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Journal articles on the topic 'Developmental orthopedic disease'

Author: Grafiati
Published: 4 June 2021
Last updated: 14 February 2022

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1

Jackson, Stephen G., and Joe D. Pagan. "Developmental Orthopedic Disease." Journal of Equine Veterinary Science 13, no. 1 (January 1993): 9–10. http://dx.doi.org/10.1016/s0737-0806(07)80006-2.

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2

Demko, Jennifer, and Ron McLaughlin. "Developmental Orthopedic Disease." Veterinary Clinics of North America: Small Animal Practice 35, no. 5 (September 2005): 1111–35. http://dx.doi.org/10.1016/j.cvsm.2005.05.002.

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3

Gabel, Albert. "Metabolic bone disease to developmental orthopedic disease." Journal of Equine Veterinary Science 25, no. 3 (March 2005): 94. http://dx.doi.org/10.1016/j.jevs.2005.02.002.

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4

LaFond, Elizabeth, Gert J. Breur, and Connie C. Austin. "Breed Susceptibility for Developmental Orthopedic Diseases in Dogs." Journal of the American Animal Hospital Association 38, no. 5 (September 1, 2002): 467–77. http://dx.doi.org/10.5326/0380467.

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A large-scale epidemiological study was conducted to determine breeds at risk for 12 developmental orthopedic diseases (DODs). Developmental orthopedic diseases investigated included canine hip dysplasia (CHD); craniomandibular osteopathy (CMO); fragmented coronoid process; hypertrophic osteodystrophy; Legg-Calvé-Perthes disease; osteochondrosis of the medial humeral condyle, caudal humeral head, femoral condyles, and talar trochlear ridges; panosteitis; patella luxation; and ununited anconeal process. Dogs that were diagnosed with any one of the diseases of interest at any of 10 veterinary teaching hospitals participating in the Veterinary Medical Database from 1986 to 1995 were included as cases. Odds ratios and corresponding 95% confidence intervals were calculated to determine risk. Frequency of diagnosis during the 10-year period ranged from 35 cases (CMO) to 10,637 cases (CHD). The number of breeds at increased risk for a disease ranged from one (CMO) to 35 (CHD). Breed susceptibility for a DOD may suggest a genetic component in the disease etiology. The results of this study serve to increase veterinarians’ awareness of breeds susceptible to DODs and may facilitate the control of such diseases by identifying breeds that might benefit from breeding programs or environmental intervention such as dietary modification.
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FASCETTI, ANDREA J. "Food for Thought on Canine Developmental Orthopedic Disease." Veterinary Surgery 35, no. 3 (April 2006): 211–13. http://dx.doi.org/10.1111/j.1532-950x.2006.00138.x.

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6

Kronfeld, David S., Thomas N. Meacham, and Susan Donoghue. "Dietary Aspects of Developmental Orthopedic Disease in Young Horses." Veterinary Clinics of North America: Equine Practice 6, no. 2 (August 1990): 451–65. http://dx.doi.org/10.1016/s0749-0739(17)30551-5.

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7

McIlwraith, C. Wayne. "Developmental orthopedic disease: problems of limbs in young horses." Journal of Equine Veterinary Science 24, no. 11 (November 2004): 475–79. http://dx.doi.org/10.1016/j.jevs.2004.10.004.

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8

Pagan, J. D., and S. G. Jackson. "The incidence of developmental orthopedic disease on a Kentucky Thoroughbred farm." Pferdeheilkunde Equine Medicine 12, no. 3 (1996): 351–54. http://dx.doi.org/10.21836/pem19960342.

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9

Takahashi, Yoko, Parikh Sumit, and Elia Pestana Knight. "CDKL5 Gene-Related Encephalopathy: Pathophysiology, Clinical Presentation, Developmental Prognosis, and Treatment." Journal of Pediatric Epilepsy 07, no. 01 (March 2018): 001–7. http://dx.doi.org/10.1055/s-0038-1641161.

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AbstractThe cyclin-dependent kinase-like 5 gene (CDKL5) plays a crucial role in brain development. Diseases related to mutations in the CDKL5 gene are considered relatively new disorders. Patients with CDKL5-related disease usually present with early-onset refractory epilepsy and severe global developmental delay. Epilepsy is severe and poorly responsive to conventional medical treatment in most of these patients. Other neurological problems include movement disorder, autonomic symptoms, and sleep problems. In addition to neurological problems, patients may have orthopedic and gastrointestinal disease. Arrhythmia and other heart diseases are uncommon, though more information is needed. Management of patients affected with these diseases requires a multidisciplinary team. Seizures in CDKL5-related disease are very refractory, and treatment with antiseizure medications often fails. Some new drugs currently in clinical trials may show benefit. This article reviews the current status of CDKL5 research, highlighting the pathophysiology, clinical presentation, developmental prognosis, and treatment of CDKL5-related diseases, with the goal of increasing disease recognition.
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10

Okoński, Marek, Patrycja Misztal-Okońska, and Grzegorz Kandzierski. "Changes in the focus of clinical paediatric orthopaedics in the period 1980-2021 on the example of the Department of Children’s Orthopaedics and Rehabilitation in Lublin." Chirurgia Narządów Ruchu i Ortopedia Polska 86, no. 2 (June 30, 2020): 50–58. http://dx.doi.org/10.31139/chnriop.2020.86.2.4.

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For 40 years we have been observing clear changes in the interest of pediatric orthopedists. Some malformations and diseases have almost disappeared in pediatric orthopedic departments, such as developmental hip dislocation, multiple congenital clubfoot surgeries, torticollis, varus of the shin, Blounts disease,Volkmann syndrome, shin mower amputations and others described in this article. The reason for this phenomenon is usually the emergence of new diagnostic methods (e.g. hip joint ultrasound), new treatment methods (e.g. botulinum toxin) or new birth techniques or technical progress in agricultural machinery.
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11

Wróblewska, Agnieszka, Adriana Polańska, Aleksandra Dańczak‑Pazdrowska, Ryszard Żaba, Zygmunt Adamski, Teresa Metthews‑Brzozowska, and Joanna Wegner. "Morphea en coup de sabre and hemifacial atrophy in an interdisciplinary approach." Journal of Face Aesthetics 3, no. 2 (December 31, 2020): 97–107. http://dx.doi.org/10.20883/jofa.35.

