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Hypophosphatasia Could Explain Some Atypical Femur Fractures
Hypophosphatasia Could Explain Some Atypical Femur Fractures What we know Hypophosphatasia (HPP) is a rare genetic disease that affects the development of bones and teeth in children (Whyte 1985). HPP is caused by the absence or reduced amount of an enzyme called tissue-nonspecific alkaline phosphatase (TAP), also called bone-specific alkaline phosphatase (BSAP). The absence of TAP raises the level of inorganic pyrophosphate (Pi), which prevents calcium and phosphate from creating strong, mineralized bone. Without TAP, bones can become weak. In its severe form, HPP is fatal and happens in 1/100,000 births. Because HPP is genetic, it can appear in adults as well. A recent study has identified a milder, more common form of HPP that occurs in 4 of 1000 adults (Dahir 2018). This form of HPP is usually seen in early middle aged adults who have low bone density and sometimes have stress fractures in the feet or thigh bone. Sometimes these patients lose their baby teeth early, but not always. HPP is diagnosed by measuring blood levels of TAP and vitamin B6. An elevated vitamin B6 level [serum pyridoxal 5-phosphate (PLP)] (Whyte 1985) in a patient with a TAP level ≤40 or in the low end of normal can be diagnosed with HPP. Almost half of the adult patients with HPP in the large study had TAP >40, but in the lower end of the normal range (Dahir 2018). The connection between hypophosphatasia and osteoporosis Some people who have stress fractures get a bone density test and are treated with an osteoporosis medicine if their bone density results are low. -
Imaging of Osteomyelitis: the Key Is in the Combination
Special RepoRt Special RepoRt Imaging of osteomyelitis: the key is in the combination An accurate diagnosis of osteomyelitis requires the combination of anatomical and functional imaging techniques. Conventional radiography is the first imaging modality to begin with, as it provides an overview of both the anatomy and the pathologic conditions of the bone. Sonography is most useful in the diagnosis of fluid collections, periosteal involvement and soft tissue abnormalities, and may provide guidance for diagnostic or therapeutic interventions. MRI highlights sites with tissue edema and increased regional perfusion, and provides accurate information of the extent of the infectious process and the tissues involved. To detect osteomyelitis before anatomical changes are present, functional imaging could have some advantages over anatomical imaging. Fluorine-18 fluorodeoxyglucose-PET has the highest diagnostic accuracy for confirming or excluding the diagnosis of chronic osteomyelitis. For both SPECT and PET, specificity improves considerably when the scintigraphic images are fused with computed tomography. Close cooperation between clinicians and imagers remains the key to early and adequate diagnosis when osteomyelitis is suspected or evaluated. †1 KEYWORDS: computed tomography n hybrid systems n imaging n MRI n nuclear Carlos Pineda , medicine n osteomyelitis n ultrasonography Angelica Pena2, Rolando Espinosa2 & Cristina Osteomyelitis is inflammation of the bone that osteomyelitis. The ideal imaging technique Hernández-Díaz1 is usually due to infection. There are different should have a high sensitivity and specificity; 1Musculoskeletal Ultrasound Department, Instituto Nacional de classification systems to categorize osteomyeli- numerous studies have been published con- Rehabilitacion, Avenida tis. Traditionally, it has been labeled as acute, cerning the accuracy of the various modali- Mexico‑Xochimilco No. -
A Novel Germline Mutation of ADA2 Gene In
