in the myocardium of cyanotic than of acyanotic patients. PGC-1α transcript levels correlated with the levels of eNOS. Mitochondrial biogenesis is activated in right ventricular outflow tract myocardium in congenital heart disease with cyanosis, which could be the adaptive response to chronic hypoxia and possibly involves eNOS up-regulation.

  20. Recurrence of gastroesophageal reflux disease correlated with a short dinner-to-bedtime interval.

    PubMed

    Yang, Jae Hoon; Kang, Ho Suk; Lee, Sun-Young; Kim, Jeong Hwan; Sung, In-Kyung; Park, Hyung Seok; Shim, Chan Sup; Jin, Choon Jo

    2014-04-01

    Gastroesophageal reflux disease (GERD) can be classified into erosive reflux disease (ERD) and nonerosive gastroesophageal reflux disease (NERD). We aimed to compare the recurrence rates of ERD and NERD and determine the risk factors related to the recurrence. This prospective study comprised 337 consecutive adults who completed questionnaires on their GERD symptoms, height, weight, sleeping position, dinner time, and bedtime. During upper gastrointestinal endoscopy, the presence of a hiatal hernia and mucosal breaks in the low esophagus, esophageal length (the distance between the Z-line and the incisors), and the esophageal length-to-height ratio were recorded. Recurrence was diagnosed when the patient required additional proton pump inhibitor medication after initial recovery with 4-8 weeks of treatment. Recurrence was experienced by 47 (26.0%) of 181 GERD patients. The recurrence rate did not differ between the 48 ERD (27.1%) and 133 NERD (25.6%) patients (P = 0.849). Of the various factors studied, recurrence was found to be correlated with a dinner-to-bedtime interval of less than 3 h (P = 0.002), globus sensation (P = 0.031), and old age (P = 0.047). Logistic regression analysis revealed that a short interval between dinner and bedtime was the only factor significantly related to the recurrence (P = 0.002). Both ERD and NERD patients who sleep within 3 h after eating have a higher risk of GERD recurrence. Our findings highlight the impact of a short dinner-to-bedtime interval on the recurrence of GERD (ClinicalTrials.gov ID: KCT0000134). © 2013 Journal of Gastroenterology and Hepatology Foundation and Wiley Publishing Asia Pty Ltd.

  1. [Changes of fecal flora and its correlation with inflammatory indicators in patients with inflammatory bowel disease].

    PubMed

    Zhang, Ting; Chen, Ye; Wang, Zhongqiu; Zhou, Youlian; Zhang, Shaoheng; Wang, Pu; Xie, Shan; Jiang, Bo

    2013-10-01

    To investigate the changes in fecal flora and its correlation with the occurrence and progression of inflammatory bowel disease (IBD). We collected fresh fecal specimens from 167 IBD patients (including 113 with ulcerative colitis and 54 with Crohn's disease) and 54 healthy volunteers. The fecal flora was analyzed by gradient dilution method and the data of inflammatory markers including WBC, PLT, CRP and ESR were collected to assess the association between the fecal flora and the inflammatory markers. The species Enterrococcus (6.60∓0.23, P<0.01), Saccharomyces (2.22∓0.27, P<0.05), Bacteriodes (5.57∓0.28, P<0.001), Bifidobacterium (5.08∓0.30, P<0.01), Peptococcus (6.22∓0.25, P<0.001), Lactobacillus (6.00∓0.26, P<0.001), and Clostridium (3.57∓0.30, P<0.05) all increased significantly, while Eubacterium (1.56∓0.24, P<0.01) reduced markedly in patients with ulcerative colitis compared with those in the control subjects. Enterrococcus (6.93∓0.28, P<0.01), Saccharomyces (2.73∓0.37, P<0.01), Bacteriodes (4.32∓0.52, P<0.05), Bifidobacterium (4.88∓0.42, P<0.05), Peptococcus (6.19∓0.32, P<0.01) and Lactobacillus (4.73∓0.47, P<0.001) all increased significantly and Eubacterium (1.01∓0.29, P<0.01) and Clostridium (0.87∓0.31, P<0.01) decreased in patients with Crohn's disease. The positivity rates of bacterial culture were consistent with the results of quantitative analysis of the fecal flora. The changes in fecal flora did not show a significant correlation with these inflammatory markers. IBD patients have fecal flora imbalance compared with the healthy controls, and this imbalance may contribute to the occurrence and progression of IBD. The decline of Eubacterium contributes to the occurrence and development of IBD.

  2. Experiential and Doctrinal Religious Knowledge Categorization in Parkinson's Disease: Behavioral and Brain Correlates

    PubMed Central

    Modestino, Edward J.; O'Toole, Partrick; Reinhofer, AnnaMarie

    2016-01-01

    Recent studies suggest changes in religious cognition in a subgroup of patients with Parkinson's disease (PD e.g., Butler et al., 2011). It is unclear whether this deficit extends to both doctrinal and experiential categorization forms of religious cognition. Kapogiannis et al. (2009b) dissociated experiential and doctrinal religious knowledge to different neural networks using fMRI. We examined Kapogiannis' dissociation against the background of PD side of onset (LOPD, ROPD), assessing performance both On- and Off-medication. In the behavioral portion of the study, we used a statement classification task in combination with scholar derived test sets for experiential and doctrinal religious knowledge categorization in conjunction with neuropsychological measures. In the neuroimaging portion of the study, we expanded on Kapogiannis' study by examining the same networks in PD. The behavioral data revealed that all groups rated (categorized) the scholar derived tests of experiential and doctrinal significantly differently than the scholars. All groups, including the scholars, classified more phrases as doctrinal than experiential. Religious cognition differed in the PD groups: those with PD Off-medication and LOPD Off-medication comprehended scholar defined experiential phrases with more difficulty, making them more likely to be classified as mixed or doctrinal. This was in contrast to the subjective frequency of classification of phrases as experiential paired with a cognitive decline in PD Off-medication; whereas PD On-medication showed a positive correlation with cognitive state and subjective doctrinal classification. For ROPD, cognitive state was associated with subjective experiential and doctrinal frequency of classification. With more intact intellect, there was a greater likelihood of classifying phrases subjectively as mixed, and the converse for experiential. Furthermore, religiosity negatively predicted subjective doctrinal frequency in LOPD, with the

  3. The clinical manifestations of lumbar disease are correlated with self-rating depression scale scores.

    PubMed

    Tetsunaga, Tomoko; Misawa, Haruo; Tanaka, Masato; Sugimoto, Yoshihisa; Tetsunaga, Tomonori; Takigawa, Tomoyuki; Ozaki, Toshifumi