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The increase in the degree of fluctuation asymmetry is accompanied, among others, by diseases such as morphea en coup de sabre (morphea ECDS) or Parry‑Romberg syndrome (PHA). Patients suffering from them struggle not only with dermatological defects, but also with neurological, rheumatological, orthopedic, ophthalmological and dental symptoms. Morphological and functional disorders and craniofacial deformities related to them often generate psychosocial problems. The complexity of the issues to be solved proves the necessity of undertaking interdisciplinary actions aimed at developing objective diagnostic and therapeutic protocols, restoring (especially in pediatric patients) as close as possible to the correct developmental patterns, inhibiting the active phase of the disease and undertaking effective and aesthetically satisfying measures.
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12

Yuskiv, Nataliya, Katsumi Higaki, and Sylvia Stockler-Ipsiroglu. "Morquio B Disease. Disease Characteristics and Treatment Options of a Distinct GLB1-Related Dysostosis Multiplex." International Journal of Molecular Sciences 21, no. 23 (November 30, 2020): 9121. http://dx.doi.org/10.3390/ijms21239121.

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Morquio B disease (MBD) is an autosomal recessive GLB1-gene-related lysosomal storage disease, presenting with a peculiar type of dysostosis multiplex which is also observed in GALNS-related Morquio A disease. MBD may present as pure skeletal phenotype (pure MBD) or in combination with the neuronopathic manifestations seen in type 2 (juvenile) or type 3 (late onset) GM1 gangliosidosis (MBD plus). The main skeletal features are progressive growth impairment, kyphoscoliosis, coxa/genua valga, joint laxity, platyspondyly and odontoid hypoplasia. The main neuronopathic features are dystonia, ataxia, and intellectual/developmental/speech delay. Spinal cord compression occurs as a complication of spinal dysostosis. Chronic pain is reported, along with mobility issues and challenges with daily living and self-care activities, as the most common health concern. The most commonly reported orthopedic surgeries are hip and knee replacements. Keratan sulphate-derived oligosaccharides are characteristic biomarkers. Residual β-galactosidase activities measured against synthetic substrates do not correlate with the phenotype. W273 L and T500A are the most frequently observed GLB1 variants in MBD, W273L being invariably associated with pure MBD. Cytokines play a role in joint destruction and pain, providing a promising treatment target. In the future, patients may benefit from small molecule therapies, and gene and enzyme replacement therapies, which are currently being developed for GM1 gangliosidosis.
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13

Papadopulos, Konstantinos, Tatjana Tanic, and Vladimir Mitic. "Orthodontic management of facial asymmetry caused by early condilar fracture in a growing patient." Srpski arhiv za celokupno lekarstvo 140, no. 9-10 (2012): 630–36. http://dx.doi.org/10.2298/sarh1210630p.

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Introduction. There are numerous possible causes of facial asymmetry. The facial asymmetry can be summarized and divided into three main categories: congenital, developmental, and acquired, resulting from disease or trauma. The most common cause of acquired facial asymmetry is condylar fracture. One of therapy concepts is the functional orthodontic treatment. Case Outline. The case presented is a 10.4 years old girl whose chief complaint was a progressive facial asymmetry. The patient?s medical history established a facial trauma at the age of 2 years. The treatment plan consisted of functional jaw orthopedic appliance therapy (modification of activator) and fixed appliances on the upper and lower jaw. Conclusion. Timely diagnosis of condylar fracture, which can lead to facial asymmetry, can be managed by comprehensive orthodontic treatment.
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14

Breuer, L. H., and D. Langer. "64 Observations on the effects of selenium and molybdenum in mare diets on developmental orthopedic disease in Trakehner foals—A case study." Journal of Equine Veterinary Science 35, no. 5 (May 2015): 411. http://dx.doi.org/10.1016/j.jevs.2015.03.074.

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15

Potter, Gary D. "Developmental orthopedic diseases (DOD)." Journal of Equine Veterinary Science 13, no. 4 (April 1993): 188. http://dx.doi.org/10.1016/s0737-0806(06)81001-4.

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16

Gjeltema, Jenessa L., Robert A. MacLean, Eli B. Cohen, and Ryan S. De Voe. "Hypertrophic Osteodystrophy in Two Red Wolf (Canis rufus) Pups." Case Reports in Veterinary Medicine 2015 (2015): 1–6. http://dx.doi.org/10.1155/2015/970742.

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A 6-month-old red wolf (Canis rufus) pup presented for evaluation of progressive thoracic and pelvic limb lameness, joint swelling, and decreased body condition. Radiographic evaluation revealed medullary sclerosis centered at the metaphyses of multiple long bones, well-defined irregular periosteal proliferation, and ill-defined lucent zones paralleling the physes, consistent with hypertrophic osteodystrophy (HOD). Biopsies of affected bone revealed medullary fibrosis and new bone formation. The pup improved following treatment with nonsteroidal anti-inflammatories, opioids, and supportive care over the course of 4 weeks. Metaphyseal periosteal bone proliferation persisted until the animal was humanely euthanized several years later for poor quality of life associated with bilateral cranial cruciate ligament rupture. A second red wolf pup of 4.5 months of age presented for evaluation of lethargy, kyphotic posture, and swollen carpal and tarsal joints. Radiographs revealed bilateral medullary sclerosis and smooth periosteal reaction affecting multiple long bones, suggestive of HOD. Further diagnostics were not pursued in this case to confirm the diagnosis, and the clinical signs persisted for 4 weeks. In light of these two case reports, HOD should be recognized as a developmental orthopedic disease in growing red wolves.
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17

Akram, Sumera, and Muhammad Ahmed Khan. "Infantile Blount’s Disease: A case report of 3 years old female of Zhob, Pakistan." Pakistan Journal of Medical and Health Sciences 15, no. 8 (August 26, 2021): 1993–95. http://dx.doi.org/10.53350/pjmhs211581993.

