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1.
Mod Rheumatol Case Rep ; 8(2): 386-390, 2024 Jul 08.
Article in English | MEDLINE | ID: mdl-38771101

ABSTRACT

Osteogenesis imperfecta (OI) is a heterogeneous disorder characterised by bone fragility. Herein, we report a case of OI diagnosed after subchondral insufficiency fracture (SIF) of bilateral femoral heads. A 37-year-old woman was referred to Saitama Medical University Hospital due to left hip pain without any trauma that lasted for 2 months. She was subsequently diagnosed with SIF of the left femoral head. After 3 months, she further developed SIF of the right hip without any trauma. Magnetic resonance imaging of the bilateral hips showed linear low-signal changes of the subchondral bone and bone marrow oedema of the femoral head on T2-weighted coronal and sagittal images, diagnosing of both SIFs. The bone mineral density was 0.851 g/cm2 (T-score, -1.3) at the lumbar spine, 0.578 g/cm2 (T-score, -1.9) at the right femoral neck, and 0.582 g/cm2 (T-score, -1.9) at the left femoral neck. Considering that the patient had multiple histories of fracture, blue sclera, and mild bilateral sensorineural hearing loss, she satisfied the diagnostic criteria for OI. Genetic testing revealed a mutation in COL1A1 (NM_000088.3, c.3806G>A: p. Trp1269*). After 7 months of conservative therapy, her symptoms improved. After 4 years, both hips were pain-free with no evidence of osteoarthritis progression. OI can result in insufficiency fractures due to bone fragility in adolescence and adulthood or later, and none of the cases of OI, except for the current case, were diagnosed as a result of bilateral SIF.


Subject(s)
Fractures, Stress , Osteogenesis Imperfecta , Humans , Osteogenesis Imperfecta/complications , Osteogenesis Imperfecta/diagnosis , Female , Adult , Fractures, Stress/diagnosis , Fractures, Stress/etiology , Magnetic Resonance Imaging , Femur Head/pathology , Femur Head/injuries , Bone Density , Collagen Type I/genetics , Collagen Type I, alpha 1 Chain , Mutation
3.
Endocr Pract ; 19(4): e97-101, 2013.
Article in English | MEDLINE | ID: mdl-23512396

ABSTRACT

OBJECTIVE: To describe an exceedingly rare case of tumor-induced osteomalacia (TIO) caused by a benign phosphaturic mesenchymal tumor that recurred after two surgical resections at two different medical institutions. METHODS: A 69-year-old man complained of a 3-year history of persistent whole body pain and presented with hypophosphatemia, elevated serum levels of bone-specific alkaline phosphatase and fibroblast growth factor-23 (FGF-23), and multiple fractures. The patient was suspected of having TIO. We conducted the following diagnostic modalities considered useful to detect the tumor: serum FGF-23 level measurement in the extremities, positron emission tomography (PET)-computed tomography (CT),and magnetic resonance imaging (MRI). RESULTS: The causative tumor could be detected in the right humerus not by venous catheterization for serum FGF-23 level measurement but by the combination of PET-CT and MRI. The authors, who had successfully treated two patients with TIO, visually confirmed the absence of any tumor residue during tumorectomy. Nevertheless, the tumor recurred after surgery. The residual tumor could be localized in the right humerus not by PET-CT but by the combination of superficial venous sampling at 10 sites and MRI. The residual tumor recurred after the second tumorectomy at another hospital. This patient indicates that the possibility--a benign causative tumor may not be completely resected by surgery--cannot be ruled out thoroughly. CONCLUSION: Superficial venous sampling at multiple sites may be a surrogate for venous catheterization. Patients with TIO should be meticulously followed-up after surgery to detect any residual tumor by periodic biochemical monitoring and by imaging modalities accordingly.


Subject(s)
Neoplasms, Connective Tissue/diagnosis , Aged , Fibroblast Growth Factor-23 , Fibroblast Growth Factors/blood , Humans , Hypophosphatemia/blood , Magnetic Resonance Imaging , Male , Neoplasms, Connective Tissue/blood , Osteomalacia , Paraneoplastic Syndromes , Positron-Emission Tomography
4.
J Bone Miner Metab ; 30(4): 468-73, 2012 Jul.
Article in English | MEDLINE | ID: mdl-22222419

ABSTRACT

The aim of this study was to determine the effect of increasing estrogen and decreasing androgen in males and increasing androgen and decreasing estrogen in females on bone metabolism in patients with gender identity disorder (GID). We measured and examined bone mineral density (BMD) and bone metabolism markers retrospectively in GID patients who were treated in our hospital. In addition, we studied the effects of treatment on those who had osteoporosis. Patients who underwent a change from male to female (MtF) showed inhibition of bone resorption and increased L2-4 BMD whereas those who underwent a change from female to male (FtM) had increased bone resorption and decreased L2-4 BMD. Six months after administration of risedronate to FtM patients with osteoporosis, L2-4 BMD increased and bone resorption markers decreased. These results indicate that estrogen is an important element with regard to bone metabolism in males.