    2013-05-01

    Depression can exacerbate symptoms of chronic pain and worsen disability. The symptoms of lumbar disease may be particularly sensitive to psychological state, but statistical associations between low back pain (LBP) severity and mental health status have not been established. Of the 151 patients with LBP, 122 completed questionnaires probing depressive symptoms, LBP severity, and degree of disability. In addition to completing self-report questionnaires, patients provided demographic and clinical information. A self-rating depression scale (SDS) was used to screen for depression. Pain and disability were assessed by the visual analog scale (VAS) and the Roland-Morris disability questionnaire (RDQ), respectively. Overall clinical severity was assessed using the Japanese Orthopaedic Association (JOA) score. Kendall's tau correlation coefficients were calculated to examine the relationships among these variables. Ninety-four patients (77 %) were in a depressive state as indicated by SDS score ≥40, including mild depression group (47 patients, SDS score from 40 to 49) and depression group (47 patients, SDS score ≥50). There were only 28 patients in the no depression group (SDS score ≤39). There was no significant difference in both age and pain duration among the three groups. The mean VAS score in the depression group (70 ± 19 mm) was higher than both no depression (41 ± 24 mm) and mild depression groups (52 ± 21 mm). The mean JOA score in the no depression group (14 ± 5.0 points) was higher than both mild depression (12 ± 4.0 points) and depression groups (10 ± 6.0 points). The mean RDQ in the depression group (15.1 ± 6.0 points) was higher than both no depression (6.4 ± 5.0 points) and mild depression groups (10.9 ± 5.4 points). Factors significantly correlated with SDS score included VAS, JOA score, and RDQ score. In contrast, SDS did not correlate with patient age or pain duration. The majority of chronic LBP patients examined

  4. High pneumococcal density correlates with more mucosal inflammation and reduced respiratory syncytial virus disease severity in infants.

    PubMed

    Vissers, Marloes; Ahout, Inge M; van den Kieboom, Corné H; van der Gaast-de Jongh, Christa E; Groh, Laszlo; Cremers, Amelieke J; de Groot, Ronald; de Jonge, Marien I; Ferwerda, Gerben

    2016-03-17

    Respiratory syncytial virus (RSV) is an important cause of lower respiratory tract infections in infants. A small percentage of the infected infants develops a severe infection, while most of these severely ill patients were previously healthy. It remains unclear why these children develop severe RSV infections. In this study, we investigate whether pneumococcal nasopharyngeal carriage patterns correlate with mucosal inflammation and severity of disease. In total, 105 infants hospitalized with RSV infection were included and recovery samples were taken from 42 patients. The presence and density of Streptococcus pneumoniae was determined by RT qPCR to study its relation to viral load, inflammation (MMP-9 and IL-6) and severity of RSV disease. We show that pneumococcal presence or absence in the nasopharynx does not correlate with viral load, inflammation or severity of disease. However, when pneumococcus is present in patients, a higher nasopharyngeal pneumococcal density was correlated with a higher RSV load, higher MMP-9 levels and a less severe course of disease. Our results show correlations between S. pneumoniae density and viral load, inflammation and disease severity, suggesting that pneumococcal density may be an indicator for severity in paediatric RSV disease.

  5. Correlation of low levels of nitrite and high levels of fetal hemoglobin in patients with sickle cell disease at baseline

    PubMed Central

    Elias, Darcielle Bruna Dias; Rocha, Lilianne Brito da Silva; Cavalcante, Maritza Barbosa; Pedrosa, Alano Martins; Justino, Izabel Cristina Bandeira; Gonçalves, Romélia Pinheiro

    2012-01-01

    Background Sickle cell disease is a hemoglobinopathy characterized by hemolytic anemia, increased susceptibility to infections and recurrent vaso-occlusive crises that reduces the quality of life of sufferers. Objective To evaluate the correlation of the levels of lactate dehydrogenase, malonaldehyde and nitrite to fetal hemoglobin in patients with sickle cell disease not under treatment with hydroxyurea in outpatients at a university hospital in Fortaleza, Ceará, Brazil. Methods Forty-four patients diagnosed with sickle cell disease were enrolled at baseline. Diagnosis was confirmed by evaluating the beta globin gene using polymerase chain reaction-restriction fragment length polymorphism. The concentration of fetal hemoglobin was obtained by high-performance liquid chromatography. Serum levels of nitrite, malonaldehyde and lactate dehydrogenase were measured by biochemical methods. Results Significantly higher levels of lactate dehydrogenase, nitrite and malonaldehyde were observed in patients with sickle cell disease compared to a control group. The study of the correlation between fetal hemoglobin levels and these variables showed a negative correlation with nitrite levels. No correlation was found between fetal hemoglobin and malonaldehyde or lactate dehydrogenase. When the study population was stratified according to fetal hemoglobin levels, a decrease in the levels of nitrite was observed with higher levels of fetal hemoglobin (p-value = 0.0415). Conclusion The results show that, similar to fetal hemoglobin levels, the concentration of nitrite can predict the clinical course of the disease, but should not be used alone as a modulator of prognosis in patients with sickle cell disease. PMID:23049438

  6. Toxoplasmosis – A Global Threat. Correlation of Latent Toxoplasmosis with Specific Disease Burden in a Set of 88 Countries

    PubMed Central

    Flegr, Jaroslav; Prandota, Joseph; Sovičková, Michaela; Israili, Zafar H.

    2014-01-01

    Background Toxoplasmosis is becoming a global health hazard as it infects 30–50% of the world human population. Clinically, the life-long presence of the parasite in tissues of a majority of infected individuals is usually considered asymptomatic. However, a number of studies show that this ‘asymptomatic infection’ may also lead to development of other human pathologies. Aims of the Study The purpose of the study was to collect available geoepidemiological data on seroprevalence of toxoplasmosis and search for its relationship with mortality and disability rates in different countries. Methods and Findings Prevalence data published between 1995–2008 for women in child-bearing age were collected for 88 countries (29 European). The association between prevalence of toxoplasmosis and specific disease burden estimated with age-standardized Disability Adjusted Life Year (DALY) or with mortality, was calculated using General Linear Method with Gross Domestic Product per capita (GDP), geolatitude and humidity as covariates, and also using nonparametric partial Kendall correlation test with GDP as a covariate. The prevalence of toxoplasmosis correlated with specific disease burden in particular countries explaining 23% of variability in disease burden in Europe. The analyses revealed that for example, DALY of 23 of 128 analyzed diseases and disease categories on the WHO list showed correlations (18 positive, 5 negative) with prevalence of toxoplasmosis and another 12 diseases showed positive trends (p<0.1). For several obtained significant correlations between the seroprevalence of toxoplasmosis and specific diseases/clinical entities, possible pathophysiological, biochemical and molecular explanations are presented. Conclusions The seroprevalence of toxoplasmosis correlated with various disease burden. Statistical associations does not necessarily mean causality. The precautionary principle suggests however that possible role of toxoplasmosis as a triggering

  7. Toxoplasmosis--a global threat. Correlation of latent toxoplasmosis with specific disease burden in a set of 88 countries.