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Background; Blount’s disease is a rare developmental disorder of children which causes progressive bowing of lower limbs. The term “Blount” was named after American orthopedic surgeon “Walter Putnam Blount” who first described this condition. The etiology of Blount’s disease is unknown but believed to be multifactorial. Various predisposing factors have been attributed including obesity, early walking, race, pre-existing varus, increased pressure on growth plate and nutrition. Blount’s disease has been suggested to be more frequent in African, Afro-american populations. Blount’s disease has to be differentiated from physiological bowing (physiologic genu varum) and rickets. Early diagnosis and treatment of Blount’s disease is essential as the disease process is reversible in early stage. Case; A three years old female child was brought by her mother with complaint of progressive bowing of both lower limbs for last one year. She achieved her milestones at appropriate age and started walking at 11 months of age without support. On examination, her height was 90 cms (at 10th centile) and weight was 17 kgs (at 90th centile). BMI (body mass index) was 20.9 (obese). There were no clinical signs or symptoms of rickets i.e frontal bossing, wide wrist, rachitic rosary, carpopedal spasm, fits or muscle weakness etc. Roentgenogram showed tibia in varus with a peculiar beak at metaphysic and raised metaphyseal-diaphyseal angle (>16 degrees). Serum calcium and serum vitamin D (25-hydroxy vitamin D) were normal. Serum alkaline phosphatase level was raised. Keeping in view typical history, examination findings and radiological epiphyseal beaking along with raised metaphyseal-diaphyseal angle, diagnosis of Infantile Blount’s disease was made. Conclusion; The clinicians should have a high suspicion of infantile blount’s disease when a child, more than 3 year’s age presents with severe varus deformity at proximal tibia with typical radiological findings. Characteristic radiologic findings along with history and examination help to distinguish it from physiologic bowing (physiologic genu varum) and rickets. Keywords; Blount’s disease, Physiologic genu varum, Rickets, Tibia vara, Osteochondrosis deformans tibiae
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18

Gavrilyk, V. O. "The essence of physical rehabilitation of children with cerebral palsy using kinesioplasty: problems and prospects." Scientific Journal of National Pedagogical Dragomanov University. Series 15. Scientific and pedagogical problems of physical culture (physical culture and sports), no. 7(138) (July 27, 2021): 33–36. http://dx.doi.org/10.31392/npu-nc.series15.2021.7(138).07.

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The article presents a theoretical analysis and summarizes approaches to the use of various forms and methods of rehabilitation in the physical rehabilitation of children with cerebral palsy. Based on the theoretical analysis and generalization of educational and methodological and scientific literature, it was found that the physical rehabilitation of children with cerebral palsy using kinesioplasty is relevant for practical use. Modern approaches to physical rehabilitation of children with cerebral palsy are analyzed. It was found that such approaches include: therapeutic physical culture; V.I. Kozyavkin's method; method of dynamic proprioceptive correction K.O. Semenova; neurodevelopmental therapy of K. and B. Bobat and V. Voit; osteopathy; erotherapy and orthopedic correction. The full development of a person's genetic program over time is determined by the adequate level of his motor activity. With developmental delays caused by genetic disorders, problems with pregnancy, pathological childbirth, the consequences of the disease, vaccination and many other factors, we must choose a technique (set of methods) that would restore the natural process of ontogenesis of the child. Any of these factors, or a combination of them, leads to the accumulation of errors in the motor stereotype, which are expressed in developmental delays (depending on the degree of intensity of the error and the time of its accumulation). The article substantiates, elaborates and defines the methods and principles of work on the system of kinesioplasty. The expediency of expanding the range of rehabilitation services for children with cerebral palsy and learning to work independently with parents at home has been studied.
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19

Hoffman, Rhonda M. "Carbohydrate metabolism and metabolic disorders in horses." Revista Brasileira de Zootecnia 38, spe (July 2009): 270–76. http://dx.doi.org/10.1590/s1516-35982009001300027.

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Horses evolved consuming primarily fermentable forage carbohydrates, but forage diets have been traditionally supplemented with grain meals rich in starch and sugar in order to provide additional calories, protein and micronutrients. Starch and sugar are important for performance horses, but the consumption starch-rich meals may cause equine digestive and metabolic disorders. The critical capacity for preileal starch digestibility appears to be 0.35 to 0.4% but may be as little, depending on the source of starch. Small intestinal absorption of simple sugars is limited by the activity and expression of two classes of glucose carrier proteins, which are affected by chronic intake of hydrolyzable carbohydrate but may be sluggish to respond to abrupt changes in diet, further exacerbating the risk of overload. The most rapid fermentation occurs during starch overload or in the presence of fructans. Rapid fermentation perturbs the microbial and pH balance of the cecum and colon, favoring proliferation of Lactobacillus spp and acid production and increasing the risk of colic and laminitis. In addition to digestive disturbances, feeding grain concentrates rich in hydrolyzable carbohydrate may increase the risk of insulin resistance, which has been associated with obesity, laminitis and chronic founder, developmental orthopedic disease, and Cushing's disease in horses. This threshold concentration of starch intake may be a starting point for horse owners, feed manufacturers and veterinarians that may be claimed to be "low" enough to reduce risk in insulin resistant horses sensitive to grain-associated disorders.
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20

Figgie, Mark P., Barbara A. Kahn, Jason L. Blevins, and Matthew P. Abdel. "General Principles of the Surgical Management of Juvenile Inflammatory Arthritis." Open Orthopaedics Journal 14, no. 1 (November 25, 2020): 150–53. http://dx.doi.org/10.2174/1874325002014010150.

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Surgical management of Juvenile Inflammatory Arthritis (JIA) presents many challenges for the patient, healthcare team and especially the orthopedic surgeon. Collaborative care efforts must be endorsed early on in order to facilitate maximal postoperative functional ability. Developmental levels, both physically and emotionally must be established preoperatively. It is important to determine bone age and growth plate closure to establish the best surgical intervention and avoid leg-length discrepancies later in life. Emotional maturity may impede the ability of the patient to manage pain or follow directions throughout the recuperative process. Surgical challenges require a team approach that includes rheumatologists who can manage disease modifying agents and the effects of discontinuing medications or planning surgery around dosing regimens in order to decrease immunosuppression. Managing multiple joint issues will require an expert team of occupational and physical therapists to prepare adaptive devices and rehabilitate patients who have significant functional limitations and decreased muscular strength. Because of an anticipated longer and more difficult recovery for JIA patients, case managers must engage in support systems and plan for postoperative care prior to surgery. Implant specific devices need to accommodate small bone structure, bone loss and complex deformities along with diaphyseal or epiphyseal dysplasia. Neurologic assessments will avoid cervical spine compromise during anesthesia administration. Bilateral procedures in the lower extremities should be considered whenever flexion contractures are present and should take place prior to upper extremity joint replacements. Restoring function to the hand and wrist takes priority over elbow and shoulder replacement, respectively. The key factors of appropriate surgical management in JIA patients are to decrease pain, restore function and avoid loss of ambulation at a young age. Extensive preoperative planning and communication with the patient, support system and healthcare team are warranted to address the complexities in this patient population.
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21

MAEDA, Masaya, and Fumio SATO. "Retrospective Study of Clinical History of Influence of Developmental Orthopedic Diseases on Racing Performance of Japanese Thoroughbreds." Journal of the Japan Veterinary Medical Association 70, no. 5 (2017): 297–302. http://dx.doi.org/10.12935/jvma.70.297.