International Journal of Molecular Sciences Case Report A Novel Germline Mutation of ADA2 Gene in Two “Discordant” Homozygous Female Twins Affected by Adenosine Deaminase 2 Deficiency: Description of the Bone-Related Phenotype Silvia Vai 1,†, Erika Marin 1,† , Roberta Cosso 2 , Francesco Saettini 3, Sonia Bonanomi 3, Alessandro Cattoni 3, Iacopo Chiodini 1,4 , Luca Persani 1,4 and Alberto Falchetti 1,2,* 1 Department of Endocrine and Metabolic Diseases, IRCCS, Istituto Auxologico Italiano, 20145 Milan, Italy; [email protected] (S.V.); [email protected] (E.M.); [email protected] (I.C.); [email protected] (L.P.) 2 IRCCS, Istituto Auxologico Italiano, San Giuseppe Hospital, 28824 Verbania, Italy; [email protected] 3 Department of Pediatrics, Università degli Studi di Milano-Bicocca, Fondazione MBBM, San Gerardo Hospital, 20100 Monza, Italy; [email protected] (F.S.); [email protected] (S.B.); [email protected] (A.C.) 4 Department of Medical Biotechnologies and Translational Medicine, University of Milan, 20122 Milan, Italy * Correspondence: [email protected] † These authors equally contributed to this paper. Abstract: Adenosine Deaminase 2 Deficiency (DADA2) syndrome is a rare monogenic disorder preva- lently linked to recessive inherited loss of function mutations in the ADA2/CECR1 gene. It consists Citation: Vai, S.; Marin, E.; Cosso, R.; of an immune systemic disease including autoinflammatory vasculopathies, with a frequent onset Saettini, F.; Bonanomi, S.; Cattoni, A.; at -
A Comparison of Imaging Modalities for the Diagnosis of Osteomyelitis
A comparison of imaging modalities for the diagnosis of osteomyelitis Brandon J. Smith1, Grant S. Buchanan2, Franklin D. Shuler2 Author Affiliations: 1. Joan C Edwards School of Medicine, Marshall University, Huntington, West Virginia 2. Marshall University The authors have no financial disclosures to declare and no conflicts of interest to report. Corresponding Author: Brandon J. Smith Marshall University Joan C. Edwards School of Medicine Huntington, West Virginia Email: [email protected] Abstract Osteomyelitis is an increasingly common pathology that often poses a diagnostic challenge to clinicians. Accurate and timely diagnosis is critical to preventing complications that can result in the loss of life or limb. In addition to history, physical exam, and laboratory studies, diagnostic imaging plays an essential role in the diagnostic process. This narrative review article discusses various imaging modalities employed to diagnose osteomyelitis: plain films, computed tomography (CT), magnetic resonance imaging (MRI), ultrasound, bone scintigraphy, and positron emission tomography (PET). Articles were obtained from PubMed and screened for relevance to the topic of diagnostic imaging for osteomyelitis. The authors conclude that plain films are an appropriate first step, as they may reveal osteolytic changes and can help rule out alternative pathology. MRI is often the most appropriate second study, as it is highly sensitive and can detect bone marrow changes within days of an infection. Other studies such as CT, ultrasound, and bone scintigraphy may be useful in patients who cannot undergo MRI. CT is useful for identifying necrotic bone in chronic infections. Ultrasound may be useful in children or those with sickle-cell disease. Bone scintigraphy is particularly useful for vertebral osteomyelitis. -
Elbow Arthroscopy for Osteochondral Lesions in Athletes
SPORTS SURGERY ELBOW ARTHROSCOPY FOR OSTEOCHONDRAL LESIONS IN ATHLETES – Written by Luigi Pederzini et al, Italy Several sports specific injuries of the elbow OSTEOCHONDRAL DEFECT have been well-described. For example, Definition and symptoms the prevalence of medial elbow instability Osteochondral defect is a detachment is high in throwing athletes such as of bone and cartilage in a joint that can Osteochondral baseball players. Similarly, javelin throwers, cause pain. The clinical presentation defect is a volleyball players and tennis players are is characterised by an acute or chronic frequently complaining about elbow pain. onset of symptoms. The majority of detachment of This can be the result of intensive training patients with osteochondral defects of or chronic overuse which results in an the elbow complain of pain. In some bone and cartilage acute or chronic injury. Some of these patients the defect is associated with injuries can be osteochondral lesions such a loose body, and the patient presents in a joint that as osteochondral defects, osteochondrosis clinically with pain, giving way, swelling, can cause pain... of the capitulum humeri or osteochondritis catching, clicking, crepitus and elbow dissecans (OCD). stiffness aggravated by joint movements. characterised Standard X-rays are the initial studies of choice, but sometimes are negative. by an acute or Magnetic resonance imaging (MRI) and 3D computed tomography (CT) scan can chronic onset of be extremely useful in establishing an symptoms. accurate diagnosis and to add in pre- operative planning. 210 OSTEOCHONDROSIS OF CAPITULUM HUMERI (PANNER’S DISEASE) Definition and symptoms Panner’s disease, an ostechondrosis of the capitellum, is a rare disorder that usually affects the dominant elbow in individuals younger than 10 years old. -
