Diaphysis Of Long Bones Research Articles

Ribbing disease of the femur: a rare entity.

Ribbing disease is a rare benign bone dysplasia characterized by progressive cortical thickening of the diaphyses of long bones in adult patients. The literature provides limited insight into its natural radiological progression and anatomical distribution. Single-bone involvement is particularly uncommon, with prior cases exclusively affecting the tibia. This case report outlines the unique presentation of Ribbing disease in a 20-year-old male, localized to the left femur. The patient's history revealed intermittent left thigh pain persisting for more than 2 years, with no identifiable triggers or relief factors. Early radiographic imaging revealed no significant abnormalities, but subsequent imaging, conducted 1 year after the initial presentation, revealed focal fusiform widening and cortical thickening of the mid-diaphysis of the left femur. MRI further revealed circumferential cortical thickening with bone marrow edema, corroborated by CT, which revealed cortical thickening with near-complete obliteration of the intramedullary cavity. The patient was managed with nonsteroidal anti-inflammatory drugs and activity modifications. Misinterpretation of the radiographic findings of the osteoid osteoma led the patient to undergo radiofrequency ablation. This case highlights the challenges in diagnosing Ribbing disease and emphasizes the importance of considering it in the differential diagnosis of chronic limb pain. Continued reporting of cases contributes to enhancing our understanding and management of this rare skeletal dysplasia.

Intra-articular Osteoid Osteomas: Imaging Manifestations and Mimics.

Osteoid osteoma (OO) is the third most prevalent benign bone neoplasm in children. Although it predominantly affects the diaphysis of long bones, OO can assume an intra-articular location in the epiphysis or the intracapsular portions of bones. The most common location of intra-articular OO is the hip joint. The presentation of intra-articular OOs often poses a diagnostic enigma, both from clinical and radiologic perspectives. Initial symptoms are often vague and nonspecific, characterized by joint pain, stiffness, and limited range of motion, which frequently contributes to a delayed diagnosis. Radiographic findings range from normal to a subtle sclerotic focus, which may or may not have a lucent nidus. In contrast to their extra-articular counterparts, intra-articular lesions have distinct features at MRI, including synovitis, joint effusion, and bone marrow edema-like signal intensity. While CT remains the standard for identifying the nidus, even CT may be inadequate in visualizing it in some cases, necessitating the use of bone scintigraphy or fluorine 18-labeled sodium fluoride PET/CT for definitive diagnosis. Radiologists frequently play a pivotal role in suggesting this diagnosis. However, familiarity with the unique imaging attributes of intra-articular OO is key to this endeavor. Awareness of these distinctive imaging findings of intra-articular OO is crucial for avoiding diagnostic delay, ensuring timely intervention, and preventing unnecessary procedures or surgeries resulting from a misdiagnosis. The authors highlight and illustrate the different manifestations of intra-articular OO as compared with the more common extra-articular lesions with respect to clinical presentation and imaging findings. ©RSNA, 2024 Supplemental material is available for this article.

Treatment of non-hypertrophic pseudoarthrosis of long bones with a Tissue Engineered Product loaded with autologous bone marrow-derived Mesenchymal Stromal Cells: Results from a phase IIa, prospective, randomized, parallel, pilot clinical trial comparing to iliac crest autograft

BackgroundAtrophic pseudoarthrosis is a serious complication with an incidence of 5–10 % of bone fractures located in the diaphysis of long bones. Standard treatments involve aggressive surgical procedures and re-interventions requiring the use of autografts from the iliac crest as a source of bone-forming biological activity (Standard of Care, SoC). In this context, regenerative ex vivo expanded osteogenic cell-based medicines could be of interest. Particularly, Mesenchymal Stromal Cells (MSC) offer new prospects to promote bone tissue repair in pseudoarthrosis by providing biological activity in an osteoconductive and osteoinductive environment. MethodsWe conducted a phase IIa, prospective, randomised, parallel, two-arms, open-label with blinded assessor pilot clinical trial to compare SoC vs. a tissue-engineered product (TEP), composed of autologous bone marrow (BM)-derived MSCs loaded onto allogeneic decellularised, lyophilised spongy bone cubes, in a cohort of 20 patients with non-hypertrophic pseudoarthrosis of long bones. Patients were followed up for 12 months. Radiological bone healing was evaluated by standard X-ray and computed tomography (CT) scanning. Quality of life was measured using the EUROQOL-5D questionnaire. ResultsTen patients were randomized to TEP and 10 to SoC with iliac crest autograft. Manufacturing of TEP was feasible and reproducibly achieved. TEP implantation in the bone defect was successful in all cases and none of the 36 adverse events (AE) reported were related to the treatment. Efficacy analyses were performed in the Full Analysis Set (FAS) population, which included 17 patients after 3 patients withdrew from the study. The degree of consolidation, estimated by measuring Hounsfield units (HU) on CT, showed no significant differences between the two treatment groups at 12 months post treatment (main efficacy variable) (p = 0.4835) or at 6 months. ConclusionsAlthough only a small number of patients were included in our study, it is notable that no significant differences were observed between the experimental treatment and SoC, thus suggesting TEP as an alternative where autograft is not available or contraindicated.