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22

Goiano, Ellen de Oliveira, Miguel Akkari, Juliana Pietrobom Pupin, and Claudio Santili. "THE EPIDEMIOLOGY OF DEVELOPMENTAL DYSPLASIA OF THE HIP IN MALES." Acta Ortopédica Brasileira 28, no. 1 (February 2020): 26–30. http://dx.doi.org/10.1590/1413-785220202801215936.

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ABSTRACT Developmental Dysplasia of the Hip (DDH) is one of the most common orthopedic hip diseases of the pediatric population. There is a predominance in females and patients with known risk factors. Objective: To evaluate the characteristics of DDH in a reference center and compare them with the literature. Methods: This is a cross-sectional observational study based on the review of medical records and radiographs from which epidemiological data such as laterality, age at diagnosis, acetabular index, radiographic classification and others were collected. Results: A total of 297 medical records were found between May 1974 and June 2009. Of those, 147 patients (216 affected hips) were eligible for the survey. Most of the patients came from the state of São Paulo (91.1%), were born in autumn/winter (66.7%), reported as Caucasians (76.9%), with bilateral involvement (46.9%) and mean age at diagnosis of 22.8 months. Conclusion: The most frequent type of DDH was high dislocation (28.7%), and the acetabular index progressively increased with the age. The International Hip Dysplasia Institute classification was found to be more reproducible than Tönnis classification. Delayed diagnosis was associated with the absence of risk factors and with bilaterality. Level of Evidence III, Retrospective comparative study.
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23

Tchetina, Elena V. "Developmental Mechanisms in Articular Cartilage Degradation in Osteoarthritis." Arthritis 2011 (December 29, 2011): 1–16. http://dx.doi.org/10.1155/2011/683970.

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Osteoarthritis is the most common arthritic condition, which involves progressive degeneration of articular cartilage. The most recent accomplishments have significantly advanced our understanding on the mechanisms of the disease development and progression. The most intriguing is the growing evidence indicating that extracellular matrix destruction in osteoarthritic articular cartilage resembles that in the hypertrophic zone of fetal growth plate during endochondral ossification. This suggests common regulatory mechanisms of matrix degradation in OA and in the development and can provide new approaches for the treatment of the disease by targeting reparation of chondrocyte phenotype.
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24

Asahara, Hiroshi, Masafumi Inui, and Martin K. Lotz. "Tendons and Ligaments: Connecting Developmental Biology to Musculoskeletal Disease Pathogenesis." Journal of Bone and Mineral Research 32, no. 9 (July 13, 2017): 1773–82. http://dx.doi.org/10.1002/jbmr.3199.

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25

McGann, Robert, and Alan Gurd. "The Association Between Charcot-Marie-Tooth Disease and Developmental Dysplasia of the Hip." Orthopedics 25, no. 3 (March 2002): 337–39. http://dx.doi.org/10.3928/0147-7447-20020301-20.

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26

Boughton, Oliver R., Keisuke Uemura, Kazunori Tamura, Masaki Takao, Hidetoshi Hamada, Justin P. Cobb, and Nobuhiko Sugano. "Gender and disease severity determine proximal femoral morphology in developmental dysplasia of the hip." Journal of Orthopaedic Research 37, no. 5 (March 28, 2019): 1123–32. http://dx.doi.org/10.1002/jor.24272.

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27

Currie, JoVan, Douglas P. Beall, and Justin Q. Ly. "Trevor's Disease Involving the Fifth Metatarsal of the Left Foot: A Case Report." Foot & Ankle International 24, no. 8 (August 2003): 650–52. http://dx.doi.org/10.1177/107110070302400814.

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Dysplasia epiphysealis hemimelica (Trevor's disease) is a rare developmental disorder of epiphyseal growth. A review of the literature reveals that metatarsal involvement has been described in only two cases and in these cases two metatarsals were reported as being only slightly enlarged. This article reports a case of dysplasia epiphysealis hemimelica involving the medial half of the epiphysis of the left fifth metatarsal.
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28

Hartofilakidis, George, Kalliopi Lampropoulou-Adamidou, and Theofilos S. Karachalios. "An Attempt to Throw Light on Congenital Hip Disease Terminology and Anticipation of Clinical Outcomes when Treated with Total Hip Arthroplasty." HIP International 27, no. 3 (May 2017): 211–14. http://dx.doi.org/10.5301/hipint.5000528.

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The terminology of the wide spectrum of hip deformities seen during the neonatal, infantile and adult life period remains controversial, mainly due to the indiscriminate use of the terms dysplasia, subluxation, congenital hip disease, developmental hip disease, congenital dislocation, etc. This has a serious implication on the anticipation of clinical outcomes, complications and comparison of different reconstructive techniques when these patients are treated with total hip arthroplasty in adulthood. Journals, specialising in this field, should publish homogeneous series (type of the disease, reconstruction technique, implants) in order to clarify arguments and anticipate clinical outcomes.
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29

Rubashkin, Sergey A., Anastasiya V. Sertakova, Magomed M. Dohov, and Musa C. Timaev. "Degenerative hip disorders in children." Pediatric Traumatology, Orthopaedics and Reconstructive Surgery 6, no. 3 (September 28, 2018): 78–86. http://dx.doi.org/10.17816/ptors6378-86.

