Inclusion body myositis (IBM) is an inflammatory muscle disease characterized by slowly progressive weakness and wasting of both distal and proximal muscles, most apparent in the muscles of the arms and legs. There are two types: sporadic inclusion body myositis (sIBM), which is more common, and hereditary inclusion body myopathy (hIBM). In sporadic inclusion body myositis [MY-oh-sigh-tis], two processes, one autoimmune and the other degenerative, appear to occur in the muscle cells in parallel. The inflammation aspect is characterized by the cloning of T cells that appear to be driven by specific antigens to invade muscle fibers. The degeneration aspect is characterized by the appearance of holes in the muscle cell vacuoles, deposits of abnormal proteins within the cells and in filamentous inclusions (hence the name inclusion body myositis). Weakness comes on slowly (over months or years) and progresses steadily and usually leads to severe weakness and wasting of arm and leg muscles. It is more ...

Recently, surgical stress due to breast cancer has been reduced, more so for elderly patients. However, an expanded resection is still required in some situations. We present a case of a 90-year-old woman with a 15 × 15 cm2 erythema and localized skin ulceration with hemorrhage in her right breast. A punch biopsy indicated mammary Paget's disease. Computed tomography showed that the tumor was only located on the surface of the breast with no metastasis, including of the axillar lymph nodes. We decided to perform surgery with sufficient informed consent. We performed muscle-sparing mastectomy with sampling of an axillar lymph node, adding two stress-relaxation sutures to avoid diastasis. The patient's postoperative course was good. A histological examination revealed mammary Paget's disease without invasion and no evidence of a residual tumor of the entire stumps. Her quality of life was improved after surgery. Mammary Paget's disease has a relatively good prognosis. However, advanced mammary Paget's

The Mohs micrographic surgery CPT codes include skin biopsy and excision services (CPT codes 11000-11001, 11600-11646, and 17260-17286). However, if a suspected skin cancer is biopsied for pathologic diagnosis prior to proceeding to Mohs micrographic surgery, the biopsy (CPT codes 11000, 11001) and frozen section pathology (CPT code 88331) may be reported separately utilizing modifier 59 or 58 to distinguish the diagnostic biopsy from the definitive Mohs surgery. Although the CPT Manual indicates that modifier 59 should be utilized, it is also acceptable to utilize modifier 58 to indicate that the diagnostic skin biopsy and Mohs micrographic surgery were staged or planned procedures. Repairs, grafts, and flaps are separately reportable with the Mohs micrographic surgery CPT codes ...

Practical and objective instruments to assess pediatric Crohn's disease (CD) activity are required for observational research and quality improvement. The objectives were: 1) to determine the feasibility of completing the Pediatric Crohn's Disease Activity Index (PCDAI) and the Abbreviated PCDAI (APCDAI); and 2) to create a Short PCDAI by retaining and reweighting the most practical and informative components.

TY - JOUR. T1 - TBK1 mediates critical effects of measles virus nucleocapsid protein (MVNP) on pagetic osteoclast formation. AU - Sun, Quanhong. AU - Sammut, Bénédicte. AU - Wang, Feng Ming. AU - Kurihara, Noriyoshi. AU - Windle, Jolene J.. AU - Roodman, G. David. AU - Galson, Deborah L.. PY - 2014/1. Y1 - 2014/1. N2 - Paget's disease of bone (PDB) is characterized by abnormal osteoclasts with unique characteristics that include increased sensitivity of osteoclast progenitors to 1,25(OH)2D3, receptor activator of NF-κB ligand (RANKL), and TNF-α; increased osteoclast numbers; and increased expression of IL-6 and several transcription factors. We recently reported that measles virus nucleocapsid protein (MVNP) plays a key role in the development of these abnormal osteoclasts. MVNP can induce the pagetic osteoclast phenotype in vitro and in vivo in TRAP-MVNP transgenic mice. However, the molecular mechanisms by which MVNP generates pagetic osteoclasts have not been determined. TANK-binding ...

Looking for online definition of extramammary Paget disease in the Medical Dictionary? extramammary Paget disease explanation free. What is extramammary Paget disease? Meaning of extramammary Paget disease medical term. What does extramammary Paget disease mean?

Rider LG, Werth VP, Huber AM, Alexanderson H, Rao AP, Ruperto N, Herbelin L, Barohn R, Isenberg D, Miller FW. Measures of adult and juvenile dermatomyositis, polymyositis, and inclusion body myositis: Physician and Patient/Parent Global Activity, Manual Muscle Testing (MMT), Health Assessment Questionnaire (HAQ)/Childhood Health Assessment Questionnaire (C-HAQ), Childhood Myositis Assessment Scale (CMAS), Myositis Disease Activity Assessment Tool (MDAAT), Disease Activity Score (DAS), Short Form 36 (SF-36), Child Health Questionnaire (CHQ), physician global damage, Myositis Damage Index (MDI), Quantitative Muscle Testing (QMT), Myositis Functional Index-2 (FI-2), Myositis Activities Profile (MAP), Inclusion Body Myositis Functional Rating Scale (IBMFRS), Cutaneous Dermatomyositis Disease Area and Severity Index (CDASI), Cutaneous Assessment Tool (CAT), Dermatomyositis Skin Severity Index (DSSI), Skindex, and Dermatology Life Quality Index (DLQI). Arthritis Care Res (Hoboken). 2011 Nov;63 Suppl ...

