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Sample records for hungry bone syndrome

  1. Marked increase in bone formation markers after cinacalcet treatment by mechanisms distinct from hungry bone syndrome in a haemodialysis patient

    Science.gov (United States)

    Goto, Shunsuke; Fujii, Hideki; Matsui, Yutaka; Fukagawa, Masafumi

    2010-01-01

    A 59-year-old female who was on dialysis due to diabetic nephropathy was referred to our hospital for severe hyperparathyroidism refractory to intravenous vitamin D receptor activator treatment. With subsequent cinacalcet hydrochloride treatment, parathyroid hormone (PTH) levels were only slightly suppressed. However, progressive increases were observed in serum alkaline phosphatase (ALP) and bone-specific alkaline phosphatase (BAP) levels with mild hypocalcaemia. A bone biopsy, obtained immediately before surgical parathyroidectomy after 3 months of cinacalcet treatment, revealed no disappearance of osteoclasts. These data suggest that cinacalcet hydrochloride treatment may induce a marked promotion of bone formation by mechanisms distinct from hungry bone syndrome that usually develops after parathyroidectomy. PMID:25949410

  2. Hungry bone-syndrom ved vitamin D-mangel

    DEFF Research Database (Denmark)

    Chehaiber, Mohamad M; Jensen, Jens-Erik Beck

    2009-01-01

    An 85-year-old woman was admitted after being bedridden for six months with muscular weakness and diarrhoea. Vitamin 25-OH-D, serum calcium, magnesium and phosphate were low, and parathyroid hormone as well as alkaline phosphatase were increased. Dual x-ray absorption scan showed reduced bone...... mineral density. The patient was treated with calcium, magnesium and vitamin D, initially intravenously and subsequently as tablets. Clinically the patient's condition slowly normalized. Remineralization of the skeleton resulted in consistent hypocalcaemia for more than nine months. Udgivelsesdato: 2009...

  3. Parathyroid Adenoma Located on Anterior Mediastinum and Hungry Bone Syndrome ; Case Report

    Directory of Open Access Journals (Sweden)

    Ali Celik

    2013-10-01

    Full Text Available   Anterior mediastinum is a rare localization for ectopic parathyroid adenoma. This localization seen about 1-2 % in the patient that looked for primary  ypherparathyroidism etiology. On a 33 - years old male patient who had searched for primary   perparathyroidism etiology, an anterior mediastinal lesion which referred to be an ectopic parathyroid adenoma was detected via Tc-99m MIBI. After, total mass excision was performed via sternotomy, pathologic examination reported as parathyroid adenoma. In early postoperative period, hungry bone syndrome was occured. After treatment, the patient whose clinic and laboratory results was normal discharged uneventful. The ectopic paratroid adenomas and their surgical  options and postoperative management has reviewed with literature knowladge  due to this case.

  4. Incidence of and risk factors for hungry bone syndrome in 84 patients with secondary hyperparathyroidism

    Directory of Open Access Journals (Sweden)

    Latus J

    2013-07-01

    Full Text Available Joerg Latus,1 Meike Roesel,1 Peter Fritz,2 Niko Braun,1 Christoph Ulmer,3 Wolfgang Steurer,3 Dagmar Biegger,4 M Dominik Alscher,1 Martin Kimmel1 1Department of Internal Medicine, Division of Nephrology, Robert Bosch Hospital, Stuttgart, Germany; 2Department of Diagnostic Medicine, Robert Bosch Hospital, Stuttgart, Germany; 3Department of Surgery, Robert Bosch Hospital, Stuttgart, Germany; 4Margarete Fischer-Bosch Institute of Clinical Pharmacology, University of Tuebingen, Stuttgart, Germany Introduction: Secondary hyperparathyroidism develops in nearly all patients with end-stage renal disease. Parathyroidectomy is often performed when medical therapy fails. The most common postoperative complication, hungry bone syndrome (HBS, requires early recognition and treatment. Materials and methods: A total of 84 patients who underwent parathyroidectomy because of secondary hyperparathyroidism were investigated. Detailed analysis of laboratory parameters (calcium, phosphate, parathyroid hormone, hemoglobin, and urea levels and baseline characteristics (age at time of surgery, duration of renal replacement therapy, and medication was performed to detect preoperative predictors for the development of HBS. Results: Average overall follow-up of the cohort was 4.7 years. Within this time frame, 13 of 84 patients had to undergo a second surgery because of recurrent disease, and HBS occurred in 51.2%. Only decreased preoperative calcium levels and younger age at time of surgery were significant predictors of HBS. Minimal levels of calcium were detected 3 weeks after surgery. Preoperative vitamin D therapy could not prevent HBS and could not shorten the duration of intravenous calcium supplementation. Conclusion: HBS is a very common complication after parathyroidectomy. Younger patients and patients with low preoperative calcium levels were at higher risk for the development of HBS. Remarkably, preoperative vitamin D therapy could not prevent HBS and had no

  5. Atypical Parathyroid Adenoma Complicated with Protracted Hungry Bone Syndrome after Surgery: A Case Report and Literature Review

    Directory of Open Access Journals (Sweden)

    Óscar Alfredo Juárez-León

    2015-01-01

    Full Text Available Hungry Bone Syndrome refers to the severe and prolonged hypocalcemia and hypophosphatemia, following parathyroidectomy in patients with hyperparathyroidism. We present the case of an eighteen-year-old woman with a four-year history of hyporexia, polydipsia, weight loss, growth retardation, and poor academic performance. The diagnostic work-up demonstrated primary hyperparathyroidism with hypercalcemia of 13.36 mg/dL, a PTH level of 2551 pg/mL, bone brown tumors, and microcalcifications within pancreas and kidneys. Neck ultrasonography revealed a parathyroid adenoma of 33 × 14 × 14 mm, also identified on 99Tc-sestamibi scan. Bone densitometry showed decreased Z-Score values (total lumbar Z-Score of −4.2. A right hemithyroidectomy and right lower parathyroidectomy were performed. Pathological examination showed an atypical parathyroid adenoma, of 3.8 g of weight and 2.8 cm in diameter. After surgery she developed hypocalcemia with tetany and QTc interval prolongation. The patient required 3 months of oral and intravenous calcium supplementation due to Hungry Bone Syndrome (HBS. After 42 months, she is still under oral calcium. Usually HBS lasts less than 12 months. Therefore we propose the term “Protracted HBS” in patients with particularly long recovery of 1 year. We present a literature review of the diagnosis, pathophysiology, and treatment of HBS.

  6. Atypical Parathyroid Adenoma Complicated with Protracted Hungry Bone Syndrome after Surgery: A Case Report and Literature Review

    Science.gov (United States)

    Juárez-León, Óscar Alfredo; Gómez-Sámano, Miguel Ángel; Cuevas-Ramos, Daniel; Almeda-Valdés, Paloma; López-Flores A La Torre, Manuel Alejandro; Reza-Albarrán, Alfredo Adolfo; Gómez-Pérez, Francisco Javier

    2015-01-01

    Hungry Bone Syndrome refers to the severe and prolonged hypocalcemia and hypophosphatemia, following parathyroidectomy in patients with hyperparathyroidism. We present the case of an eighteen-year-old woman with a four-year history of hyporexia, polydipsia, weight loss, growth retardation, and poor academic performance. The diagnostic work-up demonstrated primary hyperparathyroidism with hypercalcemia of 13.36 mg/dL, a PTH level of 2551 pg/mL, bone brown tumors, and microcalcifications within pancreas and kidneys. Neck ultrasonography revealed a parathyroid adenoma of 33 × 14 × 14 mm, also identified on 99Tc-sestamibi scan. Bone densitometry showed decreased Z-Score values (total lumbar Z-Score of −4.2). A right hemithyroidectomy and right lower parathyroidectomy were performed. Pathological examination showed an atypical parathyroid adenoma, of 3.8 g of weight and 2.8 cm in diameter. After surgery she developed hypocalcemia with tetany and QTc interval prolongation. The patient required 3 months of oral and intravenous calcium supplementation due to Hungry Bone Syndrome (HBS). After 42 months, she is still under oral calcium. Usually HBS lasts less than 12 months. Therefore we propose the term “Protracted HBS” in patients with particularly long recovery of 1 year. We present a literature review of the diagnosis, pathophysiology, and treatment of HBS. PMID:26640724

  7. HUNGRY GHOSTS

    Institute of Scientific and Technical Information of China (English)

    2003-01-01

    这部《HUNGRY GHOSTS》是一个以主观视点的3D 动作冒险游戏作品,事的剧情是各位玩家进入这个死亡的世界后努力为了生存而经历各种难关,后来到"命运之门"前接受审判。而这个审判的标准和结局会根据玩家在戏途中的选择和表现而决定,不同的表现会带来多种审判结局,最终向你开的出口中会有什么等待着你呢?而你是否能得到返回真实世界的出口呢?这一切的一切都需要你自己去证实和发掘,在这里先祝你能有好运。

  8. "Hungry Eyes": Visual Processing of Food Images in Adults with Prader-Willi Syndrome

    Science.gov (United States)

    Key, A. P. F.; Dykens, E. M.

    2008-01-01

    Background: Prader-Willi syndrome (PWS) is a genetic disorder associated with intellectual disabilities, compulsivity, hyperphagia and increased risks of life-threatening obesity. Food preferences in people with PWS are well documented, but research has yet to focus on other properties of food in PWS, including composition and suitability for…

  9. Bone marrow edema syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Korompilias, Anastasios V.; Lykissas, Marios G.; Beris, Alexandros E. [University of Ioannina, Department of Orthopaedic Surgery, School of Medicine, Ioannina (Greece); Karantanas, Apostolos H. [University of Crete School of Medicine, Department of Radiology, Heraklion (Greece)

    2009-05-15

    Bone marrow edema syndrome (BMES) refers to transient clinical conditions with unknown pathogenic mechanism, such as transient osteoporosis of the hip (TOH), regional migratory osteoporosis (RMO), and reflex sympathetic dystrophy (RSD). BMES is primarily characterized by bone marrow edema (BME) pattern. The disease mainly affects the hip, the knee, and the ankle of middle-aged males. Many hypotheses have been proposed to explain the pathogenesis of the disease. Unfortunately, the etiology of BMES remains obscure. The hallmark that separates BMES from other conditions presented with BME pattern is its self-limited nature. Laboratory tests usually do not contribute to the diagnosis. Histological examination of the lesion is unnecessary. Plain radiographs may reveal regional osseous demineralization. Magnetic resonance imaging is mainly used for the early diagnosis and monitoring the progression of the disease. Early differentiation from other aggressive conditions with long-term sequelae is essential in order to avoid unnecessary treatment. Clinical entities, such as TOH, RMO, and RSD are spontaneously resolving, and surgical treatment is not needed. On the other hand, early differential diagnosis and surgical treatment in case of osteonecrosis is of crucial importance. (orig.)

  10. Syndromes with congenital brittle bones

    Directory of Open Access Journals (Sweden)

    Plotkin Horacio

    2004-08-01

    Full Text Available Abstract Background There is no clear definition of osteogenesis imperfecta (OI. The most widely used classification of OI divides the disease in four types, although it has been suggested that there may be at least 12 forms of OI. These forms have been named with numbers, eponyms or descriptive names. Some of these syndromes can actually be considered congenital forms of brittle bones resembling OI (SROI. Discussion A review of different syndromes with congenital brittle bones published in the literature is presented. Syndromes are classified in "OI" (those secondary to mutations in the type I pro-collagen genes, and "syndromes resembling OI" (those secondary to mutations other that the type I pro-collagen genes, identified or not. A definition for OI is proposed as a syndrome of congenital brittle bones secondary to mutations in the genes codifying for pro-collagen genes (COL1A1 and COL1A2. Summary A debate about the definition of OI and a possible clinical and prognostic classification are warranted.

  11. Low bone turnover phenotype in Rett syndrome

    DEFF Research Database (Denmark)

    Roende, Gitte; Petersen, Janne; Ravn, Kirstine;

    2014-01-01

    Background:Patients with Rett syndrome (RTT) are at risk of having low bone mass and low-energy fractures.Methods:We characterised bone metabolism by both bone formation and resorption markers in blood in a RTT population of 61 girls and women and 122 well-matched healthy controls. Levels of N...... of the lumbar spine (vBMADspine) and femoral neck (vBMADneck). We examined biochemical bone marker levels overall, and stratified to persons younger than age 25 years or equal to or older than age 25 years.Results:The RTT patients had reduced levels of all biochemical bone markers (p...

  12. Bone status in genetic syndromes: a review.

    Science.gov (United States)

    Stagi, Stefano; Iurato, Chiara; Lapi, Elisabetta; Cavalli, Loredana; Brandi, Maria Luisa; de Martino, Maurizio

    2015-01-01

    More and more data seem to indicate the presence of an increasing number of syndromes and genetic diseases characterized by impaired bone mass and quality. Meanwhile, the improvement of etiopathogenetic knowledge and the employment of more adequate treatments have generated a significant increase in survival related to these syndromes and diseases. It is thus important to identify and treat bone impairment in these patients in order to assure a better quality of life. This review provides an updated overview of bone pathophysiology and characteristics in patients with Down, Turner, Klinefelter, Marfan, Williams, Prader-Willi, Noonan, and 22q11 deletions syndrome. In addition, some options for the treatment of the bone status impairment in these patients will be briefly discussed.

  13. The carpal bones in Poland syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Friedman, Talia [University of Manitoba, Department of Diagnostic Imaging, Winnipeg, MB (Canada); Reed, Martin [University of Manitoba, Department of Diagnostic Imaging, Winnipeg, MB (Canada); University of Manitoba, Children' s Hospital, Department of Paediatrics and Child Health, Winnipeg, MB (Canada); University of Manitoba, Children' s Hospital, Department of Biochemistry and Medical Genetics, Winnipeg, MB (Canada); Elliott, Alison M. [University of Manitoba, Children' s Hospital, Department of Paediatrics and Child Health, Winnipeg, MB (Canada); University of Manitoba, Children' s Hospital, Department of Biochemistry and Medical Genetics, Winnipeg, MB (Canada); University of Manitoba, Program of Genetics and Metabolism, Winnipeg, MB (Canada)

    2009-06-15

    Classical Poland syndrome is represented by unilateral aplasia of the sternocostal head of the pectoralis major muscle and ipsilateral simple syndactyly and brachydactyly. Various classifications of the severity of hand involvement have been proposed. Since its initial description, numerous studies have been made of the bony, soft tissue, organ, and hematological disturbances. However, carpal bone involvement has been largely overlooked. The purpose of this study was to evaluate the carpal bones in patients with Poland syndrome from a local (Manitoba) cohort as well as those from the literature. Hand radiographs from local patients and cases identified from the literature with confirmed Poland syndrome were examined for evidence of carpal bone involvement. Only cases with radiographs of adequate quality were included in the analysis. Clinical information (including gender and age) was necessary for evaluation of bone maturation. In total, seven local patients and 23 patients from the literature were evaluated. Ethics approval for study of the local patients was obtained by the Research Ethics Board of the University of Manitoba. Of the 23 literature patients, 12 patients (52%) had abnormal findings. Of the abnormal patients, four of 12 (33%) had carpal fusions, eight of 12 (67%) showed disharmonious ossification between the carpal and tubular bones and seven of 12 (58%) showed delay of carpal ossification. Of the local cohort, three patients were too young to characterize carpal involvement. Of the four remaining patients, two (50%) had abnormal carpal morphology, three out of four had disharmonious ossification and all four had delay of ossification of carpal bones. Carpal fusions, particularly of the scaphoid and trapezium, were common in both groups. Carpal bone anomalies (delay, disharmony, and/or fusions) are frequent in Poland syndrome and can occur in patients with either mild or severe hand involvement. Imaging of the unaffected hand is helpful in

  14. Bone scintigraphy in painful os peroneum syndrome

    DEFF Research Database (Denmark)

    Jeppesen, Johanne B; Jensen, Frank K; Falborg, Bettina

    2011-01-01

    Lateral foot pain may be caused by various entities including the painful os peroneum syndrome. A case of a 68-year-old man is presented, who experienced a trauma with distortion of the right foot. Nine months later, he still had pain in the lateral part of the right foot. Bone scintigraphy showed...

  15. Bone scintigraphy in painful os peroneum syndrome

    DEFF Research Database (Denmark)

    Jeppesen, Johanne B; Jensen, Frank K; Falborg, Bettina;

    2011-01-01

    Lateral foot pain may be caused by various entities including the painful os peroneum syndrome. A case of a 68-year-old man is presented, who experienced a trauma with distortion of the right foot. Nine months later, he still had pain in the lateral part of the right foot. Bone scintigraphy showe...... uptake in the area where an os peroneum was located and thus confirmed the clinical assumption of painful os peroneum syndrome. Familiarity with the clinical and imaging findings can prevent undiagnosed lateral foot pain....

  16. Black bone syndrome in chiken meat

    Directory of Open Access Journals (Sweden)

    GAA Baldo

    2013-12-01

    Full Text Available Black bone syndrome (BBS affects poultry industry, and it is caused by the darkening of the tissue adjacent to the bone due to leak age of bone marrow contents during cooking. The objective of this experiment was to estimate BBS incidence in chicken thighs. A completely randomized experimental design, with two treatments (refrigerated or frozen of 50 replicates each, was applied. The influence of BBS on meat quality was assessed according to bone lightness (*L, and meat appearance and sensorial characteristics. Lightness was measured using a colorimeter (Minolta® 410R positioned on the proximal epiphyseal growth plate. Meat quality was evaluated after roasting by assigning scores for appearance (acceptable = no darkening, intermediate = little darkened, and unacceptable = severe darkening. Twelve refrigerated and 12 frozen thighs were used for sensorial analysis (adjacent muscle appearance, odor, tenderness, and flavor, assessed using a hedonic scale (1 = bad to 10 = very good by trained panelists. Lightness was submitted to ANOVA and Tukey's test (p37.5=normal. The incidence of BBS was 35%,with a 16%increase thighs were frozen. Meat taste was not influenced by the treatments. Meat appearance, flavor, and tenderness were not affected by freezing or refrigeration, only by BBS degree. It was concluded that freezing increases the incidence of BBS and chicken thighs with bones presenting lower luminosity have worse meat quality.

  17. Transient Bone Marrow Edema Syndrome (Case Report

    Directory of Open Access Journals (Sweden)

    Nilnur Konuralp

    2003-09-01

    Full Text Available Transient bone marrow edema syndrome (BMES is accepted as a possible cause of acute disabling hip pain. This syndrome is defined as local osteoporosis in hip in radiographies, BME in MRI which can be rarely seen and has a self-limiting course. Although the disease generally has a self-limiting course, surgical treatment by early core decompression of the femoral head has proven effective in rapidly relieving the symptoms. Although BMES is relatively rare and probably underdiagnosed when compared to nontraumatic osteonecrosis, both conditions are associated with known osteonecrosis risk factors in middle aged men and especially with late (thirdhad trimester pregnancy in women. We have reported three cases with BMES that had different etiology and followed up presented the differential diagnosis to nontraumatic avascular osteonecrosis. These three cases were treated in early stage very succesfully.

  18. DXA measurements in rett syndrome reveal small bones with low bone mass

    DEFF Research Database (Denmark)

    Roende, Gitte; Ravn, Kirstine; Fuglsang, Kathrine

    2011-01-01

    Low bone mass is reported in growth-retarded patients harboring mutations in the X-linked methyl-CpG-binding protein 2 (MECP2) gene causing Rett syndrome (RTT). We present the first study addressing both bone mineral density (BMD) and bone size in RTT. Our object was to determine whether patients...

  19. Hemolytic uremic syndrome after bone marrow transplantation

    Energy Technology Data Exchange (ETDEWEB)

    Arai, Ayako; Sakamaki, Hisashi; Tanikawa, Shu [Tokyo Metropolitan Komagome Hospital (Japan)] [and others

    1998-06-01

    One hundred and thirteen patients who underwent autologous or allogeneic bone marrow transplantation (BMT) were investigated for the subsequent development of hemolytic uremic syndrome (HUS). HUS developed in seven patients (four males and three females, five acute lymphocytic leukemia (ALL), one acute myelogenous leukemia, one non-Hodgkin`s lymphoma) between 36-196 days after BMT. Four patients were recipients of autologous BMT and three were those of allogeneic BMT. Six patients were preconditioned with the regimens including fractionated total body irradiation (TBI). ALL and preconditioning regimen with TBI were suspected to be the risk factors for the development of HUS. Cyclosporin A (CSP) administration was discontinued in three patients who had been given CSP for graft-versus-host disease prophylaxis. Predonisolone was given to the three patients and plasma exchange was performed in one patient. Both hemolytic anemia and thrombocytopenia were resolved in virtually all patients, while creatinine elevation has persisted along with hypertension in one patient. (author)

  20. Assessment of bone mineral status in children with Marfan syndrome

    Science.gov (United States)

    Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder with skeletal involvement. It is caused by mutations in fibrillin1 (FBN1) gene resulting in activation of TGF-ßeta, which developmentally regulates bone mass and matrix properties. There is no consensus regarding bone minerali...

  1. Bone Fragility in Turner Syndrome: Mechanisms and Prevention Strategies.

    Science.gov (United States)

    Faienza, Maria Felicia; Ventura, Annamaria; Colucci, Silvia; Cavallo, Luciano; Grano, Maria; Brunetti, Giacomina

    2016-01-01

    Bone fragility is recognized as one of the major comorbidities in Turner syndrome (TS). The mechanisms underlying bone impairment in affected patients are not clearly elucidated, but estrogen deficiency and X-chromosomal abnormalities represent important factors. Moreover, although many girls with TS undergo recombinant growth hormone therapy to treat short stature, the efficacy of this treatment on bone mineral density is controversial. The present review will focus on bone fragility in subjects with TS, providing an overview on the pathogenic mechanisms and some prevention strategies.

  2. Association of Bone Mineral Density with the Metabolic Syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Kang, Yeong Han [Dept. of Diagnostic Radiology, Daegu Catholic University Hospital, Daegu (Korea, Republic of); Kam, Shin [Dept. of Preventtive MedicinE, College of Medicine, Kyungpook National University, Daegu (Korea, Republic of)

    2008-09-15

    The purpose of this study was to examine the relationship between bone mineral density (BMD) and the metabolic syndrome. We conducted a cross-sectional study of 1204 adults(males: 364 females: 840) in a general hospital health promotion center. They were grouped into the normal and lower BMD group according to bone loss(osteopenia, osteoporosis), as determined by duel energy X-ray absorptiometery (DEXA). We analyzed the association between BMD and metabolic syndrome by multiple logistic regression analysis. After adjustment for age, weight, alcohol intake, smoking, regular exercise, regular intake of meals, and menopausal status, odds ratios for the prevalence of the metabolic syndrome by gender were calculated for lower BMD. After adjustment for the effect of potential covariates, the prevalence of metabolic syndrome was associated with bone loss in men (p<0.001). If the odds ratio of normal group is 1.00, then that of the lower BMD group is 3.07 (95% CI=1.83-5.16). The prevalence of metabolic alterations fitting the criteria of metabolic syndrome was significantly decreased in High BMI, Low HDL in men and in High BMI in women (p<0.05). This study shows that BMD was associated with metabolic syndrome. Further studies needed to obtain evidence concerning the association between BMD and metabolic syndrome.

  3. Bone marrow edema syndrome in postpartal women: treatment with iloprost.

    Science.gov (United States)

    Aigner, Nicholas; Meizer, Roland; Meraner, Dominik; Becker, Stephan; Meizer, Elizabeth; Landsiedl, Franz

    2009-04-01

    Bone marrow edema syndrome of the femoral head in pregnant women is a rare disease resulting in disabling coxalgia, beginning in the last 3 months of pregnancy and persisting for several months after parturition. The parenteral administration of the vasoactive drug iloprost constitutes a new approach to the treatment of painful bone marrow edema syndrome of the hip of pregnant women. Six postpartal women (8 hips) with bone marrow edema syndrome of the femoral head were treated with iloprost followed by 3 weeks of partial weight-bearing. Relief from pain, restoration of functional capacity, and normalization of the MRI signal pattern were rapidly achieved, thus avoiding the need for surgical intervention. As the substance is contraindicated in pregnancy, therapy may begin only some days after parturition, with a short discontinuation in breastfeeding.

  4. Hungry Guard Foils Heroin Delivery in Burrito

    Institute of Scientific and Technical Information of China (English)

    俞海丽

    2001-01-01

    奇闻之奇,往往发端于巧合。美国Albuquerque城有一监狱,其警卫人员竟然大嚼外面送入班房的玉米煎饼,不料,嚼出异物,这个异物不是别的,而是海洛因!事情因此败露。文章的作者两次对此监管人员使用形容词hungry,如果真是hungry,那倒又是一则奇闻了。】

  5. A Baecklund transformation between two integrable discrete hungry systems

    Energy Technology Data Exchange (ETDEWEB)

    Fukuda, Akiko, E-mail: j1409704@ed.kagu.tus.ac.j [Department of Mathematical Information Science, Graduate School of Science, Tokyo University of Science, 1-3 Kagurazaka, Shinjuku-ku, Tokyo 162-8601 (Japan); Yamamoto, Yusaku [Graduate School of System Informatics, Kobe University, 1-1 Rokkodai-cho, Nada-ku, Kobe 657-8501 (Japan); Iwasaki, Masashi [Department of Informatics and Environmental Science, Kyoto Prefectural University, 1-5, Nakaragi-cho, Shimogamo, Sakyo-ku, Kyoto 606-8522 (Japan); Ishiwata, Emiko [Department of Mathematical Information Science, Tokyo University of Science, 1-3 Kagurazaka, Shinjuku-ku, Tokyo 162-8601 (Japan); Nakamura, Yoshimasa [Graduate School of Informatics, Kyoto University, Yoshida-Honmachi, Sakyo-ku, Kyoto 606-8501 (Japan)

    2011-01-17

    The discrete hungry Toda (dhToda) equation and the discrete hungry Lotka-Volterra (dhLV) system are known as integrable discrete hungry systems. In this Letter, through finding the LR transformations associated with the dhToda equation and the dhLV system, we present a Baecklund transformation between these integrable systems.

  6. [CT findings of the temporal bones in Waardenburg's syndrome].

    Science.gov (United States)

    Irie, K; Ogata, H; Mitsudome, A

    1990-05-01

    We reported three cases of Waardenburg's syndrome and discussed CT findings of the temporal bones. Two cases of these patients were mother and daughter. Case 1, a two-year-old girl, had lateral displacement of the medial canthi, a broad nasal root, hetero-chromic iridis, left ptosis, albinotic fundus, and bilateral congenital deafness. CT findings of the temporal bones showed enlarged vestibules, short lateral semicircular canal, and absent right posterior semicircular canal. The mother had congenital deafness, heterochromia iridis, and a white forelock and showed similar abnormal CT findings of the temporal bones. Case 2, a one-year-old boy, had lateral displacement of the medial canthi, a broad nasal root, partial heterochromia iridis, albinotic fundus, and bilateral congenital deafness. CT findings of the temporal bones showed enlarged vestibules and absence of semicircular canals except the right lateral semicircular canal. These cases were diagnosed as Waardenburg's syndrome on the basis of the characteristic features.

  7. Bone scintigraphy in costo-iliac impingement syndrome

    DEFF Research Database (Denmark)

    Madsen, Jan L

    2008-01-01

    Abstract: A syndrome of back pain caused by impingement of the lowest ribs against the iliac crest has been described in patients with osteoporotic vertebral fractures and loss of height of the patient. A case is presented of an 81-year-old woman with a long history of osteoporosis with compressi...... fractures of several thoracic and lumbar vertebrae. She presented with progressive lower back pain and weight loss. Bone scintigraphy revealed increased uptake in the lower ribs on both sides compatible with the costo-iliac impingement syndrome. There were no signs of bone metastases....

  8. BONE FRAGILITY IN TURNER SYNDROME: MECHANISMS AND PREVENTION STRATEGIES

    Directory of Open Access Journals (Sweden)

    Maria Felicia Faienza

    2016-04-01

    Full Text Available Bone fragility is recognized as one of major comorbidities in Turner Syndrome (TS. The mechanisms underlying bone impairment in affected patients are not clearly elucidated, but estrogen deficiency and X-chromosomal abnormalities represent important factors. Moreover, although many girls with TS undergo recombinant growth hormone (rGH therapy to treat short stature, the efficacy of this treatment on BMD is controversial. The present review will focus on bone fragility in subjects with TS, providing an overview on the pathogenic mechanisms and some prevention strategies.

  9. Bone Mass in Young Adults with down Syndrome

    Science.gov (United States)

    Guijarro, M.; Valero, C.; Paule, B.; Gonzalez-Macias, J.; Riancho, J. A.

    2008-01-01

    Background: Down syndrome (DS) is a frequent cause of intellectual disability. With the increasing life expectancy of these patients, concerns have been raised about the risk of osteoporosis. In fact, several investigators have reported a reduced bone mass in DS. However, the results may be confounded by comorbid diseases, and differences in…

  10. Diffusely increased bone scintigraphic uptake in patellofemoral pain syndrome

    OpenAIRE

    Naslund, J.; Odenbring, S; Naslund, U; Lundeberg, T

    2005-01-01

    Objectives: Painful disorders of the patellofemoral joint are one of the most frequent complaints in orthopaedic and sports medicine. The aims of this study were to determine whether bone scintigrams of patients suffering from patellofemoral pain syndrome (PFPS) show diffuse uptake and in what bony compartment of the knee uptake, if any, was localised.

  11. DXA measurements in Rett syndrome reveal small bones with low bone mass.

    Science.gov (United States)

    Roende, Gitte; Ravn, Kirstine; Fuglsang, Kathrine; Andersen, Henrik; Nielsen, Jytte Bieber; Brøndum-Nielsen, Karen; Jensen, Jens-Erik Beck

    2011-09-01

    Low bone mass is reported in growth-retarded patients harboring mutations in the X-linked methyl-CpG-binding protein 2 (MECP2) gene causing Rett syndrome (RTT). We present the first study addressing both bone mineral density (BMD) and bone size in RTT. Our object was to determine whether patients with RTT do have low BMD when correcting for smaller bones by examination with dual-energy X-ray absorptiometry (DXA). We compared areal BMD (aBMD(spine) and aBMD(total hip) ) and volumetric bone mineral apparent density (vBMAD(spine) and vBMAD(neck) ) in 61 patients and 122 matched healthy controls. Further, spine and hip aBMD and vBMAD of patients were associated with clinical risk factors of low BMD, low-energy fractures, MECP2 mutation groups, and X chromosome inactivation (XCI). Patients with RTT had reduced bone size on the order of 10% and showed lower values of spine and hip aBMD and vBMAD (p bone mass and small bones are evident in RTT, indicating an apparent low-bone-formation phenotype.

  12. Bone malformations in Proteus syndrome: an analysis of bone structural changes and their evolution during growth

    Energy Technology Data Exchange (ETDEWEB)

    Pazzaglia, Ugo E.; Bonaspetti, Giovanni; Ranchetti, Federico [University of Brescia Spedali Civili di Brescia, Orthopaedic Clinic, Brescia (Italy); Beluffi, Giampiero [Fondazione I.R.C.C.S. Policlinico San Matteo, Pediatric Radiology Department, Pavia (Italy)

    2007-08-15

    The radiographic follow-up of a patient with Proteus syndrome is presented. Review of radiographs obtained at 3 years 10 months, 10 years, and 17 years 8 months indicated that the rate of growth in length of the oversized tubular bones of the hands was similar to that of the normal bones of the same hand. This observation supports the view that the primary lesion occurs in the early embryonic period, when the limb bud mesenchyme cells condense and cartilage differentiates producing oversized cartilage anlages, rather than being a defect of bone cell-mediated apposition and modelling processes of bone. Additional radiographs of the pelvis and spine were obtained at age 4 years 10 months and head CT at 8 years 10 months. This pathogenetic mechanism fits well with the hypothesis of somatic mosaicism, which is at present the most credible explanation for the aetiology of Proteus syndrome. Other skeletal malformations recognized as typical of the syndrome can be interpreted as secondary adaptations to the altered mechanical conditions induced by overgrowth of bones. (orig.)

  13. A study of bone marrow failure syndrome in children

    Directory of Open Access Journals (Sweden)

    Gupta V

    2008-01-01

    Full Text Available Background: Bone marrow failure syndrome (BMFS, or aplastic anemia, includes peripheral blood single cytopenias, as well as pancytopenia due to inability of the marrow to effectively produce blood cells. Aim: To study the clinico-hematological profile and etiological factors of bone marrow failure syndrome in children. Setting and Design: This prospective study was carried out in the Department of Pediatrics of a university teaching hospital over 36 months. Materials and Methods: Children with pancytopenia (Hb < 10 g/dl, absolute neutrophil count < 1.5 x 10 9 /L, platelet count < 100 x 10 9 /L and bone marrow cellularity < 25% were included in the study. History of exposure to drugs, socioeconomic status, ethnicity and occupation of father were noted. Bone marrow aspiration; trephine biopsy; Ham test; viral studies for hepatitis A, B and C; and cytogenetic investigations were carried out. Statistical Analysis: Relative risk was estimated by odds ratio (OR with 95% confidence interval (CI in matched cases and controls. Results: Of the 53 children studied, 6 (11.3% were diagnosed as Fanconi anemia. Two cases had features of myelodysplastic syndrome. Forty-five children were labeled as acquired aplastic anemia, of whom one had evidence of hepatitis B infection and two patients (5.8% had paroxysmal nocturnal hemoglobinuria. Aplastic anemia was more common in children from family with lower socioeconomic status; in Muslims; and where the father′s occupation was weaving, dyeing and painting. However, the number was small to make statistically significant conclusions. No correlation could be established with exposure to drugs. Conclusion: Fanconi anemia was responsible for approximately one-tenth of the cases of bone marrow failure syndrome. Majority of the patients had acquired aplastic anemia. Hepatitis B infection was an uncommon cause of acquired aplastic anemia.

  14. The association between metabolic syndrome, bone mineral density, hip bone geometry and fracture risk: The Rotterdam study

    NARCIS (Netherlands)

    T. Muka (Taulant); K. Trajanoska (Katerina); J.C. Kiefte-de Jong (Jessica); L. Oei (Ling); A.G. Uitterlinden (André); A. Hofman (Albert); A. Dehghan (Abbas); M.C. Zillikens (Carola); O.H. Franco (Oscar); F. Rivadeneira Ramirez (Fernando)

    2015-01-01

    textabstractThe association between metabolic syndrome (MS) and bone health remains unclear. We aimed to study the association between MS and hip bone geometry (HBG), femoral neck bone mineral density (FN-BMD), and the risk of osteoporosis and incident fractures. Data of 2040 women and 1510 men part

  15. The association between metabolic syndrome, bone mineral density, hip bone geometry and fracture risk: The Rotterdam study

    NARCIS (Netherlands)

    T. Muka (Taulant); K. Trajanoska (Katerina); J.C. Kiefte-de Jong (Jessica); L. Oei (Ling); A.G. Uitterlinden (André); A. Hofman (Albert); A. Dehghan (Abbas); M.C. Zillikens (Carola); O.H. Franco (Oscar); F. Rivadeneira Ramirez (Fernando)

    2015-01-01

    textabstractThe association between metabolic syndrome (MS) and bone health remains unclear. We aimed to study the association between MS and hip bone geometry (HBG), femoral neck bone mineral density (FN-BMD), and the risk of osteoporosis and incident fractures. Data of 2040 women and 1510 men part

  16. Bone mineral content and bone mineral density are lower in older than in younger females with Rett syndrome

    Science.gov (United States)

    Although bone mineral deficits have been identified in Rett syndrome (RTT), the prevalence of low bone mineral density (BMD) and its association with skeletal fractures and scoliosis has not been characterized fully in girls and women with RTT. Accordingly, we measured total body bone mineral conten...

  17. Bone Mineral Status in Children and Adolescents with Klinefelter Syndrome

    Directory of Open Access Journals (Sweden)

    Stefano Stagi

    2016-01-01

    Full Text Available Objective. Klinefelter syndrome (KS has long-term consequences on bone health. However, studies regarding bone status and metabolism during childhood and adolescence are very rare. Patients. This cross-sectional study involved 40 (mean age: 13.7±3.8 years KS children and adolescents and 80 age-matched healthy subjects. For both patient and control groups, we evaluated serum levels of ionised and total calcium, phosphate, total testosterone, luteinising hormone, follicle stimulating hormone, parathyroid hormone (PTH, 25-hydroxyvitamin D (25(OHD, 1,25-dihydroxyvitamin D, osteocalcin, bone alkaline phosphatase, and urinary deoxypyridinoline concentrations. We also calculated the z-scores of the phalangeal amplitude-dependent speed of sound (AD-SoS and the bone transmission time (BTT. Results. KS children and adolescents showed significantly reduced AD-SoS (p<0.005 and BTT (p<0.0005 z-scores compared to the controls. However, KS patients presented significantly higher PTH (p<0.0001 and significantly lower 25(OHD (p<0.0001, osteocalcin (p<0.05, and bone alkaline phosphatase levels (p<0.005. Interestingly, these metabolic bone disorders were already present in the prepubertal subjects. Conclusions. KS children and adolescents exhibited impaired bone mineral status and metabolism with higher PTH levels and a significant reduction of 25-OH-D and bone formation markers. Interestingly, this impairment was already evident in prepubertal KS patients. Follow-ups should be scheduled with KS patients to investigate and ameliorate bone mineral status and metabolism until the prepubertal ages.

  18. Bone Mineral Status in Children and Adolescents with Klinefelter Syndrome

    Science.gov (United States)

    Stagi, Stefano; Di Tommaso, Mariarosaria; Manoni, Cristina; Scalini, Perla; Chiarelli, Francesco; Verrotti, Alberto; Lapi, Elisabetta; Giglio, Sabrina; Dosa, Laura; de Martino, Maurizio

    2016-01-01

    Objective. Klinefelter syndrome (KS) has long-term consequences on bone health. However, studies regarding bone status and metabolism during childhood and adolescence are very rare. Patients. This cross-sectional study involved 40 (mean age: 13.7 ± 3.8 years) KS children and adolescents and 80 age-matched healthy subjects. For both patient and control groups, we evaluated serum levels of ionised and total calcium, phosphate, total testosterone, luteinising hormone, follicle stimulating hormone, parathyroid hormone (PTH), 25-hydroxyvitamin D (25(OH)D), 1,25-dihydroxyvitamin D, osteocalcin, bone alkaline phosphatase, and urinary deoxypyridinoline concentrations. We also calculated the z-scores of the phalangeal amplitude-dependent speed of sound (AD-SoS) and the bone transmission time (BTT). Results. KS children and adolescents showed significantly reduced AD-SoS (p < 0.005) and BTT (p < 0.0005) z-scores compared to the controls. However, KS patients presented significantly higher PTH (p < 0.0001) and significantly lower 25(OH)D (p < 0.0001), osteocalcin (p < 0.05), and bone alkaline phosphatase levels (p < 0.005). Interestingly, these metabolic bone disorders were already present in the prepubertal subjects. Conclusions. KS children and adolescents exhibited impaired bone mineral status and metabolism with higher PTH levels and a significant reduction of 25-OH-D and bone formation markers. Interestingly, this impairment was already evident in prepubertal KS patients. Follow-ups should be scheduled with KS patients to investigate and ameliorate bone mineral status and metabolism until the prepubertal ages. PMID:27413371

  19. CT findings of the temporal bone in CHARGE syndrome : aspects of importance in cochlear implant surgery

    NARCIS (Netherlands)

    Vesseur, A. C.; Verbist, B. M.; Westerlaan, H. E.; Kloostra, F. J. J.; Admiraal, R. J. C.; van Ravenswaaij-Arts, C. M. A.; Free, R. H.; Mylanus, E. A. M.

    2016-01-01

    To provide an overview of anomalies of the temporal bone in CHARGE syndrome relevant to cochlear implantation (CI), anatomical structures of the temporal bone and the respective genotypes were analysed. In this retrospective study, 42 CTs of the temporal bone of 42 patients with CHARGE syndrome were

  20. Bone cement implantation syndrome during spinal surgery requiring cardiac surgery.

    Science.gov (United States)

    Sastre, José A; López, Teresa; Dalmau, María J; Cuello, Rafael E

    2013-12-15

    During a posterior segmental spinal fusion procedure, a 71-year-old woman developed cardiac and pulmonary embolism characterized by nonsustained ventricular tachycardia during cement injection, rapid and severe hypoxemia, and hemodynamic instability. Management included exploratory cardiotomy under cardiopulmonary bypass and removal of the emboli from the pulmonary vessels. Postoperative recovery was successful, and the patient was discharged without sequelae. We discuss the pathophysiology of bone cement implantation syndrome during spinal fusion, possible causative factors, and treatment alternatives.

  1. The usefulness of bone scintigraphy in SAPHO syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Lim, Seok Tae; Sohn, Myung Hee [School of Medicine, Chonbuk National Univ., Chonju (Korea, Republic of)

    2002-08-01

    SAPHO syndrome is well known to various disease entities including synovitis, acne, pustulosis, hyperostosis and polyarthritis. The purpose of this study is to evaluate sicntigraphic findings and to compare with radiologic findings in SAPHO syndrome. Five patients (M:F=5:0, Age 22.8{+-}4.78 yrs) with SAPHO syndrome were enrolled in our study. All patients underwent whole-body bone scintigraphy with intravenous administration of 740 MBq of Tc-99m MDP. Among them, two patients were additionally perfomed SPECT of the spine to evaluate the location and extent of spinal lesion. All patients were demonstrated abnormal increased uptakes in sternoclavicular joint (SC), sacroiliac joint (SI), and small joints of both hands. Among them, three patients were bilateral involvement (3/5) and two were unilateral (2/5) in SC. Involvement of SI showed bilateral in four patients (4/5) and unilateral in one (1/5). SPECT images demonstrate that the lesion sites of the lumbar spine are more likely facet joints than vertebral bodies or pedicles. As SAPHO syndrome is the disease entity involved polyarticular joints with various dermatologic manifestations, the bone scintigraphy may be a very useful method to evaluate the location and extent of joint involvement, and to avoid inadequate surgical management or ineffective antibiotic treatment.

  2. Normal tempo of bone formation in Turner syndrome despite signs of accelerated bone resorption

    DEFF Research Database (Denmark)

    Cleemann, Line Hartvig; Holm, Kirsten Bagge; Kobbernagel, Hanne;

    2011-01-01

    Aims: To evaluate area bone mineral density (aBMD) and volumetric BMD (vBMD) by dual-energy X-ray absorptiometry, and relations to bone markers and hormones in adolescent women with Turner syndrome (TS). Methods: Cross-sectional study in TS patients (n = 37, 16.7 ± 3.4 years) and control group (n......' TS, compared to controls. vBMD(hip) was lower in 'ongoing GH' TS, but similar in 'previous GH'. z scores for aBMD were uniformly reduced in 'ongoing TS', but near-normalized in 'previous GH' TS. Bone formation and resorption markers were increased in 'ongoing GH' TS, while 'previous GH' TS had...

  3. Normal Tempo of Bone Formation in Turner Syndrome despite Signs of Accelerated Bone Resorption

    DEFF Research Database (Denmark)

    Cleemann, Line; Holm, Kirsten; Kobbernagel, Hanne;

    2011-01-01

    Aims: To evaluate area bone mineral density (aBMD) and volumetric BMD (vBMD) by dual-energy X-ray absorptiometry, and relations to bone markers and hormones in adolescent women with Turner syndrome (TS). Methods: Cross-sectional study in TS patients (n = 37, 16.7 ± 3.4 years) and control group (n......' TS, compared to controls. vBMD(hip) was lower in 'ongoing GH' TS, but similar in 'previous GH'. z scores for aBMD were uniformly reduced in 'ongoing TS', but near-normalized in 'previous GH' TS. Bone formation and resorption markers were increased in 'ongoing GH' TS, while 'previous GH' TS had...

  4. Anatomic and Quantitative Temporal Bone CT for Preoperative Assessment of Branchio-Oto-Renal Syndrome.

    Science.gov (United States)

    Ginat, D T; Ferro, L; Gluth, M B

    2016-12-01

    We describe the temporal bone computed tomography (CT) findings of an unusual case of branchio-oto-renal syndrome with ectopic ossicles that are partially located in the middle cranial fossa. We also describe quantitative temporal bone CT assessment pertaining to cochlear implantation in the setting of anomalous cochlear anatomy associated with this syndrome.

  5. A 21-Week Bone Deposition Promoting Exercise Programme Increases Bone Mass in Young People with Down Syndrome

    Science.gov (United States)

    Gonzalez-Aguero, Alejandro; Vicente-Rodriguez, German; Gomez-Cabello, Alba; Ara, Ignacio; Moreno, Luis A.; Casajus, Jose A.

    2012-01-01

    Aim: To determine whether the bone mass of young people with Down syndrome may increase, following a 21-week conditioning training programme including plyometric jumps. Method: Twenty-eight participants with Down syndrome (13 females, 15 males) aged 10 to 19 years were divided into exercise (DS-E; n = 14; eight females, six males mean age 13y 8mo,…

  6. A 21-Week Bone Deposition Promoting Exercise Programme Increases Bone Mass in Young People with Down Syndrome

    Science.gov (United States)

    Gonzalez-Aguero, Alejandro; Vicente-Rodriguez, German; Gomez-Cabello, Alba; Ara, Ignacio; Moreno, Luis A.; Casajus, Jose A.

    2012-01-01

    Aim: To determine whether the bone mass of young people with Down syndrome may increase, following a 21-week conditioning training programme including plyometric jumps. Method: Twenty-eight participants with Down syndrome (13 females, 15 males) aged 10 to 19 years were divided into exercise (DS-E; n = 14; eight females, six males mean age 13y 8mo,…

  7. Bone mineral density in adults with Down`s syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Angelopoulou, N.; Souftas, V.; Mandroukas, K. [Ergophysiology Lab., Aristotle Univ. of Thessaloniki, Thessaloniki (Greece); Sakadamis, A. [Medical School, Aristotle Univ. of Thessaloniki (Greece)

    1999-05-01

    The objective of the study was to elucidate if individuals with Down`s syndrome (DS) are likely to experience an increased risk of osteoporosis with advancing age, in addition to precocious aging and their skeletal anomalies. Bone mineral density (BMD) was measured in 22 home-reared adults (9 males and 13 females; age 26.22 {+-} 4.45 and 23.65 {+-} 3.23 years, respectively) by dual energy X-ray absorptiometry (DXA). The BMD of the second to fourth lumbar vertebrae was measured in posteroanterior projection and the mean density expressed as grams per square centimetre. The BMD of DS individuals was compared with 27 control subjects (12 males and 15 females) of the same age (age 24.16 {+-} 3.46 and 23.86 {+-} 2.92 years, respectively). The results showed that the BMD of the lumbar spine in the males as well as in the females with DS was significantly lower than that in their control counterparts (p < 0.001). Comparing the DS males with the females, the BMD was lower in the males at a level of 9 %. Factors that contribute to this disorder may be mainly the muscular hypotonia, the sedentary lifestyle and the accompanying diseases which frequently observed in the syndrome. Future studies must be focused on the biochemistry of bone metabolism, the evaluation of gonadal, thyroid and parathyroid function, and the genes of the extra chromosome 21. (orig.) With 1 tab., 21 refs.

  8. Gluteal Compartment Syndrome following an Iliac Bone Marrow Aspiration.

    Science.gov (United States)

    Berumen-Nafarrate, Edmundo; Vega-Najera, Carlos; Leal-Contreras, Carlos; Leal-Berumen, Irene

    2013-01-01

    The compartment syndrome is a condition characterized by a raised hydraulic pressure within a closed and non expandable anatomical space. It leads to a vascular insufficiency that becomes critical once the vascular flow cannot return the fluids back to the venous system. This causes a potential irreversible damage of the contents of the compartment, especially within the muscle tissues. Gluteal compartment syndrome (GCS) secondary to hematomas is seldom reported. Here we present a case of a 51-year-old patient with history of a non-Hodgkin lymphoma who underwent a bone marrow aspiration from the posterior iliac crest that had excessive bleeding at the puncture zone. The patient complained of increasing pain, tenderness, and buttock swelling. Intraoperative pressure validation of the gluteal compartment was performed, and a GCS was diagnosed. The patient was treated with a gluteal region fasciotomy. The patient recovered from pain and swelling and was discharged shortly after from the hospital. We believe clotting and hematologic disorders are a primary risk factor in patients who require bone marrow aspirations or biopsies. It is important to improve awareness of GCS in order to achieve early diagnosis, avoid complications, and have a better prognosis.

  9. Gluteal Compartment Syndrome following an Iliac Bone Marrow Aspiration

    Directory of Open Access Journals (Sweden)

    Edmundo Berumen-Nafarrate

    2013-01-01

    Full Text Available The compartment syndrome is a condition characterized by a raised hydraulic pressure within a closed and non expandable anatomical space. It leads to a vascular insufficiency that becomes critical once the vascular flow cannot return the fluids back to the venous system. This causes a potential irreversible damage of the contents of the compartment, especially within the muscle tissues. Gluteal compartment syndrome (GCS secondary to hematomas is seldom reported. Here we present a case of a 51-year-old patient with history of a non-Hodgkin lymphoma who underwent a bone marrow aspiration from the posterior iliac crest that had excessive bleeding at the puncture zone. The patient complained of increasing pain, tenderness, and buttock swelling. Intraoperative pressure validation of the gluteal compartment was performed, and a GCS was diagnosed. The patient was treated with a gluteal region fasciotomy. The patient recovered from pain and swelling and was discharged shortly after from the hospital. We believe clotting and hematologic disorders are a primary risk factor in patients who require bone marrow aspirations or biopsies. It is important to improve awareness of GCS in order to achieve early diagnosis, avoid complications, and have a better prognosis.

  10. Growth hormone therapy and bone mineral density in Turner syndrome.

    Science.gov (United States)

    Bakalov, Vladimir K; Van, Phillip L; Baron, Jeffrey; Reynolds, James C; Bondy, Carolyn A

    2004-10-01

    In a previous report, preliminary data showed a significant reduction in cortical bone mineral density (BMD) in women with Turner syndrome that had been treated with GH compared with women with Turner syndrome that had not been treated. To clarify this point, we have investigated the effects of GH treatment at multiple sites in this case-control, cross-sectional study. There were 23 women per group, who were similar in age, height, body mass index, estrogen use, and ethnic makeup. Median age (range) at start and duration of GH treatment was 9 (3-17) and 5 (2-9) yr, respectively. GH-treated women had a slightly greater ( approximately 8%, P = 0.03) width of the radial shaft, but otherwise there were no significant differences between groups in bone dimensions or BMD at the distal radius, lumbar spine, or femoral neck. Furthermore, regression analysis in a linear model including independent variables of age, age at diagnosis, body mass index, presence of spontaneous puberty, and GH use confirmed that GH use did not contribute to variation in BMD.

  11. Gluteal Compartment Syndrome following an Iliac Bone Marrow Aspiration

    Science.gov (United States)

    Vega-Najera, Carlos; Leal-Contreras, Carlos; Leal-Berumen, Irene

    2013-01-01

    The compartment syndrome is a condition characterized by a raised hydraulic pressure within a closed and non expandable anatomical space. It leads to a vascular insufficiency that becomes critical once the vascular flow cannot return the fluids back to the venous system. This causes a potential irreversible damage of the contents of the compartment, especially within the muscle tissues. Gluteal compartment syndrome (GCS) secondary to hematomas is seldom reported. Here we present a case of a 51-year-old patient with history of a non-Hodgkin lymphoma who underwent a bone marrow aspiration from the posterior iliac crest that had excessive bleeding at the puncture zone. The patient complained of increasing pain, tenderness, and buttock swelling. Intraoperative pressure validation of the gluteal compartment was performed, and a GCS was diagnosed. The patient was treated with a gluteal region fasciotomy. The patient recovered from pain and swelling and was discharged shortly after from the hospital. We believe clotting and hematologic disorders are a primary risk factor in patients who require bone marrow aspirations or biopsies. It is important to improve awareness of GCS in order to achieve early diagnosis, avoid complications, and have a better prognosis. PMID:24392235

  12. Cytokine production by bone marrow mononuclear cells in inherited bone marrow failure syndromes.

    Science.gov (United States)

    Matsui, Ken; Giri, Neelam; Alter, Blanche P; Pinto, Ligia A

    2013-10-01

    Fanconi anaemia (FA), dyskeratosis congenita (DC), Diamond-Blackfan anaemia (DBA), and Shwachman-Diamond syndrome (SDS) are characterized by the progressive development of bone marrow failure. Overproduction of tumour necrosis factor-α (TNF-α) from activated bone marrow T-cells has been proposed as a mechanism of FA-related aplasia. Whether such overproduction occurs in the other syndromes is unknown. We conducted a comparative study on bone marrow mononuclear cells to examine the cellular subset composition and cytokine production. We found lower proportions of haematopoietic stem cells in FA, DC, and SDS, and a lower proportion of monocytes in FA, DC, and DBA compared with controls. The T- and B-lymphocyte proportions were similar to controls, except for low B-cells in DC. We did not observe overproduction of TNF-α or IFN-γ by T-cells in any patients. Induction levels of TNF-α, interleukin (IL)-6, IL-1β, IL-10, granulocyte colony-stimulating factor, and granulocyte-macrophage colony-stimulating factor in monocytes stimulated with high-dose lipopolysaccharide (LPS) were similar at 4 h but lower at 24 h when compared to controls. Unexpectedly, patient samples showed a trend toward higher cytokine level in response to low-dose (0·001 μg/ml) LPS. Increased sensitivity to LPS may have clinical implications and could contribute to the development of pancytopenia by creating a chronic subclinical inflammatory micro-environment in the bone marrow. © Published 2013. This article is a U.S. Government work and is in the public domain in the U.S.A.

  13. Skull Base Aneurysmal Bone Cyst Presented with Foramen Jugular Syndrome and Multi-Osseous Involvement

    Directory of Open Access Journals (Sweden)

    Leila Aghaghazvini

    2012-01-01

    Full Text Available Aneurysmal bone cyst (ABC is an expansile bone lesion that usually involves the long bones. Skull base involvement is rare. Hereby, we describe a 17-year-old man with hoarseness, facial asymmetry, left sided sensorineural hearing loss and left jugular foramen syndrome. CT scan and MRI showed a skull base mass that was confirmed as ABC in histopathology. The case was unusual and interesting due to the clinical presentation of jugular foramen syndrome and radiological findings such as severe enhancement and multiosseous involvement.Keywords: Bone Cysts,Aneurysmal,Petrous Bone,Skull Base,Cranial Fossa,Posterior

  14. An Unusual Bone Metastasis Mimicking SAPHO (Synovitis, Acne, Pustulosis, Hyperostosis, and Osteitis) Syndrome on Bone Scintigraphy.

    Science.gov (United States)

    Ni, Jianming; Tang, Ping

    2016-02-01

    The costosternoclavicular region is not a common bone metastasis site, and symmetrical involvement is even rarer. Increased tracer uptake in the manubrium and sternoclavicular joints usually gives the typical "bull-horn" appearance seen in SAPHO syndrome (synovitis, acne, pustulosis, hyperostosis, and osteitis). Herein, we report a case of a 47-year-old woman with a history of invasive ductal carcinoma who had undergone left radical mastectomy 3 years earlier and presented with typical increased tracer uptake in the bilateral sternocostoclavicular region resembling the so-called bull horn. The final diagnosis of metastasis from breast cancer was made histopathologically following biopsy.

  15. Bone Scintigraphy Findings of A Case with Maffucci's Syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Sang Mi; Lee, Jong Jin; Kim, Yu Kyeong; Lee, Jeong Won; Chung, Jin Haeng; Kim, Sang Eun [Seoul National University Bundang Hospital, Seoul (Korea, Republic of)

    2010-06-15

    Maffucci's syndrome is a sporadic rare congenital disease that is characterized by enchondromatosis and soft tissue hemangiomas. A systemic evaluation should be considered because this syndrome is related to generalized meso dermal dysplasia, which has a high likelihood of a malignant transformation. Whole-body bone scintigraphy might be helpful for detecting skeletal involvement. We present a case of Maffucci's syndrome suing bone scintigraphy to evaluate the extent of the disease.

  16. Frequency and natural history of inherited bone marrow failure syndromes: the Israeli Inherited Bone Marrow Failure Registry.

    Science.gov (United States)

    Tamary, Hannah; Nishri, Daniella; Yacobovich, Joanne; Zilber, Rama; Dgany, Orly; Krasnov, Tanya; Aviner, Shraga; Stepensky, Polina; Ravel-Vilk, Shoshana; Bitan, Menachem; Kaplinsky, Chaim; Ben Barak, Ayelet; Elhasid, Ronit; Kapelusnik, Joseph; Koren, Ariel; Levin, Carina; Attias, Dina; Laor, Ruth; Yaniv, Isaac; Rosenberg, Philip S; Alter, Blanche P

    2010-08-01

    Inherited bone marrow failure syndromes are rare genetic disorders characterized by bone marrow failure, congenital anomalies, and cancer predisposition. Available single disease registries provide reliable information regarding natural history, efficacy and side effects of treatments, and contribute to the discovery of the causative genes. However, these registries could not shed light on the true incidence of the various syndromes. We, therefore, established an Israeli national registry in order to investigate the relative frequency of each of these syndromes and their complications. Patients were registered by their hematologists in all 16 medical centers in Israel. We included patients with Fanconi anemia, severe congenital neutropenia, Diamond-Blackfan anemia, congenital amegakaryocytic thrombocytopenia, dyskeratosis congenita, Shwachman-Diamond syndrome, and thrombocytopenia with absent radii. One hundred and twenty-seven patients diagnosed between 1966 and 2007 were registered. Fifty-two percent were found to have Fanconi anemia, 17% severe congenital neutropenia, 14% Diamond-Blackfan anemia, 6% congenital amegakaryocytic thrombocytopenia, 5% dyskeratosis congenita, 2% Shwachman-Diamond syndrome, and 2% thrombocytopenia with absent radii. No specific diagnosis was made in only 2 patients. Of the thirty patients (24%) developing severe bone marrow failure, 80% had Fanconi anemia. Seven of 9 patients with leukemia had Fanconi anemia, as did all 6 with solid tumors. Thirty-four patients died from their disease; 25 (74%) had Fanconi anemia and 6 (17%) had severe congenital neutropenia. This is the first comprehensive population-based study evaluating the incidence and complications of the different inherited bone marrow failure syndromes. By far the most common disease was Fanconi anemia, followed by severe congenital neutropenia and Diamond-Blackfan anemia. Fanconi anemia carried the worst prognosis, with severe bone marrow failure and cancer susceptibility

  17. [Weil's syndrome with bone marrow involvement after collecting walnuts].

    Science.gov (United States)

    Wenz, M; Gorissen, B; Wieshammer, S

    2001-10-12

    A 65 year-old man was transferred to our department from a neighbouring hospital with anuria and epistaxis. A few days prior to hospitalization, he had experienced severe muscular and joint pain accompanied by chills. A careful history revealed that, in recent weeks, the patient had frequently collected wild walnuts growing, for the most part, on the banks of a small stream, known to have an infestation of rats. The physical examination revealed pronounced jaundice of the skin and sclerae, and petechia on the lower legs. Laboratory results showed marked thrombocytopenia, hyperbilirubinaemia, appreciably elevated urine retention parameters and increased C-reactive protein. During the subsequent course of his illness, serum leptospiral antibody titres were elevated, indicating an acute leptospiral infection manifesting as Weil's syndrome. Silver staining (>Warthin-Starry<) revealed rod-shaped bacteria, presumably representing leptospires, in some bone marrow macrophages. Treatment with i. v. penicillin was immediately initiated, and urine output established by intravenous fluid resuscitation in the intensive care unit, so that haemodialysis was not necessary. The platelet count returned to normal and bilirubin began to decrease again. The patient was discharged home after 2 weeks in the hospital. When a patient presents with the triad of renal failure, jaundice and thrombocytpenia in the setting of a possible infection, then the severe form of leptospirosis known as Weil inverted question marks syndrome must be considered, and antibiotic treatment initiated without delay. Of importance for the definitive diagnosis is the repeated determination of the titres of antibodies to leptospires in the serum and urine, which usually become positive only in the second week of the illness. In our case, we detected bacteria directly in some bone marrow macrophages as well.

  18. Hematopoietic Acute Radiation Syndrome (Bone marrow syndrome, Aplastic Anemia): Molecular Mechanisms of Radiation Toxicity.

    Science.gov (United States)

    Popov, Dmitri

    Key Words: Aplastic Anemia (AA), Pluripotential Stem Cells (PSC) Introduction: Aplastic Anemia (AA) is a disorder of the pluripotential stem cells involve a decrease in the number of cells of myeloid, erythroid and megakaryotic lineage [Segel et al. 2000 ]. The etiology of AA include idiopathic cases and secondary aplastic anemia after exposure to drugs, toxins, chemicals, viral infections, lympho-proliferative diseases, radiation, genetic causes, myelodisplastic syndromes and hypoplastic anemias, thymomas, lymphomas. [Brodskyet al. 2005.,Modan et al. 1975., Szklo et al. 1975]. Hematopoietic Acute Radiation Syndrome (or Bone marrow syndrome, or Radiation-Acquired Aplastic Anemia) is the acute toxic syndrome which usually occurs with a dose of irradiation between 0.7 and 10 Gy (70- 1000 rads), depending on the species irradiated. [Waselenko et al., 2004]. The etiology of bone morrow damage from high-level radiation exposure results depends on the radiosensitivity of certain bone marrow cell lines. [Waselenko et al. 2004] Aplastic anemia after radiation exposure is a clinical syndrome that results from a marked disorder of bone marrow blood cell production. [Waselenko et al. 2004] Radiation hematotoxicity is mediated via genotoxic and other specific toxic mechanisms, leading to aplasia, cell apoptosis or necrosis, initiation via genetic mechanisms of clonal disorders, in cases such as the acute radiation-acquired form of AA. AA results from radiation injury to pluripotential and multipotential stem cells in the bone marrow. The clinical signs displayed in reticulocytopenia, anemia, granulocytopenia, monocytopenia, and thrombocytopenia. The number of marrow CD34+ cells (multipotential hematopoietic progenitors) and their derivative colony-forming unit{granulocyte-macrophage (CFU-GM) and burst forming unit {erythroid (BFU{E) are reduced markedly in patients with AA. [Guinan 2011, Brodski et al. 2005, Beutler et al.,2000] Cells expressing CD34 (CD34+ cell) are normally

  19. Normal bone mineral content but unfavourable muscle/fat ratio in Klinefelter syndrome

    DEFF Research Database (Denmark)

    Aksglaede, L.; Mølgaard, Christian; Skakkebaek, N.E.;

    2008-01-01

    OBJECTIVE: To evaluate body composition and bone mineral content (BMC) in children and adolescents with Klinefelter syndrome (KS). DESIGN: Retrospective cross-sectional study. SETTING: Tertiary endocrine clinic at the University Hospital, Copenhagen. PATIENTS: Eighteen untreated boys with KS and ...

  20. Study on phenotypic and cytogenetic characteristics of bone marrow mesenchymal stem cells in myelodysplastic syndromes

    Institute of Scientific and Technical Information of China (English)

    宋陆茜

    2013-01-01

    Objective To investigate phenotype,cell differentiation and cytogenetic properties of bone marrow(BM) mesenchymal stem cells(MSC)separated from the myelodysplastic syndrome(MDS) patients,and to analyze cytogenetic

  1. Bone Mineral Density in Sheehan's Syndrome; Prevalence of Low Bone Mass and Associated Factors.

    Science.gov (United States)

    Chihaoui, Melika; Yazidi, Meriem; Chaker, Fatma; Belouidhnine, Manel; Kanoun, Faouzi; Lamine, Faiza; Ftouhi, Bochra; Sahli, Hela; Slimane, Hedia

    2016-10-01

    Hypopituitarism is a known cause of bone mineral loss. This study aimed to evaluate the frequency of osteopenia and osteoporosis in patients with Sheehan's syndrome (SS) and to determine the risk factors. This is a retrospective study of 60 cases of SS that have had a bone mineral density (BMD) measurement. Clinical, biological, and therapeutic data were collected. The parameters of osteodensitometry at the femoral neck and the lumbar spine of 60 patients with SS were compared with those of 60 age-, height-, and weight-matched control women. The mean age at BMD measurement was 49.4 ± 9.9 yr (range: 25-76 yr). The mean duration of SS was 19.3 ± 8.5 yr (range: 3-41 yr). All patients had corticotropin deficiency and were treated with hydrocortisone at a mean daily dose of 26.3 ± 4.1 mg. Fifty-seven patients (95%) had thyrotropin deficiency and were treated with thyroxine at a mean daily dose of 124.3 ± 47.4 µg. Thirty-five of the 49 patients, aged less than 50 yr at diagnosis and having gonadotropin deficiency (71.4%), had estrogen-progesterone substitution. Osteopenia was present in 25 patients (41.7%) and osteoporosis in 21 (35.0%). The BMD was significantly lower in the group with SS than in the control group (p < 0.001). The odds ratio of osteopenia-osteoporosis was 3.1 (95% confidence interval: 1.4-6.8) at the femoral neck and 3.7 (95% confidence interval: 1.7-7.8) at the lumbar spine. The lumbar spine was more frequently affected by low bone mineral mass (p < 0.05). The duration of the disease and the daily dose of hydrocortisone were independently and inversely associated with BMD at the femoral neck. The daily dose of thyroxine was independently and inversely associated with BMD at the lumbar spine. Estrogen-progesterone replacement therapy was not associated with BMD. Low bone mineral mass was very common in patients with SS. The lumbar spine was more frequently affected. The duration of the disease and the doses of

  2. Relationship between metabolic syndrome and its components with bone densitometry in postmenopausal women.

    Science.gov (United States)

    Abbasi, Mahnaz; Farzam, Seyed Amir; Mamaghani, Zahra; Yazdi, Zohreh

    2016-12-15

    Prevention of osteoporosis and bone fracture and the relationship between metabolic syndrome and bone density are controversial issues. The aim of this study was to evaluate the association between metabolic syndrome and its components with bone mineral density in post menopausal women referred for bone mineral density (BMD) test. A total of 143 postmenopausal women with at least one year of menopause experience participated in this cross-sectional study. Demographic and anthropometric characteristics for all participants were collected. Also, biochemical parameters including fasting blood sugar, Cholesterol (HDL and LDL), triglyceride were measured. Association between the components of metabolic syndrome and bone densitometry were analyzed by statistical methods. In this study, 72% of participants did not have metabolic syndrome. Among them, 43.4% and 28.7% had osteoporosis and normal density, respectively. Of remaining participants with metabolic syndrome, 12.6% and 15.4% had osteoporosis and normal density, respectively. Among the metabolic syndrome components, waist circumference, HDL cholesterol, and waist to hip ratio were significantly associated with bone mass (Pwomen had lower waist circumference and waist to hip ratio and higher HDL than women without osteoporosis. On the other hand, women with metabolic syndrome did not have significant differences than women without metabolic syndrome in terms of lumbar and femoral neck density (P>0.05). Results from this study showed that metabolic syndrome and its components did not induce bone mass loss. The discrepancies of the studies in this area call for more large scale studies in population so as to prevent women problems in this area. Copyright © 2016 Diabetes India. Published by Elsevier Ltd. All rights reserved.

  3. Bone marrow aspiration

    Science.gov (United States)

    Iliac crest tap; Sternal tap; Leukemia - bone marrow aspiration; Aplastic anemia - bone marrow aspiration; Myelodysplastic syndrome - bone marrow aspiration; Thrombocytopenia - bone marrow aspiration; Myelofibrosis - bone marrow aspiration

  4. Value of bone scan in the McCune-Albright syndrome. Report of a case

    Energy Technology Data Exchange (ETDEWEB)

    Edeburn, G.F.; Mortensson, W.

    Bone scintigraphy proved valuable in diagnosing McCune-Albright's syndrome in a 6-year-old girl by detecting multiple, non-symptomatic foci in the skull, axial skeleton and in the extremities. Subsequent roentgen examination showed abnormal bone structure in the affected areas, consistent with fibrous dysplasia.

  5. Intrauterine dwarfism, peculiar facies and thin bones with multiple fractures - a new syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Kozlowski, K.; Kan, A.

