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1.
Curr Osteoporos Rep ; 21(1): 85-94, 2023 02.
Artigo em Inglês | MEDLINE | ID: mdl-36477366

RESUMO

PURPOSE OF REVIEW: Multicentric carpotarsal osteolysis (MCTO) is an ultra-rare disorder characterized by osteolysis of the carpal and tarsal bones, subtle craniofacial deformities, and nephropathy. The molecular pathways underlying the pathophysiology are not well understood. RECENT FINDINGS: MCTO is caused by heterozygous mutations in MAFB, which encodes the widely expressed transcription factor MafB. All MAFB mutations in patients with MCTO result in replacement of amino acids that cluster in a phosphorylation region of the MafB transactivation domain and account for a presumed gain-of-function for the variant protein. Since 2012, fewer than 60 patients with MCTO have been described with 20 missense mutations in MAFB. The clinical presentations are variable, and a genotype-phenotype correlation is lacking. Osteolysis, via excessive osteoclast activity, has been regarded as the primary mechanism, although anti-resorptive agents demonstrate little therapeutic benefit. This paper appraises current perspectives of MafB protein action, inflammation, and dysfunctional bone formation on the pathogenesis of the skeletal phenotype in MCTO. More research is needed to understand the pathogenesis of MCTO to develop rational therapies.


Assuntos
Ossos do Carpo , Osteólise , Humanos , Osteólise/genética , Mutação , Mutação de Sentido Incorreto , Ossos do Carpo/patologia , Fenótipo
2.
Medicine (Baltimore) ; 100(28): e26445, 2021 Jul 16.
Artigo em Inglês | MEDLINE | ID: mdl-34260526

RESUMO

RATIONALE: Several diseases feature tumors, or tumor-mimicking lesions, that further invade the bone and surrounding joints of the wrist region. Here, we describe 3 rare cases of multiple destructed carpal bones and adjacent joints in different disease entities confirmed via pathologic diagnosis. PATIENT CONCERNS: All 3 cases were examined between January 2016 and December 2019. Three patients presented with similar clinical manifestations and radiographic features, with multiple osteolytic lesions in the carpal bones and metacarpal bone base. DIAGNOSES: The 3 cases were diagnosed as diffuse type tenosynovial giant cell tumor, calcifying aponeurotic fibroma, and rheumatoid arthritis. INTERVENTIONS: Separate, experienced radiologist and pathologist took part in the interpretation and compartmentalization of radiographs and pathological findings, respectively. Even magnetic resonance imaging could not achieve a diagnosis; surgical excision was therefore required, with subsequent pathological assessment for treatment and final diagnosis. OUTCOMES: functional outcomes also differed among patients, poorest in rheumatoid arthritis patient. LESSONS: We report 3 rare disease entities, presenting with multifocal osteolytic lesions in the wrist. They all presented with similar clinical manifestations, and the final diagnoses were made via pathological evaluation. Compared with tenosynovial giant cell tumor and calcifying aponeurotic fibroma, rheumatoid arthritis had the poorest outcome.


Assuntos
Artrite Reumatoide/patologia , Ossos do Carpo/patologia , Fibroma Ossificante/patologia , Tumor de Células Gigantes de Bainha Tendinosa/patologia , Neoplasias de Tecidos Moles/patologia , Artrite Reumatoide/diagnóstico , Ossos do Carpo/diagnóstico por imagem , Diagnóstico Diferencial , Feminino , Fibroma Ossificante/diagnóstico , Tumor de Células Gigantes de Bainha Tendinosa/diagnóstico , Humanos , Masculino , Pessoa de Meia-Idade , Osteólise/diagnóstico por imagem , Osteólise/patologia , Neoplasias de Tecidos Moles/diagnóstico
3.
Front Endocrinol (Lausanne) ; 12: 568454, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34122326