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A group of degenerative hip disorders in children is discussed in the current review. The key pathogenic focus of these disturbances is an initial hyaline cartilage alteration or subchondral bone, which provokes damage of the epiphyseal hip zone. Eventually, such events lead to a local inflammatory reaction in the hip joint, cytokine cascade with hypoxia and ischemia, and apoptosis and necrosis in the hip. Developmental hip dysplasia, Legg-Calvé-Perthes disease, and slipped capital femoral epiphysis are analyzed in this review as the spreading forms of degenerative hip disorders in children. The key points of etiology, pathogenesis, diagnostics, and treatment of each disease are characterized. A group of degenerative hip joint diseases remains under the close supervision of pediatric orthopedists and traumatologists because of their high prevalence, severity of clinical manifestations, damage of life quality, and development of complications in the form of arthritis. In addition, the lack of unified approaches to the application of treatment methods for degenerative hip joint diseases is the subject of discussion among surgeons and often causes a decrease in the quality of care in terms of time and volume.
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30

Millis, Michael B., Cara L. Lewis, Perry L. Schoenecker, and John C. Clohisy. "Legg-Calvé-Perthes Disease and Slipped Capital Femoral Epiphysis: Major Developmental Causes of Femoroacetabular Impingement." Journal of the American Academy of Orthopaedic Surgeons 21 (2013): S59—S63. http://dx.doi.org/10.5435/00124635-201300001-00012.

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31

Millis, M. B., C. L. Lewis, P. L. Schoenecker, and J. C. Clohisy. "Legg-Calve-Perthes Disease and Slipped Capital Femoral Epiphysis: Major Developmental Causes of Femoroacetabular Impingement." Journal of the American Academy of Orthopaedic Surgeons 21, suppl (June 30, 2013): S59—S63. http://dx.doi.org/10.5435/jaaos-21-07-s59.

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32

Vanhoenacker, Filip M., Paolo Simoni, Frederik Bosmans, and Nathalie Boutry. "Congenital and Developmental Abnormalities of the Hand and Wrist." Seminars in Musculoskeletal Radiology 25, no. 02 (April 2021): 260–71. http://dx.doi.org/10.1055/s-0040-1722613.

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AbstractIdentification of congenital skeletal abnormalities is complex because of the large variety of individual syndromes and dysplasias that are often difficult to remember. Although a correct diagnosis relies on a combination of clinical, radiologic, and genetic tests, imaging plays an important role in selecting those patients who should be referred for further genetic counseling and expensive genetic tests. In addition to information derived from radiologic analysis of other skeletal elements, radiographs of the hand and wrist may provide particular useful information. In the first part of this article, we provide a guide for a systematic radiologic analysis of the hand and wrist bones that may help characterize congenital and developmental diseases. Special attention is given to the use of correct terminology. In the second part, we discuss typical examples of congenital and developmental diseases involving the hand and wrist, with an emphasis on skeletal dysplasias.
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33

Borzakova, S. N., L. A. Kharitonova, I. M. Osmanov, and I. D. Maikova. "Ehlers-Danlos syndrome with damage to the digestive tract, heart, kidneys and other organs." Experimental and Clinical Gastroenterology 1, no. 1 (March 17, 2021): 183–90. http://dx.doi.org/10.31146/1682-8658-ecg-185-1-183-190.

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Relevance: Hereditary connective tissue disorders (HCTDs) are a heterogeneous group of diseases caused by mutations in the genes of extracellular matrix proteins or proteins involved in connective tissue morphogenesis. Mutations of these genes lead to the development of many HCTDs. The best known monogenic variants of HCTDs are Marfan syndrome, Ehlers-Danlos syndrome, and osteogenesis imperfecta. Inheritance is mainly autosomal, dominant or recessive. Although the first signs of HCTDs develop as early as the first year of life, it takes several years for pediatricians and specialty physicians to make the diagnosis of connective tissue dysplasia because of a lack of clear methodological approach. The disease is multi-morbid and may manifest under gastroenterological, cardiological, nephrological, or respiratory masks.Aim: to present a clinical case of Ehlers-Danlos syndrome with multiorgan digestive, heart, kidneys, and other lesions.Material and methods: the case history is presented of a 15‑year-old boy with Ehlers-Danlos syndrome, classic type.Discussion: defective collagen increased the connective tissue extensibility affecting function of many body organs and systems, including gastrointestinal, biliary, and urinary tracts, musculoskeletal and cardiovascular systems. Small developmental anomalies led to functional (motor) disorders, which contributed to the chronic organic pathology (erosive reflux esophagitis, gastroduodenitis, cholelithiasis, proctosigmoiditis, chronic pyelonephritis, or chronic sinusitis). Given the multi-organ character of the lesions, the progredient course of bone and joint changes, and early development of disability, the prognosis for the health of this child is serious. A multidisciplinary approach is important to plan the follow-up (with orthopedist, gastroenterologist, cardiologist, ophthalmologist, and nephrologist). Timely rehabilitation, therapeutic physical training courses, massage, metabolic, and anti-relapse treatment are necessary to slow down the progredient course of the hereditary connective tissue disease.
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Graf, Reinhard. "Hip Sonography: Background; Technique and Common Mistakes; Results; Debate and Politics; Challenges." HIP International 27, no. 3 (May 2017): 215–19. http://dx.doi.org/10.5301/hipint.5000514.

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Developmental dysplasia of the hip (DDH) is the commonest ‘congenital’ disease of the locomotor system throughout the world. According to the World Health Organisation (WHO) Bone & Joint Decade (2000-2010) 10%-15% of patients who are under the age of 50 when they require a hip replacement do so because of infant hip dysplasia. The background; technique and common mistakes; results; debate and politics; and the challenges of infant hip sonography are reviewed.
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Canavese, Federico, Pablo Castañeda, James Hui, LianYong Li, YiQiang Li, and Andreas Roposch. "Developmental dysplasia of the hip: Promoting global exchanges to enable understanding the disease and improve patient care." Orthopaedics & Traumatology: Surgery & Research 106, no. 7 (November 2020): 1243–44. http://dx.doi.org/10.1016/j.otsr.2020.09.004.

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36

Gersing, Alexandra S., Klaus Woertler, Pia M. Jungmann, Christine Bollwein, and Benedikt J. Schwaiger. "Vertebrae, Vertebral End Plates, and Disks: Concepts and Specific Pathologies." Seminars in Musculoskeletal Radiology 23, no. 05 (September 25, 2019): 489–96. http://dx.doi.org/10.1055/s-0039-1693976.