    PubMed

    Flegr, Jaroslav; Prandota, Joseph; Sovičková, Michaela; Israili, Zafar H

    2014-01-01

    Toxoplasmosis is becoming a global health hazard as it infects 30-50% of the world human population. Clinically, the life-long presence of the parasite in tissues of a majority of infected individuals is usually considered asymptomatic. However, a number of studies show that this 'asymptomatic infection' may also lead to development of other human pathologies. The purpose of the study was to collect available geoepidemiological data on seroprevalence of toxoplasmosis and search for its relationship with mortality and disability rates in different countries. Prevalence data published between 1995-2008 for women in child-bearing age were collected for 88 countries (29 European). The association between prevalence of toxoplasmosis and specific disease burden estimated with age-standardized Disability Adjusted Life Year (DALY) or with mortality, was calculated using General Linear Method with Gross Domestic Product per capita (GDP), geolatitude and humidity as covariates, and also using nonparametric partial Kendall correlation test with GDP as a covariate. The prevalence of toxoplasmosis correlated with specific disease burden in particular countries explaining 23% of variability in disease burden in Europe. The analyses revealed that for example, DALY of 23 of 128 analyzed diseases and disease categories on the WHO list showed correlations (18 positive, 5 negative) with prevalence of toxoplasmosis and another 12 diseases showed positive trends (p<0.1). For several obtained significant correlations between the seroprevalence of toxoplasmosis and specific diseases/clinical entities, possible pathophysiological, biochemical and molecular explanations are presented. The seroprevalence of toxoplasmosis correlated with various disease burden. Statistical associations does not necessarily mean causality. The precautionary principle suggests however that possible role of toxoplasmosis as a triggering factor responsible for development of several clinical entities deserves

  8. Correlation between the different pH-metry scores in gastroesophageal reflux disease in children

    PubMed Central

    Lupu, Vasile Valeriu; Ignat, Ancuţa; Paduraru, Gabriela; Ciubara, Anamaria; Moscalu, Mihaela; Marginean, Cristina Oana; Burlea, Marin

    2016-01-01

    Abstract The 24-hour esophageal pH-metry is the most widely used method to diagnose the gastroesophageal reflux disease (GERD). The study compares the different scores obtained during the 24-hour esophageal pH-metry. A retrospective study over 5 years including 234 children (1 month and 18 years old) admitted in a pediatric gastroenterology regional center in Northeast Romania, with suspicion of GERD. They underwent 24- hour esophageal pH-metry, and the scores obtained (Boix-Ochoa, DeMeester, Johnson-DeMeester) were compared. Out of the 234 children, 172 (73.50%) had positive Boix-Ochoa score and 62 (26.50%) had normal Boix-Ochoa score (<11.99). Based on the DeMeester score, 149 children (63.68%) were positive and 85 (36.32%) were negative. The correlation of the Demeester score with the Boix-Ochoa score was very high (r = 0.978, P <  < 0.01, 95% confidence interval). Considering the Johnson-DeMeester score, 120 cases (51.28%) had GERD and 114 (48.72%) did not. The correlation of the Johnson-DeMeester score with the Boix-Ochoa score was still high (r = 0.94, P <  < 0.01, 95% 95% confidence interval). As considered until now, the Boix-Ochoa score is the most accurate score to be used in pediatrics for the diagnosis of GERD. The use of the different scores—Boix-Ochoa, DeMeester, Johnson-DeMeester—showed a high sensitivity and specificity of the pH-metry measurements applied to the study lot, but the last score has a higher risk of false-negative results. PMID:27367982

  9. Correlation of Levels of Oncostatin M Cytokine in Crevicular Fluid and Serum in Periodontal Disease

    PubMed Central

    Thorat, ManojKumar; AR, Pradeep; Garg, Garima

    2010-01-01

    Aim The aim of this study was to measure the level of Oncostatin M (OSM) a gp130 cytokine in the gingival crevicular fluid (GCF) and serum of chronic periodontitis patients and to find any correlation between them before and after periodontal therapy (scaling and root planing, SRP). Methodology 60 subjects (age 25–50 years) were enrolled into three groups (n=20 per group), group I (healthy), group II (gingivitis) and group III (chronic periodontitis). Group III subjects were followed for 6–8 weeks after the initial periodontal therapy (SRP) as the group IV (after periodontal therapy). Clinical parameters were assessed as gingival index (GI), probing depth (PD), clinical attachment level (CAL), and radiographic evidence of bone loss. GCF and serum levels of OSM were measured by using Enzyme Linked Immunosorbent Assay (ELISA). Results It was found that mean OSM levels had been elevated in both the GCF and serum of chronic periodontitis subjects (726.65 ± 283.56 and 65.59 ± 12.37 pg·mL−1, respectively) and these levels were decreased proportionally after the periodontal therapy (95.50 ± 38.85 and 39.98 ± 16.69 pg·mL−1 respectively). However, OSM was detected in GCF of healthy subjects (66.15 ± 28.10 pg·mL−1) and gingivitis-suffering subjects (128.33 ± 22.96 pg·mL−1) and was found as below the detectable limit (≈0.0 pg·mL−1) in the serum of same subjects. Significant correlation has been found between clinical parameters and GCF-serum levels of OSM. Conclusion Increased OSM level both in the GCF and serum, and the decreased levels after initial periodontal therapy (SRP) may suggest a use as an inflammatory bio-marker in the periodontal disease. PMID:21404969