    1988-07-01

    Three newborns with thin ribs and thin long bones with multiple fractures are reported. Whereas one patient presents a syndromic association of bone dysplasia and intrauterine dwarfism two other patients cannot be appropriately evaluated due to lack of basic clinical and pathologic data.

  6. Cushing's syndrome and bone mineral density: lowest Z scores in young patients.

    NARCIS (Netherlands)

    Eerden, A.W.A.; Heijer, M. den; Oyen, W.J.G.; Hermus, A.R.M.M.

    2007-01-01

    Background: Patients with Cushing's syndrome have a high prevalence of osteoporotic fractures. Little is known about factors determining bone mineral density (BMD) in these patients. Objective: To evaluate which factors influence BMD at the time of diagnosis of Cushing's syndrome. Methods: In 77

  7. Cushing's syndrome and bone mineral density: lowest Z scores in young patients.

    NARCIS (Netherlands)

    Eerden, A.W.A.; Heijer, M. den; Oyen, W.J.G.; Hermus, A.R.M.M.

    2007-01-01

    Background: Patients with Cushing's syndrome have a high prevalence of osteoporotic fractures. Little is known about factors determining bone mineral density (BMD) in these patients. Objective: To evaluate which factors influence BMD at the time of diagnosis of Cushing's syndrome. Methods: In 77 con

  8. Hungry Volterra equation, multi boson KP hierarchy and Two Matrix Models

    CERN Document Server

    Hisakado, M

    1998-01-01

    We consider the hungry Volterra hierarchy from the view point of the multi boson KP hierarchy. We construct the hungry Volterra equation as the ``fractional '' BT. We also study the relations between the (discrete time) hungry Volterra equation and two matrix models. From this point of view we study the reduction from (discrete time) 2d Toda lattice to the (discrete time) hungry Volterra equation.

  9. Skull base aneurysmal bone cyst presented with foramen jugular syndrome and multi-osseous involvement.

    Science.gov (United States)

    Aghaghazvini, Leila; Sedighi, Nahid; Karami, Parisa; Yeganeh, Omid

    2012-09-01

    Aneurysmal bone cyst (ABC) is an expansile bone lesion that usually involves the long bones. Skull base involvement is rare. Hereby, we describe a 17-year-old man with hoarseness, facial asymmetry, left sided sensorineural hearing loss and left jugular foramen syndrome. CT scan and MRI showed a skull base mass that was confirmed as ABC in histopathology. The case was unusual and interesting due to the clinical presentation of jugular foramen syndrome and radiological findings such as severe enhancement and multiosseous involvement.

  10. An unusual cause of the quadrilateral space impingement syndrome by a bone spike

    Energy Technology Data Exchange (ETDEWEB)

    Amin, Mohammed F.; Berst, Matthew; El-Khoury, George Y. [University of Iowa Hospitals and Clinics, Radiology, Iowa City, IO (United States)

    2006-12-15

    The quadrilateral space impingement syndrome is a clinical syndrome resulting from compression of the axillary nerve and the posterior circumflex humeral artery, with subsequent focal atrophy of the teres minor, with or without involvement of portions of the deltoid muscle. This entity has many etiologies. We are reporting a case of this syndrome caused by a bone spike from a malunited old scapular fracture following a motor vehicle accident. The bone spike impinged on the axillary nerve as it passes through the quadrilateral space, causing focal atrophy of the teres minor muscle. The abnormality was well demonstrated by MD-CT. (orig.)

  11. Multiple Low Energy Long Bone Fractures in the Setting of Rothmund-Thomson Syndrome

    Directory of Open Access Journals (Sweden)

    Nicholas Beckmann

    2015-01-01

    Full Text Available Rothmund-Thomson syndrome is a rare autosomal recessive genodermatosis characterized by a poikilodermatous rash starting in infancy as well as various skeletal anomalies, juvenile cataracts, and predisposition to certain cancers. Although Rothmund-Thomson syndrome is associated with diminished bone mineral density in addition to multiple skeletal abnormalities, there are few reports of the association with stress fractures or pathologic fractures in low energy trauma or delayed healing of fractures. Presented is a case of a young adult male with Rothmund-Thomson syndrome presenting with multiple episodes of long bone fractures caused by low energy trauma with one of the fractures exhibiting significantly delayed healing. The patient was also found to have an asymptomatic stress fracture of the lower extremity, another finding of Rothmund-Thomson syndrome rarely reported in the literature. A thorough review of the literature and comprehensive presentation of Rothmund-Thomson syndrome is provided in conjunction with our case.

  12. Compromised trabecular microarchitecture and lower finite element estimates of radius and tibia bone strength in adults with turner syndrome

    DEFF Research Database (Denmark)

    Hansen, Stinus; Brixen, Kim; Gravholt, Claus H

    2012-01-01

    Although bone mass appear ample for bone size in Turner syndrome (TS), epidemiological studies have reported an increased risk of fracture in TS. We used high-resolution peripheral quantitative computed tomography (HR-pQCT) to measure standard morphological parameters of bone geometry and microar......Although bone mass appear ample for bone size in Turner syndrome (TS), epidemiological studies have reported an increased risk of fracture in TS. We used high-resolution peripheral quantitative computed tomography (HR-pQCT) to measure standard morphological parameters of bone geometry...

  13. Hearing rehabilitation in Treacher Collins Syndrome with bone anchored hearing aid

    Directory of Open Access Journals (Sweden)

    José Fernando Polanski

    2015-12-01

    Full Text Available Objective: To describe a case of hearing rehabilitation with bone anchored hearing aid in a patient with Treacher Collins syndrome. Case description: 3 years old patient, male, with Treacher Collins syndrome and severe complications due to the syndrome, mostly related to the upper airway and hearing. He had bilateral atresia of external auditory canals, and malformation of the pinna. The initial hearing rehabilitation was with bone vibration arch, but there was poor acceptance due the discomfort caused by skull compression. It was prescribed a model of bone-anchored hearing aid, in soft band format. The results were evaluated through behavioral hearing tests and questionnaires Meaningful Use of Speech Scale (MUSS and Infant-Toddler Meaningful Auditory Integration Scale (IT-MAIS. Comments: The patient had a higher acceptance of the bone-anchored hearing aid compared to the traditional bone vibration arch. Audiological tests and the speech and auditory skills assessments also showed better communication and hearing outcomes. The bone-anchored hearing aid is a good option in hearing rehabilitation in this syndrome.

  14. Hearing rehabilitation in Treacher Collins Syndrome with bone anchored hearing aid

    Science.gov (United States)

    Polanski, José Fernando; Plawiak, Anna Clara; Ribas, Angela

    2015-01-01

    Objective: To describe a case of hearing rehabilitation with bone anchored hearing aid in a patient with Treacher Collins syndrome. Case description: 3 years old patient, male, with Treacher Collins syndrome and severe complications due to the syndrome, mostly related to the upper airway and hearing. He had bilateral atresia of external auditory canals, and malformation of the pinna. The initial hearing rehabilitation was with bone vibration arch, but there was poor acceptance due the discomfort caused by skull compression. It was prescribed a model of bone-anchored hearing aid, in soft band format. The results were evaluated through behavioral hearing tests and questionnaires Meaningful Use of Speech Scale (MUSS) and Infant-Toddler Meaningful Auditory Integration Scale (IT-MAIS). Comments: The patient had a higher acceptance of the bone-anchored hearing aid compared to the traditional bone vibration arch. Audiological tests and the speech and auditory skills assessments also showed better communication and hearing outcomes. The bone-anchored hearing aid is a good option in hearing rehabilitation in this syndrome. PMID:26298651

  15. Turner′s syndrome presenting as metabolic bone disease

    Directory of Open Access Journals (Sweden)

    Sadishkumar Kamalanathan

    2012-01-01

    Full Text Available Turner′s syndrome is a genetic disorder with a complete or partial absence of one X chromosome with characteristic phenotypic features. The prevalence of renal anomalies in turner syndrome is 30-40%. However, the renal function is usually normal. We report a case of Turner′s syndrome presenting with chronic kidney disease and renal osteodystrophy.

  16. Bone geometry, volumetric density, microarchitecture, and estimated bone strength assessed by HR-pQCT in Klinefelter syndrome

    DEFF Research Database (Denmark)

    Shanbhogue, Vikram V; Hansen, Stinus; Jørgensen, Niklas Rye;

    2014-01-01

    and height with 31 healthy subjects aged 35.9 ± 8.2 years. Dual-energy X-ray absorptiometry (DXA) and HR-pQCT were performed in all participants, and blood samples were analyzed for hormonal status and bone biomarkers in KS patients. Twenty-one KS patients were on long-term testosterone-replacement therapy.......03) at the tibia in KS patients. In addition, cortical thickness was significantly reduced, both at the radius and tibia (both p testosterone therapy. This study......Although the expected skeletal manifestations of testosterone deficiency in Klinefelter's syndrome (KS) are osteopenia and osteoporosis, the structural basis for this is unclear. The aim of this study was to assess bone geometry, volumetric bone mineral density (vBMD), microarchitecture...

  17. IMPACT OF IMMUNOGENETIC POLYMORPHISMS ON IMMUNE RESPONSE AND CLINICAL FEATURES IN BONE MARROW FAILURE SYNDROMES

    OpenAIRE

    2008-01-01

    Hematopietic stem cells (HSC) are responsible for the production of mature blood cells in bone marrow; peripheral pancytopenia may result from several different conditions, including hematological or extra-hematological diseases (mostly cancers) affecting the marrow function as well as primary failure of hematopoiesis. Although the clinical presentation may appear homogeneous, primary bone marrow failure syndromes are a heterogeneous group of diseases with specific pathogenic mechanisms, whic...

  18. Low bone turnover and low BMD in Down syndrome: effect of intermittent PTH treatment.

    Directory of Open Access Journals (Sweden)

    Tristan W Fowler

    Full Text Available Trisomy 21 affects virtually every organ system and results in the complex clinical presentation of Down syndrome (DS. Patterns of differences are now being recognized as patients' age and these patterns bring about new opportunities for disease prevention and treatment. Low bone mineral density (BMD has been reported in many studies of males and females with DS yet the specific effects of trisomy 21 on the skeleton remain poorly defined. Therefore we determined the bone phenotype and measured bone turnover markers in the murine DS model Ts65Dn. Male Ts65Dn DS mice are infertile and display a profound low bone mass phenotype that deteriorates with age. The low bone mass was correlated with significantly decreased osteoblast and osteoclast development, decreased bone biochemical markers, a diminished bone formation rate and reduced mechanical strength. The low bone mass observed in 3 month old Ts65Dn mice was significantly increased after 4 weeks of intermittent PTH treatment. These studies provide novel insight into the cause of the profound bone fragility in DS and identify PTH as a potential anabolic agent in the adult low bone mass DS population.

  19. Bone marrow edema syndrome of the foot: one year follow-up with MR imaging

    Energy Technology Data Exchange (ETDEWEB)

    Fernandez-Canton, Guillermo; Casado, Oscar; Capelastegui, Ana; Astigarraga, Elena; Larena, Jose Alejandro; Merino, Amaya [OSATEK, Unidades de Resonancia Magnetica, Dr. Areilza 12-16, 48011, Bilbao, Basque Country (Spain)

    2003-05-01

    To describe the MR findings of bone marrow edema syndrome (BMES) of the foot and its evolution at 1 year follow-up.Design and patients Twenty-five of 32 patients with disabling foot and ankle pain unrelated to trauma diagnosed as BMES when MR imaging demonstrated a bone marrow edema pattern in one or more bones without any radiological or underlying clinical cause, were re-evaluated by MR imaging 1 year later. On the initial MR examinations an average of 4.7 individual bones were involved by bone marrow edema. Soft tissue edema was present in every patient and joint effusion in 10 patients. MR imaging at 1 year showed resolution of bone edema in 18 patients (72%), partial improvement in five (20%) and no improvement in two (8%). Six patients (24%) developed similar symptoms in the other foot during follow-up. Ten of 17 available plain radiographs showed some loss of radiodensity. Further bone marrow edema developed in bones of the same foot that were initially normal, or in uninvolved distant bone marrow areas in the same affected bone, in six of seven patients on follow-up MR imaging. The evolution of the MR findings of BMES of the foot is to complete resolution or partial improvement at 1 year in the majority of cases. Migration to the other foot occurs in up to a quarter of patients. (orig.)

  20. Treatment of Bone Marrow Failure Syndrome with Integrated Traditional and Western Medicine

    Institute of Scientific and Technical Information of China (English)

    MA Rou

    2007-01-01

    @@ Aplastic anemia (AA) and myelodysplastic syndrome (MDS) are both included in the bone marrow failure syndromes (BMFS). AA is a group of diseases characterized by hematopoietic stem/progenitor cell damage,peripheral blood cytopenia, and clinical manifestations including anemia, bleeding and infection, which eventually lead to bone marrow failure.The incidence rate of AA in China is 7.4/106, higher than that in Western countries, among which the morbidity of acute AA and chronic AA (CAA) is 1.4/106 and 6.0/106,respectively.

  1. Bone geometry, volumetric density, microarchitecture, and estimated bone strength assessed by HR-pQCT in Klinefelter syndrome.

    Science.gov (United States)

    Shanbhogue, Vikram V; Hansen, Stinus; Jørgensen, Niklas Rye; Brixen, Kim; Gravholt, Claus H

    2014-11-01

    Although the expected skeletal manifestations of testosterone deficiency in Klinefelter's syndrome (KS) are osteopenia and osteoporosis, the structural basis for this is unclear. The aim of this study was to assess bone geometry, volumetric bone mineral density (vBMD), microarchitecture, and estimated bone strength using high-resolution peripheral quantitative computed tomography (HR-pQCT) in patients with KS. Thirty-one patients with KS confirmed by lymphocyte chromosome karyotyping aged 35.8 ± 8.2 years were recruited consecutively from a KS outpatient clinic and matched with respect to age and height with 31 healthy subjects aged 35.9 ± 8.2 years. Dual-energy X-ray absorptiometry (DXA) and HR-pQCT were performed in all participants, and blood samples were analyzed for hormonal status and bone biomarkers in KS patients. Twenty-one KS patients were on long-term testosterone-replacement therapy. In weight-adjusted models, HR-pQCT revealed a significantly lower cortical area (p < 0.01), total and trabecular vBMD (p = 0.02 and p = 0.04), trabecular bone volume fraction (p = 0.04), trabecular number (p = 0.05), and estimates of bone strength, whereas trabecular spacing was higher (p = 0.03) at the tibia in KS patients. In addition, cortical thickness was significantly reduced, both at the radius and tibia (both p < 0.01). There were no significant differences in indices of bone structure, estimated bone strength, or bone biomarkers in KS patients with and without testosterone therapy. This study showed that KS patients had lower total vBMD and a compromised trabecular compartment with a reduced trabecular density and bone volume fraction at the tibia. The compromised trabecular network integrity attributable to a lower trabecular number with relative preservation of trabecular thickness is similar to the picture found in women with aging. KS patients also displayed a reduced cortical area and thickness at the tibia, which in

  2. Pomegranate extract improves a depressive state and bone properties in menopausal syndrome model ovariectomized mice.

    Science.gov (United States)

    Mori-Okamoto, Junko; Otawara-Hamamoto, Yoko; Yamato, Hideyuki; Yoshimura, Hiroyuki

    2004-05-01

    Pomegranate is known to contain estrogens (estradiol, estrone, and estriol) and show estrogenic activities in mice. In this study, we investigated whether pomegranate extract is effective on experimental menopausal syndrome in ovariectomized mice. Prolongation of the immobility time in forced swimming test, an index of depression, was measured 14 days after ovariectomy. The bone mineral density (BMD) of the tibia was measured by X-ray absorptiometry and the structure and metabolism of bone were also analyzed by bone histomorphometry. Administration of pomegranate extract (juice and seed extract) for 2 weeks to ovariectomized mice prevented the loss of uterus weight and shortened the immobility time compared with 5% glucose-dosed mice (control). In addition, ovariectomy-induced decrease of BMD was normalized by administration of the pomegranate extract. The bone volume and the trabecular number were significantly increased and the trabecular separation was decreased in the pomegranate-dosed group compared with the control group. Some histological bone formation/resorption parameters were significantly increased by ovariectomy but were normalized by administration of the pomegranate extract. These changes suggest that the pomegranate extract inhibits ovariectomy-stimulated bone turnover. It is thus conceivable that pomegranate is clinically effective on a depressive state and bone loss in menopausal syndrome in women.

  3. Recommendations on hematopoietic stem cell transplantation for inherited bone marrow failure syndromes

    NARCIS (Netherlands)

    de Latour, R. Peffault; Peters, C.; Gibsons, B.; Strahm, B.; Lankester, A.; de Heredia, C. D.; Longoni, D.; Fioredda, F.; Locatelli, F.; Yaniv, I.; Wachowiak, J.; Donadieu, J.; Lawitschka, A.; Bierings, M.; Wlodarski, M.; Corbacioglu, S.; Bonanomi, S.; Samarasinghe, S.; Leblanc, T.; Dufour, C.; Dalle, J-H

    2015-01-01

    Allogeneic hematopoietic stem cell transplantation (HSCT) offers the potential to cure patients with an inherited bone marrow failure syndrome (IBMFS). However, the procedure involves the risk of treatment-related mortality and may be associated with significant early and late morbidity. For these r

  4. Bone Mineral Density in Adults With Down Syndrome, Intellectual Disability, and Nondisabled Adults

    Science.gov (United States)

    Geijer, Justin R.; Stanish, Heidi I.; Draheim, Christopher C.; Dengel, Donald R.

    2014-01-01

    Individuals with intellectual disability (ID) or Down syndrome (DS) may be at greater risk of osteoporosis. The purpose of this study was to compare bone mineral density (BMD) of DS, ID, and non-intellectually disabled (NID) populations. In each group, 33 participants between the ages of 28 and 60 years were compared. BMD was measured with…

  5. Predictors of bone mineral density in patients with Sheehan′s syndrome

    Directory of Open Access Journals (Sweden)

    Ramesh Gomez

    2012-01-01

    Full Text Available Sheehan′s syndrome is a leading cause of panhypopituitarism.It is associated with osdteoporosis due to a number of factors like gonadal and growth hormone deficiency; and other factors.In our study, 58 % of patients had osteopenia and 37% had osteoporosis at lumbar spine. Duration of illness had a significant inverse relationship with bone mineral density.

  6. Bone Tissue in Down Syndrome Patients Deteriorates Following Aging: A Study Based on Bone Ultrasound Analysis

    Directory of Open Access Journals (Sweden)

    Mirela Gavris

    2014-03-01

    Conclusion: This study showed that BUA is sufficiently sensitive to highlight the bone degradation that occurs at the end of adolescence and in adulthood in individuals with DS. In addition, BUA and stabilometric performances were able to distinguish DS patients from controls in the two older age groups, indicating that bone tissue and postural control of DS patients deteriorate with aging.

  7. Bone Metabolism of Children with Idiopathic Nephrotic Syndrome

    OpenAIRE

    渡辺, 繁子; Watanabe, Shigeko

    1986-01-01

    Children with nephrotic syndrome are frequently at risk for osteodystrophy due to secondary hyperparathyroidism. Severe proteinuria is accompanied by loss of 25-OH-Vit. D3, which causes hyperparathyroidism following hypocalcemia. On the other hand, administred glucocorticoid suppresses protein synthesis in osteoblasts to cause osteoporosis, and disturbs absorption of calcium in the intestine, which also leads to hyperparathyroidism. In this study 66 children with nephrotic syndrome were exami...

  8. Bone marrow failure syndromes and refractory cytopenia of childhood

    NARCIS (Netherlands)

    A.M. Aalbers (Anna Maartje)

    2014-01-01

    markdownabstract__Abstract__ Hematopoiesis, or blood cell production, is sustained through hematopoietic stem cells, which are self-renewing cells that reside in the bone marrow, and that are capable of producing daughter cells that proliferate and mature to provide all adult blood effector cells,

  9. Bone morphogenetic proteins and the polycystic ovary syndrome

    NARCIS (Netherlands)

    E.L.A.F. van Houten (Leonie); J.S.E. Laven (Joop); Y.V. Louwers (Yvonne); A. McLuskey; A.P.N. Themmen (Axel); J.A. Visser (Jenny)

    2013-01-01

    textabstractBackground: Polycystic Ovary Syndrome (PCOS) is defined by two out of the following three criteria being met: oligo- or anovulation, hyperandrogenism, and polycystic ovaries. Affected women are often obese and insulin resistant. Although the etiology is still unknown, members of the Tran

  10. Occipital condyle syndrome secondary to bone metastases from rectal cancer.

    Science.gov (United States)

    Marruecos, J; Conill, C; Valduvieco, I; Vargas, M; Berenguer, J; Maurel, J

    2008-01-01

    Skull-base metastases are very unfrequent. Occipital condyle syndrome (OCS) is usually underdiagnosed. Until now few cases have been reported in the literature. We present a 71-year-old woman with metastatic rectum adenocarcinoma, with right occipital headache and ipsilateral hypoglossal palsy, diagnosed by computed tomography and magnetic resonance imaging of OCS due to a skull-base metastasis and treated with radiation therapy.

  11. Hungry Horse Dam Fisheries Mitigation, 1992-1993 Progress Report.

    Energy Technology Data Exchange (ETDEWEB)

    DosSantos, Joe; Vashro, Jim; Lockard, Larry

    1994-06-01

    In February of 1900, over forty agency representatives and interested citizens began development of the 1991 Mitigation Plan. This effort culminated in the 1993 Implementation Plan for mitigation of fish losses attributable to the construction and operation of Hungry Horse Dam. The primary purpose of this biennial report is to inform the public of the status of ongoing mitigation activities resulting from those planning efforts. A habitat improvement project is underway to benefit bull trout in Big Creek in the North Fork drainage of the Flathead River and work is planned in Hay Creek, another North Fork tributary. Bull trout redd counts have been expanded and experimental programs involving genetic evaluation, outmigrant monitoring, and hatchery studies have been initiated, Cutthroat mitigation efforts have focused on habitat improvements in Elliott Creek and Taylor`s Outflow and improvements have been followed by imprint plants of hatchery fish and/or eyed eggs in those streams. Rogers Lake west of Kalispell and Lion Lake, near Hungry Horse, were chemically rehabilitated. Cool and warm water fish habitat has been improved in Halfmoon Lake and Echo Lake. Public education and public interest is important to the future success of mitigation activities. As part of the mitigation team`s public awareness responsibility we have worked with numerous volunteer groups, public agencies, and private landowners to stimulate interest and awareness of mitigation activities and the aquatic ecosystem. The purpose of this biennial report is to foster public awareness of, and support for, mitigation activities as we move forward in implementing the Hungry Horse Dam Fisheries Mitigation Implementation Plan.

  12. Posterior Reversible Encephalopathy Syndrome in a Bone Marrow Transplant Patient: A Complication of Immunosuppressive Drugs?

    Science.gov (United States)

    Hossain, Mohammad A; Jehangir, Waqas; Nai, Qiang; Jessani, Naureen; Khan, Rafay; Yousif, Abdalla; Sen, Shuvendu

    2015-08-01

    Posterior reversible encephalopathy is a complex but well-recognized clinical and radiological entity associated with a variety of benign and malignant conditions including hypertensive encephalopathy, eclampsia, renal failure and immunosuppressive drugs. The pathogenesis is incompletely understood, although it seems to be related to the breakthrough of auto-regulation and endothelial dysfunction. The clinical syndromes typically involve headache, altered mental status, seizures, visual disturbance and other focal neurological signs and radiographically reversible vasogenic subcortical edema without infarction. Here, we report a case of posterior reversible encephalopathy syndrome in a patient with chronic myeloid leukemia who received allogenic bone marrow transplantation (allo-BMT) and immunosuppressive drugs.

  13. Osteoblast function and bone histomorphometry in a murine model of Rett syndrome.

    Science.gov (United States)

    Blue, Mary E; Boskey, Adele L; Doty, Stephen B; Fedarko, Neal S; Hossain, Mir Ahamed; Shapiro, Jay R

    2015-07-01

    Rett syndrome (RTT) is an X-linked neurodevelopmental disorder due to mutations affecting the neural transcription factor MeCP2. Approximately 50% of affected females have decreased bone mass. We studied osteoblast function using a murine model of RTT. Female heterozygote (HET) and male Mecp2-null mice were compared to wild type (WT) mice. Micro-CT of tibia from 5 week-old Mecp2-null mice showed significant alterations in trabecular bone including reductions in bone volume fraction (-29%), number (-19%), thickness (-9%) and connectivity density (-32%), and increases in trabecular separation (+28%) compared to WT. We also found significant reductions in cortical bone thickness (-18%) and in polar moment of inertia (-45%). In contrast, cortical and trabecular bone from 8 week-old WT and HET female mice were not significantly different. However, mineral apposition rate, mineralizing surface and bone formation rate/bone surface were each decreased in HET and Mecp2-null mice compared to WT mice. Histomorphometric analysis of femurs showed decreased numbers of osteoblasts but similar numbers of osteoclasts compared to WT, altered osteoblast morphology and decreased tissue synthesis of alkaline phosphatase in Mecp2-null and HET mice. Osteoblasts cultured from Mecp2-null mice, which unlike WT osteoblasts did not express MeCP2, had increased growth rates, but reductions in mRNA expression of type I collagen, Runx2 and Osterix compared to WT osteoblasts. These results indicate that MeCP2 deficiency leads to altered bone growth. Osteoblast dysfunction was more marked in Mecp2-null male than in HET female mice, suggesting that expression of MeCP2 plays a critical role in bone development.

  14. Muscle and Bone Impairment in Children With Marfan Syndrome: Correlation With Age and FBN1 Genotype.

    Science.gov (United States)

    Haine, Elsa; Salles, Jean-Pierre; Khau Van Kien, Philippe; Conte-Auriol, Françoise; Gennero, Isabelle; Plancke, Aurélie; Julia, Sophie; Dulac, Yves; Tauber, Maithé; Edouard, Thomas

    2015-08-01

    Marfan syndrome (MFS) is a rare connective tissue disorder caused by mutation in the gene encoding the extracellular matrix protein fibrillin-1 (FBN1), leading to transforming growth factor-beta (TGF-β) signaling dysregulation. Although decreased axial and peripheral bone mineral density (BMD) has been reported in adults with MFS, data about the evolution of bone mass during childhood and adolescence are limited. The aim of the present study was to evaluate bone and muscle characteristics in children, adolescents, and young adults with MFS. The study population included 48 children and young adults (22 girls) with MFS with a median age of 11.9 years (range 5.3 to 25.2 years). The axial skeleton was analyzed at the lumbar spine using dual-energy X-ray absorptiometry (DXA), whereas the appendicular skeleton (hand) was evaluated using the BoneXpert system (with the calculation of the Bone Health Index). Muscle mass was measured by DXA. Compared with healthy age-matched controls, bone mass at the axial and appendicular levels and muscle mass were decreased in children with MFS and worsened from childhood to adulthood. Vitamin D deficiency (<50 nmol/L) was found in about a quarter of patients. Serum vitamin D levels were negatively correlated with age and positively correlated with lumbar spine areal and volumetric BMD. Lean body mass (LBM) Z-scores were positively associated with total body bone mineral content (TB-BMC) Z-scores, and LBM was an independent predictor of TB-BMC values, suggesting that muscle hypoplasia could explain at least in part the bone loss in MFS. Patients with a FBN1 premature termination codon mutation had a more severe musculoskeletal phenotype than patients with an inframe mutation, suggesting the involvement of TGF-β signaling dysregulation in the pathophysiologic mechanisms. In light of these results, we recommend that measurement of bone mineral status should be part of the longitudinal clinical investigation of MFS children.

  15. FAT EMBOLISM SYNDROME WITHOUT OBJECTIVE EVIDENCE OF BONE OR SOFT TISSUE INJURY

    Directory of Open Access Journals (Sweden)

    Amitabh Das

    2014-10-01

    Full Text Available Fat embolism syndrome (FES, without evidence of bone or soft tissue injury is uncommon, and in absence of validated diagnostic criteria, its diagnosis is mainly dependent on treating clinician, who should have high index of suspicion. Treatment is predominantly supportive, and apart from some mortality, recovery is generally seen. Present article is a case report of a boy who suffered blunt injury due to fall from height, had no objective evidence of bone or soft tissue injury, but diagnosed as a case of fat embolism syndrome, using Gurd-Wilson and Schonfeld’s criteria, treated by pulmonary support and aggressive resuscitation, but he died after 4 days of admission to hospital.

  16. Microbe-Induced Inflammatory Signals Triggering Acquired Bone Marrow Failure Syndromes

    Science.gov (United States)

    Espinoza, J. Luis; Kotecha, Ritesh; Nakao, Shinji

    2017-01-01

    Acquired bone marrow failure syndromes encompass a unique set of disorders characterized by a reduction in the effective production of mature cells by the bone marrow (BM). In the majority of cases, these syndromes are the result of the immune-mediated destruction of hematopoietic stem cells or their progenitors at various stages of differentiation. Microbial infection has also been associated with hematopoietic stem cell injury and may lead to associated transient or persistent BM failure, and recent evidence has highlighted the potential impact of commensal microbes and their metabolites on hematopoiesis. We summarize the interactions between microorganisms and the host immune system and emphasize how they may impact the development of acquired BM failure. PMID:28286502

  17. Small carpal bone surface area, a characteristic of Turner's syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Cleveland, R.H.; Done, S.; Correia, J.A.; Crawford, J.D.; Kushner, D.C.; Herman, T.E.

    1985-02-01

    An abnormality which has received little attention but may be easily recognized on radiographs of the hand of patients with Turner's syndrome is described. Eleven of thirty-one patients (35.5%) with Turner's syndrome were shown on radiographs of the hand to have a visually detectable smallness of the bone surface area of the carpus when compared to the area of the second through fifth metacarpals. Values for the ''C/M'' ratio (the area of the carpals divided by the area of the second through fifth metacarpals) were calculated for films of 31 individuals with gonadal dysgenesis and compared with those from bone age-matched films of seventy-six individuals with normal development of the hand and wrist. A consistent difference with minimal overlap was documented.

  18. Migrating transient bone marrow edema syndrome of the knee: MRI findings in a new case

    Energy Technology Data Exchange (ETDEWEB)

    Gaeta, Michele; Mazziotti, Silvio; Minutoli, Fabio; Vinci, Sergio; Blandino, Alfredo [Institute of Radiological Sciences, Policlinico ' ' G. Martino' ' , University of Messina, Via Consolare Valeria, Gazzi, 98100 Messina (Italy)

    2002-07-01

    We report a case of transient bone marrow edema syndrome migrating within two different compartments of the same knee. This unusual pattern of migration of the marrow edema, which has been previously described only in three cases of transient osteoporosis, may raise the suspicion of an aggressive disease. Radiologists should be aware of this phenomenon in order to avoid an aggressive management of this self-limiting disease. (orig.)

  19. Syringomyelia in mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome): imaging findings following bone marrow transplantation

    Energy Technology Data Exchange (ETDEWEB)

    Hite, S.H. [Department of Radiology, Box 292, University of Minnesota Hospital and Clinic, 420 Delaware Street SE, Minneapolis, MN 55455 (United States); Krivit, W. [Department of Pediatrics and Institute for Human Genetics, University of Minnesota Hospital and Clinic, Minneapolis, MN (United States); Haines, S.J. [Department of Neurological Surgery, University of Minnesota Hospital and Clinic, Minneapolis, MN (United States); Whitley, C.B. [Department of Pediatrics and Institute for Human Genetics, University of Minnesota Hospital and Clinic, Minneapolis, MN (United States)

    1997-09-01

    We present the imaging findings in a patient with mucopolysaccharidosis (MPS) type VI (Maroteaux-Lamy syndrome) who developed holocord syringomyelia. This represents the only reported case of syrinx formation in a child with MPS VI. Clinical, neurologic and spinal magnetic resonance imaging findings are presented. The patient has maintained a stable clinical and neurologic course over the period following allogeneic bone marrow transplant. (orig.). With 3 figs.

  20. The Association between Metabolic Syndrome, Bone Mineral Density, Hip Bone Geometry and Fracture Risk: The Rotterdam Study.

    Directory of Open Access Journals (Sweden)

    Taulant Muka

    Full Text Available The association between metabolic syndrome (MS and bone health remains unclear. We aimed to study the association between MS and hip bone geometry (HBG, femoral neck bone mineral density (FN-BMD, and the risk of osteoporosis and incident fractures. Data of 2040 women and 1510 men participants in the third visit (1997-1999 of the Rotterdam Study (RSI-3, a prospective population based cohort, were available (mean follow-up 6.7 years. MS was defined according to the recent harmonized definition. HBG parameters were measured at the third round visit whereas FN-BMD was assessed at the third round and 5 years later. Incident fractures were identified from medical registry data. After correcting for age, body mass index (BMI, lifestyle factors and medication use, individuals with MS had lower bone width (β = -0.054, P = 0.003, lower cortical buckling ratio (β = -0.81, P = 0.003 and lower odds of having osteoporosis (odds ratio =0.56, P = 0.007 in women but not in men. Similarly, MS was associated with higher FN-BMD only in women (β = 0.028, P=0.001. In the analyses of MS components, the glucose component (unrelated to diabetes status was positively associated with FN-BMD in both genders (β = 0.016, P = 0.01 for women and β = 0.022, P = 0.004 for men. In men, waist circumference was inversely associated with FN-BMD (β = -0.03, P = 0.004. No association was observed with fracture risk in either sex. In conclusion, women with MS had higher FN-BMD independent of BMI. The glucose component of MS was associated with high FN-BMD in both genders, highlighting the need to preserve glycemic control to prevent skeletal complications.

  1. The Association between Metabolic Syndrome, Bone Mineral Density, Hip Bone Geometry and Fracture Risk: The Rotterdam Study

    Science.gov (United States)

    Muka, Taulant; Trajanoska, Katerina; Kiefte-de Jong, Jessica C.; Oei, Ling; Uitterlinden, André G; Hofman, Albert; Dehghan, Abbas; Zillikens, M. Carola; Franco, Oscar H.; Rivadeneira, Fernando

    2015-01-01

    The association between metabolic syndrome (MS) and bone health remains unclear. We aimed to study the association between MS and hip bone geometry (HBG), femoral neck bone mineral density (FN-BMD), and the risk of osteoporosis and incident fractures. Data of 2040 women and 1510 men participants in the third visit (1997–1999) of the Rotterdam Study (RSI-3), a prospective population based cohort, were available (mean follow-up 6.7 years). MS was defined according to the recent harmonized definition. HBG parameters were measured at the third round visit whereas FN-BMD was assessed at the third round and 5 years later. Incident fractures were identified from medical registry data. After correcting for age, body mass index (BMI), lifestyle factors and medication use, individuals with MS had lower bone width (β = -0.054, P = 0.003), lower cortical buckling ratio (β = -0.81, P = 0.003) and lower odds of having osteoporosis (odds ratio =0.56, P = 0.007) in women but not in men. Similarly, MS was associated with higher FN-BMD only in women (β = 0.028, P=0.001). In the analyses of MS components, the glucose component (unrelated to diabetes status) was positively associated with FN-BMD in both genders (β = 0.016, P = 0.01 for women and β = 0.022, P = 0.004 for men). In men, waist circumference was inversely associated with FN-BMD (β = -0.03, P = 0.004). No association was observed with fracture risk in either sex. In conclusion, women with MS had higher FN-BMD independent of BMI. The glucose component of MS was associated with high FN-BMD in both genders, highlighting the need to preserve glycemic control to prevent skeletal complications. PMID:26066649

  2. Dosage of estradiol, bone and body composition in Turner syndrome: a 5-year randomized controlled clinical trial

    DEFF Research Database (Denmark)

    Cleemann, Line; Holm, Kirsten; Kobbernagel, Hanne

    2017-01-01

    OBJECTIVE: Reduced bone mineral density (BMD) is seen in Turner syndrome (TS) with an increased risk of fractures, and body composition is characterized by increased body fat and decreased lean body mass. To evaluate the effect of two different doses of oral 17ß-estradiol in young TS women on bone...

  3. Bone Cement Implantation Syndrome in the Perioperative Period of Large Joint Endoprosthesis

    Directory of Open Access Journals (Sweden)

    I. A. Tomashevsky

    2007-01-01

    Full Text Available Objective: to enhance the efficiency of diagnosis of and intensive therapy for bone cement implantation syndrome in the perioperative period of endoprosthesis of large joints of the lower extremity.Subjects and methods: A study group comprised 18 patients who received standard perioperative intensive therapy for the bone cement implantation syndrome. A control group included 22 patients in whom perioperative correction of hemostatic disorders was made, by including 6% solution into the infusion program of second-generation hydroxyethyl starches (200/0.5 and by postoperatively administering low molecular-weight heparins. To evaluate the state of the basic hemostatic links, the classical laboratory parameters were determined, as described by Z. S. Barkagan, et al. Concurrent with the determination of the classical parameters, an integral estimate was made by rapid blood viscosimetry.Results. Impairments of basic hemostatic links in the bone cement implantation syndrome are characterized by the development of prethrombosis. Rapid blood viscometric parameters, such as the rate of spontaneous platelet aggregation, the onset of clotting, the constants of thrombin, blood clotting, total blood clotting, a fibrin-platelet constant, and the cumulative rate of clot retraction and lysis, correlate with classical biochemical parameters.Conclusion. The pathogenetically warranted use of a combination of low molecular-weight heparin and second-generation hydrox-yethyl starch enhances the efficiency of correction of perioperative impairments of the basic hemostatic links in the cement endoprosthetic replacement of large joints of the lower extremity. 

  4. Differentiating giant cell tumor of bone from patellofemoral syndrome: a case study.

    Science.gov (United States)

    Bonar, Jason; Carr, Shannon Clutton; De Carvalho, Diana; Wunder, Jay S

    2016-03-01

    Balancing the assessment of musculoskeletal dysfunctions with a high level of suspicion for non-mechanical origins can be a challenge for the clinician examining a sports injury. Without timely diagnosis, non-mechanical complaints could result in surgery or loss of limb. This case describes the discovery of a Giant Cell Tumor of Bone (GCTB) following the re-evaluation of an athlete who had undergone five years of conservative management for patellofemoral pain syndrome (PFPS). Knee injuries account for 32.6% of sports injuries with PFPS being the most common and most likely diagnosis for anterior knee pain. GCTB is a benign aggressive bone tumor with a predilection for the juxta-articular region of the knee, comprising up to 23% of all benign bone tumors, and commonly occurs in the second to fourth decades. This case report illustrates the difficulty in accurately diagnosing healthy athletes, reviews common differentials for knee complaints and explores helpful diagnostic procedures.

  5. Associations of dietary calcium intake with metabolic syndrome and bone mineral density among the Korean population: KNHANES 2008-2011.

    Science.gov (United States)

    Kim, M K; Chon, S J; Noe, E B; Roh, Y H; Yun, B H; Cho, S; Choi, Y S; Lee, B S; Seo, S K

    2017-01-01

    Excessive amount of calcium intake increased risk for metabolic syndrome in men. However, modest amount decreased the risk of metabolic syndrome and osteoporosis in postmenopausal women. Modest amount of calcium also increased bone mineral density (BMD) in both men and postmenopausal women.

  6. Hungry Horse Mitigation; Flathead Lake, 2001-2002 Annual Report.

    Energy Technology Data Exchange (ETDEWEB)

    Hansen, Barry (Confederated Salish and Kootenai Tribes of the Flathead Nation, Pablo, MT)

    2003-06-09

    The Confederated Salish and Kootenai Tribes (CSKT) and Montana Fish Wildlife and Parks (MFWP) wrote ''Fisheries Mitigation Plan for Losses Attributable to the Construction and Operation of Hungry Horse Dam'' in March 1991 to define the fisheries losses, mitigation alternatives and recommendations to protect, mitigate and enhance resident fish and aquatic habitat affected by Hungry Horse Dam. On November 12, 1991, the Northwest Power Planning Council (NPPC) approved the mitigation plan with minor modifications, called for a detailed implementation plan, and amended measures 903(h)(1) through (7). A long-term mitigation plan was submitted in August 1992, was approved by the Council in 1993, and the first contract for this project was signed on November 11, 1993. The problem this project addresses is the loss of habitat, both in quality and quantity, in the interconnected Flathead Lake and River basin resulting from the construction and operation of Hungry Horse Dam. The purpose of the project is to both implement mitigation measures and monitor the biological responses to those measures including those implemented by Project Numbers 9101903 and 9101904. Goals and objectives of the 1994 Fish and Wildlife Program (Section 10.1) addressed by this project are the rebuilding to sustainable levels weak, but recoverable, native populations injured by the hydropower system. The project mitigates the blockage of spawning runs by Hungry Horse Dam by restoring and even creating spawning habitats within direct drainages to Flathead Lake. The project also addresses the altered habitat within Flathead Lake resulting from species shifts and consequent dominance of new species that restricts the potential success of mitigation measures. Specific goals of this project are to create and restore habitat and quantitatively monitor changes in fish populations to verify the efficacy of our mitigation measures. The project consists of three components: monitoring

  7. Hungry Horse Mitigation; Flathead Lake, 2003-2004 Annual Report.

    Energy Technology Data Exchange (ETDEWEB)

    Hansen, Barry; Evarts, Les (Confederated Salish and Kootenai Tribes of the Flathead Nation, Pablo, MT)

    2005-06-01

    The Confederated Salish and Kootenai Tribes (CSKT) and Montana Fish Wildlife and Parks (MFWP) wrote the ''Fisheries Mitigation Plan for Losses Attributable to the Construction and Operation of Hungry Horse Dam'' in March 1991 to define the fisheries losses, mitigation alternatives and recommendations to protect, mitigate and enhance resident fish and aquatic habitat affected by Hungry Horse Dam. On November 12, 1991, the Northwest Power Planning Council (NPPC) approved the mitigation plan with minor modifications, called for a detailed implementation plan, and amended measures 903(h)(1) through (7). A long-term mitigation plan was submitted in August 1992, was approved by the Council in 1993, and the first contract for this project was signed on November 11, 1993. The problem this project addresses is the loss of habitat, both in quality and quantity, in the Flathead Lake and River basin resulting from the construction and operation of Hungry Horse Dam. The purpose of the project is to both implement mitigation measures and monitor the biological responses to those measures including those implemented by Project Numbers 9101903 and 9101904. Goals and objectives of the 1994 Fish and Wildlife Program (Section 10.1) addressed by this project are the rebuilding to sustainable levels weak, but recoverable, native populations injured by the hydropower system. The project mitigates the blockage of spawning runs by Hungry Horse Dam by restoring and even creating spawning habitats within direct drainages to Flathead Lake. The project also addresses the altered habitat within Flathead Lake resulting from species shifts and consequent dominance of new species that restricts the potential success of mitigation measures. Specific goals of this project are to create and restore habitat and quantitatively monitor changes in fish populations to verify the efficacy of our mitigation measures. The project consists of three components: monitoring, restoration and

  8. Hungry Horse Mitigation; Flathead Lake, 2004-2005 Annual Report.

    Energy Technology Data Exchange (ETDEWEB)

    Hansen, Barry; Evarts, Les (Confederated Salish and Kootenai Tribes of the Flathead Nation, Pablo, MT)

    2006-06-01

    The Confederated Salish and Kootenai Tribes (CSKT) and Montana Fish Wildlife and Parks (MFWP) wrote the ''Fisheries Mitigation Plan for Losses Attributable to the Construction and Operation of Hungry Horse Dam'' in March 1991 to define the fisheries losses, mitigation alternatives and recommendations to protect, mitigate and enhance resident fish and aquatic habitat affected by Hungry Horse Dam. On November 12, 1991, the Northwest Power Planning Council (NPPC) approved the mitigation plan with minor modifications, called for a detailed implementation plan, and amended measures 903(h)(1) through (7). A long-term mitigation plan was submitted in August 1992, was approved by the Council in 1993, and the first contract for this project was signed on November 11, 1993. The problem this project addresses is the loss of habitat, both in quality and quantity, in the Flathead Lake and River basin resulting from the construction and operation of Hungry Horse Dam. The purpose of the project is to both implement mitigation measures and monitor the biological responses to those measures including those implemented by Project Numbers 9101903 and 9101904. Goals and objectives of the 1994 Fish and Wildlife Program (Section 10.1) addressed by this project are the rebuilding to sustainable levels weak, but recoverable, native populations injured by the hydropower system. The project mitigates the blockage of spawning runs by Hungry Horse Dam by restoring and even creating spawning habitats within direct drainages to Flathead Lake. The project also addresses the altered habitat within Flathead Lake resulting from species shifts and consequent dominance of new species that restricts the potential success of mitigation measures. Specific goals of this project are to create and restore habitat and quantitatively monitor changes in fish populations to verify the efficacy of our mitigation measures. The project consists of three components: monitoring, restoration and

  9. Hungry Horse Mitigation : Flathead Lake : Annual Progress Report 2007.

    Energy Technology Data Exchange (ETDEWEB)

    Hansen, Barry; Evarts, Les [Confederated Salish and Kootenai Tribes

    2008-12-22

    The Confederated Salish and Kootenai Tribes (CSKT) and Montana Fish Wildlife and Parks (MFWP) wrote the 'Fisheries Mitigation Plan for Losses Attributable to the Construction and Operation of Hungry Horse Dam' in March 1991 to define the fisheries losses, mitigation alternatives and recommendations to protect, mitigate and enhance resident fish and aquatic habitat affected by Hungry Horse Dam. On November 12, 1991, the Northwest Power Planning Council (NPPC) approved the mitigation plan with minor modifications, called for a detailed implementation plan, and amended measures 903(h)(1) through (7). A long-term mitigation plan was submitted in August 1992, was approved by the Council in 1993, and the first contract for this project was signed on November 11, 1993. The problem this project addresses is the loss of habitat, both in quality and quantity, in the Flathead Lake and River basin resulting from the construction and operation of Hungry Horse Dam. The purpose of the project is to both implement mitigation measures and monitor the biological responses to those measures including those implemented by Project Numbers 9101903 and 9101904. Goals and objectives of the 1994 Fish and Wildlife Program (Section 10.1) addressed by this project are the rebuilding to sustainable levels weak, but recoverable, native populations injured by the hydropower system. The project mitigates the blockage of spawning runs by Hungry Horse Dam by restoring and even creating spawning habitats within direct drainages to Flathead Lake. The project also addresses the altered habitat within Flathead Lake resulting from species shifts and consequent dominance of new species that restricts the potential success of mitigation measures. Specific goals of this project are to create and restore habitat and quantitatively monitor changes in fish populations to verify the efficacy of our mitigation measures. The project consists of three components: monitoring, restoration and research

  10. Hungry Horse Mitigation : Flathead Lake : Annual Progress Report 2008.

    Energy Technology Data Exchange (ETDEWEB)

    Hansen, Barry; Evarts, Les [Confederated Salish and Kootenai Tribes

    2009-08-06

    The Confederated Salish and Kootenai Tribes (CSKT) and Montana Fish Wildlife and Parks (MFWP) wrote the 'Fisheries Mitigation Plan for Losses Attributable to the Construction and Operation of Hungry Horse Dam' in March 1991 to define the fisheries losses, mitigation alternatives and recommendations to protect, mitigate and enhance resident fish and aquatic habitat affected by Hungry Horse Dam. On November 12, 1991, the Northwest Power Planning Council (NPPC) approved the mitigation plan with minor modifications, called for a detailed implementation plan, and amended measures 903(h)(1) through (7). A long-term mitigation plan was submitted in August 1992, was approved by the Council in 1993, and the first contract for this project was signed on November 11, 1993. The problem this project addresses is the loss of habitat, both in quality and quantity, in the Flathead Lake and River basin resulting from the construction and operation of Hungry Horse Dam. The purpose of the project is to both implement mitigation measures and monitor the biological responses to those measures including those implemented by Project Numbers 9101903 and 9101904. Goals and objectives of the 1994 Fish and Wildlife Program (Section 10.1) addressed by this project are the rebuilding to sustainable levels weak, but recoverable, native populations injured by the hydropower system. The project mitigates the blockage of spawning runs by Hungry Horse Dam by restoring and even creating spawning habitats within direct drainages to Flathead Lake. The project also addresses the altered habitat within Flathead Lake resulting from species shifts and consequent dominance of new species that restricts the potential success of mitigation measures. Specific goals of this project are to create and restore habitat and quantitatively monitor changes in fish populations to verify the efficacy of our mitigation measures. The project consists of three components: monitoring, restoration and research

  11. Acute Cavernous Sinus Syndrome from Metastasis of Lung Cancer to Sphenoid Bone

    Directory of Open Access Journals (Sweden)

    Marianna Zelenak

    2012-01-01

    Full Text Available Cavernous sinus syndrome is a rare entity in oncology reported only in occasional case reports. Optimal therapy is thus poorly defined with rapidly progressive disease dominating the picture. Management includes prompt diagnosis, attempts at stabilization of cranial nerve function, and aggressive control of central pain syndrome. Here, we report cavernous sinus syndrome secondary to the original squamous cell carcinoma of the lung. With common presenting causes of this syndrome being infection, thrombosis or tumor, it might seem that metastatic tumor would be expected in a patient with a cancer diagnosis. What was not so expected was the extremely rapid progression from mild headache and mild trigeminal neuralgia with negative-contrast head CT to a massive, destructive lesion involving several skull bones and skull base, only 3 weeks later. In addition, the patient was severely immunosuppressed at the completion of induction chemotherapy. Infectious processes, although unlikely, were considered, as aggressive cancer therapy (including high-dose steroids and radiation therapy had no impact on this disease. Despite accurate localization, the aggressive nature of this disease with massive bone destruction and dural thickening limited any chance of a durable control. We discuss the process of evaluation, diagnosis and treatment of symptoms and the importance of a team approach to best palliate these unfortunate patients.

  12. Allogeneic hematopoietic stem cell transplantation for inherited bone marrow failure syndromes.

    Science.gov (United States)

    Dalle, Jean-Hugues; Peffault de Latour, Régis

    2016-04-01

    Inherited bone marrow failure (IBMF) syndromes are a heterogeneous group of rare hematological disorders characterized by the impairment of hematopoiesis, which harbor specific clinical presentations and pathogenic mechanisms. Some of these syndromes may progress through clonal evolution, myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML). Most prominent are failures of DNA repair such as Fanconi Anemia and much rarer failure of ribosomal apparatus, e.g., Diamond Blackfan Anemia or of telomere elongation such as dyskeratosis congenita. In these congenital disorders, hematopoietic stem cell transplantation (HSCT) is often a consideration. However, HSCT will not correct the underlying disease and possible co-existing extra-medullary (multi)-organ defects, but will improve BMF. Indications as well as transplantation characteristics are most of the time controversial in this setting because of the rarity of reported cases. The present paper proposes a short overview of current practices.

  13. "When I go to bed hungry and sleep, I'm not hungry": Children and parents' experiences of food insecurity.

    Science.gov (United States)

    Harvey, Kate

    2016-04-01

    Evidence demonstrates food insecurity has a detrimental impact on a range of outcomes for children, but little research has been conducted in the UK, and children have rarely been asked to describe their experiences directly. We examined the experiences of food insecure families living in South London. Our mixed-methods approach comprised a survey of parents (n = 72) and one-to-one semi-structured interviews with children aged 5-11 years (n = 19). The majority of parents (86%) described their food security during the preceding year as very low. Most reported they had often or sometimes had insufficient food, and almost all had worried about running out of food. Two thirds of parents had gone hungry. Most parents reported they had been unable to afford a nutritionally balanced diet for their children, and just under half reported that their children had gone hungry. Four themes emerged from the interviews with children: sources of food; security of food, nutritional quality of food, and experiences of hunger. Children's descriptions of insufficient food being available indicate that parents are not always able to shield them from the impact of food insecurity. The lack of school-meals and after-school clubs serving food made weekends particularly problematic for some children. A notable consequence of food insecurity appears to be reliance on low-cost takeaway food, likely to be nutritionally poor.

  14. Bone marrow stromal cell transplantation mitigates radiation-induced gastrointestinal syndrome in mice.

    Directory of Open Access Journals (Sweden)

    Subhrajit Saha

    Full Text Available BACKGROUND: Nuclear accidents and terrorism presents a serious threat for mass casualty. While bone-marrow transplantation might mitigate hematopoietic syndrome, currently there are no approved medical countermeasures to alleviate radiation-induced gastrointestinal syndrome (RIGS, resulting from direct cytocidal effects on intestinal stem cells (ISC and crypt stromal cells. We examined whether bone marrow-derived adherent stromal cell transplantation (BMSCT could restitute irradiated intestinal stem cells niche and mitigate radiation-induced gastrointestinal syndrome. METHODOLOGY/PRINCIPAL FINDINGS: Autologous bone marrow was cultured in mesenchymal basal medium and adherent cells were harvested for transplantation to C57Bl6 mice, 24 and 72 hours after lethal whole body irradiation (10.4 Gy or abdominal irradiation (16-20 Gy in a single fraction. Mesenchymal, endothelial and myeloid population were characterized by flow cytometry. Intestinal crypt regeneration and absorptive function was assessed by histopathology and xylose absorption assay, respectively. In contrast to 100% mortality in irradiated controls, BMSCT mitigated RIGS and rescued mice from radiation lethality after 18 Gy of abdominal irradiation or 10.4 Gy whole body irradiation with 100% survival (p<0.0007 and p<0.0009 respectively beyond 25 days. Transplantation of enriched myeloid and non-myeloid fractions failed to improve survival. BMASCT induced ISC regeneration, restitution of the ISC niche and xylose absorption. Serum levels of intestinal radioprotective factors, such as, R-Spondin1, KGF, PDGF and FGF2, and anti-inflammatory cytokines were elevated, while inflammatory cytokines were down regulated. CONCLUSION/SIGNIFICANCE: Mitigation of lethal intestinal injury, following high doses of irradiation, can be achieved by intravenous transplantation of marrow-derived stromal cells, including mesenchymal, endothelial and macrophage cell population. BMASCT increases blood levels of

  15. The association between bone health indicated by calcaneal quantitative ultrasound and metabolic syndrome in Malaysian men.

    Science.gov (United States)

    Chin, Kok-Yong; Ima-Nirwana, Soelaiman; Mohamed, Isa Naina; Ahmad, Fairus; Mohd Ramli, Elvy Suhana; Aminuddin, Amilia; Wan Ngah, Wan Zurinah

    2015-01-01

    Previous studies on the relationship between bone health and metabolic syndrome (MS) have revealed heterogeneous results. There are limited studies employing bone quantitative ultrasonometry in evaluating this relationship. This study aimed to determine the relationship between MS and bone health in a group of Malaysian middle-aged and elderly men using bone quantitative ultrasonometry. This cross-sectional study recruited 309 free living Chinese and Malay men aged 40 years and above residing in Klang Valley, Malaysia. Their demographic and anthropometric data were collected. Their calcaneal speed of sound (SOS) was measured using a CM-200 bone ultrasonometer. Their blood was collected for the evaluation of lipid profile, total testosterone and sex hormone-binding globulin. The joint interim MS definition was used for the classification of subjects. Multiple linear regression analysis was used to assess the association between SOS and indicators of MS and the presence of MS, with suitable adjustment for confounders. There was no significant difference in SOS value between MS and non-MS subjects (p > 0.05). The SOS values among subjects with different MS scores did not differ significantly (p > 0.05). There were no significant associations between SOS values and indicators of MS or the presence of MS (p > 0.05). The relationship between bone health and MS is not significant in Malaysian middle-aged and elderly men. A longitudinal study should be conducted to evaluate the association between bone loss and MS to confirm this finding.

  16. Avascular necrosis of bone in severe acute respiratory syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Hong, N. E-mail: hongnan@bjmu.edu.cn; Du, X.K

    2004-07-01

    AIM: To report the incidence of avascular osteonecrosis (AVN) in severe acute respiratory syndrome (SARS) patients. MATERIALS AND METHODS: Sixty-seven SARS patients who had large joint pain between March 2003 and May 2003 underwent both plain radiographs and magnetic resonance imaging (MRI) examination on the same day. All patients received steroids and ribavirin treatment. All plain radiographs and MR images were analysed by two experienced musculoskeletal radiologists. Any abnormalities, location, extent, morphology, the number, size and signal intensity of lesions were evaluated. RESULTS: Twenty-eight patients were identified with AVN, The mean time to diagnosis of AVN was 119 days after the onset of SARS, or 116 days after steroid use. Three patients had early bilateral AVN of the femoral head, four patients of one femoral head, five patients of the bilateral hips and knees, four patients of the ipsilateral hip and knees, 10 patients of the knee(s), one patient of the right proximal fibula, and one patient of the knees and talus. Results of hip, knee and ankle plain radiographs were negative. CONCLUSION: AVN can occur in the patients with SARS. AVN had a strong association with steroid use. More studies are required to confirm whether the virus itself can also lead to AVN.

  17. Biochemical Assessment of Bone Health in Working Obese Egyptian Females with Metabolic Syndrome; the Effect of Weight Loss by Natural Dietary Therapies

    National Research Council Canada - National Science Library

    Moaty, Maha I A; Fouad, Suzanne; Shebini, Salwa M El; Kazem, Yusr I; Tapozada, Salwa T

    2015-01-01

    To investigate the relation between bone parameters and the metabolic syndrome criteria, before and after the administration of two different natural dietary supplements in middle aged working obese...

  18. Bilateral lung 99mTc-MDP uptake on the bone scintigraphy in the myelodysplastic syndromes (MDS).

    Science.gov (United States)

    Mogharrabi, Mehdi; Javadi, Hamid; Assadi, Majid

    2013-05-01

    We report a case of myelodysplastic syndrome (MDS) with unusual abnormal 99mTc-MDP activity throughout both lungs on whole-body bone scan. To explain the pancytopenia, bone marrow examination was carried out which showed hypocellularity in addition to large abnormal megakaryocytes indicating myelodysplastic changes. His whole-body bone scan showed increased 99mTc-MDP activity in both lungs, kidneys, and also along the proximal two thirds of the femora. It was concluded that lung uptake in addition to skeletal uptake on scintigraphic bone scanning should be kept in mind in patients with MDS.

  19. Long-Term Cinacalcet HCl Treatment Improved Bone Metabolism in Japanese Hemodialysis Patients with Secondary Hyperparathyroidism

    Science.gov (United States)

    Shigematsu, Takashi; Akizawa, Tadao; Uchida, Eiji; Tsukamoto, Yusuke; Iwasaki, Manabu; Koshikawa, Shouzo

    2009-01-01

    Background/Aims Few clinical trials conducted with cinacalcet have thoroughly addressed its effects of on bone metabolism. We assessed the effects of cinacalcet on bone markers in Japanese hemodialysis (HD) patients with secondary hyperparathyroidism (SHPT). Methods 200 Japanese HD patients with intact PTH (iPTH) levels ≥300 pg/ml were enrolled. The dose of cinacalcet was titrated from 25 up to 100 mg/day to achieve iPTH levels ≤250 pg/ml for 52 weeks. Results At the end of the study visit, 57.8% of patients (115/199) had achieved iPTH levels ≤250 pg/ml. Serum Ca, phosphorus (P) and Ca × P levels decreased rapidly and were maintained throughout the study. At week 52, all bone metabolic markers levels had decreased significantly from baseline. Although bone resorption markers gradually decreased throughout the study period, bone alkaline phosphatase significantly increased during the first 4 weeks and then gradually decreased. Conclusions The time courses of changes in bone markers after cinacalcet treatment resembled those observed after surgical parathyroidectomy (PTx), sometimes described as the hungry bone syndrome, indicating that cinacalcet treatment induces a rapid recovery in bone response to calcium. In addition, long-term efficacy and safety of cinacalcet were also observed in Japanese patients undertaking long-term hemodialysis (167.0 ± 81.4 months). PMID:18797166

  20. Biomechanical properties of bone in a mouse model of Rett syndrome.

    Science.gov (United States)

    Kamal, Bushra; Russell, David; Payne, Anthony; Constante, Diogo; Tanner, K Elizabeth; Isaksson, Hanna; Mathavan, Neashan; Cobb, Stuart R

    2015-02-01

    Rett syndrome (RTT) is an X-linked genetic disorder and a major cause of intellectual disability in girls. Mutations in the methyl-CpG binding protein 2 (MECP2) gene are the primary cause of the disorder. Despite the dominant neurological phenotypes, MECP2 is expressed ubiquitously throughout the body and a number of peripheral phenotypes such as scoliosis, reduced bone mineral density and skeletal fractures are also common and important clinical features of the disorder. In order to explore whether MeCP2 protein deficiency results in altered structural and functional properties of bone and to test the potential reversibility of any defects, we have conducted a series of histological, imaging and biomechanical tests of bone in a functional knockout mouse model of RTT. Both hemizygous Mecp2(stop/y) male mice in which Mecp2 is silenced in all cells and female Mecp2(stop/+) mice in which Mecp2 is silenced in ~50% of cells as a consequence of random X-chromosome inactivation, revealed significant reductions in cortical bone stiffness, microhardness and tensile modulus. Microstructural analysis also revealed alterations in both cortical and cancellous femoral bone between wild-type and MeCP2-deficient mice. Furthermore, unsilencing of Mecp2 in adult mice cre-mediated stop cassette deletion resulted in a restoration of biomechanical properties (stiffness, microhardness) towards wild-type levels. These results show that MeCP2-deficiency results in overt, but potentially reversible, alterations in the biomechanical integrity of bone and highlights the importance of targeting skeletal phenotypes in considering the development of pharmacological and gene-based therapies.

  1. Clinical Guidelines for Management of Bone Health in Rett Syndrome Based on Expert Consensus and Available Evidence.

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    Amanda Jefferson

    Full Text Available We developed clinical guidelines for the management of bone health in Rett syndrome through evidence review and the consensus of an expert panel of clinicians.An initial guidelines draft was created which included statements based upon literature review and 11 open-ended questions where literature was lacking. The international expert panel reviewed the draft online using a 2-stage Delphi process to reach consensus agreement. Items describe the clinical assessment of bone health, bone mineral density assessment and technique, and pharmacological and non-pharmacological interventions.Agreement was reached on 39 statements which were formulated from 41 statements and 11 questions. When assessing bone health in Rett syndrome a comprehensive assessment of fracture history, mutation type, prescribed medication, pubertal development, mobility level, dietary intake and biochemical bone markers is recommended. A baseline densitometry assessment should be performed with accommodations made for size, with the frequency of surveillance determined according to individual risk. Lateral spine x-rays are also suggested. Increasing physical activity and initiating calcium and vitamin D supplementation when low are the first approaches to optimizing bone health in Rett syndrome. If individuals with Rett syndrome meet the ISCD criterion for osteoporosis in children, the use of bisphosphonates is recommended.A clinically significant history of fracture in combination with low bone densitometry findings is necessary for a diagnosis of osteoporosis. These evidence and consensus-based guidelines have the potential to improve bone health in those with Rett syndrome, reduce the frequency of fractures, and stimulate further research that aims to ameliorate the impacts of this serious comorbidity.

  2. Bone marrow findings in autoimmune lymphoproliferative syndrome with germline FAS mutation

    Science.gov (United States)

    Xie, Yi; Pittaluga, Stefania; Price, Susan; Raffeld, Mark; Hahn, Jamie; Jaffe, Elaine S.; Rao, V. Koneti; Maric, Irina

    2017-01-01

    Autoimmune lymphoproliferative syndrome is a rare genetic disorder characterized by defective FAS-mediated apoptosis, autoimmune disease, accumulation of mature T-cell receptor alpha/beta positive, CD4 and CD8 double-negative T cells and increased risk of lymphoma. Despite frequent hematologic abnormalities, literature is scarce regarding the bone marrow pathology in autoimmune lymphoproliferative syndrome. We retrospectively reviewed 3l bone marrow biopsies from a cohort of 240 patients with germline FAS mutations. All biopsies were performed for the evaluation of cytopenias or to rule out lymphoma. Clinical information was collected and morphological, immunohistochemical, flow cytometric and molecular studies were performed. Bone marrow lymphocytosis was the predominant feature, present in 74% (23/31) of biopsies. The lymphoid cells showed several different patterns of infiltration, most often forming aggregates comprising T cells in 15 cases, B cells in one and a mixture of T and B cells in the other seven cases. Double-negative T cells were detected by immunohistochemistry in the minority of cases (10/31; 32%); significantly, all but one of these cases had prominent double-negative T-lymphoid aggregates, which in four cases diffusely replaced the marrow space. One case showed features of Rosai-Dorfman disease, containing scattered S-100+ cells with emperipolesis and double-negative T cells. No clonal B or T cells were detected by polymerase chain reaction in any evaluated cases. Classical Hodgkin lymphoma was identified in three cases. Our results demonstrate that infiltrates of T cells, or rarely B cells, can be extensive in patients with autoimmune lymphoproliferative syndrome, mimicking lymphoma. A multi-modality approach, integrating clinical, histological, immunohistochemical as well as other ancillary tests, can help avoid this diagnostic pitfall. This study is registered at Clinicaltrials.gov ID # NCT00001350 PMID:27846610

  3. Temporal bone histopathology in trisomy 18 syndrome: a report of two cases.

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    Saito,Ryusuke

    1987-06-01

    Full Text Available Temporal bone histopathological findings of two patients with trisomy 18 syndrome are described. Many of the abnormalities previously described were seen in the present cases; namely, atresia of the external auditory canal, aberrant course of the tensor tympani muscle, malformed stapes, aberrant course of the facial nerve with an obtuse angulation at the first genu and displacement of geniculate ganglion cells into the internal auditory canal, shortened cochlea with decreased spiral ganglion cell population, and vestibular anomalies, such as bony and membranous blockage of the superior semicircular canal. Moreover, an extremely underdeveloped malleus and incus continuous with a persistent Meckel's cartilage were observed.

  4. Is chronic kidney disease-mineral bone disorder (CKD-MBD) really a syndrome?

    Science.gov (United States)

    Cozzolino, Mario; Ureña-Torres, Pablo; Vervloet, Marc G; Brandenburg, Vincent; Bover, Jordi; Goldsmith, David; Larsson, Tobias E; Massy, Ziad A; Mazzaferro, Sandro

    2014-10-01

    The concept of chronic kidney disease-mineral bone disorder (CKD-MBD) does not appear to fulfil the requirements for a syndrome at first glance, but its definition has brought some clear-cut benefits for clinicians and patients, including wider and more complex diagnostic and therapeutic approaches to the management of this challenging set of issues. Admittedly, not all components of CKD-MBD are present in all patients at all times, but these are highly interrelated, involving mineral and bone laboratory abnormalities, clinical and histological bone disease and finally, cardiovascular disease. The presence of typical biological bone ossification processes in an ectopic anatomical location in CKD has helped to define the existence of an unprecedented bone-vascular relationship, extending its interest even to other medical specialities. For now, we believe that CKD-MBD does not reach full criteria to be defined as a syndrome. However, this novel concept has clearly influenced current clinical guidelines. The National Kidney Foundation Kidney Disease Outcomes Quality Initiative (NKF/KDOQI™) guidelines in 2003 for instance recommended that calcium-based phosphate binders should be avoided to treat hyperphosphataemia in the presence of cardiovascular calcifications. In 2009, the KDIGO and other guidelines reinforced and extended this recommendation by stating that it is reasonable to choose oral phosphate binder therapy by taking into consideration other components of CKD-MBD. Similarly, it is also considered reasonable to use information on vascular/valvular calcification to guide the management of CKD-MBD. Our current assumption as a working group 'CKD-MBD' is that CKD-MBD has the potential to be defined a true syndrome, such as a constellation of concurrent signs and symptoms that suggest a common underlying mechanism for these components as opposed to the term disease. The term 'syndrome' also implies that in any patient at risk due to the presence of one or a few

  5. Bone

    Science.gov (United States)

    Helmberger, Thomas K.; Hoffmann, Ralf-Thorsten

    The typical clinical signs in bone tumours are pain, destruction and destabilization, immobilization, neurologic deficits, and finally functional impairment. Primary malignant bone tumours are a rare entity, accounting for about 0.2% of all malignancies. Also benign primary bone tumours are in total rare and mostly asymptomatic. The most common symptomatic benign bone tumour is osteoid osteoma with an incidence of 1:2000.

