Unsuspected costo-vertebral fractures demonstrated by bone scanning in the child abuse syndrome

International Nuclear Information System (INIS)

Smith, F.W.; Gilday, D.L.; Ash, J.M.; Green, M.D.

1980-01-01

Many patterns of injury have been described in the child abuse syndrome. Until recently, all the bone manifestations of this syndrome have been diagnosed radiologically. Four cases of multiple costovertebral fracture diagnosed by bone scan are described and their etiology discussed. The use of bone scanning in identifying fractures which previously would have been missed is advocated. (orig.) [de

GORHAM-STOUT SYNDROME: PHANTOM BONE DISEASE.

Science.gov (United States)

El-Kouba, Gabriel; de Araújo Santos, Romilton; Pilluski, Paulo César; Severo, Antonio; Lech, Osvandré

2010-01-01

Gorham-Stout syndrome is a disease that presents idiopathic osteolysis of a bone or closely contiguous area. The etiology is unknown. It is a rare condition that is difficult to diagnose, and its treatment is controversial. It affects individuals irrespective of age or sex. In this study, we conducted a bibliographic review of the disease, specifically focusing on the differential diagnosis, and we demonstrated the follow-up on a patient with this syndrome from the time of its diagnosis, through treatment, to its current state of evolution.

Multiple long bone cysts revealed by MRI in trichorhinophalangeal syndrome type II predisposing to pathological fractures

Energy Technology Data Exchange (ETDEWEB)

Konala, Praveen; Cassar-Pullicino, Victor N. [The Robert Jones and Agnes Hunt Orthopaedic Hospital, Department of Radiology, Oswestry (United Kingdom); Kiely, Nigel [The Robert Jones and Agnes Hunt Orthopaedic Hospital, Department of Orthopaedic Surgery, Oswestry (United Kingdom); Noakes, Charlotte [Oxford University Hospital, The Oxford Genetics Laboratories, Oxford (United Kingdom); Blair, Edward [Oxford University Hospital, Department of Clinical Genetics, Oxford (United Kingdom)

2017-07-15

Trichorhinophalangeal syndrome type II is a rare genetic disorder with the few published case reports mainly reporting the radiographic skeletal manifestations. There are no published imaging reports of long bone cysts involving multiple bones in this condition. We report a unique case of bone cysts involving multiple long bones detected with MRI in a patient with trichorhinophalangeal syndrome type II complicated by a subsequent pathological fracture. It is possible that the bone cysts are a previously undescribed feature of this syndrome; however, the evidence is insufficient to establish a definite association. Chromosomal abnormality identified in this patient is consistent with trichorhinophalangeal syndrome type II with no unusual features. Although the nature of these bone cysts is unclear, they are one of the causes of the known increased fracture risk observed in this syndrome. (orig.)

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...

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...

Bone lesions in Chinese POEMS syndrome patients: imaging characteristics and clinical implications

Directory of Open Access Journals (Sweden)

Fengdan Wang

2016-08-01

Full Text Available Objective. Bone lesion is crucial for diagnosing and management of polyneuropathy, organomegaly, endocrinopathy, monoclonal protein, and skin change (POEMS syndrome, a rare plasma cell disorder. This study is to compare the effectiveness of X-ray skeletal survey (SS and computed tomography (CT for detecting bone lesions in Chinese POEMS syndrome patients, and to investigate the relationship between bone lesion features and serum markers. Methods. SS and chest/abdomen/pelvic CT images of 38 Chinese patients (26 males, 12 females, aged 21–70 years with POEMS syndrome recruited at our medical center between January 2013 and January 2015 were retrospectively analyzed. Bone lesions identified by CT were further categorized according to the size (10 mm and appearance (osteosclerotic, lytic, mixed. The percentage of plasma cells in bone marrow smears, type of immunoglobulin, platelet (Plt, and levels of serum bone metabolic markers and inflammatory factors including alkaline phosphatase (ALP, calcium, phosphate, parathyroid hormone (PTH, beta-isomerized C-telopeptide (β-CTx, vascular endothelial growth factor (VEGF, and interleukin (IL-6 levels were also recorded. Results. Of the 38 POEMS syndrome patients, the immunoglobulin heavy chain isotypes were IgA in 25 patients (65.8%; 25/38 and IgG in 13 patients (34.2%; 13/38, and the light chain isotypes were λ in 35 patients (92.1%; 35/38 and κ in 3 patients (7.9%; 3/38. There were 23 patients with thrombocytosis. More patients with bone lesions were detected by CT than by SS (97.4% vs. 86.8%. The most commonly affected location was the pelvis (89.5%, followed by the spine, clavicle/scapula/sternum/ribs, skull, and long bones. Of the 38 POEMS syndrome patients, 35 (94.6% had osteosclerotic and 32 (86.5% had mixed lesions. Osteosclerotic lesions were typically scattered, variable in size, and plaque-like, whereas mixed lesions were pouch-shaped or soup bubble-like with a clear sclerotic margin and were

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. Copyright © 2011 American Society for Bone and Mineral Research.

GORHAM-STOUT SYNDROME: PHANTOM BONE DISEASE

Science.gov (United States)

El-Kouba, Gabriel; de Araújo Santos, Romilton; Pilluski, Paulo César; Severo, Antonio; Lech, Osvandré

2015-01-01

Gorham-Stout syndrome is a disease that presents idiopathic osteolysis of a bone or closely contiguous area. The etiology is unknown. It is a rare condition that is difficult to diagnose, and its treatment is controversial. It affects individuals irrespective of age or sex. In this study, we conducted a bibliographic review of the disease, specifically focusing on the differential diagnosis, and we demonstrated the follow-up on a patient with this syndrome from the time of its diagnosis, through treatment, to its current state of evolution. PMID:27026974

Hungry Cities Initiative: Informality, Inclusive Growth, and Food ...

International Development Research Centre (IDRC) Digital Library (Canada)

Hungry Cities Initiative: Informality, Inclusive Growth, and Food Security in ... Within this context, the urban food economy is an important laboratory for ... The International Partnerships for Sustainable Societies program is funding this project.

Bone metastasis in patients with para neoplastic myasthenic syndrome - Possible indication for bone scintigraphy

International Nuclear Information System (INIS)

Chirion, Cristina; Stanescu, D.A.; Draganescu, Sandina; Ion, Virginia

2004-01-01

Full text: Myasthenia gravis (MG) is a neuromuscular disorder caused by a decrease in the number of acetylcholine receptors at neuromuscular junctions and consequently characterized by weakness and fatigue. Paraneoplastic myasthenic syndrome (PMS) is a neurological disorder often difficult to diagnose in clinical practice, due to the lack, in most cases, of any sign of malignancy at the time when neurological impairment occurs. The connection between MG and pathological alterations of the thymus as well as between the presynaptic membrane alteration (Lambert-Eaton myasthenic syndrome) and the small-cell lung cancer is often demonstrated. Most researchers agree that myasthenic syndrome noticed in aged persons should be investigated as a possible paraneoplastic disorder. The aim of our study was to find if suspected PMS could be an indication to perform a bone scan, in presence of parameters suggesting malignancy (such as elevated serum levels of alkaline phosphatase, elevated tumor markers, unexplained bone pain etc.). Another question is whether bone metastases occur more frequently in malignancies associated with PMS than in the same diseases without neurological involvement, taking into account that neurological disorders are not produced by metastatic or direct invasion of the nervous system by the cancer. Our observations included 28 patients (13 men and 15 women), aged 42-80 years with myasthenic syndrome, who were referred by the neurology department for suspicion of bone metastasis. All patients had elevated serum levels of alkaline phosphatase, 18 patients had therapy-resistant bone and joints pain. Conventional imaging procedures (abdominal ultrasound, chest X-ray and computer tomography) were performed in all patients. Only in 6 patients the primary malignancy was diagnosed prior to bone scan (5 cases with thymoma and 1 case of digestive neoplasm). Bone scan was performed on a Diacam Siemens gamma camera and consisted of whole-body examination after

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

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...

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....

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...... 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....

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...

The relationship between low bone mass and metabolic syndrome in Korean women.

Science.gov (United States)

Hwang, D-K; Choi, H-J

2010-03-01

We examined the relationship between low bond mass and metabolic syndrome in 2,475 Korean women. After adjustment for all covariates, mean vertebral BMD was significantly lower in women with metabolic syndrome. Moreover, age and weight adjusted vertebral BMD was significantly decreased with additional components of the metabolic syndrome. Obesity-induced chronic inflammation is a key component in the pathogenesis of insulin resistance and metabolic syndrome. It has been suggested that proinflammatory cytokines and low-grade systemic inflammation activate bone resorption and may lead to reduced bone mineral density (BMD). The objective of this study was to determine the relationship between low bone mass and metabolic syndrome in Korean women. This is a cross-sectional study of 2,548 women aged 18 years and over who had visited the Health Promotion Center. Physical examination and laboratory tests were performed. Vertebral BMD was measured using dual-energy X-ray absorptiometry. Metabolic syndrome was defined by National Cholesterol Education Program-Adult Treatment Panel III criteria. Among 2,475 women, 511 (21.0%) women had metabolic syndrome. Women with abdominal obesity or hypertriglyceridemia had significantly lower vertebral BMD than women without respective components after adjustment for age, weight, and height. After adjustment for all covariates, mean vertebral BMD was significantly lower in women with metabolic syndrome (p = 0.031). Moreover, age- and weight-adjusted vertebral BMD were significantly decreased with additional components of the metabolic syndrome (p = 0.004). These findings suggest that metabolic syndrome might be another risk factor for osteoporosis and related fractures.

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.

Bone involvement in adult patients affected with Ehlers-Danlos syndrome.

Science.gov (United States)

Eller-Vainicher, C; Bassotti, A; Imeraj, A; Cairoli, E; Ulivieri, F M; Cortini, F; Dubini, M; Marinelli, B; Spada, A; Chiodini, I

2016-08-01

The Ehlers-Danlos syndrome is characterized by abnormal connective tissue but bone involvement is debated. We found a reduced BMD and bone quality and increased prevalence of asymptomatic vertebral fractures in eugonadal patients with Ehlers-Danlos syndrome. These findings suggest the need of a bone health evaluation in these patients. The Ehlers-Danlos (EDS) syndrome is characterized by abnormalities of the connective tissue leading to ligamentous laxity and skin and tissue fragility. We evaluated the bone metabolism, bone mineral density (BMD) and bone quality (measured by trabecular bone score, TBS), and the prevalence of vertebral fractures (VFx) in a group of eugonadal adult EDS patients. Fifty consecutive Caucasian patients, aged 30-50 years (36 females, 14 males) with classical or hypermobility EDS and 50 age-, gender-, and body mass index (BMI)-matched control subjects were enrolled. In all subjects' calcium-phosphorous metabolism, bone turnover, BMD at the lumbar spine (LS) and femur (femoral neck, FN and total femur, FT) and TBS by dual-energy X-ray absorptiometry, and the VFx presence by spine radiograph were assessed. Patients showed reduced BMD (Z-scores LS -0.45 ± 1.00, FN -0.56 ± 1.01, FT -0.58 ± 0.92) and TBS (1.299 ± 0.111) and increased prevalence of morphometric VFx (32 %) than controls (Z-scores LS 0.09 ± 1.22, FN 0.01 ± 0.97, FT 0.08 ± 0.89; TBS 1.382 ± 0.176; VFx 8 %, p <0.05 for all comparisons), while vitamin D levels, calcium-phosphorous metabolism, and bone turnover were comparable. Fractured EDS patients showed lower TBS values than non-fractured ones (1.245 ± 0.138 vs 1.325 ± 0.086, p < 0.05), despite comparable BMD. In EDS patients, the VFx presence was significantly associated with TBS even after adjusting for sex, age, BMD, EDS type, and falls frequency. EDS patients have reduced BMD and bone quality (as measured by TBS) and increased prevalence of VFx.

Impact of endocrine hyperfunction and phosphate wasting on bone in McCune-Albright syndrome.

Science.gov (United States)

Lala, R; Matarazzo, P; Andreo, M; Defilippi, C; de Sanctis, C

2002-01-01

Skin dysplasia, as café-au-lait spots, bone fibrous dysplasia and peripheral endocrinopathies are the main clinical features of McCune-Albright syndrome (MAS). This illness is due to activating mutations of the Gsalpha protein and is spread with a mosaic pattern in affected tissues that consist of intermixed areas of normal and mutated cells. Peripheral endocrine secretion, free of hypothalamic pituitary control, is the hallmark of the endocrine syndromes: precocious puberty, Cushing's syndrome, hyperthyroidism and gigantism/acromegaly. In addition, phosphate wasting as hyperphosphaturia is often present. The impact of hormonal hypersecretion and phosphate loss on the bones of patients with MAS is poorly understood both in normal and fibrous bone tissue. As hypercortisolism and hyperthyroidism increase bone resorption, hyperestrogenism and growth hormone hypersecretion stimulate bone growth and mineralization, and phosphate wasting reduces bone mineral content. All these actions can be exerted at varying times and degrees in a single patient on lesional and non-lesional bones. Sonographic evidence of multiple diffused hyperechogenic spots in the testes of patients with MAS do not seem to be related to alterations in calcium-phosphate metabolism but rather to zonal dysplasia/hyperplasia of testicular tissue.

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.

Widespread osteolytic lesions of the long bones in basal cell nevus syndrome

International Nuclear Information System (INIS)

Blinder, G.; Barki, Y.; Bar-Ziv, J.; Pezt, M.

1984-01-01

Three members of a family, father, daughter, and son, with the basal cell nevus syndrome are presented. A very unusual manifestation of widespread cyst-like osteolytic lesions in all the tubular bones was observed in the father, together with osteoblastic spotty 'osteopoikilotic' lesions in the skull and the mandible of the same patient. Cyst-like osteolytic lesions have been described previously in this syndrome, mainly in the phalanges. We believe that such lesions can occur in any bone. (orig.)

Of blood, bones, and ribosomes: is Swachman-Diamond syndrome a ribosomopathy?

Science.gov (United States)

Johnson, Arlen W; Ellis, Steve R

2011-05-01

Mutations in the human SBDS (Shwachman-Bodian-Diamond syndrome) gene are the most common cause of Shwachman-Diamond syndrome, an inherited bone marrow failure syndrome. In this issue of Genes & Development, Finch and colleagues (pp. 917-929) establish that SBDS functions in ribosome synthesis by promoting the recycling of eukaryotic initiation factor 6 (eIF6) in a GTP-dependent manner. This work supports the idea that a ribosomopathy may underlie this syndrome.

Of blood, bones, and ribosomes: is Swachman-Diamond syndrome a ribosomopathy?

OpenAIRE

Johnson, Arlen W.; Ellis, Steve R.

2011-01-01

Mutations in the human SBDS (Shwachman-Bodian-Diamond syndrome) gene are the most common cause of Shwachman-Diamond syndrome, an inherited bone marrow failure syndrome. In this issue of Genes & Development, Finch and colleagues (pp. 917–929) establish that SBDS functions in ribosome synthesis by promoting the recycling of eukaryotic initiation factor 6 (eIF6) in a GTP-dependent manner. This work supports the idea that a ribosomopathy may underlie this syndrome.

Mechanical and morphological properties of trabecular bone samples obtained from third metacarpal bones of cadavers of horses with a bone fragility syndrome and horses unaffected by that syndrome.

Science.gov (United States)

Symons, Jennifer E; Entwistle, Rachel C; Arens, Amanda M; Garcia, Tanya C; Christiansen, Blaine A; Fyhrie, David P; Stover, Susan M

2012-11-01

To determine morphological and mechanical properties of trabecular bone of horses with a bone fragility syndrome (BFS; including silicate-associated osteoporosis). Cylindrical trabecular bone samples from the distal aspects of cadaveric third metacarpal bones of 39 horses (19 horses with a BFS [BFS bone samples] and 20 horses without a BFS [control bone samples]). Bone samples were imaged via micro-CT for determination of bone volume fraction; apparent and mean mineralized bone densities; and trabecular number, thickness, and separation. Bone samples were compressed to failure for determination of apparent elastic modulus and stresses, strains, and strain energy densities for yield, ultimate, and failure loads. Effects of BFS and age of horses on variables were determined. BFS bone samples had 25% lower bone volume fraction, 28% lower apparent density, 18% lower trabecular number and thickness, and 16% greater trabecular separation versus control bone samples. The BFS bone samples had 22% lower apparent modulus and 32% to 33% lower stresses, 10% to 18% lower strains, and 41 % to 52% lower strain energy densities at yield, ultimate, and failure loads, compared with control bone samples. Differences between groups of bone samples were not detected for mean mineral density and trabecular anisotropy. Results suggested that horses with a BFS had osteopenia and compromised trabecular bone function, consistent with bone deformation and pathological fractures that develop in affected horses. Effects of this BFS may be systemic, and bones other than those that are clinically affected had changes in morphological and mechanical properties.

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.

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.

Metabolic Syndrome and Bone: Pharmacologically Induced Diabetes has Deleterious Effect on Bone in Growing Obese Rats.

Science.gov (United States)

Bagi, Cedo M; Edwards, Kristin; Berryman, Edwin

2017-12-01

Metabolic syndrome and osteoporosis share similar risk factors. Also, patients with diabetes have a higher risk of osteoporosis and fracture. Liver manifestations, such as non-alcoholic steatohepatitis (NASH), of metabolic syndrome are further aggravated in diabetics and often lead to liver failure. Our objective was to create a rat model of human metabolic syndrome and determine the long-term impact of early-onset T1D on bone structure and strength in obese growing rats. Male rats were given either standard chow and RO water (Controls) or a high-fat, high-cholesterol diet and sugar water containing 55% fructose and 45% glucose (HFD). A third group of rats received the HFD diet and a single dose of streptozotocin to induce type 1 diabetes (HFD/Sz). Body weight and glucose tolerance tests were conducted several times during the course of the study. Serum chemistry, liver enzymes, and biomarkers of bone metabolism were evaluated at 10 and 28 weeks. Shear wave elastography and histology were used to assess liver fibrosis. Cancellous bone structure and cortical bone geometry were evaluated by mCT and strength by the 3-point bending method. Body mass and fat accumulation was significantly higher in HFD and HFD/Sz rats compared to Controls. Rats in both the HFD and HFD/Sz groups developed NASH, although the change was more severe in diabetic rats. Although both groups of obese rats had larger bones, their cancellous structure and cortical thickness were reduced, resulting in diminished strength that was further aggravated by diabetes. The HFD and HFD/Sz rats recapitulate MeSy in humans with liver pathology consistent with NASH. Our data provide strong indication that obesity accompanied by type 1 diabetes significantly aggravates comorbidities of MeSy, including the development of osteopenia and weaker bones. The juvenile rat skeleton seems to be more vulnerable to damage imposed by obesity and diabetes and may offer a model to inform the underlying pathology associated

Different findings in bone scintigraphy between ulnar impaction syndrome and Kienbock's disease

International Nuclear Information System (INIS)

Chung, J.K.; Lee, H.Y.; Lee, M.C.; Baik, G.H.

2002-01-01

Objectives: There is an ethnic variance on the length of the ulnar and radius. In Caucasian the length of the radius is relatively longer than the ulnar, but in Oriental the length of the ulnar is longer. This difference results in the different ethnic prevalence of ulnar impaction syndrome and Kienbock's disease, avascular necrosis of the lunate. It is important to differentiate ulnar impaction syndrome from Kienbock's disease, because they show similar symptoms but need different treatment and different method of operation. Methods: Seventeen patients with the wrist pain were enrolled in this study (mean age: 45+/-13yrs M:F=12:5). Nine patients were diagnosed as Kienbock's disease and Eight patients were diagnosed as ulnar impaction. Three to four hours after injection of 20mCi of Tc-99m MDP, bone scintigraphy images of the both hands were obtained and analyzed visually. Results: In Kienbock's disease, 8 patients showed increased uptake in the lunate with or without other carpal bones. One patient showed photon defect in the lunate. Otherwise in all patients with ulnar impaction syndrome, increased uptakes were found in the lunate, with or without increase uptake in the triquetrum or the distal ulnar, which are related to triangular fibrocartilage complex. Pin hole scintigraphy and pin hole SPECT demonstrated more precise structure of the wrist. Conclusion: We could differentiate ulnar impaction syndrome from Kienbock's disease in bone scan. We should carefully evaluate bone scintigraphic findings in patients with wrist pain

Bone marrow edema syndrome

International Nuclear Information System (INIS)

Korompilias, Anastasios V.; Lykissas, Marios G.; Beris, Alexandros E.; Karantanas, Apostolos H.

2009-01-01

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.)

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

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

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

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,…

Schnitzler's syndrome: an unusual cause of bone pain with suggestive nuclear imaging features

International Nuclear Information System (INIS)

Raedt, N. de; Mortelmans, L.

2009-01-01

Schnitzler's syndrome is a rare inflammatory disorder characterised by chronic urticarial rash and monoclonal IgM gammopathy accompanied by at least two of the following features: fever, arthralgia or arthritis, bone pain, lymphadenopathy, hepato- or splenomegaly, leucocytosis and elevated sedimentation. The association of these clinical and biological features with radiographic and bone scan findings are suggestive of the disease. The case of a 37-year-old man presenting with Schnitzler's syndrome, emphasizing nuclear imaging features is reported here. (N.C.)

Bone marrow MRI in patients with myelodysplastic syndromes

International Nuclear Information System (INIS)

Chen Zhao; Guo You; Wang Renfa; Zou Mingli; Liu Wenli; Xia Liming; Wang Chengyuan

2004-01-01

Objective: To observe the MR imaging of bone marrow in myelodysplastic syndromes (MDS) and acute myeloid leukemia (AML), and to reveal the rule of bone marrow infiltration and the role of MRI in diagnosing and predicting the prognosis of myelodysplastic syndromes. Methods: Thirty patients received MRI after the diagnosis based on clinic and FAB subtype study, including 16 with MDS and 14 with AML. MR image was obtained by T 1 -weighted spin echo and shot time inversion recovery in pelvis and femur. The examining results of morphology and blood routine were collected at the same time. 30 age-matched volunteers were selected as controls. Results: The MRI appearance was classified into their patterns based on scope of focus. MRI patterns from grade 1 to grade 3 was observed in patients with MDS. All patients with AML distributed in grade 2 to grade 3. The distribution of patterns had no significant difference between MDS and AML (P>0.05). The marrow ratio had significant difference among MDS, AML, and controls (P<0.05). The MRI grade was consistent with the clinic diagnostic indexes. Conclusion: MRI can provide a better understanding of the difference between MDS and AML. MRI can estimate the extent of disease in the marrow as a whole. MRI of bone marrow can provide imaging basis in diagnosis and predicting the prognosis for patients with MDS

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.

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

International Nuclear Information System (INIS)

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

1985-01-01

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. (orig./WL)

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.

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

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

International Nuclear Information System (INIS)

Kozlowski, K.; Kan, A.; Royal Alexandra Hospital for Children, Sydney

1988-01-01

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. (orig.)

Bone scan and red blood cell scan in a patient with epidermal naevus syndrome

International Nuclear Information System (INIS)

Becker, W.; Wolf, F.; Stosiek, N.; Peters, K.P.

1990-01-01

A bone scan and red blood cell scan in the rare epidermal naevus syndrome, associated with multiple haemangiomes of the bone and hypophosphataemic osteomalacia in a 20-year-old man are reported. The typical pattern of osteomalacia on the bone scan was associated with lesions of increased bone metabolism in the peripheral bones. The haemangiomas did not pool labelled red blood cells. Thus, the bone scan seems to be suited for diagnosing the complete extent of haemangiomas in bone, but they could not be specifically proven by red blood cell pooling. (orig.)

Nutritive and replacement value of hungry rice ''Acha'' ( Digitaria ...

African Journals Online (AJOL)

The hungry rice grains (HG) were determined for nutrients and anti nutrients and evaluated for growth performance. Five dietary diets were formulated with AG replacing maize at 0, 25, 50, 75 and 100 %. A total of 150 7days-old broiler chicks (Abor-Acre) were randomly allotted to five treatments of 30 birds each, replicated ...

Anophthalmia, cleft lip/palate, absent vomer bone, nystagmus, and mental-motor retardation: a new syndrome or Fryns "anophthalmia-plus" syndrome?

Science.gov (United States)

Ozçelik, Derya; Sağlam, Ibrahim; SIlan, Fatma; Sezen, Gülbin; Unveren, Toygar

2008-05-01

We report that a 4-year-old boy presented with right unilateral complete cleft lip and palate, right anophthalmos, left congenital nystagmus, absence of the vomer bone, mental-motor retardation, and normal lymphocyte karyotype (46, XY). For reconstruction of the deformities, we performed cleft lip repair by Millard's rotation-advancement technique and planned cleft palate repair. This combination of cleft lip and palate, anophthalmos, congenital nystagmus, absent vomer bone, and mental-motor retardation has not, to our knowledge, previously been described. We suggest that this represents either another case of the rare Fryns "anophthalmia-plus" syndrome or a new syndrome.

Osteoporosis associated with pulmonary silicosis in an equine bone fragility syndrome.

Science.gov (United States)

Arens, A M; Barr, B; Puchalski, S M; Poppenga, R; Kulin, R M; Anderson, J; Stover, S M

2011-05-01

California horses incur a bone fragility syndrome manifested by pathologic fractures. This study investigated gross, radiographic, and histologic features of the disorder as well as relationships with silicosis and levels of heavy metals and trace minerals through a postmortem study of 9 affected and 3 unaffected horses. Bones and soft tissues were evaluated grossly and histologically. Bones, lymph nodes, and lung tissue were evaluated radiographically. Tissues were evaluated for silicon levels, intracytoplasmic crystals, heavy metals, and trace minerals. All 9 affected horses had osteoporosis and clinical or subclinical pulmonary disease due to silicosis (8/9) or pneumoconiosis (1/9). All affected horses had radiographic findings consistent with osteopenia and histologic evidence of osteoporosis characterized by osteopenia, numerous resorption cavities, cement lines, and a mosaic lamellar pattern indicative of multiple remodeling events. Silicosis was characterized by widespread pulmonary granuloma formation with fibrosis; variable tracheobronchiolar and mediastinal granulomatous lymphadenitis; intracellular crystals within lung and lymph node macrophages; and pronounced lymph node fibrosis, focal necrosis, and dystrophic calcification. Crystals in lung (6/9) and lymph node (8/9) tissues were identified as cytotoxic silica dioxide polymorphs. Lung and liver tissue from affected horses had elevated levels of elemental silicon. Osteoporosis was highly correlated (r = 0.8, P horses with bone fragility disorder have systemic osteoporosis associated with fibrosing pulmonary silicosis. The etiopathogenesis of the bone fragility syndrome is unknown; however, this study provides circumstantial evidence for a silicate associated osteoporosis.

Transient Bone Marrow Edema Syndrome (Case Report

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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.

Bone Mineral Status in Children and Adolescents with Klinefelter Syndrome

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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.

Intramuscular myxoma and fibrous dysplasia of bone - Mazabraud's syndrome

International Nuclear Information System (INIS)

Court-Payen, M.; Ingemann Jensen, L.; Bjerregaard, B.; Schwarz Lausten, G.; Skjoldbye, B.

1997-01-01

We present a case of Mazabroud's syndrome, a rare benign disease, with multiple intramuscular myxomas of the thoracic wall associated with fibrous dysplasia of bone. CT, MR imaging and ultrasonography (US) of the thorax showed 2 well circumscribed homogeneous intramuscular tumors. A US-guided needle biopsy with a large-core needle (2.0 mm) and a fine needle (0.8 mm) showed that the tumors were intramuscular myxomas with no sign of malignancy. 99m Tc bone scintigraphy showed a markedly increased uptake in the right lower skull, and multiple smaller foci. CT of the skull revealed a right-sided unilateral bone thickening of the orbit and the ethomoidal cells, and right-sided exophthalmia. This case history suggests that patients with multiple intramuscular myxomas should be preoperatively examined for osseous lesions. A postoperative follow-up should also be performed to detect other soft-tissue myxomas not as yet clinically detectable, or rare osseous complications. (orig.)

Exceptional bone metastasis of basal cell carcinoma in Gorlin-Goltz syndrome.

Science.gov (United States)

Lamon, Tatiana; Gerard, Stephane; Meyer, Nicolas; Losfeld, Benjamin; Abellan van Kan, Gabor; Balardy, Laurent; Vellas, Bruno

2010-01-01

Basal cell carcinoma (BCC), the most prevalent form of cancer worldwide, is a malignant skin neoplasm. It is locally invasive, with an exceptional incidence of reported metastasis. It can also be part of the Gorlin-Goltz syndrome, an autosomal dominant genetic disorder with high penetrance and variable expressivity, which is principally characterized by cutaneous BCC, odontogenic keratocysts, palmar and/or plantar pits, and falx cerebri calcification. We report the exceptional clinical observation of a 54-year-old man presenting bone metastasis from BCC in Gorlin-Goltz syndrome. Less than 300 cases of metastatic BCC have been reported in the literature. The present case is the second associated with Gorlin-Goltz syndrome. Copyright 2009 S. Karger AG, Basel.

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...

Environmental assessment and finding of no significant impact: Hungry Horse--Columbia Falls line rebuild and relocation project

International Nuclear Information System (INIS)

1993-09-01

Bonneville Power Administration (BPA) has identified a need to rebuild the Hungry Horse-Columbia Falls 115,000-volt (115-kV) transmission line to 230-kV. This line supplies power to customers in the area of Columbia Falls, Montana, and integrates generation at the US Bureau of Reclamation's (USBR) Hungry Horse Dam into BPA's transmission grid. There are several problems with the existing system. The Hungry Horse-Columbia Falls 1 15-kV line is 45 years old and requires excessive maintenance. The USBR has decided to replace their aging 115-kV transformers at the dam with 230-kV transformers, which also would increase their operational flexibility. With the small conductor size and voltage of the line presently being used, significant amounts of energy are lost as the power moves across the line. Transformer failure at Hungry Horse Dam has led to joint planning between BPA and the USBR. (USBR and the US Forest Service are cooperating agencies on the proposed project.) The proposal to eliminate the 115-kV equipment and convert to 230-kV operation was the least costly of the options studied. By rebuilding the line, maintenance costs (and time required for outages) would be reduced. The increased generation at the USBR dam would be safely and consistently transmitted over the improved system, and less energy would be lost from the line, a cost and energy savings

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

Directory of Open Access Journals (Sweden)

Subhrajit Saha

Full Text Available 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.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.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 intestinal growth factors and induces regeneration of the irradiated

Long-term hormone replacement therapy preserves bone mineral density in Turner syndrome

DEFF Research Database (Denmark)

Cleemann, Line; Hjerrild, Britta E; Lauridsen, Anna L

2009-01-01

CONTEXT: Reduced bone mineral density (BMD) and increased risk of fractures are present in many women with Turner syndrome (TS). OBJECTIVE: Examine longitudinal changes in BMD in TS and relate changes to biochemical parameters. DESIGN: Prospective, pragmatic, and observational study. Examinations...

Annual air pollution caused by the Hungry Ghost Festival.

Science.gov (United States)

Khezri, B; Chan, Y Y; Tiong, L Y D; Webster, R D

2015-09-01

Burning of joss paper and incense is still a very common traditional custom in countries with a majority Chinese population. The Hungry Ghost Festival which is celebrated in the 7 month of the Chinese calendar is one of the events where joss paper and incense are burned as offerings. This study investigates the impact of the Ghost Month Festival (open burning event) on air quality by analysis of the chemical composition of particulate matter (PM) and rainwater samples collected during this event, compared with data collected throughout the year, as well as bottom ash samples from burning the original joss paper and incense. The results showed that the change in the chemical composition of the rainwater and PM2.5 (PM ≤ 2.5 μm) atmospheric samples could be correlated directly with burning events during this festival, with many elements increasing between 18% and 60% during August and September compared to the yearly mean concentrations. The order of percentage increase in elemental composition (in rain water and PM2.5) during the Hungry Ghost Festival is as follows: Zn > Ca > K > Mg > Fe > Al > Na ∼ Mn ∼ Ti ∼ V > Cu > As > Ni > Co > Cd > Cr > Pb. The chemical composition of the original source materials (joss paper and incense for combustion) and their associated bottom ash were analysed to explain the impact of burning on air quality.

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.

Petrified ears in a patient with Keutel syndrome: temporal bone CT findings

International Nuclear Information System (INIS)

Parmar, Hemant; Blaser, Susan; Yoo, Shi-Joon; Unger, Sheila; Papsin, Blake

2006-01-01

We present unusual imaging findings of petrified ears in a 9-year-old girl with Keutel syndrome. The patient presented for a temporal bone study for hearing loss. CT scan showed middle and inner ear abnormalities along with extensive and unsuspected calcification of the external ears and ossicular ligaments. On further investigation, the patient was found to have diffuse cartilage calcification in the larynx and tracheobronchial tree, brachytelephalangism and peripheral pulmonary stenosis suggestive of Keutel syndrome. Confirmation was obtained by mutation analysis. (orig.)

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. Copyright © 2011 Elsevier Inc. All rights reserved.

Bone mineral density in adults with Down's syndrome

International Nuclear Information System (INIS)

Angelopoulou, N.; Souftas, V.; Mandroukas, K.; Sakadamis, A.

1999-01-01

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.)

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...

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

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

International Nuclear Information System (INIS)

Kirchhoff, Timm; Rosenthal, Herbert; Prokop, Mathias; Chavan, Ajay; Galanski, Michael; Merkesdal, Sonja; Wagner, Annette; Zeidler, Henning; Mai, Uwe; Hammer, Michael

2003-01-01

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.)

Aid as Obstacle: Twenty Questions about Our Foreign Aid and the Hungry.

Science.gov (United States)

Lappe, Frances Moore; And Others

Reasons why U.S. foreign aid fails to alleviate hunger and poverty are discussed and a solution to the problem is presented. The United States now channels more foreign aid than ever to the world's poor and hungry through the Agency for International Development, food aid programs, the World Bank, and other multilateral aid agencies, which report…

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

2016-01-01

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. PMID:27043559

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.

2020 Focus briefs on the world's poor and hungry people:

OpenAIRE

IFPRI

2007-01-01

Contents: 1.The Changing Profile of Poverty in the World/Shaohua Chen and Martin Ravallion. 2.Characteristics and Causes of Severe Poverty and Hunger/Akhter U. Ahmed, Ruth Vargas Hill, Lisa C. Smith, and Tim Frankenberger. 3.The Poorest and Hungry: Looking Below the Line/Akhter U. Ahmed, Ruth Vargas Hill, and Doris M. Wiesmann. 4.Mapping Where the Poor Live/Todd Benson, Michael Epprecht, and Nicholas Minot 5.Child Malnutrition in India and China/Peter Svedberg. 6.Poverty and the Globalization...

Bone paracoccidioidomycosis associated with acquired immunodeficiency syndrome: evaluation by radiological methods - a case report

International Nuclear Information System (INIS)

Maeda, Lucimara; Hara, Monica Hiromi; Sabedotti, Ismail Fernando; Montandon, Cristiano; Torriani, Martin; Nanni, Livio

1999-01-01

Paracoccidioidomycosis is a chronic granulomatous disease, caused by the Paracoccidioides brasiliensis fungus. This disease involves primarily the lungs, although disseminated forms may occur. Bone involvement is rare, and is associated to systemic disease or may present as a focal lesion. An association between paracoccidioidomycosis and the acquired immunodeficiency syndrome (AIDS) was first established in 1989. There are only a few reports on this association, and none of them was the fungus isolated from bone lesions. This is the first case report on the paracoccidioidomycosis-AIDS association in which bone lesions demonstrated infection by P. brasiliensis. The authors propose the inclusion of paracoccidioidomycosis in the differential diagnosis of lytic bone lesions in patients with AIDS and discuss the role of radiological diagnostic in this case. (author)

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...

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.

Vitamin D Content and the State of Bone Metabolism in Patients with Syndrome of Hyperthyroidism (Review of Literature

Directory of Open Access Journals (Sweden)

І.V. Pankiv

2016-10-01

Full Text Available The literature review presents data of researches on the content of vitamin D and the state of bone metabolism in patients with syndrome of hyperthyroidism. Overt hyperthyroidism is associated with accelerated bone remodeling, reduced bone density, osteoporosis, and an increase in fracture rate. Summarizing the results of the studies conducted by different authors, there should be noted the value of normal balance of thyroid hormones for a skeletogeny and providing bone mineral density.

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

Bone mineral density in children with Down's syndrome detected by dual photon absorptiometry

International Nuclear Information System (INIS)

Kao, C.H.; Chen, C.C.; Wang, S.J.; Yeh, S.H.

1992-01-01

Bone mineral density (BMD) in ten children with Down's syndrome (seven boys, three girls; aged 10-16 years) was measured by dual photon absorptiometry (DPA) using an M and SE Osteo Tech 300 scanner. The BMD of the 2nd to 4th lumbar vertebrae was measured and the mean density presented as g cm -2 . The BMD of Down's syndrome was compared with the BMD of normal Chinese children of the same age group. The results showed that the BMD in Down's syndrome was significantly lower compared to that found in normal children. The percentage of decreased BMD is 8.47 ± 2.69% (mean ± 1 S.E.M.) in Down's syndrome compared to normal children of the same age group. The distribution curve of BMD against ages in Down's syndrome has a delay of 2.3 ± 0.5 (mean ± 1 S.E.M.) years compared to normal children. In our conclusion, the children with Down's syndrome have lower BMD than the normal children of the same age group. (Author)

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.

Risk factors for low bone density in pediatric nephrotic syndrome

Directory of Open Access Journals (Sweden)

Corina Lisa

2011-04-01

Full Text Available Background Disturbances in bone mineral metabolism and side effects of corticosteroid treatment may cause decreased bone density in patients v.ith nephrotic syndrome (NS. Objectives To compare the prevalence oflow bone mineral density (BMD in children with and 'Without NS and to assess the effect of corticosteroid treatment on bone density in NS patients.  Methods We conducted a retrospective, cohort study in children aged 5-18 years diagnosed 'With NS for more than 2 months prior to data collection, and in children v.ithout NS as a control. BMD was assessed on calcaneal bone wlith ultrasound bone densitometry. Serum calcium, albumin, creatinine and phosphate levels were also assessed. Results The prevalence of low BMD was significantly higher in NS patients than nonNS subjects, 73.3% (22 in 30 vs. 33% (11 in 33, respectively. The prevalence ratio was 6.3 (95% CI 2.1 to 18.9. NS patients had lower serum calcium levels, With mean difference of -0.17 (95% CI -0.27 to -0.07 mMollL, P<0.009, and lower serum albumin, with mean difference of  -0.88 (95% CI -1.27 to -0.49 gIL; Pbone density.

Reversible posterior leucoencephalopathy syndrome associated with bone marrow transplantation.

Science.gov (United States)

Teive, H A; Brandi, I V; Camargo, C H; Bittencourt, M A; Bonfim, C M; Friedrich, M L; de Medeiros, C R; Werneck, L C; Pasquini, R

2001-09-01

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.

Unusual facies, arthrogryposis, advanced skeletal maturation and unique bone changes. A new congenital malformation syndrome

Energy Technology Data Exchange (ETDEWEB)

Jequier, S.; Kozlowski, K.

1987-07-01

Two strikingly similar infant siblings showed the following pattern of anomalies: unusual cranio-facial appearance, arthrogryposis, advanced bone age of the hips and unique skeletal X-ray abnormalities. They represent a previously unrecognised, fatal malformation syndrome.

Influence of antibacterial therapy on bone scan indices at foot inflammation in diabetes mellitus accompanied by diabetic foot syndrome

International Nuclear Information System (INIS)

Slavnov, V.M.; Bolgars'ka, S.V.; Taran, E.V.; Markov, V.V.

2004-01-01

The influence of antibacterial therapy on bone scan indices at foot inflammation in patients with diabetes mellitus (DM) accompanied by diabetic foot syndrome was studied. Bone scan was performed using scintillation tomographic gamma-camera hours after intravenous injection of 99m Tc-methylene diphosphonate

Migratory Bone Marrow Edema Syndrome of the Hips: A Case Report

Directory of Open Access Journals (Sweden)

Santoso A

2017-11-01

Full Text Available Migratory bone marrow edema syndrome (BMES of the hip is a rare entity. We report the case of a 41-year old male with migratory BMES of the hip with eight months interval period between onset of the pain and consultation. This patient was successfully treated non-surgically. It is important to always inform the patient with unilateral BMES of the hip regarding the possibility of future involvement of the contralateral hip.

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.)

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

International Nuclear Information System (INIS)

Fernandez-Canton, Guillermo; Casado, Oscar; Capelastegui, Ana; Astigarraga, Elena; Larena, Jose Alejandro; Merino, Amaya

2003-01-01

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.)

Effect of angiotensin II receptor blocker, olmesartan, on turnover of bone metabolism in bedridden elderly hypertensive women with disuse syndrome.

Science.gov (United States)

Aoki, Motokuni; Kawahata, Hirohisa; Sotobayashi, Daisuke; Yu, Hisahiro; Moriguchi, Atsushi; Nakagami, Hironori; Ogihara, Toshio; Morishita, Ryuichi

2015-08-01

Although recent studies suggest that several antihypertensive drugs could reduce the risk of bone fracture, it is still unclear how these drugs act on bone remodeling, especially in elderly women with severe osteoporosis with disuse syndrome. In the present study, we investigated the effects of a calcium channel blocker (CCB) and an angiotensin II receptor blocker (ARB) on bone metabolism in elderly bedridden women with hypertension and disuse syndrome. Elderly bedridden women (aged >75 years) receiving antihypertensive therapy treated with CCB were recruited in the present study. The participants were divided into two groups--CCB group and ARB group--and followed up to 12 months. Markers of bone resorption were markedly increased, suggesting accelerated bone resorption in the participants of the present study. In the follow-up period, the patients treated with a CCB showed a significant decrease in bone mineral density in a time-dependent manner, accompanied by a significant increase in bone resorption markers, whereas treatment with olmesartan inhibited bone loss, associated with attenuation of increased bone resorption markers. Bone mineral density of femoral neck in the CCB group was significantly lower than that in the ARB group at 6 months. The present study showed inhibitory effects of an ARB on bone resorption in hypertensive patients with accelerated bone resorption, such as elderly bedridden women, and indicated an important role of the renin-angiotensin system in bone metabolism. In elderly hypertensive patients, ARB might be expected to have additional beneficial potential to maintain bone health in bedridden patients. © 2014 Japan Geriatrics Society.

Bone mineral density and body composition in Noonan's syndrome: effects of growth hormone treatment

NARCIS (Netherlands)

Noordam, C.; Span, J.; van Rijn, R. R.; Gomes-Jardin, E.; van Kuijk, C.; Otten, B. J.

2002-01-01

We assessed bone mineral density (BMD) and body composition in children with Noonan's syndrome (NS) before and during growth hormone (GH) treatment. Sixteen children (12 boys, 4 girls) with NS aged 5.8-14.2 (mean 10.0) years were studied for 2 years. Anthropometry, BMD measurements by radiographic

Food words distract the hungry: Evidence of involuntary semantic processing of task-irrelevant but biologically-relevant unexpected auditory words.

Science.gov (United States)

Parmentier, Fabrice B R; Pacheco-Unguetti, Antonia P; Valero, Sara

2018-01-01

Rare changes in a stream of otherwise repeated task-irrelevant sounds break through selective attention and disrupt performance in an unrelated visual task by triggering shifts of attention to and from the deviant sound (deviance distraction). Evidence indicates that the involuntary orientation of attention to unexpected sounds is followed by their semantic processing. However, past demonstrations relied on tasks in which the meaning of the deviant sounds overlapped with features of the primary task. Here we examine whether such processing is observed when no such overlap is present but sounds carry some relevance to the participants' biological need to eat when hungry. We report the results of an experiment in which hungry and satiated participants partook in a cross-modal oddball task in which they categorized visual digits (odd/even) while ignoring task-irrelevant sounds. On most trials the irrelevant sound was a sinewave tone (standard sound). On the remaining trials, deviant sounds consisted of spoken words related to food (food deviants) or control words (control deviants). Questionnaire data confirmed state (but not trait) differences between the two groups with respect to food craving, as well as a greater desire to eat the food corresponding to the food-related words in the hungry relative to the satiated participants. The results of the oddball task revealed that food deviants produced greater distraction (longer response times) than control deviants in hungry participants while the reverse effect was observed in satiated participants. This effect was observed in the first block of trials but disappeared thereafter, reflecting semantic saturation. Our results suggest that (1) the semantic content of deviant sounds is involuntarily processed even when sharing no feature with the primary task; and that (2) distraction by deviant sounds can be modulated by the participants' biological needs.