RESUMO

Background: Bone parameters derived from HR-pQCT have been investigated on a parameter-by-parameter basis for different clinical conditions. However, little is known regarding the interrelationships of bone parameters and the spatial distribution of these interrelationships. In this work: 1) we investigate compartmental interrelationships of bone parameters; 2) assess the spatial distribution of interrelationships of bone parameters; and 3) compare interrelationships of bone parameters between postmenopausal women with and without a recent Colles' fracture. Methods: Images from the unaffected radius in fracture cases (n=84), and from the non-dominant radius of controls (n=98) were obtained using HR-pQCT. Trabecular voxel-based maps of local bone volume fraction (L.Tb.BV/TV), homogenized volumetric bone mineral density (H.Tb.BMD), homogenized µFEA-derived strain energy density (H.Tb.SED), and homogenized inter-trabecular distances (H.Tb.1/N) were generated; as well as surface-based maps of apparent cortical bone thickness (Surf.app.Ct.Th), porosity-weighted cortical bone thickness (Surf.Ct.SIT), mean cortical BMD (Surf.Ct.BMD), and mean cortical SED (Surf.Ct.SED). Anatomical correspondences across the parametric maps in the study were established via spatial normalization to a common template. Mean values of the parametric maps before spatial normalization were used to assess compartmental Spearman's rank partial correlations of bone parameters (e.g., between H.Tb.BMD and L.Tb.BV/TV or between Surf.Ct.BMD and Surf.app.Ct.Th). Spearman's rank partial correlations were also assessed for each voxel and vertex of the spatially normalized parametric maps, thus generating maps of Spearman's rank partial correlation coefficients. Correlations were performed independently within each group, and compared between groups using the Fisher's Z transformation. Results: All within-group global trabecular and cortical Spearman's rank partial correlations were significant; and the correlations of H.Tb.BMD-L.Tb.BV/TV, H.Tb.BMD-H.Tb.1/N, L.Tb.BV/TV-H.Tb.1/N, Surf.Ct.BMD-Surf.Ct.SED and Surf.Ct.SIT-Surf.Ct.SED were significantly different between controls and fracture cases. The spatial analyses revealed significant heterogeneous voxel- and surface-based correlation coefficient maps across the distal radius for both groups; and the correlation maps of H.Tb.BMD-L.Tb.BV/TV, H.Tb.BMD-H.Tb.1/N, L.Tb.BV/TV-H.Tb.1/N, H.Tb.1/N-H.Tb.SED and Surf.app.Ct.Th - Surf.Ct.SIT yielded small clusters of significant correlation differences between groups. Discussion: The heterogeneous spatial distribution of interrelationships of bone parameters assessing density, microstructure, geometry and biomechanics, along with their global and local differences between controls and fracture cases, may help us further understand different bone mechanisms of bone fracture.


Assuntos
Densidade Óssea/fisiologia , Osso e Ossos , Fratura de Colles , Idoso , Fenômenos Biomecânicos , Osso e Ossos/patologia , Osso e Ossos/fisiopatologia , Osso e Ossos/ultraestrutura , Ossos do Carpo/diagnóstico por imagem , Ossos do Carpo/patologia , Ossos do Carpo/fisiopatologia , Ossos do Carpo/ultraestrutura , Estudos de Casos e Controles , Fratura de Colles/diagnóstico , Fratura de Colles/etiologia , Fratura de Colles/patologia , Fratura de Colles/fisiopatologia , Feminino , Antebraço/diagnóstico por imagem , Antebraço/fisiopatologia , Traumatismos do Antebraço/diagnóstico , Traumatismos do Antebraço/patologia , Traumatismos do Antebraço/fisiopatologia , Humanos , Pessoa de Meia-Idade , Minnesota , Porosidade , Rádio (Anatomia)/diagnóstico por imagem , Rádio (Anatomia)/patologia , Rádio (Anatomia)/fisiopatologia , Rádio (Anatomia)/ultraestrutura , Análise Espacial , Tomografia Computadorizada por Raios X/métodos , Articulação do Punho/diagnóstico por imagem , Articulação do Punho/patologia , Articulação do Punho/fisiopatologia , Articulação do Punho/ultraestrutura
4.
Am J Med Genet A ; 185(8): 2477-2481, 2021 08.
Artigo em Inglês | MEDLINE | ID: mdl-33988298

RESUMO

Multicentric carpotarsal osteolysis (MCTO) is an autosomal dominant condition characterized by carpal-tarsal abnormalities; over half of affected individuals also develop renal disease. MCTO is caused by mutations of MAFB; however, there is no clear phenotype-genotype correlation. We describe the first reported family of variable MCTO phenotype due to mosaicism: the proband had classical skeletal features and renal involvement due to focal segmental glomerulosclerosis (FSGS), and the father had profound renal impairment due to FSGS, necessitating kidney transplantation. Mosaicism was first suspected in this family due to unequal allele ratios in the sequencing chromatograph of the initial blood sample of proband's father and confirmed by sequencing DNA extracted from the father's hair, collected from different bodily parts. This case highlights the need for a high index of clinical suspicion to detect low-level parental mosaicism, as well as a potential role for MAFB mutation screening in individuals with isolated FSGS.


Assuntos
Ossos do Carpo/anormalidades , Ossos do Carpo/patologia , Família , Síndrome de Hajdu-Cheney/diagnóstico , Síndrome de Hajdu-Cheney/genética , Mosaicismo , Penetrância , Alelos , Biomarcadores , Análise Mutacional de DNA , Estudos de Associação Genética , Predisposição Genética para Doença , Genótipo , Síndrome de Hajdu-Cheney/cirurgia , Humanos , Fator de Transcrição MafB/genética , Masculino , Mutação , Linhagem , Fenótipo , Radiografia , Análise de Sequência de DNA , Adulto Jovem
5.
Rofo ; 193(2): 139-150, 2021 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-32882727