Subject(s)
Androgen Antagonists/adverse effects , Androgens/adverse effects , Bone and Bones/drug effects , Bone and Bones/metabolism , Estrogen Antagonists/adverse effects , Estrogens/adverse effects , Sex Reassignment Procedures/adverse effects , Adult , Aging , Androgens/blood , Biomarkers/blood , Bone Density/drug effects , Bone Resorption/chemically induced , Bone Resorption/prevention & control , Diphosphonates/therapeutic use , Estrogens/blood , Estrogens/therapeutic use , Female , Humans , Japan , Male , Osteoporosis/chemically induced , Osteoporosis/drug therapy , Osteoporosis/prevention & control , Retrospective Studies , Transsexualism/blood , Transsexualism/complications , Transsexualism/metabolism , Young Adult
5.
Knee ; 18(2): 83-7, 2011 Mar.
Article in English | MEDLINE | ID: mdl-20199864

ABSTRACT

Clinical studies to examine the effect of screw divergence have not been applied to the fixation of hamstring grafts. A few previous reports have addressed the correlations between the loss of pullout strength and divergence on hamstring tendon fixation in biomechanical tests. The purpose of this study was to examine the effect of interference screw divergence on the coronal plane when digital flexor tendons were fixed with an interference screw. Twenty fresh porcine hindlimb specimens were chosen. The grafts were fixed using titanium soft tissue interference screws. The hindlimbs were divided into two groups according to the insertion method of the screw. The screw was placed along the graft parallel to the long axis of the femoral tunnel in 10 specimens (parallel placement group), and the others were placed laterally at a 15° divergent angle from the bone tunnel on the coronal plane (divergence group). The cyclic-loading test was loaded for 1500cycles. Five specimens failed because of a pull-out of the tendon in divergence group. The number of specimens that failed before the completion of cycles in the divergence group was significantly greater than that in the parallel placement group. Although the residual displacement after 1500cycles for the divergence group was greater than that for the parallel placement group, no statistically significant difference was found between the groups. This study suggests that the screw placed laterally at a 15° divergent angle on the coronal plane decreases the fixation strength of the digital flexor tendons fixed with an interference screw.


Subject(s)
Anterior Cruciate Ligament/surgery , Bone Screws , Equipment Failure Analysis , Femur/surgery , Tendons/surgery , Animals , Biomechanical Phenomena , Hindlimb , Muscle, Skeletal , Swine , Tendons/transplantation , Weight-Bearing
6.
Clin Calcium ; 20(3): 380-7, 2010 Mar.
Article in Japanese | MEDLINE | ID: mdl-20190368

ABSTRACT

The aim of this study is that to investigate the influence of the sex hormones of different genders on adjustments for their bone metabolism. we retrospectively investigated changes in bone metabolism in patients with gender identity disorder and Klinefelter's Syndrome. In the patients who had been reassigned from male to female, we observed suppression of bone resorption and increment of BMD, and in the patients who had been reassigned from female to male, we observed acceleration of bone resorption and diminution of BMD. This indicates that estrogen is more important than testosterone for male and female bones and the efficacy of testosterone for female bones does not compensate for a shortage of estrogen. This result may suggest that SERM is also effective for male osteoporosis.


Subject(s)
Bone Density Conservation Agents/therapeutic use , Bone and Bones/metabolism , Disorders of Sex Development/metabolism , Klinefelter Syndrome/metabolism , Osteoporosis/drug therapy , Selective Estrogen Receptor Modulators/therapeutic use , Bone Density , Bone Resorption , Estrogens/physiology , Female , Humans , Male , Osteoporosis/etiology , Retrospective Studies , Testosterone/physiology
7.
Dev Cell ; 14(5): 689-99, 2008 May.
Article in English | MEDLINE | ID: mdl-18477452

ABSTRACT

Hedgehog (Hh)-Patched1 (Ptch1) signaling plays essential roles in various developmental processes, but little is known about its role in postnatal homeostasis. Here, we demonstrate regulation of postnatal bone homeostasis by Hh-Ptch1 signaling. Ptch1-deficient (Ptch1+/-) mice and patients with nevoid basal cell carcinoma syndrome showed high bone mass in adults. In culture, Ptch1+/- cells showed accelerated osteoblast differentiation, enhanced responsiveness to the runt-related transcription factor 2 (Runx2), and reduced generation of the repressor form of Gli3 (Gli3rep). Gli3rep inhibited DNA binding by Runx2 in vitro, suggesting a mechanism that could contribute to the bone phenotypes seen in the Ptch1 heterozygotes. Moreover, systemic administration of the Hh signaling inhibitor cyclopamine decreased bone mass in adult mice. These data provide evidence that Hh-Ptch1 signaling plays a crucial role in postnatal bone homeostasis and point to Hh-Ptch1 signaling as a potential molecular target for the treatment of osteoporosis.