  6. Results of the implantation of bone-anchored hearing aids in patients with treacher-collins syndrome

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    Alexandra Kolontai de Sousa Oliveira1

    2013-04-01

    Full Text Available Introduction: Treacher-Collins syndrome is characterized by craniofacial malformations, narrowing of the external auditory canal (EAC, and, in 30% of cases, agenesis of the canal and ossicular chain defects. The use of hearing aids (HA is not possible in cases in which agenesis or stenosis of the EAC accompanies conductive deafness. In contrast, bone conduction implants such as the Bone Anchored Hearing Aid (BAHA® allow direct stimulation of the cochlea and are thus superior to conventional hearing aids in cases of severe conductive hearing loss. Objective: To present 2 cases of patients with Treacher-Collins syndrome who underwent implantation of BAHA®. Cases Reports: The first patient was a 52-year-old woman diagnosed with Treacher-Collins syndrome who presented with severe bilateral mixed hearing loss and a history of unsuccessful previous use of a bone contact conduction device. The BAHA® implantation was uneventful, and the post-operative results were good. The second patient was a 14-year-old girl who was also diagnosed with Treacher-Collins Syndrome with bilateral moderate conductive hearing loss by audiometry. The use of a bone vibrator contact device did not improve her hearing; however, implantation of a BAHA® resulted in a decreased gap postoperatively. Final comments: BAHA® hearing devices provide adequate rehabilitation and consequent improvement of the quality of life in patients with Treacher-Collins syndrome.

  7. Imaging findings in a child with calcineurin inhibitor-induced pain syndrome after bone marrow transplant for beta thalassemia major

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    Ayyala, Rama S.; Arnold, Staci D.; Bhatia, Monica; Dastgir, Jahannaz [Columbia University Medical Center, Morgan Stanley Children' s Hospital, Department of Radiology, New York, NY (United States)

    2016-10-15

    Calcineurin inhibitor-induced pain syndrome is an entity recognized in patients on immunosuppressive therapy after transplantation. Diagnosis is characterized by onset of pain beginning in the setting of an elevated calcineurin-inhibitor trough level. Reducing the medication dose relieves symptoms. Imaging findings can be nonspecific, including bone marrow edema and periosteal reaction. We present the unique case of calcineurin inhibitor-induced pain syndrome in a child and review the imaging findings. (orig.)

  8. Women With Polycystic Ovary Syndrome Have Comparable Hip Bone Geometry to Age-Matched Control Women.

    Science.gov (United States)

    McBreairty, Laura E; Zello, Gordon A; Gordon, Julianne J; Serrao, Shani B; Pierson, Roger A; Chizen, Donna R; Chilibeck, Philip D

    2016-12-26

    Polycystic ovary syndrome (PCOS) is an endocrine disorder affecting women of reproductive age manifesting with polycystic ovaries, menstrual irregularities, hyperandrogenism, hirsutism, and insulin resistance. The oligomenorrhea and amenorrhea characteristic to PCOS are associated with low bone mineral density (BMD); conversely, the hyperandrogenism and hyperinsulinemia may elicit a protective effect on BMD. As bone geometric properties provide additional information about bone strength, the objective of this study was to compare measures of hip geometry in women with PCOS to a healthy female population. Using dual-energy X-ray absorptiometry, BMD and measures of hip geometry were determined in women with PCOS (n = 60) and healthy controls (n = 60) aged 18-35 years. Clinical biochemical measures were also determined in women with PCOS. Measures of hip geometry, including cross-sectional area, cross-sectional moment of inertia, subperiosteal width (SPW), and section modulus, were similar between groups following correction for body mass index (BMI) (all p > 0.05) with intertrochanter SPW significantly lower in women with PCOS (p geometry in women with PCOS. Copyright © 2016 International Society for Clinical Densitometry. Published by Elsevier Inc. All rights reserved.

  9. A study of cytological changes in the bone marrow of patients with severe fever with thrombocytopenia syndrome.

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    Xing QuanTai

    Full Text Available BACKGROUND: Peripheral blood leucopenia and thrombocytopenia are the main manifestations in severe fever with thrombocytopenia syndrome (SFTS patients. However, the underlying causes are poorly understood. Therefore, we aimed to investigate cytology of bone marrow samples collected from SFTS patients. METHODS: 10 SFTS patients were identified by typical clinical manifestations, detection of peripheral blood leucopenia and thrombocytopenia, and nucleic acid-based detection of the newly identified bunyavirus. SFTS patients, along with 10 participants with acute aplastic anemia and 10 healthy volunteers were enrolled in this study after written informed consent to undergo bone marrow cytological examination. RESULTS: We observed similar bone marrow properties in SFTS patients and healthy volunteers, significantly different from the characteristics observed in acute aplastic anemia patients. CONCLUSION: Similarities between bone marrow samples collected from SFTS patients and healthy volunteers suggest that peripheral blood leucopenia and thrombocytopenia do not result from bone marrow cell plasticity.

  10. Food loss in a hungry world, a problem?

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    Natalia Martínez Z.

    2014-08-01

    Full Text Available Mainly in developing countries, food loss and waste is a problem that is difficult to measure. Investigations have been conducted in industrialized countries; however, consistent evidence of how much is really being depleted is limited. The accessible data give the illusion of evidence, but are supported by very restricted facts. In recent years, food waste and loss have gained importance because more than 35% of food is wasted. Nevertheless, with this percentage of food, most of the 800 million people that go hungry every day in the world could be fed. This reflection paper aims to describe the different approaches and meanings of food waste, food loss and food wastage. Similarly, this article identifies the phases of the food supply chain where food is being lost and wasted. Based on the available data, developed and developing countries are compared. It was concluded that, in developed countries, the most important losses are in the consumption phase; in developing countries, the losses take place in the growing and harvesting phase. Changing consumption habits as well as the improvement of cropping and harvesting processes could be an option for reducing this problem, especially in developing countries.

  11. Four years survival and marginal bone loss of implants in patients with Down syndrome and cerebral palsy.

    Science.gov (United States)

    Corcuera-Flores, José Ramón; López-Giménez, Julián; López-Jiménez, Julián; López-Giménez, Ana; Silvestre-Rangil, Javier; Machuca-Portillo, Guillermo

    2017-06-01

    To evaluate implant survival rate and marginal bone loss (MBL) after 4 years in patients with Down syndrome and cerebral palsy, compared with a healthy control group. The case group comprises 102 implants in 19 patients (71 cerebral palsy, 21 Down syndrome), and the control group comprises 70 implants in 22 healthy patients. One implant per patient was selected (n = 41 implants) to take clustering effects into account. MBL was measured using two panoramic radiographs (after surgery and 4 years later). Lagervall-Jansson's Index was used. Statistics used are chi-squared test and Haberman's post hoc test. p Value is significant at Down syndrome had a higher MBL than cerebral palsy (entire sample p Down syndrome saw some damage to bone support (entire sample p Down syndrome (p Down syndrome has a higher risk of MBL and implant loss; therefore, special precautions should be taken when deciding on treatment for these patients. As a consequence of this pilot study, professionals should be very cautious in placing implants in patients with Down syndrome.

  12. Bone Mineral Density and Respiratory Muscle Strength in Male Individuals with Mental Retardation (with and without Down Syndrome)

    Science.gov (United States)

    da Silva, Vinicius Zacarias Maldaner; Barros, Jonatas de Franca; de Azevedo, Monique; de Godoy, Jose Roberto Pimenta; Arena, Ross; Cipriano, Gerson, Jr.

    2010-01-01

    The purpose of this study was to assess the respiratory muscle strength (RMS) in individuals with mental retardation (MR), with or without Down Syndrome (DS), and its association with bone mineral density (BMD). Forty-five male individuals (15 with DS, 15 with mental retardation (MR) and 15 apparently healthy controls), aged 20-35, participated in…

  13. Clinical Guidelines for Management of Bone Health in Rett Syndrome Based on Expert Consensus and Available Evidence

    DEFF Research Database (Denmark)

    Jefferson, Amanda; Leonard, Helen; Siafarikas, Aris

    2016-01-01

    OBJECTIVES: We developed clinical guidelines for the management of bone health in Rett syndrome through evidence review and the consensus of an expert panel of clinicians. METHODS: An initial guidelines draft was created which included statements based upon literature review and 11 open-ended que...

  14. Hurler syndrome: a case report of a 5-year follow-up of dental findings after bone marrow transplantation.

    Science.gov (United States)

    Wadenya, Rose O; Stout, Angela M; Gupta, Avin; Monge, Janet

    2010-01-01

    Hurler syndrome is a rare autosomal recessive disorder of mucopolysaccharide metabolism. It results from a deficiency in lysosomal enzymes responsible for the breakdown of glycosaminoglycans. Affected individuals may show progressive physical and mental deterioration as glycosaminoglycans are deposited in the organs of the body. Bone marrow transplantation (BMT) is effective in improving some of the clinical manifestations of Hurler syndrome. Death is caused by cardiorespiratory failure and usually occurs before the second decade of life. In this case report, the course of dental development was followed over 5 years, from the primary dentition into the permanent dentition, of a child who was successfully treated with a bone marrow transplant in infancy. The timing of bone marrow therapy has significant and variable effect on the stages of tooth development with implications for the long-term maintenance of the dentition.

  15. Laronidase for cardiopulmonary disease in Hurler syndrome 12 years after bone marrow transplantation.

    Science.gov (United States)

    Valayannopoulos, Vassili; de Blic, Jacques; Mahlaoui, Nizar; Stos, Bertrand; Jaubert, Francis; Bonnet, Damien; Fischer, Alain; de Lonlay, Pascale

    2010-11-01

    A patient with severe mucopolysaccharidosis type I (Hurler syndrome) underwent bone marrow transplantation twice (at the ages of 2 and 2.5 years), both times with his HLA-identical heterozygous brother as the donor. Between the ages of 10 and 14 years, despite 92% donor engraftment and 50% normal α-L-iduronidase activity, he developed progressive respiratory failure with severe pulmonary arterial hypertension, upper airway obstruction, and interstitial lung disease. Noninvasive ventilation and weekly laronidase therapy were initiated. Within 24 months, his mean pulmonary artery pressure was within the upper limit of normal and interstitial lung disease and airway obstruction improved markedly. He went from using a wheelchair to having full ambulation, he no longer required daytime ventilation, and his quality-of-life scores (Child Health Assessment Questionnaire) significantly improved.

  16. Decompressive Abdominal Laparotomy for Abdominal Compartment Syndrome in an Unengrafted Bone Marrow Recipient with Septic Shock

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    Derrick J. N. Dauplaise

    2010-01-01

    Full Text Available Objective. To describe a profoundly immunocompromised (panleukopenia child with septic shock who developed abdominal compartment syndrome (ACS and was successfully treated with surgical decompression. Design. Individual case report. Setting. Pediatric intensive care unit of a tertiary children's hospital. Patient. A 32-month-old male with Fanconi anemia who underwent bone marrow transplantation (BMT 5 days prior to developing septic shock secondary to Streptococcus viridans and Escherichia coli ACS developed after massive fluid resuscitation, leading to cardiopulmonary instability. Interventions. Emergent surgical bedside laparotomy and silo placement. Measurements and Main Results. The patient's cardiopulmonary status stabilized after decompressive laparotomy. The abdomen was closed and the patient survived to hospital discharge without cardiac, respiratory, or renal dysfunction. Conclusions. The use of laparotomy and silo placement in an unengrafted BMT patient with ACS and septic shock did not result in additional complications. Surgical intervention for ACS is a reasonable option for high risk, profoundly immunocompromised patients.

  17. Cerebral fat embolism syndrome after long bone fracture due to gunshot injury

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    Latif Duran

    2014-01-01

    Full Text Available Cerebral fat embolism syndrome is a lethal complication of long-bone fractures and clinically manifasted with respiratory distress, altered mental status, and petechial rash. We presented a 20-year-old male admitted with gun-shot wounds to his left leg. Twenty-four hours after the event, he had generalized tonic clonic seizures, decorticate posture and a Glascow Coma Scale of seven with localization of painful stimuli. Subsequent magnetic resonance imaging of the brain showed a star-field pattern defining multiple lesions of restricted diffusion. On a 4-week follow-up, he had returned to normal neurological function. Despite the severity of the neurological condition upon initial presentation, the case cerebral fat embolism illustrates that, cerebral dysfunction associated with cerebral fat embolism illustrates reversible.

  18. Nasal bone length, prenasal thickness, prenasal thickness-to-nasal bone length ratio and prefrontal space ratio in second- and third-trimester fetuses with Down syndrome.

    Science.gov (United States)

    Vos, F I; De Jong-Pleij, E A P; Bakker, M; Tromp, E; Pajkrt, E; Kagan, K O; Bilardo, C M

    2015-02-01

    To evaluate nasal bone length (NBL), prenasal thickness (PT), prenasal thickness-to-nasal bone length (PT-NBL) ratio and prefrontal space ratio (PFSR) as markers for Down syndrome in the second and third trimesters. NBL, PT, PT-NBL ratio and PFSR were measured retrospectively in stored two-dimensional images or three-dimensional volumes (corrected to the mid-sagittal plane) of fetuses with Down syndrome, which were retrieved from the digital databases of participating units. Measurements were performed on the stored images and volumes by two experienced operators, and the values obtained were compared to our previously reported normal ranges for euploid fetuses in order to assess the detection rates for Down syndrome. A total of 159 fetuses with Down syndrome were included in the analysis, six of which were excluded because of inadequate available images. Median maternal age was 36.0 years and median gestational age was 23 + 1 weeks. NBL and PT were correlated with gestational age (P Down syndrome, the PT-NBL ratio yielded the highest detection rate (86.2%), followed by PFSR (79.7%), PT (63.4%) and NBL (61.9%). All markers were abnormal in 33.6% of cases, whilst all were normal in 4.7%. At least one of the four markers was abnormal in 95.3%, and either the PT-NBL ratio or PFSR was abnormal in 93.8%. Detection rates were not related to gestational age. The PT-NBL ratio and PFSR are robust second- and third-trimester markers for Down syndrome. Both provide high detection rates and are easy to use, as the cut-off for normality is constant throughout gestation. Ltd. Copyright © 2014 ISUOG. Published by John Wiley & Sons Ltd.

  19. Familial dysautonomia (Riley-Day syndrome). Temporal bone findings and otolaryngological manifestations.

    Science.gov (United States)

    Tokita, N; Sekhar, H K; Sachs, M; Daly, J F

    1978-01-01

    Familial dysautonomia, or Riley-Day syndrome, is inherited in an autosomal recessive fashion and occurs almost exclusively in Jewish families. This disorder is characterized by a smooth tongue devoid of fungiform papillae and of taste buds, and is clinically associated with poor taste discrimination. An unsteady gait and dizziness on change in position are also common presenting symptoms. This study reports the histopathological findings of eight temporal bones from four patients with documented familial dysautonomia. For the control series, 13 normal temporal bones were also studied. The most striking finding in the dysautonomic patients was an extreme paucity of geniculate ganglion cells (P less than 0.001). A statistically significant reduction in the number of neurons was also found both in the superior and in the inferior divisions of the vestibular nerve (P less than 0.001). The paucity of the geniculate ganglion cells correlates well with the impairment of the taste in dysautonomic individuals, since the afferent fibers leaving taste buds of the anterior two-thirds of the tongue run via the chorda tympani and have their cell bodies in the geniculate ganglion. Furthermore, the reduction in the number of Scarpa's ganglion cells observed in the dysautonomic patients studied here could account for a poor response to caloric test, positional vertigo and an unsteady gait in this condition.

  20. Modeling Human Bone Marrow Failure Syndromes Using Pluripotent Stem Cells and Genome Engineering.

    Science.gov (United States)

    Jung, Moonjung; Dunbar, Cynthia E; Winkler, Thomas

    2015-12-01

    The combination of epigenetic reprogramming with advanced genome editing technologies opened a new avenue to study disease mechanisms, particularly of disorders with depleted target tissue. Bone marrow failure syndromes (BMFS) typically present with a marked reduction of peripheral blood cells due to a destroyed or dysfunctional bone marrow compartment. Somatic and germline mutations have been etiologically linked to many cases of BMFS. However, without the ability to study primary patient material, the exact pathogenesis for many entities remained fragmentary. Capturing the pathological genotype in induced pluripotent stem cells (iPSCs) allows studying potential developmental defects leading to a particular phenotype. The lack of hematopoietic stem and progenitor cells in these patients can also be overcome by differentiating patient-derived iPSCs into hematopoietic lineages. With fast growing genome editing techniques, such as CRISPR/Cas9, correction of disease-causing mutations in iPSCs or introduction of mutations in cells from healthy individuals enable comparative studies that may identify other genetic or epigenetic events contributing to a specific disease phenotype. In this review, we present recent progresses in disease modeling of inherited and acquired BMFS using reprogramming and genome editing techniques. We also discuss the challenges and potential shortcomings of iPSC-based models for hematological diseases.

  1. FDG PET/CT in Early and Late Stages of SAPHO Syndrome: Two Case Reports With MRI and Bone Scintigraphy Correlation.

    Science.gov (United States)

    Dong, Aisheng; Bai, Yushu; Cui, Yong; Zhang, Jian; Zuo, Changjing

    2016-04-01

    Synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome is a rare disease, which may be underdiagnosed or misdiagnosed because of nonspecific clinical and imaging findings. We present 2 cases of SAPHO syndrome with MRI, bone scintigraphy, and FDG PET/CT findings. In case 1 with early-stage disease, the active osteitis showed osteolytic bone destruction with increased FDG uptake. In case 2 with late-stage disease, the inactive bone lesions presented as osteosclerosis with normal FDG uptake. Familiarity with the FDG PET/CT findings of SAPHO syndrome in different stages may be helpful for correct diagnosis.

  2. The Bone Mineral Density Values in Fibromiyalgia Syndrome: A Risk Factor For Osteoporosis

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    Akın Erdal

    2003-06-01

    Full Text Available Fibromyalgia syndrome(FMS is a chronic musculoskeletal disease characterized by widespread pain, tender points and clinical findings like, fatigue, sleep disturbances, irritable bowel syndrome. Because of the association with depression and sedantary life style, osteoporosis may be a problem in patients with fibromyalgia. This study was carried out to determine whether fibromyalgia is a risk factor in osteoporosis or not. Thirty-eight women with ages ranging from 25 to 50, meeting the American College of Rheumatology criteria for fibromyalgia and 20 healthy controls were included in the study. Lumbar spine and left femoral bone mineral density (BMD values were determined with Hologic 2000 DEXA. Beck Depression Scale was used to determine the depression levels. BMD values were significantly lower in FMS group than controls in both lumbar and hip regions (p<0.05. There was also a negative significant correlation between Beck Depression Scale and BMD values in in both lumbar and hip regions (r = -0.537, p=0.001; r = -0.473, p=0.003, respectively. We concluded that fibromyalgia may be a risk factor for osteoporosis and the association with depression may have important implications. Early implementation of appropriate nutritional supplementation (calcium/vitamin D, and exercise and pharmacological therapy may be indicated in patients with FMS. Of Clearly further studies are needed on this subject.

  3. Treatment of Pathological Bone Fractures in a Patient with McCune-Albright Syndrome

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    Jana Kollerova

    2013-01-01

    Full Text Available McCune-Albright syndrome is a rare genetic disorder with typical skeletal and endocrine manifestations. The disease course is complicated by recurrent fractures resulting from polyostotic fibrous dysplasia and the treatment is thus primarily directed at the reduction of the risk of fractures. However, due to the complex mechanism of the skeletal damage the standard antiporotic therapeutics are ineffective. We report here a case of a 31-year-old female, diagnosed with the McCune-Albright syndrome in early childhood. She was suffering from extensive bone involvement, complicated by recurrent fractures despite the treatment with bisphosphonates. In addition, the disease course was complicated by the impairment of several endocrine functions—precocious puberty, hyperestrogenism, and hyperthyroidism for which a total thyroidectomy was performed. During the operation, two enlarged parathyroid glands were removed. This resulted in severe hypocalcaemia in the postoperative period with a need for supplementation with very high calcium and vitamin D doses. After this episode, the patient has remained free of fractures. We discuss here the corrected thyroid function, the supplementation with unconventionally high doses of vitamin D and calcium, and the termination of bisphosphonates treatment as presumable factors contributing to the reduced fracture risk in this patient.

  4. Treatment of Pathological Bone Fractures in a Patient with McCune-Albright Syndrome.

    Science.gov (United States)

    Kollerova, Jana; Koller, Tomas; Zelinkova, Zuzana; Kostalova, Ludmila; Payer, Juraj

    2013-01-01

    McCune-Albright syndrome is a rare genetic disorder with typical skeletal and endocrine manifestations. The disease course is complicated by recurrent fractures resulting from polyostotic fibrous dysplasia and the treatment is thus primarily directed at the reduction of the risk of fractures. However, due to the complex mechanism of the skeletal damage the standard antiporotic therapeutics are ineffective. We report here a case of a 31-year-old female, diagnosed with the McCune-Albright syndrome in early childhood. She was suffering from extensive bone involvement, complicated by recurrent fractures despite the treatment with bisphosphonates. In addition, the disease course was complicated by the impairment of several endocrine functions-precocious puberty, hyperestrogenism, and hyperthyroidism for which a total thyroidectomy was performed. During the operation, two enlarged parathyroid glands were removed. This resulted in severe hypocalcaemia in the postoperative period with a need for supplementation with very high calcium and vitamin D doses. After this episode, the patient has remained free of fractures. We discuss here the corrected thyroid function, the supplementation with unconventionally high doses of vitamin D and calcium, and the termination of bisphosphonates treatment as presumable factors contributing to the reduced fracture risk in this patient.

  5. Effect of testosterone replacement therapy on bone mineral density in patients with Klinefelter syndrome.

    Science.gov (United States)

    Jo, Dae Gi; Lee, Hyo Serk; Joo, Young Min; Seo, Ju Tae

    2013-11-01

    Klinefelter syndrome (KS) is related to testicular insufficiency, which causes low testosterone levels in serum. Generally, sex hormone levels and bone mineral density (BMD) are lower in patients with KS than normal. We investigated the effects of testosterone replacement on serum testosterone levels and BMD in KS patients. From December 2005 to March 2008, 18 KS patients with a 47, XXY karyotype were treated with initial intramuscular injections of long-acting testosterone undecanoate (Nebido®, 1000 mg/4 mL) at baseline and second injections after six weeks. An additional four injections were administered at intervals of 12 weeks after the second injection. BMD was measured at the lumbar spine (L2-4), the left femoral neck and Ward's triangle, using dual energy X-ray absorptiometry. Medical histories, physical examinations and prostate specific antigen, hematology and serum chemistry were conducted for each patient. In addition, total testosterone and sex hormone-binding globulin levels were measured. Following testosterone replacement, mean serum total testosterone increased significantly from baseline (0.90 vs. 4.51 ng/mL, ptestosterone rose to normal levels after replacement in all patients. The mean BMD of the lumbar spine increased significantly (0.91 vs. 0.97 g/cm², ptestosterone replacement therapy may be effective in treating BMD deficiency in men with testosterone deficiency, especially those with Klinefelter syndrome.

  6. Hungry Horse Dam Fisheries Mitigation; Kokanee Stocking and Monitoring in Flathead Lake, 1995 Annual Report.

    Energy Technology Data Exchange (ETDEWEB)

    Fredenberg, Wade; Carty, Daniel (US Fish and Wildlife Service, Kalispell, MT); Cavigli, Jon (Montana Department of Fish, Wildlife and Parks, Kalispell, MT)

    1996-06-01

    The operation of Hungry Horse Dam on the South Fork-of the Flathead River reduced the reproductive success of kokanee (Oncorhynchus nerka) spawning in the Flathead River. Montana Fish, Wildlife and Parks (MFWP) and the Confederated Salish and Kootenai Tribes (CSKT) authored a mitigation plan to offset those losses. The mitigation goal, stated in the Fisheries Mitigation Plan for Losses Attributed to the Construction and Operation of Hungry Horse Dam, is to: {open_quotes}Replace lost annual production of 100,000 kokanee adults, initially through hatchery production and pen rearing in Flathead Lake, partially replacing lost forage for lake trout (Salvelinus namaycush) in Flathead Lake.{close_quotes}

  7. Porcine models for the metabolic syndrome, digestive and bone disorders: a general overview.

    Science.gov (United States)

    Litten-Brown, J C; Corson, A M; Clarke, L

    2010-06-01

    The aim of this review article is to provide an overview of the role of pigs as a biomedical model for humans. The usefulness and limitations of porcine models have been discussed in terms of metabolic, cardiovascular, digestive and bone diseases in humans. Domestic pigs and minipigs are the main categories of pigs used as biomedical models. One drawback of minipigs is that they are in short supply and expensive compared with domestic pigs, which in contrast cost more to house, feed and medicate. Different porcine breeds show different responses to the induction of specific diseases. For example, ossabaw minipigs provide a better model than Yucatan for the metabolic syndrome as they exhibit obesity, insulin resistance and hypertension, all of which are absent in the Yucatan. Similar metabolic/physiological differences exist between domestic breeds (e.g. Meishan v. Pietrain). The modern commercial (e.g. Large White) domestic pig has been the preferred model for developmental programming due to the 2- to 3-fold variation in body weight among littermates providing a natural form of foetal growth retardation not observed in ancient (e.g. Meishan) domestic breeds. Pigs have been increasingly used to study chronic ischaemia, therapeutic angiogenesis, hypertrophic cardiomyopathy and abdominal aortic aneurysm as their coronary anatomy and physiology are similar to humans. Type 1 and II diabetes can be induced in swine using dietary regimes and/or administration of streptozotocin. Pigs are a good and extensively used model for specific nutritional studies as their protein and lipid metabolism is comparable with humans, although pigs are not as sensitive to protein restriction as rodents. Neonatal and weanling pigs have been used to examine the pathophysiology and prevention/treatment of microbial-associated diseases and immune system disorders. A porcine model mimicking various degrees of prematurity in infants receiving total parenteral nutrition has been established to

  8. Nutritional supplementation of hop rho iso-alpha acids, berberine, vitamin D₃, and vitamin K₁ produces a favorable bone biomarker profile supporting healthy bone metabolism in postmenopausal women with metabolic syndrome.

    Science.gov (United States)

    Lamb, Joseph J; Holick, Michael F; Lerman, Robert H; Konda, Veera R; Minich, Deanna M; Desai, Anuradha; Chen, Tai C; Austin, Melissa; Kornberg, Jacob; Chang, Jyh-Lurn; Hsi, Alex; Bland, Jeffrey S; Tripp, Matthew L

    2011-05-01

    Metabolic syndrome poses additional risk for postmenopausal women who are already at risk for osteoporosis. We hypothesized that a nutritional supplement containing anti-inflammatory phytochemicals and essential bone nutrients would produce a favorable bone biomarker profile in postmenopausal women with metabolic syndrome. In this 14-week, randomized trial, 51 women were instructed to consume a modified Mediterranean-style, low-glycemic-load diet and to engage in aerobic exercise. Those in the intervention arm (n = 25) additionally received 200 mg hop rho iso-alpha acids, 100 mg berberine sulfate trihydrate, 500 IU vitamin D₃, and 500 μg vitamin K₁ twice daily. Forty-five women completed the study. Baseline nutrient intake did not differ between arms. Compared with baseline, the intervention arm exhibited an approximate 25% mean decrease (P vitamin D₃, and vitamin K₁ produced a more favorable bone biomarker profile indicative of healthy bone metabolism in postmenopausal women with metabolic syndrome.

  9. Shoulder uptake in the bone scintigraphy in patients with hemiplegic reflex sympathetic dystrophy syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Jong Jin; Chung, June Key; Lee, Dong Soo; Hong, Joon Beom; Han, Tai Ryoon; Lee, Myung Chul [College of Medicine, Seoul National Univ., Seoul (Korea, Republic of)

    2004-08-01

    Increased uptake of wrist and hand joints in three phase bone scintigraphy (TPBS) have been used in the detection of reflex sympathetic dystrophy syndrome (RSDS). TPBS frequently shows increased shoulder uptake in the hemiplegic RSDS patients. We investigated the significance of the shoulder uptake in the detection of these patients. Twenty three patients who had hemiplegia due to brain stroke and diagnosed as RSD were enrolled in this study (M:F=16:7, R:L=11:12). The mean age was 63{+-}10 yrs. Ten normal volunteer (mean age: 60{+-}5, M:F=1:9) data was used as control group. TPBS was performed 59{+-}32 days after stoke (acute stage). We obtained the count ratios of bilateral hands by drawing a region of interest (ROI) in three phase images and compared to the count ratios of shoulders in the delayed image. Hand ROI included an ipsilateral wrist. Sensitivity of detecting the affected limb was defined using the right/left count ratio of normal control. Sensitivities using count ratios of hand blood flow, blood pool and delayed image were 45%, 76% and 78%, respectively. Sensitivity of shoulder count ratio was 74%. Log of right/left counts of hand delayed image and that of shoulder delayed image were correlated well with statistical significance (Spearman's R=0.824, p<0.001). Shoulder uptake showed good correlation with hand uptake in the delayed image of TPBS. Shoulder uptake maybe helpful in the diagnosis of reflex sympathetic dystrophy syndrome in patients with hemiplegia.

  10. A brief mindfulness intervention reduces unhealthy eating when hungry, but not the portion size effect

    NARCIS (Netherlands)

    Marchiori, D.R.; Papies, E.K.

    2014-01-01

    Objective: The present research examined the effects of a mindfulness-based intervention to foster healthy eating. Specifically, we tested whether a brief mindfulness manipulation can prevent the portion size effect, and reduce overeating on unhealthy snacks when hungry. Methods: 110 undergraduate p

  11. The Revolution Fails Here: Cherrie Moraga's "The Hungry Woman" as a Mexican Medea

    Science.gov (United States)

    Ybarra, Patricia

    2008-01-01

    This essay argues that Moraga's recent play, "The Hungry Woman," is a meditation on the failure of the "Queer Aztlan" project articulated in 1993 as part of her collection "The Last Generation." It views the play through the lens of Mexican dramatic structures and historiography, explicating how Moraga interrogates the possibilities of indigenismo…

  12. A brief mindfulness intervention reduces unhealthy eating when hungry, but not the portion size effect

    NARCIS (Netherlands)

    Marchiori, D.R.; Papies, E.K.

    2014-01-01

    Objective: The present research examined the effects of a mindfulness-based intervention to foster healthy eating. Specifically, we tested whether a brief mindfulness manipulation can prevent the portion size effect, and reduce overeating on unhealthy snacks when hungry. Methods: 110 undergraduate

  13. Reading: Making It Personal Again--Now Serving PIE to Hungry Readers

    Science.gov (United States)

    Hobbs, Nancy; Oleynik, Myra; Sacco, Kristen

    2009-01-01

    Something wonderful happens when children are asked to choose their own books and are given ample time to read and discuss them. They become hungry readers with an appetite for books! This simple strategy was the basis for developing the program known as PIE (Personalized Independent Enrichment) and its recipe for reading success. The goal of the…

  14. The Revolution Fails Here: Cherrie Moraga's "The Hungry Woman" as a Mexican Medea

    Science.gov (United States)

    Ybarra, Patricia

    2008-01-01

    This essay argues that Moraga's recent play, "The Hungry Woman," is a meditation on the failure of the "Queer Aztlan" project articulated in 1993 as part of her collection "The Last Generation." It views the play through the lens of Mexican dramatic structures and historiography, explicating how Moraga interrogates the possibilities of indigenismo…

  15. Impact of Growth Hormone on Adult Bone Quality in Turner Syndrome: A HR-pQCT Study.

    Science.gov (United States)

    Nour, Munier A; Burt, Lauren A; Perry, Rebecca J; Stephure, David K; Hanley, David A; Boyd, Steven K

    2016-01-01

    Women with Turner syndrome (TS) are known to be at risk of osteoporosis. While childhood growth hormone (GH) treatment is common in TS, the impact of this therapy on bone health has been poorly understood. The objective of this study was to determine the influence of childhood GH treatment on adult bone quality in women with TS. 28 women aged 17-45 with confirmed TS (12 GH-treated) agreed to participate in this cross-sectional study. Dual X-ray absorptiometry (DXA) of lumbar spine, hip, and radius and high-resolution peripheral quantitative computed tomography (HR-pQCT) scans of the radius and tibia were used to determine standard morphological and micro-architectural parameters of bone health. Finite element (FE) analysis and polar moment of inertia (pMOI) were used to estimate bone strength. GH-treated subjects were +7.4 cm taller (95% CI 2.5-12.3 cm, p = 0.005). DXA-determined areal BMD of hip, spine, and radius was similar between treatment groups. Both tibial and radial total bone areas were greater among GH-treated subjects (+20.4 and +21.2% respectively, p < 0.05), while other micro-architectural results were not different between groups. pMOI was significantly greater among GH-treated subjects (radius +35.0%, tibia +34.0%, p < 0.05). Childhood GH treatment compared to no treatment in TS was associated with an increased height, larger bones, and greater pMOI, while no significant difference in DXA-derived BMD, HR-pQCT micro-architectural parameters, or FE-estimated bone strength was detected. The higher pMOI and greater bone size may confer benefit for fracture reduction in these GH-treated patients.

  16. Prevalence of Оsteoporosis and Low Bone Mineral Density in Ukrainian Women with Obesity and Metabolic Syndrome

    Directory of Open Access Journals (Sweden)

    V.V. Povoroznyuk

    2016-06-01

    Full Text Available Objective: to determine the incidence of osteoporosis and low bone mineral density (BMD in Ukrainian women with obesity and metabolic syndrome. Materials and methods. The study involved 1,605 persons, whose mean age was 62.31 ± 9.52 years, the average body mass — 76.48 ± 14.65 kg. All women were in postmenopausal period. Patients were divided into three groups. First group (800 people included women without obesity, second one (572 persons — with obesity. Third group (233 people consisted of patients with metabolic syndrome. BMD of lumbar spine and femoral neck was measured by dual-energy X-ray absortiometer (Prodigy, 2005. Conclusion about normal BMD, osteoporosis and low BMD was made according to the ISCD (2007 criteria for official position (updated in 2015. Results. The incidence of osteoporosis and low BMD in women from the second and third groups were compared with those in the first group. We have found no significant differences in performance of BMD between patients of second and third groups unlike the first group. Conclusions. In patients with obesity and metabolic syndrome, the prevalence of osteoporosis and low BMD is significantly lower as compared with the group of women without obesity, and metabolic syndrome and obesity have equally positive effect on bone mineral density.

  17. Marfan Syndrome

    Science.gov (United States)

    Marfan syndrome is a disorder that affects connective tissue. Connective tissues are proteins that support skin, bones, ... fibrillin. A problem with the fibrillin gene causes Marfan syndrome. Marfan syndrome can be mild to severe, ...

  18. Diagnostic management of patients with SAPHO syndrome: use of MR imaging to guide bone biopsy at CT for microbiological and histological work-up

    Energy Technology Data Exchange (ETDEWEB)

    Kirchhoff, Timm; Rosenthal, Herbert; Prokop, Mathias; Chavan, Ajay; Galanski, Michael [Department of Diagnostic Radiology, Hannover Medical School, Carl-Neuberg Strasse 1, 30625, Hannover (Germany); Merkesdal, Sonja; Wagner, Annette; Zeidler, Henning [Department of Rheumatology, Hannover Medical School, Carl-Neuberg Strasse 1, 30625, Hannover (Germany); Mai, Uwe [Institut fuer Med. Mikrobiologie und Hygiene, Haltenhoffstrasse 41, 30167, Hannover (Germany); Hammer, Michael [Klinik fuer Rheumatologie, St. Josef-Stift, 48324, Sendenhorst (Germany)

    2003-10-01

    Propionibacterium acnes (P. acnes) is suspected to be involved in the pathophysiology of SAPHO syndrome, since it has been isolated repeatedly through open surgical bone biopsy. This study demonstrates the role of MRI in identifying inflamed bone areas in patients with SAPHO syndrome and the role of CT-guided bone biopsies in obtaining samples from these areas for microbiological and histopathological investigations, thus obviating open surgery. Fourteen consecutive patients with SAPHO syndrome were investigated by MRI to identify acute inflammatory changes in hyperostotic periarticular bone. The CT-guided biopsies for microbiological investigations were taken from the areas identified. Patients positive for P. acnes were started on long-term antibiotic therapy according to antibiotic susceptibility. On MRI the inflammatory changes appeared as hyperintense areas on fat-saturated T2 fast-spin-echo (FSE) images and showed signal increase on fat-saturated T1 SE images after Gd-DTPA. With MR localization CT-guided bone biopsies yielded P. acnes in 8 patients. No bacteria could be isolated from the remaining 6 patients. Acute inflammatory bone changes in SAPHO syndrome are well localized by MRI. With MR localization, CT-guided bone biopsies offer a minimally invasive alternative to open surgery in the detection of. P. acnes leading to the institution of a specific antibiotic therapy. (orig.)

  19. Bone Marrow-Derived Stem Cell (BMDSC transplantation improves fertility in a murine model of Asherman's syndrome.

    Directory of Open Access Journals (Sweden)

    Feryal Alawadhi

    Full Text Available Asherman's Syndrome is characterized by intrauterine adhesions or fibrosis resulting as a consequence of damage to the basal layer of endometrium and is associated with infertility due to loss of normal endometrium. We have previously shown that bone marrow derived stem cells (BMDSCs engraft the endometrium in mice and humans and Ischemia/reperfusion injury of uterus promoted BMDSCs migration to the endometrium; however, the role of BMDSCs in Asherman's syndrome has not been characterized. Here a murine model of Asherman's syndrome was created by traumatizing the uterus. We evaluate stem cell recruitment and pregnancy after BMDSCs transplantation in a model of Asherman's syndrome. In the Asheman's syndrome model, after BMDSC transplant, the Y chromosome bearing CD45-cells represented less than 0.1% of total endometrial cells. Twice the number of Y+CD45- cells was identified in the damaged uterus compared to the uninjured controls. There was no significant difference between the damaged and undamaged uterine horns in mice that received injury to a single horn. In the BMDSC transplant group, 9 of the 10 mice conceived, while only 3 of 10 in the non-transplanted group conceived (Chi-Square p = 0.0225; all mice in an uninjured control group conceived. The time to conception and mean litter size were not different between groups. Taken together, BMDSCs are recruited to endometrium in response to injury. Fertility improves after BMDSC transplant in Asherman's Syndrome mice, demonstrating a functional role for these cells in uterine repair. BMDSC transplantation is a potential novel treatment for Asherman's Syndrome and may also be useful to prevent Asherman's syndrome after uterine injury.

  20. Additional Detection of Multiple Osteomas in a Patient with Gardner's Syndrome by Bone SPECT/CT

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Woo Hyoung; Kim, Daeweung; Kim, Chang Guhn; Kim, Myoung Hyoun [Wonkwang Univ. School of Medicine, Iksan (Korea, Republic of)

    2013-12-15

    Familial adenomatous polyposis (FAP) is an autosomal dominant disorder which generally develops numerous polyps in the colon and rectum during the second decade of life. Gardner's syndrome is a variant of FAP which has multiple osteomas, dental abnormalities, and fibromas, with incidence ranging between 1 in 4,000 and 1 in 40,000, depending on the region. We present the case of a 35-year-old man referred to our department for bone scintigraphy who was shown to have multiple colon polyps and nuchal type fibroma. In this patient, planar image showed intensely increased uptakes of bone agent in the maxilla and mandible, which are typical findings of Gardner's syndrome. Single photon emission computed tomography/computed tomography (SPECT/CT) was acquired to accurately identify and locate abnormal uptakes detected on planar images. SPECT/CT showed numerous osteomas in the maxilla and mandible where intense uptakes of bone agent were seen. Mildly asymmetrical, focally increased uptake in the superomedial aspect of the left orbit on anterior planar image was shown to be a fontal sinus osteoma on SPECT/CT. Enhanced sensitivity of detecting lesions of SPECT/CT superior to planar scintigraphy has been reported in previous studies. In this report, additional osteomas of sphenoidal and ethmoidal sinuses, which were not seen on planar scintigraphy, were detected by SPECT/CT. This case emphasizes that nuclear physicians should be aware of the typical findings of bone scintigraphy for Gardner's syndrome and also that SPECT/CT could be helpful to diagnose additional lesions not seen on planar images.

  1. Effects of a metabolic syndrome induced by a fructose-rich diet on bone metabolism in rats.

    Science.gov (United States)

    Felice, Juan Ignacio; Gangoiti, María Virginia; Molinuevo, María Silvina; McCarthy, Antonio Desmond; Cortizo, Ana María

    2014-02-01

    The aims of this study were: first, to evaluate the possible effects of a fructose rich diet (FRD)-induced metabolic syndrome (MS) on different aspects of long bone histomorphometry in young male rats; second, to investigate the effects of this diet on bone tissue regeneration; and third, to correlate these morphometric alterations with changes in the osteogenic/adipogenic potential and expression of specific transcription factors, of marrow stromal cells (MSC) isolated from rats with fructose-induced MS. MS was induced in rats by treatment with a FRD for 28 days. Halfway through treatment, a parietal wound was made and bone healing was evaluated 14 days later. After treatments, histomorphometric analysis was performed in dissected femoral and parietal bones. MSC were isolated from the femora of control or fructose-treated rats and differentiated either to osteoblasts (evaluated by type 1 collagen, Alkaline phosphatase and extracellular nodule mineralization) or to adipocytes (evaluated by intracellular triglyceride accumulation). Expression of Runx2 and PPARγ was assessed by Western blot. Fructose-induced MS induced deleterious effects on femoral metaphysis microarchitecture and impaired bone regeneration. Fructose treatment decreased the osteogenic potential of MSC and Runx2 expression. In addition, it increased the adipogenic commitment of MSC and PPARγ expression. Fructose-induced MS is associated with deleterious effects on bone microarchitecture and with a decrease in bone repair. These alterations could be due to a deviation in the adipogenic/osteogenic commitment of MSC, probably by modulation of the Runx2/PPARγ ratio. Copyright © 2014 Elsevier Inc. All rights reserved.

  2. Myelodysplastic syndrome and pancytopenia responding to treatment of hyperthyroidism: Peripheral blood and bone marrow analysis before and after antihormonal treatment

    Directory of Open Access Journals (Sweden)

    Akoum Riad

    2007-01-01

    Full Text Available Hematological disorders, especially single lineage abnormalities, have been described in hyperthyroidism. Pancytopenia has been reported, without myelodysplastic syndrome or megaloblastic anemia. We studied the peripheral blood smear and the bone marrow aspiration and biopsy of a 65-year-old lady, who presented with pancytopenia and thyrotoxicosis due to multinodular goiter. She denied ingesting any toxic medication. At diagnosis: WBC: 2500 /ul, platelets count: 58.000/ul, hemoglobin level: 6.5 g/dl. The bone marrow was moderately hyper cellular with moderate myelofibrosis and arrested hematopoiesis. The TSH level was: 0.02 mIU/l (N: 0.25-4, the fT3: 18 pmol/l (N: 4-10, the routine serum immunologic tests were negative. After treatment with single agent neomercazole (carbimazole, complete recovery of the blood cell counts was obtained within one month. The bone marrow aspiration, performed three months after starting therapy, showed normal hematopoiesis. The thyroid function tests returned to normal and no autoimmune reaction was detected on routine serum testing. Persistent response was observed six months later under medical treatment. The patient has refused surgical treatment. Reversible myelodysplastic syndrome may also be part of the changes in blood picture of patients with hyperthyroidism, probably due to direct toxic mechanism.

  3. Hungry Horse Dam Fisheries Mitigation Implementation Plan, 1990-2003 Progress (Annual) Report.

    Energy Technology Data Exchange (ETDEWEB)

    Montana Department of Fish, Wildlife and Parks; Confederated Salish and Kootenai Tribes

    1993-03-10

    In this document the authors present mitigation implementation activities to protect and enhance resident fish and aquatic habitat affected by the construction and operation of Hungry Horse Dam. This plan only addresses non-operational actions (mitigation measures that do not affect dam operation) described in the 'Fisheries Mitigation Plan for Losses Attributable to the Construction and Operation of Hungry Horse Dam' (Mitigation Plan) submitted to the Northwest Power Planning Council (Council) in March 1991 and in accordance with subsequent Council action on that Mitigation Plan. Operational mitigation was deferred for consideration under the Columbia Basin System Operation Review (SOR) process. This document represents an implementation plan considered and conditionally approved by the Council in March of 1993.

  4.  Transient Osteoporosis of the Hip/Bone Marrow Edema Syndrome with Soft Tissue Involvement: A Case Report

    Directory of Open Access Journals (Sweden)

    Mohamad A. Al-Tanni

    2011-09-01

    Full Text Available  Transient osteoporosis of the hip (TOH is a rare condition mainly affecting pregnant women in their third trimester and middle aged men. We report a case of TOH/Bone marrow edema syndrome in pregnancy with involvement of the surrounding soft tissues on magnetic resonance image, which has not been previously reported. The presence of such edema in the soft tissues may help to differentiate this condition from early avascular necrosis of the hip, and may also provide an insight into the pathogenesis of the condition. The reported patient was treated conservatively and fully recovered.

  5. Guillain-Barré syndrome: report of two rare clinical cases occurring after allergenic bone grafting in oral maxillofacial surgery

    Science.gov (United States)

    Cicciù, Marco; Herford, Alan Scott; Bramanti, Ennio; Maiorana, Carlo

    2015-01-01

    Guillaine-Barré Syndrome (GBS), also known as post-infectious polyneuropathy or acute idiopathic polyneuritis, is an infrequent disorder of the peripheral nervous system. The cause of GBS is unknown. It has been associated in the past with microbial infections, vaccinations, surgical procedures and debilitation of the patient. The classic signs of GBS occurring in the two patients being reported here are muscle weakness, motor and sensory impairment and ascending paralysis with respiratory involvement. The documented cases involved GBS syndrome following oral and maxillofacial surgery in which allogeneic-banked freeze-dried bone have been utilized along with autogenous grafting. There were no incidents of viral infection, vaccination or the other prodromal incidents involved in these cases. It is believed that the description of these two cases would be of interest in that it may stimulate the reporting of similar anecdotal occurrences by other surgeons. Both patients fully recovered from the GBS and are presently alive and well. PMID:26261679

  6. A brief mindfulness intervention reduces unhealthy eating when hungry, but not the portion size effect.

    Science.gov (United States)

    Marchiori, David; Papies, Esther K

    2014-04-01

    The present research examined the effects of a mindfulness-based intervention to foster healthy eating. Specifically, we tested whether a brief mindfulness manipulation can prevent the portion size effect, and reduce overeating on unhealthy snacks when hungry. 110 undergraduate participants (MAge=20.9±2.3; MBMI=22.3±2.5) were served a small or a large portion of chocolate chip cookies after listening to an audio book or performing a mindfulness exercise (i.e., body scan). Current level of hunger was assessed unobtrusively on a visual analog scale before the eating situation. Calorie intake from chocolate chip cookies. When presented with a large compared to a small portion, participants consumed more cookies (+83kcal). This was not affected by the mindfulness intervention or by hunger. However, while control participants ate more unhealthy food when hungry than when not hungry (+67kcal), participants in the mindfulness condition did not (+1kcal). Findings confirm the prevalence and robustness of the portion size effect and suggest that it may be independent from awareness of internal cues. Prevention strategies may benefit more from targeting awareness of the external environment. However, mindfulness-based interventions may be effective to reduce effects of hunger on unhealthy food consumption. Copyright © 2013 Elsevier Ltd. All rights reserved.

  7. An Energy Aware Adaptive Sampling Algorithm for Energy Harvesting WSN with Energy Hungry Sensors.

    Science.gov (United States)

    Srbinovski, Bruno; Magno, Michele; Edwards-Murphy, Fiona; Pakrashi, Vikram; Popovici, Emanuel

    2016-03-28

    Wireless sensor nodes have a limited power budget, though they are often expected to be functional in the field once deployed for extended periods of time. Therefore, minimization of energy consumption and energy harvesting technology in Wireless Sensor Networks (WSN) are key tools for maximizing network lifetime, and achieving self-sustainability. This paper proposes an energy aware Adaptive Sampling Algorithm (ASA) for WSN with power hungry sensors and harvesting capabilities, an energy management technique that can be implemented on any WSN platform with enough processing power to execute the proposed algorithm. An existing state-of-the-art ASA developed for wireless sensor networks with power hungry sensors is optimized and enhanced to adapt the sampling frequency according to the available energy of the node. The proposed algorithm is evaluated using two in-field testbeds that are supplied by two different energy harvesting sources (solar and wind). Simulation and comparison between the state-of-the-art ASA and the proposed energy aware ASA (EASA) in terms of energy durability are carried out using in-field measured harvested energy (using both wind and solar sources) and power hungry sensors (ultrasonic wind sensor and gas sensors). The simulation results demonstrate that using ASA in combination with an energy aware function on the nodes can drastically increase the lifetime of a WSN node and enable self-sustainability. In fact, the proposed EASA in conjunction with energy harvesting capability can lead towards perpetual WSN operation and significantly outperform the state-of-the-art ASA.

  8. Epstein-Barr virus-related post-transplant lymphoproliferative disorder occurring after bone marrow transplantation for aplastic anemia in Down's syndrome.

    Science.gov (United States)

    Furuya, Aya; Ishida, Mitsuaki; Hodohara, Keiko; Yoshii, Miyuki; Okuno, Hiroko; Horinouchi, Akiko; Nakanishi, Ryota; Harada, Ayumi; Iwai, Muneo; Yoshida, Keiko; Kagotani, Akiko; Yoshida, Takashi; Okabe, Hidetoshi

    2014-01-01

    It is well established that Down's syndrome exhibits a predisposition to development of leukemia, however, association between aplastic anemia and Down's syndrome is exceptional. Herein, we describe a case of aplastic anemia occurring in Down's syndrome following post-transplant lymphoproliferative disorder (PTLD) after bone marrow transplantation (BMT). A 27-year-old Japanese male with Down's syndrome presented with a headache. Laboratory tests revealed severe pancytopenia, and bone marrow biopsy demonstrated hypocellular bone marrow with decrease of trilineage cells, which led to a diagnosis of aplastic anemia. One year after diagnosis, he was incidentally found to have an anterior mediastinal tumor, which was histopathologically diagnosed as seminoma. Subsequently, he received BMT from a female donor, and engraftment was observed. Three months after transplantation, he experienced cough and high fever. Biopsy specimen from the lung revealed diffuse proliferation of large-sized lymphoid cells expressing CD20 and EBER. These lymphoid cells had XY chromosomes. Thus, a diagnosis of EBV-associated PTLD was made. This is the seventh documented case of aplastic anemia occurring in Down's syndrome. Association between aplastic anemia and Down's syndrome has not been established, therefore, additional clinicopathological studies are needed. Moreover, this is the first case to undergo BMT for aplastic anemia in Down's syndrome. Although engraftment was observed, he developed EBV-positive PTLD. The neoplastic cells of the present case were considered to be of recipient origin, although the majority of PTLD cases with BMT are of donor origin.

  9. Bone mineral density determinations by dual-energy x-ray absorptiometry in the management of patients with Marfan syndrome--some factors which affect the measurement.

    Science.gov (United States)

    Giampietro, Philip F; Peterson, Margaret G E; Schneider, Robert; Davis, Jessica G; Burke, Stephen W; Boachie-Adjei, Oheneba; Mueller, Charles M; Raggio, Cathleen L

    2007-02-01

    Reduced bone mineral density (BMD) was sporadically reported in patients with Marfan syndrome. This may or may not place the Marfan patient at increased risk for bone fracture. In comparing the BMDs of our patients with those reported in the literature, it seemed that agreement between values, and hence the degree of osteoporosis or osteopenia reported, was dependent on the instrumentation used. The objective of this study was to statistically assess this impression. Bone mineral density measurements from our previously published study of 30 adults with Marfan syndrome performed on a Lunar DPXL machine were compared with studies published between 1993-2000 measured using either Lunar or Hologic bone densitometry instruments. The differences of our measurements compared with those made on other Lunar machines were not statistically significant, but did differ significantly with published results from Hologic machines (P density determinations will be required along with considerations of height, obesity, age, and sex.

  10. Evaluation of the temporal bone malformations by HRCT in 17 patients with Treacher Collins Syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Chihara, Yasuhiro [Kanto Medical Center NTT EC, Tokyo (Japan); Takegoshi, Hideki [Saitama Medical School, Moroyama (Japan); Kaga, Kimitaka [Tokyo Univ. (Japan). Faculty of Medicine

    2003-05-01

    Patients with Treacher Collins Syndrome have severe middle ear malformations. We have studied high-resolution computed tomography (HRCT) of seventeen patients with Treacher Collins Syndrome by using Jahrsdoerfer's grading system. Four patients underwent canalplasty. The appearance of the auricle (which we evaluated by using Marx's grading system) was correlated with the development of the middle ear in patients with Treacher Collins Syndrome. The four cases who underwent canalplasty were using a canal type hearing aid. (author)

  11. Clinical follow-up and histopathology of the temporal bones in Nathalie syndrome.

    NARCIS (Netherlands)

    Heer, A.M. de; Merchant, S.N.; Kammeraad, J.A.; Cruysberg, J.R.M.; Huygen, P.L.M.; Cremers, C.W.R.J.

    2012-01-01

    The Nathalie syndrome (OMIM 255990) comprises a combination of features that do not resemble any other known syndrome and is as such an independent, rare entity. It is characterized by sensorineural hearing impairment, juvenile cataract, spinal muscular atrophy, skeletal abnormalities, retardation o

  12. Increased bone formation and decreased osteocalcin expression induced by reduced Twist dosage in Saethre-Chotzen syndrome.

    Science.gov (United States)

    Yousfi, M; Lasmoles, F; Lomri, A; Delannoy, P; Marie, P J

    2001-05-01

    The Saethre-Chotzen syndrome is characterized by premature fusion of cranial sutures resulting from mutations in Twist, a basic helix-loop-helix (bHLH) transcription factor. We have identified Twist target genes using human mutant calvaria osteoblastic cells from a child with Saethre-Chotzen syndrome with a Twist mutation that introduces a stop codon upstream of the bHLH domain. We observed that Twist mRNA and protein levels were reduced in mutant cells and that the Twist mutation increased cell growth in mutant osteoblasts compared with control cells. The mutation also caused increased alkaline phosphatase and type I collagen expression independently of cell growth. During in vitro osteogenesis, Twist mutant cells showed increased ability to form alkaline phosphatase-positive bone-like nodular structures associated with increased type I collagen expression. Mutant cells also showed increased collagen synthesis and matrix production when cultured in aggregates, as well as an increased capacity to form a collagenous matrix in vivo when transplanted into nude mice. In contrast, Twist mutant osteoblasts displayed a cell-autonomous reduction of osteocalcin mRNA expression in basal conditions and during osteogenesis. The data show that genetic deletion of Twist causing reduced Twist dosage increases cell growth, collagen expression, and osteogenic capability, but inhibits osteocalcin gene expression. This provides one mechanism that may contribute to the premature cranial ossification induced by deletion of the bHLH Twist domain in Saethre-Chotzen syndrome.

  13. Hungry Horse Mitigation Plan; Fisheries Mitigation Plan for Losses Attributable to the Construction and Operation of Hungry Horse Dam, 1990-2003 Technical Report.

    Energy Technology Data Exchange (ETDEWEB)

    Fraley, John J.; Marotz, Brian L. (Montana Department of Fish, Wildlife and Parks, Helena, MT); DosSantos, Joseph M. (Confederated Salish and Kootenai Tribes of the Flathead Nation, Pablo, MT)

    2003-04-01

    In this document we present fisheries losses, mitigation alternatives, and recommendations to protect, mitigate, and enhance resident fish and aquatic habitat affected by the construction and operation of Hungry Horse Dam. This plan addresses six separate program measures in the 1987 Columbia Basin Fish and Wildlife Program. We designed the plan to be closely coordinated in terms of dam operations, funding, and activities with the Kerr Mitigation Plan presently before the Federal Energy Regulatory Commission. This document represents a mitigation plan for consideration by the Northwest Power Planning Council process; it is not an implementation plan. Flathead Lake is one of the cleanest lakes of its size in the world. The exceptional water quality and unique native fisheries make the Flathead Lake/River system extremely valuable to the economy and quality of life in the basin. The recreational fishery in Flathead Lake has an estimated value of nearly eight million dollars annually. This mitigation process represents our best opportunity to reduce the impacts of hydropower in this valuable aquatic system and increase angling opportunity. We based loss estimates and mitigation alternatives on an extensive data base, agency reports, nationally and internationally peer-reviewed scientific articles, and an innovative biological model for Hungry Horse Reservoir and the Flathead River. We conducted an extensive, 14-month scoping and consultation process with agency representatives, representatives of citizen groups, and the general public. This consultation process helped identify issues, areas of agreement, areas of conflict, and advantages and disadvantages of mitigation alternatives. The results of the scoping and consultation process helped shape our mitigation plan. Our recommended plan is based firmly on principles of adaptive management and recognition of biological uncertainty. After we receive direction from the NPPC, we will add more detailed hypotheses and

  14. Development of a low grade lymphoma in the mastoid bone in a patient with atypical Cogan’s syndrome: A case report

    Directory of Open Access Journals (Sweden)

    Chris Kalogeropoulos

    2015-05-01

    Full Text Available Cogan’s syndrome is a rare disorder characterized by ocular and audiovestibular manifestations in its typical form and caries a wide variety of atypical manifestations. It is considered as an autoimmune disease. We present the first case in the literature of a 67 year old woman with the development of low grade non-Hodgkin lymphoma (NHL in the mastoid bone in a pre-existing history of atypical Cogan’s syndrome. The anatomical development of NHL was to a “target” organ of Cogan’s syndrome, which is the inner ear.

  15. Cytokine expression patterns and mesenchymal stem cell karyotypes from the bone marrow microenvironment of patients with myelodysplastic syndromes

    Energy Technology Data Exchange (ETDEWEB)

    Xiong, H.; Yang, X.Y.; Han, J.; Wang, Q.; Zou, Z.L. [Department of Hematology, Shanghai Clinical Research Center, Chinese Academy of Sciences, Shanghai Xuhui District Central Hospital, Shanghai (China)

    2015-01-20

    The purpose of this study was to explore cytokine expression patterns and cytogenetic abnormalities of mesenchymal stem cells (MSCs) from the bone marrow microenvironment of Chinese patients with myelodysplastic syndromes (MDS). Bone marrow samples were obtained from 30 cases of MDS (MDS group) and 30 healthy donors (control group). The expression pattern of cytokines was detected by customized protein array. The karyotypes of MSCs were analyzed using fluorescence in situ hybridization. Compared with the control group, leukemia inhibitory factor, stem cell factor (SCF), stromal cell-derived factor (SDF-1), bone morphogenetic protein 4, hematopoietic stem cell (HSC) stimulating factor, and transforming growth factor-β in the MDS group were significantly downregulated (P<0.05), while interferon-γ (IFN-γ), tumor necrosis factor-α (TNF-α), and programmed death ligand (B7-H1) were significantly upregulated (P<0.05). For chromosome abnormality analysis, the detection rate of abnormal karyotypes (+8, -8, -20, 20q-, -Y, -7, 5q-) was 30% in the MDS group and 0% in the control group. In conclusion, the up- and downregulated expression of these cytokines might play a key role in the pathogenesis of MDS. Among them, SCF and SDF-1 may play roles in the apoptosis of HSCs in MDS; and IFN-γ, TNF-α, and B7-H1 may be associated with apoptosis of bone marrow cells in MDS. In addition, the abnormal karyotypes might be actively involved in the pathogenesis of MDS. Further studies are required to determine the role of abnormal karyotypes in the occurrence and development of MDS.

  16. In vivo measurements of the T1 relaxation processes in the bone marrow in patients with myelodysplastic syndrome. A magnetic resonance imaging study

    DEFF Research Database (Denmark)

    Jensen, K E; Nielsen, H; Thomsen, C

    1989-01-01

    Nine patients with myelodysplastic syndrome (MDS) were examined with magnetic resonance imaging and in vivo T1 relaxation time measurements of the vertebral bone marrow in a 1.5 tesla whole body scanner. Two patients underwent transformation to acute myeloid leukemia and were evaluated at follow...

  17. Fibrous dysplasia of bone associated with soft-tissue myxomas as well as an intra-osseous myxoma in a woman with Mazabraud's syndrome: a case report

    NARCIS (Netherlands)

    Wal, W.A. van der; Unal, H.; Rooy, J.W.J. de; Flucke, U.E.; Veth, R.P.H.

    2011-01-01

    ABSTRACT: INTRODUCTION: Mazabraud's syndrome is a rare but well-described disorder characterized by fibrous dysplasia in single or multiple bones associated with one or more soft-tissue myxomas. In this report, we describe what is, to the best of our knowledge, the first case involving an intra-osse

  18. An Energy Aware Adaptive Sampling Algorithm for Energy Harvesting WSN with Energy Hungry Sensors

    Directory of Open Access Journals (Sweden)

    Bruno Srbinovski

    2016-03-01

    Full Text Available Wireless sensor nodes have a limited power budget, though they are often expected to be functional in the field once deployed for extended periods of time. Therefore, minimization of energy consumption and energy harvesting technology in Wireless Sensor Networks (WSN are key tools for maximizing network lifetime, and achieving self-sustainability. This paper proposes an energy aware Adaptive Sampling Algorithm (ASA for WSN with power hungry sensors and harvesting capabilities, an energy management technique that can be implemented on any WSN platform with enough processing power to execute the proposed algorithm. An existing state-of-the-art ASA developed for wireless sensor networks with power hungry sensors is optimized and enhanced to adapt the sampling frequency according to the available energy of the node. The proposed algorithm is evaluated using two in-field testbeds that are supplied by two different energy harvesting sources (solar and wind. Simulation and comparison between the state-of-the-art ASA and the proposed energy aware ASA (EASA in terms of energy durability are carried out using in-field measured harvested energy (using both wind and solar sources and power hungry sensors (ultrasonic wind sensor and gas sensors. The simulation results demonstrate that using ASA in combination with an energy aware function on the nodes can drastically increase the lifetime of a WSN node and enable self-sustainability. In fact, the proposed EASA in conjunction with energy harvesting capability can lead towards perpetual WSN operation and significantly outperform the state-of-the-art ASA.

  19. Molecular Characterization of Three Canine Models of Human Rare Bone Diseases: Caffey, van den Ende-Gupta, and Raine Syndromes.

    Science.gov (United States)

    Hytönen, Marjo K; Arumilli, Meharji; Lappalainen, Anu K; Owczarek-Lipska, Marta; Jagannathan, Vidhya; Hundi, Sruthi; Salmela, Elina; Venta, Patrick; Sarkiala, Eva; Jokinen, Tarja; Gorgas, Daniela; Kere, Juha; Nieminen, Pekka; Drögemüller, Cord; Lohi, Hannes

    2016-05-01

    One to two percent of all children are born with a developmental disorder requiring pediatric hospital admissions. For many such syndromes, the molecular pathogenesis remains poorly characterized. Parallel developmental disorders in other species could provide complementary models for human rare diseases by uncovering new candidate genes, improving the understanding of the molecular mechanisms and opening possibilities for therapeutic trials. We performed various experiments, e.g. combined genome-wide association and next generation sequencing, to investigate the clinico-pathological features and genetic causes of three developmental syndromes in dogs, including craniomandibular osteopathy (CMO), a previously undescribed skeletal syndrome, and dental hypomineralization, for which we identified pathogenic variants in the canine SLC37A2 (truncating splicing enhancer variant), SCARF2 (truncating 2-bp deletion) and FAM20C (missense variant) genes, respectively. CMO is a clinical equivalent to an infantile cortical hyperostosis (Caffey disease), for which SLC37A2 is a new candidate gene. SLC37A2 is a poorly characterized member of a glucose-phosphate transporter family without previous disease associations. It is expressed in many tissues, including cells of the macrophage lineage, e.g. osteoclasts, and suggests a disease mechanism, in which an impaired glucose homeostasis in osteoclasts compromises their function in the developing bone, leading to hyperostosis. Mutations in SCARF2 and FAM20C have been associated with the human van den Ende-Gupta and Raine syndromes that include numerous features similar to the affected dogs. Given the growing interest in the molecular characterization and treatment of human rare diseases, our study presents three novel physiologically relevant models for further research and therapy approaches, while providing the molecular identity for the canine conditions.

  20. A brief mindfulness intervention reduces unhealthy eating when hungry, but not the portion size effect

    OpenAIRE

    Marchiori, D.R.; Papies, E.K.

    2014-01-01

    Objective: The present research examined the effects of a mindfulness-based intervention to foster healthy eating. Specifically, we tested whether a brief mindfulness manipulation can prevent the portion size effect, and reduce overeating on unhealthy snacks when hungry. Methods: 110 undergraduate participants (MAge = 20.9 ± 2.3; MBMI = 22.3 ± 2.5) were served a small or a large portion of chocolate chip cookies after listening to an audio book or performing a mindfulness exercise (i.e., body...

  1. 林丽The very hungry caterpillar绘本教学赏析

    Institute of Scientific and Technical Information of China (English)

    张颜明

    2015-01-01

    绘本(Pielure Book)是指以绘画为主体,并配有简练文字的书籍。它因丰富多彩的图画和动人的故事情节深受学生喜爱。在日常教学中,教师应如何进行绘本教学?本文以南京市林.丽老师.的观摩课“The very hungry caterpillar”为例,探讨小学英语绘本教学的有效途径。

  2. Correlation of MRI and histomorphological findings in bone marrow oedema syndrome of the hip

    Energy Technology Data Exchange (ETDEWEB)

    Hofmann, S. [Orthopaedic University Clinic, Vienna (Austria)]|[Bone and Biomaterial Research Lab. of the Histology-Embryology Inst., Vienna (Austria); Kramer, J. [MR Inst. of the University, Vienna (Austria); Leder, K. [2. General Dept., Orthopaedic Hospital Speising, Vienna (Austria); Neuhold, A. [Inst. for Imaging Diagnostics, Rudolfinerhaus Hospital, Vienna (Austria); Plenk, H. Jr. [Bone and Biomaterial Research Lab. of the Histology-Embryology Inst., Vienna (Austria); Engel, A. [Orthopaedic University Clinic, Vienna (Austria)

    1993-10-01

    In 15 patients (16 hip joints) we found the clinical and radiological signs of BMOS. On T1-weighted MRI images areas of low signal intensity could be observed in the head, neck and the intertrochanteric region of the femur in various extensions. These areas showed a significant increase in signal intensity on the T2-weighted images. Because pain was resistant to conservative therapy all these patients were treated by core decompression of the femoral head in a prospective study. Bone cores were evaluated histologically using undecalcified sections and quantitative microradiography. The existence of intramedullary oedema in exactly the regions exhibiting the MRI pattern of bone marrow oedema was verified histologically; however, bone and marrow changes similar to those of early avascular necrosis (AVN) were also visible. (orig.)

  3. Genetic Associations in Acquired Immune-Mediated Bone Marrow Failure Syndromes: Insights in Aplastic Anemia and Chronic Idiopathic Neutropenia

    Directory of Open Access Journals (Sweden)

    Irene Mavroudi

    2012-01-01

    Full Text Available Increasing interest on the field of autoimmune diseases has unveiled a plethora of genetic factors that predispose to these diseases. However, in immune-mediated bone marrow failure syndromes, such as acquired aplastic anemia and chronic idiopathic neutropenia, in which the pathophysiology results from a myelosuppressive bone marrow microenvironment mainly due to the presence of activated T lymphocytes, leading to the accelerated apoptotic death of the hematopoietic stem and progenitor cells, such genetic associations have been very limited. Various alleles and haplotypes of human leucocyte antigen (HLA molecules have been implicated in the predisposition of developing the above diseases, as well as polymorphisms of inhibitory cytokines such as interferon-γ, tumor necrosis factor-α, and transforming growth factor-β1 along with polymorphisms on molecules of the immune system including the T-bet transcription factor and signal transducers and activators of transcription. In some cases, specific polymorphisms have been implicated in the outcome of treatment on those patients.