SAS Journal of Surgery (SASJS) Panner's Disease: About a Case
SAS Journal of Surgery (SASJS) ISSN 2454-5104 Abbreviated Key Title: SAS J. Surg. ©Scholars Academic and Scientific Publishers (SAS Publishers) A Unit of Scholars Academic and Scientific Society, India Panner's Disease: About A Case Mohamed Ben-Aissi1, Redouane Hani1, Mohammed Kadiri1, Mouad Beqqali-Hassani1, Paolo Palmari2, Moncef Boufettal1, Mohamed Kharmaz1, Moulay Omar Lamrani1, Ahmed El Bardouni1, Mustapha Mahfoud1, Mohamed Saleh Berrada1 1Orthopedic surgery and traumatology department, Ibn Sina Hospital, Rabat, Morocco 2Orthopedic surgery and traumatology departemnt, Robert Ballanger Hospital, Paris, France Abstract: Panner's disease, or osteochondrosis of the lateral condylar nucleus, is an Case Report avascular necrosis leading to subchondral bone loss, it was first described in 1927. We report a case of Panner's disease, which has been evolving since 1 month, in a child of 8 *Corresponding author years sportsman practicing karate. The evolution was favorable with restitution ad Mohamed Ben-Aissi integrum in 8 months after a short anti-inflammatory treatment and a sports rest of 3 months, without any immobilization of the neither elbow nor surgical intervention. Article History Keywords: Osteochondrosis, Panner’s disease, Treatment. Received: 03.10.2018 Accepted: 06.10.2018 INTRODUCTION Published: 30.10.2018 Panner's disease, or osteochondrosis of the lateral condylar nucleus, is an avascular necrosis leading to a loss of subchondral bone fissuring the radio-humeral DOI: articular surfaces, occurring in the hyperspottive child, in connection with an overuse of 10.21276/sasjs.2018.4.10.7 the elbow [1, 2]. It was first described in 1927 by Dane Panner, a Danish orthopedic surgeon [2, 3]. -
Immunopathologic Studies in Relapsing Polychondritis
Immunopathologic Studies in Relapsing Polychondritis Jerome H. Herman, Marie V. Dennis J Clin Invest. 1973;52(3):549-558. https://doi.org/10.1172/JCI107215. Research Article Serial studies have been performed on three patients with relapsing polychondritis in an attempt to define a potential immunopathologic role for degradation constituents of cartilage in the causation and/or perpetuation of the inflammation observed. Crude proteoglycan preparations derived by disruptive and differential centrifugation techniques from human costal cartilage, intact chondrocytes grown as monolayers, their homogenates and products of synthesis provided antigenic material for investigation. Circulating antibody to such antigens could not be detected by immunodiffusion, hemagglutination, immunofluorescence or complement mediated chondrocyte cytotoxicity as assessed by 51Cr release. Similarly, radiolabeled incorporation studies attempting to detect de novo synthesis of such antibody by circulating peripheral blood lymphocytes as assessed by radioimmunodiffusion, immune absorption to neuraminidase treated and untreated chondrocytes and immune coprecipitation were negative. Delayed hypersensitivity to cartilage constituents was studied by peripheral lymphocyte transformation employing [3H]thymidine incorporation and the release of macrophage aggregation factor. Positive results were obtained which correlated with periods of overt disease activity. Similar results were observed in patients with classical rheumatoid arthritis manifesting destructive articular changes. This study suggests that cartilage antigenic components may facilitate perpetuation of cartilage inflammation by cellular immune mechanisms. Find the latest version: https://jci.me/107215/pdf Immunopathologic Studies in Relapsing Polychondritis JERoME H. HERmAN and MARIE V. DENNIS From the Division of Immunology, Department of Internal Medicine, University of Cincinnati Medical Center, Cincinnati, Ohio 45229 A B S T R A C T Serial studies have been performed on as hematologic and serologic disturbances. -
Pediatric MSK Protocols