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

Benefits of a hungry mind: When hungry, exposure to food facilitates proactive interference resolution.

Science.gov (United States)

Maran, Thomas; Sachse, Pierre; Martini, Markus; Furtner, Marco

2017-01-01

Hunger is an everyday motivational state, which biases cognition to detect food. Although evidence exists on how hunger affects basic attentional and mnemonic processes, less is known about how motivational drive for food modulates higher cognition. We aimed to investigate the effects of food deprivation on proactive interference resolution, in the presence and absence of food. Normal-weight participants performed a recency probes paradigm providing an experimental block with food and object stimuli as well as a control block with object stimuli only, in a fasted and a sated state. Results showed that the interaction of shifts in nutritional state with the perception of food cues evoked an altered resolution of proactive interference. Satiety led to impaired performance, whereas a hungry state resulted in strengthened resistance to proactive interference and lying in between, the control block presenting neutral objects remained unaffected by nutritional state manipulation. Additionally, a further increase in proactive interference resolution occurred when the conflicting probe depicted food compared to non-food objects. We conclude that when exposed to food, hunger initiates biased competition of active memory representations in favor of prioritized source information at cost of familiar, but irrelevant information. The implications of these findings are discussed in terms of an arousal-biased competition in working memory. Copyright © 2016 Elsevier Ltd. All rights reserved.

Beals Syndrome

Science.gov (United States)

... the syndrome. How does Beals syndrome compare with Marfan syndrome? People with Beals syndrome have many of the ... bone) and aortic enlargement problems as people with Marfan syndrome, and treatments for these problems are the same. ...

Assessment of bone in Ehlers Danlos syndrome by ultrasound and densitometry.

Science.gov (United States)

Dolan, A L; Arden, N K; Grahame, R; Spector, T D

1998-10-01

Ehlers Danlos syndrome (EDS) is an inherited disorder of connective tissue characterised by hyperextensible skin, joint laxity, and easy bruising. There are phenotypic similarities with osteogenesis imperfecta, but in EDS a tendency to fracture or altered bone mass has not previously been considered to be a cardinal feature. This case-control design study investigates whether 23 patients with EDS had differences in fracture rates, bone mass, and calcaneal ultrasound parameters compared with age and sex matched controls. 23 cases of EDS (mean (SD) age 38.5 (15.5)) were compared with 23 controls (mean age 37.8 (14.5)). A significant reduction in bone density measured by dual energy x ray absorptiometry was found at the neck of femur by 0.9 SD, p = 0.05, and lumbar spine by 0.74 SD, p = 0.02. At the calcaneum, broad band ultrasound attenuation and speed of sound were significantly reduced compared with controls by 0.95 SD (p = 0.004) and 0.49 SD (p = 0.004) for broad band ultrasound attenuation and speed of sound respectively. Broad band ultrasound attenuation and speed of sound remained significantly reduced after adjusting for bone mineral density (BMD). After adjusting for functional status (HAQ), age and sex, hypermobility was inversely correlated with broad band ultrasound attenuation and SOS, but not BMD at hip or spine. Previous fracture was 10 times more common in EDS (p exercise. This is one of the first clinical studies to suggest ultrasound can detect structural differences in bone, independent of dual energy x ray absorptiometry.

Bone mineral status and metabolism in patients with Williams-Beuren syndrome.

Science.gov (United States)

Stagi, Stefano; Manoni, Cristina; Scalini, Perla; Chiarelli, Francesco; Verrotti, Alberto; Cecchi, Cecilia; Lapi, Elisabetta; Giglio, Sabrina; Romano, Silvia; de Martino, Maurizio

2016-07-01

To evaluate bone mineral status and metabolism in a cohort of patients with Williams-Beuren syndrome (WBS). Thirty-one children (15 females, 16 males; mean age 9.6±2.74 years) and 10 young adults (6 females, 4 males; mean age 21.4±5.11 years) with WBS were cross-sectionally evaluated and compared with two age-, sex-, and body-size-matched paediatric (155 subjects, 75 females and 80 males; mean age 9.7±2.93 years) and adult (50 subjects, 30 females and 20 males; mean age 22.3±5.42 years) healthy controls. We evaluated ionised and total calcium, phosphate, parathyroid hormone (PTH), 25-hydroxyvitamin D, 1,25-dihydroxyvitamin D, osteocalcin, bone alkaline phosphatase levels, and urinary deoxypyridinoline concentrations. We also calculated the phalangeal amplitude-dependent speed of sound (AD-SoS) and the bone transmission time (BTT) z-scores. WBS patients showed a significantly reduced AD-SoS z-score (p <0.001) and BTT z-score (p <0.001) compared with the controls. This finding persisted when we divided the sample into paediatric and adult patients. WBS patients also had significantly higher ionised (p <0.001) and total calcium (p <0.001) levels as well as higher PTH levels (p <0.001) compared with the controls. Furthermore, WBS children and adolescents had significantly lower serum osteocalcin levels (p <0.001) and urinary deoxypyridinoline concentrations (p <0.001) than controls. WBS subjects exhibit a significant reduction in bone mineral status and impaired bone metabolism. These findings point to the need for close monitoring of WBS patients.

Primary hyperparathyroidism with classic and severe skeletal involvement.

Science.gov (United States)

Sandoval, Mark Anthony S; Paz-Pacheco, Elizabeth

2010-08-26

A 63-year-old woman has had multiple repeated fractures. A diagnosis of primary hyperparathyroidism (PHPT) was made after she was found to be hypercalcaemic with an elevated level of intact parathyroid hormone (iPTH). Radiographs revealed classic and severe bone findings in PHPT, features which were common in the past but are thought to be rare at this modern age. She also had nephrolithiasis and osteoporosis. An enlarged parathyroid gland was seen on ultrasound and CT scan, and hyperfunction was demonstrated by scintigraphy. Parathyroidectomy was performed. Histopathologic analysis revealed a parathyroid adenoma. She developed the hungry-bone syndrome 7 days postoperatively, which resolved with with administration of calcium and calcitriol.

Multiple fractures and impaired bone metabolism in Wolfram syndrome: a case report.

Science.gov (United States)

Catalano, Antonino; Bellone, Federica; Cicala, Giuseppe; Giandalia, Annalisa; Morabito, Nunziata; Cucinotta, Domenico; Russo, Giuseppina Tiziana

2017-01-01

Wolfram Syndrome (WS) is a rare and lethal disease characterized by optic atrophy, diabetes mellitus, diabetes insipidus, and hearing loss. To date, osteoporotic related fractures have not been reported in affected patients. Here, we describe the case of a man affected by WS complicated by several bone fragility fractures. A 50-year-old Caucasian man was hospitalized because of tibia and fibula fractures. His clinical features included diabetes mellitus, diabetes insipidus, optic atrophy and deafness that were consistent with an unrecognized WS diagnosis, which was confirmed by the identification of a specific mutation in gene WFS1 encoding wolframin. Bone mineral density by phalangeal quantitative ultrasound demonstrated severe osteoporosis, with high serum levels of surrogate markers of bone turn-over. Previously unidentified rib fractures were also detected. To the best of our knowledge, this is the first report of osteoporotic related fractures in a patient affected by WS. Although no effective treatments are currently available to delay the progression of the disease, this case report suggests to evaluate fracture risk in the diagnostic work-up of WS.

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)

Dynamic alterations of bone marrow cytokine landscape of myelodysplastic syndromes patients treated with 5-azacytidine

Czech Academy of Sciences Publication Activity Database

Moudrá, Alena; Hubáčková, Soňa; Machalová, Veronika; Vančurová, Markéta; Bartek, Jiří; Reiniš, Milan; Hodný, Zdeněk; Jonasova, A.

2016-01-01

Roč. 5, č. 10 (2016), č. článku e1183860. ISSN 2162-402X R&D Projects: GA MZd NT14174 Institutional support: RVO:68378050 Keywords : 5-azacyatidine * bone marrow plasma * cytokines * DNA damage * inflammation * myelodysplastic syndromes Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 7.719, year: 2016

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

OBJECTIVE: Our objective was to investigate the effect of pioglitazone on bone mineral density (BMD) and bone turnover markers in polycystic ovary syndrome (PCOS). DESIGN AND SETTING: We conducted a randomized, placebo-controlled study at an outpatient clinic at a university hospital. PATIENTS......, 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...

Klippel-Feil Syndrome

Science.gov (United States)

... proteins that are involved in bone development and segmentation of the vertebrae. × Definition Klippel-Feil Syndrome is a rare disorder characterized ... proteins that are involved in bone development and segmentation of the vertebrae. View Full Definition ... Treatment Treatment for Klippel-Feil Syndrome is symptomatic ...

Histopathological perspective on bone marrow oedema, reactive bone change and haemorrhage

International Nuclear Information System (INIS)

Thiryayi, W.A.; Thiryayi, S.A.; Freemont, A.J.

2008-01-01

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

Histopathological perspective on bone marrow oedema, reactive bone change and haemorrhage

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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.

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

2016-04-01

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.

Pathophysiology and management of thrombocytopenia in bone marrow failure: possible clinical applications of TPO receptor agonists in aplastic anemia and myelodysplastic syndromes

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Desmond, Ronan; Dunbar, Cynthia E.; Young, Neal S.

2014-01-01

Aplastic anemia is a bone marrow failure syndrome that causes pancytopenia and can lead to life-threatening complications. Bone marrow transplantation remains the standard of care for younger patients and those with a good performance status but many patients may not have a suitable donor. Immunosuppressive therapy is able to resolve cytopenias in a majority of patients with aplastic anemia but relapses are not uncommon and some patients remain refractory to this approach. Patients may require frequent blood and platelet transfusion support which is expensive and inconvenient. Life-threatening bleeding complications still occur despite prophylactic platelet transfusion. Thrombopoietin (TPO) mimetics, such as romiplostim and eltrombopag, were developed to treat patients with refractory immune thrombocytopenia but are now being investigated for the treatment of bone marrow failure syndromes. TPO is the main regulator for platelet production and its receptor (c-Mpl) is present on megakaryocytes and hematopoietic stem cells. Trilineage hematopoietic responses were observed in a recent clinical trial using eltrombopag in patients with severe aplastic anemia refractory to immunosuppression suggesting that these agents can provide a new therapeutic option for enhancing blood production. In this review, we discuss these recent results and ongoing investigation of TPO mimetics for aplastic anemia and other bone marrow failure states like myelodysplastic syndromes. Clonal evolution or progression to acute myeloid leukemia remains a concern when using these drugs in bone marrow failure and patients should only be treated in the setting of a clinical trial. PMID:23690288

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

International Nuclear Information System (INIS)

Hite, S.H.; Krivit, W.; Haines, S.J.; Whitley, C.B.

1997-01-01

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

Novel syndrome of four-limb proximal fragility fractures associated with HIV infection, cholestatic liver failure, and histiocytic infiltration of bone marrow.

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Yu, Run; Nissen, Nicholas N; Balzer, Bonnie; Fan, Xuemo

2012-01-01

We report a syndrome of four-limb proximal fragility fractures associated with HIV infection, cholestatic liver failure, and histiocytic infiltration of bone marrow in a 40-year-old African American man. The patient presented with multiple fractures in the proximal humeri and femurs without osteopenia in the vertebrae. His right humerus appeared normal on chest X-ray film 3 years before presentation when he was first diagnosed with HIV infection and abnormal liver functions. At presentation, the patient had vitamin D deficiency, hypogonadism, and low IGF- 1 levels, but did not have hyperparathyroidism. Bone biopsy showed diffuse foamy histiocytic infiltration of bone marrow at all fracture sites without evidence of infectious or neoplastic processes. Exhaustive search did not identify any similar cases in the English literature. Our case likely represents a novel syndrome, the etiology of which is probably multifactorial and includes HIV infection, cholestatic liver failure, immobility, and endocrine abnormalities. The case further calls for the need for monitoring of bone health in patients with HIV infection or liver disease.

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...

Marfan Syndrome

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

In vivo measurements of the T1 relaxation processes in the bone marrow in patients with myelodysplastic syndrome

International Nuclear Information System (INIS)

Jensen, K.E.; Nielsen, H.; Thomsen, C.; Soerensen, P.G.; Karle, H.; Christoffersen, P.; Henriksen, O.; Hvidovre Hospital, Copenhagen; Hvidovre Hospital, Copenhagen

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-up examinations. At the time of diagnosis the T1 relaxation times of the vertebral bone marrow were significantly prolonged compared with normal values. The T1 relaxation times of the vertebral bone marrow in patients with MDS showed significantly lower values compared with patients with acute leukemia and did not differ from patients with polycythemia vera. (orig.)

Bone imaging of the heel in Reiter's syndrome. [/sup 99m/Tc-pyrophosphate

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Khalkhali, I. (Univ. of California, Sacramento); Stadalnik, R.C.; Wiesner, K.B.; Shapiro, R.F.

1979-01-01

Classic Reiter's syndrome, which affects young adult males, is characterized by arthritis, conjunctivitis, and nongonococcal urethritis. Other features of probably equal significance include circinate balanitis, shallow ulcerations of the buccal mucosa, and a dermatitis. Reiter's arthritis is usually asymmetrical and tends to involve lower extremity joints. Talalgia, or heel pain, is an often underrated characteristic feature of the arthritis. With an incidence of 50% talalgia can be localized to either the posterior aspect of the heel or to the plantar surface of the heel. Radiographic alterations in these regions are common in patients with recurrent or chronic disease, but are infrequent or minimal in patients with acute Reiter's syndrome. Recent observation of a young male with Reiter's syndrome suggests that bone imaging may help substantiate this clinical feature before radiography reveals calcaneal spurs.

Detection of paroxysmal nocturnal hemoglobinuria clones in patients with myelodysplastic syndromes and related bone marrow diseases, with emphasis on diagnostic pitfalls and caveats.

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Wang, Sa A; Pozdnyakova, Olga; Jorgensen, Jeffrey L; Medeiros, L Jeffrey; Stachurski, Dariusz; Anderson, Mary; Raza, Azra; Woda, Bruce A

2009-01-01

The presence of paroxysmal nocturnal hemoglobinuria clones in the setting of aplastic anemia or myelodysplastic syndrome has been shown to have prognostic and therapeutic implications. However, the status of paroxysmal nocturnal hemoglobinuria clones in various categories of myelodysplastic syndrome and in other bone marrow disorders is not well-studied. By using multiparameter flow cytometry immunophenotypic analysis with antibodies specific for four glycosylphosphatidylinositol-anchored proteins (CD55, CD59, CD16, CD66b) and performing an aerolysin lysis confirmatory test in representative cases, we assessed the paroxysmal nocturnal hemoglobinuria-phenotype granulocytes in 110 patients with myelodysplastic syndrome, 15 with myelodysplastic/myeloproliferative disease, 5 with idiopathic myelofibrosis and 6 with acute myeloid leukemia. Paroxysmal nocturnal hemoglobinuria-phenotype granulocytes were detected in nine patients with low grade myelodysplastic syndrome who showed clinicopathological features of bone marrow failure, similar to aplastic anemia. All paroxysmal nocturnal hemoglobinuria-positive cases demonstrated loss of the four glycosylphosphatidylinositol-anchored proteins, with CD16(-)CD66b(-) clones being larger than those of CD55(-)CD59(-) (p<0.05). Altered glycosylphosphatidylinositol-anchored protein expression secondary to granulocytic hypogranulation, immaturity, and/or immunophenotypic abnormalities was present in a substantial number of cases and diagnostically challenging. These results show that routine screening for paroxysmal nocturnal hemoglobinuria clones in patients with an intrinsic bone marrow disease who show no clinical evidence of hemolysis has an appreciable yield in patients with low grade myelodysplastic syndromes. The recognition of diagnostic caveats and pitfalls associated with the underlying intrinsic bone marrow disease is essential in interpreting paroxysmal nocturnal hemoglobinuria testing correctly. In our experience, the CD

Hungry Horse Dam fisheries mitigation program: Fish passage and habitat improvement in the Upper Flathead River basin

International Nuclear Information System (INIS)

Knotek, W.L.; Deleray, M.; Marotz, B.

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

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

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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…

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.)

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

International Nuclear Information System (INIS)

Ayyala, Rama S.; Arnold, Staci D.; Bhatia, Monica; Dastgir, Jahannaz

2016-01-01

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.)

Bone - marrow postirradiation syndrome

International Nuclear Information System (INIS)

Sesztakova, E.; Bilek, J.; Benova, K.; Novakova, J.; Culenova, K.

2006-01-01

Quantitative and qualitative changes in haemopoietic cells in chicken bone Marrow were investigated after acute single irradiation with doses 4.5 Gy and 5 Gy. Samples of bone marrow were obtained from proximal femoral epiphysis of decapitated chickens. Marrow smears were prepared and stained according to Pappenheim. Qualitative examination of myelogram showed proliferation of adipose tissue, hypocellularity, caryolyosis, caryorexis, disintegration of cells and proliferation of cells which could not be differentiated. Quantitative examination revealed high radiosensitivity of blast cells and lymphocytes shortly after irradiation. (authors)

Mesenchymal Stem Cells From Bone Marrow, Adipose Tissue, and Lung Tissue Differentially Mitigate Lung and Distal Organ Damage in Experimental Acute Respiratory Distress Syndrome.

Science.gov (United States)

Silva, Johnatas D; Lopes-Pacheco, Miquéias; Paz, Ana H R; Cruz, Fernanda F; Melo, Elga B; de Oliveira, Milena V; Xisto, Débora G; Capelozzi, Vera L; Morales, Marcelo M; Pelosi, Paolo; Cirne-Lima, Elizabeth; Rocco, Patricia R M

2018-02-01

Mesenchymal stem cells-based therapies have shown promising effects in experimental acute respiratory distress syndrome. Different mesenchymal stem cells sources may result in diverse effects in respiratory diseases; however, there is no information regarding the best source of mesenchymal stem cells to treat pulmonary acute respiratory distress syndrome. We tested the hypothesis that mesenchymal stem cells derived from bone marrow, adipose tissue, and lung tissue would lead to different beneficial effects on lung and distal organ damage in experimental pulmonary acute respiratory distress syndrome. Animal study and primary cell culture. Laboratory investigation. Seventy-five Wistar rats. Wistar rats received saline (control) or Escherichia coli lipopolysaccharide (acute respiratory distress syndrome) intratracheally. On day 2, acute respiratory distress syndrome animals were further randomized to receive saline or bone marrow, adipose tissue, or lung tissue mesenchymal stem cells (1 × 10 cells) IV. Lung mechanics, histology, and protein levels of inflammatory mediators and growth factors were analyzed 5 days after mesenchymal stem cells administration. RAW 264.7 cells (a macrophage cell line) were incubated with lipopolysaccharide followed by coculture or not with bone marrow, adipose tissue, and lung tissue mesenchymal stem cells (10 cells/mL medium). Regardless of mesenchymal stem cells source, cells administration improved lung function and reduced alveolar collapse, tissue cellularity, collagen, and elastic fiber content in lung tissue, as well as decreased apoptotic cell counts in liver. Bone marrow and adipose tissue mesenchymal stem cells administration also reduced levels of tumor necrosis factor-α, interleukin-1β, keratinocyte-derived chemokine, transforming growth factor-β, and vascular endothelial growth factor, as well as apoptotic cell counts in lung and kidney, while increasing expression of keratinocyte growth factor in lung tissue

F-18 FDG PET/CT in 26 patients with SAPHO syndrome: a new vision of clinical and bone scintigraphy correlation.

Science.gov (United States)

Sun, Xiaochuan; Li, Chen; Cao, Yihan; Shi, Ximin; Li, Li; Zhang, Weihong; Wu, Xia; Wu, Nan; Jing, Hongli; Zhang, Wen

2018-05-22

Whole-body bone scintigraphy (WBBS) and MRI are widely used in assessment of patients with synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome. However, the value of F-18 fluorodeoxyglucose-positron emission tomography/computed tomography ( 18 F-FDG PET/CT) in SAPHO syndrome was unclear. The aim of this study was to characterize the manifestation of SAPHO syndrome on 18 F-FDG PET/CT and explore its relationship with clinical symptoms and WBBS. Twenty-six patients who suffered from SAPHO syndrome and had undergone whole-body 18 F-FDG PET/CT were recruited in Peking Union Medical College Hospital from 2004 to 2016. Clinical manifestations and laboratory findings were recorded for all patients. Imaging data on 18F-FDG PET/CT and WBBS were collected and analyzed retrospectively. All the 26 patients (20 females and 6 males) exhibited skeletal abnormalities on 18 F-FDG PET/CT. Multiple skeletal lesions affecting the anterior chest wall or spine with low to moderate 18 F-FDG uptake and coexistence of osteolysis and osteosclerosis presented as the typical features of SAPHO syndrome. Sixteen (61.5%) patients had abnormal 18 F-FDG uptake outside the osteoarticular system. PET scan had moderate to substantial agreement with CT and WBBS in revealing lesions in the anterior chest wall and axial skeleton. Nonetheless, the correlation between increased 18 F-FDG uptake and clinical symptoms was weak. SAPHO syndrome exhibits characteristic features on 18 F-FDG PET/CT. It showed comparable capacity in revealing skeletal lesions with bone scintigraphy.

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.

[Effect of low-dose or standard-dose conjugated equine estrogen combined with different progesterone on bone density in menopause syndrome women].

Science.gov (United States)

Zuo, H L; Deng, Y; Wang, Y F; Gao, L L; Xue, W; Zhu, S Y; Ma, X; Sun, A J

2018-04-25

Objective: To explore the effect of low-dose or standard-dose conjugated equine estrogen (CEE) combined with natural progesterone or dydrogesterone on bone density in menopause syndrome women. Methods: Totally 123 patients with menopause syndrome were recruited and randomly assigned to 3 treatment groups: group A (low-dose CEE+progesterone) , group B (standard-dose CEE+progesterone) , group C (standard-dose CEE+dydrogesterone) . Using continuous sequential regimen, the duration of intervention was 12 cycles. The bone mineral density of lumbar 2-4 and neck of femur, the bone metabolic markers, the level of FSH and estradiol were examined just before the drug administration and 12 months after the beginning of experiment. Results: There were 107 cases completed the one year trial. (1) Bone density: after 12 cycles of treatment, there was no significant change in bone density in group A ( P> 0.05) ; lumbar vertebrae of group B and C increased significantly, at 3.0% and 2.1%respectively (all Pdensity of left femoral neck of group C significantly increased by 2.9% ( P= 0.029) . There was no significant difference among the treatment groups at the beginning of experiment ( P> 0.05) . (2) Bone metabolic markers: after 12 cycles of treatment, the levels of calcium, phosphorus, alkaline phosphatase, Ca/Cr decreased significantly, the difference were statistically significant (all P 0.05) . (3) Levels of FSH and estradiol: after 12 cycles of treatment, the levels of FSH in three groups were decreased significantly (all P 0.05) . Conclusions: Both low-dose and standard-dose menopause hormone therapy (MHT) could elevate the level of estradiol, reduce bone turnover, prevent bone loss of postmenopausal women effectively. The standard dose of MHT could also increase the density of vertebrae and femoral neck, and generate more clinical benefits.

Endocrine manifestations of Down syndrome.

Science.gov (United States)

Whooten, Rachel; Schmitt, Jessica; Schwartz, Alison

2018-02-01

To summarize the recent developments in endocrine disorders associated with Down syndrome. Current research regarding bone health and Down syndrome continues to show an increased prevalence of low bone mass and highlights the importance of considering short stature when interpreting dual energy x-ray absorptiometry. The underlying cause of low bone density is an area of active research and will shape treatment and preventive measures. Risk of thyroid disease is present throughout the life course in individuals with Down syndrome. New approaches and understanding of the pathophysiology and management of subclinical hypothyroidism continue to be explored. Individuals with Down syndrome are also at risk for other autoimmune conditions, with recent research revealing the role of the increased expression of the Autoimmune Regulatory gene on 21st chromosome. Lastly, Down-syndrome-specific growth charts were recently published and provide a better assessment of growth. Recent research confirms and expands on the previously known endocrinopathies in Down syndrome and provides more insight into potential underlying mechanisms.

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

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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.

Multiple constitutional aetiological factors in bone marrow failure syndrome (BMFS) patients from north India.

Science.gov (United States)

Varma, Neelam; Varma, Subhash; Marwaha, Ram Kumar; Malhotra, Pankaj; Bansal, Deepak; Malik, Kiran; Kaur, Sukhdeep; Garewal, Gurjeevan

2006-07-01

A large number of patients diagnosed with bone marrow failure syndromes (BMFS), comprising aplastic anaemia (AA) and myelodysplastic syndromes (MDS), remain aetiologically uncharacterized worldover, especially in resource constrained set up. We carried out this study to identify a few constitutional causes in BMFS patients attending a tertiary care hospital in north India. Peripheral blood lymphocyte cultures were performed (with and without clastogens) in a cohort of 135 consecutive BMFS patients, in order to detect Fanconi anaemia (FA), Down's syndrome (+21), trisomy 8 (+8) and monosomy 7 (-7). Constitutional factors were detected in 17 (12.6%) patients. FA defect was observed in 24.07 percent (13/54), 16.66 percent (1/6) and 2.85 percent (1/35) paediatric aplastic anaemia, paediatric MDS and adult MDS patients respectively. Down's syndrome was detected in 5.00 percent (2/40) adult aplastic anaemia patients. None of the patients revealed trisomy 8 or monosomy 7. Presence of an underlying factor determines appropriate management, prognostication, family screening and genetic counselling of BMFS patients. Special tests required to confirm or exclude constitutional aetiological factors are not available to majority of the patients in our country. Diepoxybutane (DEB) test yielded better results than mitomycin C (MMC) test in our experience.

Marfan Syndrome (For Parents)

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... en español Síndrome de Marfan What Is Marfan Syndrome? Marfan syndrome is a genetic disorder of the body's ... bones , blood vessels, and organs. What Causes Marfan Syndrome? Marfan syndrome happens because of an abnormality in one ...

Sensorineural deafness, distinctive facial features, and abnormal cranial bones: a new variant of Waardenburg syndrome?

Science.gov (United States)

Gad, Alona; Laurino, Mercy; Maravilla, Kenneth R; Matsushita, Mark; Raskind, Wendy H

2008-07-15

The Waardenburg syndromes (WS) account for approximately 2% of congenital sensorineural deafness. This heterogeneous group of diseases currently can be categorized into four major subtypes (WS types 1-4) on the basis of characteristic clinical features. Multiple genes have been implicated in WS, and mutations in some genes can cause more than one WS subtype. In addition to eye, hair, and skin pigmentary abnormalities, dystopia canthorum and broad nasal bridge are seen in WS type 1. Mutations in the PAX3 gene are responsible for the condition in the majority of these patients. In addition, mutations in PAX3 have been found in WS type 3 that is distinguished by musculoskeletal abnormalities, and in a family with a rare subtype of WS, craniofacial-deafness-hand syndrome (CDHS), characterized by dysmorphic facial features, hand abnormalities, and absent or hypoplastic nasal and wrist bones. Here we describe a woman who shares some, but not all features of WS type 3 and CDHS, and who also has abnormal cranial bones. All sinuses were hypoplastic, and the cochlea were small. No sequence alteration in PAX3 was found. These observations broaden the clinical range of WS and suggest there may be genetic heterogeneity even within the CDHS subtype. 2008 Wiley-Liss, Inc.

Central and peripheral distribution of bone marrow on bone marrow scintigraphy with antigranulocytic antibody in hematologic malignancy

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Kang, Do Young [Dong-A University College of Medicne, Busan (Korea, Republic of); Lee, Jae Tae; Sohn, Sang Kyun; Lee, Kyu Bo [Kyungpook National University School of Medicine, Taegu (Korea, Republic of)

2002-10-01

Bone marrow scintigraphy has been used to evaluate the status of bone marrow in various hematologic disorders. We have analyzed the peripheral distribution pattern and central uptake ratio of bone marrow using anti-NCA-95 monoclonal antibody and the their correlation in patients with various hematologic malignancy. Bone marrow immunoscintigraphy was performed using Tc-99m anti-granulocyte monoclonal mouse antibody BW 250/183. Fifty patients were classified into four groups; 11 with acute myelogenous leukemia, 12 with acute lymphocytic leukemia, 15 with lymphoma and 12 with myelodysplastic syndrome. Th extension of peripheral bone marrow was categorized into four grades: I, II, III and IV. The activity of central bone marrow was expressed as sacroiliac uptake ratio. The patient's number was 4 in grade I, 27 in grade II, 15 in grade III and 4 in grade IV according to extension of peripheral bone marrow. The extension of peripheral bone marrow was marked (58% in grade III and IV) in myelodysplastic syndrome and acute lymphocytic leukemia and mild (93% in grade I and II) in lymphoma. Sacroiliac uptake ratio was highest (8.5{+-}4.0) in myelodysplastic syndrome and lowest (5.9{+-}3.6) in acute myelogenous leukemia, but not significantly different among four grades (p=0.003), but there was not correlated between grade of peripheral bone marrow and sacroiliac uptake ratio (r=0.05). Sacroiliac uptake ratio of whole patients was significantly different among four grades (p=0.003), but there was not correlated between grade of peripheral bone marrow and sacroiliac uptake ratio (r=0.05). The pattern of peripheral bone marrow extension and activity of central hemopoietic marrow were not specific to the disease entities. Response of hemopoietic bone marrow may be evaluated on both peripheral and central bone marrow in patients with hematologic malignancy.

Central and peripheral distribution of bone marrow on bone marrow scintigraphy with antigranulocytic antibody in hematologic malignancy

International Nuclear Information System (INIS)

Kang, Do Young; Lee, Jae Tae; Sohn, Sang Kyun; Lee, Kyu Bo

2002-01-01

Bone marrow scintigraphy has been used to evaluate the status of bone marrow in various hematologic disorders. We have analyzed the peripheral distribution pattern and central uptake ratio of bone marrow using anti-NCA-95 monoclonal antibody and the their correlation in patients with various hematologic malignancy. Bone marrow immunoscintigraphy was performed using Tc-99m anti-granulocyte monoclonal mouse antibody BW 250/183. Fifty patients were classified into four groups; 11 with acute myelogenous leukemia, 12 with acute lymphocytic leukemia, 15 with lymphoma and 12 with myelodysplastic syndrome. Th extension of peripheral bone marrow was categorized into four grades: I, II, III and IV. The activity of central bone marrow was expressed as sacroiliac uptake ratio. The patient's number was 4 in grade I, 27 in grade II, 15 in grade III and 4 in grade IV according to extension of peripheral bone marrow. The extension of peripheral bone marrow was marked (58% in grade III and IV) in myelodysplastic syndrome and acute lymphocytic leukemia and mild (93% in grade I and II) in lymphoma. Sacroiliac uptake ratio was highest (8.5±4.0) in myelodysplastic syndrome and lowest (5.9±3.6) in acute myelogenous leukemia, but not significantly different among four grades (p=0.003), but there was not correlated between grade of peripheral bone marrow and sacroiliac uptake ratio (r=0.05). Sacroiliac uptake ratio of whole patients was significantly different among four grades (p=0.003), but there was not correlated between grade of peripheral bone marrow and sacroiliac uptake ratio (r=0.05). The pattern of peripheral bone marrow extension and activity of central hemopoietic marrow were not specific to the disease entities. Response of hemopoietic bone marrow may be evaluated on both peripheral and central bone marrow in patients with hematologic malignancy

Bone marrow transplantation and other treatment after radiation injury

International Nuclear Information System (INIS)

Balner, H.

1977-01-01

This review deals mainly with current concepts about bone marrow transplantation as therapy for serious radiation injury. Such injury can be classified according to the following broadly defined dose ranges: (1) the supralethal range, leading mainly to the cerebral and intestinal syndromes; (2) the potentially lethal or therapeutic range which causes the bone marrow syndrome, and (3) the sublethal range which rarely leads to injury requiring therapy. The bone marrow syndrome of man and animals is discussed in detail. The optimal therapy for this syndrome is bone marrow transplantation in conjunction with conventional supportive treatment. The principal complications of such therapy are Graft versus Host Disease and a slow recovery of the recipient's immune system. Concerted research activities in a number of institutions have led to considerable progress in the field of bone marrow transplantation. Improved donor selection, new techniques for stem-cell separation and preservation, as well as effective barrier-nursing and antibiotic decontamination, have made bone marrow transplantation an accepted therapy for marrow depression, including the aplasia caused by excessive exposure to radiation. The review also contains a number of guidelines for the handling of serious radiation accidents. (Auth.)

Effect of estrogen replacement therapy on bone and cardiovascular outcomes in women with turner syndrome: a systematic review and meta-analysis.

Science.gov (United States)

Cintron, Dahima; Rodriguez-Gutierrez, Rene; Serrano, Valentina; Latortue-Albino, Paula; Erwin, Patricia J; Murad, Mohammad Hassan

2017-02-01

Patients with Turner syndrome have adverse bone and cardiovascular outcomes from chronic estrogen deficiency. Hence, long-term estrogen replacement therapy is the cornerstone treatment. The estimates of its effect and optimal use, however, remain uncertain. We aimed to summarize the benefits and harms of estrogen replacement therapy on bone, cardiovascular, vasomotor and quality of life outcomes in patients with Turner syndrome. A comprehensive search of four databases was performed from inception through January 2016. Randomized clinical trials and observational cohort studies studying the effect of estrogen replacement therapy in patients with Turner syndrome under the age of 40 were included. Independently and in duplicate reviewers selected studies, extracted data and assessed risk of bias. Subgroup analyses were based on route of administration and type of estrogen formulation. Twenty-five studies at moderate to high risk of bias (12 randomized trials, 13 cohort studies) with 771 patients were included. Using random-effects models, estrogen replacement therapy showed an increase in bone mineral density [weighted mean change from baseline 0.09 g/cm2 (0.04-0.14)] that differed by type of estrogen but not route of administration. Oral estrogen replacement therapy showed a higher increase in high density lipoprotein cholesterol levels when compared to transdermal [weighted mean difference 9.33 mg/dl (4.82-13.85)] with no significant effect on other lipid fractions. The current evidence suggests possible benefit of estrogen replacement therapy on bone mineral density and high density lipoprotein cholesterol. Whether this improvement translates into changes in patient important outcomes (cardiovascular events or fractures) remains uncertain. Larger randomized clinical trials with direct comparisons on patient important outcomes are necessary.

Bisphosphonate-induced zebra lines in fibrous dysplasia of bone: histo-radiographic correlation in a case of McCune-Albright syndrome

Energy Technology Data Exchange (ETDEWEB)

Corsi, Alessandro; Riminucci, Mara [Sapienza University, Department of Molecular Medicine, Rome (Italy); Ippolito, Ernesto [University of Rome Tor Vergata, Department of Orthopaedic Surgery, Rome (Italy); Robey, Pamela G. [Skeletal Biology Section, National Institute of Dental and Craniofacial Research, National Institutes of Health, Department of Health and Human Services, Bethesda, MD (United States); Boyde, Alan [Queen Mary University of London, Dental Physical Sciences, London (United Kingdom)

2017-10-15

Bisphosphonates (BPs) are currently used in the treatment of diverse bone diseases including fibrous dysplasia of bone (FD). In pediatric patients, a radiographic consequence of cyclical administration of BPs is the development of apo-, epi-, and meta-physeal sclerotic bands, otherwise known as zebra lines, which result from the temporary inhibition of osteoclastic activity at the time of drug treatment. We report here on a child with McCune-Albright syndrome (FD in addition to hyperfunctioning endocrinopathies and skin hyperpigmentation) treated with cyclical intravenous infusions of pamidronate in which conventional radiography, contact microradiography, histology, and backscattered electron image analysis demonstrated that zebra lines formed only where bone was normal, were arrested at the boundary between FD-unaffected and FD-affected bone where bone is sclerotic, and were absent within the undermineralized FD bone. Moreover, in spite of the treatment, the FD lesions continued to expand. This case report is unique because no previously published studies correlated the radiographic and the histologic features of BP-induced zebra lines in the metaphysis of an FD-affected long bone of the limbs. (orig.)

Bisphosphonate-induced zebra lines in fibrous dysplasia of bone: histo-radiographic correlation in a case of McCune-Albright syndrome

International Nuclear Information System (INIS)

Corsi, Alessandro; Riminucci, Mara; Ippolito, Ernesto; Robey, Pamela G.; Boyde, Alan

2017-01-01

Bisphosphonates (BPs) are currently used in the treatment of diverse bone diseases including fibrous dysplasia of bone (FD). In pediatric patients, a radiographic consequence of cyclical administration of BPs is the development of apo-, epi-, and meta-physeal sclerotic bands, otherwise known as zebra lines, which result from the temporary inhibition of osteoclastic activity at the time of drug treatment. We report here on a child with McCune-Albright syndrome (FD in addition to hyperfunctioning endocrinopathies and skin hyperpigmentation) treated with cyclical intravenous infusions of pamidronate in which conventional radiography, contact microradiography, histology, and backscattered electron image analysis demonstrated that zebra lines formed only where bone was normal, were arrested at the boundary between FD-unaffected and FD-affected bone where bone is sclerotic, and were absent within the undermineralized FD bone. Moreover, in spite of the treatment, the FD lesions continued to expand. This case report is unique because no previously published studies correlated the radiographic and the histologic features of BP-induced zebra lines in the metaphysis of an FD-affected long bone of the limbs. (orig.)

POEMS syndrome: unusual radiographic, scintigraphic and CT features

International Nuclear Information System (INIS)

Narvaez, J.A.; Majos, C.; Valls, C.; Fernandez-Cabrera, L.; Narvaez, J.

1998-01-01

POEMS syndrome is a multisystemic disorder related to a plasma cell dyscrasia. Radiologically, this syndrome is characterized by sclerotic focal bone lesions with a normal radionuclide bone scan. We report a case of POEMS syndrome with an expansile lytic lesion in the sternum showing periosteal reaction and soft tissue mass, which revealed locally increased uptake of radiotracer in bone scintigraphy. These unusual findings and the differential diagnosis are discussed. (orig.)

Cytogenetic evidence of metastatic myxoid liposarcoma and therapy-related myelodysplastic syndrome in a bone marrow biopsy.

Science.gov (United States)

Rossi, Sabrina; Canal, Fabio; Licci, Stefano; Zanatta, Lucia; Laurino, Licia; Gottardi, Michele; Gherlinzoni, Filippo; Dei Tos, Angelo Paolo

2009-07-01

Myxoid liposarcoma exhibits a peculiar clinical behavior, with a tendency to spread to serosal membranes, distant soft tissues, and bones, even in the absence of lung metastases. Therapy-related hematological neoplasms are well-known side effects of cytotoxic chemotherapy. We describe an exceptional case of metastatic myxoid liposarcoma of the spine associated with therapy-related refractory anemia with excess of blasts in a 37-year-old woman who underwent multi-agent chemotherapy for a myxoid liposarcoma of the left thigh. Microscopic examination of the bone marrow biopsy revealed dysplastic features, with abnormal localization of immature precursors and micromegakaryocytes, and islands of undifferentiated oval small/medium-size cells, suggestive of acute myeloid leukemia arising in the setting of a myelodysplastic syndrome. Immunohistochemistry was not discriminant. Cytogenetic analyses of bone marrow aspirate disclosed the presence of 2 different rearrangements, subsequently confirmed by fluorescent in situ hybridization and was crucial in making the correct diagnosis.

Delay in estrogen commencement is associated with lower bone mineral density in Turner syndrome.

Science.gov (United States)

Nguyen, H H; Wong, P; Strauss, B J; Jones, G; Ebeling, P R; Milat, F; Vincent, A

2017-10-01

Turner syndrome (TS) is associated with hypogonadism, osteoporosis and fractures. We investigated the prevalence and risk factors for low bone density and fractures in a TS cohort. We included 76 TS patients (median age 28.5 years) attending a tertiary hospital between 1998 and 2015 who underwent dual-energy X-ray absorptiometry. Spine and femoral neck (FN) areal bone mineral density (aBMD) were compared with those of a control group. To adjust for smaller bone size, bone mineral apparent density (BMAD) was calculated. Primary amenorrhea was common (83%) in the TS cohort; the median age of pubertal induction was 15 years (range 11-30 years), and non-continuous estrogen therapy (ET) recorded in 40%. Almost one-third of TS patients reported fractures. TS patients had lower median spinal aBMD (1.026 g/cm 2 vs. 1.221 g/cm 2 ) and BMAD (0.156 g/cm 3 vs. 0.161 g/cm 3 ) than controls, and lower median FN aBMD (0.850 g/cm 2 vs. 1.026 g/cm 2 ) (all p < 0.01). More women with TS had spinal Z-score < -2.0 compared to controls (26.0% vs. 3.6%, p = 0.001). Spine and FN aBMD, BMAD and Z-scores were inversely associated with age commencing ET or years of estrogen deficiency. Delay in ET commencement was an independent risk factor for the lower bone density observed in women with TS. Early pubertal induction and ET compliance are important targets to optimize aBMD.

POEMS syndrome: unusual radiographic, scintigraphic and CT features

Energy Technology Data Exchange (ETDEWEB)

Narvaez, J.A.; Majos, C.; Valls, C.; Fernandez-Cabrera, L. [Department of CT and MR Imaging, Ciudad Sanitaria y Universitaria de Bellvitge, Barcelona (Spain); Narvaez, J. [Department of Rheumatology, Hospital Princeps d`Espanya, L`Hospitalet de Llobregat, Barcelona (Spain)

1998-02-01

POEMS syndrome is a multisystemic disorder related to a plasma cell dyscrasia. Radiologically, this syndrome is characterized by sclerotic focal bone lesions with a normal radionuclide bone scan. We report a case of POEMS syndrome with an expansile lytic lesion in the sternum showing periosteal reaction and soft tissue mass, which revealed locally increased uptake of radiotracer in bone scintigraphy. These unusual findings and the differential diagnosis are discussed. (orig.) With 3 figs., 8 refs.

Food loss in a hungry world, a problem?

Directory of Open Access Journals (Sweden)

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.

Mutiple Spontaneous Rib Fractures in Patient with Cushing's Syndrome.

Science.gov (United States)

Lee, Hyun Jung; Je, Ji Hye; Seo, Ji Hye; Na, Young Ju; Yoo, Hye Jin

2014-11-01

Glucocorticoid (GC) excess, including Cushing's syndrome, is a common cause of secondary osteoporosis. Thirty to fifty percent of Cushing's syndrome patients experience non-traumatic fractures, which is often the presenting manifestation of Cushing's syndrome. However, there have been rare cases of Cushing's syndrome diagnosed only based upon bone manifestations. We describe a case of Cushing's syndrome that was diagnosed in a 44-year-old woman who initially visited our hospital due to multiple non-traumatic rib fractures. She did not exhibit any other manifestations of Cushing's syndrome such as moon face, buffalo hump or abdominal striae. Initially, we evaluated her for bone metastases from a cancer of unknown origin, but there was no evidence of metastatic cancer. Instead, we found a left adrenal incidentaloma. As a result of the hormone study, she was diagnosed as having Cushing's syndrome. Interestingly, her bony manifestation of Cushing's syndrome, which was evident in the bone scan and bone mineral densitometry, completely recovered after a left adrenalectomy. Therefore, the possibility of Cushing's syndrome as a cause of secondary osteoporosis should be considered in young patients with non-traumatic multiple fractures, with or without any other typical features of Cushing's syndrome.

Two types of bone necrosis in the Middle Triassic Pistosaurus longaevus bones: the results of integrated studies

Science.gov (United States)

Surmik, Dawid; Rothschild, Bruce M.; Dulski, Mateusz; Janiszewska, Katarzyna

2017-07-01

Avascular necrosis, diagnosed on the basis of either a specific pathological modification of the articular surfaces of bone or its radiologic appearance in vertebral centra, has been recognized in many Mesozoic marine reptiles as well as in present-day marine mammals. Its presence in the zoological and paleontologic record is usually associated with decompression syndrome, a disease that affects secondarily aquatic vertebrates that could dive. Bone necrosis can also be caused by infectious processes, but it differs in appearance from decompression syndrome-associated aseptic necrosis. Herein, we report evidence of septic necrosis in the proximal articular surface of the femur of a marine reptile, Pistosaurus longaevus, from the Middle Triassic of Poland and Germany. This is the oldest recognition of septic necrosis associated with septic arthritis in the fossil record so far, and the mineralogical composition of pathologically altered bone is described herein in detail. The occurrence of septic necrosis is contrasted with decompression syndrome-associated avascular necrosis, also described in Pistosaurus longaevus bone from Middle Triassic of Germany.

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...

THE PATHOLOGY OF BONE MARROW FAILURE

OpenAIRE

Leguit , Roos; Van Den Tweel , Jan G

2010-01-01

Abstract 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 considerable 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 a...

