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1.
Surg Radiol Anat ; 46(4): 407-412, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38459981

RESUMO

PURPOSE: The present study aims to report the arthroscopic, radiological and clinical appearance of a rare anatomical variation of a hypertrophied medial parapatellar plica with its response to arthroscopic treatment. CASE PRESENTATION: A 14-year-old female handball athlete presented with a history of left knee injury during her participation in a handball training session and subsequent locked knee at 20º flexion. Tenderness was located at the medial joint line. Plain radiographs of the injured knee were normal. The magnetic resonance imaging revealed a hypertrophic medial parapatellar plica and a horizontal tear of the medial meniscus. A standard knee arthroscopy was performed. An extremely hypertrophied medial plica was identified, covering a great part of the medial femoral condyle extending up to the femoral trochlea. Distally, it was attached into the inter-meniscal ligament. The plica was excised and the medial meniscus tear was repaired. At 1-month post-operatively, the patient was completely asymptomatic and at 3-months she returned to her weekly training routine. CONCLUSIONS: This study presented a rare anatomical variation of a hypertrophied medial parapatellar plica with atypical course in the medial patellofemoral compartment and insertion into the inter-meniscal ligament. In combination with a medial meniscus tear led to a locked knee. Arthroscopic medial meniscus repair and plica excision resulted in complete resolution of symptoms.


Assuntos
Artropatias , Articulação do Joelho , Feminino , Humanos , Adolescente , Articulação do Joelho/diagnóstico por imagem , Articulação do Joelho/cirurgia , Meniscos Tibiais , Artroscopia/métodos , Artropatias/diagnóstico , Ligamentos/patologia , Imageamento por Ressonância Magnética , Atletas
2.
Vet Clin Pathol ; 53(1): 80-84, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38320970

RESUMO

A 2-year-old neutered male bullmastiff dog was presented with chronic left hind limb lameness. Physical examination revealed left stifle effusion and medial buttress without cranial tibial thrust. Radiographs showed joint effusion and new bone formation at the patella apex. Magnetic resonance imaging showed increased synovial fluid, widening of the joint space, abnormal infrapatellar fat body and thinning of the cranial cruciate ligament. Synoviocentesis and cytologic evaluation of synovial fluid revealed marked mononuclear inflammation with abundant fatty tissue, suggesting synovial lipomatosis in conjunction with the imaging findings. The disease was confirmed histologically after sampling the lesion during arthrotomy. Synovial lipomatosis, characterized by extensive synovial adipose tissue proliferation of the synovial membrane, is a rare "tumor-like" disorder that usually affects the stifle. Although the etiology remains unclear, joint trauma, inflammation, instability, and lipid abnormalities have been proposed as causes. Inflammatory factors may promote synoviocyte and adipocyte hyperplasia that perpetuate the process. Surgical removal may be suggested to eliminate triggers and prevent future recurrences. The report provides the first cytological description of adipocytes in synovial fluid associated with the diagnosis of synovial lipomatosis in dogs. This case report underscores the potential effectiveness of cytologic analysis of synovial fluid smears, in combination with magnetic resonance imaging (MRI), for diagnosing this condition and reducing complications associated with arthrotomy for sampling purposes. Additionally, the case highlights that synovial lipomatosis should be considered as a potential differential diagnosis for synovial masses in dogs. Further cases are needed to validate these observations in veterinary medicine.


Assuntos
Doenças do Cão , Artropatias , Lipomatose , Masculino , Cães , Animais , Líquido Sinovial , Artropatias/diagnóstico , Artropatias/veterinária , Joelho de Quadrúpedes/patologia , Lipomatose/veterinária , Adipócitos/patologia , Inflamação/veterinária , Doenças do Cão/patologia
3.
Joint Bone Spine ; 91(3): 105692, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38246575

RESUMO

Joint diseases affect hundreds of millions of people worldwide, and their prevalence is constantly increasing. To date, despite recent advances in the development of therapeutic options for most rheumatic conditions, a significant proportion of patients still lack efficient disease management, considerably impacting their quality of life. Through the spectrum of rheumatoid arthritis (RA), psoriatic arthritis (PsA), and osteoarthritis (OA) as quintessential and common rheumatic diseases, this review first provides an overview of their epidemiological and clinical features before exploring how the better definition of clinical phenotypes has helped their clinical management. It then discusses the recent progress in understanding the diversity of endotypes underlying disease phenotypes. Finally, this review highlights the current challenges of implementing molecular endotypes towards the personalized management of RA, PsA and OA patients in the future.