  4. Lower bone turnover markers in metabolic syndrome and diabetes: the population-based Study of Health in Pomerania.

    Science.gov (United States)

    Lerchbaum, E; Schwetz, V; Nauck, M; Völzke, H; Wallaschofski, H; Hannemann, A

    2015-05-01

    Accumulating evidence demonstrates an important interaction between bone and energy metabolism. We aimed to study the associations of three bone turnover markers (BTM: osteocalcin, beta-crosslaps, procollagen type 1 N-terminal propeptide) as well as of 25-hydroxyvitamin D and parathyroid hormone with metabolic syndrome (MetS) or type 2 diabetes mellitus (T2DM) in a large population-based cohort. This cross-sectional study comprised 2671 adult men and women participating in the first follow-up of the population-based Study of Health in Pomerania (SHIP-1). Multivariable logistic regression analyses were performed to assess sex-specific associations between the BTMs, 25-hydroxyvitamin D or parathyroid hormone and metabolic disease. All models were adjusted for age, body mass index, smoking status, physical activity, estimated glomerular filtration rate and month of blood sampling. The models for women were further adjusted for menopausal status. Higher BTM or 25-hydroxyvitamin D concentrations were associated with significantly lower odds for metabolic disease, while there was no association between parathyroid hormone and MetS or T2DM. Our results contribute to the accumulating evidence of a cross-sectional association between high BTM or 25-hydroxyvitamin D concentrations and a lower prevalence of MetS or T2DM. Further research is necessary to evaluate the mechanisms underlying these results. Copyright © 2015 Elsevier B.V. All rights reserved.

  5. Intrathecal application of autologous bone marrow cell preparations in parkinsonian syndromes

    DEFF Research Database (Denmark)

    Storch, Alexander; Csoti, Ilona; Eggert, Karla

    2012-01-01

    A growing number of patients is treated with intrathecal application of autologous bone marrow cells (aBMCs), but clinical data are completely lacking in movement disorders. We provide first clinical data on efficacy and safety of this highly experimental treatment approach in parkinsonian...

  6. Efficacy of estrogen replacement therapy (ERT) on uterine growth and acquisition of bone mass in patients with Turner syndrome.

    Science.gov (United States)

    Nakamura, Tomomi; Tsuburai, Taku; Tokinaga, Aya; Nakajima, Izumi; Kitayama, Reiko; Imai, Yuichi; Nagata, Tomoko; Yoshida, Hiroshi; Hirahara, Fumiki; Sakakibara, Hideya

    2015-01-01

    Estrogen replacement therapy (ERT) is necessary for uterine development and bone mass acquisition in women with Turner syndrome (TS) suffering from ovarian insufficiency. However, adequate ERT regimens have not yet been established. The aim of this study was to evaluate the efficacy of ERT for both uterine development and bone mass acquisition. One hundred TS patients from Yokohama City University Hospital (88 with primary amenorrhea (PA) and 12 patients with spontaneous menstrual cycles (MC)) were enrolled after obtaining consent. Clinical profiles, uterine length (UL) measured by ultrasonic examination, and bone mineral density (BMD) of the lumbar vertebrae (L2-4) assessed by DEXA were evaluated. At the time of the first visit, the ULs of patients in the PA group were significantly shorter than those in the MC group. After receiving ERT, there were no significant differences in UL between patients with PA and MC. Forty-seven patients for whom the ERT initiation age was known were investigated to clarify the influence on BMD. The results showed that the BMD in the late initiation (18 years or older) group at the latest visit (0.770 ± 0.107 g/cm2: n = 16) was significantly lower than that in the early initiation (under 18 years) group (0.858 ± 0.119 g/cm2: n = 21) or the MC group (0.941 ± 0.118 g/cm2: n = 10). No significant differences were seen between the early initiation and MC group. ERT was effective in increasing UL and BMD. However, early initiation of ERT is necessary to increase BMD.

  7. Reading the Postcolonial Island in Amitav Ghosh’s The Hungry Tide

    Directory of Open Access Journals (Sweden)

    Lisa Fletcher

    2011-05-01

    Full Text Available This paper argues that literature has much to contribute to the theoretical work of island studies, and not just because literary texts provide evidence of the ways islands are conceptualized in different historical and cultural contexts. To this end, it discusses Amitav Ghosh’s The Hungry Tide (2004, a novel which actively theorizes key concepts in island studies. The Hungry Tide is set in the Sundarbans, an “immense archipelago” in the Ganges delta, and tells the largely forgotten history of the forced evacuation of refugees from the island of Morichjhãpi in 1979. The liminal space of the Sundarbans, the “tide country”, is an extraordinary setting for a literary exploration of the relationship between postcolonial island geographies and identities. Ghosh’s depiction of the “watery labyrinth” (Ghosh, 2004: 72 and “storm-tossed islands” (Ghosh, 2004: 164 of the Sundarbans raises and addresses questions, which should be at the heart of the critical meta-discourse of island studies.

  8. (99m)Tc-methylene diphosphonate bone scintigraphy findings in posttransplant distal limb syndrome.

    Science.gov (United States)

    Derlin, Thorsten; Busch, Jasmin D; Bannas, Peter

    2014-07-01

    We report a case of posttransplant distal limb syndrome (PTDLS) representing a rare complication in kidney transplant recipients characterized by a pain syndrome of the distal extremities. A 68-year-old man with a history of kidney transplantation presented with symmetrical and incapacitating pain in the feet and knees and underwent whole-body Tc-methylene diphosphonate (MDP) scintigraphy for further evaluation. Planar scintigraphy demonstrated marked tracer uptake in the distal femoral and tibial epiphyses, and magnetic resonance imaging showed corresponding osteoedema. Tc-MDP scintigraphy is a valuable tool for evaluation of the etiology of musculoskeletal pain and may demonstrate typical findings in case of PTDLS.

  9. DNAJC21 Mutations Link a Cancer-Prone Bone Marrow Failure Syndrome to Corruption in 60S Ribosome Subunit Maturation.

    Science.gov (United States)

    Tummala, Hemanth; Walne, Amanda J; Williams, Mike; Bockett, Nicholas; Collopy, Laura; Cardoso, Shirleny; Ellison, Alicia; Wynn, Rob; Leblanc, Thierry; Fitzgibbon, Jude; Kelsell, David P; van Heel, David A; Payne, Elspeth; Plagnol, Vincent; Dokal, Inderjeet; Vulliamy, Tom

    2016-07-07

    A substantial number of individuals with bone marrow failure (BMF) present with one or more extra-hematopoietic abnormality. This suggests a constitutional or inherited basis, and yet many of them do not fit the diagnostic criteria of the known BMF syndromes. Through exome sequencing, we have now identified a subgroup of these individuals, defined by germline biallelic mutations in DNAJC21 (DNAJ homolog subfamily C member 21). They present with global BMF, and one individual developed a hematological cancer (acute myeloid leukemia) in childhood. We show that the encoded protein associates with rRNA and plays a highly conserved role in the maturation of the 60S ribosomal subunit. Lymphoblastoid cells obtained from an affected individual exhibit increased sensitivity to the transcriptional inhibitor actinomycin D and reduced amounts of rRNA. Characterization of mutations revealed impairment in interactions with cofactors (PA2G4, HSPA8, and ZNF622) involved in 60S maturation. DNAJC21 deficiency resulted in cytoplasmic accumulation of the 60S nuclear export factor PA2G4, aberrant ribosome profiles, and increased cell death. Collectively, these findings demonstrate that mutations in DNAJC21 cause a cancer-prone BMF syndrome due to corruption of early nuclear rRNA biogenesis and late cytoplasmic maturation of the 60S subunit.

  10. Cortical and trabecular bone at the radius and tibia in male and female adolescents with Down syndrome: a peripheral quantitative computed tomography (pQCT) study.

    Science.gov (United States)

    González-Agüero, A; Vicente-Rodríguez, G; Gómez-Cabello, A; Casajús, J A

    2013-03-01

    We aimed to describe the structure and strength of the tibia and radius of adolescents with Down syndrome. We observed that despite higher levels of volumetric bone mineral density in determined skeletal sites, they are at higher risk of developing osteoporotic fractures in the future due to their lower bone strength indexes. The aims of the study were to describe the cortical and trabecular volumetric bone mineral density (vBMD), bone mineral content (BMC), area, and bone strength in adolescents with Down syndrome (DS) and to compare them with adolescents without disabilities. Thirty adolescents (11 girls) with DS and 28 without disabilities (10 girls) participated in the study. Peripheral quantitative computed tomography measurements were taken at proximal and distal sites of the tibia and radius. Values of total, trabecular, and cortical BMC; vBMD; and area were obtained of each scan. Cortical thickness and endosteal and periosteal circumferences were also measured, and different bone strength indexes were calculated. Student's t tests were applied between groups. The DS group showed greater vBMD at distal radius, BMC at proximal radius, and total and cortical vBMD at proximal tibia. The non-DS group showed higher total and trabecular area at the distal radius and total, cortical, and trabecular BMC and area at distal tibia. Higher values of periosteal and endosteal circumference and bone strength were also found in non-DS group. From these results, it can be believed that even with higher vBMD in determined skeletal sites, adolescents with DS are at higher risk of suffering bone fractures due to an increased fragility by lower resistance to load bending or torsion.

  11. COMPARATIVE EFFECT OF CARPAL BONE MOBILIZATION VERSUS NEURAL MOBILIZATION IN IMPROVING PAIN, FUNCTIONAL STATUS AND SYMPTOMS SEVERITY IN PATIENTS WITH CARPAL TUNNEL SYNDROME

    Directory of Open Access Journals (Sweden)

    Vikranth .G .R

    2015-06-01

    Full Text Available Background: Carpal tunnel syndrome (CTS is a constellation of symptoms associated with compression of the median nerve at the wrist in carpal tunnel. The Purpose of this study is to find the comparative effective of carpal bone mobilization and neural mobilization in improving pain, Functional Status and Symptom Severity in patients with CTS. Method: An experimental study design, 30 subjects with carpal tunnel syndrome were randomized into 2 groups with 15 subjects each in Group A and Group B. Subjects in Group A received carpal bone mobilization and subjects in Group B received median nerve mobilization. The duration of intervention was for two weeks. Outcome measurements such as pain using VAS, The Functional Status Score (FSS and Symptom Severity Score (SSS using the Boston’s questionnaire for CTS were measured before and after two weeks of intervention. Results: Analysis using paired ‘t’ test found that there is a statistically significant improvement (p<0.05 in pain, Functional Status score and Symptom Severity score within the groups. Comparative analysis using independent ‘t’ test found that there is no statistically significant difference in improving pain, Functional Status score and Symptom Severity score between both the groups. Conclusion: It is concluded that median nerve mobilization and carpal bone mobilization shown to be effective on improving pain, Functional Status and Symptom Severity in the treatment of patients presenting with carpal tunnel syndrome. However there is no significant difference in improvements obtained between the neural mobilization and carpal bone mobilisation.

  12. Reduced expression of FLIPSHORT in bone marrow of low risk myelodysplastic syndrome

    NARCIS (Netherlands)

    Campos, Paula de Melo; Traina, Fabiola; Santos Duarte, Adriana da Silva; Lorand-Metze, Irene; Costa, Fernando F.; Saad, Sara T. O.

    2007-01-01

    Apoptosis is dysregulated in patients with myelodysplastic syndrome (MDS) and acute myelogenous leukaemia (AML). FLIP (FLICE (FAS-associated death-domain-like IL-1 beta-converting enzyme)-inhibitory protein) has been described as an anti-apoptotic protein. Here, we characterize the expression level

  13. Effects of treatment with glucagon-like peptide-2 on bone resorption in colectomized patients with distal ileostomy or jejunostomy and short-bowel syndrome

    DEFF Research Database (Denmark)

    Gottschalck, I.B.; Jeppesen, Palle Bekker; Hartmann, B.;

    2008-01-01

    OBJECTIVE: The gut hormone GLP-2 (glucagon-like peptide-2) seems to be involved in the circadian pattern of bone resorption, whereas parathyroid hormone (PTH) is an established key hormone in bone turnover. Endogenous GLP-2 secretion is lacking in colectomized patients with short-bowel syndrome (...... and therefore precludes treatment of their osteopenia with GLP-2. The anti-resorptive response to GLP-2 seems to require an intact small intestine and may involve suppression of PTH secretion Udgivelsesdato: 2008......OBJECTIVE: The gut hormone GLP-2 (glucagon-like peptide-2) seems to be involved in the circadian pattern of bone resorption, whereas parathyroid hormone (PTH) is an established key hormone in bone turnover. Endogenous GLP-2 secretion is lacking in colectomized patients with short-bowel syndrome...... (SBS) and they have reduced bone mineral density (BMD). The aim of the study was to investigate the anti-resorptive effect (assessed by s-CTX) of 14 days of GLP-2 treatment in these patients and to determine whether 56 days of treatment would improve BMD. PTH secretion in response to GLP-2 was also...

  14. Effects of treatment with glucagon-like peptide-2 on bone resorption in colectomized patients with distal ileostomy or jejunostomy and short-bowel syndrome

    DEFF Research Database (Denmark)

    Gottschalck, Ida B; Jeppesen, Palle B; Hartmann, Bolette;

    2008-01-01

    OBJECTIVE: The gut hormone GLP-2 (glucagon-like peptide-2) seems to be involved in the circadian pattern of bone resorption, whereas parathyroid hormone (PTH) is an established key hormone in bone turnover. Endogenous GLP-2 secretion is lacking in colectomized patients with short-bowel syndrome (...... and therefore precludes treatment of their osteopenia with GLP-2. The anti-resorptive response to GLP-2 seems to require an intact small intestine and may involve suppression of PTH secretion.......OBJECTIVE: The gut hormone GLP-2 (glucagon-like peptide-2) seems to be involved in the circadian pattern of bone resorption, whereas parathyroid hormone (PTH) is an established key hormone in bone turnover. Endogenous GLP-2 secretion is lacking in colectomized patients with short-bowel syndrome...... (SBS) and they have reduced bone mineral density (BMD). The aim of the study was to investigate the anti-resorptive effect (assessed by s-CTX) of 14 days of GLP-2 treatment in these patients and to determine whether 56 days of treatment would improve BMD. PTH secretion in response to GLP-2 was also...

  15. Computed tomography assessment of bone lesions in patients with POEMS syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Glazebrook, K.; Johnson, Adam; Leng, S.; Dispenzieri, A. [Mayo Clinic, Rochester, MN (United States); Guerra Bonilla, Francis L. [Hospital Regional Rafael Hernandez, Hematology Division, David, Chiriqui (Panama)

    2014-09-25

    To describe the imaging findings on computed tomography (CT) and skeletal survey (SS) in patients with POEMS syndrome. We retrospectively reviewed, with institutional review board approval, the dysproteinemia database at our institution for patients with new diagnosis of POEMS syndrome between January 1998 and December 2008. Twenty-four patients were identified with PET/CT or CT and had skeletal survey (SS) available for review. Twenty-four patients were included in the study group with median age of 47 years. All CTs demonstrated at least one sclerotic lesion. The most common pattern was multiple small lesions, with 18 patients (75 %) having at least 5 lesions less than 1 cm. The larger lesions had a central lytic component and were FDG avid. SS had a false negative rate of 36 % (8 patients). Serial CT after treatment showed a decrease in size and number of sclerotic lesions in 53 % of cases (13 patients), the majority showing increased sclerosis. Two patients had complete resolution of sclerotic lesions. CT identified sclerotic lesions in all study patients with POEMS syndrome, the majority being less than 1 cm in size, which were not identified radiographically. CT may demonstrate increased sclerosis or even resolution of sclerotic lesions corresponding to treatment response. (orig.)

  16. Craniospinal Polyostotic Fibrous Dysplasia, Aneurysmal Bone Cysts, and Chiari Type 1 Malformation Coexistence in a Patient with McCune-Albright Syndrome.

    Science.gov (United States)

    Urgun, Kamran; Yılmaz, Baran; Toktaş, Zafer Orkun; Akakın, Akın; Konya, Deniz; Demir, Mustafa Kemal; Kılıç, Türker

    2016-01-01

    Aneurysmal bone cysts (ABCs) are defined as benign cystic lesions of bone composed of blood-filled spaces. ABCs may be a secondary pathology superimposed on fibrous dysplasia (FD). Concomitant FD and ABC in relation with McCune-Albright syndrome is an extremely rare condition. Here, we report concomitant, double ABCs in bilateral occipital regions and FD from the skull base to the C2 vertebra with Chiari type 1 malformation. A 14-year-old female with a diagnosis of McCune-Albright syndrome presented with swellings at the back of her head. The lesions were consistent with ABCs and were totally resected with reconstruction of the calvarial defects. The coexistence of FD, bilateral occipital ABCs, and Chiari malformation type 1 in a McCune-Albright patient is an extremely rare condition and, to our knowledge, has not been reported to date. Exact diagnosis and appropriate surgical treatment usually lead to a good outcome.

  17. Effect of alendronate on bone mineral density in adult patients with Laron syndrome (primary growth hormone insensitivity).

    Science.gov (United States)

    Eshed, Varda; Benbassat, Carlos A; Laron, Zvi

    2006-04-01

    Severe short stature resulting from a deficiency in insulin-like growth factor-I (IGF-I) is a prominent feature of Laron syndrome (LS). Whether patients with LS are osteopenic or not, and whether they need treatment with bisphosphonates, remains uncertain. The aim of this study was to investigate the action of alendronate on the IGF-I-deficient bones of adult patients with LS and osteoporosis, as determined by dual X-ray absorptiometry . Seven patients (5 women and 2 men) of mean age 40.8+/-7.6 years and mean bone mass density (BMD) 0.843+/-0.06 g/cm2 (T score -2.9+/-0.5) at the lumbar spine and 0.734+/-0.11 g/cm2 (T score -2.2+/-0.9) at the femoral neck were treated with alendronate 70 mg once/weekly over a 12-month period. Treatment led to an increase of 5.3% in BMD (p=0.038) at the femoral neck. There was a similar trend at the lumbar spine, but the difference was not statistically significant (2.3%, p=0.34). Mean total alkaline phosphatase decreased by 14% from normal range at baseline (p=0.007). Urinary deoxypyridinoline levels, which were elevated at baseline (10+/-2.3 nM/mMcre), showed a nonsignificant change during treatment. Our study suggests that treatment with alendronate may have positive effects in patients with LS and low BMD on dual X-ray absorptiometry.

  18. Low bone mineral density for age/osteoporosis in triple A syndrome-an overlooked symptom of unexplained etiology.

    Science.gov (United States)

    Dumic, M; Putarek, N R; Kusec, V; Barisic, N; Koehler, K; Huebner, A

    2016-02-01

    Triple A syndrome (alacrima, achalasia, adrenal failure, progressive neurodegenerative disease) is caused by mutations in the AAAS gene which encodes the protein alacrima achalasia adrenal insufficiency neurologic disorder (ALADIN). Our investigation suggests that low bone mineral density (BMD) for age/osteoporosis could be a common but overlooked symptom of unexplained etiology in this rare multisystemic disease. The purpose of this study is to evaluate incidence and etiology of BMD for age/osteoporosis, a possibly overlooked symptom in triple A syndrome. Dual-energy X-ray absorptiometry (DXA) of the femoral neck, total hip, lumbar spine, and radius, bone turnover markers, minerals, total alkaline phosphatase (ALP), 25-hydroxy vitamin D (25-OHD), 1,25-dihydroxy vitamin D (1,25-OH2D), intact parathyroid hormone (PTH), and adrenal androgens (dehydroepiandrosterone sulfate (DHEAS) and androstenedione) were measured in five male and four female patients. At time of diagnosis, low BMD for age was suspected on X-ray in seven of nine patients aged 2-11 years (not performed in two patients); normal levels of minerals and ALP were found in nine patients and low levels of adrenal androgens in eight patients (not measured in one patient). Reevaluation 5-35 years after introduction of 12 mg/m(2)/day hydrocortisone showed low BMD for age in two children, osteopenia in one, and osteoporosis in six adults. Normal levels of minerals, ALP, PTH, 1,25-OH2D, procollagen type 1, crosslaps, and osteocalcin were found in all patients. Low levels of adrenal androgens were found in all and 25OHD deficiency in six patients. Body mass index was osteoporosis in our patients probably is not a result of glucocorticoid therapy but could be the consequence of low level of adrenal androgens, neurological impairment causing physical inactivity, inadequate sun exposure, and protein malnutrition secondary to achalasia. Considering ubiquitous ALADIN expression, low BMD/osteoporosis may be a

  19. The Hungry Mind: Intellectual Curiosity Is the Third Pillar of Academic Performance.

    Science.gov (United States)

    von Stumm, Sophie; Hell, Benedikt; Chamorro-Premuzic, Tomas

    2011-11-01

    Over the past century, academic performance has become the gatekeeper to institutions of higher education, shaping career paths and individual life trajectories. Accordingly, much psychological research has focused on identifying predictors of academic performance, with intelligence and effort emerging as core determinants. In this article, we propose expanding on the traditional set of predictors by adding a third agency: intellectual curiosity. A series of path models based on a meta-analytically derived correlation matrix showed that (a) intelligence is the single most powerful predictor of academic performance; (b) the effects of intelligence on academic performance are not mediated by personality traits; (c) intelligence, Conscientiousness (as marker of effort), and Typical Intellectual Engagement (as marker of intellectual curiosity) are direct, correlated predictors of academic performance; and (d) the additive predictive effect of the personality traits of intellectual curiosity and effort rival that the influence of intelligence. Our results highlight that a "hungry mind" is a core determinant of individual differences in academic achievement.

  20. A periodic phase soliton of the ultradiscrete hungry Lotka-Volterra equation

    Energy Technology Data Exchange (ETDEWEB)

    Nakamura, Shinya [Major in Pure and Applied Mathematics, Graduate School of Fundamental Science and Engineering, Waseda University, 3-4-1, Okubo, Shinjuku-ku, Tokyo 169-8555 (Japan)], E-mail: s-nakamura@moegi.waseda.jp

    2009-12-11

    We propose a new type of solution to the ultradiscrete hungry Lotka-Volterra (uhLV) equation. For the solution, the periodic phase is introduced into the known soliton and the extended soliton becomes a traveling wave showing a periodic variation. We call this type of wave a 'periodic phase soliton' (PPS). The solution has two forms of expression: one is the 'perturbation form' and the other is the 'ultradiscrete permanent form'. We analyze the interaction among PPSs and solitons. Moreover, we give the outline of proof to show that the solution satisfies the bilinear equation of the uhLV equation.

  1. Mutation analysis of exon1 of bone morphogenetic protein-15 gene in Iranian patients with polycystic ovarian syndrome

    Directory of Open Access Journals (Sweden)

    Anahita Mehdizadeh

    2016-08-01

    Full Text Available Background: With the prevalence of 6-10%, polycystic ovarian syndrome (PCOS is considered the most common endocrinological disorder affecting women in their reproductive age. It has been suggested that genetic factors participate in the development of PCOS. Follicular development has been considered as one of the impaired processes in PCOS. Bone morphogenetic protein-15 (BMP-15 gene is a candidate gene in follicular development and its variants may play role in pathogenesis of PCOS. Objective: To investigate whether BMP-15 gene mutations are present in Iranian women with PCOS. Materials and Methods: In this cross-sectional study 5 ml venous blood samples was taken from 70 PCOS women referring to Afzalipour Hospital, Kerman University of Medical Sciences, Kerman, Iran, between January to December 2014. Genomic DNA was extracted from the blood sample by salting out method. Then a set of PCR reactions for exon1 of BMP-15 gene was performed using specific primers followed by genotyping with direct sequencing. Results: Two different polymorphisms were found in the gene under study. In total 20 patients (28.6% were heterozygote (C/G, and 2 patients (2.86% were homozygous (G/G for c.-9C>G in 5´UTR promoter region of BMP-15 gene (rs3810682. In addition, in the coding region of exon1, three patients (4.3% were heterozygote (G/A for c.A308G (rs41308602. Two PCOS patients (2.86% appeared to have both c.-9C>G (C/G and c.A308G (G/A variants simultaneously. Conclusion: Our research detected two polymorphisms of BMP-15 gene among PCOS patients, indicating that even though it cannot be concluded that variants of BMP-15 gene are the principal cause of polycystic ovarian syndrome; they could be involved in pathogenic process in development of PCOS.

  2. Mutation analysis of exon1 of bone morphogenetic protein-15 gene in Iranian patients with polycystic ovarian syndrome

    Science.gov (United States)

    Mehdizadeh, Anahita; Sheikhha, Mohammad Hasan; Kalantar, Seyed Mehdi; Aali, Bibi Shahnaz; Ghanei, Azam

    2016-01-01

    Background: With the prevalence of 6-10%, polycystic ovarian syndrome (PCOS) is considered the most common endocrinological disorder affecting women in their reproductive age. It has been suggested that genetic factors participate in the development of PCOS. Follicular development has been considered as one of the impaired processes in PCOS. Bone morphogenetic protein-15 (BMP-15) gene is a candidate gene in follicular development and its variants may play role in pathogenesis of PCOS. Objective: To investigate whether BMP-15 gene mutations are present in Iranian women with PCOS. Materials and Methods: In this cross-sectional study 5 ml venous blood samples was taken from 70 PCOS women referring to Afzalipour Hospital, Kerman University of Medical Sciences, Kerman, Iran, between January to December 2014. Genomic DNA was extracted from the blood sample by salting out method. Then a set of PCR reactions for exon1 of BMP-15 gene was performed using specific primers followed by genotyping with direct sequencing. Results: Two different polymorphisms were found in the gene under study. In total 20 patients (28.6%) were heterozygote (C/G), and 2 patients (2.86%) were homozygous (G/G) for c.-9C>G in 5´UTR promoter region of BMP-15 gene (rs3810682). In addition, in the coding region of exon1, three patients (4.3%) were heterozygote (G/A) for c.A308G (rs41308602). Two PCOS patients (2.86%) appeared to have both c.-9C>G (C/G) and c.A308G (G/A) variants simultaneously. Conclusion: Our research detected two polymorphisms of BMP-15 gene among PCOS patients, indicating that even though it cannot be concluded that variants of BMP-15 gene are the principal cause of polycystic ovarian syndrome; they could be involved in pathogenic process in development of PCOS. PMID:27679828

  3. The proliferation index of specific bone marrow cell compartments from myelodysplastic syndromes is associated with the diagnostic and patient outcome.

    Directory of Open Access Journals (Sweden)

    Sergio Matarraz

    Full Text Available Myelodysplastic syndromes (MDS are clonal stem cell disorders which frequently show a hypercellular dysplastic bone marrow (BM associated with inefficient hematopoiesis and peripheral cytopenias due to increased apoptosis and maturation blockades. Currently, little is known about the role of cell proliferation in compensating for the BM failure syndrome and in determining patient outcome. Here, we analyzed the proliferation index (PI of different compartments of BM hematopoietic cells in 106 MDS patients compared to both normal/reactive BM (n = 94 and acute myeloid leukemia (AML; n = 30 cases using multiparameter flow cytometry. Our results show abnormally increased overall BM proliferation profiles in MDS which significantly differ between early/low-risk and advanced/high-risk cases. Early/low-risk patients showed increased proliferation of non-lymphoid CD34(+ precursors, maturing neutrophils and nucleated red blood cells (NRBC, while the PI of these compartments of BM precursors progressively fell below normal values towards AML levels in advanced/high-risk MDS. Decreased proliferation of non-lymphoid CD34(+ and NRBC precursors was significantly associated with adverse disease features, shorter overall survival (OS and transformation to AML, both in the whole series and when low- and high-risk MDS patients were separately considered, the PI of NRBC emerging as the most powerful independent predictor for OS and progression to AML. In conclusion, assessment of the PI of NRBC, and potentially also of other compartments of BM precursors (e.g.: myeloid CD34(+ HPC, could significantly contribute to a better management of MDS.

  4. The Proliferation Index of Specific Bone Marrow Cell Compartments from Myelodysplastic Syndromes Is Associated with the Diagnostic and Patient Outcome

    Science.gov (United States)

    Matarraz, Sergio; Teodosio, Cristina; Fernandez, Carlos; Albors, Manuel; Jara-Acevedo, María; López, Antonio; Gonzalez-Gonzalez, María; Gutierrez, María Laura; Flores-Montero, Juan; Cerveró, Carlos; Pizarro-Perea, Marlies; Garrastazul, María Paz; Caballero, Gonzalo; Gutierrez, Oliver; Mendez, Guy Daniel; González-Silva, Manuel; Laranjeira, Paula; Orfao, Alberto

    2012-01-01

    Myelodysplastic syndromes (MDS) are clonal stem cell disorders which frequently show a hypercellular dysplastic bone marrow (BM) associated with inefficient hematopoiesis and peripheral cytopenias due to increased apoptosis and maturation blockades. Currently, little is known about the role of cell proliferation in compensating for the BM failure syndrome and in determining patient outcome. Here, we analyzed the proliferation index (PI) of different compartments of BM hematopoietic cells in 106 MDS patients compared to both normal/reactive BM (n = 94) and acute myeloid leukemia (AML; n = 30 cases) using multiparameter flow cytometry. Our results show abnormally increased overall BM proliferation profiles in MDS which significantly differ between early/low-risk and advanced/high-risk cases. Early/low-risk patients showed increased proliferation of non-lymphoid CD34+ precursors, maturing neutrophils and nucleated red blood cells (NRBC), while the PI of these compartments of BM precursors progressively fell below normal values towards AML levels in advanced/high-risk MDS. Decreased proliferation of non-lymphoid CD34+ and NRBC precursors was significantly associated with adverse disease features, shorter overall survival (OS) and transformation to AML, both in the whole series and when low- and high-risk MDS patients were separately considered, the PI of NRBC emerging as the most powerful independent predictor for OS and progression to AML. In conclusion, assessment of the PI of NRBC, and potentially also of other compartments of BM precursors (e.g.: myeloid CD34+ HPC), could significantly contribute to a better management of MDS. PMID:22952954

  5. Transgene silencing of the Hutchinson-Gilford progeria syndrome mutation results in a reversible bone phenotype, whereas resveratrol treatment does not show overall beneficial effects

    DEFF Research Database (Denmark)

    Strandgren, Charlotte; Nasser, Hasina Abdul; McKenna, Tomás

    2015-01-01

    Hutchinson-Gilford progeria syndrome (HGPS) is a rare premature aging disorder that is most commonly caused by a de novo point mutation in exon 11 of the LMNA gene, c.1824C>T, which results in an increased production of a truncated form of lamin A known as progerin. In this study, we used a mouse...... model to study the possibility of recovering from HGPS bone disease upon silencing of the HGPS mutation, and the potential benefits from treatment with resveratrol. We show that complete silencing of the transgenic expression of progerin normalized bone morphology and mineralization already after 7...... weeks. The improvements included lower frequencies of rib fractures and callus formation, an increased number of osteocytes in remodeled bone, and normalized dentinogenesis. The beneficial effects from resveratrol treatment were less significant and to a large extent similar to mice treated with sucrose...

  6. Prader-Willi Critical Region, a Non-Translated, Imprinted Central Regulator of Bone Mass: Possible Role in Skeletal Abnormalities in Prader-Willi Syndrome.

    Directory of Open Access Journals (Sweden)

    Ee-Cheng Khor

    Full Text Available Prader-Willi Syndrome (PWS, a maternally imprinted disorder and leading cause of obesity, is characterised by insatiable appetite, poor muscle development, cognitive impairment, endocrine disturbance, short stature and osteoporosis. A number of causative loci have been located within the imprinted Prader-Willi Critical Region (PWCR, including a set of small non-translated nucleolar RNA's (snoRNA. Recently, micro-deletions in humans identified the snoRNA Snord116 as a critical contributor to the development of PWS exhibiting many of the classical symptoms of PWS. Here we show that loss of the PWCR which includes Snord116 in mice leads to a reduced bone mass phenotype, similar to that observed in humans. Consistent with reduced stature in PWS, PWCR KO mice showed delayed skeletal development, with shorter femurs and vertebrae, reduced bone size and mass in both sexes. The reduction in bone mass in PWCR KO mice was associated with deficiencies in cortical bone volume and cortical mineral apposition rate, with no change in cancellous bone. Importantly, while the length difference was corrected in aged mice, consistent with continued growth in rodents, reduced cortical bone formation was still evident, indicating continued osteoblastic suppression by loss of PWCR expression in skeletally mature mice. Interestingly, deletion of this region included deletion of the exclusively brain expressed Snord116 cluster and resulted in an upregulation in expression of both NPY and POMC mRNA in the arcuate nucleus. Importantly, the selective deletion of the PWCR only in NPY expressing neurons replicated the bone phenotype of PWCR KO mice. Taken together, PWCR deletion in mice, and specifically in NPY neurons, recapitulates the short stature and low BMD and aspects of the hormonal imbalance of PWS individuals. Moreover, it demonstrates for the first time, that a region encoding non-translated RNAs, expressed solely within the brain, can regulate bone mass in health

  7. Sonic Hedgehog Produced by Bone Marrow-Derived Mesenchymal Stromal Cells Supports Cell Survival in Myelodysplastic Syndrome

    Directory of Open Access Journals (Sweden)

    Jixue Zou

    2015-01-01

    Full Text Available The role of marrow microenvironment in the pathogenesis of myelodysplastic syndrome (MDS remains controversial. Therefore, we studied the influence of bone marrow-derived mesenchymal stromal cells (BMSCs from patients with different risk types of MDS on the survival of the MDS cell lines SKM-1 and MUTZ-1. We first demonstrated that the expression of Sonic hedgehog (Shh, smoothened (Smo, and glioma-associated oncogene homolog 1 (Gli1 was increased in MDS patients n=23; the increase in expression was positively correlated with the presence of high-risk factors. The Shh signaling inhibitor, cyclopamine, inhibited high-risk MDS BMSC-induced survival of SKM-1 and MUTZ-1 cells, suggesting a role for Shh signaling in MDS cell survival. Furthermore, cyclopamine-mediated inhibition of Shh signaling in SKM-1 and MUTZ-1 cells resulted in decreased DNMT1 expression and cell survival; however, exogenous Shh peptide had the opposite effect, suggesting that Shh signaling could regulate the expression of DNMT1, thereby modulating cell survival in MDS. In addition, the apoptosis of SKM-1 and MUTZ-1 cell increased significantly when cultured with cyclopamine and a demethylation agent, 5-Aza-2′-deoxycytidine. These findings suggest that Shh signaling from BMSCs is important in the pathogenesis of MDS and could play a role in disease progression by modulating methylation.

  8. Bone age is the best predictor of growth response to recombinant human growth hormone in Turner′s syndrome

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    Ismail Nagwa

    2010-01-01

    Full Text Available Background and Objectives: Recombinant human growth hormone (rhGH is approved for use in children with Turner′s syndrome (TS in most industrialized countries and is recommended in the recently issued guidelines. We determined the growth responses of girls who are treated with rhGH for TS, with an aim to identify the predictors of growth response. Materials and Methods: Fifty-six prepubertal girls with TS, documented by peripheral blood karyotype, were enrolled. All the patients received biosynthetic growth hormone therapy with a standard dose of 30 IU/m 2 /week. The calculated dose per week was divided for 6 days and given subcutaneously at night. Results: This study showed that rhGH therapy provides satisfactory auxological results. Bone age delay is to be considered as a predictive factor which may negatively influence the effect of rhGH therapy on final height. The growth velocity in the preceding year is the most important predictor of rhGH therapy response. Conclusion: These observations help us to guide rhGH prescription, to reduce the risks and costs.

  9. Bone mineral density in MPS IV A (Morquio syndrome type A).

    Science.gov (United States)

    Kecskemethy, Heidi H; Kubaski, Francyne; Harcke, H T; Tomatsu, Shunji

    2016-02-01

    Mucopolysaccharidosis IV A (MPS IV A), Morquio A, is caused by deficiency in lysosomal enzyme N-acetylgalactosamine-6-sulfate sulfatase (GALNS), which is responsible for the catabolism of the glycosaminoglycans (GAGs) keratan sulfate (KS) and chondroitin 6-sulfate (C6S). Accumulation of GAGs results in disrupted cartilage formation and skeletal dysplasia. In this prospective cross-sectional study, bone mineral density (BMD) of the whole body (WB), lumbar spine (LS), and lateral distal femur (LDF) was acquired by dual-energy X-ray absorptiometry (DXA) on patients with MPS IV A. Functional abilities, medical history, Tanner score, and laboratory results were reviewed. Age and sex-matched norms were used to calculate Z-scores. Participants included 18 patients (13 females; 16 were unrelated) with a mean age of 21.4years (3.3 to 40.8years). While every patient was able to bear weight, 9 were full-time ambulators. Whole-body DXA could be obtained on only 6 patients (5 full-time ambulators) because of respiratory compromise caused by the position, presence of hardware, or positioning difficulties. Mean WB Z-score was -2.0 (range-0.3 to -4.1). Technical issues invalidating LS DXA in 8 patients included kyphosis at the thoracolumbar junction resulting in overlap of vertebrae in the posterior-anterior view. Mean LS BMD Z-score in full-time ambulators was -3.4 (range-1.6 to -5.0) and in the non-/partial ambulator was -4.0 (-3.7 to -4.2). Lateral distal femur BMD was acquired on every patient, and average Z-scores were -2 or less at all sites; full-time ambulators exhibited higher BMD. In conclusion, the LDF proved to be the most feasible site to measure in patients with MPS IV A. The higher LDF values in ambulators suggest this should be a consideration in promoting bone health for this group.

  10. Effects of the Operation of Hungry Horse Dam on the Kokanee Fishery in the Flathead River System, 1983 Annual Progress Report.

    Energy Technology Data Exchange (ETDEWEB)

    Fraley, John J.

    1983-11-01

    This study was undertaken to assess the effects of the operation of Hungry Horse Dam on the kokanee fishery in the Flathead River system. This annual report covers the 1982-1983 field season concerning the effects of Hungry Horse operations on kokanee abundance, migration, spawning, egg incubation and fry emergence in the Flathead River system. This report also addresses the expected recovery of the mainstem kokanee population under the flow regime recommended by the Department of Fish, Wildlife and Parks in 1982.

  11. Effects of the Operation of Hungry Horse Dam on the Kokanee Fishery in the Flathead River System, 1983 Annual Progress Report.

    Energy Technology Data Exchange (ETDEWEB)

    Fraley, John J.

    1983-11-01

    This study was undertaken to assess the effects of the operation of Hungry Horse Dam on the kokanee fishery in the Flathead River system. This annual report covers the 1982-1983 field season concerning the effects of Hungry Horse operations on kokanee abundance, migration, spawning, egg incubation and fry emergence in the Flathead River system. This report also addresses the expected recovery of the mainstem kokanee population under the flow regime recommended by the Department of Fish, Wildlife and Parks in 1982.

  12. A comparative study of dual-X-ray absorptiometry and quantitative ultrasonography for the evaluating bone status in subjects with Rett syndrome.

    Science.gov (United States)

    Caffarelli, C; Hayek, J; Tomai Pitinca, M D; Nuti, R; Gonnelli, S

    2014-09-01

    Rett syndrome, an X-linked neurodevelopmental disorder primarily affecting girls, is frequently characterized by a reduced bone mineral density (BMD) with an increased risk of fragility fractures. The aim of the study was to assess bone status by DXA technique and by quantitative ultrasound (QUS) in subjects with Rett syndrome and to evaluate which DXA or QUS parameters better correlate with clinical features. In 156 Rett subjects (mean age 13.6 ± 8.2 years) and in 62 controls, we measured BMD at femoral neck (BMD-FN) and at total femur (BMD-TF). Apparent volumetric bone mineral density (vBMAD) was also calculated. In all subjects, QUS parameters at phalanges by Bone Profiler-IGEA (amplitude-dependent speed of sound: AD-SoS and bone transmission time: BTT) were evaluated. We found that both DXA parameters and QUS parameters were significantly lower in Rett subjects than in controls. All clinical characteristics were positively correlated to BMD-FN, BMD-TF, AD-SoS, and BTT (p Rett subjects BMD-FN was predicted primarily by weight and movement capacity, whereas vBMAD-FN was predicted by weight, height, and calcium intake. Moreover, AD-SoS was predicted by weight, height, and age, while BTT was predicted only by height. In conclusion, in our study the performance of QUS at phalanges was similar to those of BMD at femur, therefore, both areal BMD at femur and QUS at phalanges (AD-SoS and BTT) may be equally useful in the evaluation of skeletal status in Rett patients.

  13. Immune-mediated bone marrow failure syndromes of progenitor and stem cells: molecular analysis of cytotoxic T cell clones.

    Directory of Open Access Journals (Sweden)

    Ramon Tiu

    2007-03-01

    Full Text Available The unique structure of the T cell receptor (TCR enables molecular identification of individual T cell clones and provides an unique opportunity for the design of molecular diagnostic tests based on the structure of the rearranged TCR chain e.g., using the TCR CDR3 region. Initially, clonal T cell malignancies, including T cell large granular lymphocyte leukemia (T-LGL, mucosis fungoides and peripheral T cell lymphoma were targets for the TCR-based analytic assays such as detection of clonality by T-gamma rearrangement using y-chain-specific PCR or Southern Blotting. Study of these disorders facilitated further analytic concepts and application of rational methods of TCR analysis to investigations of polyclonal T cell-mediated diseases. In hematology, such conditions include graft versus host disease (GvHD and immune-mediated bone marrow failure syndromes. In aplastic anemia (AA, myelodysplastic syndrome (MDS or paroxysmal nocturnal hemoglobinuria (PNH, cytotoxic T cell responses may be directed against certain antigens located on stem or more lineage-restricted progenitor cells in single lineage cytopenias. The nature of the antigenic targets driving polyclonal CTL responses remains unclear. Novel methods of TCR repertoire analysis, include VB flow cytometry, peptide-specific tetramer staining, in vitro stimulation assays and TCR CDR3-specific PCR. Such PCR assay can be either VB family-specific or multiplexed for all VB families. Amplified products can be characterized and quantitated to facilitate detection of the most immunodominant clonotypes. Such clonotypes may serve as markers for the global polyclonal T cell response. Identification of these clonotypes can be performed in blood and tissue biopsy material by various methods. Once immunodominant clonotypes corresponding to pathogenic CTL clones are identified they can serve as surrogate markers for the activity of the pathophysiologic process or even indicate the presence of specific

  14. Developmental characteristics of various types of hand bones of Poland's syndrome%Poland综合征手部不同类型骨骼的发育特征

    Institute of Scientific and Technical Information of China (English)

    吴冯胜; 田文; 赵俊会; 马炜; 郭阳; 殷耀斌

    2016-01-01

    Objective To explore development status in different types of the hand bone and its developmental characteristics with Poland syndrome.Methods There were 32 cases with Poland's syndrome who accepted bilateral hand X-ray examination in Department of Hand Surgery,Beijing Jishuitan Hospital from February 2013 to August 2014.There were 24 male and 8 female patients aged from 1.0 to 15.0 years with median age of 2.4 years.Right hand deformity was 23 cases and left hand deformity was 9 cases.According to Tanner-Whitehouse skeletal age scoring system,20 bones (radius and ulna,7 carpal bones,11 metacarpal and phalangeal bones) selected from the affected and contralateral limb respectively,were evaluated.Besides,hand deformity of the cases was classified into 5 types based on relevant literature.Each bone was given an individual age using the references of Greulich-Pyle chart.The average of all individual ages was taken as gross bone age,the average of individual ages of radius and ulna was taken as bone age of long bones,the average of individual ages of carpal bone was taken as bone age of carpal bones,and the average of individual age of metacarpal and phalangeal bones was taken as bone age of short bones.The delay of bone age was evaluated by correlation test,while the curve of cubic equation was used for analyzing the variance of skeletal development with age.Results The delay of long bone age of patients with Poland's syndrome in this study were 0-1.9 years ((0.5 ±0.5) years),0-2.2 years ((0.7 ±0.5)years) for carpal bone,0.5-2.0 years((0.6 ±0.4) years)for short bone and 0.1-1.7 years((0.6 ±0.4)years) for gross bone.Twelve cases in type Ⅱ hand deformity,15 cases in type Ⅲ and 5 cases in type Ⅳ.The delay of bone ages,including long bone age,carpal bone age,short bone age and gross bone age,was not related with gender and side(all P > 0.05),but related with degree of deformity(F =3.663-12.971,P =0.000-0.038).Conclusion Compared with normal upper limb,the bone

  15. Fetal nasal bone in screening for trisomies 21, 18 and 13 and Turner syndrome at 11-13 weeks of gestation.

    Science.gov (United States)

    Kagan, K O; Cicero, S; Staboulidou, I; Wright, D; Nicolaides, K H

    2009-03-01

    To investigate the performance of first-trimester screening for aneuploidies by including assessment of the fetal nasal bone in the combined test of maternal age, fetal nuchal translucency (NT) thickness, fetal heart rate (FHR) and serum free beta-human chorionic gonadotropin (beta-hCG) and pregnancy-associated plasma protein-A (PAPP-A). Screening by the combined test was performed in singleton pregnancies, including 19,614 with euploid fetuses, 122 with trisomy 21, 36 with trisomy 18, 20 with trisomy 13 and eight with Turner syndrome. In all cases the fetal nasal bone was assessed and classified as present or absent. We examined the performance of two screening strategies: firstly, assessment of the nasal bone in all patients and secondly, first-stage screening using the combined test in all patients followed by second-stage assessment of the nasal bone only in those with an intermediate risk of 1 in 51 to 1 in 1000 after the first stage. To validate the new risk algorithm we used a second independent dataset of 19 651 fetuses, including 139 with trisomy 21. The nasal bone was absent in 2.6% of the euploid fetuses, 59.8% with trisomy 21, 52.8% with trisomy 18, 45.0% with trisomy 13 and in none of the fetuses with Turner syndrome. Respective figures for an absent nasal bone in the validation population, which contained fewer Black women, were 0.6%, 62.6%, 55.3%, 35.3% and 41.7%. In a screening policy based on maternal age, fetal NT, FHR, serum free beta-hCG and PAPP-A, for a fixed risk cut-off of 1 : 100, the false-positive rate was 3.0%. The standardized detection rates were 91% for trisomy 21 and 100% for trisomy 18, trisomy 13 and Turner syndrome, respectively. Assessment of the nasal bone in all pregnancies reduced the false-positive rate to 2.5% without changing the detection rate. A detection rate of 93% was achieved with the two-stage strategy at a false-positive rate of 2.4% in which it was necessary to assess the nasal bone in only 15% of the total

  16. Hungry Horse Dam Fisheries Mitigation; Kokanee Stocking and Monitoring in Flathead Lake, 1996 Progress Report.

    Energy Technology Data Exchange (ETDEWEB)

    Carty, Daniel [Fish and Wildlife Service, Kalispell, MT (United States); Knoetek, W. Ladd [Montana Fish, Wildlife and Parks, Kalispell, MT (United States)] Hansen, Barry [Confederated Salish and Kootenai Tribes of the Flathead Nation, Pablo, MT (United States)

    1997-06-01

    Kokanee salmon Oncorhynchus nerka were introduced into Flathead Lake in 1916. The kokanee population declined in the 1960s and 1970s, and kokanee disappeared from Flathead Lake in the late 1980s. Their disappearance has been attributed to the long-term effects of the construction and operation of Hungry Horse and Kerr dams, excessive harvest by anglers, and changes in the lake food web induced by the introduction of opossum shrimp Mysis relicta. Attempts to reestablish kokanee in the Flathead Lake ecosystem between 1988 and 1991 were unsuccessful. In 1991, Montana Fish, Wildlife and Parks (MFWP) and the Confederated Salish and Kootenai Tribes (CSKT) wrote a mitigation plan to restore kokanee to Flathead Lake. In 1993, MFWP, CSKT, and the U.S. Fish and Wildlife Service wrote a mitigation implementation plan that initiated a 5-year test program to use hatchery-reared fish to reintroduce kokanee to the lake. Stocking hatchery-reared kokanee into Flathead Lake began in 1993; the 5-year {open_quotes}kokanee test{close_quotes} started in 1994 and is scheduled to continue through 1998. The annual stocking objective is 1 million yearling kokanee (6-8 in long). Criteria used to evaluate the success of the 5-year test are (1) 30% survival of kokanee 1 year after stocking, (2) yearling-to-adult survival of 10%, and (3) annual harvest of 50,000 kokanee ({ge} 11 in) and fishing effort {ge} 100,000 angler hours.

  17. Neuropeptide Y enhances olfactory mucosa responses to odorant in hungry rats.

    Directory of Open Access Journals (Sweden)

    Julia Negroni

    Full Text Available Neuropeptide Y (NPY plays an important role in regulating appetite and hunger in vertebrates. In the hypothalamus, NPY stimulates food intake under the control of the nutritional status. Previous studies have shown the presence of NPY and receptors in rodent olfactory system, and suggested a neuroproliferative role. Interestingly, NPY was also shown to directly modulate olfactory responses evoked by a food-related odorant in hungry axolotls. We have recently demonstrated that another nutritional cue, insulin, modulates the odorant responses of the rat olfactory mucosa (OM. Therefore, the aim of the present study was to investigate the potential effect of NPY on rat OM responses to odorants, in relation to the animal's nutritional state. We measured the potential NPY modulation of OM responses to odorant, using electro-olfactogram (EOG recordings, in fed and fasted adult rats. NPY application significantly and transiently increased EOG amplitudes in fasted but not in fed rats. The effects of specific NPY-receptor agonists were similarly quantified, showing that NPY operated mainly through Y1 receptors. These receptors appeared as heterogeneously expressed by olfactory neurons in the OM, and western blot analysis showed that they were overexpressed in fasted rats. These data provide the first evidence that NPY modulates the initial events of odorant detection in the rat OM. Because this modulation depends on the nutritional status of the animal, and is ascribed to NPY, the most potent orexigenic peptide in the central nervous system, it evidences a strong supplementary physiological link between olfaction and nutritional processes.

  18. Neuropeptide Y enhances olfactory mucosa responses to odorant in hungry rats.

    Science.gov (United States)

    Negroni, Julia; Meunier, Nicolas; Monnerie, Régine; Salesse, Roland; Baly, Christine; Caillol, Monique; Congar, Patrice

    2012-01-01

    Neuropeptide Y (NPY) plays an important role in regulating appetite and hunger in vertebrates. In the hypothalamus, NPY stimulates food intake under the control of the nutritional status. Previous studies have shown the presence of NPY and receptors in rodent olfactory system, and suggested a neuroproliferative role. Interestingly, NPY was also shown to directly modulate olfactory responses evoked by a food-related odorant in hungry axolotls. We have recently demonstrated that another nutritional cue, insulin, modulates the odorant responses of the rat olfactory mucosa (OM). Therefore, the aim of the present study was to investigate the potential effect of NPY on rat OM responses to odorants, in relation to the animal's nutritional state. We measured the potential NPY modulation of OM responses to odorant, using electro-olfactogram (EOG) recordings, in fed and fasted adult rats. NPY application significantly and transiently increased EOG amplitudes in fasted but not in fed rats. The effects of specific NPY-receptor agonists were similarly quantified, showing that NPY operated mainly through Y1 receptors. These receptors appeared as heterogeneously expressed by olfactory neurons in the OM, and western blot analysis showed that they were overexpressed in fasted rats. These data provide the first evidence that NPY modulates the initial events of odorant detection in the rat OM. Because this modulation depends on the nutritional status of the animal, and is ascribed to NPY, the most potent orexigenic peptide in the central nervous system, it evidences a strong supplementary physiological link between olfaction and nutritional processes.

  19. At the Table with Hungry Ghosts: Intimate Borderwork in Mexico City

    Directory of Open Access Journals (Sweden)

    Jean Duruz

    2011-09-01

    Full Text Available This article focuses on the project of sustaining cultural diversity within global cities’ intimate spaces. Specifically, it sketches the culinary histories of an Anglo-Australian woman (who, in 1968, settled permanently in Mexico and her male partner (who grew up in Mexico; his mother Mexican, his father Cantonese. Drawing on the tools of ‘borderwork’ (Hodge and O’Carroll, the argument positions culturally diverse landscapes of ‘Sydney’, ‘China’ and ‘Mexico City’ as distinct yet overlapping geographies. Meanwhile, analysis of curious moments in the couple’s intersecting histories contributes much fluidity to this cartography. In the process, a company of hungry ghosts appears at the dinner table – ghosts of diversity, diaspora and cosmopolitanism; nostalgia and memory; gender and ethnicity; home and belonging. The article concludes that even when borderwork is conducted amiably behind closed doors, it relies on contradictions for cultural sustenance. At the same time, its tensions resonate with possibilities for creative practice.

  20. Are you hungry? Are you thirsty?--fasting times in elective outpatient pediatric patients.

    Science.gov (United States)

    Engelhardt, Thomas; Wilson, Graham; Horne, Lesley; Weiss, Markus; Schmitz, Achim

    2011-09-01

    This study assessed the duration of pre-operative fasting in children and its impact on the subjective feeling of hunger and thirst prior to elective outpatient anesthesia. Pediatric fasting guidelines are designed to reduce the risk of pulmonary aspiration of gastric contents during general anesthesia, and a fasting regimen of 6-8 h for solids, 4 h for breast milk, and 2 h for clear fluids is commonly used. Anecdotal evidence suggests that fasting times are often excessive. A total of 1350 consecutive healthy children aged fasting times were 12:05 (00:45-21:50) hours and 07:57 (00:05-20:50) hours for solids and fluids, respectively. The majority of children were very hungry or starving (756/1350=56%), but less than a third of all children were very thirsty (361/1350=27%). Duration of solid food fast and severity of hunger correlated for patients fasted from before midnight (r=0.92) but not for food after midnight. No correlation was found for fluid intake and perception of thirst. This study shows that children presenting for elective outpatient surgery are suffering from a considerable amount of pre-operative discomfort because of excessive fasting. Strategies to guarantee minimal fasting at hospital admission are urgently needed. © 2011 Blackwell Publishing Ltd.

  1. Transgene silencing of the Hutchinson-Gilford progeria syndrome mutation results in a reversible bone phenotype, whereas resveratrol treatment does not show overall beneficial effects.

    Science.gov (United States)

    Strandgren, Charlotte; Nasser, Hasina Abdul; McKenna, Tomás; Koskela, Antti; Tuukkanen, Juha; Ohlsson, Claes; Rozell, Björn; Eriksson, Maria

    2015-08-01

    Hutchinson-Gilford progeria syndrome (HGPS) is a rare premature aging disorder that is most commonly caused by a de novo point mutation in exon 11 of the LMNA gene, c.1824C>T, which results in an increased production of a truncated form of lamin A known as progerin. In this study, we used a mouse model to study the possibility of recovering from HGPS bone disease upon silencing of the HGPS mutation, and the potential benefits from treatment with resveratrol. We show that complete silencing of the transgenic expression of progerin normalized bone morphology and mineralization already after 7 weeks. The improvements included lower frequencies of rib fractures and callus formation, an increased number of osteocytes in remodeled bone, and normalized dentinogenesis. The beneficial effects from resveratrol treatment were less significant and to a large extent similar to mice treated with sucrose alone. However, the reversal of the dental phenotype of overgrown and laterally displaced lower incisors in HGPS mice could be attributed to resveratrol. Our results indicate that the HGPS bone defects were reversible upon suppressed transgenic expression and suggest that treatments targeting aberrant progerin splicing give hope to patients who are affected by HGPS.

  2. Hypothyroidism in McCune–Albright Syndrome and Role of Bone Scan in Management of Fibrous Dysplasia: An Unusual Case Scenario with Review of Literature

    Science.gov (United States)

    Kumar, Narvesh; Kheruka, Subhash Chand; Singh, Rani Kunti R.; Ravina, Mudalsha; Dutta, Deepanksha; Gambhir, Sanjay

    2017-01-01

    The McCune–Albright syndrome (MAS) is a triad of café-au-lait skin pigmentation, precocious puberty (PP), and polyostotic fibrous dysplasia of bone (FD). In general, FD seems to be the most common component of MAS but very rarely precocious puberty can be found in association with café-au-lait skin pigmentation in the absence of FD (about 1% of the cases). Therefore, a more clinically relevant definition of MAS is fibrous dysplasia of bone (FD) and at least one of the typical hyperfunctioning endocrinopathy and/or café-au-lait spots, with almost any combination possible. Bone scan can be the modality of choice to look for bone disease burden of fibrous dysplasia in most patients of MAS and may change the management accordingly. Most of the cases of MAS reported worldwide are associated with hyperthyroidism, up to best of our knowledge on the basis of literature search in pubmed and Google; no case was reported with hypothyroidism. Herein, we report a 12-year-old girl diagnosed with MAS and associated hypothyroidism. We have also reviewed the MAS related literature. PMID:28242980

  3. Hypothyroidism in McCune-Albright Syndrome and Role of Bone Scan in Management of Fibrous Dysplasia: An Unusual Case Scenario with Review of Literature.

    Science.gov (United States)

    Kumar, Narvesh; Kheruka, Subhash Chand; Singh, Rani Kunti R; Ravina, Mudalsha; Dutta, Deepanksha; Gambhir, Sanjay

    2017-01-01

    The McCune-Albright syndrome (MAS) is a triad of café-au-lait skin pigmentation, precocious puberty (PP), and polyostotic fibrous dysplasia of bone (FD). In general, FD seems to be the most common component of MAS but very rarely precocious puberty can be found in association with café-au-lait skin pigmentation in the absence of FD (about 1% of the cases). Therefore, a more clinically relevant definition of MAS is fibrous dysplasia of bone (FD) and at least one of the typical hyperfunctioning endocrinopathy and/or café-au-lait spots, with almost any combination possible. Bone scan can be the modality of choice to look for bone disease burden of fibrous dysplasia in most patients of MAS and may change the management accordingly. Most of the cases of MAS reported worldwide are associated with hyperthyroidism, up to best of our knowledge on the basis of literature search in pubmed and Google; no case was reported with hypothyroidism. Herein, we report a 12-year-old girl diagnosed with MAS and associated hypothyroidism. We have also reviewed the MAS related literature.

  4. An activating G{sub s}{alpha} mutation is present in fibrous dysplasia of bone in the McCune-Albright syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Shenker, A.; Weinstein, L.S.; Spiegel, A.M. [National Institutes of Health, Bethesda, MD (United States); Sweet, D.E. [Armed Forces Institute of Pathology, Washington, DC (United States)

    1994-09-01

    McCune-Albright syndrome (MAS) is a sporadic disease characterized by polyostotic fibrous dysplasia, cafe-au-lait spots, and multiple endocrinopathies. The etiology of fibrous dysplasia is unknown. Activating mutations of codon 201 in the gene encoding the {alpha}-subunit of G{sub s}, the G-protein that stimulates adenylyl cyclase, have been found in all affected MAS tissues that have been studied. Initial attempts to amplify DNA from decalcified paraffin-embedded bone specimens from frozen surgical bone specimens from five MAS patients using polymerase chain reaction and allele-specific oligonucleotide hybridization. Most of the cells in four specimens of dysplastic bone contained a heterozygous mutation encoding substitution of Arg{sup 201} of G{sub s}{alpha} with His, but the mutation was barely detectable in peripheral blood specimens from the patients. Only a small amount of mutant allele was detected in a specimen of normal cortical bone from the fifth patient, although this patients had a high proportion of mutation in other, affected tissues. The mosaic distribution of mutant alleles is consistent with an embryological somatic cell mutation of the G{sub s}{alpha} gene in MAS. The presence of an activating mutation of G{sub s}{alpha} in osteoblastic progenitor cells may cause them to exhibit increased proliferation and abnormal differentiation, thereby producing the lesions of fibrous dysplasia. 43 refs., 2 figs.

  5. 99Tcm-MDP bone scan for the diagnosis of SAPHO syndrome%99Tcm-MDP骨显像对SAPHO综合征的诊断价值

    Institute of Scientific and Technical Information of China (English)

    刘晓梅; 魏玲格; 黄建敏

    2011-01-01

    Objective To investigate the clinical value of bone scintigraphy for the diagnosis of synovitis, acne, pustulosis, hyperostosis and osteitis (SAPHO) syndrome. Methods The characteristics of SAPHO syndrome on 99Tcm-MDP imaging of 8 cases were retrospectively analyzed. Results The 99TcmMDP bone scan was positive for all patients. Seven cases were found lesions in the costoclavicular region, 3cases involved with unilateral sacroiliac joint, 2 cases involved with spine and 1 patient with extremity. Four lesions were found without relevant clinical symptoms. Conclusion Bone scintigraphy is useful for the diagnosis of SAPHO syndrome, especially for those lesions with no clinical symptoms.%目的 探讨骨显像在滑膜炎、痤疮、脓疱病、骨肥厚、骨炎(SAPHO)综合征诊断中的临床价值.方法 回顾性分析8例SAPHO综合征的临床表现及99Tcm-MDP骨显像结果.结果 8例SAPHO综合征患者骨显像均阳性,前上胸壁异常放射性浓聚灶7例,单侧骶髂关节受累3例,颈、胸、腰椎体受累2例,肱骨及手足小关节受累1例,且发现了4处无症状的病灶.结论 骨显像的部分特征性表现有助于早期诊断及发现全身没有症状的病灶.

  6. Discussion on Bone Cement Implantation Syndrome ICD-10 Coding%骨水泥植入综合征ICD-10编码的探讨

    Institute of Scientific and Technical Information of China (English)

    刘颖

    2016-01-01

    Clinical syndrome is a variety of clinical manifestations characterized diagnosis name caused by different causes of unknown etiology. As an independent disease diagnosis, it brings certain difficulty of ICD coding. In this paper, we take bone cement implantation syndrome for example. We had not been found the corresponding code after looking for the main word "Syndrome", "disease" and "disorder" in ICD-10 book Ⅲ index table. Through referring to the relevant medical information, and timely communicating with the clinician, we had the further understanding for its etiology, pathogenesis, clinical manifestations, etc, stripping external representation and dig the nature of the disease, find out the most main pathogenesis of bone cement implantation syndrome, follow the ICD coding rules, eventually give correct classification of diseases T88.7. This article discussed ICD-10 code process of bone cement implantation syndrome, in order to communicate with peers, and improve the quality of diagnostic codes.%临床综合征是以病因不明或不同病因并存而引起的多种临床表现为特征的诊断名称,作为非独立的疾病诊断,给 ICD 编码的查找工作带来一定难度.本文以骨水泥植入综合征为例,在 ICD-10 卷三索引表中对主导词"综合征"、"病"、"疾患"等查询,均未查到与之对应的编码.通过查阅相关医学资料,并及时与临床医师沟通,对其病因、发病机制、临床表现等方面有了进一步了解,剥去外在表象探索疾病的本质,找出引起骨水泥植入综合征最主要的发病机制,遵循 ICD 编码规则,最终给予正确疾病分类 T88.7.通过对骨水泥植入综合征的 ICD-10 编码过程加以阐述,以期与同行交流,提高疾病诊断编码质量.

  7. Multilevel Approach of a 1-Year Program of Dietary and Exercise Interventions on Bone Mineral Content and Density in Metabolic Syndrome – the RESOLVE Randomized Controlled Trial

    Science.gov (United States)

    Courteix, Daniel; Valente-dos-Santos, João; Ferry, Béatrice; Lac, Gérard; Lesourd, Bruno; Chapier, Robert; Naughton, Geraldine; Marceau, Geoffroy; João Coelho-e-Silva, Manuel; Vinet, Agnès; Walther, Guillaume; Obert, Philippe; Dutheil, Frédéric

    2015-01-01

    Background Weight loss is a public health concern in obesity-related diseases such as metabolic syndrome (MetS). However, restrictive diets might induce bone loss. The nature of exercise and whether exercise with weight loss programs can protect against potential bone mass deficits remains unclear. Moreover, compliance is essential in intervention programs. Thus, we aimed to investigate the effects that modality and exercise compliance have on bone mineral content (BMC) and density (BMD). Methods We investigated 90 individuals with MetS who were recruited for the 1-year RESOLVE trial. Community-dwelling seniors with MetS were randomly assigned into three different modalities of exercise (intensive resistance, intensive endurance, moderate mixed) combined with a restrictive diet. They were compared to 44 healthy controls who did not undergo the intervention. Results This intensive lifestyle intervention (15–20 hours of training/week + restrictive diet) resulted in weight loss, body composition changes and health improvements. Baseline BMC and BMD for total body, lumbar spine and femoral neck did not differ between MetS groups and between MetS and controls. Despite changes over time, BMC or BMD did not differ between the three modalities of exercise and when compared with the controls. However, independent of exercise modality, compliant participants increased their BMC and BMD compared with their less compliant peers. Decreases in total body lean mass and negative energy balance significantly and independently contributed to decreases in lumbar spine BMC. Conclusion After the one year intervention, differences relating to exercise modalities were not evident. However, compliance with an intensive exercise program resulted in a significantly higher bone mass during energy restriction than non-compliance. Exercise is therefore beneficial to bone in the context of a weight loss program. Trial Registration ClinicalTrials.gov NCT00917917 PMID:26376093

  8. Are adult patients with Laron syndrome osteopenic? A comparison between dual-energy X-ray absorptiometry and volumetric bone densities.

    Science.gov (United States)

    Benbassat, Carlos A; Eshed, Varda; Kamjin, Moshe; Laron, Zvi

    2003-10-01

    Severe short stature resulting from a deficiency in IGF-I is a prominent feature of Laron syndrome (LS). Although low bone mineral density (BMD) has been noted in LS patients examined by dual energy x-ray absorptiometry (DEXA), this technique does not take volume into account and may therefore underestimate the true bone density in patients with small bones. The aim of the present study was to evaluate the BMD yielded by DEXA in our LS patients using estimated volumetric values. Volumetric density was calculated with the following formulas: bone mineral apparent density (BMAD) = bone mineral content (BMC)/(area)(3/2) for the lumbar spine and BMAD = BMC/area(2) for the femoral neck. The study sample included 12 patients (mean age, 43.9 yr; mean height, 123.7 cm). Findings were compared with 10 osteopenic subjects without developmental abnormalities (mean age, 56 yr; mean height, 164.8 cm) and 10 healthy control subjects matched for sex and age to the LS patients (mean height, 165.5 cm). BMAD in the LS group was 0.201 +/- 0.02 g/cm(3) at the lumbar spine and 0.201 +/- 0.04 g/cm(3) at the femoral neck; corresponding values for the osteopenic group were 0.130 +/- 0.01 and 0.140 +/- 0.01 g/cm(3), and for the controls, 0.178 +/- 0.03 and 0.192 +/- 0.02 g/cm(3). Although areal BMD was significantly lower in the LS and osteopenic subjects compared with controls (P < 0.02) at both the lumbar spine and femoral neck, BMAD was low (P < 0.01) in the osteopenic group only. In conclusion, DEXA does not seem to be a reliable measure of osteoporosis in patients with LS.

  9. Multilevel Approach of a 1-Year Program of Dietary and Exercise Interventions on Bone Mineral Content and Density in Metabolic Syndrome--the RESOLVE Randomized Controlled Trial.

    Science.gov (United States)

    Courteix, Daniel; Valente-dos-Santos, João; Ferry, Béatrice; Lac, Gérard; Lesourd, Bruno; Chapier, Robert; Naughton, Geraldine; Marceau, Geoffroy; João Coelho-e-Silva, Manuel; Vinet, Agnès; Walther, Guillaume; Obert, Philippe; Dutheil, Frédéric

    2015-01-01

    Weight loss is a public health concern in obesity-related diseases such as metabolic syndrome (MetS). However, restrictive diets might induce bone loss. The nature of exercise and whether exercise with weight loss programs can protect against potential bone mass deficits remains unclear. Moreover, compliance is essential in intervention programs. Thus, we aimed to investigate the effects that modality and exercise compliance have on bone mineral content (BMC) and density (BMD). We investigated 90 individuals with MetS who were recruited for the 1-year RESOLVE trial. Community-dwelling seniors with MetS were randomly assigned into three different modalities of exercise (intensive resistance, intensive endurance, moderate mixed) combined with a restrictive diet. They were compared to 44 healthy controls who did not undergo the intervention. This intensive lifestyle intervention (15-20 hours of training/week + restrictive diet) resulted in weight loss, body composition changes and health improvements. Baseline BMC and BMD for total body, lumbar spine and femoral neck did not differ between MetS groups and between MetS and controls. Despite changes over time, BMC or BMD did not differ between the three modalities of exercise and when compared with the controls. However, independent of exercise modality, compliant participants increased their BMC and BMD compared with their less compliant peers. Decreases in total body lean mass and negative energy balance significantly and independently contributed to decreases in lumbar spine BMC. After the one year intervention, differences relating to exercise modalities were not evident. However, compliance with an intensive exercise program resulted in a significantly higher bone mass during energy restriction than non-compliance. Exercise is therefore beneficial to bone in the context of a weight loss program. ClinicalTrials.gov NCT00917917.