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.

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.

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.

The semiquantitative three-phase bone scintigraphy on hemiplegic patients with earlier complex regional pain syndrome

International Nuclear Information System (INIS)

Li Fang; Liu Xingdang; Lu Zhihui; Liu Congjin

2010-01-01

Objective: To investigate the difference between the early phases and delay phase of three-phase bone scintigraphy on hemiplegic patients with earlier complex regional pain syndrome (CRPS). Methods: Twenty-nine stroke patients with hemiplegia complicating CRPS received three-phase bone scintigraphy after intravenous injection of 99 Tc m -methylene diphosphonate (MDP). The region of interest (ROI) technique was used to obtain the radioactive counts of involved joints and contralateral sites on wrists, metacarpophalangeal, proximal interphalangeal and distal interphalangeal joints. The total counts of these four sites in each patient were then obtained and the total uptake ratios of involved joints/contralateral joints for each phase were calculated to compare the difference among the three phases. Wilcoxon test and ANOVA were used in data analyses. Results: The involved joints of hemiplegic side displayed higher tracer uptake. There were significant differences of the radioactive counts between involved joints and uninvolved ones in the perfusion, pool and delay phase (Wilcoxon test, Z: -4.73 to -2.10, P<0.05). There was no significant difference of total uptake ratios of involved joints/contralateral joints among the three phases (ANOVA, F = 0. 807, P < 0.05). Conclusions: Due to higher bone seeking agent accumulation on three-phase bone scintigraphy, both early phases and delay phase imaging showed similar value in stroke patients with hemiplegia complicating earlier CRPS. (authors)

Beyond the dryness of Sjögren’s syndrome : renal complications and bone metabolism : Meer dan droogte bij het syndroom van Sjögren : niercomplicaties en botmetabolisme

NARCIS (Netherlands)

T. Both (Tim)

2017-01-01

markdownabstractIn this thesis, we addressed three clinical important issues: 1) the prevalence and consequences of distal renal tubular acidosis in Primary Sjögren’s syndrome patients; 2) the effect of Primary Sjögren’s syndrome on bone metabolism; 3) the effect of hydroxychloroquine on

Beauty parlor stroke syndrome due to a bone fragment from an osteophyte of the atlas: case report.

Science.gov (United States)

Kameda, Takuya; Otani, Koji; Tamura, Takamitsu; Konno, Shinichi

2018-04-01

Beauty parlor stroke syndrome (BPSS) is a rare condition characterized by mechanical impingement of a vertebral artery (VA) during neck rotation and/or hyperextension followed by vertebrobasilar insufficiency. However, there have been no reports of BPSS in which the cause of mechanical impingement was identified and no cases for which surgical treatment was reported. The authors report the case of a 56-year-old Japanese man who presented with presyncope that occurred during cervical extension. Given the possibility of vertebrobasilar insufficiency, digital subtraction angiography and CT angiography were performed. These studies revealed that the right VA was hypoplastic and the left VA was dominant. Moreover, in the position of cervical extension, the dominant left VA showed constriction caused by a bone fragment of an osteophyte of the atlas. Removal of the bone fragment was performed. Postoperative left vertebral angiography showed improvement of blood flow in the extended position, and the presyncope completely disappeared. The pathomechanism of this case was a bone fragment compressing the left VA in the C-1 groove during neck extension. In BPSS patients with recurrent transient symptoms, the possibility of this mechanism of VA constriction by a free bone fragment should be considered.

[Metabolic bone disease osteomalacia].

Science.gov (United States)

Reuss-Borst, M A

2014-05-01

Osteomalacia is a rare disorder of bone metabolism leading to reduced bone mineralization. Underlying vitamin D deficiency and a disturbed phosphate metabolism (so-called hypophosphatemic osteomalacia) can cause the disease. Leading symptoms are dull localized or generalized bone pain, muscle weakness and cramps as well as increased incidence of falls. Rheumatic diseases, such as polymyalgia rheumatica, rheumatoid arthritis, myositis and fibromyalgia must be considered in the differential diagnosis. Alkaline phosphatase (AP) is typically elevated in osteomalacia while serum phosphate and/or 25-OH vitamin D3 levels are reduced. The diagnosis of osteomalacia can be confirmed by an iliac crest bone biopsy. Histological correlate is reduced or deficient mineralization of the newly synthesized extracellular matrix. Treatment strategies comprise supplementation of vitamin D and calcium and for patients with intestinal malabsorption syndromes vitamin D and calcium are also given parenterally. In renal phosphate wasting syndromes substitution of phosphate is the treatment of choice, except for tumor-induced osteomalacia when removal of the tumor leads to a cure in most cases.

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.

Erythroleukemia shares biological features and outcome with myelodysplastic syndromes with excess blasts: a rationale for its inclusion into future classifications of myelodysplastic syndromes.

Science.gov (United States)

Calvo, Xavier; Arenillas, Leonor; Luño, Elisa; Senent, Leonor; Arnan, Montserrat; Ramos, Fernando; Ardanaz, María Teresa; Pedro, Carme; Tormo, Mar; Montoro, Julia; Díez-Campelo, María; Arrizabalaga, Beatriz; Xicoy, Blanca; Bonanad, Santiago; Jerez, Andrés; Nomdedeu, Benet; Ferrer, Ana; Sanz, Guillermo F; Florensa, Lourdes

2016-12-01

Erythroleukemia was considered an acute myeloid leukemia in the 2008 World Health Organization (WHO) classification and is defined by the presence of ≥50% bone marrow erythroblasts, having <20% bone marrow blasts from total nucleated cells but ≥20% bone marrow myeloblasts from nonerythroid cells. Erythroleukemia shares clinicopathologic features with myelodysplastic syndromes, especially with erythroid-predominant myelodysplastic syndromes (≥50% bone marrow erythroblasts). The upcoming WHO revision proposes to eliminate the nonerythroid blast cell count rule and to move erythroleukemia patients into the appropriate myelodysplastic syndrome category on the basis of the absolute blast cell count. We conducted a retrospective study of patients with de novo erythroleukemia and compared their clinico-biological features and outcome with those of de novo myelodysplastic syndromes, focusing on erythroid-predominant myelodysplastic syndromes. Median overall survival of 405 erythroid-predominant myelodysplastic syndromes without excess blasts was significantly longer than that observed in 57 erythroid-predominant refractory anemias with excess blasts-1 and in 59 erythroleukemias, but no significant difference was observed between erythroid-predominant refractory anemias with excess blasts-1 and erythroleukemias. In this subset of patients with ≥50% bone marrow erythroblasts and excess blasts, the presence of a high-risk karyotype defined by the International Prognostic Scoring System or by the Revised International Prognostic Scoring System was the main prognostic factor. In the same way, the survival of 459 refractory anemias with excess blasts-2, independently of having ≥20% bone marrow blasts from nonerythroid cells or not, was almost identical to the observed in 59 erythroleukemias. Interestingly, 11 low-blast count erythroleukemias with 5 to <10% bone marrow blasts from total nucleated cells showed similar survival than the rest of erythroleukemias. Our data

The discrete hungry Lotka Volterra system and a new algorithm for computing matrix eigenvalues

Science.gov (United States)

Fukuda, Akiko; Ishiwata, Emiko; Iwasaki, Masashi; Nakamura, Yoshimasa

2009-01-01

The discrete hungry Lotka-Volterra (dhLV) system is a generalization of the discrete Lotka-Volterra (dLV) system which stands for a prey-predator model in mathematical biology. In this paper, we show that (1) some invariants exist which are expressed by dhLV variables and are independent from the discrete time and (2) a dhLV variable converges to some positive constant or zero as the discrete time becomes sufficiently large. Some characteristic polynomial is then factorized with the help of the dhLV system. The asymptotic behaviour of the dhLV system enables us to design an algorithm for computing complex eigenvalues of a certain band matrix.

The discrete hungry Lotka–Volterra system and a new algorithm for computing matrix eigenvalues

International Nuclear Information System (INIS)

Fukuda, Akiko; Ishiwata, Emiko; Iwasaki, Masashi; Nakamura, Yoshimasa

2009-01-01

The discrete hungry Lotka–Volterra (dhLV) system is a generalization of the discrete Lotka–Volterra (dLV) system which stands for a prey–predator model in mathematical biology. In this paper, we show that (1) some invariants exist which are expressed by dhLV variables and are independent from the discrete time and (2) a dhLV variable converges to some positive constant or zero as the discrete time becomes sufficiently large. Some characteristic polynomial is then factorized with the help of the dhLV system. The asymptotic behaviour of the dhLV system enables us to design an algorithm for computing complex eigenvalues of a certain band matrix

Bone mineral density and effects of growth hormone treatment in prepubertal children with Prader-Willi syndrome: a randomized controlled trial.

NARCIS (Netherlands)

Lind van Wijngaarden, R.F. de; Festen, D.A.M.; Otten, B.J.; Mil, E.G. van; Rotteveel, J.J.; Odink, R.J.; Leeuwen, M. van; Haring, D.A.; Bocca, G.; Mieke Houdijk, E.C.; Hokken-Koelega, A.C.S.

2009-01-01

BACKGROUND: Bone mineral density (BMD) is unknown in children with Prader-Willi syndrome (PWS), but is decreased in adults with PWS. In patients with GH deficiency, BMD increases during GH treatment. OBJECTIVES: The aim of the study was to evaluate BMD in children with PWS and to study the effects

Bone Mineral Density and Effects of Growth Hormone Treatment in Prepubertal Children with Prader-Willi Syndrome : A Randomized Controlled Trial

NARCIS (Netherlands)

van Wijngaarden, Roderick F. A. de Lind; Festen, Dederieke A. M.; Otten, Barto J.; van Mil, Edgar G. A. H.; Rotteveel, Joost; Odink, Roelof J.; van Leeuwen, Mariette; Haring, Danny A. J. P.; Bocca, Gianni; Houdijk, E. C. A. Mieke; Hokken-Koelega, Anita C. S.

2009-01-01

Background: Bone mineral density (BMD) is unknown in children with Prader-Willi syndrome (PWS), but is decreased in adults with PWS. In patients with GH deficiency, BMD increases during GH treatment. Objectives: The aim of the study was to evaluate BMD in children with PWS and to study the effects

[Calcium and bone metabolism across women's life stages. Bone metabolism of women in primary amenorrhea.

Science.gov (United States)

Higuchi, Tsuyoshi

For development of the bone during adolescence, the increased estrogen plays an important role especially in young women as well as GH/IGF-Ⅰ system. Although primary amenorrhea can be caused by various pathological factors, almost of cases have a dysfunction of estrogen secretory systems. For Turner syndrome, which is well-known disease with primary amenorrhea,it is generally recommended that the estrogen therapy is started at adolescence and gradually increased up to adult dose level. Recently studies about the adequate dose of estrogen and the adequate age of adult dose in Turner syndrome revealed that intervention with adult dose of estrogen is required as soon as possible for gaining better bone mineral. In the point of view for bone fragility at the future, early diagnosis and adequate intervention for primary amenorrhea is important.

Early relapse of Burkitt lymphoma heralded by a bone marrow necrosis and numb chin syndrome successfully treated with allogeneic stem cell transplantation.

Science.gov (United States)

Cerny, Jan; Devitt, Katherine; Yu, Hongbo; Ramanathan, Muthalagu; Woda, Bruce; Nath, Rajneesh

2014-01-01

The optimal salvage therapy for patients with relapsed Burkitt lymphoma is unknown. Bone marrow necrosis is an underreported (2 years after the transplant. To our knowledge, this is the longest reported survival of the two syndromes in the setting of BL relapse.

Femur Neck Fracture in a Young Marfan Syndrome Patient.

Science.gov (United States)

Kwon, Yong-Uk; Kong, Gyu-Min; Park, Jun-Ho

2016-12-01

Marfan syndrome is an autosomal dominant and could decrease bone mineral density. So patients with Marfan syndrome could vulnerable to trauma in old ages. We present the first report, to the best of our knowledge, of a rare fracture of the femoral neck with a minor traumatic history in a juvenile Marfan syndrome patient whose physis is still open. Although the patient is young, her bone mineral density was low and the geometry of femur is changed like old ages. The femur neck fracture in children is very rare and only caused by high energy trauma, we concluded that the Marfan syndrome makes the bone weaker in young age and preventative medications to avoid fractures in younger Marfan syndrome patients are necessary in early ages.

Effects of Growth Hormone on Bone.

Science.gov (United States)

Tritos, Nicholas A; Klibanski, Anne

2016-01-01

Describe the effects of growth hormone (GH) and insulin-like growth factor 1 (IGF-1) on the skeleton. The GH and IGF-1 axis has pleiotropic effects on the skeleton throughout the lifespan by influencing bone formation and resorption. GH deficiency leads to decreased bone turnover, delayed statural growth in children, low bone mass, and increased fracture risk in adults. GH replacement improves adult stature in GH deficient children, increases bone mineral density (BMD) in adults, and helps to optimize peak bone acquisition in patients, during the transition from adolescence to adulthood, who have persistent GH deficiency. Observational studies suggest that GH replacement may mitigate the excessive fracture risk associated with GH deficiency. Acromegaly, a state of GH and IGF-1 excess, is associated with increased bone turnover and decreased BMD in the lumbar spine observed in some studies, particularly in patients with hypogonadism. In addition, patients with acromegaly appear to be at an increased risk of morphometric-vertebral fractures, especially in the presence of active disease or concurrent hypogonadism. GH therapy also has beneficial effects on statural growth in several conditions characterized by GH insensitivity, including chronic renal failure, Turner syndrome, Prader-Willi syndrome, postnatal growth delay in patients with intrauterine growth retardation who do not demonstrate catchup growth, idiopathic short stature, short stature homeobox-containing (SHOX) gene mutations, and Noonan syndrome. GH and IGF-1 have important roles in skeletal physiology, and GH has an important therapeutic role in both GH deficiency and insensitivity states. Copyright © 2016 Elsevier Inc. All rights reserved.

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

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Jensen, K.E.; Nielsen, H.; Thomsen, C.; Soerensen, P.G.; Karle, H.; Christoffersen, P.; Henriksen, O. (Hvidovre Hospital, Copenhagen (Denmark). Dept. of Magnetic Resonance; Hvidovre Hospital, Copenhagen (Denmark). Dept. of Hematology; Hvidovre Hospital, Copenhagen (Denmark). Dept. of Pathology)

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-up examinations. At the time of diagnosis the T1 relaxation times of the vertebral bone marrow were significantly prolonged compared with normal values. The T1 relaxation times of the vertebral bone marrow in patients with MDS showed significantly lower values compared with patients with acute leukemia and did not differ from patients with polycythemia vera. (orig.).

Radioprotection against radiation induced bone marrow syndrome by a semi-synthetic derivative of chlorophyll

International Nuclear Information System (INIS)

Suryavanshi, Shweta; Sharma, Deepak; Checker, Rahul; Santosh Kumar, S.; Sainis, Krishna B.

2014-01-01

A plethora of biological properties have been attributed to chlorophyllin (CHL), the water soluble derivative of the green plant pigment chlorophyll. Several studies are available describing its ability to modify genotoxic effects. It has been shown that administration CHL to human lymphopenic individuals led to the recovery and restoration of the immune system and also inhibited aflatoxin B1-DNA binding in individuals residing in high risk exposure to this liver carcinogen. The present study is aimed at establishing radioprotective efficacy of CHL against ionizing radiation induced hematopoietic syndrome. CHL offered complete protection against whole body irradiation (WBI, 7 Gy) induced mortality in mice. This observation was supported by increase in the number of macroscopic endogenous colonies enumerated on the surface of the spleens taken from CHL+WBI group as compared to WBI group. Radioprotection by CHL was found to be mediated by increasing the frequency of hematopoietic stem cells (HSCs) as evaluated by side population assay. Administration of CHL induced G1 arrest in bone marrow cells, increased number of granulocytes and neutrophils in the peripheral blood. At the molecular level, activation of ERK was observed in bone marrow cells obtained from CHL administered mice. In conclusion, CHL mediated radioprotection was attributed to increased stem cell numbers, G1 arrest in bone marrow cells, increased neutrophil numbers and ERK activation. (author)

Revesz syndrome

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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.

Early relapse of Burkitt lymphoma heralded by a bone marrow necrosis and numb chin syndrome successfully treated with allogeneic stem cell transplantation

Directory of Open Access Journals (Sweden)

Jan Cerny

2014-01-01

Full Text Available The optimal salvage therapy for patients with relapsed Burkitt lymphoma is unknown. Bone marrow necrosis is an underreported (2 years after the transplant. To our knowledge, this is the longest reported survival of the two syndromes in the setting of BL relapse.

Spectrum of temporal bone abnormalities in patients with Waardenburg syndrome and SOX10 mutations.

Science.gov (United States)

Elmaleh-Bergès, M; Baumann, C; Noël-Pétroff, N; Sekkal, A; Couloigner, V; Devriendt, K; Wilson, M; Marlin, S; Sebag, G; Pingault, V

2013-01-01

Waardenburg syndrome, characterized by deafness and pigmentation abnormalities, is clinically and genetically heterogeneous, consisting of 4 distinct subtypes and involving several genes. SOX10 mutations have been found both in types 2 and 4 Waardenburg syndrome and neurologic variants. The purpose of this study was to evaluate both the full spectrum and relative frequencies of inner ear malformations in these patients. Fifteen patients with Waardenburg syndrome and different SOX10 mutations were studied retrospectively. Imaging was performed between February 2000 and March 2010 for cochlear implant work-up, diagnosis of hearing loss, and/or evaluation of neurologic impairment. Eleven patients had both CT and MR imaging examinations, 3 had MR imaging only, and 1 had CT only. Temporal bone abnormalities were bilateral. The most frequent pattern associated agenesis or hypoplasia of ≥1 semicircular canal, an enlarged vestibule, and a cochlea with a reduced size and occasionally an abnormal shape, but with normal partition in the 13/15 cases that could be analyzed. Three patients lacked a cochlear nerve, bilaterally in 2 patients. In addition, associated abnormalities were found when adequate MR imaging sequences were available: agenesis of the olfactory bulbs (7/8), hypoplastic or absent lacrimal glands (11/14), hypoplastic parotid glands (12/14), and white matter signal anomalies (7/13). In the appropriate clinical context, bilateral agenesis or hypoplasia of the semicircular canals or both, associated with an enlarged vestibule and a cochlear deformity, strongly suggests a diagnosis of Waardenburg syndrome linked to a SOX10 mutation.

Ehlers-Danlos Syndrome Hypermobility Type

Science.gov (United States)

EHLERS-DANLOS SYNDROME HYPERMOBILITY TYPE Ehlers-Danlos syndrome hypermobility type is a connective tissue disorder that mostly affects the bones and joints. People with this condition have loose joints ...

Bone dosimetry and scintigraphy in post-traumatic reflex sympathetic dystrophy syndrome (RSDS) with upper limb involvement

International Nuclear Information System (INIS)

Dore, F.; Casu, A.R.; Arru, A.; Vargiu, P.; Azzena, M.D.; Madeddu, G.; Melis, G.C.; Fumu, E.; Piga, M.

1991-01-01

In 24 patients affected with post-traumatic reflex sympathetic dystrophy syndrome (RSDS) with upper limb involvement following humeral fractures, bone mineral density (BMD, mg/cm 2 ) was measured by means of dual-photon absorptiometry in the distal radius of both the affected and the normal contralateral limbs. Subsequently, all patients underwent dynamic and static scintigraphic exams after i.v. injection of 99m Tc-MDP (20 mCi), with gamma camera collimator centered in both limbs. BMD values were significantly lower in the affected sides than in the normal contralateral ones. Time-activity curves with MDP showed increased flow in the involved limbs. Significant increase in blood pool and in bone uptake was also oserved. After carbocalcin treatment (80 U/q.d.i.m. in 12 cases and 40 U/q.d.i.m. in the other 12 cases for month) all the patients presented improved clinical symptoms and significant increase in BMD, that was restored to normal values in 7 of the patients who had a longer treatment (40 U/q.d.i.m. for 2 months). Both local blood flow and bone up-take in the affected side significantly decreased after carbocalcitonin therapy while bone avidity index increased in those patients in whom this parameter had been measured. Results confirmed the usefulness of radioisotopic procedures in post-traumatic RSDS for both diagnosis (by demonstrating increased local blood flow and early bone demineralization) and monitoring response to treatment with carbocalcitonin, which seems to play an important role in this condition

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

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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.

Evaluation of renal uptake on 111InCl3 bone marrow scintigraphy in patients with aplastic anemia and myelodysplastic syndrome

International Nuclear Information System (INIS)

Koizumi, Mitsuru; Goto, Masafumi; Nomura, Toshiharu; Watari, Tsutomu; Saito, Kenji

1993-01-01

High renal uptake on bone marrow scan with indium-111 chloride is often shown in patients with bone marrow abnormality. We evaluated the renal uptake on bone marrow scan in 27 cases of aplastic anemia, 20 cases of myelodysplastic syndrome (MDS) and 10 cases of other diseases. The high renal uptake was observed in patients not only with aplastic anemia but also with MDS. The renal uptake correlated with blood transfusion units, unsaturated iron binding capacity (UIBC), blood pool imaging and bone marrow uptake. The renal uptake correlated with UIBC better than with the blood transfusion units. Following mechanism of the renal uptake is proposed that frequent blood transfusion makes low UIBC, and the low UIBC causes the failure to chelate indium with transferrin. The fast blood clearance of un-chelated indium via kidneys is followed. Hypoplastic bone marrow may also play an important role for the high renal uptake because all patients with the high renal uptake could not be explained by above mentioned mechanism. Caution should be paid to the scans with the high renal uptake because both aplastic anemia and MDS patients show the high renal uptake. (author)

Progress in the clinical imaging research of bone diseases on ankle and foot sesamoid bones and accessory ossicles

Science.gov (United States)

Li, Xiaozhong; Shi, Lenian; Liu, Taiyun; Wang, Lin

2012-01-01

Summary Sesamoid bones and accessory ossicles are research focuses of foot and ankle surgery. Pains of the foot and ankle are related to sesamoid bones and accessory ossicles. The specific anatomical and functional relationship of sesamoid bones and accessory ossicles can cause such bone diseases as the dislocation of sesamoid bones and accessory bones, infection, inflammation and necrosis of sesamoid bones, cartilage softening, tenosynovitis of sesamoid bones and the sesamoid bone syndrome. However, these bone diseases are often misdiagnosed or mistreated. In patients with trauma history, relevant diseases of sesamoid bones and accessory ossicles as above mentioned are highly probable to be misdiagnosed as avulsion fractures. In such cases, radiographic findings may provide a basis for clinical diagnosis. PMID:25343083

Lack of Postprandial Peak in Brain-Derived Neurotrophic Factor in Adults with Prader-Willi Syndrome.

Directory of Open Access Journals (Sweden)

Marta Bueno

Full Text Available Prader-Willi syndrome (PWS is characterized by severe hyperphagia. Brain-derived neurotrophic factor (BDNF and leptin are reciprocally involved in energy homeostasis.To analyze the role of BDNF and leptin in satiety in genetic subtypes of PWS.Experimental study.University hospital.90 adults: 30 PWS patients; 30 age-sex-BMI-matched obese controls; and 30 age-sex-matched lean controls.Subjects ingested a liquid meal after fasting ≥10 hours.Leptin and BDNF levels in plasma extracted before ingestion and 30', 60', and 120' after ingestion. Hunger, measured on a 100-point visual analogue scale before ingestion and 60' and 120' after ingestion.Fasting BDNF levels were lower in PWS than in controls (p = 0.05. Postprandially, PWS patients showed only a truncated early peak in BDNF, and their BDNF levels at 60' and 120' were lower compared with lean controls (p<0.05. Leptin was higher in PWS patients than in controls at all time points (p<0.001. PWS patients were hungrier than controls before and after eating. The probability of being hungry was associated with baseline BDNF levels: every 50-unit increment in BDNF decreased the odds of being hungry by 22% (OR: 0.78, 95%CI: 0.65-0.94. In uniparental disomy, the odds of being hungry decreased by 66% (OR: 0.34, 90%CI: 0.13-0.9. Postprandial leptin patterns did no differ among genetic subtypes.Low baseline BDNF levels and lack of postprandial peak may contribute to persistent hunger after meals. Uniparental disomy is the genetic subtype of PWS least affected by these factors.

Association of non-traumatic complex regional pain syndrome with adenocarcinoma lung on 99mTc-MDP bone scan

International Nuclear Information System (INIS)

Damle, Nishikant A.; Tripathi, Madhavi; Singhal, Abhinav; Bal, Chandrasekhar; Praveen Kumar; Kandasamy, Devasenathipathi; Jana, Manisha

2012-01-01

Complex regional pain syndrome (CRPS) is usually associated with trauma. Rarely, it may be seen in association with malignancies. We present here the bone scan and X-ray findings in the case of a 56-year-male-patient with adenocarcinoma lung who also had non-traumatic CRPS without involvement of the stellate ganglion. The case highlights the fact that spontaneous development of reflex sympathetic dystrophy may be associated with a neoplastic etiology. (author)

Clinical aspects of bone marrow transplantation

International Nuclear Information System (INIS)

Shmitts, N.; Gassmann, V.; Leffler, G.

1986-01-01

Experience of bone marrow transplantation into patients with myeloproliferative syndromes, myelodysplasias and highly malignant lymphomas is presented. Side early and late effects of transplantation are described. The frequency and severity of complications of bone marrow transplantation depend sufficiently on the disease as well as on patient's age and general condition

The acquired hyperostosis syndrome

International Nuclear Information System (INIS)

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

1988-01-01

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. (orig.) [de

Bone morphogenetic protein signalling in colorectal cancer

NARCIS (Netherlands)

Hardwick, James C.; Kodach, Liudmila L.; Offerhaus, G. Johan; van den Brink, Gijs R.

2008-01-01

Much of the current understanding of colorectal cancer stems from the study of rare, inherited colorectal cancer syndromes. Mutations in the bone morphogenetic protein (BMP) pathway have been found in juvenile polyposis, an inherited polyposis syndrome that predisposes to colorectal cancer. The

Necrosis of the head of femur and bone marrow oedema syndrome in pregnancy. Hueftkopfnekrose und Knochenmarksoedemsyndrom in der Schwangerschaft

Energy Technology Data Exchange (ETDEWEB)

Kramer, J [Vienna Univ. (Austria). MR-Inst. Universitaetsklinik fuer Radiodiagnostik, Vienna (Austria); Hofmann, S [Orthopaedische Universitaetsklinik, Vienna (Austria) Forschungslabor fuer Knochen und Biomaterial, Vienna Univ. (Austria); Engel, A [Orthopaedische Universitaetsklinik, Vienna (Austria); Leder, K [Orthopaedisches Spital Speising, 2. Orthopaedische Abt., Vienna (Austria); Neuhold, A [Inst. fuere Bildgebende Diagnostik, Rudolfinerhaus, Vienna (Austria) Ludwig-Boltzmann-Inst. fuer Radiologische-Physikalische Tumordiagnostik, Vienna (Austria); Imhof, H [Vienna Univ. (Austria). MR-Inst. Universitaetsklinik fuer Radiodiagnostik, Vienna (Austria)

1993-08-01

MR examinations were performed in 9 patients suffering from severe pain of the hip during the third trimenon without any relief after birth. Pathologic signal changes could be observed in 11 hips (oedema in the region of the femoral head and neck (n=8); avascular necrosis of the femoral head surrounded by bone marrow oedema (n=3)). In 7 hips a relatively rapid decrease of the oedema following core decompression was demonstrated. Focal necrosis, however, did not show any changes. In two patients, treated conservatively, markedly delayed healing was evident. MR imaging is the modality of choice for early diagnosis as well as follow-up of therapy of the bone marrow oedema syndrome or avascular necrosis and can be performed already during pregnancy. (orig.)

Assessment of vertebral microarchitecture in overt and mild Cushing's syndrome using trabecular bone score.

Science.gov (United States)

Vinolas, Helene; Grouthier, Virginie; Mehsen-Cetre, Nadia; Boisson, Amandine; Winzenrieth, Renaud; Schaeverbeke, Thierry; Mesguich, Charles; Bordenave, Laurence; Tabarin, Antoine

2018-05-21

Osteoporotic fractures associated with Cushing's syndrome (CS) may occur despite normal bone mineral density (BMD). Few studies have described alterations in vertebral microarchitecture in glucocorticoid-treated patients and during CS. Trabecular bone score (TBS) estimates trabecular microarchitecture from dual-energy X-ray absorptiometry acquisitions. Our aim was to compare vertebral BMD and TBS in patients with overt CS and mild autonomous cortisol secretion (MACE), and following cure of overt CS. University Hospital. Monocentric retrospective cross-sectional and longitudinal studies of consecutive patients. A total of 110 patients were studied: 53 patients had CS (35, 11 and 7 patients with Cushing's disease, bilateral macronodular adrenal hyperplasia and ectopic ACTH secretion respectively); 39 patients had MACE (10 patients with a late post-operative recurrence of Cushing's disease and 29 patients with adrenal incidentalomas); 18 patients with non-secreting adrenal incidentalomas. 14 patients with overt CS were followed for up to 2 years after cure. Vertebral osteoporosis at BMD and degraded microarchitecture at TBS were found in 24% and 43% of patients with CS, respectively (P < .03). As compared to patients with nonsecreting incidentalomas, patients with MACE had significantly decreased TBS (P < .04) but not BMD. Overt fragility fractures tended to be associated with low TBS (P = .07) but not with low BMD. TBS, but not BMD values, decreased with the intensity of hypercortisolism independently of its aetiology (P < .01). Following remission of CS, TBS improved more markedly and rapidly than BMD (10% vs 3%, respectively; P < .02). Trabecular bone score may be a promising, noninvasive, widely available and inexpensive complementary tool for the routine assessment of the impact of CS and MACE on bone in clinical practice. © 2018 John Wiley & Sons Ltd.

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.

The Role od Bone Marrow Aspirate and Trephine Samples in ...

African Journals Online (AJOL)

Other disorders diagnosed after bone marrow examination include myelodysplastic syndrome (MDS), aplastic anaemia, megaloblastic anaemia and myelofibrosis. Only 8.75% of these patients had a normal bone marrow. Conclusions: This study has demonstrated the complexity of using bone marrow examination in ...

Cowden syndrome

Directory of Open Access Journals (Sweden)

Ravi Prakash S

2010-01-01

Full Text Available Cowden syndrome or multiple hamartoma syndrome is an autosomal dominant condition with variable expressions that result mainly from mutation in the PTEN gene on arm 10q. It is characterized by multiple hamartomatous neoplasms of the skin, oral mucosa, gastrointestinal tract, bones, CNS, eyes, and genitourinary tract. Mucocutaneous features include trichilemmomas, oral mucosal papillomatosis, acral keratosis, and palmoplantar keratosis. Here we present a case of Cowden syndrome in a 14-year-old female patient with the chief complaint of multiple oral papillomatous lesions.

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

OBJECTIVE: Our objective was to investigate the effect of pioglitazone on bone mineral density (BMD) and bone turnover markers in polycystic ovary syndrome (PCOS). DESIGN AND SETTING: We conducted a randomized, placebo-controlled study at an outpatient clinic at a university hospital. PATIENTS......: Thirty premenopausal patients with PCOS and 14 age- and weight-matched healthy females participated. INTERVENTIONS: Pioglitazone (30 mg/d) or placebo was given for 16 wk. MAIN OUTCOME MEASURES: Measurements of BMD [hip (neck and total) and lumbar spine (L2-L4)], bone metabolic parameters [alkaline...... phosphatase (ALP), 25-hydroxyvitamin D, C-telopeptide of type I collagen (ICTP), osteocalcin, and PTH], endocrine profiles (testosterone, estradiol, and insulin), and body composition (waist to hip ratio, body mass index, and whole-body dual-energy x-ray absorptiometry scans) were performed. RESULTS: Patients...

Libby/Hungry Horse Dams Wildlife Mitigation Habitat Protection : Interim Report.

Energy Technology Data Exchange (ETDEWEB)

Wood, Marilyn

1991-04-01

The Columbia River Basin Fish and Wildlife Program identified mitigation goals for Hungry Horse and Libby dams (1987). Specific programs goals included: (1) protect and/or enhance 4565 acres of wetland habitat in the Flathead Valley; (2) protect 2462 acres of prairie habitat within the vicinity of the Tobacco Plains Columbian sharp-tailed grouse; (3) protect 8590 acres riparian habitat in northwest Montana for grizzly and black bears; and (4) protect 11,500 acres of terrestrial furbearer habitat through cooperative agreements with state and federal agencies and private landowners. The purpose of this project is to continue to develop and obtain information necessary to evaluate and implement specific wildlife habitat protection actions in northwestern Montana. This report summarizes project work completed between May 1, 1990, and December 31, 1990. There were three primary project objectives during this time: obtain specific information necessary to develop the mitigation program for Columbian sharp-tailed grouse; continue efforts necessary to develop, refine, and coordinate the mitigation programs for waterfowl/wetlands and grizzly/black bears; determine the opportunity and appropriate strategies for protecting terrestrial furbearer habitat by lease or management agreements on state, federal and private lands. 19 refs., 1 tab.

Genetic features of myelodysplastic syndrome and aplastic anemia in pediatric and young adult patients

Science.gov (United States)

Keel, Siobán B.; Scott, Angela; Sanchez-Bonilla, Marilyn; Ho, Phoenix A.; Gulsuner, Suleyman; Pritchard, Colin C.; Abkowitz, Janis L.; King, Mary-Claire; Walsh, Tom; Shimamura, Akiko

2016-01-01

The clinical and histopathological distinctions between inherited versus acquired bone marrow failure and myelodysplastic syndromes are challenging. The identification of inherited bone marrow failure/myelodysplastic syndromes is critical to inform appropriate clinical management. To investigate whether a subset of pediatric and young adults undergoing transplant for aplastic anemia or myelodysplastic syndrome have germline mutations in bone marrow failure/myelodysplastic syndrome genes, we performed a targeted genetic screen of samples obtained between 1990–2012 from children and young adults with aplastic anemia or myelodysplastic syndrome transplanted at the Fred Hutchinson Cancer Research Center. Mutations in inherited bone marrow failure/myelodysplastic syndrome genes were found in 5.1% (5/98) of aplastic anemia patients and 13.6% (15/110) of myelodysplastic syndrome patients. While the majority of mutations were constitutional, a RUNX1 mutation present in the peripheral blood at a 51% variant allele fraction was confirmed to be somatically acquired in one myelodysplastic syndrome patient. This highlights the importance of distinguishing germline versus somatic mutations by sequencing DNA from a second tissue or from parents. Pathological mutations were present in DKC1, MPL, and TP53 among the aplastic anemia cohort, and in FANCA, GATA2, MPL, RTEL1, RUNX1, SBDS, TERT, TINF2, and TP53 among the myelodysplastic syndrome cohort. Family history or physical examination failed to reliably predict the presence of germline mutations. This study shows that while any single specific bone marrow failure/myelodysplastic syndrome genetic disorder is rare, screening for these disorders in aggregate identifies a significant subset of patients with inherited bone marrow failure/myelodysplastic syndrome. PMID:27418648

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

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.

Hadju-cheney syndrome

International Nuclear Information System (INIS)

Kawamura, J.; Matsubayashi, K.; Ogawa, M.

1981-01-01

The case of a 24-year-old man with Hadju-Cheney syndrome is reported. No similar disease occured in his family. Inverted and bulbous tips of fingers were noted at age 9 and protruded occipital bone at age 10. He complained of left facial spasm and facial tics for 1 year. Examination revealed a man of short stature, with a brachycephalic skull and hypertelorism. Radiologically there was an extreme degree of basilar impression with the basal angle of 180 degrees, demineralized spinal vertebrae, and acro-osteolysis. Both bone and CT scans demonstrated the abnormalities of the skull clearly. The basilar artery ran almost horizontally on angiography. He gradually deteriorated neurologically with bulbar, pyramidal and cerebellar signs and symptoms. Review of the literature revealed at least then non-familial and nine familial cases of this disorder. It is considered that this syndrome is a genetically determined generalized dysplastic bone disorder. (orig.)

Absence of uptake of the rib cage; diagnosis of a Poland's syndrome with the bone SPECT-CT

International Nuclear Information System (INIS)

Granier, P.; Mourad, M.

2008-01-01

We report the case of a 37-year-old man, investigated for pains of the right upper limb impairing the hand, the wrist and the shoulder after a surgery for fracture of the radius and the scaphoid. The 99m Tc-H.D.P. three-phase bone scintigraphy confirmed the diagnosis of acute phase of a reflex sympathetic dystrophy. The delayed images highlighted a focal absence of tracer uptake of the left anterior rib cage. The single photon emission computerized tomography guided by computerized tomography showed that it was related to the absence of the anterior part of the third and the fourth left ribs highlighting an aplasia of the left pectoralis major muscle. These anomalies led to the diagnosis of congenital malformation in connection with a Poland's syndrome. The differential diagnosis of this syndrome resulted in discussing the multiple etiologies of the photopenic lesions of the rib cage. (authors)

X-ray and CT findings of soft tissue and bone infections secondary to acquired immunodeficiency syndrome

International Nuclear Information System (INIS)

Jiang Songfeng; Liu Jinxin; Chen Bihua; Zhang Lieguang; Gan Qingxin; Huang Deyang

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 sacroiliac 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. (authors)

Whole-body and pinhole bone scintigraphic manifestations of Reiter`s syndrome: distribution patterns and early and characteristic signs

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Kim, Sung-Hoon; Chung, Soo-Kyo; Park, Young-Ha; Lee, Sung-Yong; Sohn, Hyung-Sun [Department of Nuclear Medicine, Catholic University Hospitals, Seoul (Korea, Republic of); Bahk, Yong-Whee [Department of Radiology, Samsung Cheil Hospital, Sungkyunkwan University College of Medicine, Seoul (Korea, Republic of)

1999-02-01

The characteristic whole-body and pinhole scintigraphic manifestations of osteo-enthesopathy and arthropathy in Reiter`s syndrome (RS) are described, with an emphasis on early diagnosis. We analysed 59 sets of whole-body and pinhole bone scintigrams of 59 patients with RS. The population comprised 47 men and 12 women with an age range from 15 to 53 years (mean=29.4). Bone scintigraphy was carried out 2-2.5 h after intravenous injection of technetium-99m hydroxydiphosphonate using a single-head gamma camera (Siemens Orbiter Model 6601) with a low-energy high-resolution and a 4-mm pinhole collimator for whole-body and pinhole scintigraphy, respectively. In total 262 lesions of osteo-enthesopathy and arthritis were detected on 59 whole-body scintigrams, an incidence of 4.4 lesions per patient. As anticipated, the lesional distribution was asymmetrical: 68% were in the lower limb skeleton and 32% in the axial and upper limb skeleton. Pinhole bone scintigraphy, applied selectively to one region of interest in each case, enabled us to accurately diagnose arthritis and osteo-enthesopathy. It was noteworthy that osteo-enthesopathy, alone or in combination with arthritis, occurred in 78.9%, and had a strong predilection for the foot bones, especially the calcaneus (25.6%). Pinhole scintigraphy detected enthesopathy in the absence of radiographic alteration in 14.1% of cases and portrayed characteristic signs of RS in 6.9%. Whole-body bone scintigraphy augmented with pinhole scintigraphy was found to be useful in order to panoramically display the systemic involvement pattern, to assess the characteristic bone and articular alterations and to detect early signs of RS. (orig.) With 10 figs., 3 tabs., 19 refs.

Zoledronic Acid Treatment in Primary Bone Marrow Edema Syndrome.

Science.gov (United States)

Flores-Robles, Bryan Josué; Sanz-Sanz, Jesus; Sanabria-Sanchinel, Adel Abel; Huntley-Pascual, Dixie; Andréu Sánchez, José Luis; Campos Esteban, José; Blanco, Ricardo; Merino-Argumanez, Carolina; Espinosa-Malpartida, Maria; Ramos-Giráldez, Maria Consuleo; Godoy-Tundidor, Hildegarde; Jiménez-Palop, Maria Mercedes; Barbadillo Mateos, Carmen; Villa-Alcázar, Luis Fernando; Isasi, Carlos Maria; Mulero, Juan Bartolome

2017-03-01

Primary bone marrow edema syndrome (BMES) is characterized by the combination of joint pain and distinctive magnetic resonance imaging changes. It has been suggested that the use of bisphosphonate drugs reduce symptom severity. Our objective was to review cases of patients diagnosed with BMES in the last 7 years who had been treated with zoledronic acid. Access to a pharmaceutical database was gained in order to obtain a list of zoledronic acid prescriptions. Based on clinical and MRI criteria for BMES, patients were selected. Baseline pain intensity was evaluated on a scale of 0 to 3 and was also assessed after 3 and 12 months. Functional recovery was evaluated by noting if a patient had returned to carrying out his or her normal daily activities. Out of 633 patients, 17 cases of BMES were identified (8 men), with a median age of 54 ± 14.1 years. The most frequently affected joint was the ankle (9), followed by the hip. Sixteen patients presented with moderate to severe pain initially. Of those patients, 13 had no pain after 12 months. Zoledronic acid is a option in the management of BMES, since 75% of patients treated with it presented with a complete response.

Turner′s syndrome presenting as metabolic bone disease

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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.

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%.

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-...... not differ from patients with polycythemia vera....

Evaluation of renal uptake on [sup 111]InCl[sub 3] bone marrow scintigraphy in patients with aplastic anemia and myelodysplastic syndrome

Energy Technology Data Exchange (ETDEWEB)

Koizumi, Mitsuru; Goto, Masafumi; Nomura, Toshiharu; Watari, Tsutomu; Saito, Kenji (Dokkyo Univ. School of Medicine, Mibu, Tochigi (Japan))

1993-04-01

High renal uptake on bone marrow scan with indium-111 chloride is often shown in patients with bone marrow abnormality. We evaluated the renal uptake on bone marrow scan in 27 cases of aplastic anemia, 20 cases of myelodysplastic syndrome (MDS) and 10 cases of other diseases. The high renal uptake was observed in patients not only with aplastic anemia but also with MDS. The renal uptake correlated with blood transfusion units, unsaturated iron binding capacity (UIBC), blood pool imaging and bone marrow uptake. The renal uptake correlated with UIBC better than with the blood transfusion units. Following mechanism of the renal uptake is proposed that frequent blood transfusion makes low UIBC, and the low UIBC causes the failure to chelate indium with transferrin. The fast blood clearance of un-chelated indium via kidneys is followed. Hypoplastic bone marrow may also play an important role for the high renal uptake because all patients with the high renal uptake could not be explained by above mentioned mechanism. Caution should be paid to the scans with the high renal uptake because both aplastic anemia and MDS patients show the high renal uptake. (author).

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...... (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...... in the SBS patients, and after 56 days of GLP-2 treatment there was no improvement in BMD. A significant reduction in PTH secretion in response to GLP-2 was observed only in patients with ileostomy. CONCLUSIONS: The decreased bone resorption in response to GLP-2 injections cannot be elicited in SBS patients...

Irradiated fields spared Stevens-Johnson syndrome in a patient undergoing radiotherapy for bone metastases

International Nuclear Information System (INIS)

Musio, D.; Parisi, E.; Dionisi, F.

2009-01-01

Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN) are two of the most severe, rare, and life-threatening adverse reactions to medications. Their incidence is approximately two patients per million population per year. Several cases have been reported in the literature in which SJS and TEN have occurred in patients with a neoplasm undergoing radiation therapy and who are taking an anticonvulsant. We report a case of SJS-TEN that developed in a 51-year-old woman with nonresectable non-small-cell lung cancer during treatment with phenobarbital plus radiation therapy for bone metastases but in whom the irradiated areas did not exhibit the SJS skin reaction. To our knowledge, no similar cases have been reported in the literature. (author)

Bone marrow edema of the knee joint

International Nuclear Information System (INIS)

Breitenseher, M.J.; Mayerhoefer, M.E.; Hofmann, S.

2006-01-01

Bone marrow edema of the knee joint is a frequent clinical picture in MR diagnostics. It can be accompanied by symptoms and pain in the joint. Diseases that are associated with bone marrow edema can be classified into different groups. Group 1 includes vascular ischemic bone marrow edema with osteonecrosis (synonyms: SONK or Ahlbaeck's disease), osteochondrosis dissecans, and bone marrow edema syndrome. Group 2 comprises traumatic or mechanical bone marrow edema. Group 3 encompasses reactive bone marrow edemas such as those occurring in gonarthrosis, postoperative bone marrow edemas, and reactive edemas in tumors or tumorlike diseases. Evidence for bone marrow edema is effectively provided by MRI, but purely morphological MR information is often unspecific so that anamnestic and clinical details are necessary in most cases for definitive disease classification. (orig.) [de

Turner Syndrome

Science.gov (United States)

... crowding, and osteoporosis (brittle bones). Because of their physical conditions, health concerns, and infertility, some girls and women with TS may have low self- esteem, anxiety, or depression. How is Turner syndrome diagnosed? Physical features may ...