UT Southwestern Department of Radiology Ankle and Foot Protocols - Last Update 5-18-2015 Protocol Indications Notes Axial Coronal Sagittal Ankle / Midfoot - Routine Ankle Pain Axial = In Relation to Leg "Footprint" (Long Axis to Foot) T1 FSE PD SPAIR T1 FSE Injury, Internal Derangement Coronal = In Relation to Leg (Short Axis Foot) PD SPAIR STIR Talar OCD, Coalition Protocol Indications Notes Axial Coronal Sagittal Ankle / Midfoot - Arthritis Arthritis Axial = In Relation to Leg "Footprint" (Long Axis to Foot) PD SPAIR PD SPAIR T1 FSE Coronal = In Relation to Leg (Short Axis Foot) STIR T1 SPIR POST T1 SPIR POST Protocol Indications Notes Axial Coronal Sagittal Foot - Routine Pain, AVN Axial = In Relation to Leg "Footprint" (Long Axis to Foot) T1 FSE PD FSE T1 FSE Coronal = In Relation to Leg (Short Axis Foot) PD SPAIR PD SPAIR STIR Protocol Indications Notes Axial Coronal Sagittal Foot - Arthritis Arthritis Axial = In Relation to Leg "Footprint" (Long Axis to Foot) T1 FSE PD SPAIR STIR Coronal = In Relation to Leg (Short Axis Foot) PD SPAIR T1 SPIR POST 3D WATS T1 SPIR POST Protocol Indications Notes Axial Coronal Sagittal Great Toe / MTP Joints Turf Toe Smallest Coil Possible (Microcoil if Available) PD FSE T1 FSE PD FSE Sesamoiditis FoV = Mid Metatarsal Through Distal Phalanges PD SPAIR PD SPAIR PD SPAIR Slice thickness = 2-3 mm, 10% gap Axial = In relation to the great toe (short axis foot) Coronal = In relation to the great toe (long axis foot / footprint) Appropriate Coronal Plane for Both Ankle and Foot Imaging UT Southwestern Department -
A Case of Acute Osteomyelitis: an Update on Diagnosis and Treatment
International Journal of Environmental Research and Public Health Review A Case of Acute Osteomyelitis: An Update on Diagnosis and Treatment Elena Chiappini 1,*, Greta Mastrangelo 1 and Simone Lazzeri 2 1 Infectious Disease Unit, Meyer University Hospital, University of Florence, Florence 50100, Italy; [email protected] 2 Orthopedics and Traumatology, Meyer University Hospital, Florence 50100, Italy; [email protected] * Correspondence: elena.chiappini@unifi.it; Tel.: +39-055-566-2830 Academic Editor: Karin Nielsen-Saines Received: 25 February 2016; Accepted: 23 May 2016; Published: 27 May 2016 Abstract: Osteomyelitis in children is a serious disease in children requiring early diagnosis and treatment to minimize the risk of sequelae. Therefore, it is of primary importance to recognize the signs and symptoms at the onset and to properly use the available diagnostic tools. It is important to maintain a high index of suspicion and be aware of the evolving epidemiology and of the emergence of antibiotic resistant and aggressive strains requiring careful monitoring and targeted therapy. Hereby we present an instructive case and review the literature data on diagnosis and treatment. Keywords: acute hematogenous osteomyelitis; children; bone infection; infection biomarkers; osteomyelitis treatment 1. Case Presentation A previously healthy 18-month-old boy presented at the emergency department with left hip pain and a limp following a minor trauma. His mother reported that he had presented fever for three days, cough and rhinitis about 15 days before the trauma, and had been treated with ibuprofen for 7 days (10 mg/kg dose every 8 h, orally) by his physician. The child presented with a limited and painful range of motion of the left hip and could not bear weight on that side. -
Overuse Injuries in Sport: a Comprehensive Overview R
Aicale et al. Journal of Orthopaedic Surgery and Research (2018) 13:309 https://doi.org/10.1186/s13018-018-1017-5 REVIEW Open Access Overuse injuries in sport: a comprehensive overview R. Aicale1*, D. Tarantino1 and N. Maffulli1,2 Abstract Background: The absence of a single, identifiable traumatic cause has been traditionally used as a definition for a causative factor of overuse injury. Excessive loading, insufficient recovery, and underpreparedness can increase injury risk by exposing athletes to relatively large changes in load. The musculoskeletal system, if subjected to excessive stress, can suffer from various types of overuse injuries which may affect the bone, muscles, tendons, and ligaments. Methods: We performed a search (up to March 2018) in the PubMed and Scopus electronic databases to identify the available scientific articles about the pathophysiology and the incidence of overuse sport