RESUMO

BACKGROUND: The term "carpal instability" describes different debilitating wrist conditions, in which the carpus is unable to maintain its physiological range of motion and load transfer. Depending on the cause and location of the dysfunction, four groups can be defined: dissociative, non-dissociative, complex, and adaptive carpal instability. As the most common form by far, dissociative carpal instability can further be categorized as dorsal or palmar intercalated segment instability, contingent on the afflicted interosseous ligament. METHOD: This review article outlines the different entities of carpal instability, their pathophysiology, and their clinical presentation. It further discusses the diagnostic significance of different imaging methods as well as the established treatment options for each form of instability in context with the current literature. RESULTS AND CONCLUSION: Early detection and treatment of carpal instability are essential for preventing carpal osteoarthritis. Traumatic lesions of the scapholunate interosseous ligament are the most frequent cause of instability. They can occur in an isolated fashion or in context with other carpal injuries. While stress imaging and fluoroscopy facilitate the differentiation between dynamic and static forms of carpal instability, only MRI and CT/MR arthrography can directly reveal the extent of ligament discontinuity. KEY POINTS: · Carpal instability can manifest only in motion (dynamic) or at rest (static).. · Dissociative forms must be distinguished from non-dissociative, adaptive, or complex entities.. · Most instabilities are related to traumatic injuries or CPPD arthropathy.. · Fluoroscopy, stress imaging, and MR and CT arthrography are helpful for diagnosis.. CITATION FORMAT: · Grunz JP, Gietzen CH, Grunz K et al. Imaging of Carpal Instabilities. Fortschr Röntgenstr 2021; 193: 139 - 150.


Assuntos
Ossos do Carpo/diagnóstico por imagem , Instabilidade Articular/diagnóstico por imagem , Ligamentos/diagnóstico por imagem , Osteoartrite/prevenção & controle , Artrografia/métodos , Ossos do Carpo/lesões , Ossos do Carpo/patologia , Diagnóstico Precoce , Fluoroscopia/métodos , Humanos , Instabilidade Articular/etiologia , Instabilidade Articular/fisiopatologia , Instabilidade Articular/cirurgia , Ligamentos/patologia , Ligamentos/cirurgia , Imageamento por Ressonância Magnética/métodos , Amplitude de Movimento Articular/fisiologia , Tomografia Computadorizada por Raios X/métodos , Traumatismos do Punho/complicações
6.
Int J Mycobacteriol ; 9(3): 325-328, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32862171

RESUMO

Tuberculosis (TB) is the most prevalent infectious disease in Southeast Asia. It causes both pulmonary and extrapulmonary diseases. TB of the wrist is rare and presents as osteomyelitis or tenosynovitis. We report a middle-aged male with carpal bone tuberculous osteomyelitis. He presented with left wrist pain initially treated as gouty arthritis. Within 2 weeks, he developed seropurulent discharge with osteomyelitic changes on imaging. He underwent debridement, and intraoperatively, there was destruction of most carpal bones. Histopathological examination revealed chronic granulomatous inflammation with abscess formation. Anti-TB medication was initiated, and he made a complete recovery with almost full range of wrist movement after 9 months of treatment. This case serves as a reminder that TB is a great mimicker, and a high index of suspicion is required to make a diagnosis of TB of the wrist. Early initiation of anti-TB is pivotal to prevent complications and deterioration of joint functions.


Assuntos
Artrite Gotosa/patologia , Ossos do Carpo/microbiologia , Ossos do Carpo/patologia , Osteomielite/microbiologia , Tuberculose Osteoarticular/diagnóstico por imagem , Abscesso , Antituberculosos/uso terapêutico , Técnicas Histológicas , Humanos , Masculino , Pessoa de Meia-Idade , Osteomielite/diagnóstico , Osteomielite/cirurgia , Radiografia , Resultado do Tratamento , Tuberculose Osteoarticular/tratamento farmacológico , Tuberculose Osteoarticular/microbiologia , Tuberculose Osteoarticular/cirurgia , Punho/microbiologia , Punho/patologia
7.
Am J Med Genet A ; 182(6): 1438-1448, 2020 06.
Artigo em Inglês | MEDLINE | ID: mdl-32259393

RESUMO

Multiple synostoses syndrome (SYNS1; OMIM# 186500) is a rare autosomal dominant disorder reported in a few cases worldwide. We report a Chinese pedigree characterized by proximal symphalangism, conductive hearing loss, and distinctive facies. We examined the genetic cause and reviewed the literature to discuss the pathogeny, treatment, and prevention of SYNS1. Audiological, ophthalmological, and radiological examinations were evaluated. Whole-exome sequencing (WES) was performed to identify mutations in the proband and her parents. Sanger sequencing was used to verify the results for the proband, parents, and grandmother. The literature on the genotype-phenotype correlation was reviewed. The patient was diagnosed with multiple synostoses syndrome clinically. WES and bioinformatic analysis revealed a novel missense mutation in the NOG gene, c.554C>G (p.Ser185Cys), cosegregated in this family. The literature review showed that the phenotype varies widely, but the typical facies, conductive hearing loss, and proximal symphalangism occurred frequently. All reported mutations are highly conserved in mammals based on conservation analysis, and there are regional hot spots for these mutations. However, no distinct genotype-phenotype correlations have been identified for mutations in NOG in different races. Regular systematic examinations and hearing aids are beneficial for this syndrome. However, the outcomes of otomicrosurgery are not encouraging owing to the regrowth of bone. This study expanded the mutation spectrum of NOG and is the first report of SYNS1 in a Chinese family. Genetic testing is recommended as part of the diagnosis of syndromic deafness. A clinical genetic evaluation is essential to guide prevention, such as preimplantation genetic diagnosis.