Association between metabolic syndrome and bone fracture risk: A community-based study using a fracture risk assessment tool.

Science.gov (United States)

Yu, Chia-Ying; Chen, Fang-Ping; Chen, Li-Wei; Kuo, Sheng-Fong; Chien, Rong-Nan

2017-12-01

Osteoporosis and metabolic syndrome (MS) share similar risk factors. Previous studies of association between bone marrow density (BMD) and MS are controversial. Moreover, some studies revealed that MS is associated with BMD but not with bone fracture. In clinical practice, patients pay more attention to bone fracture risk than BMD values. Hence, this study aimed to evaluate the association between MS and the 10-year bone fracture risk probability using a fracture risk assessment tool (FRAX) from community-based data. From March 2014 to August 2015, 2689 participants (897 men and 1792 women) were enrolled in this study. Inflammatory cytokines, such as tumor necrosis factor alpha and C-reactive protein, and adipokines were included for analysis.The mean age was 60.2 ± 10.7 years in men and 58.9 ± 9.6 years in women. The percentage of MS was 27.6% in men and 27.9% in women. Participants were divided into 2 groups, those with or without MS. Compared with women without MS, women with MS had a higher rate of fracture risk (22.8% vs 16.3%, P = .001). In contrast, men with MS had a lower rate of fracture risk then men without MS (5.6% vs 12.3%, P = .004). However, MS loss the association with a high bone fracture risk in men based on multivariate logistical regression analysis, after adjusting for confounding factor of body mass index (BMI). Conclusively, the result of regression analysis between MS and the bone fracture risk may be different in men and women, and BMI was an important confounding factor to interfere with the regression analysis. Copyright © 2017 The Authors. Published by Wolters Kluwer Health, Inc. All rights reserved.

Goldenhar syndrome

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Neeraj Sharma

2013-01-01

Full Text Available Goldenhar syndrome is a syndrome of complex structures developing from first and second branchial arches during blastogenesis. The etiology of this rare disease is not fully understood, as it has shown itself variable genetically and of unclear causes. The disorder is characterized by a wide spectrum of symptoms and physical features that may vary greatly in range and severity from case to case. Here we present a unique case of Goldenhar syndrome with absence of left condyle, hypoplasia of the zygomatic bone, no pneumatization of the mastoid process, underdeveloped mandible, bifid tongue and the skin tags in the preauricular area.

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

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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.

Bone mineralization in childhood and adolescence.

Science.gov (United States)

Bachrach, L K

1993-08-01

Prevention of osteoporosis depends on establishing adequate peak bone mass in the first two decades of life. Achievement of this goal requires an understanding of factors that promote skeletal health. Genetic factors are important determinants of adult bone mass, but nonheritable variables, including body mass, calcium nutriture, sex steroids, and activity can strongly influence whether maximal bone mineral is achieved. Acquisition of bone mineral continues throughout childhood and adolescence, reaching a lifetime maximum in early adulthood. Adolescence is a particularly critical time for bone mineral accretion as more than half of the bone calcium is normally laid down during the teen years. Chronic illness, malnutrition, or endocrine deficiencies at this age may result in profound deficits in bone mass, which may not be fully reversible. These risk factors contribute to the osteopenia associated with anorexia nervosa, exercise-induced amenorrhea, delayed puberty, Turner's syndrome, and growth hormone deficiency.

vanishing bone disease in a tertiary teaching hospital in uganda

African Journals Online (AJOL)

prior to the above presentation and review of systems were unremarkable. General examination revealed a ... syndrome or disease, massive osteolysis, disappearing bone disease, vanishing bone disease, idiopathic ... patient symptoms and anatomic location. Medical treatment involves, radiation therapy, anti-osteoclastic.

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

Science.gov (United States)

Mavroudi, Irene; Papadaki, Helen A.

2012-01-01

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. PMID:22956967

Ehlers-Danlos syndrome(s) mimicking child abuse: Is there an impact on clinical practice?

Science.gov (United States)

Castori, Marco

2015-12-01

Ehlers-Danlos syndrome is a heterogeneous group of heritable connective tissue disorders characterized by increased fragility of various non-ossified tissues. It is usually ascertained due to abnormal skin texture, scarring complications, vascular fragility, or chronic symptoms, such as fatigue and musculoskeletal pain. Sometimes, Ehlers-Danlos syndrome remains undetected until the patient, usually in the pediatric age, shows extensive or severe mucocutaneous injuries after only minor traumas. In this scenario, the misdiagnosis of Ehlers-Danlos syndrome with child abuse is a possibility, as occasionally reported in the literature. Recently, more attention was posed by lay people between the possible association of Ehlers-Danlos syndrome and bone fragility. Literature and personal experience show a strong association between Ehlers-Danlos syndrome, generalized joint hypermobility and reduced bone mass density in older children and adults, especially fertile women. The existence of a true increased risk of fracture in Ehlers-Danlos syndrome is still a matter of debate in children and adults with little and conflicting evidence. In case of suspected child abuse, Ehlers-Danlos syndrome is certainly on the differential for bruising, especially in EDS types with marked cutaneous and capillary involvement. In suspected child abuse cases, careful examination of the index case and her/his extended family is routine, as well as exclusion of other disorders such as osteogenesis imperfecta. The hypothesis of Ehlers-Danlos syndrome as an alternative explanation for infantile fractures remains speculative. © 2015 Wiley Periodicals, Inc.

Lenticular disseminated dermatofibrosis and osteopoikilosis (Buschke-Ollendorf-syndrome)

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Lippelt, C; Petzel, H

1982-12-01

Presented are 4 cases showing combined occurrence of lenticular disseminated dermatofibrosis and osteopoikilosis (Buschke-Ollendorf syndrome). Histological findings of the skin show localized increases in elastic and collageneous structures. Type I of the Buschke-Ollendorf syndrome which is characterized by disseminated small pepper-corn like changes in the skin must be differentiated from type II which is named 'dermatofibrosis nodularis xanthomatoides multilokularis' with osteopoikilosis, showing larger, single or plaque like connected changes of the skin. The Buschke-Ollendorf syndrome is a congenital autosomal dominant hereditary abnormality arising from the mutual mesodermal genesis of skin and bone changes. The Buschke-Ollendorf syndrome occasionally brings about impaired growth and mental retardation as well as rheumatoid complaints. Osteopoikilosis always appears symmetrically showing different changes in the bones usually without changes in the skin; in the contrary the lenticular disseminated dermatofibrosis is always occurring combined with findings of osteopoikilosis. During the growing years we observed patients with an increase in size and density of the bone changes and also new lesions, while the skin changes remained nearly the same.

Lenticular disseminated dermatofibrosis and osteopoikilosis (Buschke-Ollendorf-syndrome)

International Nuclear Information System (INIS)

Lippelt, C.; Petzel, H.

1982-01-01

Presented are 4 cases showing combined occurrence of lenticular disseminated dermatofibrosis and osteopoikilosis (Buschke-Ollendorf syndrome). Histological findings of the skin show localized increases in elastic and collageneous structures. Type I of the Buschke-Ollendorf syndrome which is characterized by disseminated small pepper-corn like changes in the skin must be differentiated from type II which is named 'dermatodibrosis nodularis xanthomatoides multilokularis' with osteopoikilosis, showing larger, single or plaque like connected changes of the skin. The Buschke-Ollendorf syndrome is a congenital autosomal dominant hereditary abnormality arising from the mutual mesodermal genesis of skin and bone changes. The Buschke-Ollendorf syndrome occasionally brings about impaired growth and mental retardation as well as rheumatoid complaints. Osteopoikilosis always appears symmetrically showing different changes in the bones usually without changes in the skin; in the contrary the lenticular disseminated dermatofibrosis is always occurring combined with findings of osteopoikilosis. During the growing years we observed patients with an increase in size and density of the bone changes and also new lesions, while the skin changes remained nearly the same. (orig.)

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.

Myelodysplastic syndromes: histopathology as prognostic factor

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Romeo Maura

2001-01-01

Full Text Available Bone marrow biopsy allows evaluation of cellularity, abnormal localization of immature precursors and fibrosis in myelodysplastic syndrome. It has been considered important to make diagnosis and prognosis of this disorder. The object of this study evaluated the influence of histopathological parameters, such as cellularity, erythroid/myeloid ratio, abnormal localization of immature precursors and marrow fibrosis, on survival of myelodysplastic syndrome patients. Forty-six patients, admitted from April 1985 to June 1998, and diagnosed as being myelodysplastic syndrome according to French-American-British criteria, were selected. There were 20 males and 26 females, with median age of 61 years. Forty-six bone marrow smears and 36 trephine biopsies were reviewed. Mean survival of hypocellular cases was 64.8 months and of hyper and normocellular cases was 31.8 months. Patients with predominance of erythroid hyperplasia had mean survival of 50.8 months, greater than those with predominance of myeloid hyperplasia (20.3 months. There was no statistical difference in survival of patients with or without abnormal localization of immature precursors and with or without marrow fibrosis. Bone marrow biopsy is a useful tool for the identification of parameters that influence prognosis in myelodysplastic syndrome. Hypocellularity and erythroid hyperplasia were correlated with longer survival while myeloid hyperplasia with poorer survival.

Prader-Willi Syndrome

Science.gov (United States)

... syndrome can be helpful in genetic counseling. Complications Obesity-related complications In addition to having constant hunger, ... with this disorder are unable to have children. Osteoporosis. Osteoporosis causes bones to become weak and brittle, ...

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

The purpose of the present study is to evaluate the bi-iliac distance and the caudo-cranial position of the iliac bones in Ullrich-Turner syndrome (UTS) fetuses compared to recently published standards for normal fetuses. Whole-body radiographs in antero-posterior projections of 24 UTS fetuses...... in normal fetuses. The bi-iliac distance and the iliac bone position have not previously been described in Ullrich-Turner syndrome fetuses....

Kenny-Caffey syndrome type 1 in an Egyptian girl

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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.

Duplex ultrasound evidence of fat embolism syndrome

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Abdallah Naddaf, MD

2016-12-01

Full Text Available Fat embolism syndrome is a potentially fatal disease process most commonly associated with long-bone and pelvic fractures. Reports describing ultrasound evidence of fat emboli are restricted to echocardiography. We propose a new objective finding on venous duplex ultrasound imaging of the lower extremities as a useful diagnostic criterion by presenting the case reports of two patients with acute long-bone fractures, possibly leading to earlier orthopedic fixation and allocation of resources to those patients at higher risk of fat embolism syndrome.

Gradenigo's syndrome--surgical management in a child.

Science.gov (United States)

Humayun, Hassan Nabeel; Akhtar, Shabbir; Ahmed, Shakeel

2011-04-01

Otits media is a common problem. Some of its complications that were seen frequently in the preantibiotic era are rare today. We report a case of an 8 year boy who presented with earache, retro-orbital pain and diplopia secondary to a sixth nerve palsy--Gradenigo's syndrome. In this syndrome infection from the middle ear spreads medially to the petrous apex of the temporal bone. Work-up includes CT scan of the temporal bones. Timely management with intravenous antibiotics (+ surgery) is needed to prevent intra-cranial complications.

Prenatal diagnosis of a 1.6-Mb 4p16.3 interstitial microdeletion encompassing FGFRL1 and TACC3 associated with bilateral cleft lip and palate of Wolf-Hirschhorn syndrome facial dysmorphism and short long bones

Directory of Open Access Journals (Sweden)

Chih-Ping Chen

2017-12-01

Conclusion: Haploinsufficiency of FGFRL1 and TACC3 at 4p16.3 can be associated with bilateral cleft lip and palate of WHS facial dysmorphism and short long bones. Prenatal diagnosis of facial cleft with short long bones should raise a suspicion of chromosome microdeletion syndromes.

Biological dosimetry, diagnosis, and treatment of bone-marrow syndrome in victims of the Chernobyl accident

International Nuclear Information System (INIS)

Nugis, V.Yu.; Konchalovskii, M.V.

1993-01-01

During our medical investigation and treatment of victims of the Chernobyl accident, we obtained extensive clinical and laboratory data. The injuries to these victims were caused primarily by high external gamma and beta radiation doses. In some cases, these doses were accompanied by skin contamination by beta- and gamma-emitting radionuclides and by an intake of radionuclides, although the latter exposure mode was, for the most part, insignificant. Cytogenetic analysis of lymphocyte cultures of peripheral blood and bone marrow provided early estimations of radiation doses based on frequency of dicentrics. These dose estimates were well correlated with dose estimates derived from analysis of neutrophil numbers in peripheral blood. Early isolation of patients with acute radiation sickness (ARS), selective decontamination of the intestine, and application of a wide range of antibiotics and antifungal and antiviral medications helped avoid the development of fatal infections in many patients. Autological cryopreserved thrombocyte mass treatment was successfully used for victims in the second and third degree of ARS. Transplantation of allogenic bone marrow (13 cases) was ineffective and frequently caused fatal secondary sickness. As a whole, complications from widespread skin contamination by beta-emitting radionuclides, interstitial radiation pneumonia complicated by infection, and gastrointestinal syndrome were the leading factors in thanatogenesis. 21 refs., 10 figs., 5 tabs

Predictive role of prenasal thickness and nasal bone for Down syndrome in the second trimester.

Science.gov (United States)

Ozcan, Tulin; Özlü, Tülay; Allen, Julie; Peterson, Jeanne; Pressman, Eva K

2013-12-01

To assess the efficacy of prenasal thickness (PNT) and nasal bone (NB) for prediction of Down syndrome (DS) fetuses in the second trimester ultrasound examination. PNT was measured from stored two-dimensional fetal profile images taken at 15-23 weeks in 242 fetuses with normal karyotype (Group 1) and 24 fetuses with DS (Group 2). It was measured as the shortest distance from the anterior edge of the lowest part of the frontal bone to the skin. The efficacy of PNT, NB, PNT/NB and biparietal diameter (BPD)/NB was evaluated for prediction of DS. PNT values increased with gestational age in normal fetuses. PNT measurement was ≥95th percentile in 54.2% (13/24) of the DS cases and 2.9% of the normal cases. Receiver operator curve analysis showed that PNT/NB ratio had the best area under the curve with a detection rate of 80% for a false positive rate of 5% at a cut-off value of 0.76. PNT is increased in fetuses with DS as compared to normal fetuses. PNT/NB≥0.76 in the second trimester is a better predictor of DS than the use of PNT or NB alone. Copyright © 2013 Elsevier Ireland Ltd. All rights reserved.

Mortality of monkeys after exposure to fission neutrons and the effects of autologous bone marrow transplantation

International Nuclear Information System (INIS)

Broerse, J.J.; Bekkum, D.W. van; Hollander, C.F.; Davids, J.A.G.

1978-01-01

In order to assess the risk of exposure to ionizing radiation in man, and to evaluate the results of therapeutic measures, the mortality of rhesus monkeys irradiated with X-rays and fission neutrons and the effect of autologous bone marrow transplantation have been investigated. The LDsub(50/30d) values for X- and neutron-irradiated monkeys amount to 525 and 260 rad respectively, resulting in an r.b.e. of approximately 2 for the occurrence of the bone marrow syndrome. Protection of the animals by autologous bone marrow transplantation was observed up to doses of 860 rad of X-rays and 440 rad of fission neutrons. After both fission-neutron irradiation and X-irradiation in the lowest range of lethal doses, the bone marrow syndrome was found to occur without the concurrent incidence of the intestinal syndrome. The studies indicate that, for humans accidentally exposed to what would otherwise be lethal doses of fast neutrons, bone marrow transplantation may be beneficial. (author)

Flavour-flavour learning occurs automatically and only in hungry participants.

Science.gov (United States)

Brunstrom, Jeffrey M; Fletcher, Hollie Z

2008-01-28

A novel flavour may become liked if it is presented repeatedly and in combination with a second flavour that is already liked. Conceptually, this 'flavour-flavour learning' is important, because it can account for many of our everyday food and flavour preferences. However, relatively little is known about the underlying process because learning paradigms have lacked reliability. Based on previous research we explored whether learning is determined by three variables; i) hunger state, ii) demand and contingency awareness, and iii) dietary restraint. Participants (male n=15/female n=15) consumed three different and novel-tasting fruit teas. One of the teas had a non-caloric sweetener added (CS+) and two were unsweetened (CS-). Before and after this training the participants ranked their preference for unsweetened versions of the three teas. We found that the training increased preference for the CS+ relative to the CS- teas. However, this effect was only found in hungry participants. We also found little evidence that learning was related to whether the participants could identify (recognition test) the specific tea that had been sweetened during training, suggesting that the underlying process is automatic and it operates outside conscious awareness. Learning was not predicted by dietary restraint (measured using the DEBQ-R scale). Together, these findings provide further evidence for a linkage between flavour-flavour learning and flavour-nutrient learning.

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.

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

International Nuclear Information System (INIS)

Xiong, H.; Yang, X.Y.; Han, J.; Wang, Q.; Zou, Z.L.

2015-01-01

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

Bone marrow immunophenotyping by flow cytometry in refractory cytopenia of childhood

NARCIS (Netherlands)

A.M. Aalbers (Anna Maartje); M.M. van den Heuvel-Eibrink (Marry); I. Baumann (Irith); M.N. Dworzak (Michael); H. Hasle (Henrik); F. Locatelli (Franco); B. de Moerloose (Barbara); M. Schmugge; E. Mejstříková (Ester); M. Nováková (Michaela); M. Zecca (Marco); C.M. Zwaan (Christian Michel); J.G. te Marvelde (Jeroen); A.W. Langerak (Anton); J.J.M. van Dongen (Jacques); R. Pieters (Rob); C.M. Niemeyer (Charlotte); V.H.J. van der Velden (Vincent)

2015-01-01

textabstractRefractory cytopenia of childhood is the most common type of childhood myelodysplastic syndrome. Because the majority of children with refractory cytopenia have a normal karyotype and a hypocellular bone marrow, differentiating refractory cytopenia from the immune-mediated bone marrow

Findings of skin and bones in mastocytosis

International Nuclear Information System (INIS)

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

1982-01-01

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 inflammatorygranulomatous 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 frequenctly occurring bone lesions (half on 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. (orig.)

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.

Bone Marrow Edema: An MRI Diagnostic Clue in Patients with ...

African Journals Online (AJOL)

Results: bone marrow edema intrinsic to osseous lesions were noted in 22 patients. Bone marrow edema with associated soft tissue lesions were noted in 25 patients findings included tenosynovitis in 15, impingement syndromes in seven diabetic foot infection in two and diabetic osteoneuroarthropathy in one patient .

Chronic recurrent Gorham-Stout syndrome with cutaneous involvement

Directory of Open Access Journals (Sweden)

Nahum Duker

2010-09-01

Full Text Available Type IV osteolysis or Gorham-Stout syndrome is a rare condition characterized by recurrent vascular tumors that disrupt normal anatomical architecture. Gorham-Stout syndrome is most commonly associated with the skeletal system with resulting replacement of bone with scar tissue following tumor regression. The loss of entire bones has given Gorham-Stout syndrome the moniker vanishing bone disease. Natural progression of Gorham-Stout syndrome is characterized by spontaneous disease resolution. However, rare variants of recurrent, progressive, and/or systemic disease have been reported. We present a patient with a history of recurrent Gorham-Stout disease refractory to all treatment options considered. In addition to skeletal disease, our patient had soft tissue and cutaneous involvement, thus reflecting the more aggressive disease variant. Previous surgical attempts to control disease had been ineffective and the patient was referred to us for radiation therapy. Treatment with external beam radiation therapy resulted in good local control and symptom palliation, but full disease resolution was never accomplished. In addition to presentation of this patient, a review of the literature on etiological hypotheses and past/future treatment options was conducted and is included.

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…

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

Fenton's syndrome

International Nuclear Information System (INIS)

Rimondi, E.; Albasini, V.

1989-01-01

The authors report two recent cases of Fenton's syndrome, a very rare carpal fracture-dislocation. After some anatomophysiopathological considerations and a review of the literature, a wider nosographic frame is proposed in which the entity of the dislocation of the head of capitate bone is not essential. According to both the literature and personal findings, the authors remark that this syndrome is always found in the presence of two morphological variants of the distal radioulnar joint. Finally, the authors stress the importance of a corect diagnosis of this lesion to avoid unnecessary attempts of reduction

Bone-anchored maxillary expansion and bilateral interoral mandibular distraction osteogenesis in adult with severe obstructive sleep apnea syndrome.

Science.gov (United States)

Nie, Ping; Zhu, Min; Lu, Xiao-Feng; Fang, Bing

2013-05-01

Severe obstructive sleep apnea syndrome (OSAS) threatens patients' lives. To solve ventilation problem, snoring, and avoid another orthognathic surgery for mandibular advancement, bone-anchored rapid maxillary expansion and bilateral interoral mandibular distraction osteogenesis were tried on a 20-year-old Chinese male patient with severe skeletal class II malocclusion and OSAS.The patient had polysomnography (apnea-hypopnea index 54.2), body mass index measurement (19.7 kg/m), and cephalometry before the treatment. Bone-anchored rapid maxillary expansion was performed for the correction of maxillary transverse and minor sagittal deficiency and the improvement of nasal airflow by decreasing nasal resistance. Bilateral interoral mandibular distraction osteogenesis was operated to lengthen the small, retruded mandible by 15 mm. Orthodontic treatment after the maxillary expansion and mandibular distraction osteogenesis can help obtain stable occlusion.The Epworth Sleepiness Scale, a questionnaire for temporomandibular joint, cephalometric analysis, polysomnography, acoustic rhinometry, and multislice spiral computed tomography were performed to evaluate changes from the treatment. All the results showed that the patient had a significantly alleviated OSAS. In addition, an acceptable occlusion was also obtained.

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.

Oto-palato-digital syndrome (OPD)

International Nuclear Information System (INIS)

Beluffi, G.; Pazzaglia, U.; Fiori, P.

1987-01-01

Oto-palato-digital (OPD) or Tyabi syndrome is a familiar, X-linked bone dysplasia with intermediate expression, in females or autosomal dominant with more severe manifestations in males. In the past both the clinical features (flat face with sunken and broad nasal bridge, antimongoloid slant of palpebral fissures, palatoschysis, conductive deafness, short and broad thumbs and big toes, nail distrophy) and radiological findings (thick and dense base of the skull, prominence of supraorbital ridges, middle ear bone deformities with denseossicles, large and broad vertebral bodies, posterior defects of neural arches of the vertebrae, carpal and tarsal bone fusion, short and broad nail phalanges) have been well described and established. The present report describes 7 patients (4 females and 3 males) all belonging to the same family (the first described in this country) and all presenting the clinical and radiological features of OPD syndrome. A cranial and spinal CT was performed on one patient, with peculiar findings

Magnetic resonance imaging of the bone marrow

International Nuclear Information System (INIS)

Baur-Melnyk, Andrea

2013-01-01

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.

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.

Bisphosphonates Inhibit Pain, Bone Loss, and Inflammation in a Rat Tibia Fracture Model of Complex Regional Pain Syndrome.

Science.gov (United States)

Wang, Liping; Guo, Tian-Zhi; Hou, Saiyun; Wei, Tzuping; Li, Wen-Wu; Shi, Xiaoyou; Clark, J David; Kingery, Wade S

2016-10-01

Bisphosphonates are used to prevent the bone loss and fractures associated with osteoporosis, bone metastases, multiple myeloma, and osteogenesis deformans. Distal limb fractures cause regional bone loss with cutaneous inflammation and pain in the injured limb that can develop into complex regional pain syndrome (CRPS). Clinical trials have reported that antiresorptive bisphosphonates can prevent fracture-induced bone loss, inhibit serum inflammatory cytokine levels, and alleviate CRPS pain. Previously, we observed that the inhibition of inflammatory cytokines or adaptive immune responses attenuated the development of pain behavior in a rat fracture model of CRPS, and we hypothesized that bisphosphonates could prevent pain behavior, trabecular bone loss, postfracture cutaneous cytokine upregulation, and adaptive immune responses in this CRPS model. Rats underwent tibia fracture and cast immobilization for 4 weeks and were chronically administered either subcutaneously perfused alendronate or oral zoledronate. Behavioral measurements included hindpaw von Frey allodynia, unweighting, warmth, and edema. Bone microarchitecture was measured by microcomputed tomography, and bone cellular activity was evaluated by static and dynamic histomorphometry. Spinal cord Fos immunostaining was performed, and skin cytokine (tumor necrosis factor, interleukin [IL]-1, IL-6) and nerve growth factor (NGF) levels were determined by enzyme immunoassay. Skin and sciatic nerve immunoglobulin levels were determined by enzyme immunoassay. Rats with tibia fractures developed hindpaw allodynia, unweighting, warmth, and edema, increased spinal Fos expression and trabecular bone loss in the lumbar vertebra and bilateral distal femurs as measured by microcomputed tomography, increased trabecular bone resorption and osteoclast surface with decreased bone formation rates, increased cutaneous inflammatory cytokine and NGF expression, and elevated immunocomplex deposition in skin and nerve

Thickened cortical bones in congenital neutropenia

International Nuclear Information System (INIS)

Boechat, M.I.; Gormley, L.S.; O'Laughlin, B.J.

1987-01-01

Congenital neutropenia is an uncommon entity which may be familial and has a wide spectrum of clinical expression. Three sisters with the severe form of the disease, that suffered from recurrent infections which lead to their demise are described. Review of their radiographs revealed the presence of cortical thickening of the bones. Although several syndroms with different bone abnormalities have been reported associated with neutropenia, the radiographic finding of thickened cortex in children with congenital neutropenia has not been previously described. (orig.)

Thickened cortical bones in congenital neutropenia

Energy Technology Data Exchange (ETDEWEB)

Boechat, M.I.; Gormley, L.S.; O' Laughlin, B.J.

1987-02-01

Congenital neutropenia is an uncommon entity which may be familial and has a wide spectrum of clinical expression. Three sisters with the severe form of the disease, that suffered from recurrent infections which lead to their demise are described. Review of their radiographs revealed the presence of cortical thickening of the bones. Although several syndroms with different bone abnormalities have been reported associated with neutropenia, the radiographic finding of thickened cortex in children with congenital neutropenia has not been previously described.

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.

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.

Macrophage activation syndrome associated with griscelli syndrome type 2: case report and review of literature

Science.gov (United States)

Sefsafi, Zakia; Hasbaoui, Brahim El; Kili, Amina; Agadr, Aomar; Khattab, Mohammed

2018-01-01

Abstract Macrophage activation syndrome (MAS) is a severe and potentially fatal life-threatening condition associated with excessive activation and expansion of T cells with macrophages and a high expression of cytokines, resulting in an uncontrolled inflammatory response, with high levels of macrophage colony-stimulating factor and causing multiorgan damage. This syndrome is classified into primary (genetic/familial) or secondary forms to several etiologies, such as infections, neoplasias mainly hemopathies or autoimmune diseases. It is characterised clinically by unremitting high fever, pancytopaenia, hepatosplenomegaly, hepatic dysfunction, encephalopathy, coagulation abnormalities and sharply increased levels of ferritin. The pathognomonic feature of the syndrome is seen on bone marrow examination, which frequently, though not always, reveals numerous morphologically benign macrophages exhibiting haemophagocytic activity. Because MAS can follow a rapidly fatal course, prompt recognition of its clinical and laboratory features and immediate therapeutic intervention are essential. However, it is difficult to distinguish underlying disease flare, infectious complications or medication side effects from MAS. Although, the pathogenesis of MAS is unclear, the hallmark of the syndrome is an uncontrolled activation and proliferation of T lymphocytes and macrophages, leading to massive hypersecretion of pro-inflammatory cytokines. Mutations in cytolytic pathway genes are increasingly being recognised in children who develop MAS in his secondary form. We present here a case of Macrophage activation syndrome associated with Griscelli syndrome type 2 in a 3-years-old boy who had been referred due to severe sepsis with non-remitting high fever, generalized lymphoadenopathy and hepato-splenomegaly. Laboratory data revealed pancytopenia with high concentrations of triglycerides, ferritin and lactic dehydrogenase while the bone marrow revealed numerous morphologically benign

Relation between obesity and bone mineral density and vertebral fractures in Korean postmenopausal women.

Science.gov (United States)

Kim, Kyong-Chol; Shin, Dong-Hyuk; Lee, Sei-Young; Im, Jee-Aee; Lee, Duk-Chul

2010-11-01

The traditional belief that obesity is protective against osteoporosis has been questioned. Recent epidemiologic studies show that body fat itself may be a risk factor for osteoporosis and bone fractures. Accumulating evidence suggests that metabolic syndrome and the individual components of metabolic syndrome such as hypertension, increased triglycerides, and reduced high-density lipoprotein cholesterol are also risk factors for low bone mineral density. Using a cross sectional study design, we evaluated the associations between obesity or metabolic syndrome and bone mineral density (BMD) or vertebral fracture. A total of 907 postmenopausal healthy female subjects, aged 60-79 years, were recruited from woman hospitals in Seoul, South Korea. BMD, vetebral fracture, bone markers, and body composition including body weight, body mass index (BMI), percentage body fat, and waist circumference were measured. After adjusting for age, smoking status, alcohol consumption, total calcium intake, and total energy intake, waist circumference was negatively related to BMD of all sites (lumbar BMD p = 0.037, all sites of femur BMD p related to BMD of all sites (p related to femoral trochanter BMD (p = 0.0366) and was lower in the control group than the fracture group (p = 0.011). In contrast to the effect favorable body weight on bone mineral density, high percentage body fat and waist circumference are related to low BMD and a vertebral fracture. Some components of metabolic syndrome were related to BMD and a vertebral fracture.

How Exercise and Dietary Intervention Affect the Outcome of Osteosarcopenic Obesity Syndrome?

Directory of Open Access Journals (Sweden)

Pegah JafariNasabian

2018-05-01

Full Text Available Osteosarcopenic obesity (OSO is described as the simultaneous presence of osteopenia/osteoporosis, sarcopenia, and increased adiposity. Over time, older adults with OSO syndrome might be at greater risk for loss of physical function and bone fractures. Furthermore, a sedentary lifestyle, inadequate nutrition, pharmaceutical drugs, and chronic conditions encompass the multifactorial nature of OSO syndrome. Physical activity and a healthy diet play a crucial role in management and treatment of OSO syndrome. Research has shown that even low-intensity physical activity or daily habitual activity can maintain bone mineral density, muscle strength, and improve muscle quality, and reduce adiposity. However, older adults with high risk of fall and injuries require tailored exercise intensity. Also, balanced daily intake of vitamin D, calcium, and protein is important in prevention and treatment of OSO syndrome in postmenopausal women. Effective measurement of bone mass, muscle mass, and strength is required when detecting OSO syndrome and to evaluate the balance, strength and endurance of elder individuals and severity of the condition.

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.

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.

Mastoid abnormalities in Down syndrome

International Nuclear Information System (INIS)

Glass, R.B.J.; Yousefzadeh, D.K.; Roizen, N.J.

1989-01-01

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. (orig.)

Ellis van Creveld2 is required for postnatal craniofacial bone development

Science.gov (United States)

Badri, Mohammed K.; Zhang, Honghao; Ohyama, Yoshio; Venkitapathi, Sundharamani; Kamiya, Nobuhiro; Takeda, Haruko; Ray, Manas; Scott, Greg; Tsuji, Takehito; Kunieda, Tetsuo; Mishina, Yuji; Mochida, Yoshiyuki

2016-01-01

Ellis-van Creveld (EvC) syndrome is a genetic disorder with mutations in either EVC or EVC2 gene. Previous case studies reported that EvC patients underwent orthodontic treatment, suggesting the presence of craniofacial bone phenotypes. To investigate whether a mutation in EVC2 gene causes a craniofacial bone phenotype, Evc2 knockout (KO) mice were generated and cephalometric analysis was performed. The heads of wild type (WT), heterozygous (Het) and homozygous Evc2 KO mice (1-, 3- and 6-week-old) were prepared and cephalometric analysis based on the selected reference points on lateral X-ray radiographs was performed. The linear and angular bone measurements were then calculated, compared between WT, Het and KO and statistically analyzed at each time point. Our data showed that length of craniofacial bones in KO was significantly lowered by ~20% to that of WT and Het, the growth of certain bones, including nasal bone, palatal length and premaxilla was more affected in KO, and the reduction in these bone length was more significantly enhanced at later postnatal time points (3 and 6 weeks) than early time point (1 week). Furthermore, bone-to-bone relationship to cranial base and cranial vault in KO was remarkably changed, i.e. cranial vault and nasal bone were depressed and premaxilla and mandible were developed in a more ventral direction. Our study was the first to show the cause-effect relationship between Evc2 deficiency and craniofacial defects in EvC syndrome, demonstrating that Evc2 is required for craniofacial bone development and its deficiency leads to specific facial bone growth defect. PMID:27090777

Hemophagocytic syndrome secondary to tuberculosis at 24-week gestation.

Science.gov (United States)

Fernández, Alexandra Arteaga; de Velasco Pérez, David Fernández; Fournier, M C Jiménez; Moreno Del Prado, J C; Torras, B Paraíso; Cañete Palomo, M L

2017-01-01

Hemophagocytic syndrome is a life-threatening disease characterized by the uncontrolled activation of macrophages, resulting in hemophagocytosis of blood cells in the bone marrow. A 20-year-old gravida at 23-week and 5-day gestation was admitted to hospital to evaluate fever up to 104°F of unknown origin, moderate cytopenia, and elevated levels of liver enzymes. Bone marrow biopsy confirmed hemophagocytic syndrome, and polymerase chain reaction came back positive for Mycobacterium tuberculosis. Supportive care and tuberculosis treatment resulted in clinical improvement. At 27 weeks and 5 days, premature rupture of the membranes occurred, and because of the high probability of reactivating the hemophagocytic syndrome, a cesarean section was performed at 29-week and 2-day gestation. Hemophagocytic syndrome is an uncommon disease which rarely appears during pregnancy. Early diagnosis and treatment can save both maternal and fetal lives.

Giant cell tumor of distal phalanx in an adolescent with Goltz-Gorlin syndrome.

Science.gov (United States)

Borgers, A; Peters, S; Sciot, R; De Smet, L

2014-01-01

We report on a unique case of a young female patient with the Goltz-Gorlin syndrome who developed a giant cell tumor of bone in the distal phalanx of the thumb. This case is noteworthy because of the combination of some unusual features. Firstly, it is only the fifth case report on the association of giant cell tumor of bone and the Goltz-Gorlin syndrome. Also the localization of the lesion in the bones of the hand and the presentation at adolescent age is rarely seen.

Usefulness of asymmetry score on quantitative three-phase bone scintigraphy in the evaluation of complex regional pain syndrome

International Nuclear Information System (INIS)

Sampath, Santhosh; Mittal, Bhagwant Rai; Arun, Sasikumar; Sood, Ashwani; Bhattacharya, Anish; Sharma, Aman

2013-01-01

Complex regional pain syndrome (CRPS) is primarily a clinical diagnosis. Diagnostic imaging in CRPS can be used, especially to exclude other disorders. The sensitivity and specificity of three phase bone scintigraphy (TPBS) for the diagnosis of CRPS is variable throughout the literature. To establish a simple and effective quantitative approach to help in the diagnosis of CRPS by TPBS. TPBS done in patients (n = 68) with suspected CRPS was analyzed retrospectively. They were classified into bone scan positive group (BSP), bone scan negative group (BSN) and non-CRPS group based on diffusely increased periarticular uptake, symmetrical uptake, and focal uptake respectively. Asymmetry score (AS) was also measured between the affected and unaffected side. 16 patients showed focal uptake, 37 were in BSP group with mean AS score of 1.57 ± 0.5 and 15 were in BSN group with mean AS score of 1.01 ± 0.05. The mean AS was significantly different (P < 0.0001). AS of 1.06 had sensitivity and specificity of 96.43% and 100% respectively (P = 0.0001). There was a trend of negative correlation between the AS and the duration, r = −0.21; however, it was not statistically significant (P = 0.28). TPBS should be considered in the evaluation of CRPS to rule out patients who have focal involvement, not diagnostic of CRPS (~24% in this study). Quantitative AS of 1.06 can be included to support visual interpretation in the delayed phase

Noonan syndrome: an update on growth and development.

Science.gov (United States)

Yart, Armelle; Edouard, Thomas

2018-02-01

To provide an update on recent developments on Noonan syndrome with a special focus on endocrinology, bone, and metabolism aspects. The key issues still to be resolved and the future therapeutic perspectives will be discussed. The discovery of the molecular genetic causes of Noonan syndrome and Noonan-syndrome-related disorders has permitted us to better understand the mechanisms underlying the different symptoms of these diseases and to establish genotype-phenotype correlations (in growth patterns for example). In addition to the classical clinical hallmarks of Noonan syndrome, new important aspects include decreased fertility in men, lean phenotype with increased energy expenditure and possible impact on carbohydrate metabolism/insulin sensitivity, and impaired bone health. Further clinical studies are needed to investigate the long-term impact of these findings and their possible interconnections. Finally, the understanding of the crucial role of RAS/mitogen-activated protein kinases dysregulation in the pathophysiology of Noonan syndrome allows us to devise new therapeutic approaches. Some agents are currently undergoing clinical trials in Noonan syndrome patients. On the last 10 years, our knowledge of the molecular basis and the pathophysiology of Noonan syndrome has greatly advanced allowing us to gain insight in all the aspects of this disease and to devise new specific therapeutic strategies.

Spondylocarpotarsal synostosis syndrome (not rare but infrequently recognised syndrome)

International Nuclear Information System (INIS)

Marik, I.; Kaissi, A.; Ghachem, M.; Chehida, F.; Safi, H.; Masel, J.; Kozlowsk, K.

2006-01-01

Spondylocarpotarsal synostosis syndrome - a rarely recognised entity - is characterised by malsegmentation of the spine and carpal/tarsal fusions. The main reason for the rarity of its diagnosis is that radiographs of the hands and feet are not routinely performed in children with scoliosis and/or kyphoscoliosis, and fusion of the carpal/tarsal bones may not be evident in preschool children. We report four patients with spondylocarpotarsal synostosis syndrome; the diagnosis in three of these was not made until radiographs of the hands were performed. The amount of scoliosis was much less evident in two of these patients (sibs) than in the others. (author)

Syndrome of arachnomelia in Simmental cattle

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Weppert Myriam

2008-10-01

Full Text Available Abstract Background The syndrome of arachnomelia is an inherited malformation mainly of limbs, back and head in cattle. At present the arachnomelia syndrome has been well known mainly in Brown Swiss cattle. Nevertheless, the arachnomelia syndrome had been observed in the Hessian Simmental population during the decade 1964–1974. Recently, stillborn Simmental calves were observed having a morphology similar to the arachnomelia syndrome. The goal of this work was the characterization of the morphology and genealogy of the syndrome in Simmental to establish the basis for an effective management of the disease. Results The first pathologically confirmed arachnomelia syndrome-cases in the current Simmental population appeared in the year 2005. By 2007, an additional 140 calves with the arachnomelia syndrome were identified. The major pathological findings were malformed bones affecting the head, long bones of the legs and the vertebral column. It could be shown that, with the exception of two cases that were considered as phenocopies, all of the paternal and about two-third of the maternal pedigrees of the affected calves could be traced back to one common founder. Together with the data from experimental matings, the pedigree data support an autosomal recessive mutation being the etiology of the arachnomelia syndrome. The frequency of the mutation in the current population was estimated to be 3.32%. Conclusion We describe the repeated occurrence of the arachnomelia syndrome in Simmental calves. It resembles completely the same defect occurring in the Brown Swiss breed. The mutation became relatively widespread amongst the current population. Therefore, a control system has to be established and it is highly desirable to map the disease and develop a genetic test system.

Complete heart block in a patient with POEMS syndrome: A case report

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Farzaneh Ashrafi

2014-09-01

Full Text Available BACKGROUND: Polyneuropathy, organomegaly, endocrinopathy, monoclonal syndrome (POEMS is a rare paraneoplastic syndrome associated with plasma cell dyscrasia. CASE REPORT: A 48-year-old man presented with a 1-year history of paresthesia and progressive weakness of extremities. Diagnosis of POEMS syndrome was made for him on the basis of clinical presentation, additional physical findings, typical sclerotic bone lesion, and bone marrow findings. In last admission, he explained episodes of dyspnea and chest pain that associated with frequent premature ventricular contraction in his electrocardiograph. Patient heart monitoring showed some episodes of complete heart block. Infra-His atrioventricular block in electro-physiologic study was detected. He had no history of ischemic heart disease. His cardiopulmonary findings on examination were normal. All results of cardiac biomarkers and serum electrolytes and repeated echocardiography were within normal range. Cong red staining of rectal fat pad biopsy was negative. After pacemaker insertion radiation of sclerotic bone, lesion started for him, but radiotherapy was ineffective, and he expired with respiratory failure. Complete heart block in POEMS syndrome has not been reported previously, and it is the first POEMS case with complete heart block. CONCLUSION: Complete heart block is a cardiac manifestation of POEMS syndrome.   Keywords: Complete Heart Block, POEM Syndrome, Multiple Meloma 

High Prevalence of Suboptimal Vitamin D Status and Bone Loss in Adult Short Bowel Syndrome Even After Weaning Off Parenteral Nutrition.

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Fan, Shengxian; Ni, Xiaodong; Wang, Jian; Zhang, Yongliang; Tao, Shen; Kong, Wencheng; Li, Yousheng; Li, Jieshou

2017-04-01

Previous studies have noticed the high incidence of suboptimal vitamin D (VtD) status and bone loss in short bowel syndrome (SBS) with parenteral nutrition (PN) dependence. However, limited data have focused on adult SBS without PN dependence. Therefore, our objective was to investigate the incidence and risk factors of suboptimal VtD status and bone loss in adult SBS even after weaning off PN. We performed a prospective study of 60 adult patients with SBS. Serum 25-hydroxyvitamin D (25-OHD) was measured by radioimmunoassay. Bone mineral density (BMD) was measured using dual-energy x-ray absorptiometry (DEXA). Medical records and various laboratory parameters were collected in all participants. Suboptimal VtD status was identified in all individuals, including 3 (5.0%) with VtD insufficiency and 57 (95.0%) with VtD deficiency. Residual small bowel length (B, 0.072, P = .001) and duration of SBS (B, -0.066, P = .020) were both significantly correlated with suboptimal VtD levels. Overall, only 2 patients presented a normal BMD; osteopenia and osteoporosis were noted in 41 (68.3%) and 17 (28.3%) individuals, respectively. Low 25-OHD concentration was associated with a decreased BMD (B, 0.065, P = .029). There were no other demographic characteristics or clinical examinations associated with suboptimal VtD levels and bone loss. Suboptimal VtD status and bone loss were common in adult SBS even after weaning off PN. Despite routine oral VtD supplementation, most patients did not achieve satisfactory status. This emphasizes the critical importance of routine surveillance of 25-OHD and BMD, as well as consideration of alternative methods of supplementation after weaning off PN.

Growth-reductive therapy in children with marfan syndrome

NARCIS (Netherlands)

Rozendaal, L.; le Cessie, S.; Wit, J. M.; Hennekam, R. C. M.

2005-01-01

To determine the accuracy and precision of 2 height-prediction methods in Marfan syndrome and to assess the growth-reductive effect and side effects of sex hormone treatment. In a retrospective study in 31 untreated (17 boys) and 43 treated patients (21 boys) with Marfan syndrome, we assessed bone

Concomitant occurrence of cochleosaccular dysplasia and Down's syndrome.

Science.gov (United States)

Walby, A P; Schuknecht, H F

1984-07-01

Inherited cochleosaccular dysplasia occurred in a woman coincidentally with Down's syndrome. Study of the right temporal bone revealed abnormalities of the cochlea and saccule consistent with Scheibe 's original description. There was also a short cochlea and small lateral semicircular canal consistent with previous descriptions of Down's syndrome.

Hormonal alterations in PCOS and its influence on bone metabolism.