  10. Multilevel Approach of a 1-Year Program of Dietary and Exercise Interventions on Bone Mineral Content and Density in Metabolic Syndrome--the RESOLVE Randomized Controlled Trial.

    Directory of Open Access Journals (Sweden)

    Daniel Courteix

    Full Text Available Weight loss is a public health concern in obesity-related diseases such as metabolic syndrome (MetS. However, restrictive diets might induce bone loss. The nature of exercise and whether exercise with weight loss programs can protect against potential bone mass deficits remains unclear. Moreover, compliance is essential in intervention programs. Thus, we aimed to investigate the effects that modality and exercise compliance have on bone mineral content (BMC and density (BMD.We investigated 90 individuals with MetS who were recruited for the 1-year RESOLVE trial. Community-dwelling seniors with MetS were randomly assigned into three different modalities of exercise (intensive resistance, intensive endurance, moderate mixed combined with a restrictive diet. They were compared to 44 healthy controls who did not undergo the intervention.This intensive lifestyle intervention (15-20 hours of training/week + restrictive diet resulted in weight loss, body composition changes and health improvements. Baseline BMC and BMD for total body, lumbar spine and femoral neck did not differ between MetS groups and between MetS and controls. Despite changes over time, BMC or BMD did not differ between the three modalities of exercise and when compared with the controls. However, independent of exercise modality, compliant participants increased their BMC and BMD compared with their less compliant peers. Decreases in total body lean mass and negative energy balance significantly and independently contributed to decreases in lumbar spine BMC.After the one year intervention, differences relating to exercise modalities were not evident. However, compliance with an intensive exercise program resulted in a significantly higher bone mass during energy restriction than non-compliance. Exercise is therefore beneficial to bone in the context of a weight loss program.ClinicalTrials.gov NCT00917917.

  11. The very hungry people: By hand of nature, politics, and beauty

    Directory of Open Access Journals (Sweden)

    Çiğdem Kara

    2014-03-01

    Full Text Available In this study, the subject is what people ate and how they transformed during the period of drought in Ottoman at 1945 and 1869-1875; Salvation, First and Second World Wars; hunger strike after 1980 and anorexia nervosa patients. There are three purposes to be achieved: to describe the very hungry people, to create a model of the hunger, and to detect transformed human (in both physiological and cultural by hunger. The categories developed with the influence of structuralism are used to determine common aspects of four different hungers and the fundamental structures of the human mind against hunger, and to detect the differences between menu of hunger and fullness. The categories are as follows: Food phases and cooking methods (Claude Lévi-Strauss, meal (Mary Douglas and the nature of consumption and social layer of consumers (Pierre Bourdieu. Some of the data which is obtained at the end of the study are as the following: External circumstances are made pressure on the people at all kind hungers. People are remain hunger as necessary (drought and wars or as a result of personal decision (strike and anorexia. The very hungers are agent of specific social layers (low-income city dwellers, peasants, women and opponents. Fullness of the hungers are possible by removed external circumstances are caused to hunger. But it is the possible that worn out human body by hunger is never fully recovered. The hunger body is generally sick and dirty. Sometimes it is faced to death. Daily diet of hungers which is different from the full people, is consisted of culturally inedible things or only liquid. It is less number of daily meal and amount of the consuming things than the full people. Discharge might be a part of the daily diet of the hungers (anorexia. Because of effect of consuming things or physiological.

  12. Wildlife Loss Estimates and Summary of Previous Mitigation Related to Hydroelectric Projects in Montana, Volume Three, Hungry Horse Project.

    Energy Technology Data Exchange (ETDEWEB)

    Casey, Daniel

    1984-10-01

    This assessment addresses the impacts to the wildlife populations and wildlife habitats due to the Hungry Horse Dam project on the South Fork of the Flathead River and previous mitigation of theses losses. In order to develop and focus mitigation efforts, it was first necessary to estimate wildlife and wildlife hatitat losses attributable to the construction and operation of the project. The purpose of this report was to document the best available information concerning the degree of impacts to target wildlife species. Indirect benefits to wildlife species not listed will be identified during the development of alternative mitigation measures. Wildlife species incurring positive impacts attributable to the project were identified.

  13. Bone tumor

    Science.gov (United States)

    Tumor - bone; Bone cancer; Primary bone tumor; Secondary bone tumor; Bone tumor - benign ... The cause of bone tumors is unknown. They often occur in areas of the bone that grow rapidly. Possible causes include: Genetic defects ...

  14. Temporal bone anomalies in the branchio-oto-renal syndrome: detailed computed tomographic and magnetic resonance imaging findings.

    NARCIS (Netherlands)

    Ceruti, S.; Stinckens, C.I.C.; Cremers, C.W.R.J.; Casselman, J.W.

    2002-01-01

    OBJECTIVE: To inventory computed tomographic and magnetic resonance imaging findings in the branchio-oto-renal (BOR) syndrome. STUDY DESIGN: A prospective computed tomographic and magnetic resonance imaging study on a family with the BOR syndrome. SETTING: Department of medical imaging and magnetic

  15. Temporal bone anomalies in the branchio-oto-renal syndrome: detailed computed tomographic and magnetic resonance imaging findings.

    NARCIS (Netherlands)

    Ceruti, S.; Stinckens, C.I.C.; Cremers, C.W.R.J.; Casselman, J.W.

    2002-01-01

    OBJECTIVE: To inventory computed tomographic and magnetic resonance imaging findings in the branchio-oto-renal (BOR) syndrome. STUDY DESIGN: A prospective computed tomographic and magnetic resonance imaging study on a family with the BOR syndrome. SETTING: Department of medical imaging and magnetic

  16. Effect of recombinant human growth hormone on changes in height, bone mineral density, and body composition over 1-2 years in children with Hurler or Hunter syndrome.

    Science.gov (United States)

    Polgreen, Lynda E; Thomas, William; Orchard, Paul J; Whitley, Chester B; Miller, Bradley S

    2014-02-01

    Patients with Hurler or Hunter syndrome typically have moderate to severe growth deficiencies despite therapy with allogeneic hematopoietic stem cell transplantation and/or enzyme replacement therapy. It is unknown whether treatment with recombinant human growth hormone (hGH) can improve growth in these children. The objectives of this study were to determine the effects of hGH on growth, bone mineral density (BMD), and body composition in children with Hurler or Hunter syndrome enrolled in a longitudinal observational study. The difference in annual change in outcomes between hGH treated and untreated subjects was estimated by longitudinal regression models that adjusted for age, Tanner stage, and sex where appropriate. We report on 23 participants who completed at least 2 annual study visits (10 [43%] treated with hGH): Hurler syndrome (n=13) average age of 9.8 ± 3.1 years (range 5.3-13.6 years; 54% female) and Hunter syndrome (n=10) average age of 12.0 ± 2.7 years (range 7.0-17.0 years; 0% female). As a group, children with Hurler or Hunter syndrome treated with hGH had no difference in annual change in height (growth velocity) compared to those untreated with hGH. Growth velocity in hGH treated individuals ranged from -0.4 to 8.1cm/year and from 0.3 to 6.6 cm/year in the untreated individuals. Among children with Hunter syndrome, 100% (N=4) of those treated but only 50% of those untreated with hGH had an annual increase in height standard deviation score (SDS). Of the individuals treated with hGH, those with GHD had a trend towards higher annualized growth velocity compared to those without GHD (6.5 ± 1.9 cm/year vs. 3.5 ± 2.1cm/year; p=.050). Children treated with hGH had greater annual gains in BMD and lean body mass. In conclusion, although as a group we found no significant difference in growth between individuals treated versus not treated with hGH, individual response was highly variable and we are unable to predict who will respond to treatment. Thus

  17. Gorlin syndrome

    Directory of Open Access Journals (Sweden)

    Basanti Devi

    2013-01-01

    Full Text Available Gorlin Syndrome, a rare genodermatosis, otherwise known as Nevoid basal cell carcinoma syndrome (NBCCS is a multisystem disease affecting skin, nervous system, eyes, endocrine glands, and bones. It is characterized by multiple basal cell carcinomas, palmoplantar pits, jaw cysts, and bony deformities like kyphoscoliosis and frontal bossing. We would like to report a case of Gorlin syndrome with classical features, as this is a rare genodermatosis.

  18. Gorlin syndrome.

    Science.gov (United States)

    Devi, Basanti; Behera, Binodini; Patro, Sibasish; Pattnaik, Subhransu S; Puhan, Manas R

    2013-05-01

    Gorlin Syndrome, a rare genodermatosis, otherwise known as Nevoid basal cell carcinoma syndrome (NBCCS) is a multisystem disease affecting skin, nervous system, eyes, endocrine glands, and bones. It is characterized by multiple basal cell carcinomas, palmoplantar pits, jaw cysts, and bony deformities like kyphoscoliosis and frontal bossing. We would like to report a case of Gorlin syndrome with classical features, as this is a rare genodermatosis.

  19. Revesz syndrome

    Directory of Open Access Journals (Sweden)

    Dayane Cristine Issaho

    2015-04-01

    Full Text Available Revesz syndrome is a rare variant of dyskeratosis congenita and is characterized by bilateral exudative retinopathy, alterations in the anterior ocular segment, intrauterine growth retardation, fine sparse hair, reticulate skin pigmentation, bone marrow failure, cerebral calcification, cerebellar hypoplasia and psychomotor retardation. Few patients with this syndrome have been reported, and significant clinical variations exist among patients. This report describes the first Brazilian case of Revesz syndrome and its ocular and clinical features.

  20. Combination Chemotherapy With or Without Bone Marrow Transplantation in Treating Children With Acute Myelogenous Leukemia or Myelodysplastic Syndrome

    Science.gov (United States)

    2013-01-15

    Childhood Acute Erythroleukemia (M6); Childhood Acute Megakaryocytic Leukemia (M7); Childhood Acute Monoblastic Leukemia (M5a); Childhood Acute Monocytic Leukemia (M5b); Childhood Acute Myeloblastic Leukemia With Maturation (M2); Childhood Acute Myeloblastic Leukemia Without Maturation (M1); Childhood Acute Myelomonocytic Leukemia (M4); Childhood Myelodysplastic Syndromes; Chronic Myelomonocytic Leukemia; de Novo Myelodysplastic Syndromes; Refractory Anemia; Refractory Anemia With Excess Blasts; Refractory Anemia With Excess Blasts in Transformation; Refractory Anemia With Ringed Sideroblasts; Secondary Myelodysplastic Syndromes; Untreated Childhood Acute Myeloid Leukemia and Other Myeloid Malignancies

  1. Quantification of Hungry Horse Reservoir Water Levels Needed to Maintain or Enhance Reservoir Fisheries, 1985 Annual Report.

    Energy Technology Data Exchange (ETDEWEB)

    May, Bruce

    1986-06-01

    The Pacific Northwest Electric Power Planning and Conservation Act, passed in 1980 by Congress, has provided a mechanism which integrates and provides for stable energy planning in the Pacific Northwest. The Act created the Northwest Power Planning Council and charged the Council with developing a comprehensive fish and wildlife program to protect and enhance fish and wildlife impacted by hydroelectric development in the Columbia River Basin. Bonneville Power Administration (BPA) is one of the many agencies implementing the Council's program. The Hungry Horse Reservoir (HHR) study is part of the Council's program. This study proposes to quantify seasonal water levels needed to maintain or enhance principal gamefish species in Hungry Horse Reservoir. The specific study objectives are: (1) Quantify the amount of reservoir habitat available at different water level elevations; (2) Estimate recruitment of westslope cutthroat trout juveniles from important spawning and nursery areas; (3) Determine the abundance, growth, distribution and use of available habitat by major game species in the reservoir; (4) Determine the abundance and availability of fish food organisms in the reservoir; (5) Quantify the seasonal use of available food items by major fish species; (6) Develop relationships between reservoir drawdown and reservoir habitat use by fish and fish food organisms; and (7) Estimate the impact of reservoir operation on major gamefish species.

  2. Quantification of Hungry Horse Reservoir Water Levels Needed to Maintain or Enhance Reservoir Fisheries, 1983-1985 Summary Report.

    Energy Technology Data Exchange (ETDEWEB)

    May, Bruce

    1985-06-01

    The Pacific Northwest Electric Power Planning and Conservation Act passed in 1980 by Congress has provided a mechanism which integrates and provides for stable energy planning in the Pacific Northwest. The Act created the Northwest Power Planning Council and charged the Council with developing a comprehensive fish and wildlife program to protect and enhance fish and wildlife impacted by hydroelectric development in the Columbia River Basin. Implementation of the plan is being carried out by the Bonneville Power Administration. The Hungry Horse Reservoir study is part of that Council's plan. This study proposes to quantify seasonal water levels needed to maintain or enhance principal gamefish species in Hungry Horse Reservoir. The specific study objects are listed below. (1) Quantify the amount of reservoir habitat available at different water level elevations; (2) Estimate recruitment of westslope cutthroat trout juveniles from important spawning and nursery tributaries; (3) Determine the abundance, growth, distribution and use of available habitat by major game species in the reservoir; (4) Determine the abundance and availability of fish food organisms in the reservoir; (5) Quantify the seasonal use of available food items by major fish species; (6) Develop relationships between reservoir drawdown and reservoir habitat used by fish and fish food organisms; and (7) Estimate the impact of reservoir operation on major gamefish species.

  3. Determination of Fishery Losses in the Flathead System Resulting from the Construction of Hungry Horse Dam, 1986 Final Completion Report.

    Energy Technology Data Exchange (ETDEWEB)

    Zubik, Raymond J.; Fraley, John

    1987-01-01

    This study is part of the Northwest Power Planning Council's residential fish and wildlife plan, which is responsible for mitigating damages to fish and wildlife resources caused by hydroelectric development in the Columbia River basin. The major goal of this study was to provide estimates of fishery losses to the Flathead system as a result of the completion of Hungry Horse Dam and to propose mitigation alternatives for enhancing the fishery. Construction of Hungry Horse Dam had the greatest adverse impacts on cutthroat and full trout from Flathead Lake and mitigative measures should be taken to offset these losses, if biologically and economically feasible. Also, other losses to fish and wildlife have been documented in the Flathead basin due to hydroelectric facilities and their operation. Some of these research projects will not be completed until 1989, when mitigation will be recommended using a basin-wide approach. Since HHR is at the headwaters of the Columbia system, mitigative measures may also affect downstream projects. Therefore, we presented an array of possible mitigation alternatives for consideration by decision-makers, with suggestions on the ones we feel are the most cost effective. Possible mitigation measures are included.

  4. Quantification of Hungry Horse Reservoir Water Levels Needed to Maintain or Enhance Reservoir Fisheries, 1983-1985 Summary Report.

    Energy Technology Data Exchange (ETDEWEB)

    May, Bruce

    1985-06-01

    The Pacific Northwest Electric Power Planning and Conservation Act passed in 1980 by Congress has provided a mechanism which integrates and provides for stable energy planning in the Pacific Northwest. The Act created the Northwest Power Planning Council and charged the Council with developing a comprehensive fish and wildlife program to protect and enhance fish and wildlife impacted by hydroelectric development in the Columbia River Basin. Implementation of the plan is being carried out by the Bonneville Power Administration. The Hungry Horse Reservoir study is part of that Council's plan. This study proposes to quantify seasonal water levels needed to maintain or enhance principal gamefish species in Hungry Horse Reservoir. The specific study objects are listed below. (1) Quantify the amount of reservoir habitat available at different water level elevations; (2) Estimate recruitment of westslope cutthroat trout juveniles from important spawning and nursery tributaries; (3) Determine the abundance, growth, distribution and use of available habitat by major game species in the reservoir; (4) Determine the abundance and availability of fish food organisms in the reservoir; (5) Quantify the seasonal use of available food items by major fish species; (6) Develop relationships between reservoir drawdown and reservoir habitat used by fish and fish food organisms; and (7) Estimate the impact of reservoir operation on major gamefish species.

  5. Quantification of Hungry Horse Reservoir Water Levels Needed to Maintain or Enhance Reservoir Fisheries, 1986 Annual Report.

    Energy Technology Data Exchange (ETDEWEB)

    May, Bruce; Weaver, Tom (Montana Department of Fish, Wildlife and Parks, Kalispell, MT)

    1987-06-01

    The Hungry Horse Reservoir study is part of the Northwest Power Planning Council's resident fish and wildlife plan. The plan is responsible for mitigating damages to the fish and wildlife resources caused by hydroelectric development in the Columbia River Basin. The major goal of our study is to quantify seasonal water levels needed to maintain or enhance the reservoir fishery. This study began in May 1983 and is scheduled for completion in 1988. This report contains a summary of the limnological, food habits, fish abundance and fish distribution data collected primarily in 1986. A thorough statistical analysis of the data will be presented in the completion report in 1988. This study proposes to quantify seasonal water levels needed to maintain or enhance principal game fish species in Hungry Horse Reservoir. The specific study objectives are: (1) Estimate the impact of reservoir operation on major game fish species; (2) Develop relationships between reservoir drawdown and reservoir habitat use by fish and fish food organisms; (3) Quantify the amount of reservoir habitat available at different water level elevations; (4) Estimate recruitment of westslope cutthroat trout juveniles from important spawning and nursery areas; (5) Determine the abundance, growth, distribution and use of available habitat by major game species in the reservoir; (6) Determine the abundance and availability of fish food organisms in the reservoir; and (7) Quantify the seasonal use of available food items by major fish species.

  6. Genetically modified bone marrow continuously supplies anti-inflammatory cells and suppresses renal injury in mouse Goodpasture syndrome.

    Science.gov (United States)

    Yokoo, T; Ohashi, T; Utsunomiya, Y; Shen, J S; Hisada, Y; Eto, Y; Kawamura, T; Hosoya, T

    2001-07-01

    In chronic inflammation, macrophages and neutrophils, which are derived from bone marrow, play a pivotal role. Therefore, reconstitution of bone marrow with anti-inflammatory stem cells may modify inflammation. In this study, transplantation-based gene therapy was applied to glomerular inflammation for a long-lasting suppression of the glomerular damage seen in chronic nephritis. Bone marrow cells were harvested from male donor mice, which had received 5-fluorouracil 3 days previously, and transduced with an interleukin 1 (IL-1) receptor antagonist (IL-1Ra) or a mock gene using a retrovirus vector. After confirmation that transduced cells possessed the transgene at approximately 0.7 copies per cell and secreted recombinant IL-1Ra, these cells were infused into sublethally irradiated (6 Gy) female recipients once daily for 4 consecutive days. These female recipient mice had the male Y antigen in bone marrow, liver, and spleen, and 10% to 20% of their spleen cells possessed the transgene even 8 weeks after transplantation. Glomerulonephritis was then induced in these mice. Renal function and histology were retarded in the mice whose bone marrow was reconstituted with IL-1Ra-producing cells compared with mock transduced cells. In situ hybridization using a Y painting probe revealed that transplanted donor cells were recruited into the glomerulus upon induction of nephritis, suggesting therapeutic effects were channeled through the secretion of IL-1Ra from these cells. Furthermore, the survival rate after a second challenge with nephrotoxic antibody was significantly improved in the IL-1Ra chimera. These results suggest that reconstitution of bone marrow for continuous supply of anti-inflammatory cells may be a useful strategy for the treatment of chronic inflammation.

  7. NS-018, a selective JAK2 inhibitor, preferentially inhibits CFU-GM colony formation by bone marrow mononuclear cells from high-risk myelodysplastic syndrome patients.

    Science.gov (United States)

    Kuroda, Junya; Kodama, Ayumi; Chinen, Yoshiaki; Shimura, Yuji; Mizutani, Shinsuke; Nagoshi, Hisao; Kobayashi, Tsutomu; Matsumoto, Yosuke; Nakaya, Yohei; Tamura, Ayako; Kobayashi, Yutaka; Naito, Haruna; Taniwaki, Masafumi

    2014-05-01

    JAK2/STAT signaling promotes survival and expansion of myelodysplastic syndrome (MDS) clones, but little is known about the potential of JAK2/STAT as a therapeutic target in MDS. We investigated the effect of NS-018, a novel antagonist for JAK2, on the colony-forming ability of bone marrow mononuclear cells (BMMNCs) from high-risk MDS patients. NS-018 decreased colony-forming unit-granulocyte/macrophage (CFU-GM) colony numbers from MDS-derived BMMNCs in a dose-dependent manner, and this effect was significantly more potent than against normal BMMNCs. In addition, NS-018 suppressed the phosphorylation of STAT3 in colony-forming cells from MDS patients. Collectively, NS-018 could be a new therapeutic option for high-risk MDS.

  8. Metabolic bone disease as a presenting manifestation of primary Sjögren′s syndrome: Three cases and review of literature

    Directory of Open Access Journals (Sweden)

    Deepak Khandelwal

    2011-01-01

    Full Text Available Primary Sjögren′s syndrome (pSS is a chronic autoimmune disease characterized by a progressive lymphocytic infiltration of the exocrine glands with varying degrees of systemic involvement. Chronic inflammation compromises the glands′ function that leads to dry symptoms in the mouth/eyes. Renal involvement is a well recognized extraglandular manifestation of pSS. Metabolic bone disease (MBD, however, rarely occurs as the primary manifestation of a renal tubule disorder due to pSS. To the best of our knowledge there are only 6 reported cases of metabolic bone disease as the primary manifestation of pSS to date. Four of these had distal renal tubular acidosis (RTA, and 2 had a combined picture of distal and proximal tubular dysfunction. We herein present our experience of 3 cases who presented to us with a clinical picture suggestive of MBD. While investigating these patients, we found evidence of RTA, which was found to be secondary to pSS.

  9. IL-5 drives eosinophils from bone marrow to blood and tissues in a guinea-pig model of visceral larva migrans syndrome

    Directory of Open Access Journals (Sweden)

    L. H. Faccioli

    1996-01-01

    Full Text Available This study was undertaken to evaluate the role of IL-5 in eosinophil migration and in the maintenance of eosinophilia in a guinea-pig model of visceral larva migrans syndrome. The results show that the infection of animals with Toxocara canis induced an early increase in serum IL-5 levels that might be essential for eosinophil differentiation and proliferation and for the development of eosinophilia. When infected guinea-pigs were treated with mAb anti-IL-5 (TRFK-5 given at the same time or 1 or 3 days after infection, there was a high percentage of reduction of eosinophil counts 18 days after infection. However, when the mAb was administered during the peak of eosinophilia, there was high inhibition in blood, no inhibition in bronchoalveolar lavage fluid (BALF or peritoneum and an increase in eosinophil numbers in bone marrow. Thus, a basic level of IL-5 may be essential to drive eosinophils from bone marrow to blood and tissues, and for the maintenance of eosinophilia in infected animals. We may also conclude that when eosinophils have already migrated to the lungs, TRFK-5 has no power to inhibit eosinophilia, which is also under control of local lung cells producing IL-5. In this way, only one later TRFK-5 treatment may not be sufficient to modify the lung parenchyma microenvironment, since T. canis antigens had already stimulated some cell populations to produce IL-5.

  10. Bone marrow transplantation as an established approach for understanding the role of macrophages in atherosclerosis and the metabolic syndrome

    NARCIS (Netherlands)

    Aparicio-Vergara, Marcela; Shiri-Sverdlov, Ronit; Koonen, Debby P. Y.; Hofker, Marten H.

    2012-01-01

    Purpose of review Bone marrow transplantation (BMT) technology is a firmly established tool for studying atherosclerosis. Only recently it is helping us to understand the inflammatory mechanisms leading to the development of obesity, insulin resistance and type 2 diabetes. Here we review the use of

  11. Limited numbers of apoptotic cells in fresh paraffin embedded bone marrow samples of patients with myelodysplastic syndrome

    NARCIS (Netherlands)

    Brada, SJL; van de Loosdrecht, AA; Koudstaal, J; de Wolf, JTM; Vellenga, E

    2004-01-01

    In myelodysplasia (MDS) the precise mechanism of ineffective erythropoiesis is not fully elucidated, but it is suggested that apoptosis may contribute to this process. We performed TdT-mediated dUTP-nick end labelling (TUNEL) staining of paraffin embedded bone marrow specimens to assess the amount o

  12. Limited numbers of apoptotic cells in fresh paraffin embedded bone marrow samples of patients with myelodysplastic syndrome

    NARCIS (Netherlands)

    Brada, SJL; van de Loosdrecht, AA; Koudstaal, J; de Wolf, JTM; Vellenga, E

    In myelodysplasia (MDS) the precise mechanism of ineffective erythropoiesis is not fully elucidated, but it is suggested that apoptosis may contribute to this process. We performed TdT-mediated dUTP-nick end labelling (TUNEL) staining of paraffin embedded bone marrow specimens to assess the amount

  13. Concise review: bone marrow mononuclear cells for the treatment of ischemic syndromes: medicinal product or cell transplantation?

    Science.gov (United States)

    Cuende, Natividad; Rico, Laura; Herrera, Concha

    2012-05-01

    In November of 2011, the Committee for Advanced Therapies (CAT) of the European Medicines Agency (EMA) published two scientific recommendations regarding the classification of autologous bone marrow-derived mononuclear cells (BM-MNCs) and autologous bone marrow-derived CD133+ cells as advanced therapy medicinal products (ATMPs), specifically tissue-engineered products, when intended for regeneration in ischemic heart tissue on the basis that they are not used for the same essential function (hematological restoration) that they fulfill in the donor. In vitro and in vivo evidence demonstrates that bone marrow cells are physiologically involved in adult neovascularization and tissue repair, making their therapeutic use for these purposes a simple exploitation of their own essential functions. Therefore, from a scientific/legal point of view, nonsubstantially manipulated BM-MNCs and CD133+ cells are not an ATMP, because they have a physiological role in the processes of postnatal neovascularization and, when used therapeutically for vascular restoration in ischemic tissues, they are carrying out one of their essential physiological functions (the legal definition recognizes that cells can have several essential functions). The consequences of classifying BM-MNCs and CD133+ cells as medicinal products instead of cellular transplantation, like bone marrow transplantation, in terms of costs and time for these products to be introduced into clinical practice, make this an issue of crucial importance. Therefore, the recommendations of EMA/CAT could be reviewed in collaboration with scientific societies, in light of organizational and economic consequences as well as scientific knowledge recently acquired about the mechanisms of postnatal neovascularization and the function of bone marrow in the regeneration of remote tissues.

  14. Increased bone formation and decreased osteocalcin expression induced by reduced Twist dosage in Saethre-Chotzen syndrome

    OpenAIRE

    2001-01-01

    The Saethre-Chotzen syndrome is characterized by premature fusion of cranial sutures resulting from mutations in Twist, a basic helix-loop-helix (bHLH) transcription factor. We have identified Twist target genes using human mutant calvaria osteoblastic cells from a child with Saethre-Chotzen syndrome with a Twist mutation that introduces a stop codon upstream of the bHLH domain. We observed that Twist mRNA and protein levels were reduced in mutant cells and that the Twist mutation increased c...

  15. Severe hypertelorism, midface prominence, prominent/simple ears, severe myopia, borderline intelligence, and bone fragility in two brothers: new syndrome?

    Science.gov (United States)

    Hamamy, Hanan A; Teebi, Ahmad S; Oudjhane, Kamaldine; Shegem, N N; Ajlouni, K M

    2007-02-01

    We report on two brothers, born to double first cousin Jordanian Arab parents, with a syndrome comprising severe hypertelorism with upslanted palpebral fissures, brachycephaly, abnormal ears, sloping shoulders, enamel hypoplasia, and osteopenia with repeated fractures. Both have severe myopia, mild to moderate sensori-neural hearing loss and borderline intelligence. Results of chromosome analysis were normal as was a FISH assay for subtelomeric rearrangements. The father has mild hypertelorism but the family history is otherwise unremarkable. We think that this represents a previously unrecognized autosomal or X-linked recessive syndrome.

  16. Correlation between absence of bone remodeling compartment canopies, reversal phase arrest, and deficient bone formation in post-menopausal osteoporosis

    DEFF Research Database (Denmark)

    Levin Andersen, Thomas; Hauge, Ellen M; Rolighed, Lars;

    2014-01-01

    Bone remodeling compartments (BRCs) were recently recognized to be present in patients with primary hyperparathyroidism and critical for bone reconstruction in multiple myeloma and endogenous Cushing's syndrome. The BRCs are outlined by a cellular canopy separating the bone remodeling events...

  17. Terminal-Nerve-Derived Neuropeptide Y Modulates Physiological Responses in the Olfactory Epithelium of Hungry Axolotls (Ambystoma mexicanum)

    Science.gov (United States)

    Mousley, Angela; Polese, Gianluca; Marks, Nikki J.; Eisthen, Heather L.

    2007-01-01

    The vertebrate brain actively regulates incoming sensory information, effectively filtering input and focusing attention toward environmental stimuli that are most relevant to the animal's behavioral context or physiological state. Such centrifugal modulation has been shown to play an important role in processing in the retina and cochlea, but has received relatively little attention in olfaction. The terminal nerve, a cranial nerve that extends underneath the lamina propria surrounding the olfactory epithelium, displays anatomical and neurochemical characteristics that suggest that it modulates activity in the olfactory epithelium. Using immunocytochemical techniques, we demonstrate that neuropeptide Y (NPY) is abundantly present in the terminal nerve in the axolotl (Ambystoma mexicanum), an aquatic salamander. Because NPY plays an important role in regulating appetite and hunger in many vertebrates, we investigated the possibility that NPY modulates activity in the olfactory epithelium in relation to the animal's hunger level. We therefore characterized the full length NPY gene from axolotls to enable synthesis of authentic axolotl NPY for use in electrophysiological experiments. We find that axolotl NPY modulates olfactory epithelial responses evoked by L-glutamic acid, a food-related odorant, but only in hungry animals. Similarly, whole-cell patch-clamp recordings demonstrate that bath application of axolotl NPY enhances the magnitude of a tetrodotoxin-sensitive inward current, but only in hungry animals. These results suggest that expression or activity of NPY receptors in the olfactory epithelium may change with hunger level, and that terminal nerve-derived peptides modulate activity in the olfactory epithelium in response to an animal's changing behavioral and physiological circumstances. PMID:16855098

  18. Terminal nerve-derived neuropeptide y modulates physiological responses in the olfactory epithelium of hungry axolotls (Ambystoma mexicanum).

    Science.gov (United States)

    Mousley, Angela; Polese, Gianluca; Marks, Nikki J; Eisthen, Heather L

    2006-07-19

    The vertebrate brain actively regulates incoming sensory information, effectively filtering input and focusing attention toward environmental stimuli that are most relevant to the animal's behavioral context or physiological state. Such centrifugal modulation has been shown to play an important role in processing in the retina and cochlea, but has received relatively little attention in olfaction. The terminal nerve, a cranial nerve that extends underneath the lamina propria surrounding the olfactory epithelium, displays anatomical and neurochemical characteristics that suggest that it modulates activity in the olfactory epithelium. Using immunocytochemical techniques, we demonstrate that neuropeptide Y (NPY) is abundantly present in the terminal nerve in the axolotl (Ambystoma mexicanum), an aquatic salamander. Because NPY plays an important role in regulating appetite and hunger in many vertebrates, we investigated the possibility that NPY modulates activity in the olfactory epithelium in relation to the animal's hunger level. We therefore characterized the full-length NPY gene from axolotls to enable synthesis of authentic axolotl NPY for use in electrophysiological experiments. We find that axolotl NPY modulates olfactory epithelial responses evoked by l-glutamic acid, a food-related odorant, but only in hungry animals. Similarly, whole-cell patch-clamp recordings demonstrate that bath application of axolotl NPY enhances the magnitude of a tetrodotoxin-sensitive inward current, but only in hungry animals. These results suggest that expression or activity of NPY receptors in the olfactory epithelium may change with hunger level, and that terminal nerve-derived peptides modulate activity in the olfactory epithelium in response to an animal's changing behavioral and physiological circumstances.

  19. Model Development to Establish Integrated Operational Rule Curves for Hungry Horse and Libby Reservoirs - Montana, 1996 Final Report.

    Energy Technology Data Exchange (ETDEWEB)

    Marotz, Brian; Althen, Craig; Gustafson, Daniel

    1996-01-01

    Hungry Horse and Libby dams have profoundly affected the aquatic ecosystems in two major tributaries of the Columbia River by altering habitat and water quality, and by imposing barriers to fish migration. In 1980, the U.S. Congress passed the Pacific Northwest Electric Power Planning and Conservation Act, designed in part to balance hydropower development with other natural resources in the Columbia System. The Act formed the Northwest Power Planning Council (Council) who developed a program to protect, mitigate and enhance fish and wildlife on the Columbia River and its tributaries. Pursuant to the Council`s Fish and Wildlife Program for the Columbia River System (1987), we constructed computer models to simulate the trophic dynamics of the reservoir biota as related to dam operation. Results were used to develop strategies to minimize impacts and enhance the reservoir and riverine fisheries, following program measures 903(a)(1-4) and 903(b)(1-5). Two FORTRAN simulation models were developed for Hungry Horse and Libby reservoirs located in northwestern Montana. The models were designed to generate accurate, short-term predictions specific to two reservoirs and are not directly applicable to other waters. The modeling strategy, however, is portable to other reservoir systems where sufficient data are available. Reservoir operation guidelines were developed to balance fisheries concerns in the headwaters with anadromous species recovery actions in the lower Columbia (Biological Rule Curves). These BRCs were then integrated with power production and flood control to reduce the economic impact of basin-wide fisheries recovery actions. These Integrated Rule Curves (IRCs) were developed simultaneously in the Columbia Basin System Operation Review (SOR), the Council`s phase IV amendment process and recovery actions associated with endangered Columbia Basin fish species.

  20. Bone Biopsy

    Science.gov (United States)

    ... News Physician Resources Professions Site Index A-Z Bone Biopsy Bone biopsy uses a needle and imaging ... the limitations of Bone Biopsy? What is a Bone Biopsy? A bone biopsy is an image-guided ...

  1. Bone mineral density assessed by phalangeal radiographic absorptiometry before and during long-term growth hormone treatment in girls with Turner's syndrome participating in a randomized dose-response study

    OpenAIRE

    Sas, Theo; Muinck Keizer-Schrama, Sabine; Stijnen, Theo; Teunenbroek, Arne; Leeuwen, Wibeke; Asarfi, A.; Rijn, Rick; Drop, Stenvert

    2001-01-01

    textabstractTo assess bone mineral density (BMD) in girls with Turner's syndrome before and during long-term treatment with GH, longitudinal measurements using phalangeal radiographic absorptiometry were performed in 68 girls with Turner's syndrome. These previously untreated girls, age 2-11 y, participating in a randomized, dose-response trial, were randomly assigned to one of three GH dosage groups: group A, 4 IU/m(2)/d ( approximately 0.045 mg/kg/d); group B, first year 4 IU/m(2)/d, therea...

  2. Proposal of early retreatment with iloprost in partially responsive patients with bone marrow edema syndrome: a case report

    Directory of Open Access Journals (Sweden)

    Simone Meini

    2012-12-01

    Full Text Available Background Avascular Necrosis (AVN is defined as the cellular death of bone components due to an alteration of the blood supply, resulting in Edema of the Bone Marrow (BME, structural collapse and bone destruction. In advanced stages, AVN requires surgery. One emerging medical treatment for supporting osseous perfusion is the administration of iloprost.Materials and methods A 38-year-old woman presented with severe BME of the left hip (primary, persisting for 6 weeks. She was treated with iloprost iv at 2 ng/kg/min for 6 hours/day for 5 days, and after 4 weeks, the treatment was repeated at 1.5 ng/kg/min for 6 hours for 5 days because she exhibited only a partial response to the first treatment. Complete remission was obtained, documented clinically and on Magnetic Resonance Imaging (MRI. Her Harris Hip Score (HHS increased from 29.90 to 97. No significant adverse events related to iloprost were registered. No surgical procedures were necessary.Conclusions In most cases, iloprost is administered in a single cycle of treatment over 5 days at 1-2 ng/kg/min for 6 hours/day, but no research has investigated the effectiveness of early retreatment after the first cycle results in only a partially response. Only a few studies examining small numbers of patients have evaluated iloprost in AVN/BME, preferring, in most cases, the dose of 1 ng/kg/min and obtaining clinical improvement both in BME and in AVN in times comparable to surgical core decompression. This case report demonstrates the safety and effectiveness of early repetition of the maximal dose of iloprost before BME evolves into AVN, as well as in cases initially appearing serious and requiring surgical procedures.

  3. Bone Densitometry (Bone Density Scan)

    Science.gov (United States)

    ... News Physician Resources Professions Site Index A-Z Bone Densitometry (DEXA) Bone densitometry, also called dual-energy ... limitations of DEXA Bone Densitometry? What is a Bone Density Scan (DEXA)? Bone density scanning, also called ...

  4. Single nucleotide polymorphism of bone morphogenetic protein 4 gene: A risk factor of non-syndromic cleft lip with or without palate

    Directory of Open Access Journals (Sweden)

    Sathyaprasad Savitha

    2015-01-01

    Full Text Available Background: The bone morphogenetic protein (BMP signalling pathway is crucial in a number of developmental processes and is critical in the formation of variety of craniofacial elements including cranial neural crest, facial primordium, tooth, lip and palate. It is an important mediator in regulation of lip and palate fusion, cartilage and bone formation. Aim: To study the role of mutation of BMP4 genes in the aetiology of non-syndromic cleft lip with or without palate (NSCL ± P and identify it directly from human analyses. Materials and Methods: A case-control study was done to evaluate whether BMP4T538C polymorphism, resulting in an amino acid change of Val=Ala (V152A in the polypeptide, is associated with NSCL ± P in an Indian paediatric population. Genotypes of 100 patients with NSCL ± P and 100 controls (in whom absence of CL ± P was confirmed in three generations were detected using a polymerase chain reaction-restriction fragment length polymorphism strategy. Logistic regression was performed to evaluate allele and genotype association with NSCLP. Results: Results showed significant association between homozygous CC genotype with CL ± P (odds ratio [OR]-5.59 and 95% confidence interval [CI] = 2.85-10.99. The 538C allele carriers showed an increased risk of NSCL ± P as compared with 538 T allele (OR - 4.2% CI = 2.75-6.41. Conclusion: This study suggests an association between SNP of BMP4 gene among carriers of the C allele and increased risk for NSCLP in an Indian Population. Further studies on this aspect can scale large heights in preventive strategies for NSCLP that may soon become a reality.

  5. McCune-Albright syndrome

    Science.gov (United States)

    ... this page: //medlineplus.gov/ency/article/001217.htm McCune-Albright syndrome To use the sharing features on this page, please enable JavaScript. McCune-Albright syndrome is a genetic disease that affects the bones ...

  6. Compromised trabecular microarchitecture and lower finite element estimates of radius and tibia bone strength in adults with turner syndrome: a cross-sectional study using high-resolution-pQCT.

    Science.gov (United States)

    Hansen, Stinus; Brixen, Kim; Gravholt, Claus H

    2012-08-01

    Although bone mass appear ample for bone size in Turner syndrome (TS), epidemiological studies have reported an increased risk of fracture in TS. We used high-resolution peripheral quantitative computed tomography (HR-pQCT) to measure standard morphological parameters of bone geometry and microarchitecture, as well as estimated bone strength by finite element analysis (FEA) to assess bone characteristics beyond bone mineral density (BMD) that possibly contribute to the increased risk of fracture. Thirty-two TS patients (median age 35, range 20-61 years) and 32 healthy control subjects (median age 36, range 19-58 years) matched with the TS participants with respect to age and body-mass index were studied. A full region of interest (ROI) image analysis and a height-matched ROI analysis adjusting for differences in body height between groups were performed. Mean bone cross-sectional area was lower in TS patients in radius (-15%) and tibia (-13%) (both p radius (18%, p radius, -36% in tibia, both p radius, -22% in tibia, both p radius, -12% in tibia, both p radius, 23% in tibia, both p radius, and trabecular number in tibia. FEA estimated failure load was lower in TS patients in both radius (-11%) and tibia (-16%) (both p < 0.01) and remained significantly lower in the height-matched ROI analysis. Conclusively, TS patients had compromised trabecular microarchitecture and lower bone strength at both skeletal sites, which may partly account for the increased risk of fracture observed in these patients.

  7. Extracorporeal shock wave therapy in the treatment of primary bone marrow edema syndrome of the knee: a prospective randomised controlled study.

    Science.gov (United States)

    Gao, Fuqiang; Sun, Wei; Li, Zirong; Guo, Wanshou; Wang, Weiguo; Cheng, Liming; Yue, Debo; Zhang, Nianfei; Savarin, Amanda

    2015-12-05

    The aim of this prospective study was to evaluate the effectiveness of extracorporeal shock wave therapy (ESWT) in normalizing the symptoms and imaging features of primary bone marrow edema syndrome (BMES) of the knee. This study compared the outcomes of ESWT (Group A) (n = 20) and intravenously applied prostacyclin and bisphosphonate (Group B) (n = 20) in the treatment of BMES of the knee in our department between 2011 and 2013. The Visual Analog Scale for pain (VAS, 100 mm), the Western Ontario and McMaster University Osteoarthritis Index (WOMAC), the SF-36 scores and MRI scans as well as plain radiographs were obtained before and after therapy between two groups. Compared with Group B, we found greater improvement in VAS, the WOMAC Osteoarthritis Index and SF-36 score at 1, 3 and 6 months post-treatment in Group A (P edema at 6 months in Group A (95 vs. 65 %; P = 0.018). The MRI at 1 year follow-up showed complete regression in all patients in Group A. However, two cases in Group B continued to normalize over the subsequent follow-up period. ESWT can produce rapid pain relief and functional improvement. It may be an effective, reliable, and non-invasive technique for rapid treatment of BMES of the knee. Research Registry UIN 528, September 03, 2015.

  8. Monitoring of hematopoietic chimerism after transplantation for pediatric myelodysplastic syndrome: real-time or conventional short tandem repeat PCR in peripheral blood or bone marrow?

    Science.gov (United States)

    Willasch, Andre M; Kreyenberg, Hermann; Shayegi, Nona; Rettinger, Eva; Meyer, Vida; Zabel, Marion; Lang, Peter; Kremens, Bernhard; Meisel, Roland; Strahm, Brigitte; Rossig, Claudia; Gruhn, Bernd; Klingebiel, Thomas; Niemeyer, Charlotte M; Bader, Peter

    2014-12-01

    Quantitative real-time PCR (qPCR) has been proposed as a highly sensitive method for monitoring hematopoietic chimerism and may serve as a surrogate marker for the detection of minimal residual disease minimal residual disease in myelodysplastic syndrome (MDS), until specific methods of detection become available. Because a systematic comparison of the clinical utility of qPCR with the gold standard short tandem repeat (STR)-PCR has not been reported, we retrospectively measured chimerism by qPCR in 54 children transplanted for MDS in a previous study. Results obtained by STR-PCR in the initial study served as comparison. Because the detection limit of qPCR was sufficiently low to detect an autologous background, we defined the sample as mixed chimera if the proportion of recipient-derived cells exceeded .5%. The true positive rates were 100% versus 80% (qPCR versus STR-PCR, not significant), and mixed chimerism in most cases was detected earlier by qPCR than by STR-PCR (median, 31 days) when chimerism was quantified concurrently in peripheral blood and bone marrow. Both methods revealed a substantial rate of false positives (22.7% versus 13.6%, not significant), indicating the importance of serial testing of chimerism to monitor its progression. Finally, we propose criteria for monitoring chimerism in pediatric MDS with regard to the subtypes, specimens, PCR method, and timing of sampling.

  9. A regression method including chronological and bone age for predicting final height in Turner's syndrome, with a comparison of existing methods.

    Science.gov (United States)

    van Teunenbroek, A; Stijnen, T; Otten, B; de Muinck Keizer-Schrama, S; Naeraa, R W; Rongen-Westerlaken, C; Drop, S

    1996-04-01

    A total of 235 measurement points of 57 Dutch women with Turner's syndrome (TS), including women with spontaneous menarche and oestrogen treatment, served to develop a new Turner-specific final height (FH) prediction method (PTS). Analogous to the Tanner and Whitehouse mark 2 method (TW) for normal children, smoothed regression coefficients are tabulated for PTS for height (H), chronological age (CA) and bone age (BA), both TW RUS and Greulich and Pyle (GP). Comparison between all methods on 40 measurement points of 21 Danish TS women showed small mean prediction errors (predicted minus observed FH) and corresponding standard deviation (ESD) of both PTSRUS and PTSGP, in particular at the "younger" ages. Comparison between existing methods on the Dutch data indicated a tendency to overpredict FH. Before the CA of 9 years the mean prediction errors of the Bayley and Pinneau and TW methods were markedly higher compared with the other methods. Overall, the simplest methods--projected height (PAH) and its modification (mPAH)--were remarkably good at most ages. Although the validity of PTSRUS and PTSGP remains to be tested below the age of 6 years, both gave small mean prediction errors and a high accuracy. FH prediction in TS is important in the consideration of growth-promoting therapy or in the evaluation of its effects.

  10. Reduced-intensity bone marrow transplantation from an alternative unrelated donor for myelodysplastic syndrome of first-donor origin.

    Science.gov (United States)

    Komeno, Yukiko; Kanda, Yoshinobu; Kandabashi, Koji; Kawazu, Masahito; Goyama, Susumu; Takeshita, Masataka; Nannya, Yasuhito; Niino, Miyuki; Nakamoto, Tetsuya; Kurokawa, Mineo; Tsujino, Shiho; Ogawa, Seishi; Aoki, Katsunori; Chiba, Shigeru; Motokura, Toru; Hirai, Hisamaru

    2003-03-01

    A male patient had a relapse of myelodysplastic syndrome (MDS) 2 years after BMT from a female matched unrelated donor. Conventional cytogenetics, FISH, and short-tandem repeat chimerism analysis proved a relapse of donor origin. He underwent reduced-intensity BMT after a conditioning with fludarabine and busulfan, since he had impaired renal, liver, and pulmonary functions. Chimerism analysis on day 28 after the second BMT showed mixed chimerism of the first and the second donors, which later turned to full second-donor chimerism on day 60. He developed grade II acute GVHD of the skin and cytomegalovirus reactivation, but both were improved with methylprednisolone and ganciclovir, respectively. He remains in complete remission 6 months after the second BMT. Reduced-intensity second BMT from an alternative donor appeared to be a tolerable treatment option for donor-derived leukemia/MDS after the first conventional transplantation.

  11. Quantification of Hungry Horse Reservoir Water Levels Needed to Maintain or Enhance Reservoir Fisheries, 1984 Final Report.

    Energy Technology Data Exchange (ETDEWEB)

    May, Bruce

    1984-10-01

    This report reviews activities of the Hungry Horse Reservoir fisheries study from May 16-October 14, 1983. The first six months of the project were concerned with testing of equipment and developing methodologies for sampling physical-chemical limnology, fish food availability, fish food habits, seasonal distribution and abundance of fish, migration patterns of westslope cutthroat trout and habitat quality in tributary streams. Suitable methods have been developed for most aspects of the study, but problems remain with determining the vertical distribution of fish. Catch rates of fish in vertical nets were insufficient to determine depth distribution during the fall. If catches remain low during the spring and summer of 1984, experimental netting will be conducted using gang sets of standard gill nets. Purse seining techniques also need to be refined in the spring of 1984, Sample design should be completed in 1984. A major activity for the report period was preparation of a prospectus which reviewed: (1) environmental factors limiting gamefish production; (2) flexibility in reservoir operation; (3) effects of reservoir operation on fish populations and (4) model development. Production of westslope cutthroat trout may be limited by spawning and rearing habitat in tributary streams, reservoir habitat suitability, predation during the first year of reservoir residence and fish food availability. Reservoir operation affects fish production by altering fish habitat and food production through changes in reservoir morphometrics such as surface area, volume, littoral area and shoreline length. The instability in the fish habitat caused by reservoir operation may produce an environment which is suitable for fish which can utilize several habitat types and feed upon a wide variety of food organisms. Analysis of factors governing reservoir operation indicated that some flexibility exists in Hungry Horse operation. Changes in operation to benefit gamefish populations would

  12. Hipodoncia y hueso navicular accesorio: una interesante asociación sindrómica Hypodontia and accessory navicular bone: an interesting syndromic association

    Directory of Open Access Journals (Sweden)

    Mario Cantín

    2012-09-01

    the teeth 1.7, 2.7, 2.8, 3.8 and 4.8; and the presence of an accessory navicular bone in the left foot. It is interesting to suggest that this rare association, with clear dominant autosomal inheritance, might exist; since the dental agenesis and the presence of accessory navicular bone have similar prevalence, which could point to a new syndromic association probably related to the lack of PAX9.

  13. Skeletal maturation in individuals with Down's syndrome: Comparison between PGS curve, cervical vertebrae and bones of the hand and wrist

    Directory of Open Access Journals (Sweden)

    Glauber Carinhena

    2014-08-01

    Full Text Available INTRODUCTION: This study was conducted with the aim of adapting the methods developed by Martins and Sakima to assess skeletal maturation by cervical vertebrae in the pubertal growth spurt (PGS curve. It also aimed to test the reliability and agreement between those methods and the method of hand and wrist radiograph when compared two by two and all together. METHODS: The sample comprised 72 radiographs, with 36 lateral radiographs of the head and 36 hand-wrist radiographs of 36 subjects with Down's syndrome (DS, 13 female and 23 male, aged between 8 years and 6 months and 18 years and 7 months, with an average age of 13 years and 10 months. RESULTS AND CONCLUSIONS: Results revealed that adapting the methods developed by Martins and Sakima to assess skeletal maturation by cervical vertebrae in the curve of PGS is practical and useful in determining the stage of growth and development of individuals. The stages of maturation evaluated by cervical vertebrae and ossification centers observed in radiographs of the hand and wrist were considered reliable, with excellent level of agreement between the methods by Hassel and Farman as well as Baccetti, Franchi and McNamara Jr and Martins and Sakima. Additionally, results revealed an agreement that ranged between reasonable to good for the three methods used to assess the skeletal maturation, showing statistical significance.

  14. Bone within a bone

    Energy Technology Data Exchange (ETDEWEB)

    Williams, H.J.; Davies, A.M. E-mail: wendy.turner@roh.nhs.uk; Chapman, S

    2004-02-01

    The 'bone within a bone' appearance is a well-recognized radiological term with a variety of causes. It is important to recognize this appearance and also to be aware of the differential diagnosis. A number of common conditions infrequently cause this appearance. Other causes are rare and some remain primarily of historical interest, as they are no longer encountered in clinical practice. In this review we illustrate some of the conditions that can give the bone within a bone appearance and discuss the physiological and pathological aetiology of each where known.

  15. Flathead Lake Angler Survey; Monitoring Activities for the Hungry Horse Fisheries Mitigation Plan, 1992-1993 Final Report.

    Energy Technology Data Exchange (ETDEWEB)

    Evarts, Les; Hansen, Barry; DosSantos, Joe (Confederated Salish and Kootenai Tribes of the Flathead Nation, Pablo, MT)

    1994-02-01

    A roving creel survey was conducted on Flathead Lake in northwestern Montana from May 17, 1992 to May 19, 1993. The primary objective of the survey was to quantify the baseline fishery and exploitation rates existing prior to Hungry Horse Dam mitigation efforts. Anglers were counted on 308 occasions, comprising 5,618 fishing boats, 515 shore anglers, and 2,191 ice anglers. The party interviews represented 4,410 anglers, made up of 2,613 boat anglers, 787 shore anglers, and 1,010 ice anglers. A total of 47,883 angler days (190,108 angler hours) of pressure and a harvest of 42,979 fish (including lake trout, lake whitefish, yellow perch, bull trout, and westslope cutthroat trout) were estimated. Pressure was distributed between shore, boat, and ice anglers as 4%, 87%, and 9%, respectively. Seventynine percent of the total effort was directed at lake trout during the study period. Limited comparisons were made to previous creel surveys on Flathead Lake due to differences in methods and radical changes in the fishery. Potential sources of bias are explained in detail. Future creel surveys must employ methods consistent with this survey to obtain estimates that are statistically distinguishable.

  16. Gonadal dysgenesis and bone metabolism.

    Science.gov (United States)

    Breuil, V; Euller-Ziegler, L

    2001-02-01

    Gonadal dysgenesis is defined as congenital hypogonadism related to abnormalities of the sex chromosomes. Because sex steroids play a central role in the acquisition and maintenance of bone mass, studies have been done to investigate bone status in patients with gonadal dysgenesis, particularly Turner's syndrome and Klinefelter's syndrome, which are the two most common types. The severe estrogen deficiency characteristic of Turner's syndrome (44, X0) is associated with a significant bone mass decrease ascribable to increased bone turnover, as shown by histological studies and assays of bone turnover markers. Estrogen therapy is followed by a significant bone mass gain and a return to normal of bone turnover markers, suggesting that it is the estrogen deficiency rather than the chromosomal abnormality that causes the bone mass deficiency, although abnormalities in the renal metabolism of vitamin D have been reported. Combined therapy with estrogens and growth hormone seems beneficial during the prepubertal period. In Klinefelter's syndrome (47XXY), serum testosterone levels are at the lower end of the normal range and dihydrotestosterone levels are low. Histological studies show depressed osteoblast function and a decrease in 5-alpha-reductase activity responsible for partial tissue resistance to androgens. Assays of bone turnover markers show evidence of increased bone turnover. The bone deficiency is most marked at the femoral neck and seems correlated with serum testosterone and estradiol levels. Androgen therapy has favorable effects on the bone only if it is started before puberty. Recent data suggest that estrogens may contribute to the development of demineralization in KS and that bisphosphonate therapy may be beneficial.

  17. Reversible posterior leucoencephalopathy syndrome associated with bone marrow transplantation Leucoencefalopatia posterior reversível associada a transplante de medula óssea

    Directory of Open Access Journals (Sweden)

    Hélio A.G. Teive

    2001-09-01

    Full Text Available Reversible posterior leucoencephalopathy syndrome (RPLS has previously been described in patients who have renal insufficiency, eclampsia, hypertensive encephalopathy and patients receiving immunosuppressive therapy. The mechanism by which immunosuppressive agents can cause this syndrome is not clear, but it is probably related with cytotoxic effects of these agents on the vascular endothelium. We report eight patients who received cyclosporine A (CSA after allogeneic bone marrow transplantation or as treatment for severe aplastic anemia (SSA who developed posterior leucoencephalopathy. The most common signs and symptoms were seizures and headache. Neurological dysfunction occurred preceded by or concomitant with high blood pressure and some degree of acute renal failure in six patients. Computerized tomography studies showed low-density white matter lesions involving the posterior areas of cerebral hemispheres. Symptoms and neuroimaging abnormalities were reversible and improvement occurred in all patients when given lower doses of CSA or when the drug was withdrawn. RPLS may be considered an expression of CSA neurotoxicity.A síndrome de leucoencefalopatia posterior reversível (SLPR tem sido descrita em pacientes com insuficiência renal, eclâmpsia, encefalopatia hipertensiva e em pacientes que recebem terapia imunossupressora. O mecanismo pelo qual os agentes imunossupressores podem causar a síndrome ainda não são conhecidos, porém estão provavelmente relacionados aos efeitos citotóxicos destes agentes no endotélio vascular. Relatamos oito pacientes que receberam ciclosporina A (CSA após transplante de medula óssea alogênico ou para tratamento de anemia aplástica severa e que desenvolveram a SLPR. Os sinais e sintomas mais comuns foram convulsões e cefaléia. A disfunção neurológica ocorreu simultaneamente ou precedida por elevação da pressão arterial sistêmica e disfunção renal aguda em seis pacientes. O exame de

  18. Expression of CDKN1C in the bone marrow of patients with myelodysplastic syndrome and secondary acute myeloid leukemia is associated with poor survival after conventional chemotherapy.

    Science.gov (United States)

    Radujkovic, Aleksandar; Dietrich, Sascha; Andrulis, Mindaugas; Benner, Axel; Longerich, Thomas; Pellagatti, Andrea; Nanda, Kriti; Giese, Thomas; Germing, Ulrich; Baldus, Stefan; Boultwood, Jacqueline; Ho, Anthony D; Dreger, Peter; Luft, Thomas

    2016-09-15

    We tested the hypothesis that proliferative activity of hematopoietic stem cells has impact on survival in newly diagnosed patients with myelodysplastic syndrome (MDS) and secondary acute myeloid leukemia (AML). RNA expression profiles of CD34(+) cells were analyzed in 125 MDS patients and compared to healthy controls. Prognostic impact on overall survival (OS) of mRNA proliferation signatures established for solid tumor cells was analyzed retrospectively. For validation on the protein level, immunofluorescence and immunohistochemistry analyses in bone marrow (BM) biopsies were performed, and an independent cohort of 223 MDS and secondary AML patients was investigated. Lower proliferative activity correlated with the expression of cyclin-dependent kinase inhibitor 1C (CDKN1C) and with shorter OS (p < 0.001). In multivariable analysis, higher CDKN1C expression was associated with worse OS (p = 0.02). On the BM level, a total of 84 (38%) patients showed CDKN1C protein expression before start of treatment. Patient, disease and treatment characteristics did not differ between CDKN1C-positive and -negative patients. Positive CDKN1C BM status was associated with shorter OS in multivariable analysis (HR 1.54, p = 0.04). There was an interaction between CDKN1C BM status and subsequent treatment with negative impact on OS being most pronounced in patients receiving conventional cytotoxic chemotherapy (n = 83, 2-year OS 30% versus 58%, p = 0.002). In conclusion, low-proliferative phenotype and CDKN1C expression were associated with shorter OS. CDKN1C protein expression in the BM of newly diagnosed, treatment-naïve MDS and secondary AML patients was identified as a prognostic factor for poor survival in patients treated with antiproliferative chemotherapy.

  19. Study for Reliability of Interpretation of the Three Phase Bone Scintigraphy in Patients with Post-traumatic Complex Regional Pain Syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Park, Jung Mi [Bucheon Hospital Soonchunhyang University College of Medicine, Bucheon (Korea, Republic of); Kim, Seon Jung [National Health Insurance Corporation Ilsan Hospital, Koyang (Korea, Republic of); Chung, Seung Hyun [National Cancer Center, Koyang (Korea, Republic of); Lee, Yong Taek [Kangbuk Samsung Hospital, Sungkyunkwan University School of Medicine, Seoul (Korea, Republic of)

    2008-02-15

    We performed this study to evaluate reliability on interpretation of three phase bone scintigraphy (TPBS) in patients with post-traumatic complex regional pain syndrome (PT-CRPS). Based on International Association for the Study of Pain guideline in 1994, 34 patients with PT-CRPS were selected for this study. Two nuclear medicine physicians evaluated identical TPBS according to the uptake pattern, extent and intensity of the lesion, and their agreements (kappa values) were analysed. The final diagnosis based on arbitrary criteria of each physician were compared with those obtained by the criteria for PT-CRPS established in this study, which are hyperactivity on all phases (criteria 1), hyperactivity of whole joints on delayed phase (criteria 2), and hyperactivity of either whole or focal joints on delayed phase (criteria 3). Intra-observer agreements were good for uptake pattern, intensity, and extent on TPBS. Inter-observer agreements were also good, except extent on blood pool phase (0.55). The inter-observer agreements on final diagnosis improved when criteria 1-3 were applied (0.77-0.88), compared to when physician's own criteria were used (0.63). Those also improved from 0.29 to 0.47-0.82 for acute stage, and from 0.37 to 1.0 for chronic stage. The sensitivities of chronic stage were relatively lower to those of acute stage. Inter-observer's variations in diagnosis of the patients with PT-CRPS using TPBS were observed. These results were attributed to different criteria set by observers. In order to improve agreement on interpretation of TPBS, common positive criteria should be established, especially considering uptake pattern and clinical stages.

  20. Effects of Tai Chi and Walking Exercises on Weight Loss, Metabolic Syndrome Parameters, and Bone Mineral Density: A Cluster Randomized Controlled Trial

    Directory of Open Access Journals (Sweden)

    Stanley Sai-Chuen Hui

    2015-01-01

    Full Text Available Tai Chi and walking are both moderate-intensity physical activity (PA that can be easily practiced in daily life. The objective of the study was to determine the effects of these two PAs on weight loss, metabolic syndrome parameters, and bone mineral density (BMD in Chinese adults. We randomized 374 middle-aged subjects (45.8 ± 5.3 years into 12-week training (45 minutes per day, 5 days per week of Tai Chi (n=124 or self-paced walking (n=121 or control group (n=129. On average, Tai Chi and walking groups lost 0.50 and 0.76 kg of body weight and 0.47 and 0.59 kg of fat mass after intervention, respectively. The between-group difference of waist circumference (WC and fasting blood glucose (FBG was −3.7 cm and −0.18 mmol/L for Tai Chi versus control and −4.1 cm and −0.22 mmol/L for walking versus control. No significant differences were observed regarding lean mass, blood pressure, triglycerides, total cholesterol, high-density and low-density lipoprotein cholesterol, and BMD compared to control. Change in lean mass, not fat mass or total weight loss, was significantly correlated to the change in BMD. Our results suggest that both of these two PAs can produce moderate weight loss and significantly improve the WC and FBG in Hong Kong Chinese adults, with no additional effects on BMD.

  1. Bayesian meta-analysis of test accuracy in the absence of a perfect reference test applied to bone scintigraphy for the diagnosis of complex regional pain syndrome.

    Science.gov (United States)

    Held, Ulrike; Brunner, Florian; Steurer, Johann; Wertli, Maria M

    2015-11-01

    There is conflicting evidence about the accuracy of bone scintigraphy (BS) for the diagnosis of complex regional pain syndrome 1 (CRPS 1). In a meta-analysis of diagnostic studies, the evaluation of test accuracy is impeded by the use of different imperfect reference tests. The aim of our study is to summarize sensitivity and specificity of BS for CRPS 1 and to identify factors to explain heterogeneity. We use a hierarchical Bayesian approach to model test accuracy and threshold, and we present different models accounting for the imperfect nature of the reference tests, and assuming conditional dependence between BS and the reference test results. Further, we include disease duration as explanatory variable in the model. The models are compared using summary ROC curves and the deviance information criterion (DIC). Our results show that those models which account for different imperfect reference tests with conditional dependence and inclusion of the covariate are the ones with the smallest DIC. The sensitivity of BS was 0.87 (95% credible interval 0.73-0.97) and the overall specificity was 0.87 (0.73-0.95) in the model with the smallest DIC, in which missing values of the covariate are imputed within the Bayesian framework. The estimated effect of duration of symptoms on the threshold parameter was 0.17 (-0.25 to 0.57). We demonstrate that the Bayesian models presented in this paper are useful to address typical problems occurring in meta-analysis of diagnostic studies, including conditional dependence between index test and reference test, as well as missing values in the study-specific covariates.

  2. Reduced Euchromatin histone methyltransferase 1 causes developmental delay, hypotonia, and cranial abnormalities associated with increased bone gene expression in Kleefstra syndrome mice

    NARCIS (Netherlands)

    Balemans, M.C.M.; Ansar, M.; Oudakker, A.R.; Caam, A.P.M. van; Bakker, B.; Vitters, E.L.; Kraan, P.M. van der; Bruijn, D.R.H. de; Janssen, S.M.; Kuipers, A.J.; Huibers, M.M.; Maliepaard, Eliza M.; Walboomers, X.F.; Benevento, M.; Nadif Kasri, N.; Kleefstra, T.; Zhou, H.; Zee, C.E.E.M. van der; Bokhoven, H. van

    2014-01-01

    Haploinsufficiency of Euchromatin histone methyltransferase 1 (EHMT1), a chromatin modifying enzyme, is the cause of Kleefstra syndrome (KS). KS is an intellectual disability (ID) syndrome, with general developmental delay, hypotonia, and craniofacial dysmorphisms as additional core features. Recent

  3. GUT FERMENTATION SYNDROME

    African Journals Online (AJOL)

    boaz

    AFRICAN JOURNAL OF CLINICAL AND EXPERIMENTAL MICROBIOLOGY. JANUARY 2014 ISBN ... documented case of Gut Fermentation Syndrome verified with glucose and .... cerevisiae in Bone Marrow Transplant. Patients,” Journal of ...

  4. [SAPHO syndrome].

    Science.gov (United States)

    Heldmann, F; Kiltz, U; Baraliakos, X; Braun, J

    2014-10-01

    The SAPHO syndrome, an acronym for synovitis, acne, pustulosis, hyperostosis and osteitis, is a rare disease which affects bones, joints and the skin. The main osteoarticular features are hyperostosis and osteitis. Osteoarticular symptoms predominantly occur on the anterior chest wall but the spine and the peripheral skeleton can also be involved. The most important skin affections are palmoplantar pustulosis and severe acne. The etiology of this syndrome remains unclear but infectious, immunological and genetic factors are involved. The diagnostic features of SAPHO syndrome are clinical and radiological. The most important diagnostic procedure is Tc-99 m bone scintigraphy but conventional x-rays as well as computed tomography (CT) and magnetic resonance imaging (MRI) can also contribute to the final diagnosis. Bone histology and positron emission tomography CT (PET-CT) may help to differentiate SAPHO syndrome from malignancies and infectious osteomyelitis. Nonsteroidal anti-inflammatory drugs (NSAIDs) are the cornerstone of treatment. The results obtained using antibiotics and disease-modifying antirheumatic drugs (DMARDs), such as sulfasalazine and methotrexate are inconsistent. Bisphosphonates and anti-tumor necrosis factor (anti-TNF) drugs have shown promising results in small studies but further research is still necessary.

  5. 99mTc-MDP骨显像与X线、CT联合诊断SAPHO综合征%Combined diagnosis of SAPHO syndrome by 99mTC-MDP bone imaging, X-ray and CT

    Institute of Scientific and Technical Information of China (English)

    杨中; 徐海青; 吴边; 宋烈晶; 李萌

    2014-01-01

    Objective To compare the image characteristic of SAPHO syndrome by X-ray and CT findings as well as 99mTC-MDP bone imaging for accurate diagnosis of this entity. Methods The imaging prop⁃erty was examined on X-ray, CT and 99mTC-MDP bone imaging in 22 cases and compared with the advantag⁃es and disadvantages. Results SAPHO syndrome presented distinctive features by different imaging technique, and the nature appeared prominent on X-ray and CT images, yet was more sensitive to 99mTC-MDP. Conclu⁃sion Patients with suspected SAPHO syndrome may receive early examination by X-ray or CT, and addition⁃al nuclide bone imaging, as appropriate, may improve the diagnostic accuracy.%目的:比较分析SAPHO综合征X线、CT和核素骨显像影像特征,提高本病正确诊断率。方法通过对该病22例的X线、CT和核素骨显像图像分析,总结各自的影像学特性,并对比各自的优缺点。结果 SAPHO综合征在各种成像上都有特征性的表现,但X线、CT特征性更突出,而核素骨显像敏感性更高。结论对可疑SAPHO综合征患者,应及早行X线或CT检查,必要时加做核素骨显像来提高诊断准确率。

  6. Bone scan

    Science.gov (United States)

    ... legs, or spine fractures) Diagnose a bone infection (osteomyelitis) Diagnose or determine the cause of bone pain, ... 2015:chap 43. Read More Broken bone Metabolism Osteomyelitis Review Date 12/10/2015 Updated by: Jatin ...

  7. Bone Cancer

    Science.gov (United States)

    Cancer that starts in a bone is uncommon. Cancer that has spread to the bone from another ... more common. There are three types of bone cancer: Osteosarcoma - occurs most often between ages 10 and ...

  8. Bone Diseases

    Science.gov (United States)

    Your bones help you move, give you shape and support your body. They are living tissues that rebuild constantly ... childhood and your teens, your body adds new bone faster than it removes old bone. After about ...

  9. Bone Markers

    Science.gov (United States)

    ... markers may be seen in conditions such as: Osteoporosis Paget disease Cancer that has spread to the bone (metastatic bone disease) Hyperparathyroidism Hyperthyroidism Osteomalacia in adults and rickets in children—lack of bone mineralization, ...

  10. Genetics Home Reference: Floating-Harbor syndrome

    Science.gov (United States)

    ... child may have bones more typical of a child of 2. However, bone age is usually normal by age 6 to 12. Delay in speech development (expressive language delay) may be severe in Floating-Harbor syndrome , ...

  11. [Clinically relevant possibilities and limits of differential diagnosis of megaloblastic anemia and myelodysplastic syndrome - refractory anemia type in bone marrow biopsies].