ECCO - European Crohn´s and Colitis Organisation. The European Crohn\'s and Colitis Organisation is a highly active non-profit association focusing on Inflammatory Bowel Diseases (IBD).

Background Paget's disease is an intraepidermal adenocarcinoma that is difficult to diagnose clinically as it mimics inflammatory or infectious diseases. As a consequence, it may be clinically misdiagnosed resulting in a delay in appropriate management. Reflectance confocal microscopy allows the visualization of the upper layers of the skin and mucosa at cellular resolution. Paget's disease is characterized histologically by the presence of neoplastic cells scattered throughout all layers of the epidermis in a pattern similar to that also observed in melanoma (and termed Pagetoid spread). Objective In vivo confocal microscopy is an excellent diagnostic tool for detecting Pagetoid spread and for diagnosing melanoma. We therefore hypothesized that it may also assist in the diagnosis of Paget's disease. Methods In this study, we describe the confocal features of nine cases of extramammary Paget's disease and one case of mammary one. Results Large atypical Pagetoid cells were present singly and in ...

TY - JOUR. T1 - Paget's disease of the mandible. T2 - Lincoln sign on bone scintigraphy. AU - Nahum, E.. AU - Chandramouly, B.. AU - Thornhill, B.. PY - 1996/1/1. Y1 - 1996/1/1. N2 - The incidence of Paget's disease of the mandible is reportedly rare. A murine bone scintigraphy in the evaluation of metastases revealed diffuse intense increased activity in the mandible, consistent with Paget's disease, which was confirmed on the radiographs.. AB - The incidence of Paget's disease of the mandible is reportedly rare. A murine bone scintigraphy in the evaluation of metastases revealed diffuse intense increased activity in the mandible, consistent with Paget's disease, which was confirmed on the radiographs.. UR - http://www.scopus.com/inward/record.url?scp=0029976171&partnerID=8YFLogxK. UR - http://www.scopus.com/inward/citedby.url?scp=0029976171&partnerID=8YFLogxK. U2 - 10.1097/00003072-199603000-00013. DO - 10.1097/00003072-199603000-00013. M3 - Article. C2 - 8846573. AN - SCOPUS:0029976171. VL - ...

Crohn s Disease is a challenging health condition for both patients and doctors alike. No medical cure exists, despite significant medical exploration and testing., , , , However, recent scientific discoveries in the arena of digestive enzymes and probiotics is providing significant hope to those challenged by Crohn s Disease. , , , , For years it was well known that food choices and dietary changes can help minimize the symptoms of Crohn s Disease. That is still the best advice. However, ma...

The major duodenal papilla is an opening of the Common bile duct and Pancreatic duct into the duodenum. The major duodenal papilla is, in most people, the primary mechanism for the secretion of bile and other enzymes that facilitate digestion. The major duodenal papilla is situated in the second part of the duodenum, 7-10 cm from the pylorus, at the level of the second or third lumbar vertebrae. It is surrounded by the sphincter of Oddi, and receives a mixture of pancreatic enzymes and bile from the Ampulla of Vater, which drains both the pancreatic duct and biliary system. The junction between the foregut and midgut occurs directly below the major duodenal papilla. The major duodenal papilla is seen from the duodenum as lying within a mucosal fold. The minor duodenal papilla is situated 2cm proximal. The major duodenal papilla is occasionally found in the third part of the duodenum, the level of the vertebrae may be L2-3, and in about 10% of people, it may not receive bile. Additionally, in a ...

1. Hengstman GJ, Brouwer R, Egberts WT, Seelig HP, Jongen PJ, van Venrooij WJ, van Engelen BG. Clinical and serological characteristics of 125 Dutch myositis patients. Myositis specific autoantibodies aid in the differential diagnosis of the idiopathic inflammatory myopathies. J Neurol. 2002 Jan;249(1):69-75. PMID:11954871.. Abstract. The idiopathic inflammatory myopathies (IIM) are a heterogeneous group of systemic diseases that include the familiar disease entities of dermatomyositis (DM), polymyositis (PM), and inclusion body myositis (IBM). A subset of patients has unique autoantibodies which are specific for IIM (myositis specific autoantibodies; MSAs). We studied the clinical and serological characteristics of IIM in 125 Dutch patients. Sera were analysed by immunoblotting, enzyme-linked immunosorbent assay, and immunoprecipitation. The most frequently encountered MSA was the anti-Jo-1 autoantibody (20%), followed by anti-tRNAHis (6%), anti-Mi-2 (6%), and anti-SRP (4%). The presence of ...

A favourable course of Crohn disease has been observed after allogeneic bone marrow transplantation, and there is now mounting evidence that autologous stem cell may be an effective treatment for severe autoimmune diseases. Here, we present the first long-term endoscopic follow-up of a patient with Crohn disease undergoing autologous stem cell transplantation for haematological disease. A 54-year-old woman developed Crohn disease and was submitted to ileocaecal resection. Four months after surgery, the patient contracted acute myeloid leukaemia. She was initially treated with chemotherapy, and subsequently underwent autologous stem cell transplantation. Following transplantation, the patient has remained in clinical remission regarding both diseases, without anti-inflammatory medication. She has undergone ileo-colonoscopy with normal findings at 1, 2, 3 and 5 years after transplantation. This case suggests that autologous stem cell transplantation can change not only the clinical course, but ...