  10. Correlation analysis between ApoM gene-promoter polymorphisms and coronary heart disease

    PubMed Central

    Zhang, Yao; Huang, Li-Zhu; Liu, Yan; Yang, Qing-Ling; Zhou, Xin

    2016-01-01

    Summary Objectives: Apolipoprotein M (ApoM), a 25-kDa plasma protein belonging to the lipocalin protein family, is predominantly associated with high-density lipoprotein cholesterol (HDL-C). Studies have suggested ApoM to be important for the formation of pre-β-HDL and to increase cholesterol efflux from macrophage foam cells. The aim of this study was to explore the association of single-nucleotide polymorphisms(SNPs) in the ApoM promoter with coronary atherosclerotic disease (CAD), and the contribution of latent factors. Methods: ApoM was measured in samples from two separate case–control studies, of whom 88 patients developed CAD and 88 were controls. Whole-blood samples from subjects were genotyped by PCR-restriction fragment length polymorphism (PCR-RFLP). Luciferase activities were measured for HepG2 cells with two SNPs, rs805296 (T-778C) and rs940494 (T-855C), and after interfering with or overexpressing the predicted transcription factors. The ability of the SNPs to combine with nucleoproteins was analysed by electophoretic mobility shift assay (EMSA). Results: Mean plasma ApoM concentrations in the CAD and non-CAD groups were 9.58 ± 4.30 and 12.22 ± 6.59 μg/ ml, respectively. Correlation studies of ApoM concentrations with several analytes showed a marked positive correlation with HDL-C, fasting plasma glucose and triglyceride levels. The CC genotype showed lower luciferase activities compared to the TC and TT genotypes. The ApoM-855 mutant-typecould bind to the AP-2α. Interference and overexpression of AP-2 increased and decreased luciferase activities of the wild and mutant types to different degrees. Conclusion:: ApoM may be a biomarker of CAD. ApoM- 855 T→C substitution provides binding sites for AP-2α and reduces ApoM transcription activity. PMID:27841911

  11. Caregiver Burden in Alzheimer’s Disease: Cross Sectional and Longitudinal Patient Correlates

    PubMed Central

    Mohamed, Somaia; Rosenheck, Robert; Lyketsos, Kostas; Schneider, Lon S.

    2014-01-01

    Objectives Alzheimer disease (AD) imposes a severe burden upon patients and their caregivers. Although there is substantial evidence of the adverse impact of burden, considerably less is known about its specific correlates and potential causes. Design We use data from the Clinical Antipsychotic Trials of Intervention Effectiveness (CATIE)-AD study to examine the relationship of burden and depression among AD caregivers to patient and caregiver sociodemographic characteristics, patients’ cognitive status, psychiatric and behavioral symptoms, functional abilities, quality of life, and intensity of care provided by caregivers. Setting CATIE-AD included outpatients in usual care settings, and assessed treatment outcomes over nine-months. Participants Data were examined from 421 ambulatory outpatients with a diagnosis of dementia of the Alzheimer's type or probable AD with agitation or psychosis. Measures The Burden Interview, the Beck Depression Inventory, and the Caregiver Distress Scale were used to evaluate caregiver burden. Results More severe psychiatric and behavioral problems and decreased patient quality of life, as well as lower functional capability were significantly associated with higher levels of burden and depression among caregivers at baseline. Six month changes showed that decreased symptoms and improved quality of life were associated with decreased burden and accounted for most of the explained variance in change in burden measures. Conclusion Severity of psychiatric symptoms, behavioral disturbances and patients’ quality of life are the main correlates of caregivers’ experience burden. Psychosocial and pharmacologic interventions targeting these two aspects of the disorder are likely to not only alleviate patient suffering but also promote caregiver well-being. PMID:20808108

  12. Correlation between myocardial scintigraphy and CT angiography in the evaluation of coronary disease.

    PubMed

    Azevedo, Jader Cunha de; Ferreira Junior, Diógenes de Souza; Vieira, Felipe Carvalhinho; Prezotti, Laís Santos; Simões, Luciana Silveira; Nacif, Marcelo Souto; Rochitte, Carlos Eduardo; Oliveira Junior, Amarino de Carvalho; Mesquita, Evandro Tinoco; Mesquita, Cláudio Tinoco

    2013-03-01

    Coronary multidetector CT angiography (CTA) has shown good accuracy for detection of coronary stenosis. Although this is a promising technique for the evaluation of CAD, its correlation with the functional expression of the disease is not yet well established. To evaluate whether the presence of CAD and the degree of coronary stenosis assessed by CT angiography are associated with changes in the Myocardial Perfusion Scintigraphy (MPS). This is a retrospective observational study, which included 99 consecutive patients with known or suspected CAD. MPS and CTA were conducted. We compared the presence of perfusion defects by MPS with the presence of CAD and the degree of luminal obstruction by CTA. For statistical analysis, Student's t-test, ANOVA, and Chi-square (or Fisher's exact test for n <5) tests were used. Multivariate analysis was performed using logistic regression: the level of significance was 5%. Mean age was 62 ± 11.4 years, with 46 (71.7%) men. The variable analysis was performed per patient (n = 99) and per coronary irrigation territory (n = 297). Of the 67 territories that had significant CAD by CTA, 44.8% had abnormal MPS. Considering the degree of stenosis, abnormal MPS was present in 18.7% of the territories with no significant stenosis, 45.28% of the territories with moderate stenosis, and 42.8% of the territories with severe injuries. CTA is a good method for exclusion of CAD. However, its use to evaluate the severity of stenosis and its functional impact has not shown good correlation.

  13. Adenosine plasma level correlates with homocysteine and uric acid concentrations in patients with coronary artery disease.

    PubMed

    Fromonot, J; Deharo, P; Bruzzese, L; Cuisset, T; Quilici, J; Bonatti, S; Fenouillet, E; Mottola, G; Ruf, J; Guieu, R

    2016-03-01

    The role of hyperhomocysteinemia in coronary artery disease (CAD) patients remains unclear. The present study evaluated the relationship between homocysteine (HCys), adenosine plasma concentration (APC), plasma uric acid, and CAD severity evaluated using the SYNTAX score. We also evaluated in vitro the influence of adenosine on HCys production by hepatoma cultured cells (HuH7). Seventy-eight patients (mean age ± SD: 66.3 ± 11.3; mean SYNTAX score: 19.9 ± 12.3) and 30 healthy subjects (mean age: 61 ± 13) were included. We incubated HuH7 cells with increasing concentrations of adenosine and addressed the effect on HCys level in cell culture supernatant. Patients vs. controls had higher APC (0.82 ± 0.5 μmol/L vs 0.53 ± 0.14 μmol/L; p < 0.01), HCys (15 ± 7.6 μmol/L vs 6.8 ± 3 μmol/L, p < 0.0001), and uric acid (242.6 ± 97 vs 202 ± 59, p < 0.05) levels. APC was correlated with HCys and uric acid concentrations in patients (Pearson's R = 0.65 and 0.52; p < 0.0001, respectively). The SYNTAX score was correlated with HCys concentration. Adenosine induced a time- and dose-dependent increase in HCys in cell culture. Our data suggest that high APC is associated with HCys and uric acid concentrations in CAD patients. Whether the increased APC participates in atherosclerosis or, conversely, is part of a protective regulation process needs further investigations.