Assuntos
Artrite Psoriásica , Osteoartrite , Fenótipo , Medicina de Precisão , Humanos , Medicina de Precisão/métodos , Osteoartrite/terapia , Osteoartrite/genética , Artrite Psoriásica/genética , Artrite Psoriásica/diagnóstico , Artrite Psoriásica/terapia , Artrite Reumatoide/genética , Artrite Reumatoide/diagnóstico , Artrite Reumatoide/classificação , Artrite Reumatoide/imunologia , Artrite Reumatoide/terapia , Doença Crônica , Masculino , Feminino , Artropatias/genética , Artropatias/diagnóstico , Artropatias/terapia
4.
J ISAKOS ; 9(2): 234-239, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-37923144

RESUMO

Stiffness is a clinical disorder that affects the patient's function of the entire upper limb. Many classifications systems have been developed for elbow stiffness based on the plane of motion, severity, aetiology, prognosis or anatomical location. A new classification, the Stiffness types and Influencing Factors Classification System, is proposed as a treatment algorithm to guide the surgical treatment and the preferred operative approach (open or arthroscopic).


Assuntos
Contratura , Articulação do Cotovelo , Artropatias , Humanos , Contratura/diagnóstico , Contratura/cirurgia , Contratura/etiologia , Cotovelo/cirurgia , Articulação do Cotovelo/cirurgia , Artropatias/diagnóstico , Artropatias/cirurgia , Prognóstico
5.
Chin J Traumatol ; 26(6): 311-316, 2023 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-37852876

RESUMO

Arthroscopic treatment of ankle impingement syndrome (AIS) is a minimally invasive surgical procedure used to address symptoms caused by impingement in the ankle joint. This syndrome occurs when there is abnormal contact between certain bones or soft tissues in the ankle, leading to pain, swelling, or limited range of motion. Traditionally, open surgery was the standard approach for treating AIS. However, with advancements in technology and surgical techniques, arthroscopic treatment has become a preferred method for many patients and surgeons. With improved visualization and precise treatment of the arthroscopy, patients can experience reduced pain and improved functionality, allowing them to return to their daily activities sooner. In this paper, we reviewed the application and clinical efficacy the of arthroscopic approach for treating AIS, hoping to provide a reference for its future promotion.


Assuntos
Articulação do Tornozelo , Artropatias , Humanos , Articulação do Tornozelo/cirurgia , Tornozelo , Artropatias/cirurgia , Artropatias/diagnóstico , Artropatias/etiologia , Resultado do Tratamento , Artroscopia/métodos , Dor
6.
Medicine (Baltimore) ; 102(27): e34099, 2023 Jul 07.
Artigo em Inglês | MEDLINE | ID: mdl-37417608

RESUMO

INTRODUCTION: Progressive pseudorheumatoid dysplasia (PPRD) is a rare autosomal recessive genetic disease caused by mutations in the Wnt1-inducible signaling pathway protein 3 gene. PPRD is considered a noninflammatory disease, and involvement of the sacroiliac joint and hip arthritis have not been reported previously. PATIENT CONCERNS: We report a case of PPRD in an 11-year-old boy, who presented with bilateral pain and swelling in the knees, elbows, and ankles, and bilateral pain without swelling in the shoulders, wrists, knuckles, and proximal and distal interphalangeal joints for the past 5 years. He had been misdiagnosed with juvenile idiopathic arthritis for more than 6 years. DIAGNOSIS: The correct PPRD diagnosis was made using whole-exome sequencing for Wnt1-inducible signaling pathway protein 3 gene mutations (c.589 + 2T>C and c.721T>G; both mutations have rarely been reported) and magnetic resonance imaging examination; moreover, the latter showed inflammation of the sacroiliac joint and hip joint. INTERVENTION: The patient was administered supplemental calcium, active vitamin D, and glucosamine sulfate. OUTCOME: The patient experienced alleviation of joint pain following treatment initiation; however, joint motion improvement was not obvious. Above all, the long-term use of biologic or targeted synthetic disease-modifying antirheumatic drugs in the future was avoided. CONCLUSION: The findings of the inflammatory aspects in PPRD will enrich our understanding of this rheumatological disease.