TY - JOUR. T1 - Long-term trends in the incidence of Paget's disease of bone. AU - Tiegs, R. D.. AU - Lohse, C. M.. AU - Wollan, P. C.. AU - Melton, L. J.. PY - 2000/9/1. Y1 - 2000/9/1. N2 - Existing data on the epidemiology of Paget's disease of bone are limited by the lack of directly determined secular trends in clinically diagnosed Paget's disease. In the current study, we examine trends in Paget's disease incidence in Olmsted County, MN, using data from the Rochester Epidemiology Project medical records linkage system. During the period 1950 through 1994, 236 Olmsted County, MN residents were diagnosed for the first time with Paget's disease of bone at a mean age of 69.6 years. Overall, there were 129 (54.7%) men and 107 women, and the age-adjusted incidence of Paget's disease was 12.7 per 100,000 person-years (95% CI 10.4-14.9) among the men compared with 7.0 per 100,000 person-years (95% CI 5.6-8.3) among Olmsted County women (male/female ratio of 1.8:1). The higher incidence in males ...

Dermatomyositis (DM) is inflammatory myopathy or myositis characterised by muscle weakness and skin manifestations. In the differential diagnosis of DM, the evaluation of the muscle biopsy is of importance among other parameters. Perifascicular atrophy in the muscle biopsy is considered a hallmark of DM. However, perifascicular atrophy is not observed in all patients with DM and, conversely, perifascicular atrophy can be observed in other myositis such as antisynthetase syndrome (ASS), complicating DM diagnosis. Retinoic acid inducible-gene I (RIG-I), a receptor of innate immunity that promotes type I interferon, was observed in perifascicular areas in DM. This study compared the value of RIG-I expression with perifascicular atrophy as a biomarker of DM in 115 coded muscle biopsies: 44 patients with DM, 18 with myositis with overlap, 8 with ASS, 27 with non-DM inflammatory myopathy (16 with polymyositis, 6 with inclusion body myositis, 5 with immune-mediated necrotizing myopathy), 8 with ...

The proliferative activity and polyamine levels of the rectal epithelium in unoperated ulcerative colitis patients and in ulcerative colitis patients after total colectomy and ileorectal anastomosis were determined and compared with control subjects. Cell proliferation was evaluated in rectal biopsies by in vitro 3H thymidine incorporation by measuring the labeling index and the position of labeled cells along the crypt; polyamines were determined with a chromatographic method. In ulcerative colitis patients the labeling index was significantly increased, and labeled cells were shifted toward the upper part of the crypt when compared with controls. Ileorectal anastomosis patients showed a normalization of the labeling index and a distribution of labeled cells similar to controls. Polyamine levels were also increased in ulcerative colitis patients; in ileorectal anastomosis patients, the level of polyamines was decreased in respect to unoperated patients and return to normal values except for ...

TY - JOUR. T1 - Hemosuccus pancreaticus. T2 - Clearly identified by timely duodenoscopy, multiplanar volume reformation of CT image and celiac angiography. AU - Enomoto, Shotaro. AU - Yahagi, Naohisa. AU - Fujishiro, Mitsuhiro. AU - Oka, Masashi. AU - Kakushima, Naomi. AU - Iguchi, Mikitaka. AU - Isayama, Hiroyuki. AU - Yanaoka, Kimihiko. AU - Arii, Kenji. AU - Tamai, Hideyuki. AU - Shimizu, Yasuhito. AU - Ichinose, Masao. AU - Omata, Masao. PY - 2006/3. Y1 - 2006/3. N2 - Although hemosuccus pancreaticus (HP) rarely causes gastrointestinal bleeding, it should be considered in cases of unexplained gastrointestinal bleeding. We report a case of hemosuccus pancreaticus in a 68-year-old man. The patient has a long-standing history of anemia with a causal relation to drinking alcohol. He consulted 3 medical institutions, but the source of bleeding could not be identified. The patient was admitted to our hospital. After an episode of melena, upper endoscopy was performed and fresh blood was observed ...

Polymyositis is a rare systemic rheumatic disease characterized by a degenerative inflammatory process of the muscles.. "The inflammatory myopathies, commonly described as idiopathic, are the largest group of acquired and potentially treatable myopathies. On the basis of unique clinical, histopathological, immunological, and demographic features, they can be differentiated into three major and distinct subsets: dermatomyositis, polymyositis, and inclusion-body myositis. Use of new diagnostic criteria is essential to discriminate between them and to exclude other disorders."1. "Polymyositis (PM) is an idiopathic inflammatory myopathy. It is a systemic disease that affects skeletal muscles and results in proximal muscle weakness. PM is associated with malignancy in 10-15% of patients. The 3 most commonly associated cancers are nasopharyngeal, lung, and breast cancer.4 Hepatocellular carcinoma (HCC)-associated PM is quite rare."2. "Dermatomyositis (DM) and polymyositis (PM) are idiopathic ...