Assuntos
Anquilose/genética , Ossos do Carpo/anormalidades , Proteínas de Transporte/genética , Deformidades Congênitas do Pé/genética , Deformidades Congênitas da Mão/genética , Perda Auditiva Condutiva/genética , Estribo/anormalidades , Sinostose/genética , Ossos do Tarso/anormalidades , Falanges dos Dedos do Pé/anormalidades , Anquilose/complicações , Anquilose/epidemiologia , Anquilose/patologia , Ossos do Carpo/patologia , Criança , Pré-Escolar , China/epidemiologia , Feminino , Deformidades Congênitas do Pé/complicações , Deformidades Congênitas do Pé/epidemiologia , Deformidades Congênitas do Pé/patologia , Estudos de Associação Genética , Predisposição Genética para Doença , Deformidades Congênitas da Mão/complicações , Deformidades Congênitas da Mão/epidemiologia , Deformidades Congênitas da Mão/patologia , Perda Auditiva Condutiva/complicações , Perda Auditiva Condutiva/epidemiologia , Perda Auditiva Condutiva/patologia , Humanos , Masculino , Mutação de Sentido Incorreto/genética , Linhagem , Fenótipo , Estribo/patologia , Sinostose/complicações , Sinostose/epidemiologia , Sinostose/patologia , Ossos do Tarso/patologia , Falanges dos Dedos do Pé/patologia , Dedos do Pé/anormalidades , Dedos do Pé/patologia , Sequenciamento do Exoma
10.
Math Biosci Eng ; 16(6): 6454-6466, 2019 07 12.
Artigo em Inglês | MEDLINE | ID: mdl-31698572

RESUMO

Pediatricians and pediatric endocrinologists utilize Bone Age Assessment (BAA) for in-vestigations pertaining to genetic disorders, hormonal complications and abnormalities in the skeletal system maturity of children. Conventional methods dating back to 1950 were often tedious and suscep-tible to inter-observer variability, and preceding attempts to improve these traditional techniques have inadequately addressed the human expert inter-observer variability so as to significantly refine bone age evaluations. In this paper, an automated and efficient approach with regression convolutional neu-ral network is proposed. This approach automatically exploits the carpal bones as the region of interest (ROI) and performs boundary extraction of carpal bones, then based on the regression convolutional neural network it evaluates the skeletal age from the left hand wrist radiograph of young children. Experiments show that the proposed method achieves an average discrepancy of 2.75 months between clinical and automatic bone age evaluations, and achieves 90.15% accuracy within 6 months from the ground truth for male. Further experimental results with test radiographs assigned an accuracy within 1 year achieved 99.43% accuracy.


Assuntos
Determinação da Idade pelo Esqueleto/métodos , Ossos do Carpo/diagnóstico por imagem , Redes Neurais de Computação , Adolescente , Algoritmos , Ossos do Carpo/patologia , Criança , Pré-Escolar , China , Interpretação Estatística de Dados , Feminino , Humanos , Processamento de Imagem Assistida por Computador/métodos , Lactente , Recém-Nascido , Masculino , Variações Dependentes do Observador , Reconhecimento Automatizado de Padrão , Análise de Regressão , Reprodutibilidade dos Testes , Raios X , Adulto Jovem
11.
Medicine (Baltimore) ; 98(16): e15262, 2019 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-31008967

RESUMO

RATIONALE: Fibroma of tendon sheath is a rare entity that is typically attached to the tendon sheath. PATIENT CONCERNS: A 43-year-old man presented with a painful mass in his right wrist, which was initially misdiagnosed as an enchondroma. DIAGNOSIS: Fibroma embedded into carpal bones, which exhibited lytic radiographic features similar to those of enchondroma. Excisional biopsy demonstrated spindle-shaped cells and collagen-like stroma. INTERVENTIONS: The patient underwent lesion resection surgery. OUTCOMES: The patient recovered well and showed no signs of recurrence at 6-month follow-up. LESSONS: This case provides valuable insights for hand surgeons. While radiograph is helpful in multiple diseases, histological examination is indispensable for establishment of final diagnosis.


Assuntos
Neoplasias Ósseas/diagnóstico , Ossos do Carpo/patologia , Condroma/diagnóstico , Fibroma/diagnóstico , Neoplasias de Tecidos Moles/diagnóstico , Tendões , Adulto , Ossos do Carpo/diagnóstico por imagem , Ossos do Carpo/cirurgia , Diagnóstico Diferencial , Erros de Diagnóstico , Fibroma/diagnóstico por imagem , Fibroma/patologia , Fibroma/cirurgia , Humanos , Masculino , Radiografia , Neoplasias de Tecidos Moles/diagnóstico por imagem , Neoplasias de Tecidos Moles/patologia , Neoplasias de Tecidos Moles/cirurgia , Tendões/diagnóstico por imagem , Tendões/patologia , Tendões/cirurgia
12.
Int J Paleopathol ; 25: 20-29, 2019 06.
Artigo em Inglês | MEDLINE | ID: mdl-30927654