  14. Correlation Between Bladder Pain Syndrome/Interstitial Cystitis and Pelvic Inflammatory Disease

    PubMed Central

    Chung, Shiu-Dong; Chang, Chao-Hsiang; Hung, Peir-Haur; Chung, Chi-Jung; Muo, Chih-Hsin; Huang, Chao-Yuan

    2015-01-01

    Abstract Pelvic inflammatory disease (PID) has been investigated in Western countries and identified to be associated with chronic pelvic pain and inflammation. Bladder pain syndrome/interstitial cystitis (BPS/IC) is a complex syndrome that is significantly more prevalent in women than in men. Chronic pelvic pain is a main symptom of BPS/IC, and chronic inflammation is a major etiology of BPS/IC. This study aimed to investigate the correlation between BPS/IC and PID using a population-based dataset. We constructed a case–control study from the Taiwan National Health Insurance program. The case cohort comprised 449 patients with BPS/IC, and 1796 randomly selected subjects (about 1:4 matching) were used as controls. A Multivariate logistic regression model was constructed to estimate the association between BPS/IC and PID. Of the 2245 sampled subjects, a significant difference was observed in the prevalence of PID between BPS/IC cases and controls (41.7% vs 15.4%, P < 0.001). Multivariate logistic regression analysis revealed that the odds ratio (OR) for PID among cases was 3.69 (95% confidence interval [CI]: 2.89–4.71). Furthermore, the ORs for PID among BPS/IC cases were 4.52 (95% CI: 2.55–8.01), 4.31 (95% CI: 2.91–6.38), 3.00 (95% CI: 1.82–4.94), and 5.35 (95% CI: 1.88–15.20) in the <35, 35–49, 50–64, and >65 years age groups, respectively, after adjusting for geographic region, irritable bowel syndrome, and hypertension. Joint effect was also noted, specifically when patients had both PID and irritable bowel disease with OR of 10.5 (95% CI: 4.88–22.50). This study demonstrated a correlation between PID and BPS/IC. Clinicians treating women with PID should be alert to BPS/IC-related symptoms in the population. PMID:26579800

  15. Rapid Eye Movement Sleep Behavior Disorder Symptoms Correlate with Domains of Cognitive Impairment in Parkinson's Disease

    PubMed Central

    Zhang, Jin-Ru; Chen, Jing; Yang, Zi-Jiao; Zhang, Hui-Jun; Fu, Yun-Ting; Shen, Yun; He, Pei-Cheng; Mao, Cheng-Jie; Liu, Chun-Feng

    2016-01-01

    Background: Rapid eye movement (REM) sleep behavior disorder (RBD) may be a risk factor for cognitive impairment in patients with Parkinson's disease (PD). However, little is known regarding the relation between the severity of RBD and the different domains of cognitive impairment. The aim of this study was: (1) to investigate the domains of cognitive impairment in patients with PD and RBD, and (2) to explore risk factors for PD-mild cognitive impairment (PD-MCI) and the relationship between RBD severity and impairment in different cognitive domains in PD. Methods: The participants were grouped as follows: PD without RBD (PD-RBD; n = 42), PD with RBD (PD + RBD; n = 32), idiopathic RBD (iRBD; n = 15), and healthy controls (HCs; n = 36). All participants completed a battery of neuropsychological assessment of attention and working memory, executive function, language, memory, and visuospatial function. The information of basic demographics, diseases and medication history, and motor and nonmotor manifestations was obtained and compared between PD-RBD and PD + RBD groups. Particular attention was paid to the severity of RBD assessed by the RBD Questionnaire-Hong Kong (RBDQ-HK) and the RBD Screening Questionnaire (RBDSQ), then we further examined associations between the severity of RBD symptoms and cognitive levels via correlation analysis. Results: Compared to PD-RBD subjects, PD + RBD patients were more likely to have olfactory dysfunction and their Epworth Sleepiness Scale scores were higher (P < 0.05). During neuropsychological testing, PD + RBD patients performed worse than PD-RBD patients, including delayed memory function, especially. The MCI rates were 33%, 63%, 33%, and 8% for PD-RBD, PD + RBD, iRBD, and HC groups, respectively. RBD was an important factor for the PD-MCI variance (odds ratio = 5.204, P = 0.018). During correlation analysis, higher RBDSQ and RBDQ-HK scores were significantly associated with poorer performance on the Trail Making Test-B (errors

  16. Sagittal balance is correlated with Parkinson's Disease clinical parameters: an overview of spinopelvic alignment on 175 consecutive cases.

    PubMed

    Bissolotti, Luciano; Berjano, Pedro; Zuccher, Paola; Zenorini, Andrea; Buraschi, Riccardo; Villafañe, Jorge Hugo; Negrini, Stefano

    2017-04-01

    The aim of this study was to describe the disease-related sagittal balance changes in relation to the sacro-pelvic morphology of Parkinson's Disease patients with different duration of disease. One hundred and seventy-five consecutive Parkinson's Disease (PD) patients (102 males, 73 females; age: 55-83 years) participated in the cross-sectional study. The clinical assessment included: Hoehn Yahr (H&Y) score; Tinetti score; plumb line (PL) distance from the spinous process of C7, L3 and S1 and kyphosis apex. Lumbar lordosis (LL), thoracic kyphosis (TK), spinosacral (SSA) and spinopelvic (SPA) angles, spinal tilt, pelvic incidence (PI), sacral slope (SS) and pelvic tilt (PT) were radiographically assessed. Spinosacral and spinopelvic were correlated with the duration of disease and Tinetti score, but not with age. We found a positive correlation between LL and both SSA and SPA. TK was significantly correlated with LL but not with pelvic parameters, while PI with SS and LL. Female gender, high PI and high LL together with a low PL-C7 distance can be considered as protective factors for spinal imbalance and fall risk; negative factors are represented by male gender, longer disease duration, higher H&Y Class, and low PL-L3 distance. Looking at the pelvis is revealing new important insights in spinal disease management, both surgical and rehabilitative.