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AbstractVertebral end plates cover the osseous vertebral body. The integrity of the cartilaginous end plates is of great importance for the entire vertebral segment because the vascularized end plate provides the nutrition for the avascular disk. Yet several pathologies may occur at these end plates at the embryonic stage, in childhood to adolescence (e.g., ossification and segmentation disorders of the spine, persistent notochord, slippage of the growth plate), as well as in the mature spine of an adult (degenerative disk disease), that may impact the integrity of the cartilaginous end plate and therefore lead to severe diseases of the spine. This article reviews specific congenital, developmental, and degenerative disorders of the vertebral end plate as well as both established and newly introduced imaging techniques, such as ultrashort echo time imaging based on magnetic resonance imaging, that are suitable for imaging of the end plate.
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Vanhoenacker, Filip M., Frederik Bosmans, Charlotte Vanhoenacker, and Anja Bernaerts. "Imaging of Mixed and Radiopaque Jaw Lesions." Seminars in Musculoskeletal Radiology 24, no. 05 (October 2020): 558–69. http://dx.doi.org/10.1055/s-0039-3402766.

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AbstractRadiopaque lesions and lesions of mixed density are less frequent than radiolucent lesions of the jawbones. They comprise a spectrum of odontogenic and non-odontogenic lesions. The latter group includes inherited and developmental disorders, osteomyelitis, and benign and malignant primary bone tumors and metastases. Most odontogenic radiopaque or mixed lesions are either related to the apex or more rarely to the crown of the tooth, although there are exceptions to this rule. Some lesions, such as a torus mandibularis and torus palatinus, have a characteristic location, whereas others show no relationship to the dentition. This article describes the most characteristic and prevalent radiopaque and mixed lesions of the jaws and their imaging characteristics. Paget's disease, fibrous dysplasia, and rare sclerotic bone diseases of the maxillofacial bones are discussed elsewhere in this issue. Careful correlation of clinical presentation, panoramic radiographs, cone beam computed tomography, and histopathology are the cornerstones for appropriate lesion characterization.
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38

Novais, Eduardo N., Sara D. Bixby, John Rennick, Patrick M. Carry, Young-Jo Kim, and Michael B. Millis. "Hip Dysplasia Is More Severe in Charcot-Marie-Tooth Disease Than in Developmental Dysplasia of the Hip." Clinical Orthopaedics and Related Research® 472, no. 2 (August 14, 2013): 665–73. http://dx.doi.org/10.1007/s11999-013-3127-z.

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39

Ruisi, Mary M., Evangelista Jessica, Daniel Green, Brenda Oiyemhonlan, Shivani Shah, Benjamin T. Kile, Rachel Burt, Alexis Thompson, and James B. Bussel. "Radioulnar Synostosis and Its Hematology and Genetic Associations." Blood 116, no. 21 (November 19, 2010): 2521. http://dx.doi.org/10.1182/blood.v116.21.2521.2521.

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Abstract Abstract 2521 Defects in the radial ray are associated with hematological problems such as thrombocytopenia and bone marrow failure, i.e. Thrombocytopenia Absent Radius Syndrome and Fanconi Anemia. Congenital radioulnar synostosis (RUS), a rare developmental anomaly involving fusion of the bones of the forearms, has been recognized in the orthopedic literature since the mid-1800s. The bony union of the radius and ulna prevents normal supination of the affected forearm, yet the condition is painless and compatible with a normal functional existence without the need for surgery. RUS occurs more frequently in males, and is bilateral in about fifty percent of cases. In utero, growth patterning of the limbs along the various axes requires products of the Homeobox (Hox) genes, which are members of a highly conserved set of transcription gene factors that are expressed very early in embryonic development. In addition to limb patterning, studies regarding homeobox genes have suggested that they are involved in hematopoiesis, including self-renewal, proliferation, differentiation, and leukemogensis. In the year 2000, Thompson and Nguyen published a report in Nature Genetics that identified an unusual association of amegakaryocytic thrombocytopenia and radioulnar synostosis in two unrelated, non-consanguineous families; sequencing of these families found a point mutation of exon 2 of HoxA11. Several other studies have confirmed the association of bone marrow failure or thrombocytopenia and RUS, although a number of patients have not tested positive for the HoxA11 mutation. The aims of our IRB approved project are to create a registry of patients and their family members with congenital RUS with or without hematological problems; compile their medical histories, clinical phenotypes, and results of complete blood counts; archive blood samples; and perform genomic testing for HoxA11 and other DNA screening. We began recruiting subjects at New York Presbyterian Hospital Department of Hematology/Oncology in August of 2009. Through radiology screening, chart review, and referrals from our collaborating pediatric orthopedists, we have identified eight source patients with RUS. All except one patient have hematological manifestations; three have subtle symptoms of easy bruising and recurrent epistaxis, one had thrombocytopenia with reduced megakaryoctyes, one has intermittent thrombocytopenia and leucopenia of undetermined etiology, one had pancytopenia/bone marrow failure in infancy and is status post bone marrow transplant (s/p BMT), and one had acute lymphoblastic leukemia/lymphoma in young adulthood and is also s/p BMT. The eighth patient was recently adopted from an orphanage in a foreign country, and his past and family histories are unknown. Other related anomalies or syndromes found in the primary subjects or family members are clinodactyly of the 5th finger, Angelman Syndrome, Autism Spectrum Disorders, Pulmonary Hypertension (PHTN), Polycystic Kidney Disease (PCKD), and possible Poland Syndrome. We have also compiled family pedigrees and collected blood from immediate family members, some of whom also have RUS and hematological manifestatations [Figure 1]. Five of the eight families are of Mediterranean (mostly Italian) ancestry, suggesting a possible founder effect to the mutation versus geographic bias of the New York metropolitan area. One family of Italian descent had consanguinity of the subject's maternal grandparents. We are in the process of sequencing HoxA11 for the subjects and their families. Subject #1 previously tested normal for the HoxA11 gene. If samples are determined to be normal for HoxA11, genome wide SNP analysis for further homozygosity and/or linkage mapping will be pursued. We hope to increase awareness of the linked clinical entities of RUS, thrombocytopenia, bone marrow failure, and possible malignant transformation at the level of the general pediatrician, orthopedists, and hematologists. Additionally, besides HoxA11, we hope to discover other candidate genes or molecular mechanisms within related Hox genes that may influence the development of forearm morphogenesis, thrombopoiesis, and leukemogenesis. Disclosures: No relevant conflicts of interest to declare.
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40

Kotnis, Rohit, Veronique Spiteri, Christopher Little, Tim Theologis, Andrew Wainwright, and Michael K. Benson. "Hip arthrography in the assessment of children with developmental dysplasia of the hip and Perthesʼ disease." Journal of Pediatric Orthopaedics B 17, no. 3 (May 2008): 114–19. http://dx.doi.org/10.1097/bpb.0b013e3280103684.