RESUMO

OBJECTIVE: To evaluate and differentially diagnose erosive skeletal lesions located on multiple joints of an individual archaeologically recovered in 2017. MATERIALS: Skeletal remains of a well-preserved skeleton dating to the 12th-13th centuries from the medieval church of San Biagio in Cittiglio (Varese, northern Italy). METHODS: Macroscopic and radiographic imaging. RESULTS: Erosive marginal symmetrical lesions are present on the metatarsophalangeal, metacarpophalangeal and interphalangeal joints of an adult male, aged 55-75 years. Osteolytic changes, in the form of pocket erosions, surface resorptions and pseudocyst formations, are also macroscopically observed on some carpal and tarsal bones and on several large peripheral joints. CONCLUSIONS: A careful differential diagnosis of the lesions and their macroscopic and radiological appearance is suggestive of a case of rheumatoid arthritis-like polyarthropathy. SIGNIFICANCE: This case contributes to the debate regarding the antiquity of erosive polyarthropathies, providing additional evidence for the existence of these diseases in the Old World prior to the European discovery of the Americas. LIMITATIONS: Small sample size limits discussion of the scope of the disease in antiquity. SUGGESTIONS FOR FURTHER RESEARCH: This case highlights the need for further macroscopic, radiographic, and biomolecular studies of pre-modern European skeletal samples to investigate the hypothesized pre-existence of these pathological conditions in Europe prior to 1492.


Assuntos
Artrite Reumatoide/história , Osteoartrite/história , Idoso , Artrite Reumatoide/diagnóstico por imagem , Artrite Reumatoide/patologia , Ossos do Carpo/diagnóstico por imagem , Ossos do Carpo/patologia , História Medieval , Humanos , Itália , Masculino , Pessoa de Meia-Idade , Osteoartrite/diagnóstico por imagem , Osteoartrite/patologia , Radiografia , Esqueleto/diagnóstico por imagem , Esqueleto/patologia , Ossos do Tarso/diagnóstico por imagem , Ossos do Tarso/patologia
13.
PLoS One ; 14(1): e0211369, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-30689656

RESUMO

BACKGROUND: Carpal tunnel syndrome is a common neuropathy disorder for which surgical treatment consists of release and reconstruction of the flexor retinaculum. Reports of postoperative clinical outcomes after carpal tunnel release with or without flexor retinaculum reconstruction in several studies are controversial. This meta-analysis aimed to compare the efficacy and safety of carpal tunnel release with or without flexor retinaculum reconstruction. METHODS: The PubMed, EMBASE, Web of Science, Ovid, Cochrane Library and Clinical Tri Org databases were searched for randomized controlled trials that compared carpal release with and without transverse carpal ligament reconstruction for carpal tunnel syndrome. Outcomes included postoperative Boston Carpal Tunnel Questionnaire Symptom Severity Scale (SSS), Functional Status Scale (FSS), grip strength and complications. The follow-up time was categorized into short-term (0-3mon) and long-term(>3mon). RESULTS: A total of 7 studies with 613 patients met the inclusion criteria and were analyzed in detail. Statistical analysis showed no significant difference between two groups on postoperative long-term grip strength (MD 5.85, 95% CI -1.05 to 12.76) long-term SSS (MD -0.31, 95% CI -0.75 to 0.13) and occurrence of complications (RR 1.14, 95% CI 0.84 to 1.54), whereas statistically significant difference was found between groups regarding short-term grip strength (MD 1.51, 95% CI 0.86 to 2.17) and long-term FSS (MD -0.34, 95% CI -0.47 to -0.21). CONCLUSION: Carpal tunnel release with flexor retinaculum reconstruction for carpal tunnel syndrome may result in improved long-term functional status while there's no advantage regarding grip strength, symptom severity and safety over individual carpal tunnel release in short- and long-term outcomes.


Assuntos
Ossos do Carpo/cirurgia , Síndrome do Túnel Carpal/cirurgia , Força da Mão , Ligamentos Articulares/cirurgia , Procedimentos de Cirurgia Plástica/métodos , Complicações Pós-Operatórias , Ossos do Carpo/patologia , Síndrome do Túnel Carpal/patologia , Seguimentos , Humanos , Ligamentos Articulares/patologia , Ensaios Clínicos Controlados Aleatórios como Assunto , Resultado do Tratamento
14.
Vet Radiol Ultrasound ; 59(6): 715-720, 2018 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-30395383

RESUMO

As magnetic resonance imaging (MRI) becomes more readily available and more frequently utilized in the assessment of canine carpal lameness, both normal variations and early pathologic conditions must be recognized to optimize patient care and provide accurate diagnosis. On cross sectional studies of the canine carpus, cyst-like lesions have been detected at the dorsolateral aspect of the intermedioradial carpal bone. The cross-sectional imaging and histologic properties of these lesions have not been described. The purpose of this observational study is to evaluate the MRI and histologic features of these cyst-like lesions in a cohort of clinically sound dogs. It was hypothesized that the lesions would show features similar to intraosseous ganglion cysts of the human wrist. Twenty-five cadaveric canine carpi were obtained and a total of 13 lesions were detected on MRI. Based on MRI, six carpi with lesions of varying size and one normal carpus were submitted for histological evaluation. Five of the abnormal carpi had nonarticular cyst-like lesions; one specimen with a positive magnetic resonance image for a cyst-like lesion had no cyst-like lesion on histology. Conspicuity of a medium-size lesion as evaluated on radiographs was poor. Given the presence of these nonarticular cyst-like lesions in a population of clinically sound patients, their clinical importance is uncertain. The development of these lesions may relate to altered mechanics or genetic predispositions, requiring additional study.