  17. Olfactory functions in patients with psoriasis vulgaris: correlations with the severity of the disease.

    PubMed

    Aydın, Ersin; Tekeli, Hakan; Karabacak, Ercan; Altunay, İlknur Kıvanç; Aydın, Çigdem; Çerman, Aslı Aksu; Altundağ, Aytuğ; Salihoğlu, Murat; Çayönü, Melih

    2016-08-01

    It is well known that psoriasis is not only limited to skin, but a systemic autoimmune disease with various comorbidities. Olfactory dysfunction, one of as a common but lesser known symptom of patients with autoimmune diseases, often presents with smell loss. The aim of this study was to assess the olfactory functions in patients with psoriasis and to compare with healthy controls. A total of 50 patients with psoriasis and 43 control subjects were included to the study. The clinical severity of psoriasis was calculated by psoriasis area and severity index (PASI). Patients were classified into two groups according to PASI score as mild (PASI ≤10) and moderate-severe (PASI >10). Olfactory function was evaluated with "Sniffin'Sticks" test. Total test scores (max. 48 points) of threshold, discrimination, and identification (TDI) were classified as normal olfaction = normosmia (>30.3 points), decreased olfaction = hyposmia (16.5-30.3 points) and loss of olfaction = anosmia (<16.5 points). Psoriasis patients had significantly lower smell scores compared with healthy controls (p < 0.001). Of the 50 psoriasis patients, 40 (80 %) were hyposmic. We found negative correlation between TDI and PASI (r = -0.34, p = 0.014). The TDI scores of the patients with moderate-severe psoriasis (PASI score >10) were found to be significantly lower than the patients with mild psoriasis (PASI ≤10) (p < 0.001). Olfactory dysfunction in patients with psoriasis could be thought as a comorbidity as in other inflammatory disorders. Physicians should be aware of olfactory impairment when evaluating psoriasis patients in their clinical practice.

  18. Clinical Correlates of Mass Effect in Autosomal Dominant Polycystic Kidney Disease

    PubMed Central

    Kim, Hyunsuk; Park, Hayne Cho; Ryu, Hyunjin; Kim, Kiwon; Kim, Hyo Sang; Oh, Kook-Hwan; Yu, Su Jong; Chung, Jin Wook; Cho, Jeong Yeon; Kim, Seung Hyup; Cheong, Hae Il; Lee, Kyubeck; Park, Jong Hoon; Pei, York; Hwang, Young-Hwan; Ahn, Curie

    2015-01-01

    Mass effect from polycystic kidney and liver enlargement can result in significant clinical complications and symptoms in autosomal dominant polycystic kidney disease (ADPKD). In this single-center study, we examined the correlation of height-adjusted total liver volume (htTLV) and total kidney volume (htTKV) by CT imaging with hepatic complications (n = 461) and abdominal symptoms (n = 253) in patients with ADPKD. “Mass-effect” complications were assessed by review of medical records and abdominal symptoms, by a standardized research questionnaire. Overall, 91.8% of patients had 4 or more liver cysts on CT scans. Polycystic liver disease (PLD) was classified as none or mild (htTLV < 1,600 mL/m); moderate (1,600 ≤ htTLV <3,200 mL/m); and severe (htTLV ≥ 3,200 mL/m). The prevalence of moderate and severe PLD in our patient cohort was 11.7% (n = 54/461) and 4.8% (n = 22/461), respectively, with a female predominance in both the moderate (61.1%) and severe (95.5%) PLD groups. Pressure-related complications such as leg edema (20.4%), ascites (16.6%), and hernia (3.6%) were common, and patients with moderate to severe PLD exhibited a 6-fold increased risk (compared to no or mild PLD) for these complications in multivariate analysis. Similarly, abdominal symptoms including back pain (58.8%), flank pain (53.1%), abdominal fullness (46.5%), and dyspnea/chest-discomfort (44.3%) were very common, and patients with moderate to severe PLD exhibited a 5-fold increased risk for these symptoms. Moderate to severe PLD is a common and clinically important problem in ~16% of patients with ADPKD who may benefit from referral to specialized centers for further management. PMID:26641645

  19. Domains and correlates of clinical balance impairment associated with Huntington's disease.

    PubMed

    Jacobs, Jesse V; Boyd, James T; Hogarth, Penelope; Horak, Fay B

    2015-03-01

    This study sought to (a) determine the domains of clinical balance impairments associated with Huntington's disease (HD), and (b) evaluate associations between balance test scores and other disease-related impairments. Eighteen subjects with genetically definite HD and 17 age-matched control subjects were evaluated on the Mini-BESTest for their clinical balance impairments as well as the Unified HD Rating Scale (UHDRS) motor and total functional capacity scales, Activity-Specific Balance Confidence (ABC) Scale-short form, Montreal Cognitive Assessment (MoCA), and Symbol Digit Modalities Test (SDMT). Results showed that subjects with HD exhibited significantly lower total Mini-BESTest scores than subjects without HD (mean (95% CI)=76 (64-87)% with HD, 98 (96-99)% without HD; p=0.0011). Mini-BESTest item scores were significantly lower for subjects with HD on one-leg stance, postural responses, standing with eyes closed on foam, and dual-task timed up-and-go. Mini-BESTest scores significantly correlated with UHDRS motor (r(2)=0.68; p=0.00003) and total functional capacity (r(2)=0.75; p=0.000006) scores as well as with scores on the ABC short form (r(2)=0.45; p=0.0024), SDMT (r(2)=0.42; p=0.0036), and MoCA (r(2)=0.23; p=0.046) assessments. This study, therefore, demonstrates that balance impairments associated with HD span domains of anticipatory postural adjustments, postural responses, stance in challenging sensory conditions, and gait. Although preliminary, clinical balance impairment appears to be an efficient proxy evaluation of multiple HD-related factors due to associations with functional capacity, other motor impairments, balance confidence, and cognitive abilities.

  20. Environmental water chemistry and possible correlation with Kaschin-Beck Disease (KBD) in northwestern Sichuan, China.

    PubMed

    Shi, Zeming; Pan, Pujing; Feng, Yanwei; Kan, Zezhong; Li, Zhonghui; Wei, Fei

    2017-02-01

    During the past several decades, etiological and geochemical studies tend to link the Kaschin-Beck Disease (KBD) to the deficiency of some specific trace elements (e.g., selenium and iodine) in the environment; however the link has been proven inconclusive. In this work, we have investigated the relationship between KBD and the environment in a broader scope by examining comprehensively the chemistry of the surface waters in northwestern Sichuan, China, in relation to the KBD prevalence. The surface waters in the study area were found to be near neutral to slightly alkaline (pH6.70 to 8.85 with a mean of 7.91) and mostly soft (total hardness 35.2 to 314.3mg/L, mean 118.8mg/L) with low salinity (total dissolved solids (TDS) 44.5mg/L to 376.6mg/L, mean 146.6mg/L). The waters were dominated by cations Ca(2+) and Mg(2+) and anion HCO3(-); whereas the alkali metal ions K(+) and Na(+) and the anions Cl(-) and S04(2-) were relatively scarce. Spatially, the hardness/salinity of the surface waters exhibited a characteristic of being lower towards the center of the study area where most severe KBD endemic has been observed. Even though it is not conclusive at this stage, a correlation between KBD prevalence and the salinity/hardness of the surface waters of an area has been demonstrated. As a postulate, the long-term consumption of such low salinity waters may lead to a deficiency of some essential elements such as Ca, Mg, Se and I in humans, which may be a factor in inducing KBD. However, other factors such as high altitude and cold climate, poor nutrition and sanitary conditions may play an important role in the disease endemic.