Assuntos
Artrite Juvenil , Artropatias , Masculino , Humanos , Criança , Artropatias/diagnóstico , Mutação
7.
Clin Podiatr Med Surg ; 40(3): 413-424, 2023 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-37236679

RESUMO

This article is devoted to managing posterior ankle impingement syndrome and its management using endoscopic to arthroscopic surgical instrumentation. The authors explore the critical anatomy, pathogenesis, and clinical examination. Operative techniques, including the approach, and instrumentation used, are outlined. The postoperative protocol is discussed. Finally, a literature review is provided, which also defines known complications.


Assuntos
Tornozelo , Artropatias , Humanos , Artroscopia/métodos , Endoscopia/métodos , Artropatias/diagnóstico , Artropatias/etiologia , Artropatias/cirurgia , Articulação do Tornozelo/diagnóstico por imagem , Articulação do Tornozelo/cirurgia
8.
N Z Vet J ; 71(3): 152-158, 2023 May.
Artigo em Inglês | MEDLINE | ID: mdl-36786654

RESUMO

CASE HISTORY: Dogs (n = 15) that were presented to a single veterinary teaching hospital with elbow dysplasia-associated lameness between September 2021 and May 2022, and were determined to require arthroscopy based on imaging results, were prospectively recruited into the study. The median duration of lameness was 4 (min 1, max 24) months. CLINICAL FINDINGS: Various breeds were represented with a median body weight of 31.6 (min 15, max 46.4) kg and median age at presentation of 14 (min 8, max 83) months. Results of imaging modalities (CT) were consistent with medial coronoid disease with fissured or fragmented medial coronoid process in all dogs. ARTHROSCOPIC FINDINGS: Feasibility of the needle arthroscopy (NA) procedure was firstly assessed in a preliminary cadaveric study in forelimbs (n = 10) collected from 10 adult dogs euthanised for reasons unrelated to the study. Elbow exploration was performed through a medial approach beginning with NA (1.9 mm 0° angle scope) followed by standard arthroscopy (SA; 2.4 mm 30° angle scope). The quality and extent of visualisation (scored through the number of anatomical structures visualised) were recorded and statistically compared. As the cadaver study indicated that NA allowed safe inspection of all structures in medial/caudal compartments, this procedure was then used in the dogs requiring treatment. In the clinical setting, elbow exploration was successful in all dogs and the treatment (removal of osteochondral fragments) was performed without requiring conversion into SA. One month after surgery, all dogs had an improvement in their lameness score (0-5) and 12/15 dogs were no longer lame. There was a reduction in Canine Orthopaedic Index scores measured a median of 99 (min 47, max 180) days after surgery (24 (IQR 19.5-31.5)) compared to the pre-operative period (49 (IQR 46.5-57); p < 0.001). CLINICAL RELEVANCE: Needle arthroscopy-assisted removal of osteochondral fragments was performed in all dogs with satisfactory short-term clinical outcome. NA is a feasible technique for diagnosis and lesion assessment in dogs with a fissured or fragmented coronoid process. Larger clinical studies with longer follow-up are necessary to validate the NanoScope operative arthroscopy system as an alternative strategy to SA for video-assisted treatment of medial coronoid disease.


Assuntos
Doenças do Cão , Artropatias , Cães , Animais , Projetos Piloto , Artroscópios , Coxeadura Animal/diagnóstico , Coxeadura Animal/cirurgia , Hospitais Veterinários , Doenças do Cão/diagnóstico , Doenças do Cão/cirurgia , Hospitais de Ensino , Artropatias/diagnóstico , Artropatias/cirurgia , Artropatias/veterinária , Membro Anterior/cirurgia
9.
J Hand Surg Eur Vol ; 48(4): 326-332, 2023 04.
Artigo em Inglês | MEDLINE | ID: mdl-36482744