Assuntos
Cistos Ósseos/veterinária , Ossos do Carpo/diagnóstico por imagem , Carpo Animal/diagnóstico por imagem , Interpretação de Imagem Assistida por Computador/estatística & dados numéricos , Imageamento por Ressonância Magnética/veterinária , Animais , Cistos Ósseos/diagnóstico por imagem , Cistos Ósseos/patologia , Cadáver , Ossos do Carpo/patologia , Carpo Animal/patologia , Estudos de Coortes , Cães , Imageamento por Ressonância Magnética/instrumentação , Masculino
15.
Acta Chir Orthop Traumatol Cech ; 85(2): 120-124, 2018.
Artigo em Tcheco | MEDLINE | ID: mdl-30295598

RESUMO

PURPOSE OF THE STUDY This study aims to evaluate the results of patients treated by proximal row carpectomy at a follow-up of at least 5 years after the surgery. MATERIAL AND METHODS A total of 25 patients were treated by proximal row carpectomy for degenerative changes of the wrist as a consequence of the previous trauma or avascular necrosis of the lunate bone, of whom 21 patients underwent a follow-up examination at least 5 years postoperatively. Proximal row carpectomy was indicated in 15 patients for SLAC wrist, in 4 patients for avascular necrosis of the lunate bone, in 1 patient for SNAC wrist, and in 1 patient for inveterate dislocation of the wrist. The follow-up clinical and radiological examinations were performed at least 5 years after the surgery. The range of wrist motion, grip strength, presence of pain at rest or pain under loads, total clinical score according to the Green and O'Brien scoring system, patient satisfaction with the outcome of surgery were assessed. By fluoroscopy the range of wrist motion, degenerative changes of the radiocapitate joint, and translation of the capitate bone with respect to the distal radius were evaluated. RESULTS Postoperative improvements in the range of motion and grip strength were confirmed. Also, the pain relief at rest and under loads was achieved. Five years after the surgery, most of the patients (85.6%) reported an overall improvement. The total clinical score according to the Green and O'Brien scoring system improved from 35.8 preoperatively to 63.1 postoperatively. DISCUSSION The advantage of this procedure is a low percentage of complications, relative technical simplicity, maintenance of functional motion of the wrist, satisfactory grip strength, and pain relief. There are no complications related to the implant, no risk of a non-union. CONCLUSIONS As shown by our results obtained 5 years after the surgery as well as the published data, in the indicated cases the proximal row carpectomy is an appropriate surgical technique to treat the degenerative changes of the wrist. In most of the patients, favourable functional results and pain relief can be expected. Key words:proximal row carpectomy, SLAC wrist, SNAC wrist, avascular necrosis of the lunate bone, dislocation of the wrist.


Assuntos
Ossos do Carpo/patologia , Ossos do Carpo/cirurgia , Procedimentos Ortopédicos/métodos , Artralgia/prevenção & controle , Ossos do Carpo/diagnóstico por imagem , Ossos do Carpo/lesões , Seguimentos , Força da Mão , Humanos , Luxações Articulares/cirurgia , Osso Semilunar/patologia , Osso Semilunar/cirurgia , Necrose , Procedimentos Ortopédicos/efeitos adversos , Complicações Pós-Operatórias , Radiografia , Amplitude de Movimento Articular , Resultado do Tratamento
16.
BMC Med Genet ; 19(1): 164, 2018 09 12.
Artigo em Inglês | MEDLINE | ID: mdl-30208859

RESUMO

BACKGROUND: Multicentric carpotarsal osteolysis syndrome (MCTO) is characterized by progressive destruction and disappearance of the carpal and tarsal bones associated with nephropathy. MCTO is caused by loss-of-function mutations in the MAF bZIP transcription factor B (MAFB) gene. CASE PRESENTATION: This report describes three unrelated patients with MAFB mutations, including two male and one female patient. Osteolytic lesions in the carpal and tarsal bones were detected at 2 years, 12 years, and 14 months of age, respectively. Associated proteinuria was noted at 4 years, 12 years, and 3 months of age, respectively. Kidney biopsy was performed in two of them and revealed focal segmental glomerulosclerosis (FSGS). One patient showed progression to end-stage renal disease, that is by 1 year after the detection of proteinuria. The second patient had persistent proteinuria but maintained normal renal function. In the third patient, who did not undergo a kidney biopsy, the proteinuria disappeared spontaneously. The bony lesions worsened progressively in all three patients. Mutational study of MAFB revealed three different mutations, two novel mutations [c.183C > A (p.Ser61Arg) and c.211C > G (p.Pro71Ala)] and one known mutation [c.212C > T (p.Pro71Leu)]. CONCLUSION: We report three cases with MCTO and two novel MAFB mutations. The renal phenotypes were different among the three patients, whereas progressive worsening of the bony lesions was common in all patients. We also confirmed FSGS to be an early renal pathologic finding in two cases. A diagnosis of MCTO should be considered in patients with progressive bone loss concentrated primarily in the carpal and tarsal bones and kidney involvement, such as proteinuria.