  1. Pulmonary congenital cystic disease in adults. Spiral computed tomography findings with pathologic correlation and management.

    PubMed

    Scialpi, M; Cappabianca, S; Rotondo, A; Scalera, G B; Barberini, F; Cagini, L; Donato, S; Brunese, L; Piscioli, I; Lupattelli, L

    2010-06-01

    The aim of this study was to assess the computed tomography (CT) features of intrapulmonary congenital cystic diseases in adults and to correlate the imaging features with the pathological findings, with emphasis on the oncogenic potential of the lesions. We retrospectively reviewed the CT scans in three institutions from August 1996 to December 2008, of nine patients (six men, three women; mean age 48.6 years; range 26-75 years) who had histological diagnosis of pulmonary cystic disease after surgery. Six patients had a diagnosis of intrapulmonary bronchogenic cyst (IBC), and three had a type-I cystic adenomatoid malformation (CAM). In one case, intralobar sequestration (ILS) was associated with type-I CAM. Three patients were symptomatic and six were asymptomatic. On CT scans, IBCs showed homogeneous fluid attenuation (n=2), air-fluid level (n=2), air attenuation (n=1) or soft-tissue attenuation (n=1). The surrounding lung tissue showed areas of band-like linear attenuation in three IBCs, atelectasia in two and mucocele-like areas in one. On CT, type-I CAM appeared as a unilocular cystic lesion with air-fluid level (n=1) or air content (n=1). Both cases had thin walls surrounded by normal lung parenchyma. ILS appeared as a fluid-filled cyst with afferent and efferent vessels. Of the six IBCs, one occurred in the upper right lobe, two in the middle lobe and three in the lower right lobe. Of the three type-I CAMs, one was in the upper left lobe and one in the middle lobe. The type-I CAM associated with ILS was located in the left lower lobe. The similar CT patterns preclude differentiation between IBC and type-I CAM. Surgical resection of all intrapulmonary cystic lesions detected in adults is mandatory because type-I CAM is a precursor of mucinous bronchioloalveolar carcinoma.

  2. Fetuin-A negatively correlates with liver and vascular fibrosis in nonalcoholic fatty liver disease subjects.

    PubMed

    Sato, Motoya; Kamada, Yoshihiro; Takeda, Yuri; Kida, Sachiho; Ohara, Yuka; Fujii, Hironobu; Akita, Maaya; Mizutani, Kayo; Yoshida, Yuichi; Yamada, Makoto; Hougaku, Hidetaka; Takehara, Tetsuo; Miyoshi, Eiji

    2015-03-01

    Fetuin-A (α2HS-glycoprotein), a liver secretory glycoprotein, is known as a transforming growth factor (TGF)-β1 signalling inhibitor. Serum fetuin-A concentration is associated with nonalcoholic fatty liver disease (NAFLD) and cardiovascular disease. However, the usefulness of serum fetuin-A as a predictive fibrosis biomarker in NAFLD patients remains unclear. In this study, we investigated the relationship between circulating fetuin-A levels and fibrosis-related markers [platelet count, NAFLD fibrosis score and carotid intima media thickness (IMT)] in subjects with NAFLD. A total of 295 subjects (male, 164; female, 131) who received medical health check-ups were enrolled in this study. NAFLD was diagnosed using abdominal ultrasonography. Serum fetuin-A was measured by ELISA. IMT was assessed using a high-resolution ultrasound scanner. Using recombinant human fetuin-A, we investigated the effects of fetuin-A on hepatic stellate cells, which play a pivotal role in the process of hepatic fibrosis. Serum fetuin-A concentration was significantly correlated with platelet count (R = 0.19, P < 0.01), NAFLD fibrosis score (R = -0.25, P < 0.01) and mean IMT (R = -0.22, P < 0.01). Multivariate analyses revealed that the fetuin-A concentration is a significant and independent determinant of platelet count, NAFLD fibrosis score and mean IMT. Recombinant fetuin-A suppressed TGF-β1 signalling and fibrosis-related gene expression and increased the expression of TGF-β1 pseudoreceptor bone morphogenic protein and activin membrane-bound inhibitor (BAMBI). Serum fetuin-A level is associated with liver/vessel fibrosis-related markers in NAFLD patients. Circulating fetuin-A could be a useful serum biomarker for predicting liver and vascular fibrosis progression in NAFLD patients. © 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  3. Sphingolipid Metabolism Correlates with Cerebrospinal Fluid Beta Amyloid Levels in Alzheimer’s Disease

    PubMed Central

    Fonteh, Alfred N.; Ormseth, Cora; Chiang, Jiarong; Cipolla, Matthew; Arakaki, Xianghong; Harrington, Michael G.

    2015-01-01

    Sphingolipids are important in many brain functions but their role in Alzheimer’s disease (AD) is not completely defined. A major limit is availability of fresh brain tissue with defined AD pathology. The discovery that cerebrospinal fluid (CSF) contains abundant nanoparticles that include synaptic vesicles and large dense core vesicles offer an accessible sample to study these organelles, while the supernatant fluid allows study of brain interstitial metabolism. Our objective was to characterize sphingolipids in nanoparticles representative of membrane vesicle metabolism, and in supernatant fluid representative of interstitial metabolism from study participants with varying levels of cognitive dysfunction. We recently described the recruitment, diagnosis, and CSF collection from cognitively normal or impaired study participants. Using liquid chromatography tandem mass spectrometry, we report that cognitively normal participants had measureable levels of sphingomyelin, ceramide, and dihydroceramide species, but that their distribution differed between nanoparticles and supernatant fluid, and further differed in those with cognitive impairment. In CSF from AD compared with cognitively normal participants: a) total sphingomyelin levels were lower in nanoparticles and supernatant fluid; b) levels of ceramide species were lower in nanoparticles and higher in supernatant fluid; c) three sphingomyelin species were reduced in the nanoparticle fraction. Moreover, three sphingomyelin species in the nanoparticle fraction were lower in mild cognitive impairment compared with cognitively normal participants. The activity of acid, but not neutral sphingomyelinase was significantly reduced in the CSF from AD participants. The reduction in acid sphingomylinase in CSF from AD participants was independent of depression and psychotropic medications. Acid sphingomyelinase activity positively correlated with amyloid β42 concentration in CSF from cognitively normal but not impaired