RESUMO

We investigated abnormal MRI findings of the triangular fibrocartilage complex in 154 asymptomatic volunteers (21-79 years). Except prevalence, we focused on the morphological features of abnormal signals in relation to age. The majority of full-thickness tears were located in the articular disc (63 participants). The incidence of disc perforation with characteristics of ulnar impaction syndrome increased significantly with age. Asymptomatic full-thickness tears of the ulnar attachment were found in ten participants (seven over 60 years old). The proximal and distal laminae of the ulnar attachment could not be differentiated in 36 participants. In conclusion, MRI is of limited value for the elderly in diagnosing triangular fibrocartilage disorders. For young subjects, MRI is still valuable, especially in diagnosing ulnar detachment, although the ability to distinguish between proximal and distal laminae remains questionable. Disc perforations in volunteers mimicked ulnar impaction syndrome, therefore age, clinical signs and other factors should also be considered in clinical diagnosis.Level of evidence: III.


Assuntos
Artropatias , Fibrocartilagem Triangular , Traumatismos do Punho , Humanos , Idoso , Pessoa de Meia-Idade , Punho , Articulação do Punho , Ulna , Artropatias/diagnóstico , Imageamento por Ressonância Magnética , Artroscopia
10.
J Pediatr ; 253: 219-224.e3, 2023 02.
Artigo em Inglês | MEDLINE | ID: mdl-36202241

RESUMO

OBJECTIVE: To develop and validate a weighted score, the ONCOREUM score, that aids physicians in differentiation of cancer with arthropathy from juvenile idiopathic arthritis (JIA). STUDY DESIGN: Data were extracted from the ONCOREUM Study, a multicenter, cross-sectional investigation aimed at comparing children with cancer and arthropathy to children with JIA. Three statistical approaches were applied to develop the ONCOREUM score and assess the role of each variable in the diagnosis of cancer with arthropathy, including 2 approaches based on multivariable stepwise selection (models 1 and 2) and 1 approach on a Bayesian model averaging method (model 3). The ß coefficients estimated in the models were used to assign score points. Considering that not missing a child with cancer is a mandatory clinical objective, discriminating performance was assessed by fixing sensitivity at 100%. Score performance was evaluated in both developmental and validation samples (representing 80% and 20% of the study population, respectively). RESULTS: Patients with cancer and arthropathy (49 with solid tumors and 46 with hematologic malignancies without peripheral blasts) and 677 patients with JIA were included. The highest area under the receiver operating characteristic (ROC) curve (AUC) in the validation data set was yielded by model 1, which was selected to constitute the ONCOREUM score. The score ranged from -18 to 21.8, and the optimal cutoff obtained through ROC analysis was -6. The sensitivity, specificity, and AUC of the cutoff in the validation sample were 100%, 70%, and 0.85, respectively. CONCLUSIONS: The ONCOREUM score is a powerful and easily applicable tool that may facilitate early differentiation of malignancies with articular complaints from JIA.


Assuntos
Artrite Juvenil , Artropatias , Neoplasias , Criança , Humanos , Artrite Juvenil/complicações , Artrite Juvenil/diagnóstico , Teorema de Bayes , Estudos Transversais , Neoplasias/complicações , Neoplasias/diagnóstico , Artropatias/diagnóstico , Artropatias/etiologia
11.
J Ayub Med Coll Abbottabad ; 34(Suppl 1)(4): S1050-S1052, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36550675

RESUMO

Progressive pseudorheumatoid dysplasia or spondyloepiphyseal dysplasia tarda is caused by a mutation in Wnt1 inducible signalling pathway protein 3 (WISP3) and passes in an autosomal recessive manner. Prevalence underestimated as one per million and most of the cases remain undiagnosed or treated as Juvenile Idiopathic Arthritis (JIA). Differentiation between JIA and PPRD is really challenging however, this case is genetically confirmed from our country. 7-year-old, short stature boy, with multiple joint swellings of hands and feet, initially suspected to have JIA and had been worked up and took treatment for that for the past 2 years. He had progressive stiffness of small joints. Baseline biochemistry, erythrocyte sedimentation rate (ESR), C-reactive protein (CRP), rheumatoid factor and ANA, were within normal limits. He was moderately growth hormone deficient. Thyroid function tests and insulin-like growth factor 1 (IGF-1) were within reference ranges. Skeletal survey showed typical findings of pseudorheumatoid skeletal dysplasia. Physical therapy and genetic counselling were done.