injuries. For the purposes of our review, we used several combinations of the following keywords: overuse, injury, tendon, tendinopathy, stress fracture, stress reaction, and juvenile osteochondritis dissecans. Results: Overuse tendinopathy induces in the tendon pain and swelling with associated decreased tolerance to exercise and various types of tendon degeneration. Poor training technique and a variety of risk factors may predispose athletes to stress reactions that may be interpreted as possible precursors of stress fractures. A frequent cause of pain in adolescents is juvenile osteochondritis dissecans (JOCD), which is characterized by delamination and localized necrosis of the subchondral bone, with or without the involvement of articular cartilage. The purpose of this compressive review is to give an overview of overuse injuries in sport by describing the theoretical foundations of these conditions that may predispose to the development of tendinopathy, stress fractures, stress reactions, and juvenile osteochondritis dissecans and the implication that these pathologies may have in their management. -
Vitamin D and Bone Health
1150 17th Street NW Suite 850 Washington, D.C. 200361 Bone Basics 1 (800) 231-4222 TEL ©National Osteoporosis Foundation 2013 1 (202) 223-2237 FAX www.nof.org Vitamin D and Bone Health Vitamin D plays an important role in protecting your bones. It may also help prevent other conditions including certain cancers. Your body requires vitamin D to absorb calcium. Children need vitamin D to build strong bones, and adults need it to keep bones strong and healthy. When people do not get enough vitamin D, they can lose bone. Studies show that people with low levels of vitamin D have lower bone density or bone mass. They are also more likely to break bones when they are older. Severe vitamin D deficiency is rare in the United States. It can cause a disease known as osteomalacia where the bones become soft. In children, this is known as rickets. These are both different conditions from osteoporosis. NOF Recommendations for Vitamin D The National Osteoporosis Foundation (NOF) recommends that adults under age 50 get 400-800 International Units (IU) of vitamin D every day, and that adults age 50 and older get 800-1,000 IU of vitamin D every day. Some people need more vitamin D. There are two types of vitamin D supplements. They are vitamin D2 and vitamin D3. Previous research suggested that vitamin D3 was a better choice than vitamin D2. However, more recent studies show that vitamin D3 and vitamin D2 are fairly equal for bone health. Vitamin D3 is also called cholecalciferol. Vitamin D2 is also called ergocalciferol. -
An Unusual Cause of Back Pain in Osteoporosis: Lessons from a Spinal Lesion
Ann Rheum Dis 1999;58:327–331 327 MASTERCLASS Series editor: John Axford Ann Rheum Dis: first published as 10.1136/ard.58.6.327 on 1 June 1999. Downloaded from An unusual cause of back pain in osteoporosis: lessons from a spinal lesion S Venkatachalam, Elaine Dennison, Madeleine Sampson, Peter Hockey, MIDCawley, Cyrus Cooper Case report A 77 year old woman was admitted with a three month history of worsening back pain, malaise, and anorexia. On direct questioning, she reported that she had suVered from back pain for four years. The thoracolumbar radiograph four years earlier showed T6/7 vertebral collapse, mild scoliosis, and degenerative change of the lumbar spine (fig 1); but other investigations at that time including the eryth- rocyte sedimentation rate (ESR) and protein electophoresis were normal. Bone mineral density then was 0.914 g/cm2 (T score = −2.4) at the lumbar spine, 0.776 g/cm2 (T score = −1.8) at the right femoral neck and 0.738 g/cm2 (T score = −1.7) at the left femoral neck. She was given cyclical etidronate after this vertebral collapse as she had suVered a previous fragility fracture of the left wrist. On admission, she was afebrile, but general examination was remarkable for pallor, dental http://ard.bmj.com/ caries, and cellulitis of the left leg. A pansysto- lic murmur was heard at the cardiac apex on auscultation; there were no other signs of bac- terial endocarditis. She had kyphoscoliosis and there was diVuse tenderness of the thoraco- lumbar spine. Her neurological examination was unremarkable. on September 29, 2021 by guest.