  4. Clinical Correlates of Mass Effect in Autosomal Dominant Polycystic Kidney Disease.

    PubMed

    Kim, Hyunsuk; Park, Hayne Cho; Ryu, Hyunjin; Kim, Kiwon; Kim, Hyo Sang; Oh, Kook-Hwan; Yu, Su Jong; Chung, Jin Wook; Cho, Jeong Yeon; Kim, Seung Hyup; Cheong, Hae Il; Lee, Kyubeck; Park, Jong Hoon; Pei, York; Hwang, Young-Hwan; Ahn, Curie

    2015-01-01

    Mass effect from polycystic kidney and liver enlargement can result in significant clinical complications and symptoms in autosomal dominant polycystic kidney disease (ADPKD). In this single-center study, we examined the correlation of height-adjusted total liver volume (htTLV) and total kidney volume (htTKV) by CT imaging with hepatic complications (n = 461) and abdominal symptoms (n = 253) in patients with ADPKD. "Mass-effect" complications were assessed by review of medical records and abdominal symptoms, by a standardized research questionnaire. Overall, 91.8% of patients had 4 or more liver cysts on CT scans. Polycystic liver disease (PLD) was classified as none or mild (htTLV < 1,600 mL/m); moderate (1,600 ≤ htTLV <3,200 mL/m); and severe (htTLV ≥ 3,200 mL/m). The prevalence of moderate and severe PLD in our patient cohort was 11.7% (n = 54/461) and 4.8% (n = 22/461), respectively, with a female predominance in both the moderate (61.1%) and severe (95.5%) PLD groups. Pressure-related complications such as leg edema (20.4%), ascites (16.6%), and hernia (3.6%) were common, and patients with moderate to severe PLD exhibited a 6-fold increased risk (compared to no or mild PLD) for these complications in multivariate analysis. Similarly, abdominal symptoms including back pain (58.8%), flank pain (53.1%), abdominal fullness (46.5%), and dyspnea/chest-discomfort (44.3%) were very common, and patients with moderate to severe PLD exhibited a 5-fold increased risk for these symptoms. Moderate to severe PLD is a common and clinically important problem in ~16% of patients with ADPKD who may benefit from referral to specialized centers for further management.

  5. Value of Computerized Tomography Enterography in Predicting Crohn’s Disease Activity: Correlation with Crohn’s Disease Activity Index and C-Reactive Protein

    PubMed Central

    Park, Eun Kyung; Han, Na Yeon; Park, Beom Jin; Sung, Deuk Jae; Cho, Sung Beom; Jeen, Yoon Tae; Keum, Bora; Kim, Min Ju

    2016-01-01

    Background The accurate evaluation of Crohn’s disease activity is important for the treatment of the disease and for monitoring the response. Computerized tomography (CT) enterography is a useful imaging modality that reflects enteric inflammation, as well as extramural complications. Objectives The aim of this study was to evaluate the correlation between CT enterographic (CTE) findings of active Crohn’s disease and the Crohn’s disease activity index (CDAI) and C-reactive protein (CRP). Patients and Methods Fifty CT enterographies of 39 patients with Crohn’s disease in the small bowel were used in our study. The CDAI was assessed through clinical and laboratory variables. Multiple CT parameters, including mural hyperenhancement, mural thickness, mural stratification, comb sign, and mesenteric fat attenuation, were evaluated with a four-point scale. The presence or absence of enhanced lymph nodes, fibrofatty proliferation, sinus or fistula, abscess, and stricture were also assessed. Two gastrointestinal radiologists independently reviewed all CT images, and inter-observer agreement was examined. Correlations between CT findings, CRP, and CDAI were assessed using Spearman’s rank correlation and logistic regression analysis. To assess the predictive accuracy of the model, a receiver-operating characteristic curve analysis for the sum of CT enterographic scores was used. Results Mural hyperenhancement, mural thickness, comb sign, mesenteric fat density, and fibrofatty proliferation were significantly correlated with CDAI and CRP (P < 0.05). The binary logistic regression model demonstrated that mesenteric fat density, mural stratification, and the presence of enhanced lymph nodes (P < 0.05) had an influence on CDAI severity. The area under the receiver operating characteristic curve (AUROC) of the CTE index for predicting disease activity was 0.85. Using a cut-off value of 8, the sensitivity and negative predictive values were 95% and 94%, respectively

  6. Evolution of anti-Trypanosoma cruzi antibody production in patients with chronic Chagas disease: Correlation between antibody titers and development of cardiac disease severity

    PubMed Central

    Georg, Ingebourg; Hasslocher-Moreno, Alejandro Marcel; Xavier, Sergio Salles; de Holanda, Marcelo Teixeira; Bonecini-Almeida, Maria da Gloria

    2017-01-01

    Chagas disease is one of the most important endemic infections in Latin America affecting around 6–7 million people. About 30–50% of patients develop the cardiac form of the disease, which can lead to severe cardiac dysfunction and death. In this scenario, the identification of immunological markers of disease progression would be a valuable tool for early treatment and reduction of death rates. In this observational study, the production of anti-Trypanosoma cruzi antibodies through a retrospective longitudinal follow-up in chronic Chagas disease patients´ cohort and its correlation with disease progression and heart commitment was evaluated. Strong inverse correlation (ρ = -0.6375, p = 0.0005) between anti-T. cruzi IgG1 titers and left ventricular ejection fraction (LVEF) in chronic Chagas cardiomyopathy (CCC) patients were observed after disease progression. Elevated levels of anti-T. cruzi IgG3 titers were detected in all T. cruzi-infected patients, indicating a lack of correlation of this IgG isotype with disease progression. Furthermore, low levels of anti-T. cruzi IgG2, IgG4, and IgA were detected in all patients through the follow-up. Although without statistical significance anti-T. cruzi IgE tends to be more reactive in patients with the indeterminate form (IND) of the disease (p = 0.0637). As this study was conducted in patients with many years of chronic disease no anti-T. cruzi IgM was detected. Taken together, these results indicate that the levels of anti-T. cruzi IgG1 could be considered to seek for promising biomarkers to predict the severity of chronic Chagas disease cardiomyopathy. PMID:28723905

  7. Evolution of anti-Trypanosoma cruzi antibody production in patients with chronic Chagas disease: Correlation between antibody titers and development of cardiac disease severity.

    PubMed

    Georg, Ingebourg; Hasslocher-Moreno, Alejandro Marcel; Xavier, Sergio Salles; Holanda, Marcelo Teixeira de; Roma, Eric Henr