Assuntos
Artrite Juvenil , Artropatias , Osteocondrodisplasias , Masculino , Humanos , Criança , Artrite Juvenil/diagnóstico , Osteocondrodisplasias/diagnóstico , Osteocondrodisplasias/genética , Artropatias/diagnóstico , Artropatias/genética , Mutação
12.
Arthroscopy ; 38(10): 2939-2941, 2022 10.
Artigo em Inglês | MEDLINE | ID: mdl-36192049

RESUMO

The human pelvis represents a wonderful example of apparent idealistic simplicity overwhelmed by realistic complexity. Traditionally, the pelvis has been termed a "ring" linking the lower extremity to the spine via the sacroiliac joint. In essence, the pelvis is the lowest vertebral level-"the hip bone's connected to the spine bone." Thus, the law of parsimony seemingly applies in the diagnosis and management of both arthritic and nonarthritic hip and spine disorders in isolation or combination. However, an inverse Occam's razor is much more likely. The layered theory of hip disorders illustrates how a base osteochondral layer (femoroacetabular impingement syndrome, ischiofemoral impingement from either the lesser trochanter or greater trochanter, arthritis), a static inert soft-tissue layer (labrum, capsule, ligament), a dynamic soft-tissue layer (muscle, tendon), and a neurokinetic chain layer all interact and can lead to hundreds, if not thousands, of different combinations of primary and secondary symptom sources. Although correlation does not equal causation, intuitively and overly simplistically, a stiff painful hip can transfer stress across the pelvic ring to the spine, causing back pain. Alternatively, 2 separate symptom sources could be present at the same time. Biomechanical stress transfer can occur from flexion-based (e.g., femoroacetabular impingement syndrome) or extension-based (e.g., ischiofemoral impingement) problems. The diagnosis of hip-spine syndrome in patients becomes really complicated usually really fast, encompassing the hip joint, peritrochanteric space, deep gluteal space, pelvis and pelvic floor, sacroiliac joint, and lumbosacral spine-and don't forget mental health and the mind controls the musculotendinous system in these challenging, often frustrated, patients. Static imaging findings necessitate dynamic symptom correlation, especially via pertinent values including pelvic incidence; pelvic tilt; sacral slope; lumbar lordosis; femoral and acetabular version; cam, pincer, and dysplastic morphologies; and leg length. Judicious diagnostic injections can greatly assist in clinical symptom interpretation. Successful treatment requires consideration and management of the primary etiology and pertinent secondary downstream effects. When a patient's hip hurts, one should always look at the patient's back; when a patient's back hurts, one should always look at the patient's hip.


Assuntos
Impacto Femoroacetabular , Artropatias , Acetábulo , Impacto Femoroacetabular/diagnóstico , Articulação do Quadril , Humanos , Artropatias/diagnóstico , Pelve , Sacro
13.
Unfallchirurgie (Heidelb) ; 125(11): 839-848, 2022 Nov.
Artigo em Alemão | MEDLINE | ID: mdl-36107205

RESUMO

Arthrofibrosis (AF) is one of the most frequent complications of injuries and surgical interventions on joints, particularly after total knee replacement and anterior cruciate ligament reconstruction. Even though all joints can be affected, most cases involve the knee joint. Patients feel a painful impairment of the range of motion caused by fibrotic tissue formation within and sometimes also outside the joint. The normal healing process is disturbed by mechanical and emotional stressors and severe pain. In 90% of the cases AF occurs even within the first few days after the injury or surgery, so that the quality standards cannot be achieved. Physiotherapy and rehabilitation often do not result in a substantial amelioration of symptoms, so that the activities of daily living (ADL) are severely limited. The clinical diagnostics, differential diagnostics and a novel pathogenesis and stage model of the primary AF with the treatment principles derived from this are presented in this article.