Long-term follow up of a patient with Camurati–Engelmann disease: Case report and literature review

Camurati-Engelmann disease is an exceedingly rare genetic disorder characterized by distinct radiological features that differentiate it from other osteo-dysplastic diseases. A 52-year-old woman presented with a 20-year history of right hip pain with recent exacerbation over 18 months. Diagnostic evaluation included bone scintigraphy, radiography, and blood tests. Bone scintigraphy revealed symmetrically increased uptake throughout the diaphysis of long bones and skull, while radiography showed cortical thickening and coarse trabeculation with bilateral enlargement of multiple bones. These findings indicated diffuse diaphyseal sclerosis, consistent with Camurati–Engelmann disease. She was managed with analgesics, anti-inflammatory agents, and intermittent intralesional steroid injections for over 7 years, during which no additional radiographic changes were noted. Therefore, we aim to report this case and conduct a literature review.

Rare coexistence of multiple osteochondromas and solitary osteoid osteoma: A case report

Rare coexistence of multiple osteochondromas and solitary osteoid osteoma: A case report

Imaging features at the time of diagnosis of osteosarcoma and Ewing sarcoma in children

IntroductionOsteosarcoma and Ewing sarcoma are the most frequent malignant bone tumours in children. The aim of this study is to characterize clinical and radiological features at presentation of a large cohort of children with these diseases, radiological findings useful to differentiate them and the main prognostic factors. Material and methodsRetrospective analysis of clinical and imaging findings of 83 children diagnosed and treated of Ewing sarcoma and osteosarcoma in a paediatric hospital during a period of 10 years. ResultsBoth tumours showed aggressive radiological features such as permeative or moth-eaten margins, cortical disruption, discontinuous periosteal reaction, intense contrast uptake, tumoral necrosis and soft-tissue component. They differed in their location, osseous matrix and gender predilection. Osteosarcoma occurred more frequently in the metaphysis of long bones (62%) with a blastic appearance (53%). Ewing sarcoma showed a predilection for male patients (71%), occurred in flat bones (42%) and in the diaphysis of long bones (58%) with a lytic appearance (82%). 29% of children presented with primary metastasis, most frequently located in the lungs. Survival rates were 78% in OS and 76% in Ewing sarcoma. Metastatic disease, aggressive radiological features and low percentage of tumoral necrosis after neoadjuvant chemotherapy were associated with poor prognosis (p < 0.05). ConclusionsImaging can confidently diagnose malignant paediatric bone tumours in children and may differentiate Ewing sarcoma from osteosarcoma, based on gender, location and appearance of the neoplasm. Metastatic disease, presence of aggressive radiological features and low percentage of tumoral necrosis after neoadjuvant chemotherapy were associated with poor prognosis.