    Science.gov (United States)

    Vašeková, Petra; Szépe, Peter; Marcinek, Ján; Balhárek, Tomáš; Plank, Lukáš

    Megaloblastic anemia (MA) represents a subtype of macrocytic anemia caused by impaired DNA synthesis, mostly due to folate and vitamin B12 deficiency. Its mildest forms lead to macrocytosis without concomitant anemia, but more severe forms to thrombocytopenia and/or leucopenia as well. In majority of the cases, the diagnosis of MA dose not represent a serious clinical problem, however, other causes of macrocytosis including myelodysplastic syndrome (MDS) must be excluded. In the period 2004-2015 we identified in our registry 126 consecutive bone marrow (BM) biopsies of patients with cytopenia/s in peripheral blood and suspicion either on MA or MDS of refractory anemia (RA) type. We performed a retrospective analysis of BM biopsies focused on evaluation of parameters useful for the differential diagnosis, as represented by (a) cellularity and proportions of BM precursors, (b) and their topography, (c) presence of maturation defects and dysplastic changes, (d) grade and extent of myelofibrosis, (e) iron deposits and (f) presence of "inflammatory" response in BM. Histological analyses were supported by immunohistochemical examinations. The series consisted of biopsies of 126 patients (61 men and 65 women) with average age 63 (14-88 years) - almost all patients (121/126) presented with anemia. Based on the findings we distinguished three diagnostic groups - MA (31 patients), MDS-RA (39) and bioptically unclasifiable case ("DIF DG" - 56 patients). Abnormalities of the BM cellularity were observed in 81 % and of topography in 73 % of all cases respectively. Megalobastic differentiation of erythropoesis was detected in 79 % and diagnostic dysplastic changes in 25 % of all biopsy cases. In 29 % of all biopsies ring sideroblasts were present, megakaryocytic nuclear lobulisation defects density changes were found in 61 % of all patients. In 14 % of all biopsies the BM myelofibrosis was absent, in contrast 5 % of the biopsies showed severe diffuse fibrosis. "Inflammatory

  12. Inactivation of the Na-Cl co-transporter (NCC) gene is associated with high BMD through both renal and bone mechanisms: analysis of patients with Gitelman syndrome and Ncc null mice.

    Science.gov (United States)

    Nicolet-Barousse, Laurence; Blanchard, Anne; Roux, Christian; Pietri, Laurence; Bloch-Faure, May; Kolta, Sami; Chappard, Christine; Geoffroy, Valérie; Morieux, Caroline; Jeunemaitre, Xavier; Shull, Gary E; Meneton, Pierre; Paillard, Michel; Houillier, Pascal; De Vernejoul, Marie-Christine

    2005-05-01

    Chronic thiazide treatment is associated with high BMD. We report that patients and mice with null mutations in the thiazide-sensitive NaCl cotransporter (NCC) have higher renal tubular Ca reabsorption, higher BMD, and lower bone remodeling than controls, as well as abnormalities in Ca metabolism, mainly caused by Mg depletion. Chronic thiazide treatment decreases urinary Ca excretion (UVCa) and increases BMD. To understand the underlying mechanisms, Ca and bone metabolism were studied in two models of genetic inactivation of the thiazide-sensitive NaCl cotransporter (NCC): patients with Gitelman syndrome (GS) and Ncc knockout (Ncc(-/-)) mice. Ca metabolism was analyzed in GS patients and Ncc(-/-) mice under conditions of low dietary Ca. BMD was measured by DXA in patients and mice, and bone histomorphometry was analyzed in mice. GS patients had low plasma Mg. They exhibited reduced UVCa, but similar serum Ca and GFR as control subjects, suggesting increased renal Ca reabsorption. Blood PTH was lower despite lower serum ionized Ca, and Mg repletion almost corrected both relative hypoparathyroidism and low UVCa. BMD was significantly increased in GS patients at both lumbar (+7%) and femoral (+16%) sites, and osteocalcin was reduced. In Ncc(-/-) mice, serum Ca and GFR were unchanged, but UVCa was reduced and PTH was elevated; Mg repletion largely corrected both abnormalities. Trabecular and cortical BMD were higher than in Ncc(+/+) mice (+4% and +5%, respectively), and despite elevated PTH, were associated with higher cortical thickness and lower endosteal osteoclastic surface. Higher BMD is observed in GS patients and Ncc(-/-) mice. Relative hypoparathyroidism (human) and bone resistance to PTH (mice), mainly caused by Mg depletion, can explain the low bone remodeling and normal/low serum Ca despite increased renal Ca reabsorption.

  13. Discussing the Negative Influence and Enforcement Term of the Hungry Marketing Tactics%论“饥饿营销”策略的负面影响和实施条件

    Institute of Scientific and Technical Information of China (English)

    刘金锋; 文亚青

    2011-01-01

    Based on the phenomenon of some enterprises like to apply the "Hungry Marketing", this article discussed the negative influence and put forward some enforcement terms on the "Hungry Marketing".%文章在观察部分企业热衷于实施"饥饿营销"策略的基础上,对企业实施"饥饿营销"策略的负面影响进行分析,提出了"饥饿营销"策略的实施条件。

  14. Rare case of nephrotic syndrome: Schimke syndrome

    Directory of Open Access Journals (Sweden)

    Anna Kelly Krislane de Vasconcelos Pedrosa

    Full Text Available Abstract Schimke syndrome corresponds to dysplasia of bone and immunity, associated with progressive renal disease secondary to nephrotic syndrome cortico-resistant, with possible other abnormalities such as hypothyroidism and blond marrow aplasia. It is a rare genetic disorder, with few reports in the literature. The most frequent renal involvement is nephrotic syndrome with focal segmental glomerulosclerosis and progressive renal failure. The objective of this study was to report a case of Schimke syndrome, diagnostic investigation and management of the case.

  15. Fat embolism syndrome

    OpenAIRE

    Jacob George; Reeba George; Dixit, R; Gupta, R C; Gupta, N.

    1997-01-01

    Fat embolism syndrome, an important contributor to the development of acute respiratory distress syndrome, has been associated with both traumatic and nontraumatic disorders. Fat embolization after long bone trauma is probably common as a subclinical event. Fat emboli can deform and pass through the lungs, resulting in systemic embolization, most commonly to the brain and kidneys. The diagnosis of fat embolism syndrome is based on the patient’s history, supported by clinical signs of pulmonar...

  16. Hungry Horse Dam Fisheries Mitigation : Fish Passage and Habitat Improvement in the Upper Flathead River Basin, 1991-1996 Progress Report.

    Energy Technology Data Exchange (ETDEWEB)

    Knotek, W.Ladd; Deleray, Mark; Marotz, Brian L.

    1997-08-01

    In the past 50 years, dramatic changes have occurred in the Flathead Lake and River system. Degradation of fishery resources has been evident, in part due to deterioration of aquatic habitat and introduction of non-endemic fish and invertebrate species. Habitat loss has been attributed to many factors including the construction and operation of Hungry Horse Dam, unsound land use practices, urban development, and other anthropogenic and natural disturbances. Fish migration has also been limited by barriers such as dams and impassible culverts. Cumulatively, these factors have contributed to declines in the distribution and abundance of native fish populations. Recovery of fish populations requires that a watershed approach be developed that incorporates long-term aquatic habitat needs and promotes sound land use practices and cooperation among natural resource management agencies. In this document, the authors (1) describe completed and ongoing habitat improvement and fish passage activities under the Hungry Horse Fisheries Mitigation Program, (2) describe recently identified projects that are in the planning stage, and (3) develop a framework for identifying prioritizing, implementing, and evaluating future fish habitat improvement and passage projects.

  17. Effects of the Operation of Kerr and Hungry Horse Dams on the Kokanee Fishery in the Flathead River System, 1979-1985 Final Research Report.

    Energy Technology Data Exchange (ETDEWEB)

    Clancy, Patrick

    1986-05-01

    This study was undertaken to assess the effects of the operation of Hungry Horse Dam on the kokanee fishery in the Flathead River system. Studies concerning operation of the dam on the Flathead River aquatic biota began in 1979 and continued to 1982 under Bureau of Reclamation funding. These studies resulted in flow recommendations for the aquatic biota in the main stem Flathead River, below the influence of Hungry Horse Dam on the South Fork. Studies concerned specifically with kokanee salmon have continued under Bonneville Power Administration funding since 1982. This completion report covers the entire study period (September 1979 to June 1985). Major results of this study were: (1) development and refinement of methods to assess hydropower impacts on spawning and incubation success of kokanee; (2) development of a model to predict kokanee year class strength from Flathead River flows; and (3) implementation of flows favorable for successful kokanee reproduction. A monitoring program has been developed which will assess the recovery of the kokanee population as it proceeds, and to recommend management strategies to maintain management goals for the kokanee fishery in the river system.

  18. Effects of the Operation of Hungry Horse Dam on the Kokanee Fishery in the Flathead River System, 1984 Annual Progress Report.

    Energy Technology Data Exchange (ETDEWEB)

    Fraley, John J.

    1984-12-01

    This study assessed the effects of the operation of Hungry Horse Dam on the kokanee fishery in the Flathead River system. This report covers the 1983-84 field season concerning the effects of Hungry Horse operations on kokanee abundance and reproductive success in the upper Flathead River system. This report also addresses the projected recovery of the main stem kokanee run under the flow regime recommended by the Department of Fish, Wildlife and Parks and implemented by the Bureau of Reclamation and Bonneville Power Administration in 1982. An estimated 58,775 kokanee reached spawning grounds in the Flathead River System in 1983. The 1983 spawning run was composed of 92% age III + fish, as compared to an average of 80% from 1972-1983. A total of 6883 kokanee redds were enumerated in the main stem Flathead River in 1983. A total of 2366 man-days of angling pressure was estimated during the 1983 kokanee lure fishery in the Flathead River system. Estimated numbers of fry emigrating from McDonald Creek, the Whitefish River and Brenneman's Slough were 13,100,000, 66,254 and 37,198, yielding egg to fry survival rates of 76%, 10.4% and 19.2%.

  19. Bone Densitometry (Bone Density Scan)

    Science.gov (United States)

    ... of DXA Bone Densitometry? What is a Bone Density Scan (DXA)? Bone density scanning, also called dual-energy x-ray absorptiometry ( ... is today's established standard for measuring bone mineral density (BMD). An x-ray (radiograph) is a noninvasive ...

  20. 小儿肾病综合征相关骨代谢异常及防治%Prevention and treatment of nephrotic syndrome associated bone metabolic abnormality in children

    Institute of Scientific and Technical Information of China (English)

    徐海霞; 姚勇

    2015-01-01

    Metabolic bone disease in nephrotic syndrome(NS) are increasingly being renal physician's attention.As calcium binding protein and VitD binding protein losing with a large number of protenuria, the bone metabolic biochemical abnormalities had happened at the beginning of the onset of the nephrotic syndrome, and is further exacerbated by therapeutic high-dose or long course of glucocorticoids (GC) application.The main mechanism of the glucocorticoid-induced osteoporosis (GIOP) is for GC to inhibit the activity of osteoblasts and promote apoptosis of osteoblasts and formation of osteoclasts, resulting in secondary hyperparathyroidism,leading to increasing the risk of osteoporosis,slow growth and fracture,seriously harm to children's physical and mental health.The biomarkers of bone transform can prompt the NS with bone metabolic abnormalities early;vertebral body bone dual-energy X-ray absorptiometry bone mineral density detection is the best method and position to determine GIOP.As the most commonly used and effective means to prevent and control metabolic bone disease, calcium supplements and VitD were always taken when GC was treated for NS, even the dosage of GC was very low.So far, it is still lack of guideline of prevention and treatment of bone metabolic abnormalities in NS in children.%肾病综合征(NS)时的代谢性骨病正日益受到儿肾科医师的关注.在NS起病之初因钙结合蛋白、维生素D结合蛋白自尿中丢失,骨代谢生化异常即已发生.治疗性糖皮质激素(GC)大剂量、长疗程的应用则进一步加剧了骨代谢异常,其主要机制为GC抑制成骨细胞的活性、促进成骨细胞的凋亡以及促进破骨细胞的生成、引起继发性甲状旁腺功能亢进,导致骨质疏松、生长迟缓、骨折风险增加,严重危及儿童身心健康.骨转换的生物标志物可以早期反映NS患儿骨代谢的异常;椎体骨双能X线吸收法骨密度检测是判断GC相关性骨质疏松症的最佳

  1. Association of pioglitazone treatment with decreased bone mineral density in obese premenopausal patients with polycystic ovary syndrome: a randomized, placebo-controlled trial

    DEFF Research Database (Denmark)

    Glintborg, D.; Andersen, Mikael; Hagen, C.;

    2008-01-01

    .948-1.341) g/cm(2) (average decline 1.1%) and femoral neck 0.966 (0.767-1.217) vs. 0.952 (0.760-1.192) g/cm(2) (average decline 1.4%), both P ..., sex hormones, and body composition. CONCLUSION: Pioglitazone treatment was followed by decreased lumbar and hip BMD and decreased measures of bone turnover in a premenopausal study population relatively protected from bone mineral loss Udgivelsesdato: 2008/5...

  2. Hungry for solutions

    Science.gov (United States)

    MacPhee, Cait

    2016-11-01

    As obesity rates continue to rise in many parts of the world, Cait MacPhee explains how soft-matter physicists could help reverse the trend by crafting “functional” foods that promote feelings of fullness and satisfaction

  3. Has Hungry Outgrown Kodaly?

    Science.gov (United States)

    Palotai, Michael

    1978-01-01

    Presents critical reactions to the Kodaly method of of classroom music teaching. Describes a radio panel discussion in Hungary, where the Kodaly teaching method originated and is used exclusively in the schools; while panel members were opposed to the rigid application of the method in Hungary, there is much to be learned from it and its meaning…

  4. Short Bi-Iliac Distance in Prenatal Ullrich-Turner Syndrome

    DEFF Research Database (Denmark)

    Hartling, Ulla B.; Hansen, Birgit Fischer; Keeling, Jean W.;

    2002-01-01

    prenatal; Ullrich-Turner syndrome; pelvis; iliac bone; vertebral column; X chromosome; anthropometry; radiography......prenatal; Ullrich-Turner syndrome; pelvis; iliac bone; vertebral column; X chromosome; anthropometry; radiography...

  5. Transplante de medula óssea nas síndromes mielodisplásicas Bone marrow transplantation in myelodisplastic syndromes

    Directory of Open Access Journals (Sweden)

    Daniel G. Tabak

    2002-01-01

    Full Text Available Cerca de 40% dos pacientes portadores de síndromes mielodisplásicas podem ser curados com o transplante alogênico de medula óssea. Os resultados mais favoráveis podem ser observados em pacientes portadores de anemia refratária que apresentam uma sobrevida livre de recidivas de até 65% em 5 anos. As principais restrições à aplicação desta estratégia à maioria dos pacientes consistem na idade avançada ao diagnóstico e na disponibilidade de um doador compatível. O risco elevado de recidivas em pacientes com número crescente de blastos e alterações citogenéticas de alto risco principalmente identificadas nas mielodisplasias secundárias limitam ainda mais a sua utilização. Embora alguns pacientes possam ser beneficiados com a utilização de quimioterapia citoredutora pré-transplante, esta ainda não foi capaz de demonstrar um benefício claro para a maioria dos pacientes. Nenhum regime preparatório mostrou-se superior, porém a utilização crescente de regimes não mieloablativos favorece o tratamento de um maior número de indivíduos com idade superior a 60 anos. Estudos preliminares também indicam que determinados pacientes podem ser beneficiados com o transplante autogênico e estes resultados devem ser comparados com aqueles utilizando doadores não consangüíneos. Estudos recentes demonstram ainda resultados mais favoráveis com a utilização de precursores hematopoéticos de sangue periférico em pacientes com elevado risco de recidivas. A melhor definição de fatores prognósticos permitirá a seleção ideal de pacientes e o momento mais adequado para a realização do procedimento.Around 40% of patients suffering from myelodisplastic syndromes can be cured by allogeneic bone marrow transplantations. The most favorable results are observed in patients with refractory anemia who present an event free survival of up to 65% at 5 years. The main restrictions in the application of this strategy for the majority of

  6. Transplante de célula-tronco hematopoética para síndrome mielodisplásica Bone marrow transplantation in myelodysplastic syndromes

    Directory of Open Access Journals (Sweden)

    Daniel G. Tabak

    2010-05-01

    Full Text Available As síndromes mielodisplásicas (SMD constituem um grupo de doenças hematológicas caracterizadas por citopenias crônicas, associadas a uma maturação celular anormal. A melhor forma de classificação atual destas patologias é o International Prognostic Scoring System (IPSS, que se baseia no grau de citopenia, número de mieloblastos na medula óssea e alterações citogenéticas. Há quatro estágios: baixo risco, riscos intermediário-1 e 2 e alto risco. Um grupo destes pacientes pode ser curado com o transplante de células-tronco hematopoéticas (TCTH. Esta forma de tratamento pode ser considerada para pacientes com idade inferior a 60 anos, que possuam um doador familiar HLA-idêntico. A opção por esta modalidade terapêutica depende de alguns critérios, que incluem o IPSS, o risco de progressão de doença, o risco de infecção e o estado geral do paciente. O TCTH autólogo pode ser considerado em pacientes que alcancem uma remissão completa citogenética e que não disponham de doador HLAidêntico. Em pacientes não candidatos ao TCTH mieloablativo, uma possibilidade é o transplante com regimes de intensidade reduzida. Estudos recentes têm demonstrado resultados favoráveis com esta opção terapêutica, pois, apesar do alto rico de recaída, as taxas de mortalidade associada ao procedimento são menores. Os pacientes com SMD devem ser dispostos em ensaios clínicos que considerem as comorbidades, DECH e riscos de recaída.The myelodysplastic syndrome (MDS encompasses a series of hematological conditions characterized by chronic cytopenias with abnormal cellular maturation. Based on the cytopenias, number of blast cells in bone marrow and cytogenetic abnormalities, MDS may be best classified by the International Prognostic Scoring System (IPSS in four groups: low risk, intermediate 1, intermediate 2 risks and high risk. A subset of patients can be cured following allogeneic hematopoietic stem cell transplantation (SCT. This

  7. Nursing of patients with bone fascia compartment syndrome after radial artery coronary artery intervention%经桡动脉冠状动脉介入术后并发骨筋膜间室综合征的护理

    Institute of Scientific and Technical Information of China (English)

    陆月兰; 孟丽华; 高文君

    2015-01-01

    目的:总结经桡动脉冠状动脉介入术后患者发生骨筋膜间室综合征的护理对策。方法对2009年1月~2014年12月经桡动脉冠状动脉介入术后并发骨筋膜间室综合征8例患者的临床资料进行回顾性分析,总结护理对策,包括密切观察病情、肿胀的观察和护理、用药护理、疼痛护理和凝血功能监测。结果所有患者出现疼痛,穿刺前臂明显肿胀、变硬,其中6例桡动脉搏动减弱,1例手指牵拉痛,1例肌力减退,1例右上肢无力,经对症治疗后缓解。结论骨筋膜间室综合征的早期观察至关重要,高度重视患者的主诉,针对并发症产生的原因及时采取有效的护理对策,争取内科保守治疗时间,可减少患者痛苦,促进患者早日康复。%Objective To explore the causes of bone fascia compartment syndrome after radial artery coronary artery intervention and sum up the nursing experience. Method The clinical data of 8 patients with bone fascia compartment syndrome after radial artery coronary artery intervention from January 2009 to December 2014 were analyzed retrospectively to summarize the nursing countermeasures, including close observation of illness, swelling and pain nursing, medication and blood and monitoring of coagulation functions. Result The forearm of all patients were painful, swollen and enlarged, 6 of them with radial pulse abating,1 with finger pulling pain, 2 with muscle decreasing. Conclusions The early observation and treatment of bone fascia compartment syndrome are critical. Great importance to the complaints of patients should be attached in view of the causes of complications so that effective nursing strategy can be taken to save time of conservative treatment, alleviate the patients'pains and promote their early recovery.

  8. Bone health in disorders of sex differentiation.

    Science.gov (United States)

    Bertelloni, S; Baroncelli, G I; Mora, S

    2010-09-01

    Sex steroids are main regulators of skeletal growth, maturation and mass in both men and women. People with disorders of sex development (DSD) may experience problems in developing normal bone growth, structure and mass, because abnormal sex steroid secretion or action may be operative. In complete androgen insensitivity syndrome several reports documented reduced bone mineral density (BMD). Reduced BMD is evident in patients with not removed or removed gonads, but it is poorer in the latter, mainly when compliance with estrogen replacement therapy is not guaranteed. Large impairment of BMD does not seem to be present in patients with partial androgen insensitivity syndrome or 5alpha-reductase-2 deficiency, providing that gonads are not removed or that substitutive therapy is optimized. In congenital adrenal hyperplasia, BMD may be impaired as a result of not optimal glucocorticoid administration. In Turner syndrome, impaired BMD may result from the combined actions of estrogen deficiency, low bone dimensions, altered bone geometry, deficient cortical bone, and trabecular bone loss. Optimal estrogen administration seems to be important in preserving bone mass and enhancing trabecular bone volume. On the whole, bone health represents a main clinical issue for the management of persons with disorders of sex differentiation, and well designed longitudinal studies should be developed to improve their bone health and well-being.

  9. Tricuspid regurgitant velocity elevation in a three-year old child with sickle cell anemia and recurrent acute chest syndromes reversed not by hydroxyurea but by bone marrow transplantation

    Directory of Open Access Journals (Sweden)

    Raffaella Colombatti

    2011-09-01

    Full Text Available Elevated Tricuspid Regurgitant Velocity (TRV has been related to higher mortality in adults and to hemolysis, lower oxygen saturation during 6-minute walk test and acute chest syndrome (ACS in children with sickle cell disease (SCD. Hydroxyurea (HU has reduced TRV value in children and adults. We describe a three year old HbSS child with recurrent ACS, hypoperfusion of the left lung, mild hemolysis and persistent TRV elevation. TRV did not normalize after HU, despite improvement in clinical conditions and in baseline laboratory parameters related to hemolysis and blood viscosity, but normalized after bone marrow transplantation (BMT. Our experience suggests that in young patients, TRV reduction can be a positive concomitant effect of BMT.

  10. 如何开展英文绘本阅读教学——赏闵洁“The Hungry Little Snake”

    Institute of Scientific and Technical Information of China (English)

    王佳佳

    2015-01-01

    英语学习需要大量阅读输入,《英语课程标准》要求小学阶段学生能尝试阅读英语故事。对于小学生来说,欣赏着唯美的绘本,感受着有趣的情节,是件无比愉快的事情。闵洁老师教授的一节五年级英文绘本阅读课"The Hungry Little Snake"为英语绘本阅读课教学提供了示范。下面笔者就以这节课为例,谈谈如何开展小学英文绘本阅读课的教学。

  11. Quantification of Hungry Horse Reservoir Water Levels Needed to Maintain or Enhance Reservoir Fisheries; Methods and Data, 1983-1987 Summary Report.

    Energy Technology Data Exchange (ETDEWEB)

    May, Bruce; Michael, Gary; Wachsmuth, John (Montana Department of Fish, Wildlife and Parks, Kalispell, MT)

    1988-06-01

    The Hungry Horse Reservoir study is part of the Northwest Power Planning Council's resident fish and wildlife plan. The plan is responsible for mitigating damages to the fish and wildlife resources caused by hydroelectric development in the Columbia River Basin. The major goal of our study is to quantify seasonal water levels needed to maintain or enhance the reservoir fishery. This study began in May, 1983, and the initial phase will be completed July, 1988. This report summarizes limnological, fish abundance, fish distribution and fish food habits data collected from 1983 to 1988. The effect of reservoir operation upon fish habitat, fish food organisms and fish growth is discussed. 71 refs., 36 figs., 46 tabs.

  12. Scheie syndrome

    Science.gov (United States)

    ... Hurler syndrome) MPS II (Hunter syndrome) MPS IV (Morquio syndrome) MPS III (Sanfilippo syndrome) Causes Scheie syndrome ... Autosomal recessive Cloudy cornea Hearing loss Hurler syndrome Morquio syndrome Review Date 4/20/2015 Updated by: ...

  13. SPECT/CT 骨显像对颞下颌关节紊乱综合征的临床研究%Clinical research of SPECT/CT bone imaging on temporo-mandibular joint dysfunction syndrome

    Institute of Scientific and Technical Information of China (English)

    史聪翀; 刘超

    2015-01-01

    目的:研究放射性核素骨显像对颞下颌关节紊乱综合征的诊断价值。方法对36例颞下颌关节综合征患者行 SPECT/ CT 骨显像,对颞下颌关节的髁状突、下颌升支、下颌角图像进行冠状面、矢状面、横断面采集重建,并计算放射性计数比值。结果骨显像患侧颞下颌关节髁状突、下颌升支、下颌角放射性计数比值分别为6.23±0.59,3.42±0.14,2.75±0.63,与健侧比较差异均有统计学意义(P <0.05)。结论放射性核素骨扫描对颞下颌关节紊乱病的早期器质性病变是很好的检测手段,可以早期发现骨质的细小破坏,从而为选择治疗方法提供参考。%Objective To study the diagnostic value of radionuclide bone imaging on temporo-mandibular joint dysfunction syndrome(TMJD). Methods Conducted SPECT/ CT bone imaging on 36 TMJD patients,gathered and rebuilt coronal plane, vertical plane and transaction of temporal-mandibular joint,mandibular ramus,angle of mandible images,and calculated the ra-dioactive count ratios. Results The radioactive count ratios of bone imaging affected side’s temporal-mandibular joint,mandibu-lar ramus,angle of mandible were 6. 23 ±0. 59,3. 42 ±0. 14 and 2. 75 ±0. 63 respectively,and they had significant difference than those of uninjured side(P <0. 05). Conclusion Radionuclide bone scanning is a good detection method for early temporomandib-ular disorders,so it can early detection of bone damage and provide reference evidence for the choice of treatment method.

  14. Biochemical Assessment of Bone Health in Working Obese Egyptian Females with Metabolic Syndrome; the Effect of Weight Loss by Natural Dietary Therapies

    Directory of Open Access Journals (Sweden)

    Maha I.A. Moaty

    2015-12-01

    CONCLUSION: These results confirm the benefit of doum in improving bone health parameter [25 (OH D/PTH axis] in the MetS patients, beside the MetS criteria. So, we can conclude that natural effective supplements lead towards the optimization of biochemical parameters in favor of a healthy outcome.

  15. Lymphoma associated bone marrow necrosis with raised anticardiolipin antibody.

    Science.gov (United States)

    Murphy, P T; Sivakumaran, M; Casey, M C; Liddicoat, A; Wood, J K

    1998-05-01

    A case of high grade B cell lymphoma presented with bone marrow necrosis, followed by development of extensive marrow fibrosis, the evolution of which was documented by serial magnetic resonance imaging and bone marrow trephine histology. A markedly raised anticardiolipin antibody titre at diagnosis suggests that lymphoma associated antiphospholipid syndrome may have contributed to the aetiology of the bone marrow necrosis.

  16. Bone marrow transplantation in a child with Wiskott-Aldrich syndrome latently infected with acyclovir-resistant (ACV(r)) herpes simplex virus type 1: emergence of foscarnet-resistant virus originating from the ACV(r) virus.

    Science.gov (United States)

    Saijo, Masayuki; Yasuda, Yukiharu; Yabe, Hiromasa; Kato, Shunichi; Suzutani, Tatsuo; De Clercq, Erik; Niikura, Masahiro; Maeda, Akihiko; Kurane, Ichiro; Morikawa, Shigeru

    2002-09-01

    A human leukocyte antigen (HLA)-matched unrelated bone marrow transplantation (BMT) was performed in a 13-year-old patient with the congenital immunodeficiency syndrome, Wiskott-Aldrich syndrome. The patient had a history of acyclovir (ACV)-resistant (ACV(r)) herpes simplex virus type 1 (HSV-1) infections prior to BMT. After BMT, the skin lesions caused by HSV-1 relapsed on the face and genito-anal areas. Ganciclovir (GCV) therapy was initiated, but the mucocutaneous lesions worsened. An HSV-1 isolate recovered from the lesions during this episode was resistant to both ACV and GCV. The ACV(r) isolate was confirmed to have the same mutation in the viral thymidine kinase (TK) gene as that of the previously isolated ACV(r) isolates from the patient. After treatment switch to foscarnet (PFA), there was a satisfactory remission but not a complete recovery. Although the mucocutaneous lesions improved, a PFA-resistant (PFA(r)) HSV-1 was isolated 1 month after the start of PFA therapy. The PFA(r) HSV-1 isolate coded for the same mutation in the viral TK gene as the ACV(r) HSV-1 isolates. Furthermore, the PFA(r) isolate also expressed a mutated viral DNA polymerase (DNA pol) with an amino acid (Gly) substitution for Val at position 715. This is the first report on the clinical course of a BMT-associated ACV(r) HSV-1 infection that subsequently developed resistance to foscarnet as well.

  17. Stocking of Offsite Waters for Hungry Horse Dam Mitigation Creston National Fish Hatchery, FY 2006 Annual Report.

    Energy Technology Data Exchange (ETDEWEB)

    Hooley, Sharon

    2009-03-20

    A total of 350,000, M012 strain, westslope cutthroat trout (WCT) eggs were received from Montana Fish Wildlife & Parks (MFWP), Washoe Park State Fish Hatchery in June of 2005 to accomplish this fishery management objective. These eggs were incubated, hatched and reared entirely inside the hatchery nursery building using a protected well water supply. Fish grew according to schedule and survival was excellent. The hatchery achieved a 0.78 feed fed to pounds gained conversion ratio for this group of WCT. Not all of the progenies from this fish lot were used for Hungry Horse Dam Fishery Mitigation Implementation. Some were used for other regional fishery management projects. Westslope cutthroat trout were reared using approved fish culture techniques as recommended in the USFWS Fish Hatchery Management Handbook and also utilizing a regimen adapted for hatchery specific site conditions. The fish health for these WCT was very good. Survival from first feeding fry stage to stocking was 79%. The hatchery had an annual fish health inspection performed by the USFWS Bozeman Fish Health Center in mid March of 2006. This inspection found all fish lots at Creston to be disease free. The Montana State Fish Health Board has placed the hatchery under a limited quarantine since May of 2005 due to an epizootic of Furunculosis. This classification has allowed the Creston NFH to stock disease free fish in locations approved by regional fish managers. The hatchery has been working with the State Fish Pathologist to remove the limited quarantine classification from the facility. Although fish health for all station fish lots remains disease free, MFWP has asserted it will not remove the limited quarantine until the new influent water treatment system, including the ultraviolet disinfection unit, is running full time, year round. The USFWS is working to secure the additional funding necessary to operate the treatment building year round. Distribution of the WCT took place from March

  18. SAP HO综合征的99 Tcm-MDP SP ECT/CT表现及其诊断价值%Value of 99 Tcm-MDP SPECT/CT bone imaging in diagnosing SAPHO syndrome

    Institute of Scientific and Technical Information of China (English)

    倪建明; 唐平; 华茜; 任天丽

    2015-01-01

    目的:总结滑膜炎、痤疮、脓疱病、骨肥厚、骨炎( SAPHO)综合征的99 Tcm⁃MDP全身骨显像及SPECT/CT影像特点,探讨SPECT/CT在SAPHO综合征诊断中的作用。方法回顾性分析2009年至2014年间6例SAPHO综合征患者(男1例,女5例,平均年龄63岁;病程1个月~7年)的骨显像及SPECT/CT断层显像资料,其中3例患者骨显像后进行了胸锁关节活组织检查。总结SAPHO综合征的全身骨显像及SPECT/CT的影像特点。结果6例患者胸锁关节区骨代谢均升高,其中2例为对称性。 SPECT/CT发现6例患者共8个受累胸锁关节,其中6个以关节侵蚀为主要表现;3例伴胸锁关节周围软组织肿胀;4例伴胸锁关节外病变16处,依次为胸骨及胸骨柄与胸骨体连接处、骶髂关节、椎体、耻骨、胸肋关节、肋骨、颅骨及足。胸骨外病变以骨关节侵蚀破坏为主要表现。结论SPECT/CT可发现SAPHO典型的胸锁关节侵蚀及更多的胸锁关节外病变,能够提高对SAPHO综合征的诊断准确性。%Objective To investigate the imaging characteristics of 99 Tcm⁃MDP bone SPECT/CT imaging in patients with synovitis, acne, pustulosis, hyperostosis, osteitis ( SAPHO) syndrome, and to e⁃valuate its diagnostic value. Methods 99 Tcm⁃MDP whole⁃body bone scan and SPECT/CT imaging were performed in 6 patients ( 1 male, 5 females, average age 63 years) with SAPHO syndrome ( duration:1 month to 7 years) from 2009 to 2014. Three patients underwent biopsy in sternoclavicular joint. Characteris⁃tics of 99 Tcm⁃MDP bone scan and SPECT/CT imaging were investigated. Results 99 Tcm⁃MDP whole⁃body bone scan detected high radioactivity in sternoclavicular joints of all patients, 2 cases were affected bilateral⁃ly and presented typical"bull horn" sign, the other 4 cases were unilaterally. A total of 8 affected sternocla⁃vicular joints were found, and 6 of which showed articular erosion. Three

  19. 发热伴血小板减少综合征28例骨髓象特征分析%Morphological characteristics of bone marrow in severe fever with thrombocytopenia syndrome:analysis of 28 cases

    Institute of Scientific and Technical Information of China (English)

    方汉波; 李世波; 庄晓玲; 方国安; 鲍舟君

    2016-01-01

    Objective To assess the morphological characteristics of bone marrow in patients of severe fever with thrombocytopenia syndrome ( SFTS) and its value in diagnosis.Methods The bone marrow morphology was retrospectively reviewed in 28 laboratory confirmed patients with SFTS from Zhoushan Hospital during January 2012 and December 2015.The correlation between bone marrow -derived macrophage and peripheral blood cells was analyzed with t test.Results All patients presented leukocytopenia and thrombocytopenia.Poor bone marrow hematopoietic function was observed in 23 patients (82%) showing granulocyte, erythrocyte and megakaryocyte hypoplasia , but no pathological hematopoietic disorder was observed.Eighteen patients (64%) had various degrees of increased amount of macrophage in the bone marrow; peripheral white blood cell count and platelets in patients with macrophage ≥0.5% were lower than those with macrophage <0.5%, and the difference was of statistical significance (t =3.836 and 4.499, P<0.01).Conclusion SFTS patients have characteristic bone marrow morphology , and bone marrow examination is beneficial for differentiation of SFTS from blood lymphatic system diseases and other virus infection.%目的:探讨发热伴血小板减少综合征(SFTS)患者的骨髓象特征及其在 SFTS 诊断中的价值。方法回顾性分析2012年1月至2015年12月舟山医院新型布尼亚病毒核酸阳性的28例SFTS 患者的骨髓象特征,并用 t 检验分析骨髓巨噬细胞变化与外周血细胞的关系。结果患者外周血血小板、白细胞减少;23例(82%)患者骨髓造血功能减低,多数患者粒、红、巨核三系细胞增生减低,未见病态造血象;18例(64%)患者可见不同程度的骨髓巨噬细胞增多,巨噬细胞≥0.5%组的外周血白细胞、血小板均低于巨噬细胞<0.5%组,两组差异有统计学意义(t =3.836和4.499,P <0.01)。结论SFTS 患者骨髓象具有一

  20. Premature loss of bone remodeling compartment canopies is associated with deficient bone formation

    DEFF Research Database (Denmark)

    Jensen, Pia Rosgaard; Andersen, Thomas Levin; Søe, Kent;

    2011-01-01

    A remarkable property of bone remodeling is that osteoblasts form bone matrix exactly where and when osteoclasts have removed it. The bone remodeling compartment (BRC) canopies that cover bone surfaces undergoing remodeling, were proposed to be critical players in this mechanism. Here, we provide...... support to this hypothesis by analyzing the changes in prevalence of BRC canopies during the progress of the remodeling cycle in a cohort of healthy individuals and in patients with endogenous Cushing's syndrome (CS), and by relating these changes in prevalence with the extent of bone forming surfaces...

  1. Acquired hyperostosis syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Dihlmann, W.; Hering, L.; Bargon, G.W.

    1988-10-01

    Sterno-costo-clavicular hyperostosis (SCCH) is the most common manifestation of a syndrome, consisting of increased bone metabolism, mostly new bone formation and heterotopic ossification of fibrous tissue, which we have characterised as the acquired hyperostosis syndrome. In part I we discuss the terminology, radiological appearances, scintigraphy, clinical and laboratory findings, bacteriology, histology, nosology, complications, treatment and differential diagnosis of SCCH. Chronic recurrent multifocal osteomyelitis (CRMO) is regarded as a phaenotype of SCCH, depending on the age. CRMO occurs in children, adolescents and young adults, SCCH predominantly in middleaged and elderly adults.

  2. Findings of skin and bones in mastocytosis

    Energy Technology Data Exchange (ETDEWEB)

    Rohner, H.G.; Bartl, R.; Koischwitz, D.; Rodermund, O.E.

    1982-12-01

    The syndrome of mastocytosis can include isolated urticaria pigmentosa, systemic mastocytosis, or the extremely rare form of mast cell leucemia. Our investigations of many patients have shown more frequently than earlier suspected, that the mastocytosis is a systemic disease. The frequency of attacked bone marrow is noteworthy. Because of the inflammatory granulomatous manifestation in bone marrow, considerations of the pathogenesis of an immune and reactive event are taken into account. The mast cell granulomas are mostly found in the endosteal region, which is the reason for frequently occurring bone lesions (half of all patients show bone lesions). The bone changes can develop generalized (osteoporosis-osteosclerosis) or localized (osteolytic-osteosclerotic foci). In clinical work bone biopsies and skeletal radiology are supplementing each other: bone biopsy and skin biopsy give the first diagnosis of mastocytosis and reveal the systemic disease; X-ray pictures give information of shape and dimension of the induced osteopathy.

  3. Eagle's Syndrome

    Directory of Open Access Journals (Sweden)

    Pinheiro, Thaís Gonçalves

    2014-01-01

    Full Text Available Introduction: Eagle's syndrome is characterized by cervicopharyngeal signs and symptoms associated with elongation of the styloid apophysis. This elongation may occur through ossification of the stylohyoid ligament, or through growth of the apophysis due to osteogenesis triggered by a factor such as trauma. Elongation of the styloid apophysis may give rise to intense facial pain, headache, dysphagia, otalgia, buzzing sensations, and trismus. Precise diagnosis of the syndrome is difficult, and it is generally confounded by other manifestations of cervicopharyngeal pain. Objective: To describe a case of Eagle's syndrome. Case Report: A 53-year-old man reported lateral pain in his neck that had been present for 30 years. Computed tomography (CT of the neck showed elongation and ossification of the styloid processes of the temporal bone, which was compatible with Eagle's syndrome. Surgery was performed for bilateral resection of the stylohyoid ligament by using a transoral and endoscopic access route. The patient continued to present pain laterally in the neck, predominantly on his left side. CT was performed again, which showed elongation of the styloid processes. The patient then underwent lateral cervicotomy with resection of the stylohyoid process, which partially resolved his painful condition. Final Comments: Patients with Eagle's syndrome generally have a history of chronic pain. Appropriate knowledge of this disease is necessary for adequate treatment to be provided. The importance of diagnosing this uncommon and often unsuspected disease should be emphasized, given that correct clinical-surgical treatment is frequently delayed. The diagnosis of Eagle's syndrome is clinical and radiographic, and the definitive treatment in cases of difficult-to-control pain is surgical.

  4. Klinefelter Syndrome

    Directory of Open Access Journals (Sweden)

    Hande Peynirci

    2013-09-01

    Full Text Available Klinefelter syndrome is the most common sex chromosome disorder in males. Variation in clinical presentation and insufficient awareness of this syndrome among clinicians lead to fifty percent of patients remain undetected. Typical clinical features of Klinefelter syndrome are various degrees of hypogonadal symptoms, atrophic testes and gynaecomastia. However, these typical clinical symptoms may not be present in all patients. Even if serum testosterone levels are not markedly low, elevated serum follicle-stimulating hormone is a considerable laboratory finding. Definitive diagnosis is made by karyotype analysis of peripheral blood lymphocytes. It must be kept in mind that this analysis may be normal in rare conditions. Early recognition of patients during puberty and handling them as soon as possible is important. Testosterone replacement therapy results in increased muscle mass, bone mineral density and libido. The patient’s mood and self-esteem improve significantly. In general, patients with Klinefelter syndrome are accepted as infertile, however, assisted reproductive techniques may provide fertilization. Turk Jem 2013; 17: 63-7

  5. Incomplete McCune-Albright Syndrome: A Case Report

    OpenAIRE

    Nagehan Aslan

    2014-01-01

    Fibrous dysplasia of bone is a genetic, non-inheritable disease that can cause bone pain, bone deformities and fracture. It has a large clinic spectrum from benign monostotic fibrous dysplasia to McCune-Albright syndrome. Rare McCune-Albright syndrome is characterized by precocious puberty, cafe au lait spots and fibrous dysplasia. Herein we presented a case who was preferred to hospital with pathological fractures and diagnosed with Incomplet McCune Albright syndrome because of the lack of e...

  6. Bone cutting.

    Science.gov (United States)

    Giraud, J Y; Villemin, S; Darmana, R; Cahuzac, J P; Autefage, A; Morucci, J P

    1991-02-01

    Bone cutting has always been a problem for surgeons because bone is a hard living material, and many osteotomes are still very crude tools. Technical improvement of these surgical tools has first been their motorization. Studies of the bone cutting process have indicated better features for conventional tools. Several non-conventional osteotomes, particularly ultrasonic osteotomes are described. Some studies on the possible use of lasers for bone cutting are also reported. Use of a pressurised water jet is also briefly examined. Despite their advantages, non-conventional tools still require improvement if they are to be used by surgeons.

  7. Myelodysplastic Syndrome Occurring in a Patient with Gorlin Syndrome.

    Science.gov (United States)

    Mull, Jamie L; Madden, Lisa M; Bayliss, Susan J

    2016-07-01

    We report a case of myelodysplastic syndrome (MDS) occurring in an African American boy with Gorlin syndrome with a novel PTCH1 mutation. Before developing MDS, the patient had been treated with chemotherapy and radiation for a medulloblastoma. He received a bone marrow transplant for the MDS and eventually died of treatment complications. Secondary hematologic malignancies are a known complication of certain chemotherapeutics, although whether a patient with Gorlin syndrome has a greater propensity for the development of such malignancies is unclear.

  8. 骨髓增生异常综合征患者骨髓细胞免疫表型特点分析%Analysis of the immunophenotypic characteristics of bone marrow cells in patients with myelodysplastic syndromes

    Institute of Scientific and Technical Information of China (English)

    陈永红; 孟凡凯; 曾雯; 秦爽; 高开波; 胡采红; 毛汉文; 孙汉英

    2012-01-01

    Objective: To detect the immunophenotypes of bone marrow cells in patients with myelodysplastic syndrome (MDS) by flow cytometry (FCM) , and to evaluate the diagnostic and prognostic value of the immunophenotypic study in MDS patients. Methods: FCM was used to detect the bone marrow cells immunophenotypes in 44 newly diagnosed patients. The characteristics of expression and distribution of the immunophenotypes were analyzed. Flow cytometry scoring system ( FCSS) was established, and the correlation with WHO classification and international prognostic scoring system(IPSS) , WHO prognostic scoring system(WPSS) were also explored. Results: Multiple bone marrow cells immunephenotype disorders were detected in MDS patients. ①Primitive cells expressed mature antigen CD1 1b and CD15, or lymphocyte associated antigen CD2, CD5, CD7, CD19 or CD56, and the proportion of primitive and immature cells increased. ②In mature granulocytes, the expression pattern of CD13/CD16 and CD11b/CD16 were anomalous, and neutrophilic granules were decreased, and the CD56 was expressed.③Abnormal phenotypes of monocytes were lower than the granulocytes, including the deviant expression of CD56 and CD34, increased proportion of monocytes. ④ Erythroid abnormal phenotypes were the decreased expression of Gly-A and CD71 , the increased proportion of nucleated red blood cells.⑤In patients with MDS, bone marrow cells FCSS were positively correlated with WHO classification, IPSS score and WPSS score. Conclusions: Multiple abnormal immunephenotypes exist in bone marrow cells in patients with MDS, and FCM can be used to detect immunophenotypic disorders of bone marrow cells in order to provide a reference for the diagnosis and prognosis for MDS patients%目的:探讨流式细胞术(FCM)检测骨髓增生异常综合征(MDS)患者骨髓细胞免疫表型在MDS诊断及预后中的价值.方法:用FCM分析44例初诊MDS患者骨髓细胞免疫表型,分析MDS患者免

  9. Craniofacial features in Goldenhar syndrome

    Directory of Open Access Journals (Sweden)

    Vinay C

    2009-06-01

    Full Text Available Goldenhar syndrome also known as oculo-auriculo-vertebral syndrome was first reported by Dr Maurice Goldenhar in 1952. It is a rare disease entity characterized by craniofacial anomalies such as hypoplasia of the mandible and malar bones, microtia, and vertebral anomalies. The etiology of this disease still remains unclear and occurs as sporadic. This report presents goldenhar syndrome in a 12-year-old male patient.

  10. Observation of Progynova in Perimenopausal Syndrome and Effect on Bone Mineral Density%戊酸雌二醇对围绝经期综合征及骨密度影响的临床观察

    Institute of Scientific and Technical Information of China (English)

    何明仙

    2015-01-01

    Objective To study the effect of progynova on perimenopausal syndrome and bone mineral density. Methods 80 female patients with perimenopausal syndrome were included in the study, and randomly divided into control group (n=40) and observation group (n=40). The patients in the control group had oral calcium carbonate D3 tablets and dydrogesterone, while the observation group took Progynova based on treatment of the control group, and then the improve-ments of perimenopausal syndrome symptoms and the changes of bone mineral density before the treatment, 6 months and 12 months after the treatment were observed. Results 6 months after the treatment, the Greene scores of the two groups were both decreased, the differences when compared with that before the treatment in the two groups showed statistical significance (P0. 05). 12 months and 6 months after treatment, the intra-group comparison and comparison among groups were of statistical significance (P0. 05 ) . 12 months after treatment, the bone mineral density concentration was higher than that after 6 months, the intra-group comparison and comparison among groups were of statistical significance differences ( P0. 05 ) , only the changes of progesterone were of statistical differences compared to that before the treatment ( P0.05);治疗12个月组间比较及与组内治疗6个月比较差异均有统计学意义( P均0.05);治疗12个月后两组骨密度较治疗6个月及治疗前均增加,组内比较及组间比较差异均有统计学意义( P均0.05),孕酮组间比较及组内与治疗前比较差异均有统计学意义(P均<0.05);两组治疗12个月后FSH、E2、孕酮水平与治疗6个月后比较差异均有统计学意义(P均<0.05),组间比较差异亦有统计学意义(P均<0.05)。相关性分析显示:FSH、E2、孕酮的表达均与骨密度存在相关性,其中FSH与骨密度呈负相关,E2、孕酮与骨密度呈正相关。结论围绝经期综合征存在激素水平紊

  11. Presence of sarcopenia in asthma–COPD overlap syndrome may be a risk factor for decreased bone-mineral density, unlike asthma: Korean National Health and Nutrition Examination Survey (KNHANES IV and V (2008–2011

    Directory of Open Access Journals (Sweden)

    Lee DW

    2017-08-01

    Full Text Available Dong-Won Lee,1 Hyun-Jung Jin,2 Kyeong-Cheol Shin,2 Jin-Hong Chung,2 Hyoung-Woo Lee,3 Kwan-Ho Lee2 1Division of Pulmonology, Department of Internal Medicine, Andong Sungso Hospital, Andong, 2Division of Pulmonology and Allergy, 3Division of Endocrinology, Department of Internal Medicine, Yeungnam University Hospital, Daegu, South Korea Background: Sarcopenia and decreased bone-mineral density (BMD are common in elderly people, and are major comorbidities of obstructive airway disease (OAD. However, the relationship between sarcopenia and BMD in each OAD phenotype, especially asthma–COPD overlap syndrome (ACOS, is not yet clear. We aimed to evaluate differences in BMD according to the presence of sarcopenia in each OAD phenotype. Materials and methods: Among the research subjects in KNHANES IV and V (2008–2011, 5,562 were ≥50 years old and underwent qualified spirometry and dual-energy X-ray absorptiometry. A total of 947 subjects were included in the study: 89 had asthma, 748 COPD, and 110 ACOS. Results: In the COPD and ACOS phenotypes, T-scores were lower in the sarcopenia group than the nonsarcopenia group. Prevalence rates of osteopenia and osteoporosis were higher in the sarcopenia group than the nonsarcopenia group. (P<0.001 and P=0.017, respectively. The sarcopenia group had higher risks of developing osteopenia, osteoporosis, and low BMD than the nonsarcopenia group in the ACOS phenotype (OR 6.620, 95% CI 1.129–38.828 [P=0.036], OR 9.611, 95% CI 1.133–81.544 [P=0.038], and OR 6.935, 95% CI 1.194–40.272 [P=0.031], respectively. However, in the asthma phenotype, the sarcopenia group showed no increased risk compared with the nonsarcopenia group. Conclusion: In the ACOS phenotype, individuals with sarcopenia had a higher prevalence rate and higher risks of osteopenia and osteoporosis than those without sarcopenia among all OAD phenotypes. Keywords: asthma, chronic obstructive pulmonary disease, asthma–COPD overlap syndrome

  12. [Ethanol metabolism and pathobiochemistry of organ damage--1992. IV. Ethanol in relation to the cardiovascular system. Hematologic, immunologic, endocrine disorders and muscle and bone damage caused by ethanol. Fetal alcohol syndrome].

    Science.gov (United States)

    Zima, T

    1993-01-01

    Peripheral vasodilatation with increased cardiac output, tachycardia and increased blood pressure are described after alcohol administration. An increased HDL-cholesterol is found in moderate drinkers (both HDL-2 and HDL-3 fractions), with diminishing risk of coronary heart diseases. Acute ethanol intake causes an increased the level of triglycerides without changes in HDL-cholesterol level. This may be put into correlation with higher incidence of cardiovascular diseases in so-called "week-end" drinkers. Alcohol abuse may result in central diabetes insipidus. An increased elimination of lactate diminishes tubular secretion of uric acid with subsequent secondary hyperuricemia. Ethanol reduced the number of lymphocytes, reduces phagocytosis by macrophages and diminishes the activity of NK-cells. Bone marrow cellulity diminishes with the subsequent reduction in erythropoiesis, trombopoiesis and leukopoiesis. Alcohol may cause sideropenic and megaloblastic anemia. There are two forms of alcohol muscle injury: the acute one, with myonecrosis and inflammatory reaction, and chronic one, with muscle weakness and atrophy. Alcohol is one of etiologic factors of osteoporosis. An acute intoxication result in transitory hypoparatthyreoidism, while chronic ethanol intake make grow the PTH level and decreases the level of D vitamin metabolises. Stimulation of cortisol secretion, decrease of testosterone level and a reversible decrease of T3 and T4 levels have been described following ethanol administration. Hypothalamic-pituitary-adrenal axis suffers alteration in alcoholics, and secondary amenorrhea is observed in female alcoholics. Ethanol behaves as an agonist on GABA receptor. Fetal alcohol syndrome together with Down's syndrome and spina bifida are the most frequent reasons of mental retardation in developed countries. Toxicity of ethanol affects the whole pregnancy period.(ABSTRACT TRUNCATED AT 250 WORDS)

  13. Bone x-ray

    Science.gov (United States)

    ... or broken bone Bone tumors Degenerative bone conditions Osteomyelitis (inflammation of the bone caused by an infection) ... Multiple myeloma Osgood-Schlatter disease Osteogenesis imperfecta Osteomalacia Osteomyelitis Paget disease of the bone Rickets X-ray ...

  14. Investigation on indicators of bone metabolism in middle-aged male patients with metabolic syndrome%中年男性代谢综合征患者骨代谢指标变化研究

    Institute of Scientific and Technical Information of China (English)

    唐正和

    2013-01-01

    ,并引发骨质疏松、骨量减少.其骨代谢异常与胰岛素抵抗相关.%Objective To investigate the influence of metabolic syndrome (MS) on bone metabolism in middle-aged male patients with MS by measuring indicators of bone metabolism.Methods Among people who underwent physical examination from October 2010 to May 2013,110 middle-aged male patients with MS were selected and enrolled in MS group and 36 middle-aged men without MS were selected and enrolled in non-MS group.In MS group,27 patients with osteoporosis were enrolled in MS with osteoporosis group and 36 patients with decreased bone mass were enrolled in MS with decreased bone mass group.In each group:body mass index (BMI) and homeostasis model assessment for insulin resistance (HOMA-IR) was calculated;systolic blood pressure (SBP),diastolic blood pressure (DBP) and waist circumference was measured;blood biochemical indicators including fasting plasma glucose (FPG),2 h postprandial plasma glucose (2 h PG),fasting insulin (FINS),total cholesterol (TC),triglyceride (TG),low density lipoprotein-cholesterol (LDL-C) and high density hpoprotein-cholesterol (HDL-C) was tested; bone metabolic indicators including serum calcium,phosphate,alkaline phosphatase,25-hydroxy vitamin D [25-(OH)D3],procollagen type Ⅰ amino-terminal prcpeptide (PINP),parathyroid hormone (PTH),osteocalcin and urinary C-terminal telopeptide of type Ⅰ collagen (U-CTX),urine calcium,urine creatinine (Cr) were tested;bone mineral density(BMD) of lumber spine was tested too.Subjects above were compared among the four groups.The correlation of BMD with other bone metabolic indicators and HOMA-IR was also investigated in MS with osteoporosis group.Results The incidence of abnormal bone metabolism in MS group was 57.3% (63/110),while in non-MS group was 11.1% (4/36),and there was significant difference between two groups (x2 =6.55,P < 0.01).Compared with non-MS group,MS group,MS with osteoporosis group and MS with decreased bone

  15. Fibrous dysplasia of bone: a clinicopathologic review

    Directory of Open Access Journals (Sweden)

    Mohan H

    2011-11-01

    Full Text Available Harsh Mohan1, Preeti Mittal1, Irneet Mundi1, Sudhir Kumar21Department of Pathology, 2Department of Orthopedics, Government Medical College, Sector 32, Chandigarh, IndiaAbstract: Fibrous dysplasia of the bones is an uncommon congenital skeletal disorder that is found equally in both genders and is not inherited. Its etiology has been linked to an activating mutation of Gsα and the downstream effects of the resultant increase in cAMP. Fibrous dysplasia is categorized as either monostotic or polyostotic, and may occur as a component of McCune-Albright syndrome or the rare Mazabraud syndrome. Long bones, skull bones, and ribs are the most commonly affected bones. The radiological picture is somewhat variable, including a ground-glass appearance, expansion of the bone, and sclerosis surrounding the lesion. Histologically, fibrous dysplasia shows irregularly-shaped trabeculae of immature, woven bone in a background of variably cellular, loosely arranged fibrous stroma. It may be complicated by pathologic fracture, and rarely by malignant transformation. This review examines interesting issues surrounding the etiology of fibrous dysplasia, its clinical and laboratory manifestations, radiological picture, utility of bone biopsy, gross and microscopic pathology, complications, and its differential diagnostic considerations.Keywords: fibrous dysplasia, McCune-Albright syndrome, monostotic form, polyostotic form

  16. A 10-year follow-up of transpedicular screw fixation and intervertebral autogenous posterior iliac crest bone graft or intervertebral B-Twin system in failed back surgery syndrome

    Science.gov (United States)

    Cincu, Rafael; Lorente, Francisco de Asis; Gomez, Joaquin; Eiras, Jose; Agrawal, Amit

    2015-01-01

    Background: The spine surgeons have been combining anterior and posterolateral fusion (circumferential fusion) as the final solution to treat spinal disorders and many have been using it to treat failed back surgery syndrome (FBSS). In present study, we analyzed and compared the clinical and radiological outcomes in patients with transpedicular screw fixation and intervertebral autogenous posterior iliac crest bone graft or in patients with transpedicular screw fixation and intervertebral B-Twin system for FBSS with a follow-up period of 10 years after the surgery. Materials and Methods: This study was a retrospective case study performed on 55 patients with FBSS. Clinical and radiological changes were compared between the two groups of patients on the basis of improvement of back pain, radicular pain, and work capacity. Outcome was measured in terms of Oswestry Low Back Pain Disability Index, and the changes in pain and function were documented every year from before surgery until 2012. We analyzed the evolution of 55 cases of FBSS those underwent segmental circumferential posterior fusions from June 2001 to February 2003, operated by a single surgeon and followed up during 10 years until February 2012. The patients were divided into 2 groups: In 25 patients, posterolateral fusions with Legacy™ (Medtronic, Inc. NYSE: MDT) screws and intersomatic autogenous posterior iliac crest bone graft was performed, and, in 30 patients, posterolateral fusions with the same screws and intersomatic fusion B-Twin (Biomet Spain Orthopaedics, S.L.) system was performed. In all cases, we used posterior lumbar interbody fusion (PLIF)/transforaminal lumbar interbody fusion (TLIF) approach for intervertebral graft, and the artrodesis was supplemented at intertransverse level with Autologus Growth Factor (AGF-MBA INCORPORADO, S.A.). The outcome was measured in terms of Oswestry Low Back Pain Disability Index, and the changes in pain and function were documented every year and compared

  17. A 10-year follow-up of transpedicular screw fixation and intervertebral autogenous posterior iliac crest bone graft or intervertebral B-Twin system in failed back surgery syndrome.

    Science.gov (United States)

    Cincu, Rafael; Lorente, Francisco de Asis; Gomez, Joaquin; Eiras, Jose; Agrawal, Amit

    2015-01-01

    The spine surgeons have been combining anterior and posterolateral fusion (circumferential fusion) as the final solution to treat spinal disorders and many have been using it to treat failed back surgery syndrome (FBSS). In present study, we analyzed and compared the clinical and radiological outcomes in patients with transpedicular screw fixation and intervertebral autogenous posterior iliac crest bone graft or in patients with transpedicular screw fixation and intervertebral B-Twin system for FBSS with a follow-up period of 10 years after the surgery. This study was a retrospective case study performed on 55 patients with FBSS. Clinical and radiological changes were compared between the two groups of patients on the basis of improvement of back pain, radicular pain, and work capacity. Outcome was measured in terms of Oswestry Low Back Pain Disability Index, and the changes in pain and function were documented every year from before surgery until 2012. We analyzed the evolution of 55 cases of FBSS those underwent segmental circumferential posterior fusions from June 2001 to February 2003, operated by a single surgeon and followed up during 10 years until February 2012. The patients were divided into 2 groups: In 25 patients, posterolateral fusions with Legacy™ (Medtronic, Inc. NYSE: MDT) screws and intersomatic autogenous posterior iliac crest bone graft was performed, and, in 30 patients, posterolateral fusions with the same screws and intersomatic fusion B-Twin (Biomet Spain Orthopaedics, S.L.) system was performed. In all cases, we used posterior lumbar interbody fusion (PLIF)/transforaminal lumbar interbody fusion (TLIF) approach for intervertebral graft, and the artrodesis was supplemented at intertransverse level with Autologus Growth Factor (AGF-MBA INCORPORADO, S.A.). The outcome was measured in terms of Oswestry Low Back Pain Disability Index, and the changes in pain and function were documented every year and compared from before surgery to the final

  18. Effect of the Operation of Kerr and Hungry Horse Dams on the Reproductive Success of Kokanee in the Flathead System; Technical Addendum to the Final Report.

    Energy Technology Data Exchange (ETDEWEB)

    Beattie, Will; Tohtz, Joel

    1990-03-01

    This addendum to the Final Report presents results of research on the zooplankton and fish communities of Flathead Lade. The intent of the Study has been to identify the impacts of hydroelectric operations at Kerr and Hungry Horse Dam on the reproductive success of kokanee an to propose mitigation for these impacts. Recent changes in the trophic ecology of the lake, have reduced the survival of kokanee. In the last three year the Study has been redirected to identify, if possible, the biological mechanisms which now limit kokanee survival, and to test methods of enhancing the kokanee fishery by artificial supplementation. These studies were necessary to the formulation of mitigation plans. The possibility of successfully rehabilitating the kokanee population, is the doubt because of change in the trophic ecology of the system. This report first presents the results of studies of the population dynamics of crustacean zooplankton, upon which planktivorous fish depend. A modest effort was directed to measuring the spawning escapement of kokanee in 1988. Because of its relevance to the study, we also report assessments of 1989 kokanee spawning escapement. Hydroacoustic assessment of the abundance of all fish species in Flathead Lake was conducted in November, 1988. Summary of the continued efforts to document the growth rates and food habits of kokanee and lake whitefish are included in this report. Revised kokanee spawning and harvest estimates, and management implications of the altered ecology of Flathead Lake comprise the final sections of this addendum. 83 refs., 20 figs., 25 tabs.

  19. Spinal-cord syndrome due to non-compressive Paget's disease of bone: a spinal-artery steal phenomenon reversible with calcitonin.

    Science.gov (United States)

    Herzberg, L; Bayliss, E

    1980-07-05

    A 76-year-old man had progressive low back pain, leg weakness, and sensory loss. Radiology showed changes consistent with wide-spread Paget's disease, but no cord compression or involvement of nerve roots was detected by myelography or computerised axial tomography. His symptoms were relieved within 12 days of starting 100 MRC units of subcutaneous salmon calcitonin and recurred when calcitonin was discontinued for 5 days. The improvement continued on calcitonin treatment for 1 year, with falls in serum alkaline phosphatase and urinary hydroxyproline excretion. It is suggested that calcitonin treatment, in reducing the abnormally high metabolic activity of the diseased bone, and hence its vascular perfusion, allows more blood to reach the spinal cord.

  20. Histopathological perspective on bone marrow oedema, reactive bone change and haemorrhage

    Energy Technology Data Exchange (ETDEWEB)

    Thiryayi, W.A.; Thiryayi, S.A. [Department of Histopathology, Manchester Royal Infirmary, Oxford Road, Manchester M13 9WL (United Kingdom); Freemont, A.J. [Division of Regenerative Medicine, University of Manchester, Oxford Road, Manchester M13 9PT (United Kingdom)], E-mail: tony.freemont@manchester.ac.uk

    2008-07-15

    This article presents a systematic review of the current biomedical literature surrounding the aetiopathogenesis and histopathological features of bone marrow oedema, reactive bone change and haemorrhage. Bone marrow oedema is generally demonstrated as a non-specific finding on magnetic resonance imaging in association with infections, tumours and avascular necrosis. When it occurs in isolation as a primary event not triggered by any obvious bony pathology in the clinical setting of debilitating joint pain, it constitutes the 'bone marrow oedema syndrome'. Although the latter diagnosis is based on magnetic resonance (MR) imaging, showing the lesion as areas of signal hyperintensity within the marrow, recent radiology-histology correlational studies have shown variably interstitial marrow oedema, necrosis, fibrosis and trabecular bone abnormalities. In light of these facts, the use of the term bone marrow oedema syndrome in a radiological context might be considered questionable, but histopathological techniques are not sensitive in detecting increased extracellular fluid. Reactive bone changes may be focal or diffuse and usually amount to increased bone formation. Bone marrow haemorrhage, due to trauma, results in bone bruising, a condition in which the size of the bruise and associated osteochondral injury determines the outcome, although the natural history of these lesions is still being researched.

  1. Chronic kidney disease and bone metabolism.

    Science.gov (United States)

    Kazama, Junichiro James; Matsuo, Koji; Iwasaki, Yoshiko; Fukagawa, Masafumi

    2015-05-01

    Chronic kidney disease-related mineral and bone disease (CKD-MBD) is a syndrome defined as a systemic mineral metabolic disorder associated with CKD, and the term renal osteodystrophy indicates a pathomorphological concept of bone lesions associated with CKD-MBD. Cortical bone thinning, abnormalities in bone turnover and primary/secondary mineralization, elevated levels of circulating sclerostin, increased apoptosis in osteoblasts and osteocytes, disturbance of the coupling phenomenon, iatrogenic factors, accumulated micro-crackles, crystal/collagen disorientation, and chemical modification of collagen crosslinks are all possible candidates found in CKD that could promote osteopenia and/or bone fragility. Some of above factors are the consequences of abnormal systemic mineral metabolism but for others it seem unlikely. We have used the term uremic osteoporosis to describe the uremia-induced bone fragility which is not derived from abnormal systemic mineral metabolism. Interestingly, the disease aspect of uremic osteoporosis appears to be similar to that of senile osteoporosis.

  2. [Dermatologic aspects of SAPHO-syndrome].

    Science.gov (United States)

    Károlyi, Z; Harhai, I; Erós, N

    2001-08-19

    SAPHO syndrome (synovitis, acne, pustulosis, hyperostosis, osteitis) as a new disease entity was first described in 1987. The syndrome is characterized by the presence of pustular dermatoses together with aseptic osteoarticular lesions. The bone involvement includes hyperostosis, aseptic osteomyelitis or arthritis of the anterior chest wall, sacroiliac joints or long bones. Skin diseases include acne conglobata or acne fulminans, palmoplantar pustulosis and hidradenitis suppurativa. Authors describe the dermatological relationship of SAPHO syndrome reporting their 7 cases (3 acne fulminans, 4 palmoplantar pustulosis). Authors draw attention to the isotretinoin therapy as a possible provoking factor of the articular symptoms, and they emphasize the diagnostic role of bone scintigraphy.

  3. Therapeutic trial of intensified conditioning regimen with high-dose cytosine arabinoside, cyclophosphamide and either total body irradiation or busulfan followed by allogeneic bone marrow transplantation for myelodysplastic syndrome in children

    Energy Technology Data Exchange (ETDEWEB)

    Nagatoshi, Yoshihisa; Okamura, Jun; Ikuno, Yoshiko; Akamatsu, Minoru; Tasaka, Hideko [National Kyushu Cancer Center, Fukuoka (Japan)

    1997-04-01

    Ten children with myelodysplastic syndrome underwent an allogeneic bone marrow transplantation (BMT) with an intensified conditioning regimen. The median age of the patients was 8 years (range 2-10), and included 6 males and 4 females. The subtype of the disease was refractory anemia (RA) in 4, RA with excess blasts (RAEB) in 4, RAEB in transformation (RAEB-T) in 1, and juvenile chronic myelogenous leukemia (JCML) in 1. All patients were conditioned with high-dose cytosine arabinoside (12000 mg/m{sup 2}), cyclophosphamide (120 mg/kg) and either total body irradiation (10-13.2 Gy) or busulfan (16 mg/kg or 560 mg/m{sup 2}). Cyclosporine A and/or methotrexate were used for the prophylaxis of graft-versus-host disease (GVHD). Engraftment was prompt in all but one patient. Severe acute GVHD (grade 3) (n=1), interstitial pneumonitis (n=1) and veno-occlusive disease of the liver (n=1) occurred. The disease relapsed in one patient with RAEB-T. Seven of the 10 patients were alive and disease free 2-74 months after BMT. The disease-free survival rate at 4 years was 69{+-}15%. All surviving patients were in the full performance status. The examined children with MDS tolerated this intensified conditioning regimen well. (author)

  4. Study Protocol – Metabolic syndrome, vitamin D and bone status in South Asian women living in Auckland, New Zealand: A randomised, placebo-controlled, double-blind vitamin D intervention

    Directory of Open Access Journals (Sweden)

    Kruger Marlena C

    2008-07-01

    Full Text Available Abstract Background The identification of the vitamin D receptor in the endocrine pancreas suggests a role for vitamin D in insulin secretion. There is also some limited evidence that vitamin D influences insulin resistance, and thus the early stages of the development of type 2 diabetes. Methods Eighty-four women of South Asian origin, living in Auckland, New Zealand, were randomised to receive either a supplement (4000IU 25(OHD3 per day or a placebo for 6 months. At baseline, all participants were vitamin D deficient (serum 25(OHD3 1.93 and/or hyperinsulinaemic, hyperglycemic or had clinical signs of dislipidaemia. Changes in HOMA-IR, lipids, parathyroid hormone, calcium and bone markers were monitored at 3 months and 6 months. Discussion This randomised, controlled trial will be the first to investigate the effect of vitamin D supplementation on insulin resistance in non-diabetic subjects. It will subsequently contribute to the growing body of evidence about the role of vitamin D in metabolic syndrome.Registered clinical. Trial registration Registered clinical trial – Registration No. ACTRN12607000642482

  5. Androgen receptor (AR) pathophysiological roles in androgen-related diseases in skin, bone/muscle, metabolic syndrome and neuron/immune systems: lessons learned from mice lacking AR in specific cells.