Assuntos
Reconstrução do Ligamento Cruzado Anterior , Artropatias , Humanos , Ligamento Cruzado Anterior/patologia , Atividades Cotidianas , Artropatias/diagnóstico , Articulação do Joelho/cirurgia , Reconstrução do Ligamento Cruzado Anterior/efeitos adversos
14.
Unfallchirurgie (Heidelb) ; 125(11): 862-867, 2022 Nov.
Artigo em Alemão | MEDLINE | ID: mdl-35997801

RESUMO

Joint surgery is one of the most important and successful disciplines in surgery; nevertheless, complications still occur, especially in total knee arthroplasty and surgery of the anterior cruciate ligament. A significant disease in this context is arthrofibrosis. This review article presents the cellular and molecular pathogenetic concept of arthrofibrosis, the spectrum of histopathological diagnostics and differential diagnostics and a classification into joint endoprosthesis-associated and non-joint endoprosthesis-associated arthrofibrosis is proposed. The basis of the histopathological diagnostics is the standardized tissue removal with subsequent fixation in formalin. In the case of joint implant failure and the problem of endoprosthesis-associated arthrofibrosis, the histopathological diagnostics can be carried out according to the consensus classification of synovia-like interface membrane (SLIM). Arthrofibrosis is characterized by fibrosis, a high fibroblast cellularity with immunohistochemical detection of cytoplasmic beta catenin expression. The presence of endoprosthesis-associated arthrofibrosis is probable above a threshold of 20 beta catenin positive fibroblasts per high-power field (HPF). The diagnosis of a non-endoprosthesis-associated arthrofibrosis can be classified according to the joint pathology algorithm. Diffuse non-endoprosthesis-associated arthrofibrosis is characterized by generalized proliferation of connective tissue in the whole joint and localized circumscribed arthrofibrosis is characterized by a nodose cyclops-like fibrosis. The clarification of the cause of arthrofibrosis is based on an interdisciplinary cooperation. In addition to the histopathological diagnostics, this includes clinical, surgical, biomechanical, arthroscopic, microbiological, laboratory parameter and radiological findings.


Assuntos
Artropatias , Prótese Articular , Humanos , beta Catenina , Artropatias/diagnóstico , Membrana Sinovial/patologia , Fibrose
15.
Orthop Surg ; 14(9): 2391-2395, 2022 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-35913195

RESUMO

BACKGROUND: Complete discoid medial meniscus is an extremely rare abnormality of the knee joint whose meniscus has a discoid shape rather than a normal semilunar one. Several medial meniscus anomalies including anomalous insertion have been reported in the literature. This report presents a rare case of symptomatic complete discoid medial meniscus whose anterolateral (apical) portion was completely coalesced with the ACL. MRI, radiographic, and arthroscopic findings in the medial compartment are to be submitted. CASE PRESENTATION: A 29-year-old male presented with intermittent pain and swelling of the right knee for 2 years. Based on radiographic, MRI, and physical examination findings, he was diagnosed with discoid medial meniscus tears. Arthroscopic saucerization was performed for the torn discoid medial meniscus of the right knee. Arthroscopic examination revealed a complete discoid medial meniscus and the anterolateral (apical) portion of which was completely coalesced with the ACL. Careful Probing of the meniscal surface revealed there was a longitudinal tear extending from the tibial spine to the midportion of the meniscus. Arthroscopic saucerization of the discoid meniscus was performed after closely cutting the meniscus around the ACL. The patient reported no symptoms, and he had returned to his daily and sports activities, including football, basketball, and jogging, at the 12-month follow-up. CONCLUSION: Complete discoid medial meniscus is an extremely rare abnormality, and this case presents the third complete discoid medial meniscus whose anterolateral (apical) portion was completely coalesced with the ACL. The current case we present strongly supports the hypothesis that ACL and meniscus were differentiated from the same mesenchyme.


Assuntos
Lesões do Ligamento Cruzado Anterior , Artropatias , Adulto , Ligamento Cruzado Anterior , Artroscopia , Humanos , Artropatias/diagnóstico , Articulação do Joelho/cirurgia , Imageamento por Ressonância Magnética , Masculino , Meniscos Tibiais/diagnóstico por imagem , Meniscos Tibiais/cirurgia
16.
Rheumatology (Oxford) ; 61(9): 3693-3703, 2022 08 30.
Artigo em Inglês | MEDLINE | ID: mdl-34919662

