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Journal of Bone and Mineral Research :... Feb 1999
Review
Topics: Animals; Birds; Bone Marrow Cells; Bone and Bones; Disease Models, Animal; Estrogens; Female; Humans; Male; Mice; Osteogenesis; Osteoporosis, Postmenopausal; Osteosclerosis; Rats; Sex Characteristics
PubMed: 9933471
DOI: 10.1359/jbmr.1999.14.2.187 -
Medicina (Kaunas, Lithuania) Apr 2023: Melorheostosis, also referred to in the literature as Leri's disease, is an unusual mesenchymal dysplasia with the clinical appearance of benign sclerosing bone... (Review)
Review
: Melorheostosis, also referred to in the literature as Leri's disease, is an unusual mesenchymal dysplasia with the clinical appearance of benign sclerosing bone dysplasia; it frequently occurs in late adolescence. Any bone in the skeletal system can be affected by this disease, though the long bones of the lower extremities are the most common, at any age. Melorheostosis has a chronic evolution, and symptoms are usually absent in the early stages. The etiopathogenesis is still unknown, however, numerous theories have been proposed that could explain the appearance of this lesion formation. An association with other benign or malignant bone lesions is also possible, and associations with osteosarcoma, malignant fibrous histiocytoma, or Buschke-Ollendorff syndrome have also been reported. There have also been reported cases of the malignant transformation of a pre-existing melorheostosis lesion into malignant fibrous histiocytoma or osteosarcoma. The diagnosis of melorheostosis can be made only based on radiological images, but, due to its polymorphism, additional imaging investigations are often necessary and sometimes only a biopsy can establish a definite diagnosis. Because there are currently no guidelines for treatment based on scientific evidence, due to the low number of cases diagnosed worldwide, our objective was to highlight the early recognition and specific surgical treatments for better prognosis and outcomes. : We conducted a review of the literature consisting of original papers, case reports, and case series and presented the clinical and paraclinical characteristics of melorheostosis. We aimed to synthesize the treatment methods available in the literature as well as determine possible future directions related to the treatment of melorheostosis. Furthermore, we presented the results of a case of femoral melorheostosis admitted to the orthopedics department of the University Emergency Hospital of Bucharest in a 46-year-old female patient with severe pain in the left thigh and limitation of joint mobility. Following the clinical examination, the patient complained of pain in the middle third of the left thigh in the antero-medial compartment; the pain appeared spontaneously and was aggravated during physical activity. The pain started about two years prior, but the patient experienced complete pain relief after the administration of non-steroidal anti-inflammatory drugs. In the last six months, the patient presented an increase in pain intensity without significant improvement following the administration of non-steroidal anti-inflammatory drugs. The patient's symptoms were mainly determined by the increase in the volume of the tumor and the mass effect on the adjacent tissues, especially on the vessels and the femoral nerve. The CT examination and bone scintigraphy showed a unique lesion in the middle third of the left femur and no oncological changes in the thoracic, abdominal, and pelvic regions; however, at the level of the femoral shaft, there was a localized cortical and pericortical bone lesion formation that surrounded approximately 180 degrees of the femoral shaft (anterior, medial, and lateral). It had a predominantly sclerotic structure but was associated with lytic areas with thickening of the bone cortex and areas of periosteal reaction. The next therapeutic gesture was to perform an incisional biopsy using a lateral approach at the level of the thigh. The histopathological result supported the diagnosis of melorheostosis. Additionally, immunohistochemical tests completed the data obtained after the microscopic examination through the classic histopathological technique The patient was discharged and included in a full medical recovery program for eight weeks in a specialized medical center, during which she also received analgesic treatment in maximum doses, but without improvement regarding her symptoms. Taking into account the chronic evolution of the pain, the complete lack of response to conservative treatment after eight weeks, and the lack of treatment guidelines in the case of melorheostosis, a surgical approach needed to be considered. The surgical option in this case, considering the circumferential location of the lesion at the level of the femoral diaphysis, was a radical resection. The surgical approach consisted of segmental resection to healthy bone tissue and reconstruction of the remaining defect with a modular tumoral prosthesis. At the 45-day postoperative control, the patient no longer complained of pain in the operated-on limb and was mobile with full support without gait difficulties. The follow-up period was one year, and the patient presented complete pain relief and a very good functional outcome. In the case of asymptomatic patients, conservative treatment seems to be a good option with optimal results. However, for benign tumors, it remains unclear whether radical surgery is a viable option. : Melorheostosis remains an incompletely understood disease, given the limited number of cases worldwide, and thus, there is a lack of clinical guidelines regarding specialized treatment.