Ghosal Hematodiaphyseal Dysplasia: Implications of Late Diagnosis and Unusual Presentation in Adults

Ghosal Hematodiaphyseal Dysplasia (GHDD) is a rare autosomal recessive disorder characterized by bone modeling failure, resulting in thickening of bone cortices with predominant diaphyseal involvement and responsive anemia to steroids. Late diagnosis of GHDD in adulthood can lead to significant morbidity and suboptimal response to steroids. Moreover, GHDD often mimics more common hematological disorders like myelodysplastic syndrome and myelofibrosis, leading to treatments such as transfusions, splenectomy, and hematopoietic stem cell transplantation. Early diagnosis is critical to enable the patient to receive the appropriate treatment. We present a case series of three Indian patients from different families with genetically proven GHDD. Despite experiencing symptoms from early childhood, all patients were diagnosed in adulthood. None of them were born out of a consanguineous marriage . Two of them, aged 43 and 56, are the oldest reported GHDD patients to date. They initiated steroid treatment in their 5th and 6th decades of life, respectively. Unlike previously reported cases, these two patients required additional drugs like Thalidomide along with steroids, and their response to treatment was not as rapid. The first patient, a 43-year-old male, had a history of anemia since childhood and became transfusion dependent after 15 years of age. He developed bicytopenia and later pancytopenia with hypocellular bone marrow , along with splenohepatomegaly and extramedullary hematopoiesis in the paravertebral and presacral areas, a novel finding in GHDD cases. Whole exome sequencing revealed a missense mutation in the TBXA2 gene. The second patient, a 56-year-old male, had a history of anemia since childhood and underwent splenectomy at 46 due to massive splenomegaly and transfusion dependency. However, his transfusion dependency persisted, and bone marrow biopsy suggested myelofibrosis. However he was negativefor myeloid mutations including JAK2. Subsequently, genetic testing revealed a homozygous missense mutation in the TBXAS1 gene. He also developed paraplegia and bladder incontinence, attributed to extramedullary hematopoiesis, which improved with steroid treatment The third patient a 23 year old man with history of anemia, lower limb tenderness and ecchymosis at 14 months of age. Evaluation then had shown hyperostosis of diaphysis of long bones of lower limbs with sparing of metaphysis and bicytopenia. Was on regular transfusions till 9 years. Re-evaluation with bone marrow studies at 9 years revealed a varying cellular marrow with dysplastic megakaryocytes and diagnosed as pediatric myelodysplatic syndrome ,He was on steroids till 13 years and he did not require further transfusions.He stopped steroids for 1 year following which there was a fall in Hb levels and recurrence of pain in both lower limbs with inability to squat. In view of history of steroid responsive anemia and thickening of diaphysis in X-rays GHDD was suspected and confirmed by genetic testing. He was restarted on steroids and there was a good response to steroids within 4 week with normalisation of hemoglobin levels . Late diagnosis of GHDD in adulthood can lead to severe complications and suboptimal treatment response. These cases highlight the importance of early diagnosis to prevent unnecessary interventions and improve patient outcomes. Unusual presentations, like extramedullary hematopoiesis, can further complicate the diagnostic process. Clinicians should maintain a high index of suspicion for GHDD in cases of refractory anemia or myelofibrosis-like features, especially in adults with an earlier history of anemia. Early recognition and appropriate management are crucial to mitigate morbidity and improve patients' quality of life

ANATOMICAL STUDY OF NUTRIENT FORAMINA IN LONG BONES OF HUMAN UPPER AND LOWER LIMBS

Aims and Objectives: The objectives of the study are as follows: (1) To determine the number, location, position, and direction of nutrient foramina in the shaft of long bones. (2) To determine the foraminal index of the long bones. Methods: This was a cross-sectional study, undertaken on dry cadaveric human long bones of unknown age and sex from the Department of Anatomy, M.S. Ramaiah Medical College, Bangalore. The duration of study was 2 years. In this study, 350 human long bones which include the clavicle, humerus, radius, and ulna from the upper extremity; femur, tibia, and fibula from the lower extremity were examined in detail for the number, position, location, and directions of the nutrient foramen. For statistical purposes, p&lt;0.05 was taken as significant. Results: All the bones had single nutrient foramina and a higher percentage of double nutrient foramina was seen in femur. The most common position was the middle one-third of the shaft and the surface distribution was different in different bones. All the bones had the nutrient foramina, which were directed away from the growing end. The mean foraminal index for clavicle, humerus, radius, and ulna was 52.85±9.24, 56.92±6.57, 34.80±6.07, and 36.0±5.85, respectively. Mean foraminal index for femur, tibia, and fibula was 43.54±10.32, 32.37±3.1, and 51.68±9.77. Conclusion: Knowledge of nutrient foramina of long bones is crucial for orthopedic surgery, forensic identification, obtaining vascularized bone grafts, and treating trauma or malignant bone conditions.