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41

Koczewski, Pawel, and Marek Napiontek. "Perthes' disease or late avascular necrosis after developmental dislocation of the hip?: 10 children followed for 6-35 years." Acta Orthopaedica Scandinavica 72, no. 4 (January 2001): 331–34. http://dx.doi.org/10.1080/000164701753541961.

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42

Kim, Jung Ryul, and Sung Jin Shin. "Severe Perthesʼ disease or late avascular necrosis after successful closed reduction of developmental dysplasia of the hip." Journal of Pediatric Orthopaedics B 19, no. 2 (March 2010): 155–57. http://dx.doi.org/10.1097/bpb.0b013e3283367b60.

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43

Bennett, Samuel, Colin Whitewood, and Jiake Xu. "Concurrent Scoliosis and Dentofacial Anomaly: A Case Report." Case Reports in Orthopedic Research 4, no. 2 (June 18, 2021): 157–65. http://dx.doi.org/10.1159/000516133.

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The relationship between scoliosis, dentofacial anomaly, and malocclusion is poorly understood. We report a novel and complex pediatric case of concurrent juvenile scoliosis, dentofacial anomaly, and malocclusion, successfully treated and managed by an interdisciplinary hospital team over a 15-year period. The degree of severity of the scoliosis and dentofacial anomaly necessitates surgical intervention. Successful orthopedic surgical procedures have improved the patient’s quality of life. Future surgical correction of the dentofacial anomaly and malocclusion is necessary to improve the patient’s condition from psychosocial, aesthetic, and functional standpoints. The patient’s condition is characterized by multiple congenital abnormalities, developmental delay, seizure disorder, juvenile scoliosis, and dentofacial anomaly with malocclusion. Intriguingly, a unifying diagnosis for the patient’s condition could not be confirmed despite the indication of a syndromic cause. The collection of characteristics is suggestive of the chromosome 22q11.2 deletion syndromes (including velocardiofacial syndrome [VCFS] or DiGeorge syndrome) as possible genetic causes. Clinical genetics testing was unable to establish a diagnosis of chromosome 22q11.2 deletion, VCFS or DiGeorge syndrome. Further investigation of the genotype-phenotype relationships of scoliosis, dentofacial anomaly, and malocclusion is required to improve medical knowledge, diagnostic capability, and patient care, specifically relating to cases of undiagnosed diseases. Future research utilizing next-generation sequencing techniques is necessary to aim for precise genetic diagnosis, including knowledge of the underlying cellular and molecular mechanisms, for the development of the potential of therapeutic approaches targeting gene repair.
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44

Kernohan, W. G., B. Trainor, P. Haugh, A. Johnston, I. Turner, and R. A. B. Mollan. "The Continuing Development of Vibration Arthrometry as a Screening Method in Developmental Dysplasia of the Hip." HIP International 4, no. 1 (January 1994): 41–49. http://dx.doi.org/10.1177/112070009400400105.

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As part of the continuing development of a non-invasive, objective screening method to achieve efficient early detection of developmental dysplasia of the hip (DDH), we determined the diagnostic sensitivity of an experienced nurse examiner and vibration arthrometry in the range of pathological anatomy of the disease. A cohort of 25 children were studied prior to commencement of their treatment. The hips were classified into four categories by an experienced paediatric orthopaedic surgeon with all diagnostic modalities available (“normal”, “stable but dysplastic”, “unstable and reducible” or “irreducible”). Of the 28 hips identified as abnormal, two hips were classified as stabledysplastic, 11 were unstable/reducible and 15 were irreducible hips. The experienced nurse examiner identified eight out of 11 unstable-reducible hips and reported clinical signs of abnormality in another 18 cases. Vibration arthrometry identified nine out of 11 unstable-reducible dislocations and detected abnormal signals from three irreducible hips. Vibration arthrometry may be of value in detecting abnormality in unstable-reducible and clicking hips. The low detection rate in the irreducible and dysplastic hips by vibration arthrometry was due to the absence of detectable vibration from mechanical events as the hips were manoeuvred. Examination by an experienced clinical examiner continues to be necessary if all degrees of mechanical abnormality in DDH are to be detected. Further development is required to achieve an objective non-invasive system of detecting all stages in the pathology of DDH.
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45

Rowland, Thomas. "Cardiovascular Physiology and Disease in Youth—The Year That Was 2017." Pediatric Exercise Science 30, no. 1 (February 1, 2018): 32–34. http://dx.doi.org/10.1123/pes.2017-0297.

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The value of exercise studies in children often resides in defining differences, which might make growing youngsters unique from their mature adult counterparts. Many such physiological and behavioral developmental differences have been identified, emphasizing that children are not, physiologically speaking, simply small adults. The following 2 studies published in the past year were chosen for their importance in contributing to the insights into previously unexplored areas. The first study addresses the influence of exercise on physiological variability, an emerging field that offers to provide important insights into the nature of such responses. The second study concerns the effects of altitude on physiological responses to exercise, an area of considerable importance for the health and physical performance of pediatric athletes, climbers, and residents at high altitude. These studies exemplify the genre of investigations that are essential for advancing our understanding of the link between exercise with physical performance and the well-being of growing children and adolescents.
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46

Li, Chuan, Zhi Peng, You Zhou, Yongyue Su, Pengfei Bu, Xuhan Meng, Bo Li, and Yongqing Xu. "Comprehensive analysis of pathological changes in hip joint capsule of patients with developmental dysplasia of the hip." Bone & Joint Research 10, no. 9 (September 1, 2021): 558–70. http://dx.doi.org/10.1302/2046-3758.109.bjr-2020-0421.r2.