Assuntos
Glomerulosclerose Segmentar e Focal/genética , Mutação com Perda de Função , Fator de Transcrição MafB/genética , Osteólise/genética , Proteinúria/genética , Adolescente , Sequência de Bases , Ossos do Carpo/metabolismo , Ossos do Carpo/patologia , Pré-Escolar , Análise Mutacional de DNA , Progressão da Doença , Feminino , Expressão Gênica , Glomerulosclerose Segmentar e Focal/complicações , Glomerulosclerose Segmentar e Focal/metabolismo , Glomerulosclerose Segmentar e Focal/patologia , Humanos , Rim/metabolismo , Rim/patologia , Fator de Transcrição MafB/metabolismo , Masculino , Osteólise/complicações , Osteólise/metabolismo , Osteólise/patologia , Proteinúria/complicações , Proteinúria/metabolismo , Proteinúria/patologia , Ossos do Tarso/metabolismo , Ossos do Tarso/patologia , Adulto Jovem
17.
Medicine (Baltimore) ; 97(38): e12413, 2018 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-30235715

RESUMO

RATIONALE: Preiser disease or avascular necrosis (AVN) of the scaphoid causes intolerable wrist pain and malalignment of the carpal bones. In previously reported cases, patients have had a history of steroid use for systemic illness such as autoimmune hemolytic anemia, systemic lupus erythematosus, or renal transplantation, or have had other risk factors, such as smoking, alcoholism, or infection. In particular, systemic glucocorticoid therapy has been most commonly associated with the disease. Although there are reports of AVN of the scaphoid induced by systemic glucocorticoids, no prior report has associated AVN of the carpal bones with repeated local injections of glucocorticoids. PATIENT CONCERNS: We present a case in which it was strongly suspected that AVN of the scaphoid was induced by repeated local glucocorticoid injections. The patient had no history of excessive alcohol use, smoking, or trauma, except for local repeated steroid injections. DIAGNOSES: Initially, she had diagnosed with de Quervain's disease and was treated by repeated local glucocorticoid injections followed by surgery for de Quervain's disease. Five years after surgery for de Quervain's disease, the patient presented at our hospital with sudden onset of intolerable pain in her right wrist without a history of trauma. In spite of nonsurgical treatment with rest, immobilization, analgesia, and surgery, her wrist pain was not improved. After further repeated local steroid injections in her wrist, radiographs, and magnetic resonance imaging of her wrist showed the AVN of the scaphoid. INTERVENTIONS: Surgery was performed and the fragmented proximal scaphoid and the entire lunate were resected. OUTCOMES: The diagnosis was confirmed according to the histopathological examination of the proximal scaphoid bone, which showed the characteristic of AVN of the scaphoid. At follow-up evaluation, radiographs of the right wrist showed no progression of osteoarthritis. The patient had no tenderness or residual pain at the wrist and had no desire to pursue additional surgery. LESSONS: We have presented a case with AVN of the scaphoid, which was strongly suspected to be associated with the repeated local steroid injections. Further studies are required to more fully elucidate the association between AVN of the scaphoid and repeated local steroid injections.


Assuntos
Ossos do Carpo/patologia , Doença de De Quervain/diagnóstico , Glucocorticoides/efeitos adversos , Osteonecrose/induzido quimicamente , Osteonecrose/patologia , Osso Escafoide/patologia , Ossos do Carpo/irrigação sanguínea , Ossos do Carpo/diagnóstico por imagem , Ossos do Carpo/cirurgia , Doença de De Quervain/tratamento farmacológico , Feminino , Glucocorticoides/administração & dosagem , Glucocorticoides/uso terapêutico , Humanos , Injeções , Imageamento por Ressonância Magnética/métodos , Pessoa de Meia-Idade , Osteonecrose/diagnóstico por imagem , Osteonecrose/cirurgia , Dor/diagnóstico , Dor/etiologia , Radiografia/métodos , Osso Escafoide/irrigação sanguínea , Osso Escafoide/diagnóstico por imagem , Osso Escafoide/cirurgia , Resultado do Tratamento , Articulação do Punho/patologia
18.
Homo ; 69(3): 139-145, 2018 May.
Artigo em Inglês | MEDLINE | ID: mdl-30017377

RESUMO

This study aimed to define the differences in growth characteristics in the three most frequent causes of growth retardation - growth hormone deficiency, hypothyreosis and constitutional delay of growth and development - in order to provide diagnostic means for distinguishing these disorders. The study included 166 children with growth disorders aged 4-18 years. The height for age, the bone age using the TW3 method, the predicted height as the target height and the current prediction using the TW3 method were studied. For bone age, the radius, ulna and short bones compartment (RUS) and carpal bones (CARP) were evaluated separately and the difference in their delay in relation to chronological age (ΔBA_RUS_CARP) was determined. The relationship of the studied variables with sex and the underlying diagnosis was tested and the relationship of hypothyreosis and growth data was estimated. The model was tested on the growth data of 104 randomly selected patients with a growth disorder. The largest significant distinction was demonstrated by the difference ΔBA_RUS_CARP in hypothyreosis. The created linear regression model was highly statistically significant (χ2 = 19.4, p < 0.0001) and showed high selectivity (0.609, 95% CI 0.409; 0.808) as well as high specificity (0.864, 95% CI 0.781; 0.946). The clinical validity of the model demonstrated a 61% predictive value for the detection and an 81% successful specification of hypothyreosis. The study demonstrated the possibility of distinguishing suspected hypothyreosis from other causes of growth retardation based on differences in severity of the ossification delay in skeletal compartments of the hand.