Neanderthal use of animal bones as retouchers at the Level XV of the Sopeña rock shelter (Asturias, northern Spain)

AbstractBone retouchers are a technological appliance used to perfect lithic tools efficiently. They are most frequently found in Middle Palaeolithic contexts. In this paper, we present a group of bone retouchers from the Mousterian Level XV of the Sopeña rock shelter (Asturias, Spain). The bone part preferred was the middle part of the shaft of long bones: Most of them are on metacarpals, followed by metatarsals, femurs, and tibias. The most used animal species is adult red deer. These retouchers have either one, two, or three active areas, with a central disposition. The impact marks are close together; oval pits are common, as well as straight, sinuous, and irregular grooves. The surfaces on these marks appear pitted and scaled. There are indications that the bones employed were relatively fresh. The length, width, and thickness of those bone fragments seem to be the determining factor when choosing them to be used as retouchers in the process of finishing lithic tools. The formats documented in Sopeña Level XV are similar to those found in other Mousterian sites in Iberia, although there is a certain variability regarding their width. The Neanderthals of Sopeña acquired the raw material for these retouchers from the faunal remains generated in the process of butchering and eating the animals. These retouchers were used as implements to perfect lithic tools made mainly on quartzite, and they were used repeatedly and maybe for a long time.

Histological examination of biopsy material of animal bone tissue using osteoplastic biocomposite coating of implants accelerating consolidation

In modern veterinary and humane medicine, the issue of optimizing reparative osteogenesis, aimed at accelerating consolidation, preventing bacterial infection, a stabilization method, as well as activating osteoinductive and osteoconductive properties, is quite acute. This can be achieved using osteoplastic biocomposite coatings on implants. The significant role of such components as hydroxyapatite, methyluracil, amoxicillin in metabolic processes aimed at regenerative, antibacterial and metabolic processes of osteogenesis has been determined. The group of authors set the goal of the study: to study, using a histological method, the quantitative and qualitative aspects of fusion of a fracture of the middle third of the diaphysis of long tubular bones (radius), in an experiment, using the developed biocomposite coating. The material for this study was histotopographic preparations of bone regenerates obtained on day 35 using a needle for trephine biopsy of bone tissue, after consolidation of the simulated fracture was established using implants with the developed osteoplastic coating. As a result of the study of histotopographic materials using 3.5% and 5% biocomposite coating to accelerate consolidation, in the experimental groups there is no amount of the developed composite, which indicates biocompatibility with complete biointegration without allergenic and cytostatic effects.Throughout the experiment, no significant difference was found between the experimental groups; in each group, restored microcirculation was visualized with many physiological Haversian canals with blood vessels, the nervous system and adequate tissue trophism. Histological examination of the formed bone regenerate is necessary to confirm the completed accelerated process of osteogenesis in small non-productive animals.

Diagnóstico inicial del osteosarcoma y sarcoma de Ewing en la edad pediátrica

IntroductionOsteosarcoma and Ewing sarcoma are the most frequent malignant bone tumours in children. The aim of this study is to characterize clinical and radiological features at presentation of a large cohort of children with these diseases, radiological findings useful to differentiate them and the main prognostic factors. Material and methodsRetrospective analysis of clinical and imaging findings of 83 children diagnosed and treated of Ewing sarcoma and osteosarcoma in a paediatric hospital during a period of 10years. ResultsBoth tumours showed aggressive radiological features such as permeative or moth-eaten margins, cortical disruption, discontinuous periosteal reaction, intense contrast uptake, tumoral necrosis and soft-tissue component. They differed in their location, osseous matrix and gender predilection. Osteosarcoma occurred more frequently in the metaphysis of long bones (62%) with a blastic appearance (53%). Ewing sarcoma showed a predilection for male patients (71%), occurred in flat bones (42%) and in the diaphysis of long bones (58%) with a lytic appearance (82%). 29% of children presented with metastases at diagnosis, most frequently located in the lungs. Survival rates were 78% in osteosarcoma and 76% in Ewing sarcoma. Metastatic disease, aggressive radiological features and low percentage of tumoral necrosis after neoadjuvant chemotherapy were associated with poor prognosis (P<.05). ConclusionsImaging can confidently diagnose malignant paediatric bone tumours in children and may differentiate Ewing sarcoma from osteosarcoma, based on gender, location and appearance of the neoplasm. Metastatic disease, presence of aggressive radiological features and low percentage of tumoral necrosis after neoadjuvant chemotherapy were associated with poor prognosis.