Periampullary cancers encompass a mixture of cancers but in general are separated into four subtypes: cancer in the head of the pancreas, distal bile duct cancer, true ampullary cancer, and duodenal cancer. These cancers arise in the vicinity of the ampulla of Vater and are differentiated by their histologic origins (pancreatic, distal bile duct, ampulla of Vater, or duodenum). While pancreatic adenocarcinoma makes up the majority of resected periampullary cancers at 62%, ampullary cancer accounts for 19%, distal bile duct cancer 12%, and duodenal cancer 7% of resected periampullary cancers.1 Although preoperative assessment with imaging and biopsy can distinguish one subtype from the other, often times the tumor origin may be undetermined preoperatively. Moreover, duodenal cancer in the periampullary region as well as intestinal-type ampullary cancer behave in a similar fashion, whereas distal bile duct cancer and pancreaticobiliary-type ampullary cancer behave similar to one another. While 56% ...

Background & Aims: Mycobacterium avium subspecies paratuberculosis has been proposed as a cause of Crohn's disease. We report a prospective, parallel, placebo-controlled, double-blind, randomized trial of 2 years of clarithromycin, rifabutin, and clofazimine in active Crohn's disease, with a further year of follow-up. Methods: Two hundred thirteen patients were randomized to clarithromycin 750 mg/day, rifabutin 450 mg/day, clofazimine 50 mg/day or placebo, in addition to a 16-week tapering course of prednisolone. Those in remission (Crohn's Disease Activity Index ≤150) at week 16 continued their study medications in the maintenance phase of the trial. Primary end points were the proportion of patients experiencing at least 1 relapse at 12, 24, and 36 months. Results: At week 16, there were significantly more subjects in remission in the antibiotic arm (66%) than the placebo arm (50%; P = .02). Of 122 subjects entering the maintenance phase, 39% taking antibiotics experienced at least 1 relapse ...

Parkinson s disease occurs both sporadically and as a result of inheritance of single gene mutations. One of the most common neurodegenerative disorders, it is associated with the progressive and selective loss of a specific population of neurons in the brain, the dopaminergic neurons of the substantia nigra pars compacta . Exposure to several common environmental toxins, thought to injure neurons through oxidative damage, has been shown to be associated with sporadic forms of Parkinson s disease. During the past decade, researchers have also made remarkable progress in identifying genes responsible for inherited forms of Parkinson s disease, with the expectation that understanding the function of these genes will elucidate mechanisms behind sporadic Parkinson s disease. Past work had shown that one form of familial Parkinson s disease results from a loss of function of a gene called DJ-1 ...

TY - JOUR. T1 - Xanthohumol impairs autophagosome maturation through direct inhibition of valosin-containing protein. AU - Sasazawa, Yukiko. AU - Kanagaki, Shuhei. AU - Tashiro, Etsu. AU - Nogawa, Toshihiko. AU - Muroi, Makoto. AU - Kondoh, Yasumitsu. AU - Osada, Hiroyuki. AU - Imoto, Masaya. PY - 2012/5/18. Y1 - 2012/5/18. N2 - Autophagy is a bulk, nonspecific protein degradation pathway that is involved in the pathogenesis of cancer and neurodegenerative disease. Here, we observed that xanthohumol (XN), a prenylated chalcone present in hops (Humulus lupulus L.) and beer, modulates autophagy. By using XN-immobilized beads, valosin-containing protein (VCP) was identified as a XN-binding protein. VCP has been reported to be an essential protein for autophagosome maturation. Using an in vitro pull down assay, we showed that XN bound directly to the N domain, which is known to mediate cofactor and substrate binding to VCP. These data indicated that XN inhibited the function of VCP, thereby allowing ...

Hello all, I'm hoping some of you can answer my questions about B12 deficiency and possible gluten intolerance. I'm a 38 y-o male and was diagnosed with B12 deficient anaemia four months ago. I don't know the cause of it. I am wondering whether celiac/gluten intolerance may be the cause. I live in Asia in a country with very limited medical expertise in this field. I have not been able to have any specific blood/antibody tests for gluten intolerance, but I have had an Esophago-Gastro-Duodenoscopy (EGD) and a colonoscopy, and biopsies. The results were all fine, according to my doctor (who wasn't able to give me any explanation for my B12 deficiency) but I still have unresolved questions. My biopsy results showed: Mild chronic ileitis with slightly flattened mucosa in the lamina propia, terminal ileum (with no increased eosinophils or parasites seen). Moderate or mild mononuclear cells in the antrum, body and incisura. No H pylori organisms identified. Moderate intestinal metaplasia in the ...

APHOTOFUNGI - Photographic Stock Image Library Page for Taphrina deformans - Peach Leaf Curl (Ascomycota Images). A-P-H-O-T-O - Furthering environmental awareness and education through the medium of photography.