Assuntos
Transtornos do Crescimento/diagnóstico , Hipotireoidismo/diagnóstico , Adolescente , Determinação da Idade pelo Esqueleto , Estatura , Desenvolvimento Ósseo , Ossos do Carpo/patologia , Criança , Pré-Escolar , Diagnóstico Diferencial , Feminino , Transtornos do Crescimento/patologia , Hormônio do Crescimento Humano/deficiência , Humanos , Hipotireoidismo/patologia , Modelos Lineares , Masculino , Modelos Biológicos , Rádio (Anatomia)/patologia , Ulna/patologia
19.
JBJS Case Connect ; 7(3): e54, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-29252884

RESUMO

CASE: A 29-year-old woman presented with spontaneous, isolated, total palmar scaphoid subluxation in the left hand approximately 6 weeks postpartum. She had a positive Watson scaphoid shift test, with an easily subluxable and reducible scaphoid unilaterally. She was diagnosed with scapholunate ligamentous laxity with dynamic instability. Approximately 4 months after stopping lactation, she had complete resolution of the scapholunate subluxation; there was no recurrence of symptoms over the next 5 years of follow-up. CONCLUSION: Women can have manifestations of pregnancy and lactation-related ligamentous laxity, including scapholunate instability, which may spontaneously resolve upon cessation of lactation.


Assuntos
Ossos do Carpo/diagnóstico por imagem , Luxações Articulares/diagnóstico por imagem , Instabilidade Articular/diagnóstico por imagem , Ligamentos Articulares/diagnóstico por imagem , Osso Escafoide/diagnóstico por imagem , Adulto , Ossos do Carpo/patologia , Feminino , Humanos , Lactação/fisiologia , Ligamentos Articulares/patologia , Doenças Musculares/complicações , Período Pós-Parto , Gravidez , Radiografia , Osso Escafoide/patologia , Resultado do Tratamento
20.
Plast Reconstr Surg ; 140(5): 962-970, 2017 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-29068934

RESUMO

BACKGROUND: The Resurfacing Capitate Pyrocarbon Implant associated with proximal row carpectomy has been used to treat symptomatic advanced carpal collapse, widening the indications of proximal row carpectomy to patients with capitate head arthritis. The authors retrospectively compared their case series of implant versus carpectomy alone, analyzing whether prosthetic implant outcomes could be similar to those of proximal row carpectomy even with a higher stage of osteoarthritis. METHODS: Fifty-seven patients who underwent surgery for wrist osteoarthritis (minimum follow-up, 2 years) were selected retrospectively. Twenty-five patients (scapholunate advanced collapse/scaphoid nonunion advanced collapse stage III to IV and Kienböck disease stage IV) underwent proximal row carpectomy plus Resurfacing Capitate Pyrocarbon Implant (group A); 32 patients (scapholunate advanced collapse/scaphoid nonunion advanced collapse stage I to II and Kienböck disease stage III) underwent carpectomy alone (group B). Mean follow-up was 33 months. Patients were evaluated clinically and radiographically. Patient-Rated Wrist Evaluation and Disabilities of the Arm, Shoulder, and Hand questionnaire scores were assessed. RESULTS: Group A showed consistent pain relief (visual analogue scale score of 2), while preserving wrist mobility (flexion, 27 degrees; extension, 33 degrees) and grip strength (54 percent compared with the contralateral side). Average Disabilities of the Arm, Shoulder, and Hand questionnaire score was 20, and average Patient-Rated Wrist Evaluation score was 28. No statistically significant difference was observed between groups for all outcomes, except for better extension (p < 0.05) in group B. CONCLUSIONS: Even starting from a higher grade of osteoarthritis, Resurfacing Capitate Pyrocarbon Implant plus proximal row carpectomy showed satisfying results, compared with those obtained with just carpectomy. Data show that indications for proximal row carpectomy can be widened by using the implant, without worsening outcomes. The implant could be a useful alternative to more aggressive salvage procedures in case of capitate head and lunate fossa osteoarthritis involvement. CLINICAL QUESTION/LEVEL OF EVIDENCE: Therapeutic, III.


Assuntos
Artroplastia de Substituição/métodos , Carbono , Ossos do Carpo/cirurgia , Prótese Articular , Osteoartrite/cirurgia , Articulação do Punho/cirurgia , Adulto , Idoso , Idoso de 80 Anos ou mais , Artroplastia de Substituição/instrumentação , Ossos do Carpo/diagnóstico por imagem , Ossos do Carpo/patologia , Feminino , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Osteoartrite/diagnóstico por imagem , Osteoartrite/patologia , Radiografia , Estudos Retrospectivos
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