Science.gov (United States)

Krishnan, Abhaya; Muthusami, Sridhar

2017-02-01

According to the World Health Organization (WHO) polycystic ovary syndrome (PCOS) occurs in 4-8% of women worldwide. The prevalence of PCOS in Indian adolescents is 12.2% according to the Indian Council of Medical Research (ICMR). The National Institute of Health has documented that it affects approximately 5 million women of reproductive age in the United States. Hormonal imbalance is the characteristic of many women with polycystic ovarian syndrome (PCOS). The influence of various endocrine changes in PCOS women and their relevance to bone remains to be documented. Hormones, which include gonadotrophin-releasing hormone (GnRH), insulin, the leutinizing/follicle-stimulating hormone (LH/FSH) ratio, androgens, estrogens, growth hormones (GH), cortisol, parathyroid hormone (PTH) and calcitonin are disturbed in PCOS women. These hormones influence bone metabolism in human subjects directly as well as indirectly. The imbalance in these hormones results in increased prevalence of osteoporosis in PCOS women. Limited evidence suggests that the drugs taken during the treatment of PCOS increase the risk of bone fracture in PCOS patients through endocrine disruption. This review is aimed at the identification of the relationship between bone mineral density and hormonal changes in PCOS subjects and identifies potential areas to study bone-related disorders in PCOS women. © 2017 Society for Endocrinology.

Hemophagocytic syndrome secondary to tuberculosis at 24-week gestation

Directory of Open Access Journals (Sweden)

Alexandra Arteaga Fernández

2017-01-01

Full Text Available Hemophagocytic syndrome is a life-threatening disease characterized by the uncontrolled activation of macrophages, resulting in hemophagocytosis of blood cells in the bone marrow. A 20-year-old gravida at 23-week and 5-day gestation was admitted to hospital to evaluate fever up to 104°F of unknown origin, moderate cytopenia, and elevated levels of liver enzymes. Bone marrow biopsy confirmed hemophagocytic syndrome, and polymerase chain reaction came back positive for Mycobacterium tuberculosis. Supportive care and tuberculosis treatment resulted in clinical improvement. At 27 weeks and 5 days, premature rupture of the membranes occurred, and because of the high probability of reactivating the hemophagocytic syndrome, a cesarean section was performed at 29-week and 2-day gestation. Hemophagocytic syndrome is an uncommon disease which rarely appears during pregnancy. Early diagnosis and treatment can save both maternal and fetal lives.

Primary myelodysplastic syndrome with complex chromosomal rearrangements in a patient with Klinefelter's syndrome.

OpenAIRE

Abidi, S M; Griffiths, M; Oscier, D G; Mufti, G J; Hamblin, T J

1986-01-01

A patient with Klinefelter's syndrome and diabetes mellitus was diagnosed as having myelodysplasia. Cytogenetic analysis of the peripheral blood and the bone marrow cells confirmed the presence of a constitutional 47,XXY chromosome complement. In addition, complex karyotypic abnormalities were present.

Case report: Subutaneous hemangiomatosis causing Kasabach-Merritt syndrome – MRI features

International Nuclear Information System (INIS)

Jain, Tarun P; Sharma, Raju; Gupta, Rohini

2008-01-01

Hemangiomatosis is an uncommon entity in which there is diffuse infiltration of soft tissue or bone by hemangioma. Kasabach-Merritt syndrome is an uncommon complication of large hemangiomas, in which there is thrombocytopenia and coagulopathy. Plain radiographs, in addition to showing a soft tissue mass, also show a variety of findings in the bones. MRI is the investigation of choice. A case of a 2-year-old child suffering from hemangiomatosis and a resultant Kasabach-Merritt syndrome is presented

[Synthetic human calcitonin in Paget's disease of bone and osteoporosis (author's transl)].

Science.gov (United States)

Nuti, R; Vattimo, A

1981-01-30

Synthetic human calcitonin was used in the treatment of 26 patients over a period of 1-14 months. 17 patients had Paget's disease of the bone, 6 postmenopausal osteoporosis and 3 Sudeck's syndrome. Subjective improvement (reduction of pain, improvement of mobility) was found in 15 patients with Paget's disease, in 4 females with postmenopausal osteoporosis and in all 3 patients with Sudeck's syndrome. Radiographic improvement of bone changes developed only very slowly. These results were confirmed by diminution of the exchangeable calcium pool indicating reduction of rates of osseous degradation. Calcitonin tolerance was acceptable. Transitory nausea and occasional vomiting occurred in 3 patients.

Chondroectodermal dysplasia: a rare syndrome.

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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.

Caudal regression syndrome : a case report

International Nuclear Information System (INIS)

Lee, Eun Joo; Kim, Hi Hye; Kim, Hyung Sik; Park, So Young; Han, Hye Young; Lee, Kwang Hun

1998-01-01

Caudal regression syndrome is a rare congenital anomaly, which results from a developmental failure of the caudal mesoderm during the fetal period. We present a case of caudal regression syndrome composed of a spectrum of anomalies including sirenomelia, dysplasia of the lower lumbar vertebrae, sacrum, coccyx and pelvic bones,genitourinary and anorectal anomalies, and dysplasia of the lung, as seen during infantography and MR imaging

Caudal regression syndrome : a case report

Energy Technology Data Exchange (ETDEWEB)

Lee, Eun Joo; Kim, Hi Hye; Kim, Hyung Sik; Park, So Young; Han, Hye Young; Lee, Kwang Hun [Chungang Gil Hospital, Incheon (Korea, Republic of)

1998-07-01

Caudal regression syndrome is a rare congenital anomaly, which results from a developmental failure of the caudal mesoderm during the fetal period. We present a case of caudal regression syndrome composed of a spectrum of anomalies including sirenomelia, dysplasia of the lower lumbar vertebrae, sacrum, coccyx and pelvic bones,genitourinary and anorectal anomalies, and dysplasia of the lung, as seen during infantography and MR imaging.

Larsen syndrome

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Mohammed Mahbubul Islam

2016-08-01

Full Text Available Larsen syndrome is a rare inherited disorder characterized by congenital dislocation of multiple joints along with other anomalies of heart, face, hands and bones. Larsen syndrome was first described in 1950 by Larsen, Schottstaedt and Bost. In the present report, we describe a 10 year old girl who presented with mid facial hypoplasia with depressed nasal bridge, high arched palate, bilateral talipes equinovarus and high arched feet. On examination, she had short stature (HAZ -3.5 SD with hyperextension of knee joint, fixed flexion of elbow joint. Awareness of this condition and associated complications may help in management and follow up of these patients. 

Erk1 positively regulates osteoclast differentiation and bone resorptive activity.

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Yongzheng He

Full Text Available The extracellular signal-regulated kinases (ERK1 and 2 are widely-expressed and they modulate proliferation, survival, differentiation, and protein synthesis in multiple cell lineages. Altered ERK1/2 signaling is found in several genetic diseases with skeletal phenotypes, including Noonan syndrome, Neurofibromatosis type 1, and Cardio-facio-cutaneous syndrome, suggesting that MEK-ERK signals regulate human skeletal development. Here, we examine the consequence of Erk1 and Erk2 disruption in multiple functions of osteoclasts, specialized macrophage/monocyte lineage-derived cells that resorb bone. We demonstrate that Erk1 positively regulates osteoclast development and bone resorptive activity, as genetic disruption of Erk1 reduced osteoclast progenitor cell numbers, compromised pit formation, and diminished M-CSF-mediated adhesion and migration. Moreover, WT mice reconstituted long-term with Erk1(-/- bone marrow mononuclear cells (BMMNCs demonstrated increased bone mineral density as compared to recipients transplanted with WT and Erk2(-/- BMMNCs, implicating marrow autonomous, Erk1-dependent osteoclast function. These data demonstrate Erk1 plays an important role in osteoclast functions while providing rationale for the development of Erk1-specific inhibitors for experimental investigation and/or therapeutic modulation of aberrant osteoclast function.

Neurologic disturbances in case of breast cancer disseminated into cranial bones

International Nuclear Information System (INIS)

Tarasyuk, S.V.; Letyagin, V.P.

1986-01-01

The paper presents data on 52 cases of breast cancer disseminated into cranial vault bones (2 into the orbit). Metastases into the brain (2) and meninges (6) were detected in 17 cases with the aid of computerized tomography of the brain and examination of cerebrospinal fluid. The latter cases were not included into the study group. Metastases into cranial bones were identified by craniography and scanning of the skeleton. Half the patients (18 out of 35) revealed the following neurologic syndromes which were determined by the site of metastases into cranial vault bones and tumour growth pattern (into cranial cavity or soft tissues of the head): lesions in ramus primus nervi trigemini, greater occipital nerve, migraine, pseudotumorous and pseudoencephalitic syndromes. Cases of such neurologic disorders require an all-round examination including ophthalmooscopy, EEG, computerized tomography of the brain, craniography and scanning of the skeleton

Image acquisitions, processing and analysis in the process of obtaining characteristics of horse navicular bone

Science.gov (United States)

Zaborowicz, M.; Włodarek, J.; Przybylak, A.; Przybył, K.; Wojcieszak, D.; Czekała, W.; Ludwiczak, A.; Boniecki, P.; Koszela, K.; Przybył, J.; Skwarcz, J.

2015-07-01

The aim of this study was investigate the possibility of using methods of computer image analysis for the assessment and classification of morphological variability and the state of health of horse navicular bone. Assumption was that the classification based on information contained in the graphical form two-dimensional digital images of navicular bone and information of horse health. The first step in the research was define the classes of analyzed bones, and then using methods of computer image analysis for obtaining characteristics from these images. This characteristics were correlated with data concerning the animal, such as: side of hooves, number of navicular syndrome (scale 0-3), type, sex, age, weight, information about lace, information about heel. This paper shows the introduction to the study of use the neural image analysis in the diagnosis of navicular bone syndrome. Prepared method can provide an introduction to the study of non-invasive way to assess the condition of the horse navicular bone.

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.

Bone scintigraphy in polyostotic fibrous dysplasia

Energy Technology Data Exchange (ETDEWEB)

Wadhwa, S.S.; Mansberg, R.; Fernandes, V.B. [Illawarra Regional Hospital, Wollongong, NSW, (Australia)

1998-03-01

Fibrous dysplasia is a benign skeletal disorder of unknown aetiology. Fibrous dysplasia characteristically involves the fibrous replacement of portions of the medullary cavities of a single bone (monostotic) or multiple bones (polyostotic). Bones typically involved include the femurs, tibiae, ribs and maxillae. The polyostotic form may be accompanied by skin pigmentation and endocrine abnormalities (McCune Allbright Syndrome). Radiological findings in fibrous dysplasia are variable, ranging from completely radiolucent to radio-opaque lesions, depending on the amount of fibrous or osseous tissue deposited in the medulla. The most common radiographic finding is that of a ground glass-like semi-opaque lesion. Case reports on scintigraphic manifestation of fibrous dysplasia are scanty. We present radiological and scintigraphic findings of polyostotic fibrous dysplasia in a young male. (authors). 3 refs., 1 fig.

Distinctive skeletal dysplasia in Cockayne syndrome

International Nuclear Information System (INIS)

Silengo, M.C.; Franceschini, P.; Bianco, R.; Biagioli, M.; Pastorin, L.; Vista, N.; Baldassar, A.; Benso, L.

1986-01-01

Cockayne syndrom 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 involvment of the spine. (orig.)

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.

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.

SAPHO: syndrome or concept? Imaging findings

Energy Technology Data Exchange (ETDEWEB)

Earwaker, J.W.S. [Department of Medical Imaging, Holy Spirit Hospital, Brisbane (Australia); Cotten, A. [Service de Radiologie OsteoArticulaire, Hopital Roger Salengro, Lille (France)

2003-06-01

The SAPHO syndrome was a term coined to include a variety of musculoskeletal disorders associated with skin conditions, mainly palmoplantar pustulosis and acne conglobata. It is more correctly a spectrum which includes the following: skin lesions, osteoarticular manifestations of synovitis hyperostosis and osteitis affecting particular target sites, and.a clinical course marked by relapses and remissions. The major sites of involvement are the anterior chest wall, the spine, long bones, flat bones, and large and small joints. The distribution and severity of involvement varies from the adult to the pediatric form of chronic recurrent multifocal osteomyelitis (CRMO). The diagnosis of SAPHO syndrome is not difficult when the typical osteoarticular lesions are located in characteristic target sites. The diagnosis is more difficult if atypical sites are involved and there is no skin disease. (orig.)

Ellis-Van Creveld syndrome

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Le Merrer Martine

2007-06-01

Full Text Available Abstract Ellis-van Creveld syndrome (EVC is a chondral and ectodermal dysplasia characterized by short ribs, polydactyly, growth retardation, and ectodermal and heart defects. It is a rare disease with approximately 150 cases reported worldwide. The exact prevalence is unknown, but the syndrome seems more common among the Amish community. Prenatal abnormalities (that may be detected by ultrasound examination include narrow thorax, shortening of long bones, hexadactyly and cardiac defects. After birth, cardinal features are short stature, short ribs, polydactyly, and dysplastic fingernails and teeth. Heart defects, especially abnormalities of atrial septation, occur in about 60% of cases. Cognitive and motor development is normal. This rare condition is inherited as an autosomal recessive trait with variable expression. Mutations of the EVC1 and EVC2 genes, located in a head to head configuration on chromosome 4p16, have been identified as causative. EVC belongs to the short rib-polydactyly group (SRP and these SRPs, especially type III (Verma-Naumoff syndrome, are discussed in the prenatal differential diagnosis. Postnatally, the essential differential diagnoses include Jeune dystrophy, McKusick-Kaufman syndrome and Weyers syndrome. The management of EVC is multidisciplinary. Management during the neonatal period is mostly symptomatic, involving treatment of the respiratory distress due to narrow chest and heart failure. Orthopedic follow-up is required to manage the bones deformities. Professional dental care should be considered for management of the oral manifestations. Prognosis is linked to the respiratory difficulties in the first months of life due to thoracic narrowness and possible heart defects. Prognosis of the final body height is difficult to predict.

Whole body bone scintigraphy in tenofovir-related osteomalacia: a case report

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Di Biagio Antonio

2009-07-01

Full Text Available Abstract Introduction Tenofovir disoproxil fumarate (Viread® is the only nucleotide reverse transcriptase inhibitor currently approved for the treatment of HIV. It is frequently prescribed not only for its efficacy but also for its decreased side effect profile compared with other nucleotide analogs. In addition, it is now increasingly recognized as a cause of acquired Fanconi's syndrome in individuals with HIV. Case presentation We describe a 48-year-old woman infected with HIV, with chronic renal insufficiency, who developed Fanconi's syndrome after inclusion of tenofovir disoproxil fumarate in her antiretroviral therapy. A whole body bone scintigraphy was performed, revealing an abnormal distribution of radiotracer uptake, with characteristic changes compatible with osteomalacia. All symptoms disappeared after tenofovir discontinuation and mineral supplementation. No other explanation for the sudden and complete resolution of the bone disease was found. Conclusion The case highlights the role of whole body bone scintigraphy in the diagnosis of tenofovir-related osteomalacia.

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.

Radiological findings in NAO syndrome

Energy Technology Data Exchange (ETDEWEB)

Al-Otaibi, Leftan; Hugosson, Claes O. [Department of Radiology, King Faisal Specialist Hospital and Research Center, Riyadh (Saudi Arabia); Al-Mayouf, Sulalman M.; Majeed, Mahmoud; Al-Eid, Wea' am; Bahabri, Sultan [Department of Paediatrics, King Faisal Specialist Hospital and Research Center, Riyadh (Saudi Arabia)

2002-07-01

Background: Diseases exhibiting osteolysis in children are rare hereditary conditions. Several types have been recognised with different clinical manifestations. One type includes subcutaneous nodules, arthropathy and osteolysis and has been termed NAO syndrome. Previous radiological reports have described the affected bones, usually the carpal and tarsal regions, but a detailed analysis of the radiological findings of both the axial as well as the appendicular skeleton has not been reported. Objectives: To describe the radiological findings in a large group of children with an autosomal recessive disease characterized by nodules, familial arthropathy and osteolysis. Materials and methods: The study comprises 14 patients from 9 families and all patients had the triad of nodulosis, arthropathy and osteolysis (NAO). Results: The most common radiological manifestations were osteopenia, undertubulation of long bones, arthritic changes, sclerotic sutures of the calvaria, osteolysis and muscle contractures. Other common findings were squared vertebrae, broad medial clavicles and brachycephaly. Progress of disease was documented in more than half of the patients. Conclusions: Our study is the first report of the detailed radiological findings of NAO syndrome. In NAO syndrome, both the axial and appendicular skeleton are involved (orig.)

Radiological findings in NAO syndrome

International Nuclear Information System (INIS)

Al-Otaibi, Leftan; Hugosson, Claes O.; Al-Mayouf, Sulalman M.; Majeed, Mahmoud; Al-Eid, Wea'am; Bahabri, Sultan

2002-01-01

Background: Diseases exhibiting osteolysis in children are rare hereditary conditions. Several types have been recognised with different clinical manifestations. One type includes subcutaneous nodules, arthropathy and osteolysis and has been termed NAO syndrome. Previous radiological reports have described the affected bones, usually the carpal and tarsal regions, but a detailed analysis of the radiological findings of both the axial as well as the appendicular skeleton has not been reported. Objectives: To describe the radiological findings in a large group of children with an autosomal recessive disease characterized by nodules, familial arthropathy and osteolysis. Materials and methods: The study comprises 14 patients from 9 families and all patients had the triad of nodulosis, arthropathy and osteolysis (NAO). Results: The most common radiological manifestations were osteopenia, undertubulation of long bones, arthritic changes, sclerotic sutures of the calvaria, osteolysis and muscle contractures. Other common findings were squared vertebrae, broad medial clavicles and brachycephaly. Progress of disease was documented in more than half of the patients. Conclusions: Our study is the first report of the detailed radiological findings of NAO syndrome. In NAO syndrome, both the axial and appendicular skeleton are involved (orig.)

Bone setter's gangrene | Nwadiaro | Nigerian Journal of Medicine

African Journals Online (AJOL)

Abstract. Background: Gangrene usually supervenes following prolonged pressure of tight splintage by traditional bone setters (TBS) in the process of treating fractures. However, various complications such as blisters, pressure sores, Volkmann's ischaemia/ contracture, Crush syndrome and pregangrene occur by the same ...

Enhancing Bone Accretion Using Short-Duration, Low-Level Mechanical Vibrations

National Research Council Canada - National Science Library

Judex, tefan

2004-01-01

The etiology of the stress fractyre syndrome is incompetely understood but it is clear that skeletons with high peak bone quantity and quality will be better pretected against incurring this crippling condition...

GDF9 and BMP15 Expressions and Fine Structure Changes During Folliculogenesis in Polycystic Ovary Syndrome.

Science.gov (United States)

Karagül, Meryem İlkay; Aktaş, Savaş; Coşkun Yılmaz, Banu; Yılmaz, Mustafa; Orekici Temel, Gülhan

2018-01-20

Polycystic ovary syndrome is the most frequently seen endocrine disorder in women of reproductive age with a prevalence of about 10%. To investigate the efficiency of growth differentiation factor 9 and bone morphogenetic protein 15 during folliculogenesis in a dehydroepiandrosterone-induced mouse Polycystic ovary syndrome model. Animal experimentation. Mice were divided into 3 groups: control, vehicle and Polycystic ovary syndrome. Polycystic ovary syndrome model mice were developed by the injection of dehydroepiandrosterone dissolved in 0.1 mL of sesame oil. Ovarian tissues were examined for growth differentiation factor 9 and bone morphogenetic protein 15 using immunofluorescent labelling and electron microscopic examinations. The immunoreactivity of growth differentiation factor 9 and bone morphogenetic protein 15 proteins decreased (pPolycystic ovary syndrome group (27.73±8.43 and 24.85±7.03, respectively) compared with the control group (33.72±11.22 and 31.12±11.05, respectively) and vehicle group (33.95±10.75 and 29.99±10.72, respectively). Apoptotic changes were observed in granulosa cells, lipid vacuoles increased in Theca cells and thickening and irregularities were noted in the basal lamina of granulosa cells. An increased electron density in the zona pellucida in some of the multilaminar primary and secondary follicles in the Polycystic ovary syndrome model was also observed at the ultrastructural level. These results suggest that the decrease in the growth differentiation factor 9 and bone morphogenetic protein 15 expression initiated at the primary follicle stage effect the follicle development and zona pellucida structure and may cause subfertility or infertility in Polycystic ovary syndrome.

Marshall-smith syndrome: case report

International Nuclear Information System (INIS)

Kim, Jin Yong; Lee, Shi Kyung; Cho, In Chul; Han, Chun Hwan

2002-01-01

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

Marshall-Smith syndrome: case report

International Nuclear Information System (INIS)

Kim, Jin Yong; Lee, Shi Kyung; Cho, In Chul; Han, Chun Hwan

2002-01-01

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

Imaging manifestations and its clinical significance in patients with synovitis acne pustulosis hyperostosis osteomyelitis syndrome

International Nuclear Information System (INIS)

Yu Wei; Lin Qiang; Yao Jinpeng; Chang Yinjuan; Zhou Xiaohong

2012-01-01

Objective: To describe the clinical and imaging manifestations of patients with synovitis acne pustulosis hyperostosis osteomyelitis (SAPHO) syndrome, and to analyze the diagnostic importance of different clinical and imaging manifestations for SAPHO syndrome. Methods: Seventeen patients (7 males and 10 females) with SAPHO syndrome were recruited in this study. Age ranged from 36 to 67 years with a mean age of (48 ± 8) years. All patients fulfilled the diagnostic criteria of Benhamou. Serum HLA B27 antigen records were reviewed for all patients. Imaging data of the abnormal bone sites were collected by conventional radiograph in all patients, CT in 13 patients as well as MR in 3 patients. Average time to take for a definite diagnosis of the syndrome was 3.7 years (ranged from O.5 to 13 years). Results: Serum HLA B27 antigen was positive in all patients. Both skin and bone abnormalities were found in all patients. Ten patients had skin palmoplantar pustulosis and two patients had acne. Involving sites of bone and joints include sacroiliac joints, anterior chest and limbs. Sacroiliac joints were asymmetrically involved with imaging features in all patients. Eight patients exhibited anterior chest wall involvement. Five patients had osteomyelitis at limbs. For all images of 17 patients, CT was superior to conventional radiography in detecting abnormal changes of bone erosion and soft tissue swelling. MR imaging was able to depict edema changes that was not detectable by CT and radiography. Conclusion: SAPHO syndrome is a rare disease, but for patients with skin and bone-joint abnormalities, especially with skin palmoplantar pustulosis, acne as well as with imaging features at the sacroiliac joint and anterior chest wall, SAPHO syndrome should be taken into a diagnostic consideration. (authors)

Oral manifestations associated with systemic complications of prune belly syndrome.

Science.gov (United States)

Pessoa, Larissa; Galvão, Virgilio

2013-01-01

Prune belly syndrome (PBS) is a rare congenital malformation of unknown etiology characterized by congenital abnormalities including abdominal wall flaccidity, urinary tract alterations, and bilateral cryptorchidism. The incidence of the syndrome is between 1/35000 and 1/50000 live births and there is little information about the oral findings. The present case describes the oral manifestations of a 15-year-old boy diagnosed with PBS. The findings include enamel hypoplasia associated with generalized hypocalcemic dental lines. In the radiographic exam, pronounced demineralization of the trabecular bone of the jaws, loss of lamina dura in all the teeth, and discontinuity of the mandibular cortical bone were observed. Prune belly syndrome is a rare disease, whose clinical dental aspects are not pathognomonic of the syndrome. The comprehension of the systemic mechanism of PBS and its comorbidities enable an understanding of the systemic etiologic factors associated with oral manifestations. Copyright © 2013 Elsevier Inc. All rights reserved.

A case report of acute myelogenous leukemia with Turner Syndrome.

Science.gov (United States)

Siddiqui, Nadir; Ali Baig, Mirza Faris; Khan, Bilal Ahmed

2017-09-01

Turner Syndrome was diagnosed in a 45 years old female, known case of Acute Myeloid Leukaemia (AML) with maturation, on Bone Marrow biopsy. She presented with blurred vision, vertigo, exertional dyspnoea and insomnia. She did not show the typical features of Turner syndrome, but her cytogenetis confirmed the diagnosis. Bone marrow biopsy showed diffuse infiltration of blast cells with cellularity around 80-85% and haematopoietic suppression. Karyotype analysis showed: 45 X, -X, t (8; 21) (q22; q22) [According to The International System for Human Cytogenetic Nomenclature (ISCN)]. Turner syndrome is caused by partial or complete absence of second X chromosome in a female. It is known to have Cardiovascular and Reproductive complications but it is rare to find haematologic malignancies. There are few similar reported cases of AML associated with Turner syndrome, therefore this is a unique case presented to Jinnah Postgraduate Medical Center, Karachi, Pakistan and further research should be done to identify more similar cases to explore the prognostic significance of this association.

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.

Temporary brittle bone disease: fractures in medical care.

Science.gov (United States)

Paterson, Colin R

2009-12-01

Temporary brittle bone disease is the name given to a syndrome first reported in 1990, in which fractures occur in infants in the first year of life. The fractures include rib fractures and metaphyseal fractures which are mostly asymptomatic. The radiological features of this disorder mimic those often ascribed to typical non-accidental injury. The subject has been controversial, some authors suggesting that the disorder does not exist. This study reports five infants with typical features of temporary brittle bone disease in whom all or most of the fractures took place while in hospital. A non-accidental cause can be eliminated with some confidence, and these cases provide evidence in support of the existence of temporary brittle bone disease.

Morbidity of Cushing's Syndrome and Impact of Treatment.

Science.gov (United States)

Webb, Susan M; Valassi, Elena

2018-06-01

Cortisol excess in Cushing's syndrome is associated with metabolic, cardiovascular, and cognitive alterations, only partially reversible after resolution of hypercortisolism. Elevated cardiovascular risk may persist after eucortisolism has been achieved. Fractures and low bone mineral density are also described in Cushing's syndrome in remission. Hypercortisolism may induce irreversible structural and functional changes in the brain, leading to neuropsychiatric disorders in the active phase of the disease, which persist. Sustained deterioration of the cardiovascular system, bone remodeling, and cognitive function along with neuropsychological impairment are associated with high morbidity and poor quality of life before and after remission. Copyright © 2018 Elsevier Inc. All rights reserved.

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.

Bone scanning in Shin Splint evaluation

International Nuclear Information System (INIS)

Dumont, M.; Lamoureux, F.; Lamoureux, J.; Danais, S.; Lacoste, P.; Duranceau, J.

1983-01-01

Jogging is increasingly popular; in U.S.A., in 1979 more than 25 millions people were considered joggers. Lesions of the locomotive system of the lower limbs are very frequent in athletes and the Shin Splint syndrome, for one, is very frequent. However this precise clinical entity, usually X-Ray negative, is ill-known. A bone scan study in a series of 30 athletes suffering from Shin Splints is presented. The bone scans being positive and typical were highly useful in confirming the clinical diagnosis. Moreover, follow-up studies were done in a number of these patients and results correlated well with the clinical evolution [fr

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.

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.

Musculoskeletal manifestations of the antiphospholipid syndrome.

Science.gov (United States)

Noureldine, M H A; Khamashta, M A; Merashli, M; Sabbouh, T; Hughes, G R V; Uthman, I

2016-04-01

The scope of clinical and laboratory manifestations of the antiphospholipid syndrome (APS) has increased dramatically since its discovery in 1983, where any organ system can be involved. Musculoskeletal complications are consistently reported in APS patients, not only causing morbidity and mortality, but also affecting their quality of life. We reviewed all English papers on APS involvement in the musculoskeletal system using Google Scholar and Pubmed; all reports are summarized in a table in this review. The spectrum of manifestations includes arthralgia/arthritis, avascular necrosis of bone, bone marrow necrosis, complex regional pain syndrome type-1, muscle infarction, non-traumatic fractures, and osteoporosis. Some of these manifestations were reported in good quality studies, some of which showed an association between aPL-positivity and the occurrence of these manifestations, while others were merely described in case reports. © The Author(s) 2016.

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

Directory of Open Access Journals (Sweden)

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.

Measurement of bone mineral content by dual photon absorptiometry in patients with metabolic bone diseases

International Nuclear Information System (INIS)

Ohtani, Masami; Hino, Megumu; Ikekubo, Katsuji

1991-01-01

Dual photon absorptiometry was used to measure bone mineral content in 225 patients with metabolic bone diseases (84 males and 102 females) and 186 healthy subjects (25 males and 200 females). Mineral content of the lumbar vertebrae tended to rapidly decrease after the age of 40 in healthy female subjects. For males, gradual decrease in mineral content was associated with aging. Bone mineral content showed a correlation with the severity of osteoporosis as shown on X-ray films. Mineral content tended to be decreased in the lumbar vertebrae in patients with vertebral compression fracture, and in the femur in patients with vertebral or femoral fracture. For hyperthyroidism, mineral content of the lumbar vertebrae was decreased in some females, but was within normal limit in males. Hyperparathyroidism and hypoparathyroidism tended to be associated with decrease and increase in mineral content, respectively. Two each patients with osteomalacia or Cushing syndrome had a decreased mineral content. In these patients, it was increased after the treatment. (N.K.)

Measurement of bone mineral content by dual photon absorptiometry in patients with metabolic bone diseases

Energy Technology Data Exchange (ETDEWEB)

Ohtani, Masami; Hino, Megumu; Ikekubo, Katsuji (Kobe City General Hospital (Japan)) (and others)

1991-12-01

Dual photon absorptiometry was used to measure bone mineral content in 225 patients with metabolic bone diseases (84 males and 102 females) and 186 healthy subjects (25 males and 200 females). Mineral content of the lumbar vertebrae tended to rapidly decrease after the age of 40 in healthy female subjects. For males, gradual decrease in mineral content was associated with aging. Bone mineral content showed a correlation with the severity of osteoporosis as shown on X-ray films. Mineral content tended to be decreased in the lumbar vertebrae in patients with vertebral compression fracture, and in the femur in patients with vertebral or femoral fracture. For hyperthyroidism, mineral content of the lumbar vertebrae was decreased in some females, but was within normal limit in males. Hyperparathyroidism and hypoparathyroidism tended to be associated with decrease and increase in mineral content, respectively. Two each patients with osteomalacia or Cushing syndrome had a decreased mineral content. In these patients, it was increased after the treatment. (N.K.).

Roentgenologic features of the Meckel syndrome

International Nuclear Information System (INIS)

Seppaenen, U.; Herva, R.

1983-01-01

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. (orig.)

Genetics Home Reference: Ellis-van Creveld syndrome

Science.gov (United States)

... bone growth that results in very short stature (dwarfism). People with this condition have particularly short forearms ... Ellis-van Creveld Syndrome Encyclopedia: Polydactyly Health Topic: Dwarfism Genetic and Rare Diseases Information Center (1 link) ...

Noonan syndrome-causing SHP2 mutants impair ERK-dependent chondrocyte differentiation during endochondral bone growth.

Science.gov (United States)

Tajan, Mylène; Pernin-Grandjean, Julie; Beton, Nicolas; Gennero, Isabelle; Capilla, Florence; Neel, Benjamin G; Araki, Toshiyuki; Valet, Philippe; Tauber, Maithé; Salles, Jean-Pierre; Yart, Armelle; Edouard, Thomas

2018-04-12

Growth retardation is a constant feature of Noonan syndrome (NS) but its physiopathology remains poorly understood. We previously reported that hyperactive NS-causing SHP2 mutants impair the systemic production of insulin-like growth factor 1 (IGF1) through hyperactivation of the RAS/extracellular signal-regulated kinases (ERK) signalling pathway. Besides endocrine defects, a direct effect of these mutants on growth plate has not been explored, although recent studies have revealed an important physiological role for SHP2 in endochondral bone growth. We demonstrated that growth plate length was reduced in NS mice, mostly due to a shortening of the hypertrophic zone and to a lesser extent of the proliferating zone. These histological features were correlated with decreased expression of early chondrocyte differentiation markers, and with reduced alkaline phosphatase staining and activity, in NS murine primary chondrocytes. Although IGF1 treatment improved growth of NS mice, it did not fully reverse growth plate abnormalities, notably the decreased hypertrophic zone. In contrast, we documented a role of RAS/ERK hyperactivation at the growth plate level since 1) NS-causing SHP2 mutants enhance RAS/ERK activation in chondrocytes in vivo (NS mice) and in vitro (ATDC5 cells) and 2) inhibition of RAS/ERK hyperactivation by U0126 treatment alleviated growth plate abnormalities and enhanced chondrocyte differentiation. Similar effects were obtained by chronic treatment of NS mice with statins.In conclusion, we demonstrated that hyperactive NS-causing SHP2 mutants impair chondrocyte differentiation during endochondral bone growth through a local hyperactivation of the RAS/ERK signalling pathway, and that statin treatment may be a possible therapeutic approach in NS.

GDF9 and BMP15 Expressions and Fine Structure Changes During Folliculogenesis in Polycystic Ovary Syndrome

Directory of Open Access Journals (Sweden)

Meryem İlkay Karagül1

2018-02-01

Full Text Available Background: Polycystic ovary syndrome is the most frequently seen endocrine disorder in women of reproductive age with a prevalence of about 10%. Aims: To investigate the efficiency of growth differentiation factor 9 and bone morphogenetic protein 15 during folliculogenesis in a dehydroepiandrosterone-induced mouse Polycystic ovary syndrome model. Study Design: Animal experimentation. Methods: Mice were divided into 3 groups: control, vehicle and Polycystic ovary syndrome. Polycystic ovary syndrome model mice were developed by the injection of dehydroepiandrosterone dissolved in 0.1 mL of sesame oil. Ovarian tissues were examined for growth differentiation factor 9 and bone morphogenetic protein 15 using immunofluorescent labelling and electron microscopic examinations. Results: The immunoreactivity of growth differentiation factor 9 and bone morphogenetic protein 15 proteins decreased (p<0.05 in the Polycystic ovary syndrome group (27.73±8.43 and 24.85±7.03, respectively compared with the control group (33.72±11.22 and 31.12±11.05, respectively and vehicle group (33.95±10.75 and 29.99±10.72, respectively. Apoptotic changes were observed in granulosa cells, lipid vacuoles increased in Theca cells and thickening and irregularities were noted in the basal lamina of granulosa cells. An increased electron density in the zona pellucida in some of the multilaminar primary and secondary follicles in the Polycystic ovary syndrome model was also observed at the ultrastructural level. Conclusion: These results suggest that the decrease in the growth differentiation factor 9 and bone morphogenetic protein 15 expression initiated at the primary follicle stage effect the follicle development and zona pellucida structure and may cause subfertility or infertility in Polycystic ovary syndrome

Differential radiodiagnosis of cranial lesions in hyperparathyroid and deforming asteodystrophy, fibrous osteoplasia, multiple myeloma and tumor metastases to the cranial bones

International Nuclear Information System (INIS)

Spuzyak, M.I.

1986-01-01

The results of an analysis of craniographic findings were provided for 58 patients with primary hyperparathyrosis, 12 with fibrous osteodysplasia, 6 with deforming osteodystrophy, 14 with multiple myeloma and 16 with tumor metastases to the cranial bones. A study was made of some features of roentgenological semiotics (changes in the structure thickness and shapes of the cranial bones) of cranial bone lesions in the above diseases. Differential radiodiagnosis of cranial lesions in hypeparathyroid and deforming osteodystrophy, fibrous osteodysplasia, multiple myeloma and metastatic lesions of the cranial bones should be based not on single signs but on the symptom-complex (x-ray syndrome). For each of the analysed diseases x-ray syndromes were described

Bone-Marrow Storage and Transplantation

International Nuclear Information System (INIS)

Costăchel, O.; Corneci, I.; Andrian, T.; Kitzulescu, I.; Popescu, N.; Pascu, D.; Buzi, E.; Voiculetz, N.

1969-01-01

The authors present some results from their experiments on bone-marrow storage and transplantation. The main problems with preservation of stored bone marrow are the duration, temperature, adjuvant substances and the significance of viability tests during the conservation processes. The results showed that: • Storage of bone marrow at +4eC produces a progressive decrease in its restoring capacity versus storage time. • While bone marrow stored for 24 h is able to restore 100% of dogs lethally irradiated with 600 rad, after 10 days of storage only 20% of the animals can be restored. • No correlation exists between the actual survival of dogs and that calculated by dye exclusion tests, which indicate a rather high (70%) viability, even after 10 days bone-marrow storage at +4°C. • DNA degradation (depolymerization) measurements of the bone marrow may be used as a supplementary test for checking the viability or restoration potency of bone-marrow cells after storage. • In the freezing process, the optimum contact time between glycerol and the bone-marrow cells is 15 min. Results of experiments regarding certain bone-marrow transplantation problems showed that: • The best time to administer bone marrow is between 24 and 48 h after irradiation. • No survivors were obtained with dogs lethally irradiated with 600 rad by administering autogenic or allogenic DNA extracted from bone marrow, spleen or liver. • Histocompatibility related to sex may play an important role in the bone-marrow graft. The lowest survival of C57BL mice was obtained when the donors were males and the recipients females. • In radioprotection with foetal haemocytopoietic tissues, the donor's age represents one of the main factors. The best results were obtained in experiments on rats, with 19- to 20-day foetal liver (period of complete and maximum haemocytopoietic activity). The tissues mentioned below may be connected with the appearance of certain typical signs of secondary syndrome

Bone-Marrow Storage and Transplantation

Energy Technology Data Exchange (ETDEWEB)

Costachel, O.; Corneci, I.; Andrian, T.; Kitzulescu, I.; Popescu, N.; Pascu, D.; Buzi, E.; Voiculetz, N. [Oncological Institute, Bucharest (Romania)

1969-07-15

certain typical signs of secondary syndrome. Bullet Transfusion of blood or allogenic splenic cells did not influence noxiously the take of autogenic bone- marrow grafts in lethally irradiated dogs. Bullet After repeated irradiations and recovery of dogs (1-3 times) following treatment with autogenic bone- marrow, late chromosomal lesions were observed. (author)

Baseline patterns of bone scintigraphy in patients with established post-poliomyelitis paralysis

International Nuclear Information System (INIS)

Marafi, Fahad A.; Esmail, Abdulredha A.; Elgazzar, Abdelhamid H.; Al-Said Ali, Ali

2010-01-01

Post-poliomyelitis syndrome causes variable musculoskeletal manifestations including pain, muscle weakness and fatigue. These manifestations are commonly secondary to overuse and misuse of muscles and joints and could follow a fall. Bone scan can be useful in determining the underlying cause and follow-up. The objective of this study was to describe the late scintigraphic patterns on bone scan following poliomyelitis. Bone scans of 8 adult patients (7 female and 1 male), aged 35 to 53 years, who were known to have paralytic poliomyelitis, were retrospectively studied. Six patients had unilateral while 1 had bilateral disease. All patients had three-phase bone scan and 5 had SPECT study as well. Studies were reviewed by two qualified nuclear medicine physicians and findings were recorded and analyzed. Several patterns were consistently identified: decreased blood pool activity in the affected lower limb of all patients; deformed ipsilateral hemi-pelvis with reduced uptake on the affected side in all patients with unilateral disease; stress changes with increased uptake in the bones of the contra-lateral lower extremity; and degenerative changes in multiple joints (shoulder, knee, hip, ankle and spine). Significant scoliosis was only noted in the patient with bilateral disease. Scintigraphic patterns on bone scan associated with the post-poliomyelitis syndrome and persistent weakness following a distant episode of poliomyelitis have been described. Awareness of these characteristic scintigraphic findings may facilitate an accurate diagnosis and lead to more appropriate patient management. (orig.)

Baseline patterns of bone scintigraphy in patients with established post-poliomyelitis paralysis

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Marafi, Fahad A.; Esmail, Abdulredha A.; Elgazzar, Abdelhamid H. [Mubarak Alkabeer Hospital and Kuwait University, Departments of Nuclear Medicine, P.O. Box 24923, Safat (Kuwait); Al-Said Ali, Ali [Ministry of Health, Department of Surgery, Mubarak Alkabeer Hospital, Safat (Kuwait)

2010-09-15

Post-poliomyelitis syndrome causes variable musculoskeletal manifestations including pain, muscle weakness and fatigue. These manifestations are commonly secondary to overuse and misuse of muscles and joints and could follow a fall. Bone scan can be useful in determining the underlying cause and follow-up. The objective of this study was to describe the late scintigraphic patterns on bone scan following poliomyelitis. Bone scans of 8 adult patients (7 female and 1 male), aged 35 to 53 years, who were known to have paralytic poliomyelitis, were retrospectively studied. Six patients had unilateral while 1 had bilateral disease. All patients had three-phase bone scan and 5 had SPECT study as well. Studies were reviewed by two qualified nuclear medicine physicians and findings were recorded and analyzed. Several patterns were consistently identified: decreased blood pool activity in the affected lower limb of all patients; deformed ipsilateral hemi-pelvis with reduced uptake on the affected side in all patients with unilateral disease; stress changes with increased uptake in the bones of the contra-lateral lower extremity; and degenerative changes in multiple joints (shoulder, knee, hip, ankle and spine). Significant scoliosis was only noted in the patient with bilateral disease. Scintigraphic patterns on bone scan associated with the post-poliomyelitis syndrome and persistent weakness following a distant episode of poliomyelitis have been described. Awareness of these characteristic scintigraphic findings may facilitate an accurate diagnosis and lead to more appropriate patient management. (orig.)

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.

Bone Histology of Two Cases with Osteomalacia Related to Low-dose Adefovir.

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Hiramatsu, Rikako; Ubara, Yoshifumi; Sawa, Naoki; Hasegawa, Eiko; Kawada, Masahiro; Imafuku, Aya; Sumida, Keiichi; Hoshino, Junichi; Takaichi, Kenmei

We performed a bone histomorphometric analysis in two patients demonstrating Fanconi syndrome with hypophosphatemia, adefovir-related bone disease and chronic hepatitis B infection. Both patients had osteomalacia, but showed two different histological patterns. The osteoid volume of the patient without risedronate increased with [(osteoid volume/ bone volume)×100=18.6%]. However, the osteoid volume of the patient receiving risedronate without vitamin D analogue showed a greater increase of 53.8%. In both patients bone pain and hypophosphatemia subsided soon after the discontinuation of adefovir and the administration of phosphate derivative. These findings show that bisphosphonate may worsen this disease when this drug is administered without a vitamin D analogue.

Oral Rehabilitation with Implant-Retained Overdenture in a Patient with Down Syndrome.

Science.gov (United States)

Altintas, Nuray Yilmaz; Kilic, Serdar; Altintas, Subutay Han

2017-01-24

Down syndrome, known as trisomy 21, is the most common chromosomal disorder. The disorder affects mental and systemic development as well as oral structure, including dental anomalies, high susceptibility of periodontal disease, and poor quality of alveolar bone. This report presents a case of dental rehabilitation by means of dental implants of a patient with Down syndrome. Two titanium dental implants were placed in the maxilla, and three titanium dental implants were installed in the mandible. One implant was lost during the osseointegration period. The prosthetic rehabilitation was performed with implant-retained maxillary and mandibular overdentures with the Locator attachment system. After a 2-year follow-up period, the patient was doing well, and all implants were clinically stable with no signs of bone loss or inflammation. The present study emphasizes that implant-retained overdentures with Locator attachment system could be a therapeutic option even for patients with Down syndrome. This therapy prevents crestal bone loss around the implants, improves functional and esthetic outcomes, and provides optimum oral hygiene for patients with mild mental impairment. Careful patient selection and education of patients and caregivers are essential considerations for a successful and safe treatment with dental implants in Down syndrome patients. © 2017 by the American College of Prosthodontists.

Poland’s syndrome

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Olga E. Agranovich

2017-03-01

Full Text Available Poland’s syndrome is a rare congenital condition classically characterized by partial or complete absence of chest muscles on one side of the body and usually webbing of the fingers of the hand on the same side. There may also be rib (aplasia or hypoplasia and chest bone abnormalities, which may be noticeable due to less fat under the skin. Breast and nipple abnormalities may also occur, and underarm hair is sometimes sparse or abnormally placed. In most cases, the abnormalities in the chest area do not cause health problems or affect movement. Poland’s syndrome most often affects the right side of the body and occurs more frequently in males than in females. The etiology is unknown; however, interruption of the embryonic blood supply to the arteries that lie under the collarbone (subclavian arteries is the prevailing theory. There are many methods of operative correction because of the polymorphic clinical features of this syndrome. We gathered data on the etiology, pathogenesis, and clinical presentation of Poland’s syndrome and reviewed the existing surgical treatment options.