RESUMO

OBJECTIVES: Progressive pseudorheumatoid dysplasia (PPRD) is a spondyloepiphyseal dysplasia caused by biallelic variants in CCN6. This study aimed to describe the early signs and follow-up findings in 44 Turkish PPRD patients. METHODS: The patients with progressive stiffness of multiple joints, characteristic wide metaphysis of interphalangeal (IP) joints and platyspondyly were clinically diagnosed with PPRD. Fifteen patients who had first symptoms under 3 years of age were grouped as early-onset, while others were grouped as classical. CCN6 sequencing was performed in 43 patients. RESULTS: Thirteen pathogenic/likely pathogenic variants were identified, five were novel. c.156C>A(p.Cys52*) variant was found in 53.3% of the families. The initial symptom in the early-onset group was genu varum deformity, while it was widening of IP joints in the classical group. The median age of onset of symptoms and of diagnosis was 4 and 9.7 years, respectively. The mean follow-up duration was 5.6 years. The median age of onset of IP, elbow, knee and hip stiffness, which became progressive with growth was 5, 9, 9 and 12.2 years, respectively. Waddling gait occurred in 97.7% of the patients. A total of 47.7% lost independent walking ability at the median age of 12 years. In the early-onset group, waddling gait occurred earlier than in classical group (P < 0.001). Two patients had atypical presentation with late-onset and mild or lack of IP involvement. CONCLUSION: We observed that genu varum deformity before the age of 3 years was an early sign for PPRD and almost half of the patients lost walking ability at the median age of 12 years.


Assuntos
Genu Varum , Artropatias , Proteínas de Sinalização Intercelular CCN , Criança , Pré-Escolar , Seguimentos , Humanos , Artropatias/congênito , Artropatias/diagnóstico , Artropatias/genética
17.
J Bone Joint Surg Am ; 103(19): 1852-1860, 2021 10 06.
Artigo em Inglês | MEDLINE | ID: mdl-34612850

RESUMO

➤: The proper diagnosis and treatment of patients with concurrent hip and spine pathological processes can be challenging because of the substantial overlap in symptomatology. ➤: There is no consensus on which pathological condition should be addressed first. ➤: Factors such as advanced spinal degeneration, deformity, and prior fusion alter the biomechanics of the spinopelvic unit. Attention should be paid to recognizing these issues during the work-up for a total hip arthroplasty as they can result in an increased risk of dislocation. ➤: In patients with concurrent spine and hip degeneration, the surgeon must pay close attention to appropriate implant positioning and have consideration for implants with enhanced stability to minimize the risk of dislocation. ➤: A proper understanding of sagittal balance and restoration of this balance is integral to improving patient outcomes following spinal surgery. ➤: The advent of new imaging modalities, increased awareness of spinopelvic mobility, as well as a better understanding of sagittal alignment will hopefully improve our treatment of patients with hip-spine syndrome.


Assuntos
Acetábulo , Articulação do Quadril , Artropatias , Ossos Pélvicos , Doenças da Coluna Vertebral , Acetábulo/diagnóstico por imagem , Acetábulo/fisiopatologia , Acetábulo/cirurgia , Articulação do Quadril/diagnóstico por imagem , Articulação do Quadril/fisiopatologia , Articulação do Quadril/cirurgia , Humanos , Artropatias/complicações , Artropatias/diagnóstico , Artropatias/fisiopatologia , Artropatias/terapia , Ossos Pélvicos/diagnóstico por imagem , Ossos Pélvicos/fisiopatologia , Ossos Pélvicos/cirurgia , Amplitude de Movimento Articular , Doenças da Coluna Vertebral/complicações , Doenças da Coluna Vertebral/diagnóstico , Doenças da Coluna Vertebral/fisiopatologia , Doenças da Coluna Vertebral/terapia
18.
Indian J Pathol Microbiol ; 64(4): 702-706, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34673589