Subject(s)
Bone and Bones/pathology , Haploidy , Kruppel-Like Transcription Factors/metabolism , Nerve Tissue Proteins/metabolism , Receptors, Cell Surface/deficiency , Repressor Proteins/metabolism , Animals , Bone and Bones/diagnostic imaging , Cell Differentiation , Cells, Cultured , Core Binding Factor Alpha 1 Subunit/genetics , Core Binding Factor Alpha 1 Subunit/metabolism , DNA/metabolism , Gene Expression Regulation , Hedgehog Proteins/metabolism , Humans , Kruppel-Like Transcription Factors/genetics , Mice , Nerve Tissue Proteins/genetics , Organ Size , Osteoblasts/metabolism , Osteoblasts/pathology , Patched Receptors , Patched-1 Receptor , Protein Binding , Radiography , Receptors, Cell Surface/genetics , Receptors, Cell Surface/metabolism , Repressor Proteins/genetics , Signal Transduction , Stem Cells/metabolism , Stem Cells/pathology , Transcription, Genetic , Zinc Finger Protein Gli3
8.
Leuk Res ; 26(5): 477-82, 2002 May.
Article in English | MEDLINE | ID: mdl-11916522

ABSTRACT

In this study, we show potent in vitro purging induced by adenosine triphosphate (ATP) for leukemic cells. The treatment of murine L1210 leukemic cells with 2mM of ATP in vitro for 3h was able to reduce the number of leukemic clonogenic cells by about one order of magnitude presumably by changing the permeability of the leukemic cell membrane. Furthermore, the incubation of L1210 cells with ATP (2mM) and low dose 4-hydroperoxycyclophosphamide (4-HC, 2 microg/ml) for 3h resulted in at least a four-log reduction of clonogenic L1210 cells. Only a slight degree of toxicity to pluripotent hematopoietic stem cells (CFU-S) was observed in both treatment protocols. To determine the efficacy of pharmacological purging by ATP, we designed a murine system to mimic the conditions expected in the clinical setting of autologous transplantation using simulated partial remission marrow (SPRM) which was prepared by mixing normal marrow cells and L1210 cells at a ratio of 9:1. After the SPRM cells were incubated in vitro at a concentration of 1 x 10(6)/ml with both ATP (2mM) and low dose 4-HC (2 microg/ml) for 3h, 5 x 10(4) of the cells were then injected into lethally irradiated 9 weeks male BDF1 mice. All the mice given untreated-SPRM died of leukemia by day 27, whereas none of the recipients transplanted treated-grafts had died by day 70, thus suggesting that the combination use of ATP and 4-HC may be a potentially effective way to purge leukemic cells in autologous stem cell transplantation. The mechanism of the selective killing of leukemic cells is assumed that 4-HC is effectively incorporated into leukemic cells by increasing the permeability of the cell membrane by ATP. Taken together, this simple and rapid procedure is able to purge leukemic cells from autologous bone marrow grafts.


Subject(s)
Adenosine Triphosphate/therapeutic use , Bone Marrow Purging/methods , Cyclophosphamide/analogs & derivatives , Cyclophosphamide/therapeutic use , Hematopoietic Stem Cell Transplantation , Leukemia L1210/therapy , Animals , Hematopoietic Stem Cells/drug effects , Male , Mice , Transplantation, Autologous
9.
Rinsho Ketsueki ; 43(12): 1037-44, 2002 Dec.
Article in Japanese | MEDLINE | ID: mdl-12607992

ABSTRACT

Airway hyperreactivity (AHR) was studied with an astograph for 34 sequential hematopoietic stem cell transplantation (HSCT) patients before and after HSCT. The percentage of Dmin positive patients was 25.0% before HSCT and 25.0-57.1% after HSCT, while all normal subjects were negative for Dmin. The mean Dmin of post HSCT patients was 22.7 u in days 501-1000 and 19.3 u after 1001 days, which was significantly lower than the 45.2 u of normal controls. The patients were divided into two groups according to the treatment before HSCT, strongly treated (S, acute leukemia and non-Hodgikin lymphoma) and weakly treated (W, chronic myelogenous leukemia and aplastic anemia) patients. The ratio of Dmin positive patients and mean Dmin in the W group after HSCT (38.9%, 27.8 u), and the S group before and after HSCT (55.6%, 20.5 u and 45.5%, 23.8 u, respectively), were significantly impaired compared with the findings in the normal controls (0%, 45.2 u). The mean sGrs/Grs count was higher in the W group before HSCT than in the other groups (W before and after HSCT, 0.58 and 0.19, respectively; S before and after HSCT, 0.21 and 0.22, respectively). Taken together, AHR was observed in HSCT patients, particularly for patients in the S group. These data indicate that high dose chemo-radiotherapy including conditioning regimen causes AHR. The mechanisms leading to AHR may be infection, inflammation, and remodeling of the airway.


Subject(s)
Hematopoietic Stem Cell Transplantation , Respiratory Hypersensitivity/physiopathology , Adolescent , Adult , Female , Humans , Leukemia/drug therapy , Leukemia/therapy , Lymphoma/drug therapy , Lymphoma/therapy , Male , Middle Aged
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