A Case Report of Maffucci Syndrome

Directory of Open Access Journals (Sweden)

Gh. Eshghi

2013-01-01

Full Text Available Introduction: Maffucci syndrome is a rare clinical entity (approximately 200 cases have been reported in the medical literature with a combination occurrence of multiple enchodroma and vascular tumors. Case Report: Our patient was an 18 year old girl born in a non-consanguineous marriage with finger and toe bones disorders (enchondroma causing deformity of fingers and toes with multiple vascular tumors (cavernous hemangioma in the distal upper and lower limbs. Entire laboratory investigations including thyroid function tests were normal. Cardiovascular ex-amination including EKG and echocardiography were also normal. The abnormal findings on brain CT SCAN with contrast were not observed. Angiographic and histologic stud-ies confirmed the cavernous hemangioma and radiography of fingers and toes approved bone lesions (enchondroma. Conclusion: A diagnosis of Maffucci syndrome was made by the above mentioned measures.(Sci J Hamadan Univ Med Sci 2013; 19 (4:82-85

Bone marrow transplantation for childhood malignancies

International Nuclear Information System (INIS)

Toyoda, Yasunori

1992-01-01

As of June 30, 1991, 1013 pediatric patients had registrated to The Bone Marrow Transplantation Committee of the Japanese Society of Pediatric Hematology. Bone marrow transplantation (BMT) from HLA-matched siblings is now reasonably safe and an established method of treatment in acute leukemia. Total body irradiation, which is major part of preparative regimen for BMT, affect endocrine function, subsequent growth, gonadal function, development of secondary malignancies. We propose the indication of TBI for children and young adults as follows; those who are at high risk for leukemic relapse after BMT such as Phl-positive-All, leukemia-lymphoma syndrome, AML with monocytic component, BMT in elapse, BMT from other than HLA-matched siblings. (author)

Fibrous dysplasia of bone

International Nuclear Information System (INIS)

Kim, Kyung Soo; Lee, Sang Wook; Cho, Young Jun; Kim, Young Sook

1983-01-01

Fibrous dysplasia of bone is a skeletal development anomaly of unknown etiology characterized by single or multiple areas of fibrous tissue replacement of medullary cavity of one or more bones. The disease may be localized to single bone (monostotic form) or may affect multiple bones (polyostotic form). Eighteen cases of fibrous dysplasia diagnosed by roentgenlogic or histologic assessment at Chosun University Hospital, Chosun University Hospital and Kwangju Christian Hospital during recent ten tears were analyzed clinically and radiologically. The results were as follows: 1. 16 case of them had monostotic involvement, and 2 cases showed polyostotic disease, but none of our series presented Albright's syndrome. 2. The male to female ratio in this series was 10 : 8, but then 2 polyostotic forms of them were females. In age distribution, peak incidence at the time of diagnosis was in the age group of second decade (10 cases). 3. Maxilla (6 cases) and femur (4 case) were frequently involved sites in patients with monostotic lesion, whereas polyostotic lesions diffusely affected skull, pelvis, ribs and limb bones. 4. The clinical symptoms according to the extent and site of disease were very variable, which were localized painless or painful swelling, nasal obstruction, deformity of face or extremity and incidentally during routine roentgen study. 5. The chemical abnormality of blood serum was moderate degree of elevated serum alkaline phosphatase in only one patients with monostotic lesion. 6. The main radiologic findings of fibrous dysplasia were relatively well circumscribed single or multiloculated cystilike appearance, bone expansion, cortical thinning and/or erosion, bony deformity and pathologic fracture, but especially in maxilla, dense homogenous area with expanding lesion was observed in our series

Bone Marrow Transplantation for Leukocyte Adhesion Deficiency-I: Case Report

International Nuclear Information System (INIS)

Al-wahadneh, A.M.; Haddadin, I.; Hamouri, M.; Omari, K.; Ajellat, F.

2006-01-01

Leukocyte Adhesion Deficiency type-I (LAD-I) is a rare autosomal recessive immunodeficiency syndrome leading recurrent bacterial and fungal infections. Bone marrow transplantation offers the only cure. In this report, we describe the course and outcome of bone marrow transplant in a 4-month-old female infant with LAD-I at King Hussein Medical Center, Jordan. A successful matched HLA-I related allogeneic bone marrow transplantation was performed. Engraftment was demonstrated on the 12th day. The patient developed GradeIII grafts versus host disease (GVHD), veno-occlusive disease of the liver and late onset hemorrhagic cystitis. She recovered with appropriate immune reconstitution. (author)

Constitutional trisomy 8 and Behçet syndrome.

Science.gov (United States)

Becker, Kristin; Fitzgerald, Oliver; Green, Andrew J; Keogan, Mary; Newbury-Ecob, Ruth; Greenhalgh, Lynn; Withers, Stephen; Hollox, Edward J; Aldred, Patricia M R; Armour, John A L

2009-05-01

The characteristic clinical features of constitutional trisomy 8 include varying degrees of developmental delay, joint contractures and deep palmar and plantar creases. There is an established literature, which describes features of Behçet syndrome occurring in phenotypically normal individuals with myelodysplastic syndromes and trisomy 8 in their bone marrow. In this article, we describe four patients with constitutional trisomy 8, all with varying clinical phenotypes, who developed features of Behçet, in particular but not exclusively mucocutaneous ulceration. In addition, we examined gene copy numbers of the variable-number neutrophil defensin genes DEFA1A3 in one of the cases (case 1) and her parents, together with 14 cases of Behçet syndrome in comparison with 121 normal controls. The gene copy number was highest in case 1 (copy number 14) and was also increased in her parents (both copy number 9). However the mean copy number for DEFA1A3 among the 14 Behçet syndrome patients was actually lower (5.1) than among the controls (mean of 6.8 copies). Thus, we conclude that patients with constitutional trisomy 8 and those with trisomy 8 confined to the bone marrow are both at increased risk of developing features of Behçet syndrome. The mechanism may relate to increased chromosome 8 gene dosage with further analysis of candidate genes on chromosome 8 required.

Bone scintigraphy and secondary osteomalacia due to nephrotoxicity in a chronic hepatitis B patient treated with tenofovir.

Science.gov (United States)

Gómez Martinez, M V; Gallardo, F G; Pirogova, T; García-Samaniego, J

2014-01-01

Tenofovir is a nucleotide analogue used for the treatment of chronic hepatitis B and HIV infection. The safety of tenofovir is high but it has been described that tenofovir produces tubular toxicity and Fanconi's syndrome in some HIV-infected patients. To our knowledge this is the first documented case of bone involvement in Fanconi's syndrome in a patient treated with tenofovir for chronic hepatitis B without HIV coinfection. Bone scintigraphy has proven to be very useful for the diagnosis of secondary osteomalacia. Normalization of the bone scan after the withdrawal of the drug and the decline in alkaline phosphatase and phosphate serum levels reinforce the cause-effect relationship. Copyright © 2013 Elsevier España, S.L. and SEMNIM. All rights reserved.

An unusual presentation of pediatric osteoblastoma in a patient with Klippel-Trenaunay-Weber syndrome: case report.

Science.gov (United States)

Wallace, Scott A; Ignacio, Romeo C; Klugh, Arnett; Gates, Gregory; Henry, Marion C W

2015-06-01

Osteoblastoma is an uncommon primary bone tumor that usually presents as a painful lesion in a long bone or in the spine. Osteoblastoma has been reported only twice in the literature in conjunction with systemic fibromatosis. The authors report the case of an 8-year-old girl with suspected Klippel-Trenaunay-Weber syndrome, a rare syndrome of systemic fibromatosis, who presented with a painless thoracic rib lesion that was found to be an osteoblastoma.

Are certain fractures at increased risk for compartment syndrome after civilian ballistic injury?

Science.gov (United States)

Meskey, Thomas; Hardcastle, John; O'Toole, Robert V

2011-11-01

Compartment syndrome after ballistic fracture is uncommon but potentially devastating. Few data are available to help guide clinicians regarding risk factors for developing compartment syndrome after ballistic fractures. Our primary hypothesis was that ballistic fractures of certain bones would be at higher risk for development of compartment syndrome. A retrospective review at a Level I trauma center from 2001 through 2007 yielded 650 patients with 938 fractures resulting from gunshots. We reviewed all operative notes, clinic notes, discharge summaries, and data from our prospective trauma database. Cases in which the attending orthopedic surgeon diagnosed compartment syndrome and performed fasciotomy were considered cases with compartment syndrome. We excluded all prophylactic fasciotomies. Univariate analyses were conducted to identify risk factors associated with development of compartment syndrome. Twenty-six (2.8%) of the 938 fractures were associated with compartment syndrome. Only fibular (11.6%) and tibial (11.4%) fractures had incidence significantly higher than baseline for all ballistic fractures (p Ballistic fractures of the fibula and tibia are at increased risk for development of compartment syndrome over other ballistic fractures. We recommend increased vigilance when treating these injuries, particularly if the fracture is in the proximal aspect of the bone or is associated with vascular injury.

Inner ear anomalies seen on CT images in people with Down syndrome

Energy Technology Data Exchange (ETDEWEB)

Intrapiromkul, Jarunee; Aygun, Nafi; Yousem, David M. [The Johns Hopkins Medical Institutions, The Russell H. Morgan Department of Radiology and Radiological Sciences, Baltimore, MD (United States); Tunkel, David E. [The Johns Hopkins Medical Institutions, Department of Otolaryngology-Head and Neck Surgery, Baltimore, MD (United States); Carone, Marco [University of California, Division of Biostatistics, School of Public Health, Berkeley, CA (United States)

2012-12-15

Although dysplasia of inner ear structures in Down syndrome has been reported in several histopathological studies, the imaging findings have not been widely studied. To evaluate the prevalence and clinical significance of inner ear anomalies detected on CT images in patients with Down syndrome. The temporal bone CT images of patients with Down syndrome were assessed for inner ear anomalies; clinical notes and audiograms were reviewed for hearing loss. Logistic regression models were employed to identify which CT findings were associated with sensorineural hearing loss (SNHL). Inner ear anomalies were observed in 74.5% (38/51) of patients. Malformed bone islands of lateral semicircular canal (LSCC), narrow internal auditory canals (IACs), cochlear nerve canal stenoses, semicircular canal dehiscence (SCCD), and enlarged vestibular aqueducts were detected in 52.5% (53/101), 24.5% (25/102), 21.4% (21/98), 8.8% (9/102) and 2% (2/101) of patients' ears, respectively. IAC stenosis had the highest odds ratio (OR = 5.37, 95% CI: 1.0-28.9, P = 0.05) for SNHL. Inner ear anomalies occurred in 74.5% of our population, with malformed (<3 mm) bone island of LSCC being the most common (52.5%) anomaly. Narrow IAC was seen in 24.5% of patients with Down syndrome and in 57.1% of ears with SNHL. High-resolution CT is a valuable for assessing the cause of hearing loss in people with Down syndrome. (orig.)

Inner ear anomalies seen on CT images in people with Down syndrome

International Nuclear Information System (INIS)

Intrapiromkul, Jarunee; Aygun, Nafi; Yousem, David M.; Tunkel, David E.; Carone, Marco

2012-01-01

Although dysplasia of inner ear structures in Down syndrome has been reported in several histopathological studies, the imaging findings have not been widely studied. To evaluate the prevalence and clinical significance of inner ear anomalies detected on CT images in patients with Down syndrome. The temporal bone CT images of patients with Down syndrome were assessed for inner ear anomalies; clinical notes and audiograms were reviewed for hearing loss. Logistic regression models were employed to identify which CT findings were associated with sensorineural hearing loss (SNHL). Inner ear anomalies were observed in 74.5% (38/51) of patients. Malformed bone islands of lateral semicircular canal (LSCC), narrow internal auditory canals (IACs), cochlear nerve canal stenoses, semicircular canal dehiscence (SCCD), and enlarged vestibular aqueducts were detected in 52.5% (53/101), 24.5% (25/102), 21.4% (21/98), 8.8% (9/102) and 2% (2/101) of patients' ears, respectively. IAC stenosis had the highest odds ratio (OR = 5.37, 95% CI: 1.0-28.9, P = 0.05) for SNHL. Inner ear anomalies occurred in 74.5% of our population, with malformed (<3 mm) bone island of LSCC being the most common (52.5%) anomaly. Narrow IAC was seen in 24.5% of patients with Down syndrome and in 57.1% of ears with SNHL. High-resolution CT is a valuable for assessing the cause of hearing loss in people with Down syndrome. (orig.)

Radionuclide Treatment with 153Sm-EDTMP is Effective for the Palliation of Bone Pain in the Context of Extensive Bone Marrow Metastases: A Case Report

International Nuclear Information System (INIS)

Kairemo, Kalevi; Rasulova, Nigora; Suslaviciute, Justina; Alanko, Tuomo

2014-01-01

Radionuclide therapy is widely used as an effective modality in the management of bone pain. The main indication for this treatment is symptomatic bone metastases, confirmed by bone scintigraphy. We present a case of small cell lung cancer (SCLC) stage T 4 N 2 M 1b , with a good metabolic response to systemic therapy and radiotherapy of the primary tumor and locoregional disease, which became metabolically less active and remarkably smaller in size (reduction to 1/6 of the original volume). In spite of the good overall response, the patient developed a syndrome with severe bone pain and had progression in the bone marrow metastases, confirmed by 18 F-FDG PET/CT. The patient received 153 Sm-EDTMP treatment with a good clinical response. However, in the whole body bone scan with the therapeutic dose, there was no visual evidence of bone metastasis. Retrospectively, by drawing the region of interest, it was possible to identify one metastatic site. The possible mechanisms of the efficacy of this treatment modality, in this specific setting, are also discussed

Radiologic bone changes of polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy

International Nuclear Information System (INIS)

Maekelae, P.; Virtama, P.

1982-01-01

More than 50 cases of polycystic lipomembranous osteodysplasia (PLO) with sclerosing leukoencephalopathy (SL) have been described in Finland, Sweden, Japan, and in the USA. Radiographic bone changes, including symmetrical cystic lesions in the small bones of the extremities and trabecular loss in the distal ends of the long tubular bones, represent primary abnormalities in the diagnosis of the disease. Neuropsychiatric symptoms, frontal syndrome, and pyramidal signs make the patients dangerous to themselves. They are often involved in traffic accidents are prone to multiple spontaneous or almost spontaneous fractures. PLO usually starts with slight bone pain around the age of 20 years. Progress is very slow during the next ten years, but faster after the age of 40 years. The patients usually die before the age of 50 years having total dementia and epileptiform convulsions. (orig.)

USE OF ZOLEDRONIC ACID AND A RАNK LIGAND INHIBITOR IN THE PALLIATIVE TREATMENT OF CANCERS OF THE PROSTATE WITH BONE METASTASES

Directory of Open Access Journals (Sweden)

S. V. Mushigin

2013-01-01

Full Text Available In the metastatic patterns of the cancer, the tumor foci are located more frequently in the tubular bones and vertebral column, just less frequently in the bones of the pelvis, and even more rarely in those of the shoulder and skull. Bone pain is usually related to the involvement of the periosteum that has an extensive network of nociceptors. Auxiliary exposures that directly affect the intensity of pain syndrome and the strength of bone structures are used in addition to basic therapy options for cancer of the prostate. Among these agents there are bisphosphonates. Once ingested, bisphosphonates are transported by blood to the areas of active bone tissue rearrangement where they are tightly bound to the mineral matrix. Their administration causes a considerable reduction in pain syndrome, a decrease in the frequency of complications of bone metastases, and an increase in time before a first bone complication. Antiresorptive therapy including particularly zoledronic acid (resorba or denosumab is a necessary treatment option in the above category of patients with bone metastases.

USE OF ZOLEDRONIC ACID AND A RАNK LIGAND INHIBITOR IN THE PALLIATIVE TREATMENT OF CANCERS OF THE PROSTATE WITH BONE METASTASES

Directory of Open Access Journals (Sweden)

S. V. Mushigin

2014-07-01

Full Text Available In the metastatic patterns of the cancer, the tumor foci are located more frequently in the tubular bones and vertebral column, just less frequently in the bones of the pelvis, and even more rarely in those of the shoulder and skull. Bone pain is usually related to the involvement of the periosteum that has an extensive network of nociceptors. Auxiliary exposures that directly affect the intensity of pain syndrome and the strength of bone structures are used in addition to basic therapy options for cancer of the prostate. Among these agents there are bisphosphonates. Once ingested, bisphosphonates are transported by blood to the areas of active bone tissue rearrangement where they are tightly bound to the mineral matrix. Their administration causes a considerable reduction in pain syndrome, a decrease in the frequency of complications of bone metastases, and an increase in time before a first bone complication. Antiresorptive therapy including particularly zoledronic acid (resorba or denosumab is a necessary treatment option in the above category of patients with bone metastases.

An unusual case of calcineurine inhibitor pain syndrome.

Science.gov (United States)

Nickavar, Azar; Mehrazma, Mitra; Hallaji, Farideh

2014-09-01

Cyclosporine induced pain syndrome (CIPS) is a newly diagnosed complication of calcineurine inhibitors, mainly observed in solid organ and hematopoetic transplantations. The present case is a male child with steroid resistant nephrotic syndrome on low therapeutic level cyclosporine treatment. He presented with intractable and debilitating leg pain, with no reported history of previous injury or trauma. The pain was reluctant to antimicrobial and sedative treatment. MRI revealed bone marrow and soft tissue edema in the mid shaft of patient's right leg. Inspite of unusual manifestations, CIPS was suggested and cyclosporine discontinued. However, the pain did not improve and was resistant to calcium blocker. Subsequently, core decompression was performed as an unusual treatment of CIPS, revealing normal bone morphology. The pain improved rapidly and the patient was discharged a few days later.

The features of HPOA on dynamic bone scintigraphy: A reflection of underlying pathophysiology

International Nuclear Information System (INIS)

Bernard, E.J.; Howman-Giles, R.; Macauley, D.I.; Uren, R.F.

1998-01-01

Full text: Hypertrophic pulmonary osteoarthropathy (HPOA) is the clinical syndrome of clubbing, arthritis and periostitis which may accompany a spectrum of underlying disease processes. Increased blood flow through involved extremities is an invariable accompaniment of the syndrome and it is hypothesised that the chronic increase in peripheral blood flow results in the known pathological changes of periosteal inflammation and proliferation, oedema, synovial congestion and exudation and hyperplasia of the finger pulp. The dynamic and blood pool phases of bone scintigraphy provide a unique tool for examining the vascular changes in bone and soft tissues and we describe the previously unreported features of the dynamic bone scan in HPOA. We performed three-phase bone scans on two adolescent patients with cystic fibrosis with knee discomfort. Both studies showed marked hyperaemia to the knees. On the blood pool phase, hyperaemia was seen to the tissues closely related to the periosteum of the long bones in upper and lower limbs, periarticular tissues and finger pulps. The delayed images showed the classic features of HPOA with linear uptake of tracer in the shafts and metaphyseal regions of the long bones and minor periarticular uptake of tracer. A WBC scan performed in one patient showed WBC accumulation in the periosteum of the metaphyseal regions, extending in the shafts, of the distal femurs and proximal tibias. Negligible WBC accumulation was seen in the synovium of the knees reflecting the non-inflammatory nature of the articular changes as is described in most patients with HPOA. In conclusion, the dynamic phases of the bone scan examination in HPOA reflect the pivotal underlying pathophysiological process of abnormally increased blood flow to the periosteal and periarticular tissues of involved long bones and finger pulps and further expands the known diagnostic features of this disease on bone scintigraphy

Cases of diffusely increased 18F FDG uptake in bone marrow

International Nuclear Information System (INIS)

Suga, Kazuyoshi; Kawakami, Yasuhiko; Matsunaga, Naofumi

2009-01-01

A whole body imaging of 18 F-fluorodeoxyglucose (FDG) positron emission tomography (PET)/CT provides assessment of FDG uptake in bone marrow and other systemic organs. Diffuse increase of FDG uptake in bone marrow can be associated with leukocytosis, infection, anemia, administration of granulocyte-colony stimulating factor or erythropoietin. and cytokine-producing neoplasms and myeloproliferative syndromes, and etc, and this finding can be an important sign indicative of hyper-metabolism in hemopoietic tissue associated by various etiology. Diffuse increase of FDG uptake in bone marrow affect on FDG uptake in other organs or primary lesions, and must be differentiated from diffuse bone marrow involvement of malignant tumors. In this paper, we report cases of diffuse increase of FDG uptake in bone marrow experienced in our hospital, and discuss the mechanisms and diagnostic importance of this finding, by referring to the published literatures. (author)

The Kenny syndrome, a rare type of growth deficiency with tubular stenosis, transient hypoparathyroidism and anomalies of refraction.

Science.gov (United States)

Majewski, F; Rosendahl, W; Ranke, M; Nolte, K

1981-03-01

One family (3 cases) with the Kenny syndrome and a second family (3 cases) with features of Kenny syndrome but lacking medullary stenosis are reported. The main symptoms in both families are proportionate dwarfism, cortical thickening of tubular bones, variable anomalies of the calvaria, anemia, transient hypoparathyroidism and variable ocular anomalies. The latter include microphthalmia, and moderate-to-severe myopia or hyperopia. In the first family there was medullary stenosis of most tubular bones. In the second family two cases exhibited mild-to-moderate cortical thickening of tubular bones, but absent or mild medullary stenosis. Possible variability of the Kenny syndrome is discussed. Endocrine studies failed to demonstrate any permanent disturbance of parathormone or calcitonin metabolism, or GH deficiency. Pathogenesis remains unclear. Autosomal dominant inheritance seems to be likely.

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...

Loss of Asxl1 Alters Self-Renewal and Cell Fate of Bone Marrow Stromal Cell, Leading to Bohring-Opitz-like Syndrome in Mice

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Peng Zhang

2016-06-01

Full Text Available De novo ASXL1 mutations are found in patients with Bohring-Opitz syndrome, a disease with severe developmental defects and early childhood mortality. The underlying pathologic mechanisms remain largely unknown. Using Asxl1-targeted murine models, we found that Asxl1 global loss as well as conditional deletion in osteoblasts and their progenitors led to significant bone loss and a markedly decreased number of bone marrow stromal cells (BMSCs compared with wild-type littermates. Asxl1−/− BMSCs displayed impaired self-renewal and skewed differentiation, away from osteoblasts and favoring adipocytes. RNA-sequencing analysis revealed altered expression of genes involved in cell proliferation, skeletal development, and morphogenesis. Furthermore, gene set enrichment analysis showed decreased expression of stem cell self-renewal gene signature, suggesting a role of Asxl1 in regulating the stemness of BMSCs. Importantly, re-introduction of Asxl1 normalized NANOG and OCT4 expression and restored the self-renewal capacity of Asxl1−/− BMSCs. Our study unveils a pivotal role of ASXL1 in the maintenance of BMSC functions and skeletal development.

Contribution of Circulatory Disturbances in Subchondral Bone to the Pathophysiology of Osteoarthritis.

Science.gov (United States)

Aaron, Roy K; Racine, Jennifer; Dyke, Jonathan P

2017-08-01

This review describes the contributions of abnormal bone circulation to the pathophysiology of osteoarthritis. Combining dynamic imaging with MRI and PET with previous observations reveals that venous stasis and a venous outlet syndrome is most likely the key circulatory pathology associated with the initiation or progression of osteoarthritis. MRI and PET have revealed that venous outflow obstruction results in physicochemical changes in subchondral bone to which osteoblasts are responsive. The osteoblasts express an altered pattern of cytokines, many of which can serve as structural or signaling molecules contributing to both bone remodeling and cartilage degeneration. The patterns of circulatory changes are associated with alterations in the physicochemical environment of subchondral bone, including hypoxia. Osteoblast cytokines can transit the subchondral bone plate and calcified cartilage and communicate with chondrocytes.

Ear malformations, hearing loss and hearing rehabilitation in children with Treacher Collins syndrome.

Science.gov (United States)

Rosa, Francisco; Coutinho, Miguel Bebiano; Ferreira, João Pinto; Sousa, Cecilia Almeida

2016-01-01

The aim of this study was to assess the main ear malformations, hearing loss and auditory rehabilitation in children with Treacher Collins syndrome. We performed a retrospective study of 9 children with Treacher Collins syndrome treated in a central hospital between January 2003 and January 2013. This study showed a high incidence of malformations of the outer and middle ear, such as microtia, atresia or stenosis of the external auditory canal, hypoplastic middle ear cavity, dysmorphic or missing ossicular chain. Most patients had bilateral hearing loss of moderate or high degree. In the individuals studied, there was functional improvement in patients with bone-anchored hearing aids in relation to conventional hearing aids by bone conduction. Treacher Collins syndrome is characterized by bilateral malformations of the outer and middle ear. Hearing rehabilitation in these children is of utmost importance, and bone-anchored hearing aids is the method of choice. Copyright © 2014 Elsevier España, S.L.U. y Sociedad Española de Otorrinolaringología y Cirugía de Cabeza y Cuello. All rights reserved.

A report of two cases of Al-Awadi Raas-Rothschild syndrome (AARRS) supporting that "apparent" Phocomelia differentiates AARRS from Schinzel Phocomelia syndrome (SPS).

Science.gov (United States)

AlQattan, Mohammad M; AlAbdulkareem, Ibrahim; Ballow, Mariam; Al Balwi, Mohammed

2013-09-15

Although there is a long list of syndromes with phocomelia, there are only two syndromes in which there is concurrent pelvic dysplasia and phocomelia: Al-Awadi-Raas-Rothschild syndrome (AARRS) and Schinzel phocomelia syndrome (SPS). Currently, there is a diagnostic confusion between the two syndromes and both have the same MIM entry (MIM 276820). We believe that the two syndromes are different entities and we also believe that the limb defect in SPS is a "true" phocomelia while the limb defect in AARRS is an "apparent" phocomelia. "Apparent" phocomelia describes the most severe form of ulnar ray deficiency in which there is absent ulna with radio-humeral synostosis. "Apparent" phocomelia is diagnosed radiologically by three radiological features: the apparently single bone occupying the arm/forearm appears relatively long, the area of radio-humeral synostosis will have thicker cortex with or without slight angulation, and the lower end of the bone resembles the lower end of a radius and not a humerus. In this paper, we present two new cases of AARRS from two different Saudi Arabian tribes: one case with R292C mutation of WNT7A with bilateral "apparent" phocomelia and a second case with a novel c.814G>T mutation of the WNT7A gene (resulting in wnt7a protein truncation at position 272) with unilateral "apparent" phocomelia. We reviewed previously reported cases of AARRS and SPS to further delineate the differences between these two syndromes. We make the argument that these two syndromes are two different entities and hence require two different MIM entries. Copyright © 2013 Elsevier B.V. All rights reserved.

Tourette syndrome, growth retardation, and platyspondyly: an entity?

NARCIS (Netherlands)

Scheper, Frederike Y.; Hennekam, Raoul C. M.

2002-01-01

A 14-year-old male is described with Tourette syndrome, platyspondyly, a marked delay in bone age, growth retardation that is more expressed in the limbs and talipes equinovarus. This appears to be a new entity

MULTIMODAL IMAGING OF ANGIOID STREAKS ASSOCIATED WITH TURNER SYNDROME.

Science.gov (United States)

Chiu, Bing Q; Tsui, Edmund; Hussnain, Syed Amal; Barbazetto, Irene A; Smith, R Theodore

2018-02-13

To report multimodal imaging in a novel case of angioid streaks in a patient with Turner syndrome with 10-year follow-up. Case report of a patient with Turner syndrome and angioid streaks followed at Bellevue Hospital Eye Clinic from 2007 to 2017. Fundus photography, fluorescein angiography, and optical coherence tomography angiography were obtained. Angioid streaks with choroidal neovascularization were noted in this patient with Turner syndrome without other systemic conditions previously correlated with angioid streaks. We report a case of angioid streaks with choroidal neovascularization in a patient with Turner syndrome. We demonstrate that angioid streaks, previously associated with pseudoxanthoma elasticum, Ehlers-Danlos syndrome, Paget disease of bone, and hemoglobinopathies, may also be associated with Turner syndrome, and may continue to develop choroidal neovascularization, suggesting the need for careful ophthalmic examination in these patients.

The evaluation of the bone marrow accumulation of Ga-67 citrate

Energy Technology Data Exchange (ETDEWEB)

Ohnishi, Takashi; Jinnouchi, Seishi; Hoshi, Hiroaki; Yoshimura, Hiroshi; Nagamachi, Shigeki; Watanabe, Katsushi (Miyazaki Medical Coll., Kiyotake (Japan))

1989-11-01

The bone marrow distribution of Ga-67 citrate may be influenced by various elements in serum. In order to make these points clear, 1,955 whole body images were reviewed on the relationship between the accumulation of bone marrow and laboratory examination data of each patients. Increasing accumulation in the bone marrow was determined as positive when the bones of lower extremities were deposited on the images, because these bones was not visualized in normal gallium image. Laboratory data of 20 patients without having bone marrow accumulation was used as control. The positive findings of bone marrow accumulation was observed in 38 patients (2%) including 23 malignancies and 15 benign disease. The malignant tumor infiltration to the bone marrow was demonstrated by bone marrow aspiration biopsy in 2 out of 7 patients with bone marrow accumulation of Ga-67. Seven out of 15 patients with benign disease were collagen disease such as aortitis syndrome or SLE. The values of hemoglobin, hematocrit, serum iron and creatinine clearance were significantly lower in the patients with positive findings in comparison with control. These results suggest that the lower level of serum iron and anemia may cause increasing bone marrow accumulation of Ga-67 citrate. (author).

The evaluation of the bone marrow accumulation of Ga-67 citrate

International Nuclear Information System (INIS)

Ohnishi, Takashi; Jinnouchi, Seishi; Hoshi, Hiroaki; Yoshimura, Hiroshi; Nagamachi, Shigeki; Watanabe, Katsushi

1989-01-01

The bone marrow distribution of Ga-67 citrate may be influenced by various elements in serum. In order to make these points clear, 1,955 whole body images were reviewed on the relationship between the accumulation of bone marrow and laboratory examination data of each patients. Increasing accumulation in the bone marrow was determined as positive when the bones of lower extremities were deposited on the images, because these bones was not visualized in normal gallium image. Laboratory data of 20 patients without having bone marrow accumulation was used as control. The positive findings of bone marrow accumulation was observed in 38 patients (2%) including 23 malignancies and 15 benign disease. The malignant tumor infiltration to the bone marrow was demonstrated by bone marrow aspiration biopsy in 2 out of 7 patients with bone marrow accumulation of Ga-67. Seven out of 15 patients with benign disease were collagen disease such as aortitis syndrome or SLE. The values of hemoglobin, hematocrit, serum iron and creatinine clearance were significantly lower in the patients with positive findings in comparison with control. These results suggest that the lower level of serum iron and anemia may cause increasing bone marrow accumulation of Ga-67 citrate. (author)

Micro-CT characterization of human trabecular bone in osteogenesis imperfecta

Science.gov (United States)

Jameson, John; Albert, Carolyne; Smith, Peter; Molthen, Robert; Harris, Gerald

2011-03-01

Osteogenesis imperfecta (OI) is a genetic syndrome affecting collagen synthesis and assembly. Its symptoms vary widely but commonly include bone fragility, reduced stature, and bone deformity. Because of the small size and paucity of human specimens, there is a lack of biomechanical data for OI bone. Most literature has focused on histomorphometric analyses, which rely on assumptions to extrapolate 3-D properties. In this study, a micro-computed tomography (μCT) system was used to directly measure structural and mineral properties in pediatric OI bone collected during routine surgical procedures. Surface renderings suggested a poorly organized, plate-like orientation. Patients with a history of bone-augmenting drugs exhibited increased bone volume fraction (BV/TV), trabecular number (Tb.N), and connectivity density (Eu.Conn.D). The latter two parameters appeared to be related to OI severity. Structural results were consistently higher than those reported in a previous histomorphometric study, but these differences can be attributed to factors such as specimen collection site, drug therapy, and assumptions associated with histomorphometry. Mineral testing revealed strong correlations with several structural parameters, highlighting the importance of a dual approach in trabecular bone testing. This study reports some of the first quantitative μCT data of human OI bone, and it suggests compelling possibilities for the future of OI bone assessment.

A clinical study evaluating bone mineral mass in the radius during skeletal growth

International Nuclear Information System (INIS)

Hagino, Hiroshi

1989-01-01

Using 125-I single photon absorptiometry, bone mineral measurements were performed on 206 healthy Japanese children (2 to 19 years of age). Bone mineral content (BMC), bone width (BW) and BMC/BW values were determined for the radius at distal 1/6 site (metaphysis) and distal 1/3 site (diaphysis). BMC/BW values at both sites correlated well with body height and weight. Bone mass in the diaphysis (distal 1/3 site) increased linearly during the 2-19 years of skeletal growth, but bone mass in the metaphysis (1/6 site) increased steeply during the pubertal period. In children receiving glucocorticoid therapy, bone mass was reduced in proportion to the duration of drug administration. In children under anticonvulsant therapy, the yearly increse in bone mass was significantly low especially in those patients with poor physical activity levels. Bone mineral decrease in the radius occurred in the children with hypopituitalism, hypothyroidism (cretinism), hyperthyroidism and Turner's syndrome. (author)

Skeletal abnormalities in fetuses with Down's syndrome: a radiographic post-mortem study

International Nuclear Information System (INIS)

Stempfle, N.; Brisse, H.; Huten, Y.; Fredouille, C.; Nessmann, C.

1999-01-01

Objective. To evaluate skeletal abnormalities on post-mortem radiographs of fetuses with Down's syndrome. Materials and methods. Biometrical and morphological criteria, which are used for US prenatal detection of trisomy 21, were assessed. Limb long bones, biparietal diameter (BPD)/occipito-frontal diameter (OFD) ratio, ossification of nasal bones and appearance of the middle phalanx of the fifth digit (P2) in 60 fetuses with Down's syndrome were analysed and compared with 82 normal fetuses matched for gestational age (GA) from 15 to 40 weeks' gestation (WG). Results. We observed reduced growth velocity of limb long bones during the third trimester in both groups, but the reduction was more pronounced in the trisomic group. Brachycephaly was found as early as 15 WG in Down's syndrome and continued throughout gestation (sensitivity 0.28, specificity 1). Ossification of the nasal bones, which can be detected in normal fetuses from 14 WG, was absent in one quarter of trisomic fetuses, regardless of GA. The middle phalanx of the fifth digit was evaluated by comparison with the distal phalanx (P3) of the same digit. We found that P2 was not ossified in 11/31 trisomic fetuses before 23 WG, and was either not ossified or hypoplastic in 17/29 cases after 24 WG (sensitivity 0.56, specificity 1). Conclusions. Three key skeletal signs were present in trisomic fetuses: brachycephaly, absence of nasal bone ossification, and hypoplasia of the middle phalanx of the fifth digit. All these signs are appropriate to prenatal US screening. When present, they fully justify determination of the fetal karyotype by amniocentesis. (orig.)

Absence of uptake of the rib cage; diagnosis of a Poland's syndrome with the bone SPECT-CT; Absence de fixation du gril costal: diagnostic d'un syndrome de Poland par la TEMP-TDM osseuse

Energy Technology Data Exchange (ETDEWEB)

Granier, P.; Mourad, M. [Centre Hospitalier Antoine-Gayraud, Service de Medecine Nucleaire, 11 - Carcassonne (France)

2008-09-15

We report the case of a 37-year-old man, investigated for pains of the right upper limb impairing the hand, the wrist and the shoulder after a surgery for fracture of the radius and the scaphoid. The {sup 99m}Tc-H.D.P. three-phase bone scintigraphy confirmed the diagnosis of acute phase of a reflex sympathetic dystrophy. The delayed images highlighted a focal absence of tracer uptake of the left anterior rib cage. The single photon emission computerized tomography guided by computerized tomography showed that it was related to the absence of the anterior part of the third and the fourth left ribs highlighting an aplasia of the left pectoralis major muscle. These anomalies led to the diagnosis of congenital malformation in connection with a Poland's syndrome. The differential diagnosis of this syndrome resulted in discussing the multiple etiologies of the photopenic lesions of the rib cage. (authors)

Bone marrow scintigraphy with 111In-chloride

International Nuclear Information System (INIS)

Kan, Masayasu; Miyamae, Tatsuya

1977-01-01

111 In-chloride as a useful bone marrow-scanning agent has been used for various hematological diseases. We also have studied the distribution of indium-111 by scintigraphy in 28 patients with systemic hematopoietic disorders and other: 4 with aplastic anemia, 8 with leucemia, 3 with iron-deficiency anemia, one with pernicious anemia, 2 with myelofibrosis, 3 with multiple myeloma, one with malignant lymphoma, 3 with liver cirrhosis or Banti-syndrome and 3 with seminoma received post operative irradiation. The results of scintigraphy (the image of bone marrow, liver, spleen, kidney and intestine) were compared with bone marrow biopsies, ferrokinetic data and Se.I./TIBC. The bone marrow image was interpreted on a three-point scale: normal distribution of activity (+), abnormal distribution (+-), body back ground level (-). In the cases of iron-deficiency anemia and pernicious anemia with hyperplastic erythroid marrow, regardless of its severe anemia, the scintigrams showed clearly delineated bone marrow images and normal organ distribution of indium. On the other hand, the scan images revealed severe suppressions of bone marrow activity and markedly increased renal activity in some cases of aplastic anemia, acute leucemia and malignant lymphoma with hypoplastic and/or tumour-cell infiltrative marrows. Thus, it may be said that the bone marrow uptake of indium-111 correlates well with the degree of erythroid elements, no correlation with nucleated cell counts, and there is a strong tendency to increased renal activity in the cases of markedly decreased erythropoietic cell counts. (auth.)

Short bowel syndrome

International Nuclear Information System (INIS)

Engels, L.G.J.B.

1983-01-01

This thesis describes some aspects of short bowel syndrome. When approximately 1 m or less small bowel is retained after extensive resection, a condition called short bowel syndrome is present. Since the advent of parenteral nutrition, the prognosis of patients with a very short bowel has dramatically improved. Patients with 40 to 100 cm remaining jejunum and/or ileum can generally be maintained with oral nutrition due to increased absorption of the small bowel remnant as result of intestinal adaptation. This study reports clinical, biochemical and nutritional aspects of short bowel patients on oral or parenteral nutrition, emphasizing data on absorption of various nutrients and on bone metabolism. Furthermore, some technical apsects concerning long-term parenteral nutrition are discussed. (Auth.)

Ellis-van Creveld syndrome in an Indian child: a case report

OpenAIRE

Veena, K.M.; Jagadishchandra, H.; Rao, Prasanna Kumar; Chatra, Laxmikanth

2011-01-01

Ellis-van Creveld syndrome is a rare congenital genetic disorder having autosomal recessive inheritance. It is a syndrome affecting the Amish population of Pennsylvania in USA with prevalence rate of 1/5,000 live at birth. In non-Amish population, the birth prevalence is 7/1,000,000. The syndrome is characterized by bilateral postaxial polydactyly of the hands, chondrodysplasia of long bones resulting in acromesomelic dwarfism, ectodermal dysplasia affecting nails as well as teeth and congeni...

Reproducibility of the World Health Organization 2008 criteria for myelodysplastic syndromes.

Science.gov (United States)

Senent, Leonor; Arenillas, Leonor; Luño, Elisa; Ruiz, Juan C; Sanz, Guillermo; Florensa, Lourdes

2013-04-01

The reproducibility of the World Health Organization 2008 classification for myelodysplastic syndromes is uncertain and its assessment was the major aim of this study. The different peripheral blood and bone marrow variables required for an adequate morphological classification were blindly evaluated by four cytomorphologists in samples from 50 patients with myelodysplastic syndromes. The degree of agreement among observers was calculated using intraclass correlation coefficient and the generalized kappa statistic for multiple raters. The degree of agreement for the percentages of blasts in bone marrow and peripheral blood, ring sideroblasts in bone marrow, and erythroid, granulocytic and megakaryocytic dysplastic cells was strong (P<0.001 in all instances). After stratifying the percentages according to the categories required for the assignment of World Health Organization subtypes, the degree of agreement was not statistically significant for cases with 5-9% blasts in bone marrow (P=0.07), 0.1-1% blasts in peripheral blood (P=0.47), or percentage of erythroid dysplastic cells (P=0.49). Finally, the interobserver concordance for World Health Organization-defined subtypes showed a moderate overall agreement (P<0.001), the reproducibility being lower for cases with refractory anemia with excess of blasts type 1 (P=0.05) and refractory anemia with ring sideroblasts (P=0.09). In conclusion, the reproducibility of the World Health Organization 2008 classification for myelodysplastic syndromes is acceptable but the defining criteria for blast cells and features of erythroid dysplasia need to be refined.

{sup 18}F-FDG PET/CT in POEMS syndrome

Energy Technology Data Exchange (ETDEWEB)

An, Young Sil; Yoon, Joon Kee; Hong, Seon Pyo; Joh, Chul Woo; Yoon, Seok Nam [Ajou University School of Medicine, Suwon (Korea, Republic of)

2007-02-15

POEMS syndrome is a rare disorder, also known as Crow-Fukase, PEP or Takatsuki syndrome. The acronym, POEMS, represents polyneuropathy, organomegaly, endocrinopathy, M protein and skin change. However, there are associated features not included in the acronym such as sclerotic bone lesions, Castleman disease, papilledema, thromobocytosis, peripheral edema, ascites, effusion, polycythemia, fatigue and clubbing. In most cases, osseous lesions in POEMS syndrome present as an isolated sclerotic deposit and that reveal as osteosclerotic myeloma. Several cases of {sup 18}F-FDG PET in multiple myeloma involvements were reported, but there was no previous literature that reported FDG PET findings in POEMS syndrome. We describe here a 66-year-old patient with POEMS syndrome who underwent {sup 18}F-FDG PET/CT image.

Diagnostic values of bone scintigram for painful disorders of the hand and the wrist

International Nuclear Information System (INIS)

Ogura, Kazuhisa; Yamauchi, Yasuo; Kusunose, Koichi; Sugiyama, Masaru; Honjou, Yuji

1998-01-01

From April 1993 to April 1997, 43 patients underwent bone scintigraphic examination for various painful conditions in the hand and the wrist joint. Three hours after an intravenous injection of 740 MBq of TC-99m HMDP, wrist scintigram was obtained. Of 18 patients with ulnar wrist pain, 12 patients had positive scan. The accumulation pattern in the five cases of ulnocarpal abutment syndrome showed different patterns. Slight difference of the accumulation between the ulnar head and the ulnar styloid process was well differentiated. Each carpal bone could be well identified, but when two bones were overlapping as in the triquetrum and the pisiform, additional physical findings were helpful. Six patients showed negative scan. The two patients with positive triangular fibrocartilage (TFC) tear but with negative bone scan showed no bony involvement, whereas those with TFC tear and positive scan were the ones having some bony disorders such as ulnocarpal abutment syndrome. Of 25 patients with wrist pain other than ulnar pain, 14 patients had positive scan. The remaining 11 patients who had negative scan included three patients with occult ganglion, two with wrist sprain and six with various disorders. (K.H.)

Diagnostic values of bone scintigram for painful disorders of the hand and the wrist

Energy Technology Data Exchange (ETDEWEB)

Ogura, Kazuhisa; Yamauchi, Yasuo; Kusunose, Koichi; Sugiyama, Masaru; Honjou, Yuji [Juntendo Univ., Tokyo (Japan). School of Medicine

1998-02-01

From April 1993 to April 1997, 43 patients underwent bone scintigraphic examination for various painful conditions in the hand and the wrist joint. Three hours after an intravenous injection of 740 MBq of TC-99m HMDP, wrist scintigram was obtained. Of 18 patients with ulnar wrist pain, 12 patients had positive scan. The accumulation pattern in the five cases of ulnocarpal abutment syndrome showed different patterns. Slight difference of the accumulation between the ulnar head and the ulnar styloid process was well differentiated. Each carpal bone could be well identified, but when two bones were overlapping as in the triquetrum and the pisiform, additional physical findings were helpful. Six patients showed negative scan. The two patients with positive triangular fibrocartilage (TFC) tear but with negative bone scan showed no bony involvement, whereas those with TFC tear and positive scan were the ones having some bony disorders such as ulnocarpal abutment syndrome. Of 25 patients with wrist pain other than ulnar pain, 14 patients had positive scan. The remaining 11 patients who had negative scan included three patients with occult ganglion, two with wrist sprain and six with various disorders. (K.H.)

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. Copyright © 2016. Published by Elsevier Inc.