Macromorphometric Analysis of Metastatic Lesions in Bones due to Breast Cancer: Contribution to Human Identification.

This study aimed to report the metastatic lesions observed in identified skeletons whose deaths were caused by breast cancer complications to provide information and evidence that can be used in cases of human identification forensics. The research was conducted at the Centre for Forensic Anthropology Studies of the Faculty of Odontology of the University of Pernambuco (CEAF/FOP/UPE), Recife, Brazil. The data bank of the CEAF/FOP/UPE was searched for skeletons with the cause of death reported as due to breast cancer, resulting in five cases. The skeletons were arranged in anatomical positions and macroscopically inspected to register, describe and measure the lesions present to establish the macroscopic patterns of bone destruction caused by breast cancer. Of the five skeletons, two presented metastatic lesions. In the first, lesions were observed in a disseminated form, affecting almost all bones. The lesions were predominantly osteolytic and ellipsoid-shaped; however, mixed and circular lesions were also found. The second skeleton presented four lesions of mixed characteristics. The finding of bone lesions in the macroscopic analysis of skeletons may reveal a more advanced stage of the neoplasm, as well as its dissemination in areas little rich in hematopoietic tissue, such as the diaphyses of long bones, a situation widely observed in the first reported case. Besides providing more excellent knowledge of their macroscopic presentation, bone metastatic lesions may act as an individualizing factor in human identification cases, narrowing the sample of possible victims.

Surgical repair of large segmental bone loss with the induced membrane technique: patient reported outcomes are comparable to nonunions without bone loss.

To compare the outcomes of patients with segmental bone loss who underwent repair with the induced membrane technique (IMT) with a matched cohort of nonunion fractures without bone loss. Retrospective analysis on prospectively collected data. Academic medical center. Two cohorts of patients, those with upper and lower extremity diaphyseal large segmental bone loss and those with ununited fractures, were enrolled prospectively between 2013 and 2020. Sixteen patients who underwent repair of 17 extremities with segmental diaphyseal or meta-diaphyseal bone defects treated with the induced membrane technique were identified, and matched with 17 patients who were treated for 17 fracture nonunions treated without an induced membrane. Sixteen of the bone defects treated with the induced membrane technique were due to acute bone loss, and the other was a chronic aseptic nonunion. Healing rate, time to union, functional outcome scores using the Short Musculoskeletal Functional Assessment (SMFA) and pain assessed by the Visual Analog Scale (VAS). The initial average defect size for patients treated with the induced membrane technique was 8.85cm. Mean follow-up times were similar with 17.06 ± 10.13months for patients treated with the IMT, and 20.35 ± 16.68. months for patients treated without the technique. Complete union was achieved in 15/17 (88.2%) of segmental bone loss cases treated with the IMT and 17/17 (100%) of cases repaired without the technique at the latest follow up visit. The average time to union for patients treated with the induced membrane technique was 13.0 ± 8.4months and 9.64 ± 4.7months for the matched cohort. There were no significant differences in reported outcomes measured by the SMFA or VAS. Patients treated with the induced membrane technique required more revision surgeries than those not treated with an induced membrane. Outcomes following treatment of acute bone loss from the diaphysis of long bones with the induced membrane technique produces clinical and radiographic outcomes similar to those of long bone fracture nonunions without bone loss that go on to heal. III.

Puberty in a Mesozoic reptile.