Inflammatory bowel disease is a chronic disorder of the lower gastrointestinal tract that may occur in three forms: Crohn's disease (CD), ulcerative colitis (UC), and indeterminate colitis (IC). Its prevalence in the adult population approaches 0.3%.1 The differential diagnosis of the different forms of IBD is often difficult, time-consuming, and invasive.2 The gold standard for diagnosis is endoscopy with biopsies for histologic examination.3 In recent years, however, a number of serological markers have been introduced. The most commonly employed serological markers of IBD are anti-Saccharomyces cerevisiae antibody (ASCA) and atypical perinuclear antineutrophil cytoplasmic antibody (pANCA). ASCA positivity is found predominantly in patients with CD, while pANCA positivity is found predominantly in patients with UC.2 A combination of ASCA and pANCA has a specificity of as high as 99% for differentiation of CD from UC.3 Nevertheless, there are a substantial number of patients with IBD who are ...

Valosin-containing protein (VCP) is involved in multiple cellular activities. Mutations in VCP lead to heterogeneous clinical presentations including inclusion body myopathy with Paget's disease of the bone, frontotemporal dementia and amyotrophic lateral sclerosis, even in patients carrying the same mutation. We screened a cohort of 48 patients with familial frontotemporal dementia (FTD) negative for MAPT, GRN, and C9orf72 mutations for other known FTD genes by using whole exome sequencing. In addition, we carried out targeted sequencing of a cohort of 37 patients with frontotemporal lobar degeneration with Transactive response DNA-binding protein 43 (TDP-43) subtype from the Netherlands Brain bank. Two novel (p.Thr262Ser and p.Arg159Ser) and one reported (p.Met158Val) VCP mutations in three patients with a clinical diagnosis of FTD were identified, and were absence in population-match controls. All three patients presented with behavioral changes, with additional semantic deficits in one. No ...

Portal-mesenteric vein thrombosis, pylephlebitis and liver abscesses are rare complications of inflammatory bowel disease (IBD). The purpose of this case report is to relate an unusual presentation of CD in order to show how conservative treatment could be an appropriate option as a bridge to the surgery, in patients with septic thrombophlebitis and multiple liver abscesses with CD. We report a case of a 25-year-old man with Crohn's disease (CD) who developed a superior mesenteric venous thrombosis, multiple liver abscesses and pylephlebitis, diagnosed through abdominal ultrasound and an abdominal computed tomography (CT) scan. The patient was successfully treated with conservative treatment consisting of intravenous antibiotics, subcutaneous anticoagulation and percutaneous catheter drainage of liver abscesses. We reported an unnusual case of pylephlebitis in CD. Until now this association has not been reported in adult patients at onset. We hypothesise that the infection developed as a result of

A 'cluster' of patients refers to the geographic proximity of unrelated patients with the same disease and suggests a common environmental cause for that disease. Clusters of patients with Crohn's disease have been linked to the presence of an infectious microorganism in unpasteurized milk and cheese, untreated water supplied by wells or springs, animal manure used as fertilizer for family vegetable gardens, and bodies of water contaminated by agricultural runoff. Mycobacterium avium subspecies paratuberculosis (MAP) is the suspected cause of Crohn's disease. MAP causes a disease in dairy cows and other animals that is similar to Crohn's disease, called Johne's ('Yo-knees') disease or paratuberculosis. Dairy cows with Johne's disease secrete MAP into their milk and excrete MAP into their feces. MAP is present in untreated water such as well water, in bodies of water contaminated by agricultural runoff, and in unpasteurized milk and cheese. The 'treatment' of 'tap' water to make it 'drinkable' or

Data from exome sequencing show that a proportion of individuals in whom a genetic disorder is suspected turn out to have not one, but two to four distinct ones. This may require an evolution in our diagnostic attitude towards individuals with complex disorders. We report a patient with splenomegaly, pneumopathy, bone changes and fronto-temporal dementia (FTD). 'Sea-blue histiocytes' in his bone marrow pointed to a lysosomal storage disease. Homozygosity for a pathogenic mutation in the SMPD1 gene confirmed Niemann-Pick disease type B (NPD-B). Mild cognitive impairment and abnormal brain FDG PET were consistent with FTD. We initially tried to fit the skeletal and neurologic phenotype into the NPD-B diagnosis. However, additional studies revealed a pathogenic mutation in the SQSTM1 gene. Thus, our patient had two distinct diseases; NPD-B, and Paget's disease of bone with FTD. The subsequent finding of a mutation in SQSTM1 gene ended our struggle to explain the combination of findings by

Polyostotic is typically used to a condition that involves multiple bones. Examples of conditions that can be polyostotic include fibrous dysplasia and melorheostosis. See also monostotic polyostotic monomelic

We present a comprehensive report of two siblings with hereditary inclusion body myopathy (HIBM). The clinical features and histological characteristics of the muscle biopsies showed the typical pattern of predominantly distal vacuolar myopathy with quadriceps sparing. This was confirmed by muscle MRI. PNA lectin staining showed an increased signal at the sarcolemma in patient muscle sections compared to control muscle, indicating reduced sialylation of glycoconjugates. Mutation analysis revealed compound heterozygous mutations in the GNE gene, encoding the key enzyme in sialic acid synthesis UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase: a missense mutation (c.2086G > A; p.V696M) previously described in HIBM patients of Indian origin, and a novel frame shift mutation (c.1295delA; p.K432RfsX17) leading to a premature stopcodon. These findings confirmed the diagnosis of HIBM on the histological, molecular and biochemical level ...