Role and mechanism of action of Sclerostin in bone

Science.gov (United States)

Delgado-Calle, Jesus; Sato, Amy Y.; Bellido, Teresita

2016-01-01

After discovering that lack of Sost/sclerostin expression is the cause of the high bone mass human syndromes Van Buchem disease and sclerosteosis, extensive animal experimentation and clinical studies demonstrated that sclerostin plays a critical role in bone homeostasis and that its deficiency or pharmacological neutralization increases bone formation. Dysregulation of sclerostin expression also underlies the pathophysiology of skeletal disorders characterized by loss of bone mass as well as the damaging effects of some cancers in bone. Thus, sclerostin has quickly become a promising molecular target for the treatment of osteoporosis and other skeletal diseases, and beneficial skeletal outcomes are observed in animal studies and clinical trials using neutralizing antibodies against sclerostin. However, the anabolic effect of blocking sclerostin decreases with time, bone mass accrual is also accompanied by anti-catabolic effects, and there is bone loss over time after therapy discontinuation. Further, the cellular source of sclerostin in the bone/bone marrow microenvironment under physiological and pathological conditions, the pathways that regulate sclerostin expression and the mechanisms by which sclerostin modulates the activity of osteocytes, osteoblasts, and osteoclasts remain unclear. In this review, we highlight the current knowledge on the regulation of Sost/sclerotin expression and its mechanism(s) of action, discuss novel observations regarding its role in signaling pathways activated by hormones and mechanical stimuli in bone, and propose future research needed to understand the full potential of therapeutic interventions that modulate Sost/sclerostin expression. PMID:27742498

Starvation marrow – gelatinous transformation of bone marrow

Directory of Open Access Journals (Sweden)

Eric Osgood

2014-09-01

Full Text Available Gelatinous bone marrow transformation (GMT, also known as starvation marrow, represents a rare pathological entity of unclear etiology, in which bone marrow histopathology demonstrates hypoplasia, fat atrophy, and gelatinous infiltration. The finding of gelatinous marrow transformation lacks disease specificity; rather, it is an indicator of severe illness and a marker of poor nutritional status, found in patients with eating disorders, acute febrile illnesses, acquired immunodeficiency syndrome, alcoholism, malignancies, and congestive heart failure. We present a middle-aged woman with a history of alcoholism, depression, and anorexia nervosa who presented with failure to thrive and macrocytic anemia, with bone marrow examination demonstrative of gelatinous transformation, all of which resolved with appropriate treatment. To our knowledge, there are very few cases of GMT which have been successfully treated; thus, our case highlights the importance of proper supportive management.

Bone pain induced by metastatic cancer: pathophysiology and treatment

International Nuclear Information System (INIS)

Salas-Herrera, Isaias; Huertas-Gabert, Luis Carlos

2004-01-01

Cancer patients who develop bone metastases are an estimated 60 to 84% . Of these 79% experienced pain syndromes are difficult to manage, of which 50% die without adequate pain relief and with a poor quality of life. Therefore, it is necessary to have accessible and effective medications for the management of this condition. The pathophysiology of pain in bone is reviewed and the drugs used most frequently in the management of this type of cancer pain are described. Furthermore an algorithm of 6 steps is presented and can guide the physician when making a therapeutic decision. (author) [es

Pretreatment with ascorbic acid prevents lethal gastrointestinal syndrome in mice receiving a massive amount of radiation

International Nuclear Information System (INIS)

Yamamoto, Tetsuo; Kinoshita, Manabu; Shinomiya, Nariyoshi; Hiroi, Sadayuki; Sugasawa, Hidekazu; Majima, Takashi; Seki, Shuhji; Matsushita, Yoshitaro; Saitoh, Daizoh

2010-01-01

While bone marrow or stem cell transplantation can rescue bone marrow aplasia in patients accidentally exposed to a lethal radiation dose, radiation-induced irreversible gastrointestinal damage (GI syndrome) is fatal. We investigated the effects of ascorbic acid on radiation-induced GI syndrome in mice. Ascorbic acid (150 mg/kg/day) was orally administered to mice for 3 days, and then the mice underwent whole body irradiation (WBI). Bone marrow transplantation (BMT) 24 h after irradiation rescued mice receiving a WBI dose of less than 12 Gy. No mice receiving 14 Gy-WBI survived, because of radiation-induced GI syndrome, even if they received BMT. However, pretreatment with ascorbic acid significantly suppressed radiation-induced DNA damage in the crypt cells and prevented denudation of intestinal mucosa; therefore, ascorbic acid in combination with BMT rescued mice after 14 Gy-WBI. DNA microarray analysis demonstrated that irradiation up-regulated expressions of apoptosis-related genes in the small intestine, including those related to the caspase-9-mediated intrinsic pathway as well as the caspase-8-mediated extrinsic pathway, and down-regulated expressions of these genes in ascorbic acid-pretreated mice. Thus, pretreatment with ascorbic acid may effectively prevent radiation-induced GI syndrome. (author)

[Bone metabolism, biochemical markers of bone resorption and formation processes and interleukine 6 cytokin level during coeliac disease].

Science.gov (United States)

Fekih, Monia; Sahli, Hela; Ben Mustapha, Nadia; Mestiri, Imen; Fekih, Moncef; Boubaker, Jalel; Kaabachi, Naziha; Sellami, Mohamed; Kallel, Lamia; Filali, Azza

2013-01-01

Celiac disease (CD) is characterized by a malabsorption syndrom. The bone anomalies are one of the principal complications of this disease. The osteoporosis frequency is high: 3.4% among patients having with CD versus 0.2% in the general population. To study the bone mineral density during the CD, to compare it to a control group and to determine the anomalies of biochemical markers of bone turn over and level of interleukin 6 cytokin (IL6) in these patients. All patients with CD have a measurement of bone mineral density by dual-energy x-ray absorptiometry (DXA), a biological exam with dosing calcemia, vitamin D, parathormone (PTH), the osteoblastic bone formation markers (serum osteocalcin, ALP phosphates alkaline), bone osteoclastic activity (C Télopeptide: CTX) and of the IL6. 42 patients were included, with a median age of 33.6 years. 52. 8% of the patients had a low level of D vitamine associated to a high level of PTH. An osteoporosis was noted in 21.5% of patients. No case of osteoporosis was detected in the control group. The mean level of the CTX, ostéocalcine and the IL6 was higher among patients having an osteoporosis or ostéopenia compared to patients with normal bone (p = 0,017). The factors associated with an bone loss (osteopenia or osteoporosis) were: an age > 30 years, a weight 90 UI/ml, an hypo albuminemia < 40 g/l and a level of CTX higher than 1.2. Our study confirms the impact of the CD on the bone mineral statute. The relative risk to have an osteopenia or an osteoporosis was 5 in our series. The measurement of the osseous mineral density would be indicated among patients having a CD.

UMF-synthetase activity in rat tissue extracts with the bone 4 marrow form of radiation sickness

International Nuclear Information System (INIS)

Levitova, E.N.; Koshcheenko, N.N.; Romantsev, E.F.

1986-01-01

Whole-body γ-irradiation of rats with a dose inducing bone marrow radiation syndrome caused phase organospecific chages in UMP-synthase activity. Disturbances of enzymic activity in the bone marrow and spleen well correlated with the dynamics of interphase and reproductive cell death. In brain extracts, UMP biosynthesis from orotic acid did not undergo essential changes

Bone resorption is decreased postprandially by intestinal factors and glucagon-like peptide-2 is a possible candidate

DEFF Research Database (Denmark)

Holst, Jens Juul; Hartmann, Bolette; Gottschalck, Ida B

2007-01-01

-bowel syndrome (SBS) or total gastrectomy in order to elucidate whether the signal for the meal-induced reduction of bone resorption is initiated from the stomach or the intestine. MATERIAL AND METHODS: Bone resorption was assessed from the serum concentration of collagen type I C-telopeptide cross-links (s......OBJECTIVE: Food intake inhibits bone resorption by a mechanism thought to involve gut hormones, and the intestinotrophic glucagon-like peptide 2 (GLP-2) is a candidate because exogenous GLP-2 inhibits bone resorption in humans. The purpose of the study was to investigate patients with short...

Middle and inner ear malformations in mutation-proven branchio-oculo-facial (BOF) syndrome: case series and review of the literature.

Science.gov (United States)

Carter, Melissa T; Blaser, Susan; Papsin, Blake; Meschino, Wendy; Reardon, Willie; Klatt, Regan; Babul-Hirji, Riyana; Milunsky, Jeff; Chitayat, David

2012-08-01

Hearing impairment is common in individuals with branchio-oculo-facial (BOF) syndrome. The majority of described individuals have conductive hearing impairment due to malformed ossicles and/or external canal stenosis or atresia, although a sensorineural component to the hearing impairment in BOF syndrome is increasingly being reported. Sophisticated computed tomography (CT) of the temporal bone has revealed middle and inner ear malformations in three previous reports. We present middle and inner ear abnormalities in three additional individuals with mutation-proven BOF syndrome. We suggest that temporal bone CT imaging be included in the medical workup of a child with BOF syndrome, in order to guide management. Copyright © 2012 Wiley Periodicals, Inc.

Os trigonum syndrome: use of bone scan in the diagnosis

International Nuclear Information System (INIS)

Johnson, R.P.; Collier, B.D.; Carrera, G.F.

1984-01-01

The os trigonum is an accessory bone of the foot found in 7% of the normal adult population. It is located at the posterolateral projection of the talus, and can occasionally give rise to symptoms of acute and chronic unexplained ankle pain. We report three patients, one with acute fracture and two with chronic ankle symptoms. Technetium 99 methylene diphosphonate showed intense focal uptake at the posterior talus pointing to the os trigonum as the site of symptoms. It was excised in two patients with complete relief. The third went on to develop an asymptomatic nonunion. We recommend bone scanning as a procedure that is helpful in delineating obscure pain in the ankle that may be due to chronic irritative nonunion of the os trigonum

Nevoid Basal Cell Carcinoma Syndrome : A Case Report

Directory of Open Access Journals (Sweden)

K Rajanikanth

2004-01-01

Full Text Available The nevoid basal cell carcinoma syndrome (NBCCS or Gorlin - Goltz syndrome is an autosomal disorder principally characterized by cutaneous basal cell carcinomas, multiple keratocysts, and skeletal anomalies. The major organ systems involved are skin, bones, central nervous system, eyes, gonads and endocrine. This particular syndrome is extensively described in the literature under different names. However, there are only few cases reported in the Indian literature. An unusual case of a 33-year old male with large odontogenic keratocyst involving impacted canine in the mandible, along with multiple cysts and impacted teeth in the maxilla; bifid rib and vertebral anomalies has been described.

BMI and BMD: The Potential Interplay between Obesity and Bone Fragility

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Andrea Palermo

2016-05-01

Full Text Available Recent evidence demonstrating an increased fracture risk among obese individuals suggests that adipose tissue may negatively impact bone health, challenging the traditional paradigm of fat mass playing a protective role towards bone health. White adipose tissue, far from being a mere energy depot, is a dynamic tissue actively implicated in metabolic reactions, and in fact secretes several hormones called adipokines and inflammatory factors that may in turn promote bone resorption. More specifically, Visceral Adipose Tissue (VAT may potentially prove detrimental. It is widely acknowledged that obesity is positively associated to many chronic disorders such as metabolic syndrome, dyslipidemia and type 2 diabetes, conditions that could themselves affect bone health. Although aging is largely known to decrease bone strength, little is yet known on the mechanisms via which obesity and its comorbidities may contribute to such damage. Given the exponentially growing obesity rate in recent years and the increased life expectancy of western countries it appears of utmost importance to timely focus on this topic.

Eagle's Syndrome

Science.gov (United States)

Pinheiro, Thaís Gonçalves; Soares, Vítor Yamashiro Rocha; Ferreira, Denise Bastos Lage; Raymundo, Igor Teixeira; Nascimento, Luiz Augusto; Oliveira, Carlos Augusto Costa Pires de

2013-01-01

Summary 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. PMID:25992033

Eagle's Syndrome

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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.

Exploration of the S.A.P.H.O. syndrome: PET/CT with {sup 18}FNa vs planar osseous scintigraphy; Exploration du syndrome SAPHO: TEP/TDM au {sup 18}FNa vs scintigraphie osseuse planaire

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Ben Ali, K.; Poisson, T.; Hayem, G.; Lebtahi, R.; Sarda-Mantel, L.; Burg, S.; Meyer, O.; Le Guludec, D. [Groupe hospitalier Bichat-Claude-Bernard, 75 - Paris (France)

2010-07-01

Our purpose was to study the interest of the PET/CT with {sup 18}FNa (F Na-PET/CT) in the assessment of the lesions synovitis acne pustulosis hyperostosis osteitis (S.A.P.H.O.) syndrome compared to bone planar scintigraphy with hydroxy-methylene diphosphonate (H.M.D.P.) labelled with {sup 99m}Tc. The preliminary results suggest an increase of sensitivity of the F Na-PET/CT compared to bone scintigraphy in the S.A.P.H.O. syndrome exploration ( particularly for the rachis injuries, tips and enthesopathies), without loss of specificity. (N.C.)

Os trigonum syndrome: A retrospective and comparative study

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Nihat Taşdemir

2012-03-01

Full Text Available Objectives: The aim of this study was to evaluate the os trigonum syndrome by magnetic resonance imaging (MRI.Materials and methods: A total of 76 ankle MRI images were evaluated, retrospectively. All MRI examinations were done in supine position with the injured foot in neutral position and then in forced plantar flexion.Results: Os trigonum syndrome was seen in 16/76 cases. Four of 16 os trigonum syndrome patients are female. The average age of this 16 patients who were defined as os trigonum syndrome by MRI was 34.81±14.16 years. Twelve of 16 os trigonum syndrome was seen in right ankle. Disruption of the cartilaginous synchondrosis between the accessory bone and the talus was observed in 12 patients. Tenosynovitis of the flexor halluces longus was associated in 7 patients. Subcutan edema, surrounding the os trigonum was detected in 11 patients.Conclusion: In patients with ostrigonum syndrome MR imaging allows complete diagnosis.

A rare cause of tall stature: Sotos syndrome

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Nagehan Aslan

2014-12-01

Full Text Available Sotos syndrome is an excessive growth syndrome and is characterized by macrocephaly, typical facial appearance and mental retardation. The majority of cases are sporadic, autosomal dominant inheritance pattern matching families have been reported. Syndrome responsible for gen encodes the nuclear receptor-binding SET domain1 (NSD1 protein. This rare genetic syndrome firstly described by Sotos et al. in 1964 at five cases with excessive height, acromegalic appearance and mild mental retardation. Hairline high forehead, macrocephaly, frontal bossing, long and thin face, frontotemporal hair sparseness, down slanting palpebral fissures and prominent mandible creating characteristic facial appearance and advanced bone age and varying degrees of mental retardation are other diagnostic criteria. Cardiovascular, central nervous system and genitourinary system anomalies may be associated with syndrome. In this case report we presenting a case who admitted to our clinic because of the rapid growth and mild mental retardation and diagnosed with Sotos syndrome for emphasize the importance of growth monitoring.

Bone marrow transplantation - a field in continuous development

International Nuclear Information System (INIS)

Pfeffer, P.F.

1975-01-01

The symptoms of the radiation syndrome are described briefly and the Vinca accident in 1958 is used as an illustration of the application of bone marrow transplantation as a treatment in radiation accidents. Thereafter the immunological problems arising when a permanent substitution of donor marrow is required are discussed. Greatest experience in bone marrow transplantation has been had in the treatment of aplastic anemia and acute leukemia. In these cases the recipient's bone marrow cells must be killed by whole body irradiation or by cyclophosphamide to preclude graft-host reaction. The removal of marrow from the donor and transplanting in the recipient are described, as is the progress of the patient in a typical case. The graft-host reaction is then discussed, as is the danger of secondary infections. In conclusion the long term results are evaluated and the future developments of the treatment discussed. (JIW)

EXAMINATION RESULTS OF CHILDREN WITH CERVICAL SYNDROME

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N. H. Bakhteeva

2010-01-01

Full Text Available By the example of examination of 80 children aged from 4 to 18 with cervical syndrome it is indicated, that the diagnosed abnormalities of hemodynamics in vertebrobasilar basin in patients of all age groups are connected both with bone and vascular pathology of the cervical part of the spine. The pathology has functional or congenital character. Early detection of discicirculatory vascular injuries in the cervical part of the spine in children with cervical syndrome will allow to define the therapeutic management of patients and to prolong juvenile osteochondrosis clinical behaviour.

Diagnostic Overlap between Fanconi Anemia and the Cohesinopathies: Roberts Syndrome and Warsaw Breakage Syndrome

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Petra van der Lelij

2010-01-01

Full Text Available Fanconi anemia (FA is a recessively inherited disease characterized by multiple symptoms including growth retardation, skeletal abnormalities, and bone marrow failure. The FA diagnosis is complicated due to the fact that the clinical manifestations are both diverse and variable. A chromosomal breakage test using a DNA cross-linking agent, in which cells from an FA patient typically exhibit an extraordinarily sensitive response, has been considered the gold standard for the ultimate diagnosis of FA. In the majority of FA patients the test results are unambiguous, although in some cases the presence of hematopoietic mosaicism may complicate interpretation of the data. However, some diagnostic overlap with other syndromes has previously been noted in cases with Nijmegen breakage syndrome. Here we present results showing that misdiagnosis may also occur with patients suffering from two of the three currently known cohesinopathies, that is, Roberts syndrome (RBS and Warsaw breakage syndrome (WABS. This complication may be avoided by scoring metaphase chromosomes—in addition to chromosomal breakage—for spontaneously occurring premature centromere division, which is characteristic for RBS and WABS, but not for FA.

Loss of Asxl1 Alters Self-Renewal and Cell Fate of Bone Marrow Stromal Cell, Leading to Bohring-Opitz-like Syndrome in Mice.

Science.gov (United States)

Zhang, Peng; Xing, Caihong; Rhodes, Steven D; He, Yongzheng; Deng, Kai; Li, Zhaomin; He, Fuhong; Zhu, Caiying; Nguyen, Lihn; Zhou, Yuan; Chen, Shi; Mohammad, Khalid S; Guise, Theresa A; Abdel-Wahab, Omar; Xu, Mingjiang; Wang, Qian-Fei; Yang, Feng-Chun

2016-06-14

De novo ASXL1 mutations are found in patients with Bohring-Opitz syndrome, a disease with severe developmental defects and early childhood mortality. The underlying pathologic mechanisms remain largely unknown. Using Asxl1-targeted murine models, we found that Asxl1 global loss as well as conditional deletion in osteoblasts and their progenitors led to significant bone loss and a markedly decreased number of bone marrow stromal cells (BMSCs) compared with wild-type littermates. Asxl1(-/-) BMSCs displayed impaired self-renewal and skewed differentiation, away from osteoblasts and favoring adipocytes. RNA-sequencing analysis revealed altered expression of genes involved in cell proliferation, skeletal development, and morphogenesis. Furthermore, gene set enrichment analysis showed decreased expression of stem cell self-renewal gene signature, suggesting a role of Asxl1 in regulating the stemness of BMSCs. Importantly, re-introduction of Asxl1 normalized NANOG and OCT4 expression and restored the self-renewal capacity of Asxl1(-/-) BMSCs. Our study unveils a pivotal role of ASXL1 in the maintenance of BMSC functions and skeletal development. Copyright © 2016 The Author(s). Published by Elsevier Inc. All rights reserved.

Superior Canal Dehiscence Syndrome: Lessons from the First 20 Years

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Bryan K. Ward

2017-04-01

Full Text Available Superior semicircular canal dehiscence syndrome was first reported by Lloyd Minor and colleagues in 1998. Patients with a dehiscence in the bone overlying the superior semicircular canal experience symptoms of pressure or sound-induced vertigo, bone conduction hyperacusis, and pulsatile tinnitus. The initial series of patients were diagnosed based on common symptoms, a physical examination finding of eye movements in the plane of the superior semicircular canal when ear canal pressure or loud tones were applied to the ear, and high-resolution computed tomography imaging demonstrating a dehiscence in the bone over the superior semicircular canal. Research productivity directed at understanding better methods for diagnosing and treating this condition has substantially increased over the last two decades. We now have a sound understanding of the pathophysiology of third mobile window syndromes, higher resolution imaging protocols, and several sensitive and specific diagnostic tests. Furthermore, we have a treatment (surgical occlusion of the superior semicircular canal that has demonstrated efficacy. This review will highlight some of the fundamental insights gained in SCDS, propose diagnostic criteria, and discuss future research directions.

McCune-Albright Syndrome: A Case Report and Literature Review

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Moein Mobini

2014-04-01

Full Text Available McCune-Albright syndrome (MAS is a rare, heterogenous, clinical condition caused by a rare genetic mutation. The disorder is more common in females and is characterized by a triad of cutaneous, bone and endocrine abnormalities.  We describe a girl patient with MAS having precocious puberty and multiple cafe-au-lait macules and deforming polyostotic fibrous dysplasia of bone. Clinical presentation and X-ray finding were strongly diagnostic for MAS, Patients with McCune-Albright syndrome reach the adult age with a significant burden of the disease that continuously reduces their quality of life. Skeletal deformities, fractures, hyperthyroidism, and hyperestrogenism are just few of the many challenges in the management of these patients. These disorders with close observation and early detection can be controlled.

Aetiology and mechanisms of injury in medial tibial stress syndrome: Current and future developments

OpenAIRE

Franklyn, Melanie; Oakes, Barry

2015-01-01

Medial tibial stress syndrome (MTSS) is a debilitating overuse injury of the tibia sustained by individuals who perform recurrent impact exercise such as athletes and military recruits. Characterised by diffuse tibial anteromedial or posteromedial surface subcutaneous periostitis, in most cases it is also an injury involving underlying cortical bone microtrauma, although it is not clear if the soft tissue or cortical bone reaction occurs first. Nuclear bone scans and magnetic resonance imagin...

Intracranial calcification in Raine syndrome: radiological pathological correlation

International Nuclear Information System (INIS)

Al Mane, K.; Al-Dayel, F.; McDonald, P.

1998-01-01

We report the seventh known patient with Raine syndrome, a recently recognised, lethal sclerosing bone dysplasia associated with severe craniofacial dysmorphism and intracranial calcification in whom the CT findings are correlated with the gross and microscopic abnormalities found in the brain at autopsy. (orig.)

Klippel – Feil Syndrome Associated with Congential Heart Disease Presentaion of Cases and a Review of the Curent Literature

OpenAIRE

Bejiqi, Ramush; Retkoceri, Ragip; Bejiqi, Hana; Zeka, Naim

2015-01-01

First time described in 1912, from Maurice Klippel and Andre Feil independently, Klippel-Feil syndrome (synonyms: cervical vertebra fusion syndrome, Klippel-Feil deformity, Klippel-Feil sequence disorder) is a bone disorder characterized by the abnormal joining (fusion) of two or more spinal bones in the neck (cervical vertebrae), which is present from birth. Three major features result from this abnormality: a short neck, a limited range of motion in the neck, and a low hairline at the back ...

Soft-tissue mineralization in Werner syndrome

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Leone, Antonio; Costantini, Alessandro Maria; Brigida, Raffaela; Antoniol, Onorina Monica; Bonomo, Lorenzo [Universita Cattolica School of Medicine, Department of Radiology, Rome (Italy); Antonelli-Incalzi, Raffaele [Universita Cattolica School of Medicine, Department of Geriatrics, Rome (Italy)

2005-01-01

Werner syndrome is a rare autosomal recessive disorder characterized by clinical signs of premature aging, short stature, scleroderma-like skin changes, endocrine abnormalities, cataracts, and an increased incidence of malignancies. We report on a 48-year-old woman with Werner syndrome associated with intracranial meningiomas who had extensive musculoskeletal manifestations including osteoporosis of the extremities, extensive tendinopathy about the ankles, osteomyelitis of the phalanges of the first left toe, abundant soft-tissue calcification, and two dense ossified soft-tissue masses, with cortical bone and trabeculae arising from the posterosuperior aspect of the calcanei and extending into Kager fat pads. A review of previous descriptions of the radiological abnormalities of Werner syndrome indicates that the presence of soft-tissue calcifications has either not been noted or been mentioned only briefly. Moreover, there is no mention of bony masses associated with Werner syndrome in the world literature, and this would appear to be the first report of this kind. (orig.)

Hemophagocytic syndrome in classic dengue fever

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Sayantan Ray

2011-01-01

Full Text Available A 24-year-old previously healthy girl presented with persistent fever, headache, and jaundice. Rapid-test anti-dengue virus IgM antibody was positive but anti-dengue IgG was nonreactive, which is suggestive of primary dengue infection. There was clinical deterioration during empiric antibiotic and symptomatic therapy. Bone marrow examination demonstrated the presence of hemophagocytosis. Diagnosis of dengue fever with virus-associated hemophagocytic syndrome was made according to the diagnostic criteria of the HLH 2004 protocol of the Histiocyte Society. The patient recovered with corticosteroid therapy. A review of literature revealed only a handful of case reports that showed the evidence that this syndrome is caused by dengue virus. Our patient is an interesting case of hemophagocytic syndrome associated with classic dengue fever and contributes an additional case to the existing literature on this topic. This case highlights the need for increased awareness even in infections not typically associated with hemophagocytic syndrome.

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.

Clinical study evaluating bone mineral mass in the radius during skeletal growth. Single photon absorptiometry

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Hagino, Hiroshi

1989-01-01

Using 125-I single photon absorptiometry, bone mineral measurements were performed on 206 healthy Japanese children (2 to 19 years of age). Bone mineral content (BMC), bone width (BW) and BMC/BW values were determined for the radius at distal 1/6 site (metaphysis) and distal 1/3 site (diaphysis). BMC/BW values at both sites correlated well with body height and weight. Bone mass in the diaphysis (distal 1/3 site) increased linearly during the 2-19 years of skeletal growth, but bone mass in the metaphysis (1/6 site) increased steeply during the pubertal period. In children receiving glucocorticoid therapy, bone mass was reduced in proportion to the duration of drug administration. In children under anticonvulsant therapy, the yearly increse in bone mass was significantly low especially in those patients with poor physical activity levels. Bone mineral decrease in the radius occurred in the children with hypopituitalism, hypothyroidism (cretinism), hyperthyroidism and Turner's syndrome.

Acquired hyperostosis syndrome. Pt. 2

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

1988-12-01

In the second part of this publication, we describe some additional findings in cases of sternocostoclavicular hyperostosis (SCCH). These include focal hyperostosis of the spine, in the pelvis and in the extremities and psoriatric skin lesions and severe forms of acne (acne conglobata, acne fulminans). An analysis of our 13 patients and of the relevant literature indicates that the hyperostosis is due to increased bone metabolism and heterotopic ossification of fibrous tissue and that these are the pathogenic bases of the changes in the axial skeleton, the pelvis and the bones of the extremities. We have suggested a scheme which would categorise the syndrom into complete, incomplete and possibly acquired forms. (orig./GDG).

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.

Osteogenesis imperfecta with joint contractures: Bruck syndrome

International Nuclear Information System (INIS)

Blacksin, M.F.; Pletcher, B.A.; David, M.

1998-01-01

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.)

Distal renal tubular acidosis as a cause of osteomalacia in a patient with primary Sjögren's syndrome

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Jovelić Aleksandra

2005-01-01

Full Text Available Background. One half of the patients with primary Sjögren’s syndrome has extraglandular manifestations, including renal involvement. The most frequent renal lesion is tubulo-interstitial nephritis, which manifests clinically as distal tubular acidosis and may result in the development of osteomalacia. Case report. In a 29 - year-old female patient, with bilateral nephrolithiasis, the diagnosis of primary Sjögren’s syndrome, tubulo-interstitial nephritis, distal renal tubular acidosis, and hypokalemia were established. She was treated for hypokalemia. Two years later she developed bone pains and muscle weakness, she wasn’t able to walk, her proximal muscles and pelvic bones were painful, with radiological signs of pelvic bones osteopenia and pubic bones fractures. The diagnosis of osteomalacia was established and the treatment started with Schol’s solution, vitamin D and calcium. In the following two months, acidosis was corrected, and the patient started walking. Conclusion. In our patient with primary Sjögren’s syndrome and interstitial nephritis, osteomalacia was a result of the long time decompensate acidosis, so the correction of acidosis, and the supplementation of vitamin D and calcium were the integral part of the therapy.

Successful treatment of myelodysplastic syndrome-induced pyoderma gangrenosum.

Science.gov (United States)

Koca, E; Duman, A E; Cetiner, D; Buyukasik, Y; Haznedaroglu, I C; Uner, A; Demirhan, B; Kerimoglu, U; Barista, I; Calguneri, M; Ozcebe, O I

2006-12-01

We report successful treatment of a refractory myelodysplastic syndrome-associated pyoderma gangrenosum with the combination of thalidomide and interferon-alpha2a in a single patient. A non-healing wound developed on a 40-year-old woman's left thumb after minor trauma. Massive ulcerovegetative lesions developed after reconstruction surgery. Histopathological examination of the bone marrow and cytogenetic studies revealed an atypical myeloproliferative/myelodysplastic syndrome. The skin lesions resolved dramatically after two months of thalidomide and interferon-alpha2a combination therapy and the haematological status improved.

Radioprotective action on bone marrow CFU during immobilization of mice

International Nuclear Information System (INIS)

Keizer, H.J.; van Putten, L.M.

1976-01-01

Anesthesia and restraint without anesthesia during whole-body x-irradiation decrease the mortality from both the bone marrow and the intestinal syndromes (30- and 5-day mortality). The two types of immobilization decrease the radiosensitivity of the hemopoietic stem cells, as shown by an increased survival of hemopoietic stem cells in the marrow of immobilized mice. The hypoxic cell radiosensitizer Ro-07-0582 reversed the radioprotective effect during restraint without anesthesia, but not during pentobarbital anesthesia. This indicates that hypoxia of the femur bone marrow cannot explain the decreased radiosensitivity of the stem cells during pentobarbital anesthesia. Pentobarbital was also shown to inhibit the recruitment of resting femur bone marrow stem cells (G 0 -phase cells) into cycle following a sublethal dose of x rays. The relevance of these observations is discussed

Acute irradiation syndrome : radiation disease

International Nuclear Information System (INIS)

Mestries, J.C.; Multon, E.

1995-01-01

It is classically assumed that the symptomatology of the acute radiation syndrome is mainly due to stem and progenitor cells death in compartimentalized tissues, particularly in bone marrow and intestine. Our observations on baboons, irradiated with a mixed neutron/gamma or a gamma radiation, showed that the whole organism response plays a major role. There is an inflammatory syndrome, not only during the prodromal phase, but also a second one, that precedes and accompanies the manifest-illness phase. This inflammatory syndrome was associated with coagulation disorders which are largely responsible for bleeding. This syndrome makes the therapeutic approach more complicated since some cytokines, which could be able to improve the hematopoietic cells recovery (e.g. IL-6), exhibit pro-inflammatory activities as well. Regarding radiobiological triage, no biological marker has a prognosis value during the first days following a radiation exposure, for those individuals exposed to around a LD50. On the contrary, some inflammation markers allow to anticipate a fatal issue, without any treatment, as early as the beginning of the manifest-illness phase. (authors). 10 refs., 11 figs

Severe Klippel-Feil syndrome with Mondini malformation of inner ear

OpenAIRE

Alaqeel, Aqeel Abdullah

2014-01-01

Klippel-Feil syndrome is defined as the fusion of cervical vertebra with associated congenital anomalies but was rarely reported to be associated with Mondini Malformation. We report a newborn girl with severe neck extension, computed tomography (CT) of the neck after birth showed fusion of the fifth, sixth, and seventh cervical vertebrae, compatible with Klippel-Feil Syndrome and CT temporal bone showed choclear dysplasia with incomplete number of turns that is compatible with Mondini Malfor...

Severe Klippel-Feil syndrome with Mondini malformation of inner ear.

Science.gov (United States)

Alaqeel, Aqeel Abdullah

2014-01-01

Klippel-Feil syndrome is defined as the fusion of cervical vertebra with associated congenital anomalies but was rarely reported to be associated with Mondini Malformation. We report a newborn girl with severe neck extension, computed tomography (CT) of the neck after birth showed fusion of the fifth, sixth, and seventh cervical vertebrae, compatible with Klippel-Feil Syndrome and CT temporal bone showed choclear dysplasia with incomplete number of turns that is compatible with Mondini Malformation.

Immunodeficiency syndrome in a 3-year-old llama.

OpenAIRE

Sivasankar, M

1999-01-01

An adult, castrated male llama was presented for evaluation of a chronic respiratory problem. Complete blood analyses indicated a leukopenia and hypoproteinemia. Radial immunodiffusion, bone marrow core, and lymph node biopsies supported a tentative diagnosis of juvenile llama immunodeficiency syndrome. This diagnosis was confirmed by postmortem findings.

Chédiak–Higashi syndrome

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Javad Ghaffari

2013-05-01

Full Text Available Chédiak-Higashi syndrome is a rare autosomal recessive congenital immunodeficiency mainly characterized by a condition called oculo-cutaneous albinism. The affected subjects have light-colored hair, vision problems, blood clotting (coagulation abnormalities and in adulthood varying neurologic disorders. Recurrent infections, particularly viral infection with other disorders in childhood are usually life threatening. It has demonstrated mutations throughout the CHS1/LYST gene. The nature of the mutation can be a predictor of the severity of the disease. The current therapeutic options are: Antibiotics, chemotherapy and bone marrow transplantation. This review will discuss the clinical and molecular aspects of this syndrome for better understanding of the factors that may cause abnormalities.

Neonatal Death Dwarfism in a Girl with Distinctive Bone Dysplasia Compatible with Grebe Chondrodysplasia: Analysis by CT Scan-based Phenotype.

Science.gov (United States)

Al Kaissi, Ali; Chehida, Farid Ben; Ganger, Rudolf; Grill, Franz

2014-01-01

We report on a female fetus noted to have severe malformative type of skeletal dysplasia on ultrasonography done at 35 weeks gestation. The girl died shortly after birth. Clinical examination showed a fetus with severe dwarfism, extensive long and short bones, and bone deficiencies associated with multiple dislocations. Computed tomography (CT) scan-based phenotype showed a complex constellation of malformations consistent with the diagnosis of Grebe syndrome. Parents being first cousins (consanguineous marriage) strongly suggests autosomal recessive pattern of inheritance. To our knowledge, this is the first report of neonatal death dwarfism of Grebe syndrome analyzed by CT scan-based phenotype.

Klippel–Trénaunay Syndrome – A Very Rare and Interesting Syndrome

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Deepak Sharma

2015-01-01

Full Text Available Klippel–Trénaunay syndrome (KTS or KT is an infrequently seen dermatological syndrome, which is often viewed as a triad of vascular malformation (capillary malformations or port-wine brands, venous varicosity, and soft tissue and/or bony hypertrophy. We report a case of a 12-year-old male who presented to us with the symptoms of varicose plaques over both lower limbs and was diagnosed as a case of KTS. Management is normally conservative and includes stockings for compression of the branches to reduce edema because of chronic venous insufficiency; modern devices that cause on and off pneumatic compression; and rarely, surgical correction of varicose veins with lifelong follow-up. The orthopedic abnormalities are treated with epiphysiodesis in order to prevent (stop overgrowing of limb and correction of bone deformity.

Trichorhinophalangeal syndrome II, expanding the clinical spectrum

African Journals Online (AJOL)

Rabah M. Shawky

2014-06-17

Jun 17, 2014 ... an autosomal dominant fashion, most cases of TRPS II are sporadic [1]. TRPS III, is a form of brachydactyly due to short metacarpals and severe .... and broad on both sides (black asterisk), the fifth metacarpal bone has similar yet less pronounced appearance (white asterisk). Langer–Giedion syndrome. 91 ...

Fat embolism syndrome: a review of the literature | Mustapha ...

African Journals Online (AJOL)

Fat embolism syndrome is a serious manifestation of fat embolism phenomenon characterized clinically by triad of dyspnoea, petechiae and mental confusion and usually follows long bone fractures. Its classic presentation consists of an asymptomatic interval followed by pulmonary and neurologic manifestations combined ...

Synovis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome: A case of spine, pelvis, and anterior chest wall involvement, with overlooked plantar pustulosis

International Nuclear Information System (INIS)

Kim, Hyun Soo; Jeong, Soh Yong; Lee, Sujin; Baek, In Woon; Park, Jeongmi

2017-01-01

Synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome is an inflammatory clinical condition with aseptic bone lesions and characteristic skin manifestations. A 63-year-old woman presented with vague musculoskeletal symptoms including chronic buttock pain. The clinical work-up revealed multiple spine and osteoarticular involvement. Multilevel bone marrow edema and cortical erosions involving the spine, asymmetric sacroiliitis, and osteosclerosis of the sternoclavicular joint were consistent with a diagnosis of SAPHO syndrome. Considering SAPHO syndrome in the differential diagnosis, subsequent skin inspection revealed plantar pustulosis. Despite the unique feature of accompanying skin and skeletal lesions, skin lesions could be overlooked if not suspected

Synovis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome: A case of spine, pelvis, and anterior chest wall involvement, with overlooked plantar pustulosis

Energy Technology Data Exchange (ETDEWEB)

Kim, Hyun Soo; Jeong, Soh Yong; Lee, Sujin; Baek, In Woon; Park, Jeongmi [Yeouido St. Mary' s Hospital, College of Medicine, The Catholic University of Korea, Seoul (Korea, Republic of)

2017-05-15

Synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome is an inflammatory clinical condition with aseptic bone lesions and characteristic skin manifestations. A 63-year-old woman presented with vague musculoskeletal symptoms including chronic buttock pain. The clinical work-up revealed multiple spine and osteoarticular involvement. Multilevel bone marrow edema and cortical erosions involving the spine, asymmetric sacroiliitis, and osteosclerosis of the sternoclavicular joint were consistent with a diagnosis of SAPHO syndrome. Considering SAPHO syndrome in the differential diagnosis, subsequent skin inspection revealed plantar pustulosis. Despite the unique feature of accompanying skin and skeletal lesions, skin lesions could be overlooked if not suspected.

[Bone ultrasonography in kidney disease: applications and limitations].

Science.gov (United States)

Aucella, Filippo; Gesuete, Antonio; Cicchella, Antonio; Granata, Antonio; Fiorini, Fulvio; Guglielmi, Giuseppe

2012-01-01

Quantitative ultrasound (QUS) of the bone is a technique that is generating great interest among bone structure researchers because of its intrinsic features. Its safety and low cost make it an ideal technique for repeated measurements over time such as in chronic disease or when it is necessary to monitor the effects of prescribed therapies. The method was developed for the study of osteoporosis and the sites of measurement are all peripheral, including the distal diaphyses and metaphyses of the phalanges, calcaneus, radius and tibia. QUS parameters, however, cannot be used directly for the diagnosis of osteoporosis according to the WHO criteria, although many authors have shown that ultrasound parameters, particularly those of calcaneal QUS, can predict the risk of osteoporotic fractures independently of MBD. Very promising results with the use of QUS have been obtained in corticosteroid-induced osteoporosis, rheumatoid arthritis, Cushing's syndrome, cystic fibrosis, osteomalacia, thalassemia and osteopenia related to parenteral nutrition. QUS can also monitor the effectiveness of therapy in various pathological conditions. In nephrology the combined use of phalangeal QUS and biochemical markers of bone turnover allows adequate follow-up of patients on dialysis and renal transplant recipients with alterations or disorders of the bone.

Effect of bone-soft tissue friction on ultrasound axial shear strain elastography.

Science.gov (United States)

Tang, Songyuan; Chaudhry, Anuj; Kim, Namhee; Reddy, J N; Righetti, Raffaella

2017-07-12

Bone-soft tissue friction is an important factor affecting several musculoskeletal disorders, frictional syndromes and the ability of a bone fracture to heal. However, this parameter is difficult to determine using non-invasive imaging modalities, especially in clinical settings. Ultrasound axial shear strain elastography is a non-invasive imaging modality that has been used in the recent past to estimate the bonding between different tissue layers. As most elastography methods, axial shear strain elastography is primarily used in soft tissues. More recently, this technique has been proposed to assess the bone-soft tissue interface. In this paper, we investigate the effect of a variation in bone-soft tissue friction coefficient in the resulting axial shear strain elastograms. Finite element poroelastic models of bone specimens exhibiting different bone-soft tissue friction coefficients were created and mechanically analyzed. These models were then imported to an ultrasound elastography simulation module to assess the presence of axial shear strain patterns. In vitro experiments were performed to corroborate selected simulation results. The results of this study show that the normalized axial shear strain estimated at the bone-soft tissue interface is statistically correlated to the bone-soft tissue coefficient of friction. This information may prove useful to better interpret ultrasound elastography results obtained in bone-related applications and, possibly, monitor bone healing.

Fat embolism syndrome in long bone trauma following vehicular accidents: Experience from a tertiary care hospital in north India

Directory of Open Access Journals (Sweden)

Parvaiz A Koul

2013-01-01

Full Text Available Background: Fat embolism syndrome (FES is a clinical problem arising mainly due to fractures particularly of long bones and pelvis. Not much literature is available about FES from the Indian subcontinent. Materials and Methods: Thirty-five patients referred/admitted prospectively over a 3-year period for suspected FES to a north Indian tertiary care center and satisfying the clinical criteria proposed by Gurd and Wilson, and Schonfeld were included in the study. Clinical features, risk factors, complications, response to treatment and any sequelae were recorded. Results: The patients (all male presented with acute onset breathlessness, 36-120 hours following major bone trauma due to vehicular accidents. Associated features included features of cerebral dysfunction ( n = 24, 69%, petechial rash (14%, tachycardia (94% and fever (46%. Hypoxemia was demonstrable in 80% cases, thrombocytopenia in 91%, anemia in 94% and hypoalbuminemia in 59%. Bilateral alveolar infiltrates were seen on chest radiography in 28 patients and there was evidence of bilateral ground glass appearance in 5 patients on CT. Eleven patients required ventilatory assistance whereas others were treated with supportive management. Three patients expired due to associated sepsis and respiratory failure, whereas others recovered with a mean hospital stay of 9 days. No long term sequelae were observed. Conclusion: FES remains a clinical challenge and is a diagnosis of exclusion based only on clinical grounds because of the absence of any specific laboratory test. A high index of suspicion is required for diagnosis and initiating supportive management in patients with traumatic fractures, especially in those having undergone an invasive orthopedic procedure.

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

Etiologic factors in the development of medial tibial stress syndrome: a review of the literature.

Science.gov (United States)

Tweed, Jo L; Avil, Steven J; Campbell, Jackie A; Barnes, Mike R

2008-01-01

Medial tibial stress syndrome is a type of exercise-induced leg pain that is common in recreational and competitive athletes. Although various studies have attempted to find the exact pathogenesis of this common condition, it remains unknown. Various theories in literature from 1976 to 2006 were reviewed using key words. Until recently, inflammation of the periosteum due to excessive traction was thought to be the most likely cause of medial tibial stress syndrome. This periostitis has been hypothesized by some authors to be caused by the tearing away of the muscle fibers at the muscle-bone interface, although there are several suggestions as to which, if any, muscle is responsible. Recent studies have supported the view that medial tibial stress syndrome is not an inflammatory process of the periosteum but instead a stress reaction of bone that has become painful.

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.

Delivery of Bone Marrow-Derived Mesenchymal Stem Cells Improves Tear Production in a Mouse Model of Sjögren’s Syndrome

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Hema S. Aluri

2017-01-01

Full Text Available The purpose of the present study was to test the potential of mouse bone marrow-derived mesenchymal stem cells (BD-MSCs in improving tear production in a mouse model of Sjögren’s syndrome dry eye and to investigate the underlying mechanisms involved. NOD mice (n=20 were randomized to receive i.p. injection of sterile phosphate buffered saline (PBS, control or murine BD-MSCs (1 × 106 cells. Tears production was measured at baseline and once a week after treatment using phenol red impregnated threads. Cathepsin S activity in the tears was measured at the end of treatment. After 4 weeks, animals were sacrificed and the lacrimal glands were excised and processed for histopathology, immunohistochemistry, and RNA analysis. Following BD-MSC injection, tears production increased over time when compared to both baseline and PBS injected mice. Although the number of lymphocytic foci in the lacrimal glands of treated animals did not change, the size of the foci decreased by 40.5% when compared to control animals. The mRNA level of the water channel aquaporin 5 was significantly increased following delivery of BD-MSCs. We conclude that treatment with BD-MSCs increases tear production in the NOD mouse model of Sjögren’s syndrome. This is likely due to decreased inflammation and increased expression of aquaporin 5.

The management of thoracic inlet syndrome associated with Hurler's syndrome: a novel surgical technique.

LENUS (Irish Health Repository)

Ahsan, Rauf M

2012-02-01

A 21-year-old male developed significant swelling of his tongue after a respiratory arrest. The patient had a history of Hurler\\'s syndrome. Magnetic resonance imaging (MRI) angiogram delineated that the swelling was due to compression of his internal jugular veins at the level of the first rib, resulting in thoracic inlet obstruction. The standard surgical treatment of thoracic inlet obstruction was not suitable in this patient\\'s case due to his short thick neck and his characteristic Hurler\\'s syndrome body habitus. Therefore, a novel surgical strategy was used to decompress his head and neck vessels. The manubrium was widened using an iliac crest bone graft, stabilised using internal fixation plates and reconstructed with a pectoral muscle flap.