The histology of bone can be preserved virtually unaltered for hundreds of millions of years in fossils from all environments and all vertebrate taxa, giving rise to the flourishing field of paleohistology.1 The shafts of long bones are formed by the apposition of periosteal bone tissue, similar to the growth of wood, and preserve, an often cyclical, record of the growth of the individual and events in its life history. One such event is sexual maturation or puberty, during which hormonal changes transform the juvenile into a sexually mature adult. Puberty has been well studied in humans and some other living vertebrates. Here, we describe puberty in Keichousaurus, a small sexually dimorphic and live-bearing marine reptile from Middle Triassic rocks of SW China, about 240 million years old. Using a combination of bone histology and morphology, we detected puberty2 as one of the four life stages (the others being fetus, juvenile, and adult). Adult Keichousaurus males have a more robust humerus than females, with pronounced muscle attachment sites and a triangular shaft cross section. Midshaft sections of the humeri of the males show the transition from the rounded juvenile cross section to the triangular adult cross section, as reflected in the contour of the growth marks. This shape change is produced by differential bone apposition of the periosteum, presumably triggered by sex hormones, as in humans,3 and influenced by changes in loading regime during puberty. This is the first report of puberty in a fossil amniote.

AGGRESSIVE MANAGEMENT OF SURFACE ANEURYSMAL BONE CYST: A CASE REPORT

Aneurysmal bone cyst originating from the surface of the bone is an unusual subtype. Surface ABCs have a predilection for diaphysis of long tubular bones. Radiologically it may mimic telangiectatic osteosarcoma which can be differentiated on the basis of histology. We present here a case of 17 year old male with proximal humerus surface ABC with extensive cortical breach. Clinico-radiographic presentation of the patient was more aggressive than conventional ABC. Plain radiograph demonstrated a permeative type of destructive pattern and the cross-sectional imaging demonstrated extensive cortical breach and intramedullary spread. MR Imaging suggested that intramedullary spread was more extensive in dimension as compared to the subperiosteal component. Biopsy was suggestive of ABC. Preoperatively selective arterial embolisation was done. Management was done by wide en-bloc resection and treatment of resected segment with liquid nitrogen by free freezing method followed by reimplantation and internal xation with a proximal humerus plate along-with bular strut graft. Patient on follow up after 5 months post operatively was able to perform his activities of daily living. Most cases reported in literature were managed by curettage and bone grafting. Literature for aggressive management of surface ABC's is sparse with no literature available regarding the use of liquid nitrogen in its management

Study on the morphology of nutrient foramens in humerus and its surgical implications

Long bones have large or small foramina for the entry of the blood-vessels. Such foramens are known as the nutrient foramina which are large in the shafts of the largest long bones. Such foramina lead to nutrient canals through which the blood vessels enters the bone supplying the medullary cavity. The site of entry and the direction of the nutrient foramina are almost constant and are directed away from the growing ends. The nutrient artery that passes through these foramina are the main source of blood supply to humerus and is particularly important during growth period in the embryo and foetus and also during the early stage of ossification. a. To determine the direction of nutrient foramen in humerus. b. To determine the number of nutrient foramen of humerus. c. To determine the location of nutrient foramen of humerus. The study was conducted on 120 adult humeri that were obtained from the Department of Anatomy, Sri Devaraj Urs medical college, Kolar, karnataka. Bones were segregated into right and left and observed for the direction, number and location of nutrient foramens in humerus In the present study, the percentage of humerus bones with one nutrient foramen was 87% and two foramina was 9% and absent in 4%. Single nutrient foramen on right humerus bones was 92% and left side was 4% and absent in 4%. Single nutrient foramen on left humerus bones was 83% and left side was 13% and absent in 4%. 59% of the bones had nutrient foramen that were located on the medial border. Following which, the order was Anteromedial surface in (25%), Lateral border in (5%), Posterior surface in (3%) and anterior border in (3%). 81% had the nutrient foramen that was located in the middle 1/3rd, 11% at the junction between middle 1/3rd and lower 1/3rd and 3% in the lower 1/3rd of humerus. All the nutrient foramina were directed towards the elbow joint and was away from the growing end as per the law of ossification. Nutrient artery is the main source of blood supply to long bones that enters through the nutrient foramen. The surgical and anatomical knowledge of nutrient foramen in humerus or any long bone is important for orthopaedic surgeons and general surgeons during surgical procedures on the humerus such as vascular surgeries, bone grafting and transplantation.

Intra-articular Osteoid Osteoma of the Olecranon Fossa

Osteoid osteomas are benign primary bone lesions characterized by a central nidus with surrounding reactive sclerosis, classically presenting as worsening nocturnal pain relieved by non-steroidal anti-inflammatory medications (NSAIDs). These most commonly occur in intracortical bone and the diaphysis of long bones. As a rare entity, intra-articular osteoid osteomas present unusually, often resulting in a delayed or incorrect diagnosis. We present a case of an intra-articular osteoid osteoma, emphasizing the importance of MRI in aiding diagnosis in this atypical location.