Status: Recruiting. Condition Summary: Congenital Muscular Dystrophy (Including Unspecified/Undiagnosed); Dystroglycanopathy; Congenital Fiber Type Disproportion; Rigid Spine Muscular Dystrophy; Congenital Myopathy (Including Unspecified/Undiagnosed); Collagen VI CMD (Ullrich CMD, Intermediate, Bethlem Myopathy); Laminin Alpha 2 Related Congenital Muscular Dystrophy; LAMA2-CMD/Merosin Deficient/MDC1A; Walker-Warburg Syndrome; Muscle-Eye-Brain Disease; Fukuyama/Fukutin Related Muscular Dystrophy; Integrin Alpha 7 Deficiency; Integrin Alpha 9 Deficiency; LMNA-CMD/Lamin A/C/Laminopathy; SEPN1-Related Myopathy; Bethlem Myopathy; Actin Aggregation Myopathy; Cap Disease; Central Core Disease; Centronuclear Myopathy; Core Rod Myopathy; Hyaline Body Myopathy; Multiminicore Myopathy; Myotubular Myopathy; Nemaline Myopathy; Tubular Aggregate Myopathy; Zebra Body Myopathy; Reducing Body Myopathy; Spheroid Body Myopathy; LGMD1B (LMNA); LGMD1E (DES); LGMD2G (TCAP); LGMD2H (TRIM32); LGMD2I (FKRP); LGMD2J ...

Mycobacterium avium subspecies paratuberculosis (MAP) causes a chronic wasting diarrheal disease in ruminants called Johne's disease, that is evocative of human inflammatory bowel disease (IBD). Agents used to treat IBD, called 'anti-inflammatories', immuno-modulators' and 'immuno-suppressants' inhibit MAP growth in culture. We concluded that, unknowingly, the medical profession has been treating MAP since sulfasalazine's introduction in 1942. Monensin, called a 'Growth Enhancer' in cattle, ameliorates Johne's disease without a documented mechanism of action. We hypothesized that Monensin would inhibit MAP in culture. Using the radiometric 14CO2 Bactec® system, that expresses mycobacterial growth in arbitrary growth index (GI) units, we studied the effect of Monensin on the growth kinetic of MAP isolated from humans with IBD ('Dominic', 'Ben' & UCF-4) and cattle with Johne's disease (303 & ATCC 19698.) Results are expressed as percent inhibition of cumulative GI (%-ΔcGI). The positive control

The fellowship in Metabolic Bone Disease is a 1 year clinical research program. Successful completion of the program will enable the fellow to evaluate , diagnose and provide evidence based management of complex metabolic bone diseases. These include osteoporosis in pre and postmenopausal women as well as in men, fibrous dysplasia, sclerotic bone diseases, osteomalacia, osteogenesis imperfecta, hypophosphatasia, X-linked hypophosphatemia , renal osteodystrophy and paget's disease. The fellow will also gain competence in evaluating complex calcium and parathyroid disorders as well as an understanding of how and when to complete genetic testing for calcium disorders as well as metabolic bone diseases. The fellow will attend the American Society of Bone and Mineral Research annual scientific meeting and submit research for presentation at this meeting . The fellowship curriculum is outlined in the American Society of Bone and Mineral Research Primer. It is expected that the fellow will be gain this ...

Perinuclear antineutrophil cytoplasmic antibodies (P-ANCA) have been demonstrated in patients with ulcerative colitis and in a higher frequency than expected in their first degree relatives. A hypothesis was proposed that P-ANCA is genetically determined and may represent a subclinical marker of genetic susceptibility to ulcerative colitis. This study analysed P-ANCA in monozygotic twins with inflammatory bowel disease to evaluate this hypothesis further. P-ANCA was analysed with indirect immunofluorescence technique in 12 monozygotic twin pairs with ulcerative colitis and 14 twin pairs with Crohn's disease. Furthermore, the study included 21 non-twin patients with ulcerative colitis, 18 non-twin patients with Crohn's disease, and 52 healthy controls matched for sex and age. In ulcerative colitis P-ANCA occurred in nine of 14 (64.3%) monozygotic twins and in 13 of 21 (61.9%) non-twin cases, which was significantly different compared with healthy controls who were positive in three of 52 (5.8%) ...

Myositis ossificans [MO] is a benign heterotropic bone forming (often- self resolving) pathology of bone and soft tissue. Here we are reporting the first time in literature for osteomyelitis of myositis ossificans in arm of a male due to trauma as a perusal of rare entity. Case Report: It is a case report of a 25 years old male presented to us in out-patient department with chief complaint of discharging wounds over mid part of left arm since six months. Clinically provisional diagnosis of chronic osteomylitis of left humerus made and his x-ray sought. X- Ray showed geographic appearance of myositis ossificans around the upper two third of left arm. Sinuses curetted and infected bone (part of myositis ossificans) removed and sent for biopsy. Now the patient is discharge and sinus free, and has resumed his work. Conclusion: Osteomyleitis of myositis ossificans should be recognized as a possible differential diagnosis chronic discharging sinus. This type of presentation of myositis ossificans is rarest.