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Aims Developmental dysplasia of the hip (DDH) is a complex musculoskeletal disease that occurs mostly in children. This study aimed to investigate the molecular changes in the hip joint capsule of patients with DDH. Methods High-throughput sequencing was used to identify genes that were differentially expressed in hip joint capsules between healthy controls and DDH patients. Biological assays including cell cycle, viability, apoptosis, immunofluorescence, reverse transcription polymerase chain reaction (RT-PCR), and western blotting were performed to determine the roles of the differentially expressed genes in DDH pathology. Results More than 1,000 genes were differentially expressed in hip joint capsules between healthy controls and DDH. Both gene ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) analyses revealed that extracellular matrix (ECM) modifications, muscle system processes, and cell proliferation were markedly influenced by the differentially expressed genes. Expression of Collagen Type I Alpha 1 Chain (COL1A1), COL3A1, matrix metalloproteinase-1 (MMP1), MMP3, MMP9, and MMP13 was downregulated in DDH, with the loss of collagen fibres in the joint capsule. Expression of transforming growth factor beta 1 (TGF-β1) was downregulated, while that of TGF-β2, Mothers against decapentaplegic homolog 3 (SMAD3), and WNT11 were upregulated in DDH, and alpha smooth muscle actin (αSMA), a key myofibroblast marker, showed marginal increase. In vitro studies showed that fibroblast proliferation was suppressed in DDH, which was associated with cell cycle arrest in G0/G1 and G2/M phases. Cell cycle regulators including Cyclin B1 (CCNB1), Cyclin E2 (CCNE2), Cyclin A2 (CCNA2), Cyclin-dependent kinase 1 (CDK1), E2F1, cell division cycle 6 (CDC6), and CDC7 were downregulated in DDH. Conclusion DDH is associated with the loss of collagen fibres and fibroblasts, which may cause loose joint capsule formation. However, the degree of differentiation of fibroblasts to myofibroblasts needs further study. Cite this article: Bone Joint Res 2021;10(9):558–570.
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47

Senghas, Richard E. "The Ciba Collection of Medical Illustrations. Vol. 8. Musculo-skeletal System. Part II. Developmental Disorders, Tumors, Rheumatic Diseases, and Joint Replacement." Journal of Bone & Joint Surgery 73, no. 4 (April 1991): 637. http://dx.doi.org/10.2106/00004623-199173040-00035.

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48

Yanagimoto, Shigeru, Hiraku Hotta, Ryouichi Izumida, and Toyonori Sakamaki. "Long-term results of Chiari pelvic osteotomy in patients with developmental dysplasia of the hip: indications for Chiari pelvic osteotomy according to disease stage and femoral head shape." Journal of Orthopaedic Science 10, no. 6 (November 2005): 557–63. http://dx.doi.org/10.1007/s00776-005-0942-4.

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49

Örgüç, Sebnem, and Remide Arkun. "Tumor-like Lesions of Bone and Soft Tissues and Imaging Tips for Differential Diagnosis." Seminars in Musculoskeletal Radiology 24, no. 06 (December 2020): 613–26. http://dx.doi.org/10.1055/s-0040-1721378.

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AbstractIn the musculoskeletal system, tumor-like lesions may present similar imaging findings as bone and soft tissue tumors and can be defined as tumors on radiologic examinations. Misinterpretation of the imaging findings can lead to inappropriate clinical management of the patient.There is still some debate regarding the pathophysiology and origin of tumor-like lesions that include congenital, developmental, inflammatory, infectious, metabolic, reactive, posttraumatic, post-therapeutic changes, and some miscellaneous entities causing structural changes. Although tumor-like lesions are historically defined as non-neoplastic lesions, some of them are classified as real neoplasms.We discuss a spectrum of entities mimicking tumors of bone and soft tissues that include various non-neoplastic diseases and anatomical variants based on imaging findings.
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50

Sertakova, A. V., M. Ch Timaev, S. A. Rubashkin, M. M. Dokhov, and K. P. Zvereva. "CLINICAL AND DIAGNOSTICS CRITERIA OF UNDIFFERENTIATED CONNECTIVE TISSUE DYSPLASIA IN CHILDREN WITH DEVELOPMENTAL DYSPLASIA OF THE HIP." Pediatria. Journal named after G.N. Speransky 100, no. 5 (October 11, 2021): 69–75. http://dx.doi.org/10.24110/0031-403x-2021-100-5-69-75.

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Developmental dysplasia of the hip (DDH) is characterized by varying degrees of underdevelopment of the hip joint (HJ) and para-articular tissues with numerous variants of clinical and anatomical criteria. It is now considered one of the manifestations of undifferentiated connective tissue dysplasia (UCTD), which is confirmed by genetic testing. Undoubtedly, children with DDH also have other manifestations of UCTD, the clinical combination of which must be taken into account for the overall prognosis of the patient's quality of life, as well as the determination of control points in the treatment and prevention of the disease. Materials and methods of research: a singlestage observational screening study was carried out involving 785 children (578 girls and 207 boys) from 2 to 14 years old (7,5±1,5 years) with a radiographically confirmed diagnosis of DDH of various variants (torsion-valgus deformity, subluxation , dislocation in the vehicle). The control group consisted of 259 children (140 girls and 119 boys) without HJ pathology, who were examined at the Research Institute of Traumatology, Orthopedics and Neurosurgery for preparation for a kindergarten/school/sports section, comparable in age (6,5±1,3 years). The criteria for selecting UCTD was the Bayesian classifier modified by T.I. Kadurina and V.N. Gorbunova, including the 50 most common clinical markers. For analysis the clinical anamnestic method, instrumental data of somatic symptom disorder test was used. Results: after summing up the scores in children with DDH, grade I UCTD was diagnosed in 40,0% (314), grade II – in 36,1% (283) and grade III – in 23,9% (188). In most cases, symptoms of UCTD with an Ehlers-Danlos-like syndrome were noted, which are characterized by changes in the musculoskeletal system, skin, connective tissue elements of internal organs (hypermobility of the joints, stretchable skin, anatomical disorders of the heart valves, bile ducts, etc.) or signs of UCTD with an unclassifiable phenotype when there is a variety of stigmas. All children in this group have joint hypermobility, myotonic syndrome, and various types of posture disorders. In the control group with DDH, 27,4% (71) noted the burdened heredity in the pathology of the musculoskeletal system on the mother's or father's side. In the control group the signs of UCTD stigma were also diagnosed, however, the degree of their severity and occurrence were significantly lower (p<0,05). In these children, the most significant were changes in the organ of vision, nervous system, maxillofacial region, digestive tract and a decrease in immune function. Conclusion: manifestations of UCTD are significantly more common in children with DDH compared with healthy children; pathology of the musculoskeletal and cardiovascular systems prevails in the structure of UCTD stigmas. In the pathogenesis of DDH, a genetic predisposition is realized (45,5%, 357 children), hypermobility of joints, myatonic syndrome were observed in all children in the study group. Manifestations of UCTD were also found in the control group, however, the stigmas were of a visceral nature of lesions and impairments from the sense organs, which is not the subject of a pediatric orthopedist's study. Thus, the features of UCTD in children with DDH are considered as a predictor of the pathology severity.
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