Topics: Humans; Female; Adolescent; Middle Aged; Melorheostosis; Histiocytoma, Malignant Fibrous; Pain; Osteosarcoma; Anti-Inflammatory Agents
PubMed: 37241101
DOI: 10.3390/medicina59050869 -
Frontiers in Bioscience (Landmark... Jun 2023Osteopetrosis represents a rare genetic disease with a wide range of clinical and genetic heterogeneity, which results from osteoclast failure. Although up to 10 genes...
BACKGROUND
Osteopetrosis represents a rare genetic disease with a wide range of clinical and genetic heterogeneity, which results from osteoclast failure. Although up to 10 genes have been identified to be related with osteopetrosis, the pathogenesis of osteopetrosis remains foggy. Disease-specific induced pluripotent stem cells (iPSCs) and gene-corrected disease specific iPSCs provide a platform to generate attractive disease cell models and isogenic control cellular models respectively. The purpose of this study is to rescue the disease causative mutation in osteopetrosis specific induced pluripotent stem cells and provide isogenic control cellular models.
METHODS
Based on our previously established osteopetrosis-specific iPSCs (ADO2-iPSCs), we repaired the point mutation R286W of the gene in ADO2-iPSCs by the clustered regularly interspaced short palindromic repeats (CRISPR)/CRISPR-associated protein 9 (Cas9) mediated homologous recombination.
RESULTS
The obtained gene corrected ADO2-iPSCs (GC-ADO2-iPSCs) were characterized in terms of hESC-like morphology, a normal karyotype, expression of pluripotency markers, homozygous repaired sequence of gene, and the ability to differentiate into cells of three germ layers.
CONCLUSIONS
We successfully corrected the point mutation R286W of the gene in ADO2-iPSCs. This isogenic iPSC line is an ideal control cell model for deciphering the pathogenesis of osteopetrosis in future studies.
Topics: Humans; Induced Pluripotent Stem Cells; CRISPR-Cas Systems; Osteopetrosis; Mutation; Chloride Channels
PubMed: 37395026
DOI: 10.31083/j.fbl2806131 -
Developmental Medicine and Child... Oct 2009Life expectancy for the 400 000 adults with cerebral palsy (CP) in the USA is increasing. Although there is a perception of increased fractured rate in the adult with... (Review)
Review
Life expectancy for the 400 000 adults with cerebral palsy (CP) in the USA is increasing. Although there is a perception of increased fractured rate in the adult with CP, it has not been well studied. Low bone mineral density is found in more than 50% of adults with a variety of disabilities, including CP. Dual-energy X-ray absorptiometry scanning is commonly used to assess bone mineral density, but is limited by positioning and other artifacts in adults with CP. Novel scanning regions of interest, such as the distal femur, are not yet standardized in adults. Nutritional assessment and physical activity, the basis of most fracture prevention programs, are difficult to do in the adult with CP. A better understanding of the 'muscle-bone unit' physiology and its exploitation may lead to better treatment modifications. Clinical research trials with bisphosphonates (e.g. pamidronate), estrogen, selective estrogen receptor modulators, parathyroid hormone analogs, and growth hormone need to be targeted to the adult with CP. Longitudinal studies of fracture risk factors, genetic research in bone and neuromuscular biology, and the development of treatment surrogates for physical activity are additional areas of needed expertise. This could be facilitated by an adult CP registry and the centralization of clinical research efforts.
Topics: Adult; Bone and Bones; Cerebral Palsy; Humans; Osteopetrosis; Risk Factors
PubMed: 19740209
DOI: 10.1111/j.1469-8749.2009.03432.x -
Dento Maxillo Facial Radiology Dec 2018This report presents two cases of Worth syndrome involving the mandible which were identified as an incidental finding on radiologic evaluation. Both patients were... (Review)
Review
This report presents two cases of Worth syndrome involving the mandible which were identified as an incidental finding on radiologic evaluation. Both patients were females who presented with enlarged mandibles. Radiologic evaluation revealed multiple bilateral mandibular enostoses, widened and thickened inferior cortical border of the mandible, with no other major clinical finding on examination. One of the patients received orthognathic surgery and healed uneventfully with no post-surgical complications. In this report, we reviewed possible differential diagnoses to this syndrome to facilitate identification among general dentists and oral and maxillofacial radiologists.
Topics: Adult; Female; Humans; Hyperostosis, Cortical, Congenital; Incidental Findings; Mandible; Middle Aged; Osteopetrosis; Osteosclerosis
PubMed: 30028190
DOI: 10.1259/dmfr.20180171 -
Medicina Oral, Patologia Oral Y Cirugia... Dec 2009The objective of this study was to investigate the frequency of idiopathic osteosclerosis (IO) and condensing osteitis (CO) in a Turkish patient population, considering...
OBJECTIVES
The objective of this study was to investigate the frequency of idiopathic osteosclerosis (IO) and condensing osteitis (CO) in a Turkish patient population, considering factors such as age and sex of the population, in addition to shape and localization, as well as the dental relationship between IO and CO lesions.