RESUMO

INTRODUCTION: Synovium has been documented as a primary site of inflammation and a major effector organ in a variety of joint diseases. Study of simple technique like synovial biopsy can help in early diagnosis and treatment of diseases significantly improving outcome of patient in cases of rheumatoid arthritis, osteoarthritis, etc., Only limited data exist on utility of synovial biopsies. AIM AND OBJECTIVES: To analyze the pattern of synovial lesions to differentiate between different kinds of arthritis. Also, to identify early stages of arthritis so as to prevent unnecessary invasive surgical procedure. MATERIALS AND METHODS: It's a retrospective study to analyze 103 cases of synovial lesions diagnosed in last five years at a tertiary care orthopedic center. All synovial biopsies obtained mainly by open method and few by arthroscopic method, that came to the Dept of Pathology were included. Lesions were classified into four categories that is, inflammatory joint diseases, degenerative joint diseases, tumor-like conditions and tumors. RESULTS: Age group most affected was between 61 and 70 years, with male predominance. Osteoarthritis (OA) was the most common histopathological diagnosis. Early OA tissues showed greater lining layer thickness, vessel proliferation, and inflammation, while surface fibrin deposition along with fibrosis was noted in later stages. CONCLUSION: The histo-morphological observations made in this study may have important therapeutic implications for some patients during the early evolution of arthritis and could prevent unnecessary operative intervention of later stages.


Assuntos
Biópsia/estatística & dados numéricos , Artropatias/diagnóstico , Artropatias/fisiopatologia , Membrana Sinovial/fisiopatologia , Centros de Atenção Terciária/estatística & dados numéricos , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Índia , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Adulto Jovem
19.
Pediatr Rheumatol Online J ; 19(1): 153, 2021 Oct 13.
Artigo em Inglês | MEDLINE | ID: mdl-34645460

RESUMO

BACKGROUND: Intra-articular venous malformations (IAVM) are rare benign vascular anomalies that usually affect young patients and most common locate in the knee. The terminology of these lesions is still ill-defined, as they are often termed in the literature as synovial hemangiomas. Early diagnosis can be difficult, because they usually present with nonspecific clinical manifestations that are similar those of other rheumatic diseases, especially juvenile idiopathic arthritis (JIA). CASE SERIES: We conducted a retrospective analysis of five pediatric patients admitted to our units for recurrent swelling of the knee, and compared their characteristics with those of literature reports. The average age at first symptom and time from onset to diagnosis was 3.9 years (range 18 months-7 years) and 3.5 years (range 1-7 years), respectively. In our patients, an initial misdiagnosis of JIA, bleeding disorder or traumatic arthropathy was made. On MRI imaging, the features of the lesion were similar in all patients, and were marked by isointense-to-hypointense signal in T1-weighted images, and hyperintense signal in T2-weighted images. When performed, arthrocentesis led to aspiration of bloody fluid. The diagnosis was confirmed with a biopsy and histopathologic assessment in all patients. Open surgery enabled complete excision of the mass and was followed by stable remission over time in all cases. CONCLUSIONS: Our report highlights the challenges that may be posed by the detection of knee IAVM and the frequent long delay between onset of symptoms and diagnosis. The key elements for early recognition include careful assessment of patient history, demonstration of bloody fluid on arthrocentesis, and proper interpretation of MRI scanning.


Assuntos
Artropatias/diagnóstico , Articulação do Joelho/irrigação sanguínea , Imageamento por Ressonância Magnética/métodos , Ultrassonografia/métodos , Malformações Vasculares/diagnóstico , Criança , Pré-Escolar , Diagnóstico Diferencial , Feminino , Seguimentos , Humanos , Lactente , Articulação do Joelho/patologia , Masculino , Estudos Retrospectivos
20.
Orthop Surg ; 13(6): 1697-1706, 2021 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-34351067

RESUMO

The hip joint is the largest weight-bearing joint in the body and is surrounded by dense capsules and thick muscles. Hip arthroscopic techniques are suitable for the treatment of hip-related conditions. These minimally invasive techniques have rapidly developed in China since 2007. Moreover, they have been used in the treatment of gluteal muscle contracture, snapping hip syndrome, femoral acetabular impingement, acetabular labral injury, hip labral calcification, synovial chondroma, osteoid osteoma, synovitis, osteonecrosis of the femoral head, and developmental dysplasia of the hip. This technique has showed its advantage in the total debridement of lesions, precision treatment, and less trauma. However, we lack understanding of the overall development of arthroscopic techniques in China. This review illustrates the recent development of hip arthroscopic techniques in China and related research progress.


Assuntos
Artroscopia/métodos , Lesões do Quadril/diagnóstico , Lesões do Quadril/cirurgia , Artropatias/diagnóstico , Artropatias/cirurgia , China , Humanos
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