Benefits of diffusion-weighted imaging in pediatric acute osteoarticular infections

BackgroundContrast-enhanced magnetic resonance imaging (MRI) is recommended for the diagnosis of acute osteoarticular infections in children. Diffusion-weighted imaging (DWI) may be an alternative to the injection of gadolinium.ObjectiveTo evaluate unenhanced MRI with DWI in comparison to contrast-enhanced MRI for the diagnostic work-up of acute osteoarticular infections in children.Materials and methodsThis retrospective study included 36 children (age range: 7 months-12 years) with extra-spinal osteoarticular infections and MRI performed within 24 h of admission. MRI protocol included short tau inversion recovery (STIR), water-only T2 Dixon, T1, DWI, and gadolinium-enhanced T1 sequences. Two readers reviewed three sets of images: 1) unenhanced sequences, 2) unenhanced sequences with DWI and 3) unenhanced followed by contrast-enhanced sequences (reference standard). Sensitivity and specificity of sets 1 and 2 were compared to set 3 and assessed to identify osteoarticular infections: osteomyelitis (long bones, metaphyseal equivalents), septic arthritis and abscess (soft tissues, bone).ResultsAll 14 cases of osteomyelitis in the metaphyses and diaphyses of long bones and all 27 cases of septic arthritis were identified by unenhanced sequences, but 4/16 abscesses were missed. For the diagnosis of abscess, DWI increased sensitivity to 100%. Among the 18 osteomyelitis in metaphyseal equivalents, 4 femoral head chondroepiphyses were identified by contrast-enhanced sequences only.ConclusionMRI for suspected pediatric acute osteoarticular infections is the best diagnostic modality to guide patient management. An unenhanced protocol with DWI may be an alternative to a contrast-based protocol, even in the presence of an abscess. However, gadolinium remains necessary to assess for chondroepiphyseal involvement of the femoral head.

Clinical characteristics and identification of a novel TGFB1 variant in three unrelated Chinese families with Camurati-Engelmann disease.

BackgroundTo investigate the clinical characteristics and molecular diagnosis of Camurati‐Engelmann disease (CAEND) in Chinese individuals.MethodsWe recruited six patients aged 14 to 45 years in three unrelated families with CAEND, including five females and one male. Clinical manifestations, biochemical tests, and radiographic examinations were analyzed. The TGFB1 gene variants were further identified by Sanger sequencing. In addition, one female patient was followed up for 5 years.ResultsThe onset age of the patients ranged from 1 to 6 years. All of them had family histories and consisted of an autosomal dominant inheritance pattern. Gait disturbance, fatigue, progressive bone pain, muscle atrophy, and weakness were the main complaints. Laboratory examinations revealed that the inflammatory markers were at high levels, in addition to the increased bone metabolism indicators. The thickened diaphysis of long bones and the narrowed medullary cavity was observed by radiography. Furthermore, bone scintigraphy detected abnormal symmetrical radioactive concentrations in the affected regions of bone. Sanger sequencing identified a missense heterozygous variant in exon 4 of the TGFB1 gene in families 1 and 2, resulting in Arg218Cys, which confirmed CAEND. Moreover, one novel variant c.669C > G in exon 4 of the TGFB1 gene harboring Cys223Trp was detected in family 3. Subsequent bioinformatics software predicted that the novel variant was pathogenic. Of interest, III:2 in family 3 experienced heart valve defects and tachycardia at birth, which had never been reported in CAEND patients before. Moreover, the response to drug treatment is also full of contradictions and is worthy of further study.ConclusionBesides the typical CAEND manifestations, the new phenotypic characteristics of tachycardia and heart valve defects were first reported in one woman carrying the novel variant p.Cys223Trp in TGFB1 the gene. In addition, we demonstrated that increased bone metabolism indicators and inflammatory markers may possess auxiliary diagnosis for CAEND.

A Pain in the Neck: An Adolescent with Neck Pain.

A Pain in the Neck: An Adolescent with Neck Pain.