    Science.gov (United States)

    Chang, Chawnshang; Yeh, Shuyuan; Lee, Soo Ok; Chang, Ta-Min

    2013-01-01

    The androgen receptor (AR) is expressed ubiquitously and plays a variety of roles in a vast number of physiological and pathophysiological processes. Recent studies of AR knockout (ARKO) mouse models, particularly the cell type- or tissue-specific ARKO models, have uncovered many AR cell type- or tissue-specific pathophysiological roles in mice, which otherwise would not be delineated from conventional castration and androgen insensitivity syndrome studies. Thus, the AR in various specific cell types plays pivotal roles in production and maturation of immune cells, bone mineralization, and muscle growth. In metabolism, the ARs in brain, particularly in the hypothalamus, and the liver appear to participate in regulation of insulin sensitivity and glucose homeostasis. The AR also plays key roles in cutaneous wound healing and cardiovascular diseases, including atherosclerosis and abdominal aortic aneurysm. This article will discuss the results obtained from the total, cell type-, or tissue-specific ARKO models. The understanding of AR cell type- or tissue-specific physiological and pathophysiological roles using these in vivo mouse models will provide useful information in uncovering AR roles in humans and eventually help us to develop better therapies via targeting the AR or its downstream signaling molecules to combat androgen/AR-related diseases.

  6. 99Tcm-MDP whole body bone imaging in 25 patients with SAPHO syndrome%SAPHO综合征25例99Tcm -MDP全身骨显像分析

    Institute of Scientific and Technical Information of China (English)

    付占立; 范岩; 张建华; 廖栩鹤; 林景辉; 王荣福

    2011-01-01

    目的 分析滑膜炎、痤疮、脓疱病、骨肥厚、骨炎综合征(即SAPHO综合征)99Tcm-MDP全身骨显像的影像特点,评价骨显像在SAPHO综合征中的应用价值.方法 回顾分析25例确诊为SAPHO综合征患者的临床、骨显像及其他影像学资料,将骨骼病变部位分为前胸壁(包括锁骨、胸骨以及胸锁关节、肋胸连接、胸骨柄体连接)、脊柱、下颌骨、骶髂关节以及四肢骨,总结SAPHO综合征骨显像特点,并与其他影像学结果进行比较.结果 25例患者中,32% (8/25)合并有皮肤损害;48%( 12/25)骨活组织检查证实为慢性非特异性炎性反应.骨显像发现全部患者均有前胸壁受累,胸肋锁骨关节和连接受累率为96%( 24/25),其中胸锁关节、第一肋胸连接以及胸骨柄体连接的受累率分别为60%( 15/25)、48%( 12/25)和44%( 11/25),但骨显像呈典型“牛头”征表现的患者仅有20%(5/25);脊柱及四肢骨受累率分别为44% (11/25)和16% (4/25).骨显像发现68%( 17/25)患者有隐匿性病灶,主要分布在第一肋胸连接、胸锁关节、胸骨柄体连接和脊柱.结论 胸肋锁骨关节和连接受累为SAPHO综合征的影像特点,结合临床及其他影像学资料,99Tcm-MDP全身骨显像可用于SAPHO综合征患者的诊断与鉴别诊断、发现隐匿病灶以及评价病灶活性.%Objective To investigate the usefulness of 99Tcm-MDP whole body bone scintigraphy (WBBS) in patients with synovitis,acne,pustulosis,hyperostosis,osteitis (SAPHO) syndrome.Methods 99Tcm- MDP WBBS was performed in 25 patients (6 males,19 females,mean age =(55.1 ±9.8) years)with SAPHO syndrome.Bone lesions were classified into five categories:anterior chest wall,spine,mandible,sacroiliac joint,and limbs.The typical scintigraphic manifestations of SAPHO syndrome were summarized and compared to other radiological imaging data.Results Among 25 patients,32% of cases (8/25)were associated with skin lesion; 48

  7. Dumping Syndrome

    Science.gov (United States)

    ... System & How it Works Digestive Diseases A-Z Dumping Syndrome What is dumping syndrome? Dumping syndrome occurs when food, especially sugar, ... the colon and rectum—and anus. What causes dumping syndrome? Dumping syndrome is caused by problems with ...

  8. Bone pain

    DEFF Research Database (Denmark)

    Frost, Charlotte Ørsted; Hansen, Rikke Rie; Heegaard, Anne-Marie

    2016-01-01

    Skeletal conditions are common causes of chronic pain and there is an unmet medical need for improved treatment options. Bone pain is currently managed with disease modifying agents and/or analgesics depending on the condition. Disease modifying agents affect the underlying pathophysiology...... of the disease and reduce as a secondary effect bone pain. Antiresorptive and anabolic agents, such as bisphosphonates and intermittent parathyroid hormone (1-34), respectively, have proven effective as pain relieving agents. Cathepsin K inhibitors and anti-sclerostin antibodies hold, due to their disease...... modifying effects, promise of a pain relieving effect. NSAIDs and opioids are widely employed in the treatment of bone pain. However, recent preclinical findings demonstrating a unique neuronal innervation of bone tissue and sprouting of sensory nerve fibers open for new treatment possibilities....

  9. Bone graft

    Science.gov (United States)

    ... around the area. The bone graft can be held in place with pins, plates, or screws. Why ... Orthopaedic Surgery, San Francosco, CA. Also reviewed by David Zieve, MD, MHA, Isla Ogilvie, PhD, and the ...

  10. Low Bone Density

    Science.gov (United States)

    ... Information › Bone Density Exam/Testing › Low Bone Density Low Bone Density Low bone density is when your ... compared to people with normal bone density. Detecting Low Bone Density A bone density test will determine ...

  11. Nasal bone abnormalities accompanied by protruding tongue on ultrasound screening in detecting Down syndrome in the second and third trimesters of gestation%中晚孕期超声显示鼻骨异常伴舌外伸检出唐氏综合征

    Institute of Scientific and Technical Information of China (English)

    张晓航; 李锐; 冉素真

    2014-01-01

    目的 探讨中晚孕期超声显示胎儿颜面部鼻骨异常伴伸舌辅助诊断唐氏综合征(DS)的价值.方法 纳入资料完整的经胎儿系统超声筛查及羊水或脐带血染色体检查的中晚孕期孕妇5657名.观察并分析正中矢状切面胎儿鼻骨发育情况及舌尖位置,比较鼻骨异常、伸舌及鼻骨异常伴伸舌检出DS的效能.结果 经染色体检查确诊49胎DS,其中鼻骨异常伴伸舌33胎、单纯鼻骨异常10胎、单纯伸舌2胎,无阳性表现4胎.根据鼻骨异常伴伸舌诊断DS的敏感度、特异度、阳性预测值、阴性预测值分别为67.35%(33/49)、99.91%(5603/5608)、86.84%(33/38)和99.72%(5603/5619),其中阳性预测值较鼻骨异常、伸舌及鼻骨异常或伸舌明显增高(P<0.0001).结论 中晚孕期颜面部正中矢状切面观察胎儿鼻骨异常和伸舌的表现,可提高DS的产前检出率.%Objective To investigate the value of nasal bone abnormalities accompanied by protruding tongue on ultrasound screening in detecting Down syndrome during the second and third trimesters of gestation.Methods Data from 5657 pregnant women who had both ultrasound examination and cordocentesis or amniocentesis for antenatal karyotyping were enrolled.Nasal bone abnormalities and position of tongue tip of the fetus were observed and recorded.The diagnostic ability cacy of nasal bone abnormalities,protruding tongue and nasal bone abnormalities accompanied by protruding tongue for Down syndrome was calculated.Results Forty-nine fetuses of Down syndrome were diagnosed by antenatal karyotyping.Among them,33 with nasal bone abnormalities accompanied by protruding tongue,2 with protruding tongue alone,10 with nasal bone abnormalities alone and 4 with no abnormality.The diagnostic sensitivity,specificity,positive and negative predictive values of nasal bone abnormalities accompanied by protruding tongue was 67.35 % (33/49),99.91% (5603/5608),86.84% (33/38) and 99.72% (5603

  12. Bone marrow transplant

    Science.gov (United States)

    Transplant - bone marrow; Stem cell transplant; Hematopoietic stem cell transplant; Reduced intensity nonmyeloablative transplant; Mini transplant; Allogenic bone marrow transplant; Autologous bone marrow transplant; Umbilical ...

  13. A Case of the nephrotic syndrome in bone marrow transplantation recipient, histologically showing overlapped glomerular lesions of thrombotic microangiopathy and membranous nephropathy.

    Science.gov (United States)

    Masuzawa, Naoko; Nishimura, Ayako; Kitani, Takashi; Tamagaki, Keiichi; Sugitani, Mio; Nagoshi, Hisao; Kuroda, Junya; Konishi, Eiichi

    2017-09-20

    Nephrotic syndrome (NS) rarely occurs in post-hematopoietic stem cell transplantation (HSCT) recipients but represents the renal manifestation of graft-versus-host disease (GVHD). Membranous nephropathy (MN) accounts for almost two thirds of post-HSCT NS and is caused by immune complex deposition. Renal thrombotic microangiopathy (TMA) without fulfillment of clinical criteria for TMA has been underreported because of reduced opportunity for histological examination. However, renal TMA has recently been reported in association with GVHD and humoral immunological reactions. Although both MN and TMA after HSCT are associated with GVHD and immunological abnormalities, these diseases are exceptionally coexistent in renal biopsy specimens. We herein describe a case of post-HSCT NS, histologically showing overlapped lesions of TMA and MN. Renal biopsy specimen after presentation of NS revealed early stage MN and TMA with evidence of chronicity. TMA was thought to have preceded MN, and renal biopsy at the phase of pre-nephrotic proteinuria might reveal earlier histological changes of isolated renal TMA. Detection of subclinical renal TMA earlier by spontaneous renal biopsy can help prevent progression of renal injury or overlapping of other renal pathologies. We also demonstrated Th2 predominant intraglomerular infiltration of lymphocytes by immunohistochemistry. © 2017 Japanese Society of Pathology and John Wiley & Sons Australia, Ltd.

  14. Fibrillin microfibrils in bone physiology.

    Science.gov (United States)

    Smaldone, Silvia; Ramirez, Francesco

    2016-01-01

    The severe skeletal abnormalities associated with Marfan syndrome (MFS) and congenital contractural arachnodactyly (CCA) underscore the notion that fibrillin assemblies (microfibrils and elastic fibers) play a critical role in bone formation and function in spite of representing a low abundance component of skeletal matrices. Studies of MFS and CCA mice have correlated the skeletal phenotypes of these mutant animals with distinct pathophysiological mechanisms that reflect the contextual contribution of fibrillin-1 and -2 scaffolds to TGFβ and BMP signaling during bone patterning, growth and metabolism. Illustrative examples include the unique role of fibrillin-2 in regulating BMP-dependent limb patterning and the distinct impact of the two fibrillin proteins on the commitment and differentiation of marrow mesenchymal stem cells. Collectively, these findings have important implication for our understanding of the pathophysiological mechanisms that drive age- and injury-related processes of bone degeneration.

  15. The pathology of bone marrow failure.

    Science.gov (United States)

    Leguit, Roos J; van den Tweel, Jan G

    2010-11-01

    An important indication for bone marrow investigation is the presence of bone marrow failure, which manifests itself as (pan)cytopenia. The causes of cytopenia are varied and differ considerably between childhood and adulthood. In the paediatric age group inherited bone marrow failure syndromes are important causes of bone marrow failure, but they play only a minor role in later life. This review gives a comprehensive overview of bone marrow failure disorders in children and adults. We classified the causes of bone marrow failure according to the main presenting haematological abnormality, i.e. anaemia, neutropenia, thrombocytopenia or pancytopenia. The following red cell disorders are discussed: red cell aplasia, sideroblastic anaemia, congenital dyserythropoietic anaemia, haemolytic anaemia, paroxysmal nocturnal haemoglobinuria, iron deficiency anaemia, anaemia of chronic disease and megaloblastic anaemia. The neutropenias occur in the context of Shwachman-Diamond syndrome (SDS), severe congenital neutropenia, cyclic neutropenia, immune-related neutropenia and non-immune neutropenia. In addition, the following causes of thrombocytopenia are discussed: congenital amegakaryocytic thrombocytopenia, thrombocytopenia with absent radii, immune-related thrombocytopenia and non-immune thrombocytopenia. Finally, we pay attention to the following pancytopenic disorders: Fanconi anaemia, dyskeratosis congenita, aplastic anaemia, myelodysplastic syndromes and human immunodeficiency virus (HIV) infection. © 2010 Blackwell Publishing Limited.

  16. Genetics Home Reference: Klippel-Feil syndrome

    Science.gov (United States)

    ... two or more spinal bones in the neck ( cervical vertebrae ). The vertebral fusion is present from birth. Three ... these proteins leads to incomplete separation of the cervical vertebrae in people with Klippel-Feil syndrome . When Klippel- ...

  17. Bone development

    DEFF Research Database (Denmark)

    Tatara, M.R.; Tygesen, Malin Plumhoff; Sawa-Wojtanowicz, B.

    2007-01-01

    The objective of this study was to determine the long-term effect of alpha-ketoglutarate (AKG) administration during early neonatal life on skeletal development and function, with emphasis on bone exposed to regular stress and used to serve for systemic changes monitoring, the rib. Shropshire ram...... the groups were recorded int erms of: (1) growth rate, (2) body weight at days 14, 28 and 130 of age or (3) final body weight. The weight and length of ribs were, however, significantly increased in the lambs given AKG for the first 14 days of neonatal life by 8.2% and 3.2%, respectively (P....01). Furthermore, AKG administration induced significantly higher bone mineral density of the cortical bone by 7.1% (P

  18. Trichorhinophalangeal syndrome

    Directory of Open Access Journals (Sweden)

    Mario Vaccaro

    2017-07-01

    Full Text Available Trichorhinophalangeal syndrome (TRPS is the collective name of three rare congenital conditions characterised by craniofacial and skeletal abnormalities. The three known types of TRPS have different modalities of genetic transmission: namely, TRPS I and III are inherited as an autosomal dominant disease, while the cases of TRPS II are essentially sporadic.The diagnosis of the different types of TRPS is based on clinical and radiological findings, eventually integrated by genetic analysis, particularly useful in some cases with the non-classical clinical presentation. Alopecia and structural abnormalities of the nose and the hands should be considered as clinical hallmarks, whereas endocrine disorders, renal alterations, ureteral reflux, heart pathology and bone dysplasia have been documented, in the setting of a multisystem involvement.

  19. Effect of the Operation of Kerr and Hungry Horse Dams on the Reproductive Success of Kokanee in the Flathead System, 1987 Final Report.

    Energy Technology Data Exchange (ETDEWEB)

    Beattie, Will; Zubik, Raymond; Clancey, Patrick

    1988-05-01

    Studies of kokanee reproductive success in the Flathead system from 1981 to 1987 have assessed the losses in fish production attributable to hydroelectric operations. We estimated that the Flathead Lake shoreline spawning stock has lost at least 50,000 fish annually, since Kerr Dam was completed in 1938. The Flathead River spawning stock has lost 95,000 spawners annually because of the operations of Hungry Horse Dam. Lakeshore spawning has been adversely affected because Flathead Lake has been drafted to minimum pool during the winter when kokanee eggs are incubating in shallow shoreline redds. Egg mortality from exposure and desiccation of kokanee redds has increased since the mid 1970's. When the lake was drafted more quickly and held longer at minimum pool. Escapement surveys in the early 1950's, and a creel survey in the early 1960's have provided a baseline to which the present escapement levels can be compared, and loss estimated. Main stem Flathead River spawning has also declined since the mid 1970's when fluctuating discharge from Hungry Horse Dam during the spawning and incubation season exposed redds at the river margin and increased mortality. This decline followed an increase in main stem spawning in the late 1950's through the mid 1960's attributable to higher winter water temperature and relatively stable discharge from Hungry Horse Dam. Spawning escapement in the main stem exceeded 300,000 kokanee in the early 1970's as a result. Spawning in spring-influenced sites has comprised 35 percent of the main stem escapement from 1979 to 1986. We took that proportion of the early 1970's escapement (105,000) as the baseline against which to measure historic loss. Agricultural and suburban development has contributed less significantly to degradation of kokanee spawning habitat in the river system and on the Flathead Lake shoreline. Their influence on groundwater quality and substrate composition has limited

  20. Cushing syndrome

    Science.gov (United States)

    Hypercortisolism; Cortisol excess; Glucocorticoid excess - Cushing syndrome ... The most common cause of Cushing syndrome is taking too much ... exogenous Cushing syndrome . Prednisone, dexamethasone, and ...

  1. Serotonin syndrome

    Science.gov (United States)

    Hyperserotonemia; Serotonergic syndrome; Serotonin toxicity; SSRI - serotonin syndrome; MAO - serotonin syndrome ... two medicines that affect the body's level of serotonin are taken together at the same time. The ...

  2. [Bone transplant].

    Science.gov (United States)

    San Julián, M; Valentí, A

    2006-01-01

    We describe the methodology of the Bone and Soft Tissue Bank, from extraction and storage until use. Since the year 1986, with the creation of the Bone Bank in the University Clinic of Navarra, more than 3,000 grafts have been used for very different types of surgery. Bone grafts can be classified into cortical and spongy; the former are principally used in surgery to save tumour patients, in large post-traumatic reconstructions and in replacement surgery where there are massive bone defects and a structural support is required. The spongy grafts are the most used due to their numerous indications; they are especially useful in filling cavities that require a significant quantity of graft when the autograft is insufficient, or as a complement. They are also of special help in treating fractures when there is bone loss and in the treatment of delays in consolidation and pseudoarthrosis in little vascularized and atrophic zones. They are also used in prosthetic surgery against the presence of cavity type defects. Allografts of soft tissues are specially recognised in multiple ligament injuries that require reconstructions. Nowadays, the most utilised are those employed in surgery of the anterior cruciate ligament although they can be used for filling any ligament or tendon defect. The principal difficulties of the cortical allografts are in the consolidation of the ends with the bone itself and in tumour surgery, given that these are patients immunodepressed by the treatment, the incidence of infection is increased with respect to spongy grafts and soft tissues, which is irrelevant. In short, the increasingly widespread use of allografts is an essential therapeutic weapon in orthopaedic surgery and traumatology. It must be used by expert hands.

  3. Bone mineral content and bone metabolism in young adults with severe periodontitis

    DEFF Research Database (Denmark)

    Wowern von, N.; Westergaard, J.; Kollerup, G.

    2001-01-01

    Bone loss, bone markers, bone metabolism, bone mineral content, osteoporosis, severe periodontitis......Bone loss, bone markers, bone metabolism, bone mineral content, osteoporosis, severe periodontitis...

  4. Effect of two prophylactic bolus vitamin D dosing regimens (1000 IU/day vs. 400 IU/day) on bone mineral content in new-onset and infrequently-relapsing nephrotic syndrome: a randomised clinical trial.

    Science.gov (United States)

    Muske, Sravani; Krishnamurthy, Sriram; Kamalanathan, Sadish Kumar; Rajappa, Medha; Harichandrakumar, K T; Sivamurukan, Palanisamy

    2017-05-03

    To examine the efficacy of two vitamin D dosages (1000 vs. 400 IU/day) for osteoprotection in children with new-onset and infrequently-relapsing nephrotic syndrome (IFRNS) receiving corticosteroids. This parallel-group, open label, randomised clinical trial enrolled 92 children with new-onset nephrotic syndrome (NS) (n = 28) or IFRNS (n = 64) to receive 1000 IU/day (Group A, n = 46) or 400 IU/day (Group B, n = 46) vitamin D (administered as a single bolus initial supplemental dose) by block randomisation in a 1:1 allocation ratio. In Group A, vitamin D (cholecalciferol in a Calcirol® sachet) was administered in a single stat dose of 84,000 IU on Day 1 of steroid therapy (for new-onset NS), calculated for a period of 12 weeks@1000 IU/day) and 42,000 IU on Day 1 of steroid therapy (for IFRNS, calculated for a period of 6 weeks@1000 IU/day). In Group B, vitamin D (cholecalciferol in a Calcirol® sachet) was administered as a single stat dose of 33,600 IU on Day 1 of steroid therapy (for new-onset NS, calculated for a period of 12 weeks@400 IU/day) and 16,800 IU on Day 1 of steroid therapy (for IFRNS, calculated for a period of 6 weeks@400 IU/day). The proportionate change in bone mineral content (BMC) was analysed in both groups after vitamin D supplementation. Of the 92 children enrolled, 84 (n = 42 new onset, n = 42 IFRNS) completed the study and were included in the final analysis. Baseline characteristics including initial BMC, bone mineral density, cumulative prednisolone dosage and serum 25-hydroxycholecalciferol levels were comparable in the two groups. There was a greater median proportionate change in BMC in the children who received 1000 IU/day vitamin D (3.25%, IQR -1.2 to 12.4) than in those who received 400 IU/day vitamin D (1.2%, IQR -2.5 to 3.8, p = 0.048). The difference in proportionate change in BMC was only statistically significant in the combined new-onset and IFRNS, but not for IFRNS alone. There was a greater

  5. Bone lesion biopsy

    Science.gov (United States)

    Bone biopsy; Biopsy - bone ... needle is gently pushed and twisted into the bone. Once the sample is obtained, the needle is ... sample is sent to a lab for examination. Bone biopsy may also be done under general anesthesia ...

  6. Facts about Broken Bones

    Science.gov (United States)

    ... Room? What Happens in the Operating Room? Broken Bones KidsHealth > For Kids > Broken Bones Print A A ... sticking through the skin . What Happens When a Bone Breaks? It hurts to break a bone! It's ...

  7. Calcium and bones

    Science.gov (United States)

    Bone strength and calcium ... calcium (as well as phosphorus) to make healthy bones. Bones are the main storage site of calcium in ... your body does not absorb enough calcium, your bones can get weak or will not grow properly. ...

  8. Broken Bones (For Parents)

    Science.gov (United States)

    ... Feeding Your 1- to 2-Year-Old Broken Bones KidsHealth > For Parents > Broken Bones Print A A ... bone fragments in place. When Will a Broken Bone Heal? Fractures heal at different rates, depending upon ...

  9. Bone biopsy (image)

    Science.gov (United States)

    A bone biopsy is performed by making a small incision into the skin. A biopsy needle retrieves a sample of bone and it ... examination. The most common reasons for bone lesion biopsy are to distinguish between benign and malignant bone ...

  10. Rheumatic manifestations of primary and metastatic bone tumors and paraneoplastic bone disease.

    Science.gov (United States)

    Waimann, Christian A; Lu, Huifang; Suarez Almazor, Maria E

    2011-11-01

    Bone tumors can show a wide range of nonspecific rheumatic manifestations. The presence of unexplained or atypical chronic bone pain, an enlarging bone mass, neurovascular compression syndromes, or pathologic fractures should alert us to the possibility of a bone tumor causing these symptoms. These patients must undergo a complete physical examination; adequate imaging; and, if needed, a biopsy to confirm their diagnosis and offer them an opportune treatment. In addition, bone tumors and other malignancies can present remote clinical manifestations and unusual laboratory findings (eg, HOA, hypophosphatemia, hyperphosphaturia, and hypercalcemia) that may be the first and early manifestation of an occult cancer. These findings should motivate a cancer screening according to age, sex, and personal history. Cancer therapies also have a big impact on bone health, increasing the risk of osteoporosis, osteomalacia, and/or osteonecrosis. Rheumatologists should be aware of possible long-term adverse events of cancer treatment to avoid future complications.

  11. PIRIFORMIS SYNDROME: A REVIEW

    Directory of Open Access Journals (Sweden)

    Subhasis Ranjan

    2014-04-01

    Full Text Available Piriformis syndrome is a painful musculoskeletal condition resembling sciatica, secondary to sciatic nerve entrapment in piriformis muscle at the greater sciatic notch and responsible for 6%cases of low back pain, also called back pocket sciatica or wallet sciatica, first described in 1928 by Yeoman. It usually occurs due to abnormalities in piriformis muscle such as hypertrophy, inflammation and anatomic variations resulting in irritation and entrapment of sciatic nerve. The diagnosis of piriformis syndrome is made by clinical features, electromyography and nerve conduction velocity, computed tomography, magnetic resonance imaging and bone scan. Management of piriformis syndrome includes nonsurgical and surgical interventions. Non-surgical management includes- nonsteroidal anti-inflammatory drugs, physical therapy, ultrasound, correction of biomechanical abnormality, lifestyle modifications, local anesthetic and/or steroid injection into the piriformis muscle. Surgical management includes-surgical release of piriformis muscle and decompression of the sciatic nerve. Piriformis Syndrome- a review.

  12. Number and function of bone-marrow derived angiogenic cells and coronary flow reserve in women without obstructive coronary artery disease: a substudy of the NHLBI-sponsored Women's Ischemia Syndrome Evaluation (WISE.

    Directory of Open Access Journals (Sweden)

    Rajesh Mohandas

    Full Text Available BACKGROUND: In women with ischemia and no obstructive coronary artery disease, the Women's Ischemic Syndrome Evaluation (WISE observed that microvascular coronary dysfunction (MCD is the best independent predictor of adverse cardiovascular events. Since coronary microvascular tone is regulated in part by endothelium, we hypothesized that circulating endothelial cells (CEC, which reflect endothelial injury, and the number and function of bone-marrow derived angiogenic cells (BMDAC, which could help repair damaged endothelium, may serve as biomarkers for decreased coronary flow reserve (CFR and MCD. METHODS: We studied 32 women from the WISE cohort. CFR measurements in response to intracoronary adenosine were taken as an index of MCD. We enumerated BMDAC colonies and CEC in peripheral blood samples. BMDAC function was assessed by assay of migration of CD34+ cells toward SDF-1 and measurement of bioavailable nitric oxide (NO. These findings were compared with a healthy reference group and also entered into a multivariable model with CFR as the dependent variable. RESULTS: Compared with a healthy reference group, women with MCD had lower numbers of BMDAC colonies [16 (0, 81 vs. 24 (14, 88; P = 0.01] and NO [936 (156, 1875 vs. 1168 (668, 1823; P = 0.02]. Multivariable regression analysis showed strong correlation of CFR to the combination of BMDAC colony count and CD34+ cell function (migration and NO (R(2 = 0.45; P<0.05. CONCLUSIONS: The BMDAC function and numbers of BMDAC colonies are decreased in symptomatic women with MCD and are independently associated with CFR. These circulating cells may provide mechanistic insights into MCD in women with ischemia.

  13. Bone densitometry

    DEFF Research Database (Denmark)

    Ravn, Pernille; Alexandersen, P; Møllgaard, A

    1999-01-01

    The bisphosphonates have been introduced as alternatives to hormone replacement therapy (HRT) for the treatment and prevention of postmenopausal osteoporosis. The expected increasing application in at clinical practice demands cost-effective and easily handled methods to monitor the effect on bone...

  14. Magnetic resonance imaging of the bone marrow

    Energy Technology Data Exchange (ETDEWEB)

    Baur-Melnyk, Andrea (ed.) [Klinikum der Univ. Muenchen (Germany). Inst. fuer Klinische Radiologie

    2013-08-01

    The first book devoted to MRI of the bone marrow. Describes the MRI appearances of normal bone marrows and the full range of bone marrow disorders. Discusses the role of advanced MRI techniques and contrast enhancement. On account of its unrivalled imaging capabilities and sensitivity, magnetic resonance imaging (MRI) is considered the modality of choice for the investigation of physiologic and pathologic processes affecting the bone marrow. This book describes the MRI appearances of both the normal bone marrow, including variants, and the full range of bone marrow disorders. Detailed discussion is devoted to malignancies, including multiple myeloma, lymphoma, chronic myeloproliferative disorders, leukemia, and bone metastases. Among the other conditions covered are benign and malignant compression fractures, osteonecrosis, hemolytic anemia, Gaucher's disease, bone marrow edema syndrome, trauma, and infective and non-infective inflammatory disease. Further chapters address the role of MRI in assessing treatment response, the use of contrast media, and advanced MRI techniques. Magnetic Resonance Imaging of the Bone Marrow represents an ideal reference for both novice and experienced practitioners.

  15. Paget’s Disease of Bone Presented as Normal Pressure Hydrocephalus: A Case Report and Review of Literature

    Directory of Open Access Journals (Sweden)

    Abbas Tafakhori

    2012-07-01

    Full Text Available Background: Paget’s disease is a focal bone disorder manifested as bone overgrowth and disrupted bone integrity as a result of accelerated bone remodelling rate. Rarely, Paget’s disease of the base of the skull results in hydrocephalic dementia, and the triad of normal pressure hydrocephalus syndrome is a much more scarce entity.Case Report: Herein, we report an elderly woman who presented in Imam Khomeini Hospital, Tehran, Iran, with normal pressure hydrocephalus syndrome due to Paget’s bone disease. Furthermore, we have reviewed relevant previous studiesConclusion: Paget’s disease can be presented as normal pressure hydrocephalus syndrome

  16. Osteoclasts prefer aged bone

    DEFF Research Database (Denmark)

    Henriksen, K; Leeming, Diana Julie; Byrjalsen, I

    2007-01-01

    We investigated whether the age of the bones endogenously exerts control over the bone resorption ability of the osteoclasts, and found that osteoclasts preferentially develop and resorb bone on aged bone. These findings indicate that the bone matrix itself plays a role in targeted remodeling...... of aged bones....

  17. Lowe syndrome

    Directory of Open Access Journals (Sweden)

    Loi Mario

    2006-05-01

    Full Text Available Abstract Lowe syndrome (the oculocerebrorenal syndrome of Lowe, OCRL is a multisystem disorder characterised by anomalies affecting the eye, the nervous system and the kidney. It is a uncommon, panethnic, X-linked disease, with estimated prevalence in the general population of approximately 1 in 500,000. Bilateral cataract and severe hypotonia are present at birth. In the subsequent weeks or months, a proximal renal tubulopathy (Fanconi-type becomes evident and the ocular picture may be complicated by glaucoma and cheloids. Psychomotor retardation is evident in childhood, while behavioural problems prevail and renal complications arise in adolescence. The mutation of the gene OCRL1 localized at Xq26.1, coding for the enzyme phosphatidylinositol (4,5 bisphosphate 5 phosphatase, PtdIns (4,5P2, in the trans-Golgi network is responsible for the disease. Both enzymatic and molecular testing are available for confirmation of the diagnosis and for prenatal detection of the disease. The treatment includes: cataract extraction, glaucoma control, physical and speech therapy, use of drugs to address behavioural problems, and correction of the tubular acidosis and the bone disease with the use of bicarbonate, phosphate, potassium and water. Life span rarely exceeds 40 years.

  18. Sotos syndrome

    Directory of Open Access Journals (Sweden)

    Cormier-Daire Valérie

    2007-09-01

    Full Text Available Abstract Sotos syndrome is an overgrowth condition characterized by cardinal features including excessive growth during childhood, macrocephaly, distinctive facial gestalt and various degrees of learning difficulty, and associated with variable minor features. The exact prevalence remains unknown but hundreds of cases have been reported. The diagnosis is usually suspected after birth because of excessive height and occipitofrontal circumference (OFC, advanced bone age, neonatal complications including hypotonia and feeding difficulties, and facial gestalt. Other inconstant clinical abnormalities include scoliosis, cardiac and genitourinary anomalies, seizures and brisk deep tendon reflexes. Variable delays in cognitive and motor development are also observed. The syndrome may also be associated with an increased risk of tumors. Mutations and deletions of the NSD1 gene (located at chromosome 5q35 and coding for a histone methyltransferase implicated in transcriptional regulation are responsible for more than 75% of cases. FISH analysis, MLPA or multiplex quantitative PCR allow the detection of total/partial NSD1 deletions, and direct sequencing allows detection of NSD1 mutations. The large majority of NSD1 abnormalities occur de novo and there are very few familial cases. Although most cases are sporadic, several reports of autosomal dominant inheritance have been described. Germline mosaicism has never been reported and the recurrence risk for normal parents is very low (

  19. Gardner Syndrome

    Science.gov (United States)

    ... Home > Types of Cancer > Gardner Syndrome Request Permissions Gardner Syndrome Approved by the Cancer.Net Editorial Board , 06/2014 What is Gardner syndrome? Gardner syndrome is a subtype of familial ...

  20. Do you know this syndrome? Becker nevus syndrome.

    Science.gov (United States)

    Steiner, Denise; Silva, Fernanda Ayres de Morais e; Pessanha, André César Antiori Freire; Bialeski, Nediana; Feola, Camila; Buzzoni, Carla Arantes Bertolucci

    2011-01-01

    Becker nevus syndrome is the association of Becker's nevus with breast hypoplasia and other ipsilateral bone or muscle changes. It is considered to be a hormone-dependent disorder caused by a disturbance in the activity of the androgen receptor that appears to be increased in Becker's nevus, which may influence the development of associated lesions. We present a relevant case of this syndrome due to the rare systematization of the lesions in addition to the exuberant extracutaneous involvement in this case.

  1. 强直性脊柱炎骨密度及炎性标志物与寒、热证候的相关性研究%On the Correlation Between Bone Density and Inlfammatory Marker and Cold and Heat Syndromes in Patients with Ankylosing Spondylitis

    Institute of Scientific and Technical Information of China (English)

    许森; 马骁; 陶庆文

    2016-01-01

    目的:观察强直性脊柱炎患者骨密度、炎性标志物的变化,研究其与强直性脊柱炎寒热不同证候的相关性。方法:依照纳入标准选取146例强直性脊柱炎患者,以双光能X法检测腰椎、股骨骨密度,与31例健康体检者(健康对照组)比较。同时将全部强直性脊柱炎患者以中医辨证分为肾虚督寒组和肾虚湿热组,分别检测足骨超声硬度指数、C-反应蛋白、红细胞沉降率、免疫球蛋白G、免疫球蛋白M、免疫球蛋白A、补体C3、补体C4。分析寒热证型之间的指标差异。结果:强直性脊柱炎组与健康对照组比较,三角区、股骨粗隆、腰椎双光能X法骨密度差异有统计学意义(P 0.05)。结论:强直性脊柱炎患者骨密度明显降低,且是强直性脊柱炎患者不同寒热证候的共同特征。肾虚湿热证炎性标志物补体C3水平高于肾虚督寒证。%[ABSTRACT]Objective:To observe the changes of bone density and inlfammatory markers in patients with ankylosing spondylitis to study their correlation with cold and heat syndromes.Methods:One hundred and forty six cases of ankylosing spondylitis were selected according to the inclusion criteria.The double light energy X method was used to detect the bone density of the lumbar spine and femur,which was compared with that of 31 health examinees(the health control group).All patients with ankylosing spondylitis according to traditional Chinese medicine syndrome differentiation were divided into a Shenxu Duhan Group(a group with syndromes of kidney asthenia and cold governor meridian)and a Shenxu Shire Group(a group with syndromes of kidney asthenia and heat dampness).Both groups were detected on the aspects of foot bone ultrasound bone mineral density(BMD),C-reactive protein(CRP),red blood cell sedimentation rate,immunoglobulin G,immunoglobulin M,immunoglobulin A,and complements C3 and C4.The index differences between cold and heat

  2. Treacher Collins Syndrome

    Directory of Open Access Journals (Sweden)

    Alexander

    2010-01-01

    Full Text Available Treacher Collins syndrome is a rare autosomal dominant condition, predominantly affecting the orofacial structures. The incidence varies between 1 in 40,000 to 1 in 70,000 per live births. 40% of the cases have a hereditary factor while 60% are due to genetic mutations. The features include antimongloid slanting of the eyes, deformed or underdeveloped pinna of the ear, retrognathic mandible, microgenia, hypoplasia of the facial bones. In some patients the retrognathic mandible may cause difficulty in breathing and swallowing and may require surgical interventions. The present article describes the clinical features of Treacher Collins syndrome as seen in 3 cases.

  3. Parry-Romberg syndrome

    Science.gov (United States)

    Aydın, Hasan; Yologlu, Zeynel; Sargın, Husamettin; Metin, Melike Rusen

    2015-01-01

    Progressive hemifacial atrophy also known as Parry-Romberg syndrome is an acquired, slowly progressive disorder, occurring more in women, primarily affecting one side of the face, mainly characterized by unilateral atrophy, and loss of skin and subcutaneous tissues of face, muscles, and bones. Ocular and neurologic involvements are common. The possible etiology is unclear without any known cure. We report a rare case of Parry-Romberg syndrome with classical features. The clinical features, radiological imaging findings, differential diagnosis, and available treatment options are discussed in this report. PMID:26492117

  4. X-ray and CT findings of soft tissue and bone infections secondary to acquired immunodeficiency syndrome%艾滋病并发软组织骨骼感染的X线和CT表现

    Institute of Scientific and Technical Information of China (English)

    江松峰; 刘晋新; 陈碧华; 张烈光; 甘清鑫; 黄德扬

    2011-01-01

    Objective To summarize X-ray and CT findings of soft tissue and bone infections secondary to acquired immunodeficiency syndrome (AIDS).Methods The data of X-ray and CT findings of soft tissue and bone infections in 18 patients with AIDS were retrospectively collected and analyzed.Results Of 18 patients with AIDS,the CT features of soft tissue demonstrated that subcutaneous patchy high density in 1 case which considered as cellulitis,round low density lesions with ring enhancement in 6 cases which considered as soft tissue abscesses,heterogeneous density lesions with peripheral enhancement in 1 case which considered as pyomyositis.Of 18 patients with AIDS,septic arthritis was found in 4 cases involving knee lesion in 3 cases and hip lesion.In the 4 case,the X-ray films showed bony destruction in 2 cases and the CT showed bone destruction in 3 cases and arthroedema in 4 cases.Of 18 patients with AIDS,osteomyelitis was found in 9 cases of which tuberculosis was considered in 8 cases and vertebral involvement in 6 cases.In the 9 cases,the X-ray films and CT displayed bony destruction,hyperostosis,small sequestra,and intervertebral space narrowing.Of 18 patients with AIDS,costal lesions were found in 3 cases in which the CT showed expandable bony destruction.Of 18 patients with AIDS,ilium and cacroihac joint lesions were found in 1 case in which the X-ray films and CT showed bony destruction,sequestra,and joint widening.Of 18 patients with AIDS,chronic pyogenic osteomyelitis of femur was found in 1 case in which the X-ray films showed bony destruction,hyperostosis osteosclerosis,and periosteal reaction.Conclusion The X-ray and CT features of soft tissue and bone infections secondary to AIDS are characterized.The X-ray and CT are useful tools to early diagnose soft tissue and bone infections secondary to AIDS.%目的 探讨艾滋病(AIDS)并发软组织骨骼感染的X线和CT表现.方法 回顾性分析18例AIDS并发软组织骨骼感染的X线和CT表现.结果 18

  5. Mastoid abnormalities in Down syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Glass, R.B.J.; Yousefzadeh, D.K.; Roizen, N.J.

    1989-06-01

    Hearing loss and otitis media are commonly associated with Down syndrome. Hypoplasia of the mastoids is seen in many affected children and sclerosis of mastoid bones is not uncommon in Down syndrome. Awareness and early recognition of mastoid abnormality may lead to appropriate and timely therapy, thereby preserving the child's hearing or compensating for hearing loss; factors which are important for learning and maximum development.

  6. The Marfan Syndrome [and] Fact Sheet.

    Science.gov (United States)

    Pyeritz, Reed E.; Conant, Julia

    This introduction to the Marfan syndrome, a heritable disorder of connective tissue primarily affecting the bones and ligaments, eyes, cardiovascular system, and lungs, is intended for a general audience. The question-and-answer format was chosen by individuals with the syndrome to reflect their major questions and concerns. It incorporates the…

  7. Questions and Answers about Marfan Syndrome

    Science.gov (United States)

    ... very tall, slender, and loose-jointed. Because Marfan syndrome affects the long bones of the skeleton, a person's arms, legs, fingers, and toes may be disproportionately long in relation to the rest of the body. A person with Marfan syndrome ...

  8. Hutchinson-Gilford progeria syndrome: a rare case report

    Directory of Open Access Journals (Sweden)

    Kalegowda Deepadarshan

    2016-04-01

    Full Text Available Progeroid syndromes are characterised by clinical features of physiological aging at an early age. Hutchinson-Gilford progeria syndrome is a type of progeroid syndrome, characterised by abnormal facies, bone abnormalities, sclerodermatous skin changes and retarded physical development. Average life expectancy of progeria patients is 13 years. Herein we are reporting a case of progeria who is 21 years old.

  9. Divergent effects of obesity on bone health

    Science.gov (United States)

    Gower, Barbara A; Casazza, Krista

    2017-01-01

    Historically, obesity was thought to be advantageous for maintaining healthy bones due to the greater BMD observed in overweight individuals. However, recent observations of increased fracture in some obese individuals has led to concern that common metabolic complications of obesity, such as type 2 diabetes, metabolic syndrome, impaired glucose tolerance, insulin resistance, hyperglycemia, and inflammation may be associated with poor bone health. In support of this hypothesis, greater visceral fat, a hallmark of insulin resistance and metabolic syndrome, is associated with lower BMD. Research is needed to determine if and how visceral fat and/or poor metabolic health are causally associated with bone health. Clinicians should consider adding a marker metabolic health, such as waist circumference or fasting plasma glucose concentration, to other known risk factors for osteoporosis and fracture. PMID:24063845

  10. Osteoporotic fractures: a brain or bone disease?

    Science.gov (United States)

    Birge, Stanley J

    2008-06-01

    Osteoporosis is a skeletal disorder that predisposes individuals to increased risk of fracture. However, most osteoporotic fractures occur in women who do not meet criteria for osteoporosis. Hence, bone density, by itself, is a relatively poor predictor of fracture. Age and age-related factors are now recognized as increasingly important in determining fracture risk. Osteoporotic fractures are associated with increased disability and mortality, suggesting that osteoporosis may be a clinical manifestation of an underlying disease process affecting multiple systems. The systems affected, the musculo-skeletal system and the central nervous system, are shared in many respects with the frailty syndrome. Vitamin D deficiency is a major contributor to the frailty syndrome, osteoporosis, and osteoporotic fractures. Its effects are mediated by the development of cerebrovascular disease, postural instability, muscle weakness, and bone fragility. Thus, osteoporotic fractures result from both a bone and brain disease.

  11. Treacher Collins syndrome

    Directory of Open Access Journals (Sweden)

    Prachi Shete

    2011-01-01

    Full Text Available Treacher Collins syndrome (TCS is a rare autosomal dominant disorder of craniofacial development. It is a congenital malformation of first and second branchial arch which may affect the size and shape of the ears, eyelids, cheek bones, and jaws. The extent of facial deformity varies from one affected individual to another. A case of 20-year-old boy having TCS is briefly described in this article.

  12. Impacts of Water Level Fluctuations on Kokanee Reproduction in Flathead Lake; Effects of Operation of Kerr and Hungry Horse Dam on Reproductive Success, 1983 Annual Report.

    Energy Technology Data Exchange (ETDEWEB)

    Decker-Hess, Janet; McMullin, Steve L.

    1983-11-01

    Domrose (1968) found live eggs and fry only in shoreline spawning areas wetted by groundwater seeps. Impacts of the operation of Kerr Dam on lakeshore spawning have not been quantified. Recent studies have revealed that operation of Hungry Horse Dam severely impacted successful kokanee spawning and incubation in the Flathead River above Flathead Lake (Graham et al. 1980, McMullin and Graham 1981, Fraley and Graham 1982 and Fraley and McMullin 1983). Flows from Hungry Horse Dam to enhance kokanee reproduction in the river system have been voluntarily met by the Bureau of Reclamation since 1981. In lakeshore spawning areas in other Pacific Northwest systems, spawning habitat for kokanee and sockeye salmon was characterized by seepage or groundwater flow where suitable substrate composition existed (Foerster 1968). Spawning primarily occurred in shallower depths (<6 m) where gravels were cleaned by wave action (Hassemer and Rieman 1979 and 1980, Stober et al. 1979a). Seasonal drawdown of reservoirs can adversely affect survival of incubating kokanee eggs and fry spawned in shallow shoreline areas. Jeppon (1955 and 1960) and Whitt (1957) estimated 10-75 percent kokanee egg loss in shoreline areas of Pend Oreille Lake, Idaho after regulation of the upper three meters occurred in 1952. After 20 years of operation, Bowler (1979) found Pend Oreille shoreline spawning to occur in fewer areas with generally lower numbers of adults. In studies on Priest Lake, Idaho, Bjornn (1957) attributed frozen eggs and stranded fry to winter fluctuations of the upper three meters of the lake. Eggs and fry frozen during winter drawdown accounted for a 90 percent loss to shoreline spawning kokanee in Donner Lake, California (Kimsey 1951). Stober et al. (1979a) determined irrigation drawdown of Banks Lake, Washington reduced shoreline survival during five of the seven years the system was studied. The goal of this phase of the study was to evaluate and document effects of the operation of Kerr Dam

  13. Fibrous dysplasia of bone: craniofacial and dental implications.

    Science.gov (United States)

    Burke, A B; Collins, M T; Boyce, A M

    2016-08-05

    Fibrous dysplasia (FD) is a rare bone disease caused by postzygotic somatic activating mutations in the GNAS gene, which lead to constitutive activation of adenylyl cyclase and elevated levels of cyclic AMP, which act on downstream signaling pathways and cause normal bone to be replaced with fibrous tissue and abnormal (woven) bone. The bone disease may occur in one bone (monostotic), multiple bones (polyostotic), or in combination with hyperfunctioning endocrinopathies and hyperpigmented skin lesions (in the setting of McCune-Albright Syndrome). FD is common in the craniofacial skeleton, causing significant dysmorphic features, bone pain, and dental anomalies. This review summarizes the pathophysiology, clinical findings, and treatment of FD, with an emphasis on the craniofacial and oral manifestations of the disease.

  14. TAR syndrome with orofacial clefting.

    Science.gov (United States)

    Midro, A; Hubert, E; Preferansow, J; Iwaszkiewicz-Pawłowska, A

    1993-01-01

    A case of TAR syndrome with bilateral cleft lip and palate is presented. Bilateral symmetric focomelia, normal thumbs among five fingers of hands, synostosis of IVth and Vth metacarpal bones and some defects of lower limbs with associated thrombocytopenia were noted. Dysmorphic facial features included hypertelorism, epicanthus, blue sclerae, broad nasal root, micrognathia, low-set ears, sparse blond hair. To our knowledge this patient represents an unusual association of TAR syndrome with orofacial clefting. A common background of TAR and Roberts/SC syndrome is suggested.

  15. Dating of cremated bones

    NARCIS (Netherlands)

    Lanting, JN; Aerts-Bijma, AT; van der Plicht, J; Boaretto, E.; Carmi, I.

    2001-01-01

    When dating unburnt bone, bone collagen, the organic fraction of the bone, is used. Collagen does not survive the heat of the cremation pyre, so dating of cremated bone has been considered impossible. Structural carbonate in the mineral fraction of the bone, however, survives the cremation process.

  16. Lessons from rare diseases of cartilage and bone.

    Science.gov (United States)

    Gallagher, James A; Ranganath, Lakshminarayan R; Boyde, Alan

    2015-06-01

    Studying severe phenotypes of rare syndromes can elucidate disease mechanisms of more common disorders and identify potential therapeutic targets. Lessons from rare bone diseases contributed to the development of the most successful class of bone active agents, the bisphosphonates. More recent research on rare bone diseases has helped elucidate key pathways and identify new targets in bone resorption and bone formation including cathepsin K and sclerostin, for which drugs are now in clinical trials. By contrast, there has been much less focus on rare cartilage diseases and osteoarthritis (OA) remains a common disease with no effective therapy. Investigation of rare cartilage syndromes is identifying new potential targets in OA including GDF5 and lubricin. Research on the arthropathy of the ultra-rare disease alkaptonuria has identified several new features of the OA phenotype, including high density mineralized protrusions (HDMPs) which constitute a newly identified mechanism of joint destruction.

  17. THAT LEAN AND HUNGRY LOOK

    Institute of Scientific and Technical Information of China (English)

    Suzanne Britt Jordan

    2002-01-01

    @@ Caesar was right. Thin people need watching. I' ve been watching them for most of my adult life, and I don't like what I see. When these narrow fellows spring at me, I quiver to my toes. Thin people come in all personalities, most of them menacing. You' ye got your "together" thin person, your mechanical thin person, your condescending thin person, your tsk-tsk thin person, your effficiency-expert thin person. All of them are dangerous.

  18. Hungry Kids: The Solvable Crisis

    Science.gov (United States)

    Felling, Christy

    2013-01-01

    The numbers speak for themselves in terms of the crisis of hunger among kids in the United States: More than 16 million children--one in five--live in households that struggle to put food on the table. Nearly half of all food stamp recipients are children. But, argues Felling, the battle against childhood hunger can be won; the United States has…

  19. Hungry China Shops in Argentina

    Institute of Scientific and Technical Information of China (English)

    2011-01-01

    @@ Chinese investment is flooding into Argentina as the Asian giant expands its global commodity hunt from the raw materials used in industry to the foodstuffs needed to feed its 1.3 billion citizens. China's investment in Latin America hit USI15.6 billion during the 12-month period through the end of May, nearly three times greater than the year-ago period, consulting firm Deloitte said in a report.Of that amount, Brazil received about 60% and Argentina close to 40%.

  20. Hungry Tiger Eager To Grow

    Science.gov (United States)

    2015-06-01

    weapon to deter an unfriendly power—specifically China. John F. Lehman suggests that “deterrence and war-fighting” are two of the main purposes of the...Jervis’s deterrence model states, “great dangers arise if an 112 John F. Lehman , Aircraft Carriers...December 2010). Lapierre, Dominique, and Larry Collins. Freedom at Midnight. New Delhi: Vikas, 1997. Lehman , John F. Aircraft Carriers: The Real Choices

  1. Musculoskeletal Complications and Bone Metastases in Breast Cancer Patients Undergoing Estrogen Deprivation Therapy

    Science.gov (United States)

    2015-10-01

    was calibrated with a plastic-embedded mouse phantom before use. Mice were anesthetized and placed on an adhesive tray in a prone position with limbs ...Bellido TM, Bateman TA, Mendonca MS, Mohammad KS, Guise TA. Single- limb irradiation induces local and systemic bone loss in a murine model. J Bone Miner...subsequent bone destruction often result in severe bone pain, fragility fractures, nerve compression syndromes , and hypercalcemia of malignancy resulting

  2. [Nail-patella-elbow syndrome].

    Science.gov (United States)

    Uruñuela, J; Ybarra, J; Escudero, R

    1976-01-01

    The authors describe a typical, non familiar case of nail-patela-elbow syndrome, in which was found malformation of the nails and bones involving mainly the Knees and elbows, together with spondylolisthesis of the spine at the level L5-S1. There were no renal, ocular or psychic alterations.

  3. Smoking and Bone Health

    Science.gov (United States)

    ... supported by your browser. Home Bone Basics Lifestyle Smoking and Bone Health Publication available in: PDF (85 ... late to adopt new habits for healthy bones. Smoking and Osteoporosis Cigarette smoking was first identified as ...

  4. Anorexia nervosa and bone

    National Research Council Canada - National Science Library

    Misra, Madhusmita; Klibanski, Anne

    2014-01-01

    Anorexia nervosa (AN) is a condition of severe low weight that is associated with low bone mass, impaired bone structure, and reduced bone strength, all of which contribute to increased fracture risk...

  5. Menopause and Bone Loss

    Science.gov (United States)

    Fact Sheet & Menopause Bone Loss How are bone loss and menopause related? Throughout life your body keeps a balance between the ... lose bone faster than it can be replaced. Menopause—the time when menstrual periods end, which usually ...

  6. Hypereosinophilic syndromes

    Directory of Open Access Journals (Sweden)

    Giuseppe Civardi

    2013-04-01

    Full Text Available Background: The last few years have seen a complete change in the etiopathogenetic features, classification and therapeutic approach of the hypereosinophilic syndrome (HES, a multiorgan targeted blood disease. The discovery of a genetic mutation and the occurrence of a new fusion gene, named FIP1L1-PDGFRA (FIP gene, in some patients allowed the identification of a new myeloproliferative disorder, M-HES: thereafter, the pivotal therapeutic role of the tyrosine kinase inhibitors, particularly, imatinib mesylate, was clearly detected. In the same period a new pathogenetic mechanism has been detected: some authors described the presence of a CD3-CD4 +Tcell clone correlating with the overproduction of IL5, a potent eosinophilic cell line stimulating cytokine. As a consequence an international consensus committee proposed a new classification for these syndromes, in accordance with these new pathogenetic features. The disease is characterized by an extensive tissue and organ damage due to an eosinophilic cell infiltration and leading to the release of toxic cytokines and subsequent organ dysfunction. The heart, lungs, gastrointestinal apparatus, skin and central nervous system are affected. Moreover the released cytokines can induce a thrombophilic status and thromboembolic events can occur throughout the body. Aim of the study: We describe the diagnostic procedures that are necessary in order to obtain a correct diagnosis and classification of the disease and to evaluate the presence of an organ and tissue damage. In particular, bone marrow biopsy and cytogenetic examination of blood and marrow are necessary for detecting M-HES cases that are positive for the FIP gene. In these patients, imatinib mesylate has a leading role for obtaining complete remission of the disease in a high percentage of cases. We also examine the therapeutic options for the other forms of the disease: prednisone, interferon, hydroxiurea are effective therapeutic tools in

  7. Incomplete McCune-Albright Syndrome: A Case Report

    Directory of Open Access Journals (Sweden)

    Nagehan Aslan

    2014-08-01

    Full Text Available Fibrous dysplasia of bone is a genetic, non-inheritable disease that can cause bone pain, bone deformities and fracture. It has a large clinic spectrum from benign monostotic fibrous dysplasia to McCune-Albright syndrome. Rare McCune-Albright syndrome is characterized by precocious puberty, cafe au lait spots and fibrous dysplasia. Herein we presented a case who was preferred to hospital with pathological fractures and diagnosed with Incomplet McCune Albright syndrome because of the lack of endocrine hyperfunction and developed early puberty at clinical course.

  8. Biochemical abnormalities in Pearson syndrome.

    Science.gov (United States)

    Crippa, Beatrice Letizia; Leon, Eyby; Calhoun, Amy; Lowichik, Amy; Pasquali, Marzia; Longo, Nicola

    2015-03-01

    Pearson marrow-pancreas syndrome is a multisystem mitochondrial disorder characterized by bone marrow failure and pancreatic insufficiency. Children who survive the severe bone marrow dysfunction in childhood develop Kearns-Sayre syndrome later in life. Here we report on four new cases with this condition and define their biochemical abnormalities. Three out of four patients presented with failure to thrive, with most of them having normal development and head size. All patients had evidence of bone marrow involvement that spontaneously improved in three out of four patients. Unique findings in our patients were acute pancreatitis (one out of four), renal Fanconi syndrome (present in all patients, but symptomatic only in one), and an unusual organic aciduria with 3-hydroxyisobutyric aciduria in one patient. Biochemical analysis indicated low levels of plasma citrulline and arginine, despite low-normal ammonia levels. Regression analysis indicated a significant correlation between each intermediate of the urea cycle and the next, except between ornithine and citrulline. This suggested that the reaction catalyzed by ornithine transcarbamylase (that converts ornithine to citrulline) might not be very efficient in patients with Pearson syndrome. In view of low-normal ammonia levels, we hypothesize that ammonia and carbamylphosphate could be diverted from the urea cycle to the synthesis of nucleotides in patients with Pearson syndrome and possibly other mitochondrial disorders.

  9. Metabolic Syndrome

    Science.gov (United States)

    ... hypertension, hypertriglyceridemia, insulin resistance syndrome, low HDL cholesterol, Metabolic Syndrome, overweight, syndrome x, type 2 diabetes Family Health, Kids and Teens, Men, Women January 2005 Copyright © American Academy of Family PhysiciansThis ...

  10. Williams syndrome

    Science.gov (United States)

    Williams-Beuren syndrome ... Williams syndrome is caused by not having a copy of several genes. Parents may not have any family history of the condition. However, people with Williams syndrome have a 50% chance of passing the ...

  11. Fahr's Syndrome

    Science.gov (United States)

    ... Page You are here Home » Disorders » All Disorders Fahr's Syndrome Information Page Fahr's Syndrome Information Page What research is being done? ... and conducts research on neurogenetic disorders such as Fahr's Syndrome. The goals of this research are to ...

  12. Consequences of long-term hyperparathyroidism.

    Science.gov (United States)

    Graal, M B; Wolffenbuttel, B H

    1998-07-01

    We describe a young woman with long-term untreated hyperparathyroidism with a superimposed vitamin D deficiency and an extremely decreased bone mineral density that was complicated by a vertebral fracture. Despite pretreatment with intravenous pamidronate and short-term vitamin D supplementation, severe and long-standing hypocalcaemia ('hungry bone syndrome') developed after parathyroidectomy. We discuss the consequences of hyperparathyroidism, especially the effects on bone, the complications of parathyroidectomy and the possibilities of preoperative treatment with bisphosphonates.

  13. Acute radiation syndrome and chronic radiation syndrome.

    Science.gov (United States)

    Grammaticos, Philip; Giannoula, Evanthia; Fountos, George P

    2013-01-01

    Acute radiation syndrome (ARS) or sickness or poisoning or toxicity is induced after a whole body exposure of men to high doses of radiation between 1-12Gy. First symptoms are from the gastrointestinal system, which together with bone marrow are the most sensitive parts of our body. Chronic radiation syndrome (CRS) may be induced by smaller than 1Gy radiation doses or after a mild form of ARS. Prophylaxis and treatment suggestions are described. In cases of ARS, a large part of the exposed population after proper medical care may survive, while without medical care this part of the population will be lost. Prophylaxis may also save another part of the population.

  14. Bone Marrow Involvement in Systemic Lupus Erythematosus.

    Science.gov (United States)

    Chalayer, Emilie; Costedoat-Chalumeau, Nathalie; Beyne-Rauzy, Odile; Ninet, Jacques; Durupt, Stephane; Tebib, Jacques; Asli, Bouchra; Lambotte, Olivier; Ffrench, Martine; Vasselon, Christian; Cathébras, Pascal

    2017-05-19

    Besides peripheral cytopenias, bone marrow abnormalities, such as fibrosis, pure red cell aplasia, and aplastic anemia have been reported in patients with systemic lupus erythematosus (SLE), suggesting that bone marrow may be a target organ in SLE. Our objective was to describe this bone marrow involvement. This registry is a nationwide retrospective study. Centers provided data concerning medical history, SLE manifestations, type of hematologic disorder, treatments and outcome. Bone marrow aspirations and/or biopsies were transferred for centralized review. Thirty patients from 19 centers were included. Central hematologic manifestations comprised bone marrow fibrosis (n=17; 57%), pure red cell aplasia (n=8; 27%), myelodysplastic syndrome (n=3; 10%), aplastic anemia and agranulocytosis (n=1; 3% each). Bone marrow involvement was diagnosed concomitantly with SLE in 12 patients. Bone marrow biopsies showed fibrosis in 19 cases, including one case of pure red cell aplasia and one case of agranulocytosis and variable global marrow cellularity. Treatments included corticosteroids (90%), hydroxychloroquine (87%), rituximab (33%), intravenous immunoglobulins (30%), mycophenolate mofetil (20%) and ciclosporine (20%). After a median follow-up of 27 months (range: 1-142), 24 patients manifested complete improvement. No patient died. This registry comprises the largest series of SLE patients with bone marrow involvement. It demonstrates the strong link between SLE and bone marrow fibrosis. Patients with atypical or refractory cytopenia associated with SLE should undergo bone marrow examination to enable appropriate, and often effective, treatment. Long-term prognosis is good. © The Author 2017. Published by Oxford University Press on behalf of the Association of Physicians. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

  15. McCune-Albright syndrome

    Directory of Open Access Journals (Sweden)

    Juraj Payer

    2011-06-01

    Full Text Available McCune-Albright syndrome (MAS is a very rare disease characterizedby the triad of bone defects, skin hyperpigmentation, andvarious types of endocrine and non-endocrine manifestations. Itfalls into the category of sporadic genetic disorders and its exactincidence is unknown. In its more severe forms, the disease manifestsitself already in early childhood and can gradually affectmore and more organs throughout life. The extent and degree ofinvolvement of affected tissues are heterogeneous due to themosaicism of the genetic mutation. The disease is the subject ofextensive research and new pathogenetic mechanisms are beingelucidated, leading to new diagnostic and therapeutic choices. Inaddition, the authors present a case report of an adult femalepatient with McCune-Albright syndrome. The clinical picture isdominated by bone involvement, thyroid hyperfunction and persistenthyperestrogenism. The case report underlines the fact thatmanagement of patients with McCune-Albright syndrome continuesto be a challenge.

  16. Iodine I 131 Monoclonal Antibody BC8, Fludarabine Phosphate, Cyclophosphamide, Total-Body Irradiation and Donor Bone Marrow Transplant in Treating Patients With Advanced Acute Myeloid Leukemia, Acute Lymphoblastic Leukemia, or High-Risk Myelodysplastic Syndrome

    Science.gov (United States)

    2016-07-18

    Acute Myeloid Leukemia Arising From Previous Myelodysplastic Syndrome; Adult Acute Lymphoblastic Leukemia in Remission; Adult Acute Myeloid Leukemia in Remission; Chronic Myelomonocytic Leukemia; Previously Treated Myelodysplastic Syndrome; Refractory Anemia With Excess Blasts; Refractory Anemia With Ring Sideroblasts; Refractory Cytopenia With Multilineage Dysplasia; Refractory Cytopenia With Multilineage Dysplasia and Ring Sideroblasts

  17. Interactions between muscle tissues and bone metabolism.

    Science.gov (United States)

    Kawao, Naoyuki; Kaji, Hiroshi

    2015-05-01

    Sarcopenia and osteoporosis have recently been noted for their relationship with locomotive syndrome and increased number of older people. Sarcopenia is defined by decreased muscle mass and impaired muscle function, which may be associated with frailty. Several clinical data have indicated that increased muscle mass is related to increased bone mass and reduced fracture risk. Genetic, endocrine and mechanical factors as well as inflammatory and nutritional states concurrently affect muscle tissues and bone metabolism. Several genes, including myostatin and α-actinin 3, have been shown in a genome-wide association study (GWAS) to be associated with both sarcopenia and osteoporosis. Vitamin D, growth hormone and testosterone as well as pathological disorders, such as an excess in glucocorticoid and diabetes, affect both muscle and bone. Basic and clinical research of bone metabolism and muscle biology suggests that bone interacts with skeletal muscle via signaling from local and humoral factors in addition to their musculoskeletal function. However, the physiological and pathological mechanisms related to muscle and bone interactions remain unclear. We found that Tmem119 may play a critical role in the commitment of myoprogenitor cells to the osteoblast lineage. We also reported that osteoglycin and FAM5C might be muscle-derived humoral osteogenic factors. Other factors, including myostatin, osteonectin, insulin-like growth factor I, irisin and osteocalcin, may be associated with the interactions between muscle tissues and bone metabolism. © 2014 Wiley Periodicals, Inc.

  18. Rare case of nephrotic syndrome: Schimke syndrome.

    Science.gov (United States)

    Pedrosa, Anna Kelly Krislane de Vasconcelos; Torres, Luiz Fernando Oliveira; Silva, Ana Corina Brainer Amorim da; Dantas, Adrianna Barros Leal; Zuntini, Káthia Liliane da Cunha Ribeiro; Aguiar, Lia Cordeiro Bastos

    2016-01-01

    Schimke syndrome corresponds to dysplasia of bone and immunity, associated with progressive renal disease secondary to nephrotic syndrome cortico-resistant, with possible other abnormalities such as hypothyroidism and blond marrow aplasia. It is a rare genetic disorder, with few reports in the literature. The most frequent renal involvement is nephrotic syndrome with focal segmental glomerulosclerosis and progressive renal failure. The objective of this study was to report a case of Schimke syndrome, diagnostic investigation and management of the case. Resumo A síndrome Schimke corresponde à displasia imuno-óssea, associada à doença renal progressiva secundária à síndrome nefrótica córtico-resistente, podendo haver outras anormalidades como hipotireoidismo e aplasia de medula óssea. Trata-se de uma patologia genética rara, com poucos relatos na literatura. O acometimento renal mais frequente é uma síndrome nefrótica por glomeruloesclerose segmentar e focal e falência renal progressiva. O objetivo deste estudo foi relatar um caso de síndrome de Schimke, investigação diagnóstica e condução do caso.

  19. Blood and Bone Marrow Evaluation for Eosinophilia.

    Science.gov (United States)

    Boyer, Daniel F

    2016-10-01

    Evaluation of peripheral blood and bone marrow for an indication of persistent eosinophilia can be a challenging task because there are many causes of eosinophilia and the morphologic differences between reactive and neoplastic causes are often subtle or lack specificity. The purpose of this review is to provide an overview of the differential diagnosis for eosinophilia, to recommend specific steps for the pathologist evaluating blood and bone marrow, and to emphasize 2 important causes of eosinophilia that require specific ancillary tests for diagnosis: myeloproliferative neoplasm with PDGFRA rearrangement and lymphocyte-variant hypereosinophilic syndrome.

  20. DOWN SYNDROME WITH MOYAMOYA SYNDROME

    National Research Council Canada - National Science Library

    Mohan Makwana; R. K. Vishnoi; Jai Prakash Soni; Kapil Jetha; Suresh Kumar Verma; Pradeep Singh Rathore; Monika Choudhary

    2017-01-01

    ...,” in which the arterial changes are seen among patients with various syndromes or other disease processes- Down syndrome, sickle cell anaemia, neurofibromatosis type-1, congenital heart disease...

  1. An atypical monomelic presentation of Mazabraud syndrome

    Directory of Open Access Journals (Sweden)

    Jun Wan

    2014-01-01

    Full Text Available Mazabraud syndrome is a rare condition characterized by a combination of fibrous dysplasia and intramuscular myxomas. In Mazabraud syndrome, the distribution of fibrous dysplasia is mostly polyomelic and frequently located in the femur, with myxomas adjacent to the fibrous dysplasia lesion of bone (mostly in the quadriceps muscle. However, when presented as atypical clinical features, patients of Mazabraud syndrome is either misdiagnosed or difficult to diagnose. We report an atypical monomelic case of Mazabraud syndrome in the right upper arm and discuss the difficulties in making an accurate diagnosis.

  2. A new case of MOMO syndrome.

    Science.gov (United States)

    Wallerstein, Robert; Sugalski, Rachel D

    2010-01-01

    MOMO syndrome, a condition described in three earlier patients, is a constellation of macrosomia, obesity, macrocephaly, and ocular abnormalities as the main findings. We report a 6-year-old child with these findings as well as significant developmental issues, delayed bone age, clavicular pseudoarthrosis, and straight femurs. We believe that this child should be considered as having MOMO syndrome. Careful consideration of his facial features shows some overlap with Kabuki syndrome. Description of this case may help to better elucidate the clinical features of MOMO syndrome.

  3. Baller-Gerold syndrome associated with dextrocardia.

    Science.gov (United States)

    Ceylan, A; Peker, E; Dogan, M; Tuncer, O; Kirimi, E

    2011-01-01

    Baller-Gerold Syndrome (BGS) is a rare autosomal recessive disorder that is apparent at birth. The disorder is characterized by distinctive malformations of the skull and facial area and bones of the forearms and hands. We report a 4 year old boy in whom the clinical features of craniosynostosis and bilateral absent thumbs and radii led to a diagnosis of Baller-Gerold syndrome. Physical examination revealed that the heart was localized to the right side. Echocardiography confirmed dextrocardia. Dextrocardia has not previously been reported with Baller-Gerold syndrome. To the best of our knowledge, this is the first reported case of Baller-Gerold syndrome associated with dextrocardia.