PATIENTS AND METHODS
A retrospective study was performed using panoramic radiographs of 6,154 patients ranging in age from 5 to 69 years old, who had been subjected to dental treatment. Descriptive characteristics of radiopacities, including shape, localization and dental relationship were recorded. The Chi-squared test was used.
RESULTS
A total of 238 radiopacities were detected, which included 185 IO lesions in 150 (2.44 %) subjects (96 female, 54 male and mean age: 26.2), and 53 CO lesions in 50 (0.81 %) subjects (27 female, 23 male and mean age: 32.8). Both IO and CO lesions were found to be higher in number among females, as compared to males. However, this difference was statistically significant for IO lesions only (p<0.001). The frequency of IO lesions was found to be significantly higher in the 3rd and 4th decades of life (20-39 years) than in other decades (p<0.001). On the other hand, the frequency with which the CO lesions were detected was similar in ages ranging between 20-39 and 40-69 years old, and its frequency in these periods was noted to be statistically higher than in the 1st and 2nd decades of life (p<0.01).
CONCLUSION
Our results point to the low IO and CO frequency among the Turkish population. In addition, our findings support the theory that IO lesions are developmental variations of normal bone architecture unrelated to a local stimulant, whereas CO lesions could be considered reactive formations related to teeth with severe caries, restoration or pulpitis.
Topics: Adolescent; Adult; Aged; Child; Child, Preschool; Female; Humans; Male; Middle Aged; Osteitis; Osteosclerosis; Radiography, Panoramic; Retrospective Studies; Turkey; Young Adult
PubMed: 19680185
DOI: 10.4317/medoral.14.e640 -
Acta Veterinaria Scandinavica 1971Fluorotic lesions have been studied in cows and calves of SRB breed on farms belonging to 2 agricultural companies. From the one company (HP) in Dalecarlia 3 calves, 4...
Fluorotic lesions have been studied in cows and calves of SRB breed on farms belonging to 2 agricultural companies. From the one company (HP) in Dalecarlia 3 calves, 4 heifers and 2 cows were examined and from the other (B) in Södermanland 12 bull-calves. The submitted material consisted of a carcase from 1 dead calf and skull, metacarpus and in some cases kidneys from slaughtered animals. The fluorine content of feed and water samples was determined. In material from HP extensive enamel defects and strong wear were found in the deciduous incisors. Fluorotic lesions in calves have not been described previously. One calf had strong osteoporosis and in the rest of the material osteosclerosis and subperiosteal bone apposition was found. In the kidneys some tubular atrophy was found. Kidney lesions have not been observed previously in bovine fluorosis. Dark furrows and enamel defects appeared in the teeth of the heifers and the cows. In the skeleton they had osteosclerosis and in some cases also subperiosteal bone appositions. The fluorine content of the skeleton varied between 500 and 3,100 p.p.m. in bone ash. Water samples contained 0.5–2.0 and the mineral supply 500–630 p.p.m. of fluorine. In material from company B widespread enamel defects, strong wear of the deciduous incisors and deviations and irregular eruption of the permanent incisors were found. In the skeleton osteosclerosis and subperiosteal bone apposition and in the kidneys in 1 case patchy atrophy of the tubules were found. Microscopically the skeleton showed signs of repair. The fluorine content of the skeleton varied between 135 and 300 p.p.m. in the ash. In water samples 1.5–4.0 p.p.m. of fluorine were found. The used mineral supply contained 300–500 p.p.m. of fluorine. The fluorosis in these animals was considered to be caused by a combination of the fluorine of the water and the mineral supplement. Considering the microscopic picture and the low skeletal fluorine level, the lesions in the bull-calves of company B were interpreted as fluorosis being in a process of repair. To this view contributed the fact that the ingested fluorine in these animals was reduced during the fattening period.
Topics: Animals; Body Weight; Cattle; Cattle Diseases; Fluoride Poisoning; Fluorides; Fluorosis, Dental; Gastroenteritis; Osteosclerosis; Sweden; Tooth
PubMed: 5106993
DOI: 10.1186/BF03547751 -
The Indian Journal of Medical Research Nov 2020
Topics: Bone and Bones; Humans; Melorheostosis
PubMed: 35345112
DOI: 10.4103/ijmr.IJMR_1745_19 -
Anales de Pediatria (Barcelona, Spain :... Dec 2014
Topics: Child; Child, Preschool; Female; Humans; Male; Osteopoikilosis; Skin Diseases, Genetic
PubMed: 24857429
DOI: 10.1016/j.anpedi.2014.03.001 -
Anales de Pediatria (Barcelona, Spain :... Oct 2014
Topics: Humans; Infant; Male; Osteopoikilosis; Skin Diseases, Genetic
PubMed: 24378571
DOI: 10.1016/j.anpedi.2013.11.008