CT-Scans of Cochlear Implant Patients with Characteristics of Pendred Syndrome

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Sebastian Roesch

2013-12-01

Full Text Available Background: Sensorineural hearing loss (SNHL in newborns is estimated with an incidence around 1:10,000 per year and is divided into syndromic and non-syndromic forms. In case of present retrocochlear function‚ cochlear implantation allows speech and cognitive development in affected children, comparable to that of normal hearing children. Pathogenesis of SNHL remains unclear in many cases. Imaging of the temporal bone, such as computed tomography (CT and magnetic resonance imaging (MRI, can reveal conspicuous findings, e.g. enlarged vestibular aqueduct (EVA and Mondini malformation (MM of the cochlea. These malformations can be a clinical sign for Pendred syndrome. Methods: We screened CT scans of 75 cochlear implant patients for EVA and MM. Results: Six patients were observed to have either EVA alone (n=3, or MM alone (n=2, or a combination of both (n=1. Further malformations of the temporal bone could be found within the whole group, as well. Conclusion: Our results confirm the general opinion on EVA and MM, being commonly found in patients with SNHL. A possible association with Pendred syndrome needs to be confirmed by genetic investigations with search for mutations in the SLC26A4 gene and further clinical tests, such as Perchlorate test for surveillance of thyroid function.

Bone marker gene expression in calvarial bones: different bone microenvironments.

Science.gov (United States)

Al-Amer, Osama

2017-12-01

In calvarial mice, mesenchymal stem cells (MSCs) differentiate into osteoprogenitor cells and then differentiate into osteoblasts that differentiate into osteocytes, which become embedded within the bone matrix. In this case, the cells participating in bone formation include MSCs, osteoprogenitor cells, osteoblasts and osteocytes. The calvariae of C57BL/KaLwRijHsD mice consist of the following five bones: two frontal bones, two parietal bones and one interparietal bone. This study aimed to analyse some bone marker genes and bone related genes to determine whether these calvarial bones have different bone microenvironments. C57BL/KaLwRijHsD calvariae were carefully excised from five male mice that were 4-6 weeks of age. Frontal, parietal, and interparietal bones were dissected to determine the bone microenvironment in calvariae. Haematoxylin and eosin staining was used to determine the morphology of different calvarial bones under microscopy. TaqMan was used to analyse the relative expression of Runx2, OC, OSX, RANK, RANKL, OPG, N-cadherin, E-cadherin, FGF2 and FGFR1 genes in different parts of the calvariae. Histological analysis demonstrated different bone marrow (BM) areas between the different parts of the calvariae. The data show that parietal bones have the smallest BM area compared to frontal and interparietal bones. TaqMan data show a significant increase in the expression level of Runx2, OC, OSX, RANKL, OPG, FGF2 and FGFR1 genes in the parietal bones compared with the frontal and interparietal bones of calvariae. This study provides evidence that different calvarial bones, frontal, parietal and interparietal, contain different bone microenvironments.

Neonatal bone marrow transplantation prevents bone pathology in a mouse model of mucopolysaccharidosis type I.

Science.gov (United States)

Pievani, Alice; Azario, Isabella; Antolini, Laura; Shimada, Tsutomu; Patel, Pravin; Remoli, Cristina; Rambaldi, Benedetta; Valsecchi, Maria Grazia; Riminucci, Mara; Biondi, Andrea; Tomatsu, Shunji; Serafini, Marta

2015-03-05

Neonatal bone marrow transplantation (BMT) could offer a novel therapeutic opportunity for genetic disorders by providing sustainable levels of the missing protein at birth, thus preventing tissue damage. We tested this concept in mucopolysaccharidosis type I (MPS IH; Hurler syndrome), a lysosomal storage disorder caused by deficiency of α-l-iduronidase. MPS IH is characterized by a broad spectrum of clinical manifestations, including severe progressive skeletal abnormalities. Although BMT increases the life span of patients with MPS IH, musculoskeletal manifestations are only minimally responsive if the timing of BMT delays, suggesting already irreversible bone damage. In this study, we tested the hypothesis that transplanting normal BM into newborn MPS I mice soon after birth can prevent skeletal dysplasia. We observed that neonatal BMT was effective at restoring α-l-iduronidase activity and clearing elevated glycosaminoglycans in blood and multiple organs. At 37 weeks of age, we observed an almost complete normalization of all bone tissue parameters, using radiographic, microcomputed tomography, biochemical, and histological analyses. Overall, the magnitude of improvements correlated with the extent of hematopoietic engraftment. We conclude that BMT at a very early stage in life markedly reduces signs and symptoms of MPS I before they appear. © 2015 by The American Society of Hematology.

Phenotype in 18 Danish subjects with genetically verified CHARGE syndrome

DEFF Research Database (Denmark)

Husu, E; Hove, Hd; Farholt, Stense

2013-01-01

problems (12/15) were other frequent cranial nerve dysfunctions. Three-dimensional reconstructions of MRI scans showed temporal bone abnormalities in >85%. CHARGE syndrome present a broad phenotypic spectrum, although some clinical features are more frequently occurring than others. Here, we suggest...

[Turner syndrome and genetic polymorphism: a systematic review].

Science.gov (United States)

Trovó de Marqui, Alessandra Bernadete

2015-01-01

To present the main results of the literature on genetic polymorphisms in Turner Syndrome and their association with the clinical signs and the etiology of this chromosomal disorder. The review was conducted in the PubMed database without any time limit, using the terms Turner syndrome and genetic polymorphism. A total of 116 articles were found, and based on the established inclusion and exclusion criteria 17 were selected for the review. The polymorphisms investigated in patients with Turner Syndrome were associated with growth deficit, causing short stature, low bone mineral density, autoimmunity and cardiac abnormalities, which are frequently found in patients with Turner Syndrome. The role of single nucleotide polymorphisms (SNPs) in the etiology of Turner syndrome, i.e., in chromosomal nondisjunction, was also confirmed. Genetic polymorphisms appear to be associated with Turner Syndrome. However, in view of the small number of published studies and their contradictory findings, further studies in different populations are needed in order to clarify the role of genetic variants in the clinical signs and etiology of the Turner Syndrome. Copyright © 2015 Sociedade de Pediatria de São Paulo. Publicado por Elsevier Editora Ltda. All rights reserved.

[Sheng's acupuncture manipulation at bone-nearby acupoints and the academic thoughts].

Science.gov (United States)

Sheng, Ji-li; Jin, Xiao-qing

2014-11-01

Sheng's acupuncture manipulation at bone-nearby acupoints is a set of needling manipulation of the chief physician of TCM, SHENG Xie-sun, summarized through his over 50 years clinical experiences and on the basis of Internal Classic. Regarding this manipulation, on the premise of acupoint selection based on syndrome differentiation, the acupoints close to bone are possibly selected and punctured, with the needle tip toward bone edge, and followed by the technique to achieve reducing purpose. Clinically, the significant immediate analgesia can be achieved in pain disorders such as headache and toothache. Professor Sheng thought, corresponding to the location of needle insertion and needling depth, the tissue layers of needle tip passing through should be considered specially. The site of needle insertion should be changeable so as to ensure the needle tip reaching the bone. This manipulation for analgesia provides a certain guide for acupuncture study, especially for the mechanism study on acupuncture analgesia.

The relationships of irisin with bone mineral density and body composition in PCOS patients.

Science.gov (United States)

Gao, Shanshan; Cheng, Yan; Zhao, Lingling; Chen, Yuxin; Liu, Yu

2016-05-01

Our study aims to assay the irisin level and investigate the relationships of irisin level with body mass index (BMI), body composition and bone metabolism in the polycystic ovary syndrome (PCOS) and control women. Fifty two PCOS and 39 control women were recruited. Serum sex hormone, fasting insulin and C-peptide were tested. Fasting serum irisin and adiponectin were measured with enzyme-linked immunosorbent assay. Body composition and bone mineral density were assayed by dual energy X-ray absorptiometry. Polycystic ovary syndrome women showed different body compositions compared with controls. Serum irisin level of PCOS did not show significant difference compared with controls although it was decreased. The level of adiponectin in PCOS patients was significantly reduced. BMI had no correlation with irisin level. It indicated a positive correlation between serum irisin levels and bone mineral density in the control group and a negative correlation in the PCOS group after BMI and age adjusted. Furthermore, total lean mass has a significant effect on irisin concentration in the PCOS group. There are no correlations between adiponection and body compositions and bone mineral density in both groups. The abnormal body composition in PCOS may contribute to the circulation irisin. The crosstalk of irisin in different organs was found and may be related to disease development in PCOS. Copyright © 2015 John Wiley & Sons, Ltd.

A unique case of Shwachman-Diamond syndrome presenting with congenital hypopituitarism.

Science.gov (United States)

Jivani, Nurin; Torrado-Jule, Carmen; Vaiselbuh, Sarah; Romanos-Sirakis, Eleny

2016-11-01

Shwachman-Diamond syndrome (SDS) is an autosomal recessive bone marrow failure syndrome typically characterized by neutropenia and pancreatic dysfunction, although phenotypic presentations vary, and the endocrine phenotype is not well-described. We report a unique case of a patient with SDS who initially presented with hypoglycemia and micropenis in the newborn period and was diagnosed with congenital hypopituitarism. We are not aware of any other cases of SDS documented with this combination of complex endocrinopathies.

Disease-specific hematopoietic stem cell transplantation in children with inherited bone marrow failure syndromes.

Science.gov (United States)

Li, Qian; Luo, Changying; Luo, Chengjuan; Wang, Jianmin; Li, Benshang; Ding, Lixia; Chen, Jing

2017-08-01

Hematopoietic stem cell transplantation (HSCT) using an optimized conditioning regimen is essential for the long-term survival of patients with inherited bone marrow failure syndromes (IBMFS). We report HSCT in 24 children with Fanconi anemia (FA, n = 12), Diamond-Blackfan anemia (DBA, n = 7), and dyskeratosis congenita (DC, n = 5) from a single HSCT center. The graft source was peripheral blood stem cells (n = 19) or cord blood stem cells (n = 5). FA and DC patients received reduced-intensity conditioning, while DBA patients had myeloablative conditioning. The median numbers of infused mononuclear cells and CD34+ cells were 14.20 × 10 8 /kg and 4.3 × 10 6 /kg, respectively. The median time for neutrophil and platelet recovery was 12 and 18 days, respectively. Complete donor engraftment was achieved in 23 of 24 patients. There was one primary graft failure. During a median follow-up of 27.5 months (range, 2-130 months), the overall survival in all patients was 95.8%. The incidence of grade II-III acute graft versus host disease (GvHD) and chronic GvHD was 29.2% and 16.7%, respectively. We conclude that HSCT can be a curative option for patients with IBMFS. Modification of the conditioning regimen based on the type of disease may lead to encouraging long-term outcomes.

Effect of Massive Blood Transfusion on the Therapeutic Efficiency of Homogenic Bone Marrow in Acute Radiation Illness

Energy Technology Data Exchange (ETDEWEB)

Seraphimov-Dimitrov, V.; Decheva, Z.; Nedyalkova, M. [Institute of Haematology and Blood Transfusion, Sofia (Bulgaria)

1969-07-15

Simultaneously with bone-marrow transplantation, the authors replaced the blood of the lethally irradiated recipient animals with blood from the bone-marrow donor. From experiments on dogs and rabbits it became clear that replacing 86% of the recipient's blood with blood from the bone-marrow donor considerably reduces the therapeutic effect of bone-marrow transplantation. The authors consider that the main cause of the animals' early death in experiments combining bone-marrow transplantation and massive donor blood transfusions is a secondary syndrome resulting from the graft-versus-host reaction. This does not exclude the inverse possibility - that the development of a host-versus-graft reaction is due to the presence of a massive number of antigens of the donor blood in the blood of the recipient. (author)

The acquired hyperostosis syndrome. Pt. 2

International Nuclear Information System (INIS)

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

1988-01-01

In the second part of this publication, we describe some additional findings in cases of sternocostoclavicular hyperostosis (SCCH). These include focal hyperostosis of the spine, in the pelvis and in the extremities and psoriatric skin lesions and severe forms of acne (acne conglobata, acne fulminans). An analysis of our 13 patients and of the relevant literature indicates that the hyperostosis is due to increased bone metabolism and heterotopic ossification of fibrous tissue and that these are the pathogenic bases of the changes in the axial skeleton, the pelvis and the bones of the extremities. We have suggested a scheme which would categorise the syndrom into complete, incomplete and possibly acquired forms. (orig./GDG) [de

Physical growth, puberty and hormones in adolescents with Nodding Syndrome; a pilot study.

Science.gov (United States)

Piloya-Were, Theresa; Odongkara-Mpora, Beatrice; Namusoke, Hanifa; Idro, Richard

2014-11-28

Nodding syndrome is an epidemic symptomatic generalized epilepsy syndrome of unknown cause in Eastern Africa. Some patients have extreme short stature. We hypothesized that growth failure in nodding syndrome is associated with specific endocrine dysfunctions. In this pilot study, we examined the relationship between serum hormone levels and stature, bone age and sexual development. We recruited ten consecutive children, 13 years or older, with World Health Organization defined nodding syndrome and assessed physical growth, bone age, development of secondary sexual characteristics and serum hormone levels. Two children with incomplete results were excluded. Of the eight remaining, two had severe stunting (height for age Z [HAZ] scorebone age was delayed by a median 3(range 0-4) years. Serum growth hormone levels were normal in all eight but the two patients with severe stunting and one with moderate stunting had low levels of Somatomedin C (Insulin like Growth Factor [IGF1]) and/or IGF binding protein 3 (IGFBP3), mediators of growth hormone function. A linear relationship was observed between serum IGF1 level and HAZ score. With the exception of one child, all were either pre-pubertal or in early puberty (Tanner stages 1 and 2) and in the seven, levels of the gonadotrophins (luteinising and follicle stimulating hormone) and the sex hormones (testosterone/oestrogen) were all within pre-pubertal ranges or ranges of early puberty. Thyroid function, prolactin, adrenal, and parathyroid hormone levels were all normal. Patients with nodding syndrome may have dysfunctions in the pituitary growth hormone and pituitary gonadal axes that manifest as stunted growth, delayed bone age and puberty. Studies are required to determine if such endocrine dysfunction is a primary manifestation of the disease or a secondary consequence of chronic ill health and malnutrition and if so, whether targeted interventions can improve outcome.

Enhanced MRI in carpal tunnel syndrome

International Nuclear Information System (INIS)

Hayakawa, Katsuhiko; Nakane, Takashi; Kobayashi, Shigeru; Asai, Takahiro; Wada, Kunio; Yoshizawa, Hidezo

1998-01-01

In this study, we performed contrast-enhanced MRI in patients with idiopathic carpal tunnel syndrome and examined the morphologic change in the carpal tunnel. In the transverse section of the opening of carpal tunnel where scaphoid and pisiform bones are figured out, we measured and examined 4 items, viz. the soft carpal tunnel volume, flat rate of median nerve, position of median nerve and thickness of palmer ligaments composing the base of carpal tunnel, with an image analyzer attached to the MRI apparatus. Whereas the average carpal tunnel volume in 12 hands of normal controls was 166.8 mm 2 , that in 74 hands of carpal tunnel syndrome was 207.2 mm 2 , a significant increase compared with the normal controls. The flat rate of median nerve was 46% in the controls, but that was 37.5% in the carpal tunnel syndrome, a significant flattening was noted. We connected the peaks of the scaphoid node and pisiform bone with a line and named it standard line. When we observed the position of median nerve in the carpal tunnel, the nerve in 9 of 12 hands, 75%, lay below the standard line in the controls, but the nerve in 65 of 74 hands, 87.8%, lay above the standard line in the carpal tunnel syndrome, clearly showing that the median nerve had shifted to the palmar side. Regarding these morphologic changes of the carpal tunnel, the internal pressure of the carpal tunnel is considered to be raised with swelling of the soft tissues mainly composing the inside of carpal tunnel, thus the area of cross section of carpal tunnel to be increased, the median nerve to be shifted to the palmar side and the median nerve to be compressed by the transverse carpal ligament at that time. Although we can observe these morphological changes readily in MRI images, these images show only the results of carpal tunnel syndrome after all, and do not specify the direct causes. However, we believe that these facts are important factors in the manifestation of idiopathic carpal tunnel syndrome. (author)

Neonatal Death Dwarfism in a Girl with Distinctive Bone Dysplasia Compatible with Grebe Chondrodysplasia: Analysis by CT Scan-based Phenotype

Directory of Open Access Journals (Sweden)

Ali Al Kaissi

2014-01-01

Full Text Available We report on a female fetus noted to have severe malformative type of skeletal dysplasia on ultrasonography done at 35 weeks gestation. The girl died shortly after birth. Clinical examination showed a fetus with severe dwarfism, extensive long and short bones, and bone deficiencies associated with multiple dislocations. Computed tomography (CT scan-based phenotype showed a complex constellation of malformations consistent with the diagnosis of Grebe syndrome. Parents being first cousins (consanguineous marriage strongly suggests autosomal recessive pattern of inheritance. To our knowledge, this is the first report of neonatal death dwarfism of Grebe syndrome analyzed by CT scan-based phenotype.

The Relationship between Metabolic Syndrome and Osteoporosis: A Review

Directory of Open Access Journals (Sweden)

Sok Kuan Wong

2016-06-01

Full Text Available Metabolic syndrome (MetS and osteoporosis are two major healthcare problems worldwide. Metabolic syndrome is a constellation of medical conditions consisting of central obesity, hyperglycemia, hypertension, and dyslipidemia, in which each acts on bone tissue in different ways. The growing prevalence of MetS and osteoporosis in the population along with the controversial findings on the relationship between both conditions suggest the importance for further investigation and discussion on this topic. This review aims to assess the available evidence on the effects of each component of MetS on bone metabolism from the conventional to the contemporary. Previous studies suggested that the two conditions shared some common underlying pathways, which include regulation of calcium homeostasis, receptor activator of NF-κB ligand (RANKL/receptor activator of the NF-κB (RANK/osteoprotegerin (OPG and Wnt-β-catenin signaling pathways. In conclusion, we suggest that MetS may have a potential role in developing osteoporosis and more studies are necessary to further prove this hypothesis.

The Relationship between Metabolic Syndrome and Osteoporosis: A Review

Science.gov (United States)

Wong, Sok Kuan; Chin, Kok-Yong; Suhaimi, Farihah Hj; Ahmad, Fairus; Ima-Nirwana, Soelaiman

2016-01-01

Metabolic syndrome (MetS) and osteoporosis are two major healthcare problems worldwide. Metabolic syndrome is a constellation of medical conditions consisting of central obesity, hyperglycemia, hypertension, and dyslipidemia, in which each acts on bone tissue in different ways. The growing prevalence of MetS and osteoporosis in the population along with the controversial findings on the relationship between both conditions suggest the importance for further investigation and discussion on this topic. This review aims to assess the available evidence on the effects of each component of MetS on bone metabolism from the conventional to the contemporary. Previous studies suggested that the two conditions shared some common underlying pathways, which include regulation of calcium homeostasis, receptor activator of NF-κB ligand (RANKL)/receptor activator of the NF-κB (RANK)/osteoprotegerin (OPG) and Wnt-β-catenin signaling pathways. In conclusion, we suggest that MetS may have a potential role in developing osteoporosis and more studies are necessary to further prove this hypothesis. PMID:27338453

Tc-99m-MDP scintigraphy in the evaluation of epidermal nevus syndrome

International Nuclear Information System (INIS)

Barbosa, M.N.S.; Cunha, M.O.; Severiche, A.F.A.; Ramos, C.D.; Etchebehere, E.C.S.C.; Belangero, W.; Camargo, E.E.

1997-01-01

Full text: Epidermal nevus syndrome has been described as a congenital neurocutaneous disorder in which epidermal nevi are associated with malformations of other organs, commonly the skeleton and central nervous system. Ocular, cardiac, and genitourinary system abnormalities, as well as other skin lesions, may also be seen. A 19 year old patient with epidermal nevus syndrome, presenting congenital facial epidermal nevi and bone deformity of the lower limbs (shortening of the left leg, left thigh varum, bilateral genu valgum, and multiple pathological fractures), as referred to the nuclear medicine laboratory to evaluate involvement of other sites of the skeleton. Whole body bone scintigraphy performed with MDP-Tc-99m showed multiple small focal areas of increased uptake in the skeleton, mainly in the upper and lower limbs, posterior ribs, right acetabulum, right sacroiliac joint, and right greater trochanter, interpreted as pathological fractures at different stages of remodeling. The range of skeletal findings in this condition is quite diverse. Many of these findings can be attributed to local tissue overgrowth with deformities and advanced bone age, associate with pathological fractures

Chronic graft versus host disease and nephrotic syndrome

Directory of Open Access Journals (Sweden)

Samia Barbouch

2014-01-01

Full Text Available Disturbed kidney function is a common complication after bone marrow transplantation. Recently, attention has been given to immune-mediated glomerular damage related to graft versus host disease (GVHD. We describe a 19-year-old woman who developed membranous glomerulonephritis after bone marrow transplantation (BMT. Six months later, she developed soft palate, skin and liver lesions considered to be chronic GVHD. Fifteen months after undergoing BMT, this patient presented with nephrotic syndrome. A renal biopsy showed mem-branous glomerulonephritis associated with a focal segmental glomerulosclerosis. She was started on corticosteroid treatment with good outcome.

The acute radiation syndrome in the 137Cs Brazilian accident, 1987

International Nuclear Information System (INIS)

Valverde, N.J.; Cordeiro, J.M.; Oliveira, A.R.; Brandao Mello, C.E.

1989-01-01

Eight patients with the most severe degreed of bone marrow impairment are studied. Case descriptions are limited to manifestations and complications related to the 'Acute Radiation Syndrome' (ARS). Medical facilities, exams and therapeutic management are discussed. (MAC) [pt

Bone scintigraphy in systemic and metabolic diseases

International Nuclear Information System (INIS)

Engels, H.J.; Schmidt, H.A.E.

1984-01-01

Bone scintigraphy is a very sensitive method to identify pathological processes affecting the bone. Its specificity is, however, considerably lower than its sensitivity, particularly in systemic diseases. We therefore investigated the possibilities of differential diagnosis based on typical sites or patterns of distribution. The Paget syndrome with characteristic manifestation in the pelvic region, including crutch-shaped accumulation in the proximal femur, may be diagnosed by scintigraphy alone. If these typical sites are absent, however, differential diagnosis is difficult. Differential diagnosis for multiple myeloma, fibrous dysplasia, enchondromatosis, hyperparathyroidism, osteopathies, osteomalacia, inflammatory rheumatic diseases is also required and should be based on further examinations, taking into consideration the history, clinical signs and course. In this connexion scintigraphy is relevant both for early assessment and documentation of the spread of pathological processes and for the follow-up. (orig.) [de

Histone Deacetylases in Bone Development and Skeletal Disorders

Science.gov (United States)

Bradley, Elizabeth W.; Carpio, Lomeli R.; van Wijnen, Andre J.; McGee-Lawrence, Meghan E.; Westendorf, Jennifer J.

2015-01-01

Histone deacetylases (Hdacs) are conserved enzymes that remove acetyl groups from lysine side chains in histones and other proteins. Eleven of the 18 Hdacs encoded by the human and mouse genomes depend on Zn2+ for enzymatic activity, while the other 7, the sirtuins (Sirts), require NAD2+. Collectively, Hdacs and Sirts regulate numerous cellular and mitochondrial processes including gene transcription, DNA repair, protein stability, cytoskeletal dynamics, and signaling pathways to affect both development and aging. Of clinical relevance, Hdacs inhibitors are United States Food and Drug Administration-approved cancer therapeutics and are candidate therapies for other common diseases including arthritis, diabetes, epilepsy, heart disease, HIV infection, neurodegeneration, and numerous aging-related disorders. Hdacs and Sirts influence skeletal development, maintenance of mineral density and bone strength by affecting intramembranous and endochondral ossification, as well as bone resorption. With few exceptions, inhibition of Hdac or Sirt activity though either loss-of-function mutations or prolonged chemical inhibition has negative and/or toxic effects on skeletal development and bone mineral density. Specifically, Hdac/Sirt suppression causes abnormalities in physiological development such as craniofacial dimorphisms, short stature, and bone fragility that are associated with several human syndromes or diseases. In contrast, activation of Sirts may protect the skeleton from aging and immobilization-related bone loss. This knowledge may prolong healthspan and prevent adverse events caused by epigenetic therapies that are entering the clinical realm at an unprecedented rate. In this review, we summarize the general properties of Hdacs/Sirts and the research that has revealed their essential functions in bone forming cells (e.g., osteoblasts and chondrocytes) and bone resorbing osteoclasts. Finally, we offer predictions on future research in this area and the utility of

Remission of insulin autoimmune syndrome in a patient with Grave's disease by treatment with methimazole.

Science.gov (United States)

Okabe, R; Inaba, M; Hosoi, M; Ishimura, E; Kumeda, Y; Nishizawa, Y; Morii, H

1999-06-01

The patient, a 24-year-old man, had suffered from hunger, sweating, tachycardia and palpitation for three years. He was diagnosed as having Graves' disease (GD) and treated with methimazole (MMI) for 3 months. He noted that palpitation and perspiration seemed to particularly occur when he was hungry, and thus he was examined to determine whether these symptoms were caused by hypoglycemia. As a markedly elevated immunoreactive insulin level and the presence of insulin antibody in serum were found, he was diagnosed as having insulin autoimmune syndrome (IAS). HLA typing revealed the patient to be positive for group Bw62/Cw4/DR4, which is reportedly a specific HLA type in MMI-treated euthyoroid GD patients with IAS. In spite of the continuation of MMI treatment, the % binding of IRI decreased and the hypoglycemic episode disappeared. In contrast to the previously reported MMI induced IAS in GD cases, MMI is unlikely to have exacerbated IAS in the present case, although his HLA combination is identical to that of the previous cases.

Hypophosphatemic osteomalacia and bone sclerosis caused by a novel homozygous mutation of the FAM20C gene in an elderly man with a mild variant of Raine syndrome.

Science.gov (United States)

Takeyari, Shinji; Yamamoto, Takehisa; Kinoshita, Yuka; Fukumoto, Seiji; Glorieux, Francis H; Michigami, Toshimi; Hasegawa, Kosei; Kitaoka, Taichi; Kubota, Takuo; Imanishi, Yasuo; Shimotsuji, Tsunesuke; Ozono, Keiichi

2014-10-01

Hypophosphatemia and increased serum fibroblast growth factor 23 (FGF23) levels have been reported in young brothers with compound heterozygous mutations for the FAM20C gene; however, rickets was not observed in these cases. We report an adult case of Raine syndrome accompanying hypophosphatemic osteomalacia with a homozygous FAM20C mutation (R408W) associated with increased periosteal bone formation in the long bones and an increase in bone mineral density in the femoral neck. The patient, a 61-year-old man, was born from a cousin-to-cousin marriage. A short stature and severe dental demineralization were reported at an elementary school age. Hypophosphatemia was noted inadvertently at 27years old, at which time he started to take an active vitamin D metabolite (alphacalcidol) and phosphate. He also manifested ossification of the posterior longitudinal ligament. On bone biopsy performed at the age of 41years, we found severe osteomalacia surrounding osteocytes, which appeared to be an advanced form of periosteocytic hypomineralized lesions compared to those reported in patients with X-linked hypophosphatemic rickets. Laboratory data at 61years of age revealed markedly increased serum intact-FGF23 levels, which were likely to be the cause of hypophosphatemia and the decreased level of 1,25(OH)2D. We recently identified a homozygous FAM20C mutation, which was R408W, in this patient. When expressed in HEK293 cells, the R408W mutant protein exhibited impaired kinase activity and secretion. Our findings suggest that certain homozygous FAM20C mutations can cause FGF23-related hypophosphatemic osteomalacia and indicate the multiple roles of FAM20C in bone. Copyright © 2014 Elsevier Inc. All rights reserved.

Multiple Hamartoma Syndrome with Characteristic Oral and Cutaneous Manifestations

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Prashanthi Chippagiri

2013-01-01

Full Text Available Aim. To present a case of Cowden's syndrome and emphasize the importance of continued cancer surveillance in these patients. Cowden syndrome is an inherited autosomal dominant trait with incomplete penetrance and a range of expressivity. It is characterized by multiple hamartomas and neoplasms. Mucocutaneous features include trichilemmomas, oral mucosal papillomatosis, acral keratosis, and palmoplantar keratosis. Here, we report a case of Cowdens syndrome of a 30-year-old female patient who came with a complaint of multiple growths in the oral cavity of a three-month duration. On examination, multiple skin-colored, flat-topped papules over her forehead and right malar bone and multiple papillomatous papules involving all the mucosal surfaces intraorally were observed. This syndrome is associated with the development of several types of malignancies, especially breast carcinoma and thyroid carcinoma, which is why early recognition and regular and vigilant surveillance of individuals with the syndrome are important.

Intra-arterial Autologous Bone Marrow Cell Transplantation in a Patient with Upper-extremity Critical Limb Ischemia

International Nuclear Information System (INIS)

Madaric, Juraj; Klepanec, Andrej; Mistrik, Martin; Altaner, Cestmir; Vulev, Ivan

2013-01-01

Induction of therapeutic angiogenesis by autologous bone marrow mononuclear cell transplantation has been identified as a potential new option in patients with advanced lower-limb ischemia. There is little evidence of the benefit of intra-arterial cell application in upper-limb critical ischemia. We describe a patient with upper-extremity critical limb ischemia with digital gangrene resulting from hypothenar hammer syndrome successfully treated by intra-arterial autologous bone marrow mononuclear cell transplantation.

Hypothalamic amenorrhea in young women with underlying polycystic ovary syndrome.

Science.gov (United States)

Sum, Melissa; Warren, Michelle P

2009-12-01

The purpose of this study was to compare the hormonal/clinical profiles and markers of bone health of women with hypothalamic amenorrhea (HA) to women with suspected HA and underlying polycystic ovary syndrome (PCOS). The results indicate that compared to women with HA, women with HA and underlying PCOS exhibit higher body mass index (BMI), bone mineral densities, and incidence of hyperandrogenism, that they may exhibit increased hyperandrogenism and irregular menses with weight gain, and that they remain at similar risk for osteopenia and osteoporosis.

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

Reflex sympathetic dystrophy/complex regional pain syndrome, type 1

African Journals Online (AJOL)

Enrique

with MRI every 3 months and the bone marrow oedema disappeared after 6 months. Introduction ... SA JOURNAL OF RADIOLOGY • August 2004. Reflex sympathetic dystrophy/complex regional pain syndrome, type 1 ... may be either trauma of external origin or iatrogenic, post surgery. In some patients particularly children ...

Complex Regional Pain Syndrome (CRPS Type II After Carpal Tunnel Release Surgery: Case Report

Directory of Open Access Journals (Sweden)

Hakan Tunç

2010-08-01

Full Text Available Summary Complex regional pain syndrome is a chronic syndrome characterised with dystrophic changes and neurovascular disordes of bone and skin of extremities. The most common etiological factors are trauma, ischemic heart disease, cerebral lesions, servical region disorders, infections, and surgical treatments. Carpal tunnel syndrome is the most common compressive neuropaty of the upper extremity. There are various surgical and conservative alternatives in the treatment of carpal tunnel syndrome. Complex regional pain syndrome has been reported as a complication of surgical carpal tunnel release in 2-5% of patients. In this case report clinical characteristics and rehabilitation outcomes of a patient with complex regional pain syndrome after carpal tunnel release surgery is presented. (Osteoporoz Dünyasından 2010;16:41-3

3M Syndrome: A Report of Four Cases in Two Families

OpenAIRE

G?ven, Ayla; Cebeci, Ay?e Nurcan

2011-01-01

3M syndrome is a rare entity characterized by severe growth retardation, dysmorphic features and skeletal changes as its major components. It is differentiated from other types of dwarfism by its clinical features and by the typical slender long bones and foreshortened vertebral bodies that can be visualized radiographically. 3M syndrome has an autosomal recessive mode of inheritance. An early diagnosis is important for genetic counseling. In this report, we present four children (3 males, 1 ...

Secondary Hemophagocytic Syndrome: The Importance of Clinical Suspicion

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Cristina Oliveira

2014-01-01

Full Text Available Hemophagocytic syndrome is a rare and potentially fatal disorder characterized by pathological immune activation associated with a primary familial disorder, genetic mutations, or occurring as a sporadic condition. The latter can be secondary to infections, malignancies, or autoimmune diseases. Clinically, patients present signs of severe inflammation, with unremitting fever, cytopenias, spleen enlargement, phagocytosis of bone marrow elements, hypertriglyceridemia, and hypofibrinogenemia. Increased suspicion is determinant to timely initiate treatment in an attempt to alter the natural history. The authors present three clinical cases of this syndrome, with a brief review of the diagnostic criteria and treatment.

A case report and brief literature review of Klippel-Trénaunay syndrome

Directory of Open Access Journals (Sweden)

Choudhary MG

2012-05-01

Full Text Available Madan Gopal Choudhary, Zia Ul Haq, Ram Narayan Sehra, Chandra Kumar ChaharDepartment of Paediatrics, Sardar Patel Medical College and P.B.M Hospital, Rajasthan, IndiaAbstract: Klippel-Trénaunay syndrome is a rare disorder characterized by the triad of vascular malformations, venous varicosities, and bone and soft-tissue hypertrophy. We present a case of Klippel-Trénaunay syndrome with limb hypertrophy, port-wine stains, angiokeratoma, and venous varicosities in the limbs.Keywords: Klippel-Trénaunay syndrome, sporadic, venous varicosities, port-wine stain, angiokeratoma

Turner Syndrome: Care of the Patient: Birth to Late Adolescence.

Science.gov (United States)

Paolucci, Denise Gruccio; Bamba, Vaneeta

2017-06-01

Turner syndrome (TS) is a genetic condition occurring in females resulting from the loss of part or all of one of the X chromosomes. The two hallmark features of Turner syndrome include short stature and primary ovarian insufficiency. In addition, Turner syndrome can involve multiple healthcare issues including cardiac and renal anomalies, autoimmune disorders, hearing loss, ophthalmologic issues, bone anomalies, dermatologic issues and psychosocial and educational concerns. The presenting signs of Turner syndrome can vary markedly, leading to delayed or even missed diagnosis. Early identification of TS allows for appropriate screening and surveillance evaluations and more timely treatment intervention. This article will provide an overview of the healthcare issues common to patients with TS, treatments available and the screening and surveillance testing that is recommended. Copyright© of YS Medical Media ltd.

Cerebral gigantism (Sotos syndrome). Compiled data of 22 cases. Analysis of clinical features, growth and plasma somatomedin

NARCIS (Netherlands)

Wit, J. M.; Beemer, F. A.; Barth, P. G.; Oorthuys, J. W.; Dijkstra, P. F.; van den Brande, J. L.; Leschot, N. J.

1985-01-01

An in depth study on growth, bone age, cranial CT scans and plasma somatomedin activity (SM-act) was made of 22 children with Sotos syndrome. In addition to the known characteristics of the syndrome, thin and brittle nails were found in three adolescent patients. The mean body stature, expressed as

Precursor T-cell acute lymphoblastic leukemia presenting with bone marrow necrosis: a case report

Directory of Open Access Journals (Sweden)

Khoshnaw Najmaddin SH

2012-10-01

Full Text Available Abstract Introduction Bone marrow necrosis is a clinicopathological condition diagnosed most often at postmortem examination, but it is also seen during the course of malignancy and is not always associated with a poor prognosis. The morphological features of bone marrow necrosis are disruption of the normal marrow architecture and necrosis of myeloid tissue and medullary stroma. Non-malignant conditions associated with bone marrow necrosis are sickle cell anemia, infections, drugs (sulfasalazine, interferon α, all-trans retinoic acid, granulocyte colony-stimulating factor and fludarabine, disseminated intravascular coagulation, antiphospholipid antibody syndrome and acute graft versus host diseases. The malignant causes are leukemia, lymphoma and metastatic carcinomas. Herein we report the case of a patient with precursor T-cell acute lymphoblastic leukemia and bone marrow necrosis at initial presentation. Case presentation A 10-year-old Kurdish boy was presented with generalized bone pain and fever of 1 month’s duration which was associated with sweating, easy fatigability, nose bleeding, breathlessness and severe weight loss. On examination, we observed pallor, tachypnea, tachycardia, low blood pressure, fever, petechial hemorrhage, ecchymoses, tortuous dilated veins over the chest and upper part of abdomen, multiple small cervical lymph node enlargements, mildly enlarged spleen, palpable liver and gross abdominal distention. Blood analysis revealed pancytopenia and elevated lactate dehydrogenase and erythrocyte sedimentation rate. Imaging results showed mediastinal widening on a planar chest X-ray and diffuse focal infiltration of the axial bone marrow on magnetic resonance imaging of the lumbosacral vertebrae. Bone marrow aspiration and biopsy examination showed extensive bone marrow necrosis. Immunophenotyping analysis of the bone marrow biopsy confirmed T-cell acute lymphoblastic leukemia, as CD3 and terminal deoxynucleotidyl

Defining the phenotype associated with microduplication reciprocal to Sotos syndrome microdeletion

DEFF Research Database (Denmark)

Novara, Francesca; Stanzial, Franco; Rossi, Elena

2014-01-01

NSD1 point mutations, submicroscopic deletions and intragenic deletions are the major cause of Sotos syndrome, characterized by pre-postnatal generalized overgrowth with advanced bone age, learning disability, seizures, distinctive facial phenotype. Reverse clinical phenotype due to 5q35...

Autologous fat graft and bone marrow-derived mesenchymal stem cells assisted fat graft for treatment of Parry-Romberg syndrome.

Science.gov (United States)

Jianhui, Zhao; Chenggang, Yi; Binglun, Lu; Yan, Han; Li, Yang; Xianjie, Ma; Yingjun, Su; Shuzhong, Guo

2014-09-01

Progressive facial hemiatrophy, also called Parry-Romberg syndrome (PRS), is characterized by slowly progressive atrophy of one side of the face and primarily involves the subcutaneous tissue and fat. The restoration of facial contour and symmetry in patients affected by PRS still remains a challenge clinically. Fat graft is a promising treatment but has some shortcomings, such as unpredictability and low rate of graft survival due to partial necrosis. To obviate these disadvantages, fat graft assisted by bone marrow-derived mesenchymal stem cells (BMSCs) was used to treat PRS patients and the outcome was evaluated in comparison with the conventional treatment by autologous fat graft. Autologous fat graft was harvested by tumescent liposuction. Bone marrow-derived mesenchymal stem cells were then isolated by human Lymphocytes Separation Medium through density gradient centrifugation. Twenty-six patients were treated with autologous fat graft only (group A), whereas 10 other patients were treated with BMSC-assisted fat graft (group B). The Coleman technique was applied in all fat graft injections. The follow-up period was 6 to 12 months in this study, In group A, satisfactory outcome judged by symmetrical appearances was obtained with 1 injection in 12 patients, 2 injections in 8 patients, and 3 injections in 4 patients. However, the result of 1 patient was not satisfactory and 1 patient was overcorrected. In group B, 10 patients obtained satisfactory outcomes and almost reached symmetry by 1 injection. No complications (infection, hematoma, or subcutaneous mass) were observed. The results suggest that BMSC-assisted fat graft is effective and safe for soft tissue augmentation and may be superior to conventional lipoinjection. Additional study is necessary to further evaluate the efficacy of this technique.

Ellis-van Creveld syndrome in an Indian child: a case report

Energy Technology Data Exchange (ETDEWEB)

Veena, K.M.; Jagadishchandra, H.; Rao, Prasanna Kumar; Chatra, Laxmikanth [Yenepoya Dental College, Yenepoya University, Mangalore (India)

2011-12-15

Ellis-van Creveld syndrome is a rare congenital genetic disorder having autosomal recessive inheritance. It is a syndrome affecting the Amish population of Pennsylvania in USA with prevalence rate of 1/5,000 live at birth. In non-Amish population, the birth prevalence is 7/1,000,000. The syndrome is characterized by bilateral postaxial polydactyly of the hands, chondrodysplasia of long bones resulting in acromesomelic dwarfism, ectodermal dysplasia affecting nails as well as teeth and congenital heart malformation. There were very rare reports of this syndrome in dentistry. The present case focuses on the striking and constant oral findings of these patients, which are the main diagnostic features of this syndrome. Since the oral manifestations affect the esthetic, speech, and jaw growth of the child, the dentists have an important role to play in proper management of such case.

Ellis-van Creveld syndrome in an Indian child: a case report

International Nuclear Information System (INIS)

Veena, K.M.; Jagadishchandra, H.; Rao, Prasanna Kumar; Chatra, Laxmikanth

2011-01-01

Ellis-van Creveld syndrome is a rare congenital genetic disorder having autosomal recessive inheritance. It is a syndrome affecting the Amish population of Pennsylvania in USA with prevalence rate of 1/5,000 live at birth. In non-Amish population, the birth prevalence is 7/1,000,000. The syndrome is characterized by bilateral postaxial polydactyly of the hands, chondrodysplasia of long bones resulting in acromesomelic dwarfism, ectodermal dysplasia affecting nails as well as teeth and congenital heart malformation. There were very rare reports of this syndrome in dentistry. The present case focuses on the striking and constant oral findings of these patients, which are the main diagnostic features of this syndrome. Since the oral manifestations affect the esthetic, speech, and jaw growth of the child, the dentists have an important role to play in proper management of such case.

Frank-ter Haar syndrome with unusual clinical features.

Science.gov (United States)

Dundar, Munis; Saatci, Cetin; Tasdemir, Sener; Akcakus, Mustafa; Caglayan, Ahmet Okay; Ozkul, Yusuf

2009-01-01

Frank-ter Haar syndrome first recognized by Frank et al. [Y. Frank, M. Ziprkowski, A. Romano, R. Stein, M.B. Katznelson, B. Cohen, R.M. Goodman, Megalocornea associated with multiple skeletal anomalies: a new genetic syndrome?, J. Genet. Hum. 21 (1973) 67-72.] and subsequently confirmed by ter Haar et al. [B. Ter Haar, B. Hamel, J. Hendriks, J. de Jager, Melnick-Needles syndrome: indication for an autosomal recessive form, Am. J. Med. Genet. 13 (1982) 469-477.]. The main clinical features of the syndrome are brachycephaly, wide fontanels, prominent forehead, hypertelorism, prominent eyes, macro cornea with or without glaucoma, full cheeks, small chin, bowing of the long bones, and flexion deformity of the fingers [S.M. Maas, H. Kayserili, J. Lam, M.Y. Apak, R.C. Hennekam, Further delineation of Frank-ter Haar syndrome, Am. J. Med. Genet. 131 (2004) 127-133.]. We report a child with Frank-ter Haar syndrome presenting unusual clinical features. Hypopigmented areas in hair, bilateral adducted thumb, bilateral contractures in elbows and pelvic limb, atrial septal defect have not been described previously in the literature. Our patient also had double-outlet right ventricle.

A case report of Gorlin–Goltz syndrome as a rare hereditary disorder

Science.gov (United States)

Sirous, Mehri; Tayari, Nazila

2011-01-01

Gorlin–Goltz syndrome is an autosomal dominant and a rare hereditary disease. Diagnosis of this syndrome is based on major and minor criteria. We report a Gorlin–Goltz syndrome in a 25-year-old male who was presented with progressive pain of maxilla and mandible over 5 years. The pain was diffuse and compatible with expansile cyst in alveolar ridges on panoramic radiography. In physical examination, he had coarse face and prognathism. Computer tomography of face revealed two expansile maxillary and one mandibular cyst. Calcification of entire length in falx and tentorium were detected in bone window. PMID:22091315

A case report of Gorlin-Goltz syndrome as a rare hereditary disorder.

Science.gov (United States)

Sirous, Mehri; Tayari, Nazila

2011-06-01

Gorlin-Goltz syndrome is an autosomal dominant and a rare hereditary disease. Diagnosis of this syndrome is based on major and minor criteria. We report a Gorlin-Goltz syndrome in a 25-year-old male who was presented with progressive pain of maxilla and mandible over 5 years. The pain was diffuse and compatible with expansile cyst in alveolar ridges on panoramic radiography. In physical examination, he had coarse face and prognathism. Computer tomography of face revealed two expansile maxillary and one mandibular cyst. Calcification of entire length in falx and tentorium were detected in bone window.

A case report of Gorlin-Goltz syndrome as a rare hereditary disorder