Extremely low birth weight (ELBW) is a risk factor for various gastrointestinal complications. In the recent decades, advances in medicine have increased the survival of ELBW infants with necrotizing enterocolitis (NEC). To our knowledge, there have been no reports of neonates or infants developing simultaneous gastric and duodenal perforations and later developing NEC. We report a case of an extremely low birth weight infant (ELBWI) who developed both gastric and duodenal perforations at the same time and developed NEC after operation for gastric and duodenal perforations. The patient was a female infant with ELBW who developed both gastric and duodenal perforations at the same time and developed NEC after operation for gastric and duodenal perforations. After birth, endotracheal intubation was performed. However, barotrauma occurred during positive pressure ventilation, resulting in a large area of emphysema in the left lower lung field, leading to collapse of the left lung. This giant bulla may have

Duodenal cancer is a type of cancer in the small intestine. It is something like gastric cancer and colorectal cancer. Familial adenomatous polyposis (FAP), Gardner Syndrome, Lynch Syndrome, Muir-Torre syndrome, Celiac sprue, Puetz-Jeghers, Crohn's Disease and Juvenile Polyposis Syndrome are risk factors for having this cancer.[1] The duodenum is the first part of the small intestine. It is located between the stomach and the jejunum. After foods combine with stomach acid, they go down into the duodenum where they mix with bile from the gall bladder and digestive juices from the pancreas. ...

TY - JOUR. T1 - Cytokine and growth factor expression in Paget's disease: analysis by reverse-transcription/polymerase chain reaction. AU - Ralston, S H. AU - Hoey, S A. AU - Gallacher, S J. AU - Adamson, B B. AU - Boyle, I T. AU - Gordon, Sharon Andrea. PY - 1994. Y1 - 1994. N2 - We investigated expression of several cytokines and growth factors in explants of Pagetic and non-Pagetic bone samples using the technique of reverse-transcription/polymerase chain reaction (RT/PCR). Transcripts for IL-1 alpha and IL-1 beta, TNF-alpha, TNF-beta, IL-6, basic fibroblast growth factor (bFGF), transforming growth factor beta (TGF-beta) and insulin-like growth factor-I (IGF-I) were found to a variable degree in both Pagetic and non-Pagetic bone samples, but there was no significant difference in the patterns of expression for these factors in Pagetic bone (n = 18) as compared with non-Pagetic bone (n = 51). There was furthermore, no significant difference in the patterns of expression for the various ...

en] Chloro-4-phenyl thiomethylene bisphosphonate (tiludronate) is a new drug which can be used as an inhibitor of bone resorption. As it remains in bone for a long time, and as mineralisation defects have only been seen at doses much higher than those required to decrease osteoclastic activity, it could be given at high doses over a short period of time. Eighteen patients with Paget's disease of bone were randomly allocated to three therapeutic groups receiving respectively 600, 800, and 1200 mg/day tiludronate for five days. Serum alkaline phosphatase activity and the urinary hydroxyproline/creatinine ratio were quickly and drastically reduced in all three groups. A significant reduction of serum alkaline phosphatases and the hydroxyproline/creatinine ratio was still present six months after the five day therapeutic course, reflecting a sustained activity of tiludronate even after stopping treatment. Dose dependent short and long term reductions of bone turnover rate were observed. Biochemical ...

1. Still GF. On a form of chronic joint disease in children. Med Chir Trans 1897; 80: 47. 2. Bywaters EG. Stillęs disease in the adult. Ann Rheum Dis 1971; 30: 121. 3. Yamaguchi M, Ohta A, Tsunematsu T. Preliminary criteria for classification of adult Stillęs disease. J Rheumatol 1992; 19: 424-430. 4. Deane S, Selmi C, Teuber SS, Gershwin ME. Macrophage Activation Syndrome in Autoimmune Disease. Int Arch Allergy Immunol 2010; 153: 109-120. 5. Sawhney S, Woo P, Murray KJ. Macrophage activation syndrome: A potentially fatal complication of rheumatic disorders. Arch Dis Child 2001; 85: 421-426. 6. Behrens EM, Beukelman T, Paessler M, Cron RQ. Ocult macrophage activation syndrome in patients with systemic juvenile idiopathic arthritis. J Rheumatol 2007; 34: 1133-1138. 7. Parodi A, Davi S, Pringe AB, Pistorio A, Ruperto N, Magn-manzoni S, et al. Macrophage Activation syndrome in Juvenile Systemic Lupus Erythematosus. Arthritis Rheum 2009; 60(11): 3388-3399. 8. Athreya BH. Is macrophage activation ...