  4. Bone grafting: An overview

    Directory of Open Access Journals (Sweden)

    D. O. Joshi

    2010-08-01

    Full Text Available Bone grafting is the process by which bone is transferred from a source (donor to site (recipient. Due to trauma from accidents by speedy vehicles, falling down from height or gunshot injury particularly in human being, acquired or developmental diseases like rickets, congenital defects like abnormal bone development, wearing out because of age and overuse; lead to bone loss and to replace the loss we need the bone grafting. Osteogenesis, osteoinduction, osteoconduction, mechanical supports are the four basic mechanisms of bone graft. Bone graft can be harvested from the iliac crest, proximal tibia, proximal humerus, proximal femur, ribs and sternum. An ideal bone graft material is biologically inert, source of osteogenic, act as a mechanical support, readily available, easily adaptable in terms of size, shape, length and replaced by the host bone. Except blood, bone is grafted with greater frequency. Bone graft indicated for variety of orthopedic abnormalities, comminuted fractures, delayed unions, non-unions, arthrodesis and osteomyelitis. Bone graft can be harvested from the iliac crest, proximal tibia, proximal humerus, proximal femur, ribs and sternum. By adopting different procedure of graft preservation its antigenicity can be minimized. The concept of bone banking for obtaining bone grafts and implants is very useful for clinical application. Absolute stability require for successful incorporation. Ideal bone graft must possess osteogenic, osteoinductive and osteocon-ductive properties. Cancellous bone graft is superior to cortical bone graft. Usually autologous cancellous bone graft are used as fresh grafts where as allografts are employed as an alloimplant. None of the available type of bone grafts possesses all these properties therefore, a single type of graft cannot be recomm-ended for all types of orthopedic abnormalities. Bone grafts and implants can be selected as per clinical problems, the equipments available and preference of

  5. 10例获得性骨髓衰竭综合征患者端粒长度的检测%Telomere length measurement of 10 Chinese patients with bone marrow failure syndrome

    Institute of Scientific and Technical Information of China (English)

    刘博; 韩冰; 汪玄; 崔巍; 林洁; 赵永强

    2009-01-01

    Objective To measure telomere length of patients with bone marrow failure syndrome (BMFS) and explore the relationship between telomerase gene mutation and telomere shortening.Methods Blood samples from 10 patients with AA,MDS-RA were collected and performed TERC and TERT gene mutation analysis.Telomero length was measured by Southern blot and compared with normal controls and two patients with MDS-RAEB and AML each.Results Two patients in the 10 BMFS patients had TERC and TERT gene mutations and very short telomeres compared with normal controls and with the 8 BMFS counterparts,the telomere length was less than 50% of that of normal control,and was similar to that of patients with MDSRAEB and acute myelogenous leukemia,indicating the possibility of malignant transformation.Some BMFS patients with no mutations also had short telomeres.Conclusions BMFS patients with telomerase gene mutation have very short telomeres,being similar to that of hematological malignancies.Some BMFS patients with no telomerase gene mutations also have short telomere length.%目的 探讨端粒酶基因突变与端粒长度变化间的关系.方法 收集来自北京协和医院、河北廊坊市中医院诊断明确的10例骨髓衰竭综合征患者外周血标本,提取有核细胞DNA,筛查TERC基因及TERT基冈的突变,Southern blot法测定患者端粒长度,并与2例血液系统恶性疾病患者及45名同龄健康对照者的端粒长度进行比较.结果 经基凶突变筛查,10例患者中2例携带端粒酶基因突变患者(其中1例为重型再生障碍性贫血,1例最终证实为先天性角化不良)端粒长度严重缩短,小于同龄正常对照长度的50%,与部分恶性血液病如骨髓增生异常综合征伴原始细胞增多(MDSRAEB Ⅱ)患者的端粒长度重叠,提示有恶性转化的可能.部分无突变的骨髓衰竭综合征患者端粒也有缩短,只有同龄正常对照长度的50%~80%,但缩短程度不及有突变者.结论 端粒酶基因

  6. The relationship between calcaneus bone mineral density and metabolic syndrome%定量超声检测的跟骨骨密度与代谢综合征的关系

    Institute of Scientific and Technical Information of China (English)

    孙启虹; 巴建明; 陈康; 闫文华; 王先令; 谷伟军; 汪保安; 王健松; 王淑梅

    2014-01-01

    目的 探索定量超声检测跟骨骨密度(BMD)与代谢综合征(MS)及其各组分之间的关系.方法 横断面研究,对象为北京某社区常住居民.按性别、绝经与否分组,每组再分为MS和非MS组,分析MS对BMD的影响.MS采用中华医学会糖尿病学分会制定的诊断标准.结果 5 552例受试者纳入分析.男女比例1:1.8,年龄40~87岁,其中,男1 987例,年龄(59.4±7.3)岁;女3 565例,年龄(56.9±7.2)岁,绝经前后女性比例1:3.7.MS患病率:男29.0%,女24.4%.协方差分析显示,MS组与非MS组BMD差异无统计学意义.但是随着MS组分数目由0个增加至4个,绝经后女性BMD有增加的趋势,协方差分析显示,BMD的增加有统计学意义(P<0.05).多元线性回归分析提示绝经后女性MS组的BMD与年龄呈负相关(β=-0.034,P<0.001)、与BMI(β=0.046,P=0.001)、收缩压(β =0.007,P=0.039)、TG(β=0.066,P=0.034)呈正相关.结论 随着MS组分数目的增加,绝经后女性BMD有增加的趋势,BMD与BMI、收缩压、TG呈正相关.%Objective To evaluate the association between calcaneus bone mineral density (BMD) and metabolic syndrome (MS).Methods A cross-sectional study was carried out in 5 552 subjects with 1 987 men and 3 565 women (age:40-87 years old).MS was defined according to Chinese Diabetes Society criteria.BMD was assessed by quantitative ultrasound.Results The proportion of MS was 29.0% in male and 24.4% in female.There were no differences in BMD between MS and non-MS subjects in both genders.Linear trend analysis displayed that BMD was positively associated with the increase of MS components in post-menopausal women after adjustment of age,ALT,creatinine and exercises (P < 0.05).Moreover,multiple regression analysis showed that BMD was inversely correlated with age (β =-0.034,P < 0.001) and positively correlated with BMI(β =0.046,P =0.001),TG (β =0.066,P =0.034) and systolic blood pressure(SBP) (β =0.007,P =0.039) in post-menopausal women with MS

  7. Bone Marrow Diseases

    Science.gov (United States)

    Bone marrow is the spongy tissue inside some of your bones, such as your hip and thigh bones. It contains stem cells. The stem cells can ... the platelets that help with blood clotting. With bone marrow disease, there are problems with the stem ...

  8. Orchestration of bone remodeling

    NARCIS (Netherlands)

    Moester, Martiene Johanna Catharina

    2014-01-01

    In healthy individuals, a balance exists between bone formation and resorption. Disruption of this balance can lead to higher or lower bone mass, and disease such as osteoporosis. Treatment for osteoporosis generally inhibits bone resorption, but does not rebuild bone to a healthy strength. More kno

  9. Bone grafts in dentistry

    Directory of Open Access Journals (Sweden)

    Prasanna Kumar

    2013-01-01

    Full Text Available Bone grafts are used as a filler and scaffold to facilitate bone formation and promote wound healing. These grafts are bioresorbable and have no antigen-antibody reaction. These bone grafts act as a mineral reservoir which induces new bone formation.

  10. Targeted Panel Sequencing for Clinical Diagnosis in Inherited Bone Marrow Failure Syndromes%利用靶向基因测序技术诊断遗传性骨髓衰竭综合征

    Institute of Scientific and Technical Information of China (English)

    王剑; 罗长缨; 丁丽霞; 王坚敏; 罗成娟; 傅启华; 沈亦平; 陈静

    2014-01-01

    Objective Inherited bone marrow failure syndromes (IBMFS) is a group of genetically heterogeneous diseases characterized by bone marrow failure,congenital anomalies,and susceptibility to tumour.Because of its phenotypic variability,diagnosis can be challenging for clinicians.This study is aimed to develop a targeted panel sequencing pipeline to clinical diagnosis in IBMFS patients.Methods From August 2009 to December 2013,21 suspected IBMFS patients who received treatment in Shanghai Children's Medical Center,Affiliated Hospital of Shanghai Jiaotong University School of Medicine were selected into this study.Agilent Haloplex method was used to capture the IBMFS Library of known genes and related genes.Illumina platform was used for high-throughput sequencing,and the sequencing data were aligned by NextGENe software.The variants were filtered and interpreted by the online tool Ingenuity Variant Analysis,and Sanger sequencing was used to confirm the variations (The study protocol was approved by the Ethical Review Board of Investigation in Human Being of Shanghai Children's Medical Center,Affiliated Hospital of Shanghai Jiaotong University School of Medicine.Informed consent was obtained from the guardians of all patients).Results According to the 21 patients' sequencing data,the total number of reads were 1 570 558-3 577 386.More than 95% of the sequencing reads were aligned to human genome reference sequence and more than 85 of the sequencing reads were in the target sequence.The average sequencing depth was 444×-1 092×.More than 95% of the coverage area that the sequencing depth was higher than 20 × and the uniformity was higher than 85 %.Among the 21 patients with suspected IBMFS,pathogenic mutations have been identified in 12 patients,including 6 cases with Fanconi anemia (FA),2 cases with dyskeratosis congenital (DC),2 cases with severe congenital neutropenia (SCN),1 case with Diamond-Blackfan anemia (DBA),and 1 case with Shwachman-Diamond syndrome

  11. Bone Health and Osteoporosis.

    Science.gov (United States)

    Lupsa, Beatrice C; Insogna, Karl

    2015-09-01

    Osteoporosis is characterized by low bone mass and microarchitectural deterioration of bone tissue leading to decreased bone strength and an increased risk of low-energy fractures. Central dual-energy X-ray absorptiometry measurements are the gold standard for determining bone mineral density. Bone loss is an inevitable consequence of the decrease in estrogen levels during and following menopause, but additional risk factors for bone loss can also contribute to osteoporosis in older women. A well-balanced diet, exercise, and smoking cessation are key to maintaining bone health as women age. Pharmacologic agents should be recommended in patients at high risk for fracture.

  12. Childhood myelodysplastic syndrome.

    Science.gov (United States)

    Chatterjee, Tathagata; Choudhry, V P

    2013-09-01

    Myelodysplastic syndrome (MDS) comprises of a heterogeneous group of bone marrow disorders resulting from a clonal stem cell defect characterised by cytopenias despite a relatively hypercellular marrow, ineffective hematopoiesis, morphological dysplasia in the marrow elements, no response to hematinics such as iron, B12 or folic acid and risk of progression to leukemia. Myelodysplastic syndrome in childhood is extremely rare and accounts for less than 5% of all hematopoietic neoplasms in children below the age of 14 y. The primary MDS in children, also known as de novo MDS differs from secondary MDS which generally follows congenital or acquired bone marrow (BM) failure syndromes as well as from therapy related MDS, commonly resulting from cytotoxic therapy. MDS associated with Down syndrome which accounts for approximately one-fourth of cases of childhood MDS is now considered a unique biologic entity synonymous with Down syndrome-related myeloid leukemia and is biologically distinct from other cases of childhood MDS. Refractory cytopenia of childhood (RCC) is the commonest type of MDS. Genetic changes predisposing to MDS in childhood remain largely obscure. Monosomy 7 is by-far the commonest cytogenetic abnormality associated with childhood MDS; however most cases of RCC show a normal karyotype. Complex cytogenetic abnormalities and trisomy 8 and trisomy 21 are also occasionally observed. The most effective and curative treatment is Hematopoietic stem cell transplantation and this is particularly effective in children with the monosomy 7 genetic defect as well as those displaying complex karyotype abnormalities provided it is instituted early in the course of the disease.

  13. BONE IN OSTEOPETROSIS

    Directory of Open Access Journals (Sweden)

    Ramkumar

    2014-04-01

    Full Text Available Osteopetrosis, a generalized developmental bone disease due to genetic disturbances, characterized by failure of bone re sorption and continuous bone formation making the bone hard, dense and brittle. Bones of intramembranous ossification and enchondrial ossification are affected genetically and symmetrically. During the process of disease the excess bone formation obliterates the cranial foramina and presses the optic, auditory and facial nerves resulting in defective vision, impaired hearing and facial paralysis. The bone formation in osteopetrosis affects bone marrow function leading to severe anemia and deficient of blood cells. The bone devoid of blood supply due to compression of blood vessels by excess formation of bone are prone to osteomyelitic changes with suppuration and pathological fracture if exposed to infection. Though the condition is chronic progressive, it produces changes leading to fatal condition, it should be studied thoroughly by everyone and hence this article presents a classical case of osteopetrosis with detailed description and discussion for the benefit of readers

  14. Kindler syndrome

    Directory of Open Access Journals (Sweden)

    Kaviarasan P

    2005-01-01

    Full Text Available Kindler syndrome is a rare autosomal recessive disorder associated with skin fragility. It is characterized by blistering in infancy, photosensitivity and progressive poikiloderma. The syndrome involves the skin and mucous membrane with radiological changes. The genetic defect has been identified on the short arm of chromosome 20. This report describes an 18-year-old patient with classical features like blistering and photosensitivity in childhood and the subsequent development of poikiloderma. The differential diagnosis of Kindler syndrome includes diseases like Bloom syndrome, Cockayne syndrome, dyskeratosis congenita, epidermolysis bullosa, Rothmund-Thomson syndrome and xeroderma pigmentosum. Our patient had classical cutaneous features of Kindler syndrome with phimosis as a complication.

  15. 下腔静脉过滤器对骨水泥植入综合征的预防作用研究%Prevention of bone cement implantation syndrome by inferior vena cava filter

    Institute of Scientific and Technical Information of China (English)

    师晓琴; 汪晨; 郭万刚; 彭娜; 郭征; 韩保君; 赵雄; 罗中华; 于茗; 刘利荀

    2009-01-01

    目的 研究下腔静脉过滤器(rvcr)对骨水泥植入综合征(BCIS)的预防作用. 方法雄性绵羊10只,体质量25~30 kg,随机分为A组(不植入IVCF)和B组(植入IVCF)(n=5).麻醉后B组绵羊先在1250 mA透视机透视下,由颈内静脉经右心房在.肾下极5 cm处下腔静脉内植入IVCF.后将两组绵羊离断股骨颈扩髓腔,植入10 mL骨水泥,并逐渐增加髓腔内压,同期观测血压、心率、中心静脉压(CVP)和血气变化,心前区超声心动图动态实时显示心腔内情况改变.术毕分离肺脏,油红染色观察肺组织病理变化.结果 A组绵羊植入骨水泥后,当将股骨髓腔压力增加至120mm Hg时,右心房、右心室内即出现了点状不均匀回声,且随髓腔压力继续增加,点状回声变成大量雪花状叫声影,并伴血压、PaO2明显下降,25 min后收缩压下降至(80±11)mm Hg(P<0.01),Pa02降至最低(P<0.05),而心率、CVP进行性升高,血气分析示呼吸性酸中毒合并代谢性酸中毒,病理提示肺动脉血管内广泛散布大量脂肪栓子,血管腔阻塞;而B组绵羊在植入骨水泥后,在股骨髓腔内压升至400 mm№时尚未观察到右心腔出现脂肪栓子回声影,且血压、PaO2、心率、CVP较植入前未见明显降低或升高(P>0.05),血气分析结果示通气正常,肺组织脂肪油红染色阴性. 结论 IVCF可有效预防骨水泥植入而引起的BCIS的发生.%Objective To observe the effect of inferior vena cava filter (IVCF) on prevention of bone cement implantation syndrome (BCIS). Methods Ten sheep were divided into 2 even groups, BCIS and LVCF intervention ones. First IVCF was implanted into the inferior vena cava through cervical vena-right atrium pathway under fluoroscopic monitoring to observe the influence of IVCF on BCIS. Then BCIS was es-tablished in the same sheep by compressing 10 mL of bone cement into a sheep medullary canal after mutilation of the left femur. Arterial blood pressure, heart rate, central

  16. Bone cysts: unicameral and aneurysmal bone cyst.

    Science.gov (United States)

    Mascard, E; Gomez-Brouchet, A; Lambot, K

    2015-02-01

    Simple and aneurysmal bone cysts are benign lytic bone lesions, usually encountered in children and adolescents. Simple bone cyst is a cystic, fluid-filled lesion, which may be unicameral (UBC) or partially separated. UBC can involve all bones, but usually the long bone metaphysis and otherwise primarily the proximal humerus and proximal femur. The classic aneurysmal bone cyst (ABC) is an expansive and hemorrhagic tumor, usually showing characteristic translocation. About 30% of ABCs are secondary, without translocation; they occur in reaction to another, usually benign, bone lesion. ABCs are metaphyseal, excentric, bulging, fluid-filled and multicameral, and may develop in all bones of the skeleton. On MRI, the fluid level is evocative. It is mandatory to distinguish ABC from UBC, as prognosis and treatment are different. UBCs resolve spontaneously between adolescence and adulthood; the main concern is the risk of pathologic fracture. Treatment in non-threatening forms consists in intracystic injection of methylprednisolone. When there is a risk of fracture, especially of the femoral neck, surgery with curettage, filling with bone substitute or graft and osteosynthesis may be required. ABCs are potentially more aggressive, with a risk of bone destruction. Diagnosis must systematically be confirmed by biopsy, identifying soft-tissue parts, as telangiectatic sarcoma can mimic ABC. Intra-lesional sclerotherapy with alcohol is an effective treatment. In spinal ABC and in aggressive lesions with a risk of fracture, surgical treatment should be preferred, possibly after preoperative embolization. The risk of malignant transformation is very low, except in case of radiation therapy.

  17. 骨髓间充质干细胞对肾病综合征大鼠CD4+CD25+调节性T细胞的影响%Effects of bone marrow mesenchymal stem cell transplantation on CD4+CD25+regulatory T cells in rats with primary nephrotic syndrome

    Institute of Scientific and Technical Information of China (English)

    杨焕丹; 张锐锋; 封东进; 朱冰冰; 吕娟

    2014-01-01

    BACKGROUND:Decreased function and reduced number of CD4+CD25+regulatory T cells have been considered the major manifestation of immunity dysfunction in children with primary nephrotic syndrome. Bone marrow mesenchymal stem cells have immunoregulation effects, which up-regulate CD4+CD25+regulatory T cells, inhibit proliferation of lymphocytes, and have been widely used in many immune diseases. OBJECTIVE:To investigate the effects of bone marrow mesenchymal stem celltransplantation on the CD4+CD25+regulatory T cells of peripheral blood in rats with primary nephrotic syndrome. METHODS:Bone marrow mesenchymal stem cells from six Sprague-Dawley rats were isolated, passaged and utilized for cellsuspension preparation. At the third passage, bone marrow mesenchymal stem cells were used for transplantation. The remaining 30 rats were randomly and equal y divided into three groups:normal group, normal saline infusion group, and bone marrow mesenchymal stem cells group. The rat models of primary nephrotic syndrome were established by single injection of adriamycin intravenously through tail vein in the latter two groups. Rats were then treated with bone marrow mesenchymal stem cells (1×10 7 ) (bone marrow mesenchymal stem cells group) or normal saline (normal saline infusion group) through tail vein at the same time after adriamycin administration. The normal group received no treatment. RESULTS AND CONCLUSION:Compared with the normal group, rats in the normal saline infusion group developed nephropathy characterized by ascites, proteinuria, hypoalbuminemia, hypercholastero-lnemia, and progressive renal injury. However, the proteinurine and clinical severity in bone marrow mesenchymal stem cells group were significantly ameliorated after treatment with bone marrow mesenchymal stem cells. CD4+CD25+Treg/CD4+Treg in the peripheral blood in the bone marrow mesenchymal stem cells group and normal saline infusion group were significantly higher than that in the normal group at 28

  18. Kenny-Caffey syndrome type 1 in an Egyptian girl

    Directory of Open Access Journals (Sweden)

    Kotb Abbass Metwalley

    2012-01-01

    Full Text Available Kenny-Caffey syndrome type 1 (KCS1 (OMIM 244460 is a rare syndrome characterized by growth retardation, uniformly small slender long bones with medullary stenosis, thickened cortex of the long bones, hypocalcemia possibly with tetany at an early age and normal intelligence. The primary outcome of KCS1 is short stature. We present here an Egyptian girl aged 32 months with typical feature of KCS1.

  19. A new case of Grange syndrome without cardiac findings.

    Science.gov (United States)

    Wallerstein, Robert; Augustyn, Ann Marie; Wallerstein, Donna; Elton, Leslie; Tejeiro, Beatriz; Johnson, Valerie; Lieberman, Kenneth

    2006-06-15

    Grange syndrome comprises arterial stenoses with hypertension, brachysyndactyly, bone fragility, learning disability, and cardiac defects. To date, we know of two reported families with five affected individuals. We report on one of the youngest cases, in a third family, a 3-year-old girl with brachysyndactyly, renal artery stenosis with hypertension, and bone fragility. She does not have apparent cardiac disease, suggesting cardiac anomalies may not be an obligatory finding in this syndrome.

  20. Chondroectodermal dysplasia: a rare syndrome.

    Directory of Open Access Journals (Sweden)

    Dana Tahririan

    2014-06-01

    Full Text Available Chondroectodermal dysplasia (Ellis-Van Creveld syndrome is a rare autosomal recessive congenital abnormality. This syndrome is characterized by a spectrum of clinical findings, among which chondrodystrophy, polydactyly, ectodermal dysplasia, and congenital cardiac anomalies are the most common. It is imperative to not overlook the cardiac complications in patients with this syndrome during dental procedures. The case presented here, although quite rare, was detected under normal conditions and can be alarming for dental care providers. Clinical reports outline the classical and unusual oral and dental manifestations, which help health care providers diagnose chondroectodermal dysplasia, and refer patients with this syndrome to appropriate health care professionals to receive treatment to prevent further cardiac complications and bone deformities.

  1. Hemophagocytic Syndrome an Autopsy Case

    Directory of Open Access Journals (Sweden)

    Ferah Karayel

    2003-08-01

    Full Text Available Hemophagocytic Syndrome (HPS is frequently fatal condition accompanied with fever, cytopenia, hepatosplenomegaly, abnormal liver function tests, hypertriglyceridemia and hypofibrinogenemia. The goal of this study is to present HPS which we encountered very often in pediatric autopsies and emphasize the necessity of collecting tissue specimens from bone marrow, spleen and lymph nodes by including this syndrome in differentiating autopsy diagnosis from situations with similar symptômes. This case was a four mounth old male child who was autopsied in The State Institute of Forensic Medicine, Istanbul. The child was presented without external trauma findings, small sized subarachnoidal hemorrages in brain, 0.5 cm in diameter atrial septal defect in the heart, and dappled atelectatic feature in both lungs were observed in gross examination. While liver was 380 gr in weight and showed colour changes to yellow, spleen was 320 gr in weight and showed no evidence of gross changing but severe congestion. No evidence of gross pathologic manifestations was found in other organs. The histopathological examination of the organs showed mononuclear inflammatory cell infiltration with histiocytic dominance in myocardium, lungs, brain, cerebellum, lymph nodes and bone marrow. Particularly in bone marrow specimens, there was phagocytosis of erythrocyte, polymorphonuclear leukocyte and lymphocyte in cytoplasm of some histiocytes. The infiltration showed granulomatous structures in brain and cerebellum. In lung specimens, that infiltration was accompanied with alveolitis, alveolar epithelial damage and hyaline membrane materials, but there was no viral inclusion. Liver, kidneys and spleen were not evaluated in detail because of autolysis. In the evidence of clinical and microscopical findings, the diagnosis was 'Hemophagocytic Syndrome'. Hemophagocytic Syndrome which could be secondary to a viral infection was considered the cause of death in this case showed no

  2. Regulation of Bone Metabolism

    Science.gov (United States)

    Shahi, Maryam; Peymani, Amir; Sahmani, Mehdi

    2017-01-01

    Bone is formed through the processes of endochondral and intramembranous ossification. In endochondral ossification primary mesenchymal cells differentiate to chondrocytes and then are progressively substituted by bone, while in intramembranous ossification mesenchymal stem cells (MSCs) differentiate directly into osteoblasts to form bone. The steps of osteogenic proliferation, differentiation, and bone homeostasis are controlled by various markers and signaling pathways. Bone needs to be remodeled to maintain integrity with osteoblasts, which are bone-forming cells, and osteoclasts, which are bone-degrading cells.In this review we considered the major factors and signaling pathways in bone formation; these include fibroblast growth factors (FGFs), bone morphogenetic proteins (BMPs), wingless-type (Wnt) genes, runt-related transcription factor 2 (RUNX2) and osteoblast-specific transcription factor (osterix or OSX). PMID:28367467

  3. Regulation of Bone Metabolism.

    Science.gov (United States)

    Shahi, Maryam; Peymani, Amir; Sahmani, Mehdi

    2017-04-01

    Bone is formed through the processes of endochondral and intramembranous ossification. In endochondral ossification primary mesenchymal cells differentiate to chondrocytes and then are progressively substituted by bone, while in intramembranous ossification mesenchymal stem cells (MSCs) differentiate directly into osteoblasts to form bone. The steps of osteogenic proliferation, differentiation, and bone homeostasis are controlled by various markers and signaling pathways. Bone needs to be remodeled to maintain integrity with osteoblasts, which are bone-forming cells, and osteoclasts, which are bone-degrading cells.In this review we considered the major factors and signaling pathways in bone formation; these include fibroblast growth factors (FGFs), bone morphogenetic proteins (BMPs), wingless-type (Wnt) genes, runt-related transcription factor 2 (RUNX2) and osteoblast-specific transcription factor (osterix or OSX).

  4. Treacher Collins Syndrome: A Case Report and a Brief Review on Diagnostic Aids.

    Science.gov (United States)

    Shetty, Sowmya B; Thomas, Ann; Pidamale, Raghavendra

    2011-01-01

    Treacher Collins syndrome (Mandibulofacial dysostosis) is characterized by deafness, hypoplasia of facial bones (mandible, maxilla and cheek bone), antimongoloid slant of palpebral fissures, coloboma of the lower lid and bilateral anomalies of the auricle. Hypoplasia of the facial bones may be the first indicator of the disorder. We present a case report of Treacher Collins syndrome with their extraoral findings, intraoral findings and their treatment plan. We have also included the various etiological factors, clinical diagnostic aids, and multidisciplinary team approach.

  5. ACHONDROPLASIA AND ELLIS VAN CREVELD SYNDROME

    Directory of Open Access Journals (Sweden)

    Ramkumar

    2014-03-01

    Full Text Available Stunted growth of an individual occurs in many systemic conditions and the main cause is due to defective cartilage growth in the long bones particularly in the lower extremities. In achondroplasia and Ellis Van Creveld syndrome the endochondral ossification of long bones are affected but in Ellis Van Creveld syndrome, the stunted growth is associated with ectodermal dysplasia, polydactyly and cardiac diseases. The common feature for both achondroplasia and Ellis Van Creveld syndrome is the individual’s trunk is normal but the lower extremities are short. Though there is a cartilage dysfunction in these two cases, different clinical manifestation occurs in the body and these things are recorded from two case reports of Achondroplasia and Ellis Van Creveld syndrome and submitted the clinical differences with explanation and discussion.

  6. Distinctive skeletal dysplasia in Cockayne syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Silengo, M.C.; Franceschini, P.; Bianco, R.; Biagioli, M.; Pastorin, L.; Vista, N.; Baldassar, A.; Benso, L.

    1986-03-01

    Cockayne syndrome is a well-known autosomal recessive form of dwarfism with senile-like appearance. Skeletal changes such as flattening of vertebral bodies, ivory epiphyses and thickening of cranial vault, have been observed in some patients with this condition. We describe here a 5.5-year-old girl with the typical clinical signs of Cockayne syndrome and a distinctive form of bone dysplasia with major involvement of the spine.

  7. Roentgenologic features of the Meckel syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Seppaenen, U.; Herva, R.

    1983-09-21

    The Meckel syndrome is an autosomal recessive lethal malformation syndrome. The main features are multicystic dysplastic kidneys, microcephaly with occipital encephalocele and polydactyly. This paper describes 6 new cases, with special reference to skeletal findings in postmortem total body radiographs Microcephaly with an occipital bone defect and encephalocele or hydrocephaly (1/6), short upper extremities, bell-shaped thorax with abdominal distension and postaxial polydactyly in the hands and feet were constant findings in these cases.

  8. Marshall-Smith syndrome: case report

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Jin Yong; Lee, Shi Kyung; Cho, In Chul; Han, Chun Hwan [Kangnam General Hosital Public Corporation, Seoul (Korea, Republic of)

    2002-12-01

    Marshall-Smith syndrome is a rare disease, with about 29 cases reported to date. It is characterized by accelerated bony growth and maturation, phalangeal abnormalities (wide middle and narrow distal phalanges), unusual facial features (prominent eyes, bluish sclerae, coarse eyebrows, an upturned nose, hypoplastic facial bones, and shallow orbits), failure to thrive, respiratory difficulties, and psychomotor retardation. This report of the radiologic findings of Marshall-Smith syndrome is, as for as we know, the first to be published in Korea.

  9. Syndromic autism: II. Genetic syndromes associated with autism

    National Research Council Canada - National Science Library

    Artigas-Pallarés, J; Gabau-Vila, E; Guitart-Feliubadaló, M

    2005-01-01

    ..., tuberous sclerosis, Duchenne's disease, Timothy syndrome, 10p terminal deletion, Cowden syndrome, 45,X/46,XY mosaicism, Myhre syndrome, Sotos syndrome, Cohen syndrome, Goldenhar syndrome, Joubert...

  10. Edwards' syndrome.

    Science.gov (United States)

    Crawford, Doreen; Dearmun, Annette

    2016-12-08

    Edwards' syndrome is a serious genetic condition that affects fetal cellular functions, tissue development and organogenesis. Most infants with the syndrome are female, but there is no race predominance.

  11. Dravet Syndrome

    Science.gov (United States)

    ... Craniosynostosis Information Page Creutzfeldt-Jakob Disease Information Page Cushing's Syndrome Information Page Dandy-Walker Syndrome Information Page Deep Brain Stimulation for Parkinson's Disease Information Page Dementia Information ...

  12. Paraneoplastic Syndromes

    Science.gov (United States)

    ... dementia, seizures, sensory loss in the limbs, and vertigo or dizziness. Paraneoplastic syndromes include Lambert-Eaton myasthenic ... dementia, seizures, sensory loss in the limbs, and vertigo or dizziness. Paraneoplastic syndromes include Lambert-Eaton myasthenic ...

  13. Turner Syndrome

    Science.gov (United States)

    Turner syndrome is a genetic disorder that affects a girl's development. The cause is a missing or incomplete ... t work properly. Other physical features typical of Turner syndrome are Short, "webbed" neck with folds of skin ...

  14. Cushing's Syndrome

    Science.gov (United States)

    Cushing's syndrome is a hormonal disorder. The cause is long-term exposure to too much cortisol, a hormone ... cause your body to make too much cortisol. Cushing's syndrome is rare. Some symptoms are Upper body obesity ...

  15. Lynch Syndrome

    Science.gov (United States)

    ... colon cancer may include surgery, chemotherapy and radiation therapy. Cancer screening for people with Lynch syndrome If you ... et al. Milestones of Lynch syndrome: 1895-2015. Nature Reviews Cancer. http://www.nature.com/nrc/journal/vaop/ncurrent/ ...

  16. Metabolic Syndrome

    Science.gov (United States)

    Metabolic syndrome is a group of conditions that put you at risk for heart disease and diabetes. These ... doctors agree on the definition or cause of metabolic syndrome. The cause might be insulin resistance. Insulin is ...

  17. Meckel syndrome

    National Research Council Canada - National Science Library

    Salonen, R; Paavola, P

    1998-01-01

    Meckel syndrome (MKS) is a lethal syndrome with a central nervous system malformation, usually occipital meningoencephalocele, bilaterally large multicystic kidneys with fibrotic changes of the liver, and polydactyly in most cases...

  18. Angelman Syndrome

    Science.gov (United States)

    ... this syndrome often display hyperactivity, small head size, sleep disorders, and movement and balance disorders that can cause ... this syndrome often display hyperactivity, small head size, sleep disorders, and movement and balance disorders that can cause ...

  19. Apert Syndrome.

    Science.gov (United States)

    Datta, Saikat; Saha, Sandip; Kar, Arnab; Mondal, Souvonik; Basu, Syamantak

    2014-09-01

    Apert syndrome is one of the craniosynostosis syndromes which, due to its association with other skeletal anomalies, is also known as acrocephalosyndactyly. It is a rare congenital anomaly which stands out from other craniosynostosis due to its characteristic skeletal presentations.

  20. What causes bone loss?

    Science.gov (United States)

    ... bone biology. In: Melmed S, Polonsky KS, Larsen PR, Kronenberg HM, eds. Williams Textbook of Endocrinology . 13th ed. Philadelphia, PA: Elsevier; 2016:chap 29. Maes C, Kronenberg HM. Bone development and remodeling. In: Jameson JL, ...

  1. Osteochondroma (Bone Tumor)

    Science.gov (United States)

    ... to be the most common benign bone tumor, accounting for 35% to 40% of all benign bone ... imaging scans. Doctors may also request computed tomography (CT) scans or magnetic resonance imaging (MRI) scans to ...

  2. What Is Bone Cancer?

    Science.gov (United States)

    ... arms, and jaw are most often affected. Giant cell tumor of bone: This type of primary bone ... Our Volunteers More ACS Sites Bookstore Shop Cancer Atlas Press Room Cancer Statistics Center Volunteer Learning Center ...

  3. Bone substitute biomaterials

    CERN Document Server

    Mallick, K

    2014-01-01

    Bone substitute biomaterials are fundamental to the biomedical sector, and have recently benefitted from extensive research and technological advances aimed at minimizing failure rates and reducing the need for further surgery. This book reviews these developments, with a particular focus on the desirable properties for bone substitute materials and their potential to encourage bone repair and regeneration. Part I covers the principles of bone substitute biomaterials for medical applications. One chapter reviews the quantification of bone mechanics at the whole-bone, micro-scale, and non-scale levels, while others discuss biomineralization, osteoductivization, materials to fill bone defects, and bioresorbable materials. Part II focuses on biomaterials as scaffolds and implants, including multi-functional scaffolds, bioceramics, and titanium-based foams. Finally, Part III reviews further materials with the potential to encourage bone repair and regeneration, including cartilage grafts, chitosan, inorganic poly...

  4. Bone mineral density test

    Science.gov (United States)

    BMD test; Bone density test; Bone densitometry; DEXA scan; DXA; Dual-energy x-ray absorptiometry; p-DEXA; Osteoporosis-BMD ... need to undress. This scan is the best test to predict your risk of fractures. Peripheral DEXA ( ...

  5. Learning about Down Syndrome

    Science.gov (United States)

    ... genetic terms used on this page Learning About Down Syndrome What is Down syndrome? What are the symptoms ... syndrome Additional Resources for Down Syndrome What is Down syndrome? Down syndrome is a chromosomal condition related to ...

  6. Different pretreatments to prevent bone cement implantation syndrome in hip arthroplasty%多种干预措施预处理骨髓腔预防骨水泥植入综合征的研究

    Institute of Scientific and Technical Information of China (English)

    齐向北; 张英泽; 潘进社; 马利杰; 王建朝; 王琳

    2010-01-01

    Objective To investigate possible methods to prevent the adverse effect of bone cement implantation syndrome(BCIS)during hip arthroplasty by the rabbit model.Methods Forty-eight Belgium rabbits of either sexes,1.8-2.4 kg body weight,were armesthetized with intravenous pentobarbitone sodium (10 mg/kg body weight)and anaesthesia was maintained by additional doses of pentobarbitone sodium.The 48 Belgium rabbits(48 hips)were assigned to 8 groups randomly.The control group consisted of 6 rabbits,treated with conventional cementing technique:group 1-7 pretreated the medullary cavity with adrenaline (1:10000),drilling holes in femur,fibrin sealant or combined with these factors before having cement and femoral prosthesis inserted.Arterial blood pressure,central venous pressure and respiration rate were recorded at the carotid artery.the external jugular vein and the tracheal cannula by BL-420E+biological functional experimental system respectively.Data were collected and analyzed with SPSS.Specimens were taken from each lobe of the lung.11le tissue sections were observed.Results The decline in blood pressure in groups C (14.96±2.6)mm Hg,D(17.58±2.06)mm Hg,and G(21.67±5.52)mm Hg was more significant than that in the control group,and the duration of blood pressure drop was shorter in groups A(30.00±5.62)s,C(26.17±2.64)s,E(27.17±3.87)s,F(22.130±3.69)s,and G(20.17±5.04)s.Condusion Adrenaline saline.fibrin sealant and combined use of adrenaline and fibrin sealant.combined use of fibrin sealant and drilling holes.combined use of adrenaline and drilling holes can prevent the decline in blood pressure during the HA.Drilling holes have no effect,but can play a synergistic role with fibrin sealant.%目的 探讨兔髋关节置换术中扩髓后肾上腺素盐水、股骨扩髓区域钻孔及纤维蛋白医用胶(FS胶)对髓腔预处理及其联合应用对术中骨水泥植入综合征的预防作用.方法 采用2×2×2析因实验设计,将

  7. Hunter syndrome: Case report and review of literature

    African Journals Online (AJOL)

    There are about thirteen different clinical syndromes of. MPS.2 We report a case of Hunter syndrome, as far as we know this is the .... egaly and cardiovascular complications after the transplant in children. ' .... Bone marrow trans- plantation in ...

  8. Gracile bone dysplasias

    Energy Technology Data Exchange (ETDEWEB)

    Kozlowski, Kazimierz [Department of Medical Imaging, The Children' s Hospital at Westmead, Locked Bag 4001, Westmead 2145, NSW (Australia); Masel, John [Department of Radiology, Royal Children' s Hospital, Brisbane (Australia); Sillence, David O. [Department of Paediatrics and Child Health, The University of Sydney (Australia); Arbuckle, Susan [Department of Anatomical Pathology, The Children' s Hospital at Westmead, NSW (Australia); Juttnerova, Vera [Oddeleni Lekarske Genetiky, Hradec Kralove (Czech Republic)

    2002-09-01

    Gracile bone dysplasias constitute a group of disorders characterised by extremely slender bones with or without fractures. We report four newborns, two of whom showed multiple fractures. Two babies had osteocraniostenosis and one had features of oligohydramnios sequence. The diagnosis in the fourth newborn, which showed thin long bones and clavicles and extremely thin, poorly ossified ribs, is uncertain. Exact diagnosis of a gracile bone dysplasia is important for genetic counselling and medico-legal reasons. (orig.)

  9. Androgens and bone.

    Science.gov (United States)

    Vanderschueren, Dirk; Vandenput, Liesbeth; Boonen, Steven; Lindberg, Marie K; Bouillon, Roger; Ohlsson, Claes

    2004-06-01

    Loss of estrogens or androgens increases the rate of bone remodeling by removing restraining effects on osteoblastogenesis and osteoclastogenesis, and also causes a focal imbalance between resorption and formation by prolonging the lifespan of osteoclasts and shortening the lifespan of osteoblasts. Conversely, androgens, as well as estrogens, maintain cancellous bone mass and integrity, regardless of age or sex. Although androgens, via the androgen receptor (AR), and estrogens, via the estrogen receptors (ERs), can exert these effects, their relative contribution remains uncertain. Recent studies suggest that androgen action on cancellous bone depends on (local) aromatization of androgens into estrogens. However, at least in rodents, androgen action on cancellous bone can be directly mediated via AR activation, even in the absence of ERs. Androgens also increase cortical bone size via stimulation of both longitudinal and radial growth. First, androgens, like estrogens, have a biphasic effect on endochondral bone formation: at the start of puberty, sex steroids stimulate endochondral bone formation, whereas they induce epiphyseal closure at the end of puberty. Androgen action on the growth plate is, however, clearly mediated via aromatization in estrogens and interaction with ERalpha. Androgens increase radial growth, whereas estrogens decrease periosteal bone formation. This effect of androgens may be important because bone strength in males seems to be determined by relatively higher periosteal bone formation and, therefore, greater bone dimensions, relative to muscle mass at older age. Experiments in mice again suggest that both the AR and ERalpha pathways are involved in androgen action on radial bone growth. ERbeta may mediate growth-limiting effects of estrogens in the female but does not seem to be involved in the regulation of bone size in males. In conclusion, androgens may protect men against osteoporosis via maintenance of cancellous bone mass and

  10. Acute compartment syndrome of the forearm caused by calcific tendinitis of the distal biceps.

    Science.gov (United States)

    Garayoa, Santiago Amillo; Romero-Muñoz, Luis M; Pons-Villanueva, Juan

    2010-12-01

    Acute compartment syndrome of the forearm requires immediate treatment to avoid damage of the soft tissues and a poor functional outcome for the forearm. Muscular and bone lesions are the main causes of acute compartment syndromes. We report a case of acute compartment syndrome of the forearm caused by a calcific tendinitis of the distal biceps.

  11. Velocardiofacial Syndrome

    Science.gov (United States)

    Gothelf, Doron; Frisch, Amos; Michaelovsky, Elena; Weizman, Abraham; Shprintzen, Robert J.

    2009-01-01

    Velocardiofacial syndrome (VCFS), also known as DiGeorge, conotruncal anomaly face, and Cayler syndromes, is caused by a microdeletion in the long arm of Chromosome 22. We review the history of the syndrome from the first clinical reports almost half a century ago to the current intriguing molecular findings associating genes from the…

  12. Fraser syndrome

    Directory of Open Access Journals (Sweden)

    Kalpana Kumari M

    2008-04-01

    Full Text Available Fraser syndrome or cryptophthalmos is a rare autosomal recessive disorder characterized by major features such as cryptophthalmos, syndactyly and abnormal genitalia. The diagnosis of this syndrome can be made on clinical examination and perinatal autopsy. We present the autopsy findings of a rare case of Fraser syndrome in a male infant.

  13. Rowell syndrome

    Directory of Open Access Journals (Sweden)

    Ramesh Y Bhat

    2014-01-01

    Full Text Available Rowell syndrome is a rare disease consisting of erythema multiforme-like lesions associated with lupus erythematosus. The syndrome occurs mostly in middle-aged women. The authors describe the syndrome in a 15-year-old boy who responded well to systemic steroids and hydroxychloroquine.

  14. Wallenberg's Syndrome

    Science.gov (United States)

    ... Information Page You are here Home » Disorders » All Disorders Wallenberg's Syndrome Information Page Wallenberg's Syndrome Information Page What ... better ways to prevent, treat, and ultimately cure disorders such as Wallenberg’s syndrome. Information from the National Library of Medicine’s ...

  15. Enzymatic maceration of bone

    DEFF Research Database (Denmark)

    Uhre, Marie-Louise; Eriksen, Anne Marie; Simonsen, Kim Pilkjær;

    2015-01-01

    the bones. The DNA analysis showed that DNA was preserved on all the pieces of bones which were examined. Finally, the investigation suggests that enzyme maceration could be gentler on the bones, as the edges appeared less frayed. The enzyme maceration was also a quicker method; it took three hours compared...

  16. Ichthyosis, exocrine pancreatic insufficiency, impaired neutrophil chemotaxis, growth retardation, and metaphyseal dysplasia (Shwachman syndrome). : Report of a case with extensive skin lesions (clinical, histological, and ultrastructural findings)

    NARCIS (Netherlands)

    M. Goeteyn (M.); A.P. Oranje (Arnold); V.D. Vuzevski (Vojislav); R. de Groot (Ronald); L.W.A. van Suijlekom-Smit (Lisette)

    1991-01-01

    textabstractThe Shwachman syndrome comprises exocrine pancreatic insufficiency, growth retardation, and bone marrow hypoplasia resulting in neutropenia. Clinical, morphological, and ultrastructural studies, as well as hair analysis, were performed in a patient with Shwachman's syndrome and severe

  17. 儿童阻塞性睡眠呼吸暂停低通气综合征患者骨龄和血清骨钙素的测定分析%Determination and analysis of serum osteocalcin and bone age in children with obstructive sleep apnea hypopnea syndrome

    Institute of Scientific and Technical Information of China (English)

    李文丽; 冯慧伟; 张辉; 张海令; 张红萍; 范献良

    2012-01-01

    Objective To study the influence of obstructive sleep apnea hypopnea syndrome on children's growth, especially on their bone growth, by the determinations and analysis of the serum osteocalcin level and bone age, including height, weight and an other parameters. Methods 29 children, diagnosed as OSAHS according to their history, physical examination and polysomnography, were enrolled in the experimental group and the another 13 children without sleep snoring and dyspnoea were enrolled into the control group. Anteroposterior (AP) X-ray film was taken of the left wrist to assess bone age, and the serum osteocalcin was measured in a fasting blood sample. Also, the height and weight data of children were measured. Results The bone age in the experimental and control group were 6.31 +1.12, and 6.45 + 1. 57 years, respectively (t = 0. 15, P > 0.05). The D-values in the bone age and the real age for the two groups showed a significant difference (t= 8. 07, P < 0.05). The serum osteocalcin was 7.41 + 0. 31 μg/L in the experimental group, and 10. 22 + 0. 50 μg/L in the control group (t = 10. 17, P < 0. 05). Conclusion Compared with the controls, the bone age of children with OSAHS was lower and the serum osteocalcin level was decreased, which indicated that OSAHS probably exerts influence on bone growth.%目的 通过对阻塞性睡眠呼吸暂停低通气综合征(OSAHS)患儿骨龄、血清骨钙素水平、身高、体质量等参数的测定分析,探讨OSAHS对儿童患者生长发育,尤其是对骨骼生长发育的影响.方法 根据就诊儿童病史、症状、体征及多导睡眠仪监测结果,选择OSAHS患儿29例为实验组,同时选择无睡眠打鼾和呼吸障碍的健康儿童13例作为对照组.两组儿童均拍摄左手正位X线片测算骨龄,抽取空腹血测定血清骨钙素水平,同时对身高、体质量等指标进行测算.结果 OSAHS实验组骨龄(6.31±1.12)岁,对照组骨龄(6.45±1.57)岁,差异无统计学意义(t=0.15,P>0

  18. A clinical overview of bone marrow edema

    Directory of Open Access Journals (Sweden)

    M. Manara

    2014-07-01

    Full Text Available Bone marrow edema (BME is a descriptive term which identifies a specific magnetic resonance imaging (MRI pattern that can be observed in a number of clinical entities, which are often characterized by pain as their main symptom, but show significant differences in terms of histopathological findings, causal mechanisms and prognosis. Bone marrow lesions in the subchondral bone of subjects with knee osteoarthritis (OA seem to be associated with pain and progression of cartilage damage over time. Some histopathological studies of advanced OA have shown a prevalent fibrosis and bone marrow necrosis. BME of the subchondral bone in rheumatoid arthritis is associated with an infiltrate of inflammatory cells and osteoclasts and has a predictive value of further development of erosions. In spondyloarthritis, BME of the sacroiliac joints identifies an active sacroiliitis and is associated with histological inflammation and radiographic progression, whereas the relationship between BME lesions of the spine and syndesmophyte development is still controversial. BME syndromes (BMES, such as transient osteoporosis of the hip, regional migratory osteoporosis, and transient post-traumatic BMES, are characterized by a BME pattern on MRI and a self-limiting course. The potential evolution of BMES toward osteonecrosis is still controversial.

  19. Oxytocin and bone

    Science.gov (United States)

    Sun, Li; Zaidi, Mone; Zallone, Alberta

    2014-01-01

    One of the most meaningful results recently achieved in bone research has been to reveal that the pituitary hormones have profound effect on bone, so that the pituitary-bone axis has become one of the major topics in skeletal physiology. Here, we discuss the relevant evidence about the posterior pituitary hormone oxytocin (OT), previously thought to exclusively regulate parturition and breastfeeding, which has recently been established to directly regulate bone mass. Both osteoblasts and osteoclasts express OT receptors (OTR), whose stimulation enhances bone mass. Consistent with this, mice deficient in OT or OTR display profoundly impaired bone formation. In contrast, bone resorption remains unaffected in OT deficiency because, even while OT stimulates the genesis of osteoclasts, it inhibits their resorptive function. Furthermore, in addition to its origin from the pituitary, OT is also produced by bone marrow osteoblasts acting as paracrine-autocrine regulator of bone formation modulated by estrogens. In turn, the power of estrogen to increase bone mass is OTR-dependent. Therefore, OTR−/− mice injected with 17β-estradiol do not show any effects on bone formation parameters, while the same treatment increases bone mass in wild-type mice. These findings together provide evidence for an anabolic action of OT in regulating bone mass and suggest that bone marrow OT may enhance the bone-forming action of estrogen through an autocrine circuit. This established new physiological role for OT in the maintenance of skeletal integrity further suggests the potential use of this hormone for the treatment of osteoporosis. PMID:25209411

  20. Cochlear hearing loss in patients with Laron syndrome.

    Science.gov (United States)

    Attias, Joseph; Zarchi, Omer; Nageris, Ben I; Laron, Zvi

    2012-02-01

    The aim of this prospective clinical study was to test auditory function in patients with Laron syndrome, either untreated or treated with insulin-like growth factor I (IGF-I). The study group consisted of 11 patients with Laron syndrome: 5 untreated adults, 5 children and young adults treated with replacement IGF-I starting at bone age Laron syndrome and may be prevented by starting treatment with IGF-I at an early developmental age.

  1. Refeeding syndrome.

    Science.gov (United States)

    Fernández López, M T; López Otero, M J; Alvarez Vázquez, P; Arias Delgado, J; Varela Correa, J J

    2009-01-01

    Refeeding syndrome is a complex syndrome that occurs as a result of reintroducing nutrition (oral, enteral or parenteral) to patients who are starved or malnourished. Patients can develop fluid-balance abnormalities, electrolyte disorders (hypophosphataemia, hypokalaemia and hypomagnesaemia), abnormal glucose metabolism and certain vitamin deficiencies. Refeeding syndrome encompasses abnormalities affecting multiple organ systems, including neurological, pulmonary, cardiac, neuromuscular and haematological functions. Pathogenic mechanisms involved in the refeeding syndrome and clinical manifestations have been reviewed. We provide suggestions for the prevention and treatment of refeeding syndrome. The most important steps are to identify patients at risk, reintroduce nutrition cautiously and correct electrolyte and vitamin deficiencies properly.

  2. [Metabolic syndrome].

    Science.gov (United States)

    Mitsuishi, Masanori; Miyashita, Kazutoshi; Itoh, Hiroshi

    2009-02-01

    Metabolic syndrome, which is consisted of hypertension, dyslipidemia and impaired glucose tolerance, is one of the most significant lifestyle-related disorders that lead to cardiovascular diseases. Among many upstream factors that are related to metabolic syndrome, obesity, especially visceral obesity, plays an essential role in its pathogenesis. In recent studies, possible mechanisms which connect obesity to metabolic syndrome have been elucidated, such as inflammation, abnormal secretion of adipokines and mitochondrial dysfunction. In this review, we focus on the relationship between obesity and metabolic syndrome; and illustrate how visceral obesity contributes to, and how the treatments for obesity act on metabolic syndrome.

  3. Bone regeneration with cultured human bone grafts

    Energy Technology Data Exchange (ETDEWEB)

    Yoshikawa, T.; Nakajima, H. [Nara Medical Univ., Kashihara City (Japan). Dept. of Pathology; Nara Medical Univ., Kashihara City (Japan). Dept. of Orthopedic Surgery; Ohgushi, H.; Ueda, Y.; Takakura, Y. [Nara Medical Univ., Kashihara City (Japan). Dept. of Orthopedic Surgery; Uemura, T.; Tateishi, T. [National Inst. for Advanced Interdisciplinary Research (NAIR), Ibaraki (Japan). Tsukuba Research Center; Enomoto, Y.; Ichijima, K. [Nara Medical Univ., Kashihara City (Japan). Dept. of Pathology

    2001-07-01

    From 73 year old female patient, 3 ml of bone marrow was collected from the ilium. The marrow was cultured to concentrate and expand the marrow mesenchymal cells on a culture dish. The cultured cells were then subculturedeither on another culture dish or in porous areas of hydroxyapatite ceramics in the presence of dexamethasone and beta-glycerophosphate (osteo genic medium). The subculturedtissues on the dishes were analyzed by scanning electron microscopy (SEM), and subculturedtissues in the ceramics were implanted intraperitoneally into athymic nude mice. Vigorous growth of spindle-shaped cells and a marked formation of bone matrix beneath the cell layers was observed on the subculture dishes by SEM. The intraperitoneally implanted ceramics with cultured tissues revealed thick layer of lamellar bone together with active osteoblasts lining in many pore areas of the ceramics after 8 weeks. The in vitro bone formations on the culture dishes and in vivo bone formation in porous ceramics were detected. These results indicate that we can assemble an in vitro bone/ceramic construct, and due to the porous framework of the ceramic, the construct has osteogenic potential similar to that of autologous cancellous bone. A significant benefit of this method is that the construct can be made with only a small amount of aspirated marrow cells from aged patients with little host morbidity. (orig.)

  4. Cytology of Bone.

    Science.gov (United States)

    Barger, Anne M

    2017-01-01

    Cytology of bone is a useful diagnostic tool. Aspiration of lytic or proliferative lesions can assist with the diagnosis of inflammatory or neoplastic processes. Bacterial, fungal, and protozoal organisms can result in significant osteomyelitis, and these organisms can be identified on cytology. Neoplasms of bone including primary bone tumors such as osteosarcoma, chondrosarcoma, fibrosarcoma, synovial cell sarcoma, and histiocytic sarcoma and tumors of bone marrow including plasma cell neoplasia and lymphoma and metastatic neoplasia can result in significant bone lysis or proliferation and can be diagnosed effectively with cytology. Copyright © 2016 Elsevier Inc. All rights reserved.

  5. Bacillary angiomatosis with bone invasion*

    Science.gov (United States)

    Diniz, Lucia Martins; Medeiros, Karina Bittencourt; Landeiro, Luana Gomes; Lucas, Elton Almeida

    2016-01-01

    Bacillary angiomatosis is an infection determined by Bartonella henselae and B. quintana, rare and prevalent in patients with acquired immunodeficiency syndrome. We describe a case of a patient with AIDS and TCD4+ cells equal to 9/mm3, showing reddish-violet papular and nodular lesions, disseminated over the skin, most on the back of the right hand and third finger, with osteolysis of the distal phalanx observed by radiography. The findings of vascular proliferation with presence of bacilli, on the histopathological examination of the skin and bone lesions, led to the diagnosis of bacillary angiomatosis. Corroborating the literature, in the present case the infection affected a young man (29 years old) with advanced immunosuppression and clinical and histological lesions compatible with the diagnosis. PMID:28099606

  6. [Autoinflammatory syndrome].

    Science.gov (United States)

    Ida, Hiroaki; Eguchi, Katsumi

    2009-03-01

    The autoinflammatory syndromes include a group of inherited diseases that are characterized by 1) seemingly unprovoked episodes of systemic inflammations, 2) absence of high titer of autoantibody or auto-reactive T cell, and 3) inborn error of innate immunity. In this article, we will focus on the clinical features, the pathogenesis related the genetic defects, and the therapeutic strategies in the representative disorders including familial Mediterranean fever (FMF), TNF receptor associated periodic syndrome (TRAPS), cryopyrin-associated periodic syndrome (CAPS), hyper-IgD with periodic fever syndrome (HIDS), syndrome of pyogenic arthritis with pyoderma gangrenosum and acne (PAPA), and Blau syndrome. Recent advances in genetics and molecular biology have proceeded our understanding of the pathogenesis of autoinflammatory syndromes.

  7. Goldbloom's syndrome - a case report.

    Science.gov (United States)

    Santos, Sónia; Estanqueiro, Paula; Salgado, Manuel

    2013-01-01

    The Goldbloom's syndrome (GS) is a rare clinical condition of unknown aetiology, occurring exclusively in the pediatric population. It consists in an idiopathic periosteal hyperostosis with dysproteinemia, whose symptoms can mimic a neoplastic disease. We present a case report illustrating the diagnostic challenge of this condition. The exclusion of the common causes of bone pain, associated with generalized periostitis and increased gammaglobulins suggested the diagnosis of GS. The self-limited symptoms, the resolution of radiological findings in four months and the normalization of laboratory abnormalities within ten months, allowed to establish definitely the diagnosis of GS. GS must be considered when diffuse bone pain, prolonged fever and weight loss are present after exclusion of malignant disease with bone involvement.

  8. Medial tibial stress syndrome.

    Science.gov (United States)

    Reshef, Noam; Guelich, David R

    2012-04-01

    MTSS is a benign, though painful, condition, and a common problem in the running athlete. It is prevalent among military personnel, runners, and dancers, showing an incidence of 4% to 35%. Common names for this problem include shin splints, soleus syndrome, tibial stress syndrome, and periostitis. The exact cause of this condition is unknown. Previous theories included an inflammatory response of the periosteum or periosteal traction reaction. More recent evidence suggests a painful stress reaction of bone. The most proven risk factors are hyperpronation of the foot, female sex, and history of previous MTSS. Patient evaluation is based on meticulous history taking and physical examination. Even though the diagnosis remains clinical, imaging studies, such as plain radiographs and bone scans are usually sufficient, although MRI is useful in borderline cases to rule out more significant pathology. Conservative treatment is almost always successful and includes several options; though none has proven more superior to rest. Prevention programs do not seem to influence the rate of MTSS, though shock-absorbing insoles have reduced MTSS rates in military personnel, and ESWT has shortened the duration of symptoms. Surgery is rarely indicated but has shown some promising results in patients who have not responded to all conservative options.

  9. Macrosomia, obesity, macrocephaly and ocular abnormalities (MOMO syndrome) in two unrelated patients: delineation of a newly recognized overgrowth syndrome.

    Science.gov (United States)

    Moretti-Ferreira, D; Koiffmann, C P; Listik, M; Setian, N; Wajntal, A

    1993-06-15

    We describe 2 unrelated patients, a boy and a girl, with an overgrowth syndrome and the following common characteristics: macrocrania, obesity, ocular abnormalities (retinal coloboma and nystagmus), downward slant of palpebral fissures, mental retardation, and delayed bone maturation. Both cases are of sporadic occurrence with no consanguinity between the parents. We suggest that this syndrome is due to a new autosomal dominant mutation and propose to designate it with the acronym of "MOMO syndrome" (Macrosomia, Obesity, Macrocrania, Ocular anomalities.

  10. BONES WITH BIOCERAMICS

    Directory of Open Access Journals (Sweden)

    Wijianto Wijianto

    2017-01-01

    Full Text Available This paper discuss about ceramics in application as bone implant. Bioceramics for instance Hydroxyapatite, usually is abbreviated with HA or HAp, is a mineral that is very good physical properties as bone replacement in human body. To produce Hydroxyapatite, coating process is used which have good potential as they can exploit the biocompatible and bone bonding properties of the ceramic. There are many advantages and disadvantages of bioceramics as bone implant. Advantages of hydroxyapatite as bone implant are rapidly integrated into the human body, and is most interesting property that will bond to bone forming indistinguishable unions. On contrary, disadvantages of hydroxyapatite as bone implant are poor mechanical properties (in particular fatigue properties mean that hydroxyapatite cannot be used in bulk form for load bearing applications such as orthopaedics and poor adhesion between the calcium phosphate coating and the material implant will occur.

  11. Bone scintiscanning updated.

    Science.gov (United States)

    Lentle, B C; Russell, A S; Percy, J S; Scott, J R; Jackson, F I

    1976-03-01

    Use of modern materials and methods has given bone scintiscanning a larger role in clinical medicine, The safety and ready availability of newer agents have led to its greater use in investigating both benign and malignant disease of bone and joint. Present evidence suggests that abnormal accumulation of 99mTc-polyphosphate and its analogues results from ionic deposition at crystal surfaces in immature bone, this process being facilitated by an increase in bone vascularity. There is, also, a component of matrix localization. These factors are in keeping with the concept that abnormal scintiscan sites represent areas of increased osteoblastic activity, although this may be an oversimplification. Increasing evidence shows that the bone scintiscan is more sensitive than conventional radiography in detecting focal disease of bone, and its ability to reflect the immediate status of bone further complements radiographic findings. The main limitation of this method relates to nonspecificity of the results obtained.

  12. Bone disease in diabetes

    DEFF Research Database (Denmark)

    Shanbhogue, Vikram V.; Hansen, Stinus; Frost, Morten

    2017-01-01

    Type 1 and type 2 diabetes are generally accepted to be associated with increased bone fracture risk. However, the pathophysiological mechanisms of diabetic bone disease are poorly understood, and whether the associated increased skeletal fragility is a comorbidity or a complication of diabetes...... remains under debate. Although there is some indication of a direct deleterious effect of microangiopathy on bone, the evidence is open to question, and whether diabetic osteopathy can be classified as a chronic, microvascular complication of diabetes remains uncertain. Here, we review the current...... knowledge of potential contributory factors to diabetic bone disease, particularly the association between diabetic microangiopathy and bone mineral density, bone structure, and bone turnover. Additionally, we discuss and propose a pathophysiological model of the effects of diabetic microvascular disease...

  13. Primary haemophagocytic syndrome in a young girl.

    Science.gov (United States)

    Sasidharan, P K; Prasanth Varghese, C; Sandeep, P; Sreejith, R; Shaan, Mohammed; Shiji, P V; Satish, H; Feroz, M

    2011-01-01

    Haemophagocytic syndrome is a life-threatening systemic illness characterized by an uncontrolled inflammatory response. Patients present with fever, hepatosplenomegaly, jaundice and liver dysfunction, neurological manifestations and often pancytopenla. Bone marrow, lymph node, hepatic or splenic biopsy shows macrophages with Ingested blood cells or their precursors. Laboratory markers include elevated triglycerides and ferritin, low fibrinogen with normal or low erythrocyte sedimentation rate (ESR). Familial haemophagocytic lymphohistiocytosis (HLH) is an autosomal recessive disorder. Secondary haemophagocytic syndrome results from infections, malignancy and collagen vascular disorders. We describe a young girl with primary haemophagocytic syndrome.

  14. Diabetes, Biochemical Markers of Bone Turnover, Diabetes Control, and Bone

    OpenAIRE

    Starup-Linde, Jakob

    2013-01-01

    Diabetes mellitus is known to have late complications including micro vascular and macro vascular disease. This review focuses on another possible area of complication regarding diabetes; bone. Diabetes may affect bone via bone structure, bone density, and biochemical markers of bone turnover. The aim of the present review is to examine in vivo from humans on biochemical markers of bone turnover in diabetics compared to non-diabetics. Furthermore, the effect of glycemic control on bone marker...

  15. 论虹影自传体小说《饥饿的女儿》女性意识和写作意义%The female consciousness and the significance in Hongying's autobiographical novel"hungry daughter"

    Institute of Scientific and Technical Information of China (English)

    沈永英

    2013-01-01

    "Hungry daughter"is a representative work of the writer, the growth and self-identity journey of the hero of"LiuLiu"is Hong Ying to explore the female consciousness, has the characteristics of her privacy, while showing the true condition of generation living and the images of women groups, highlights the contemporary significance in her novels.%  虹影自传体小说《饥饿的女儿》是虹影的代表作品,主人公“六六”成长和自我认同的心路历程是虹影本人对女性意识的探索,具有少女的私密性的特点,同时展示一代人生存的真实境遇和低矮苍穹下的女性群体形象,凸显虹影小说创作的当下意义。

  16. ABR Audiometry in Cornelia De Lange Syndrome.

    Science.gov (United States)

    Brown, Denice P.

    Eight children (ages 13 days to 5 years) with a diagnosis of Cornelia de Lange syndrome received audiologic evaluation consisting of immittance audiometry and auditory brainstem response audiometry to air and bone conducted "click" stimuli, as behavioral testing was unreliable due to patient age and/or developmental delay. Developmental…

  17. ABR Audiometry in Cornelia De Lange Syndrome.

    Science.gov (United States)

    Brown, Denice P.

    Eight children (ages 13 days to 5 years) with a diagnosis of Cornelia de Lange syndrome received audiologic evaluation consisting of immittance audiometry and auditory brainstem response audiometry to air and bone conducted "click" stimuli, as behavioral testing was unreliable due to patient age and/or developmental delay. Developmental…

  18. Osteogenesis imperfecta with joint contractures: Bruck syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Blacksin, M.F. [Department of Radiology, University of Medicine and Dentistry of New Jersey, 150 Bergen St., Rm. C320, Newark, NJ 07103-2426 (United States); Pletcher, B.A. [Center for Human and Molecular Genetics, Department of Pediatrics, University of Medicine and Dentistry of New Jersey, Newark, New Jersey (United States); David, M. [Department of Radiology, Newark-Beth Israel Medical Center, Newark, New Jersey (United States)

    1998-02-01

    We describe an Egyptian boy with osteogenesis imperfecta who was born with thumb contractures and bilateral antecubital pterygia. He was seen at 16 months of age with femur and tibial fractures, thoracic vertebral compression fractures, scoliosis and Wormian bones. The findings are consistent with a diagnosis of Bruck syndrome. (orig.) With 1 fig., 5 refs.

  19. Behandling af ideopatisk hypereosinofilt syndrom med imatinib

    DEFF Research Database (Denmark)

    Sørensen, Anne Louise; Larsen, Herdis

    2008-01-01

    We here report a case of idiopathic hypereosinophilic syndrome with prompt response to treatment with imatinib. The patient presented with chest pain, myalgias, fatigue and weakness. Blood tests and bone marrow examination revealed striking eosinophilia. Clonal or reactive disorders were excluded...

  20. High-Dose Busulfan and High-Dose Cyclophosphamide Followed By Donor Bone Marrow Transplant in Treating Patients With Leukemia, Myelodysplastic Syndrome, Multiple Myeloma, or Recurrent Hodgkin or Non-Hodgkin Lymphoma

    Science.gov (United States)

    2010-08-05

    Accelerated Phase Chronic Myelogenous Leukemia; Adult Acute Lymphoblastic Leukemia in Remission; Adult Acute Megakaryoblastic Leukemia (M7); Adult Acute Monoblastic Leukemia (M5a); Adult Acute Monocytic Leukemia (M5b); Adult Acute Myeloblastic Leukemia With Maturation (M2); Adult Acute Myeloblastic Leukemia Without Maturation (M1); Adult Acute Myeloid Leukemia in Remission; Adult Acute Myeloid Leukemia With 11q23 (MLL) Abnormalities; Adult Acute Myeloid Leukemia With Del(5q); Adult Acute Myeloid Leukemia With Inv(16)(p13;q22); Adult Acute Myeloid Leukemia With T(15;17)(q22;q12); Adult Acute Myeloid Leukemia With T(16;16)(p13;q22); Adult Acute Myeloid Leukemia With T(8;21)(q22;q22); Adult Acute Myelomonocytic Leukemia (M4); Adult Acute Promyelocytic Leukemia (M3); Adult Erythroleukemia (M6a); Adult Nasal Type Extranodal NK/T-cell Lymphoma; Adult Pure Erythroid Leukemia (M6b); Anaplastic Large Cell Lymphoma; Angioimmunoblastic T-cell Lymphoma; Burkitt Lymphoma; Childhood Acute Erythroleukemia (M6); Childhood Acute Lymphoblastic Leukemia in Remission; Childhood Acute Megakaryocytic Leukemia (M7); Childhood Acute Monoblastic Leukemia (M5a); Childhood Acute Monocytic Leukemia (M5b); Childhood Acute Myeloblastic Leukemia With Maturation (M2); Childhood Acute Myeloblastic Leukemia Without Maturation (M1); Childhood Acute Myeloid Leukemia in Remission; Childhood Acute Myelomonocytic Leukemia (M4); Childhood Acute Promyelocytic Leukemia (M3); Childhood Chronic Myelogenous Leukemia; Childhood Myelodysplastic Syndromes; Chronic Phase Chronic Myelogenous Leukemia; Cutaneous B-cell Non-Hodgkin Lymphoma; De Novo Myelodysplastic Syndromes; Extranodal Marginal Zone B-cell Lymphoma of Mucosa-associated Lymphoid Tissue; Hepatosplenic T-cell Lymphoma; Intraocular Lymphoma; Nodal Marginal Zone B-cell Lymphoma; Peripheral T-Cell Lymphoma; Post-transplant Lymphoproliferative Disorder; Previously Treated Myelodysplastic Syndromes; Recurrent Adult Acute Lymphoblastic Leukemia; Recurrent