Protein inclusions are a predominant molecular pathology found in numerous neurodegenerative diseases, including amyotrophic lateral sclerosis and Huntington's disease. Protein inclusions form in discrete areas of the brain characteristic to the type of neurodegenerative disease, and coincide with the death of neurons in that region (e.g. spinal cord motor neurons in amyotrophic lateral sclerosis). This suggests that the process of protein misfolding leading to inclusion formation is neurotoxic, and that cell-autonomous and non-cell autonomous mechanisms that maintain protein homeostasis (proteostasis) can, at times, be insufficient to prevent protein inclusion formation in the central nervous system. The heat shock response is a pro-survival pathway induced under conditions of cellular stress that acts to maintain proteostasis through the up-regulation of heat shock proteins, a superfamily of molecular chaperones, other co-chaperones and mitotic regulators. The kinetics and magnitude of the heat shock

Cushing'S Disease Caused By Prednisone. Cushing's Syndrome - Adverse Effects of PrednisoneCushing's syndrome is a condition that is caused by excessive cortisol, which can occur with the use of corticosteroid drugs such as prednisone.A+ cushing s disease caused by prednisone , OnlineDrug☀ , Best Cheap , ☀☀☀ cushing s disease caused by prednisone ☀☀☀. No side effects cushing s disease caused by prednisone,The offer is limited.. Get canine cushings disease caused by prednisone - macario.loan , Discount , ☀☀☀ canine cushings disease caused by prednisone ☀☀☀. We have special offers for you. canine cushings disease caused by prednisone,buy Cushing's syndrome - WikipediaCushing's syndrome is caused by either excessive cortisol-like medication such as prednisone is the most common form of Cushing's syndrome. Cushing's disease A+ cushing s disease caused by prednisone , OnlineDrug☀ , Best Price , ☀☀☀ cushing s disease caused by prednisone ☀☀☀. Are You Searching ...

TY - JOUR. T1 - Autoantibody levels in myositis patients correlate with clinical response during B cell depletion with rituximab. AU - Aggarwal, Rohit. AU - Oddis, Chester V.. AU - Goudeau, Danielle. AU - Koontz, Diane. AU - Qi, Zengbiao. AU - Reed, Ann M.. AU - Ascherman, Dana P.. AU - Levesque, Marc C.. N1 - Funding Information: Grant: R01, National institute of Health/NIAMS AR061298-01; (PI: Chester V. Oddis) 10/2010-09/2014.. PY - 2016/6/1. Y1 - 2016/6/1. N2 - Objectives. To determine the longitudinal trends in serum levels of four myositis-associated autoantibodies: anti-Jo-1, -transcription intermediary factor 1 α (TIF1-α), -signal recognition particle (SRP) and -Mi-2, after B cell depletion with rituximab, and to determine the longitudinal association of these autoantibody levels with disease activity as measured by myositis core-set measures (CSMs). Methods. Treatment-resistant adult and pediatric myositis subjects (n = 200) received rituximab in the 44- week Rituximab in Myositis ...

Treatment of Paget's disease of bone traditionally has been limited to patients with severe disease, defined as serum alkaline phosphatase levels of more than two times the upper limit of normal, bone pain not responsive to analgesics and higher risk for complications such as fracture. Newer antiresorptive treatments, including pamidronate, alendronate, tiludronate and etidronate, offer more widespread therapeutic intervention and shorter treatment courses. Risedronate is a pyridinyl bisphosphonate that is about 1,000 times more potent than etidronate and three to five times more potent than alendronate. These attributes allow for a shorter duration of treatment at a lower dosage. Miller and associates compared the effectiveness of risedronate with that of etidronate in the treatment of Paget's disease of bone.. Patients with documented Paget's disease were included if their serum alkaline phosphatase levels were at least two times the upper limit of normal. Women were required to be ...

Expertise, Disease and Conditions: Bone Disorders, Calcium disorders, Endocrinology, Glucocorticoid Induced Osteoporosis, Hypercalcemia, Hyperparathyroidism, Male Osteoporosis, Metabolic Bone Disease, Osteomalacia, Osteoporosis, Paget's Disease, Pseudohypoparathyroidism, Rickets, Right Heart Catheterization, Tumor-Induced Osteomalacia, X Linked Hypophosphatemic Rickets (XLH ...

Dr Lim Hwee Yong is a medical oncologist practising at Novena Cancer Centre, Mount Elizabeth Novena Hospital, where he provides specialised and personalised care for cancer patients.. Dr Lim is also a visiting consultant medical oncologist at National Cancer Centre Singapore. He received his medical doctor degree from University College Dublin, National University of Ireland. He did his postgraduate training in Internal Medicine at the University of Hawaii and Hematology and Medical Oncology training at Huntsman Cancer Institute, University of Utah. Dr. Lim currently hold the American Board Certification for Internal Medicine, Hematology and Medical Oncology. Upon return to Singapore in 2010, Dr. Lim joins the National Cancer Centre Singapore as a consultant medical oncologist and was a visiting oncologist to the Changi General Hospital, Singapore. He leads and participates actively in various important research involving various gastro-intestinal and hepato-biliary cancers as well as ...

We report data from three patients with severe Paget's disease of bone who were treated with mithramycin.. Mithramycin infusion resulted in a fall in plasma calcium, phosphate, alkaline phosphatase, and urinary hydroxyproline excretion. There was an improvement in calcium and phosphorus balance in two of the three subjects studied. A pronounced or complete relief of bone pain occurred in all three.. We suggest that mithramycin exerts its beneficial effect in Paget's disease of bone by stimulating parathyroid hormone release. The parathyroid hormone released has a predominantly anabolic action on bone since its catabolic action is blocked by mithramycin, which inhibits bone resorption.. ...

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