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1.
Am J Biol Anthropol ; 183(2): e24866, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-37929663

RESUMO

OBJECTIVES: Analyses of external bone shape using geometric morphometrics (GM) and cross-sectional geometry (CSG) are frequently employed to investigate bone structural variation and reconstruct activity in the past. However, the association between these methods has not been thoroughly investigated. Here, we analyze whole bone shape and CSG variation of metacarpals 1-5 and test covariation between them. MATERIALS AND METHODS: We analyzed external metacarpal shape using GM and CSG of the diaphysis at three locations in metacarpals 1-5. The study sample includes three modern human groups: crew from the shipwrecked Mary Rose (n = 35 metacarpals), a Pre-industrial group (n = 50), and a Post-industrial group (n = 31). We tested group differences in metacarpal shape and CSG, as well as correlations between these two aspects of metacarpal bone structure. RESULTS: GM analysis demonstrated metacarpus external shape variation is predominately related to changes in diaphyseal width and articular surface size. Differences in external shape were found between the non-pollical metacarpals of the Mary Rose and Pre-industrial groups and between the third metacarpals of the Pre- and Post-industrial groups. CSG results suggest the Mary Rose and Post-industrial groups have stronger metacarpals than the Pre-industrial group. Correlating CSG and external shape showed significant relationships between increasing external robusticity and biomechanical strength across non-pollical metacarpals (r: 0.815-0.535; p ≤ 0.05). DISCUSSION: Differences in metacarpal cortical structure and external shape between human groups suggest differences in the type and frequency of manual activities. Combining these results with studies of entheses and kinematics of the hand will improve reconstructions of manual behavior in the past.


Assuntos
Ossos Metacarpais , Humanos , Metacarpo , Mãos , Diáfises , Extremidade Superior
2.
J Am Vet Med Assoc ; 262(3): 383-390, 2024 Mar 01.
Artigo em Inglês | MEDLINE | ID: mdl-38134452

RESUMO

OBJECTIVE: To evaluate and compare the prognosis for Thoroughbred racehorses to return to galloping and racing with injuries to the palmaroproximal metacarpus diagnosed with MRI. ANIMALS: 29 flat racing Thoroughbreds at the Hong Kong Jockey Club that underwent MRI between 2014 and 2022. METHODS: Clinical, radiographic, ultrasonographic, and MRI reports were collected from veterinary clinical records, and these were combined with training and racing data. Horses were categorized on the basis of MRI diagnosis: (1) proximal suspensory ligament (PSL) involvement only, (2) PSL and concurrent proximal third metacarpal (MC3) bone involvement, and (3) proximal MC3 bone involvement only. The following were compared for prognosis for return to athletic function: return to galloping or racing, and reinjury. RESULTS: Overall, the prognosis for return to athletic function was fair, with 92% (22/24; P = .53) and 67% (16/24; P = .73) of horses returning to galloping and racing, respectively. There was a relatively low reinjury rate, with 18% (4/22) of horses reinjuring. Horses with concurrent injury to both the PSL and proximal MC3 bone (Category 2) took longer to return to gallop (median, 116; IQR, 100.5 to 160), when compared with horses having only PSL injury (median, 69; IQR, 43 to 80; P = .04). Of the 4 horses that reinjured, 3 (75%) were horses in Category 2. CLINICAL RELEVANCE: The findings from this study suggest that injuries involving both PSL and proximal MC3 bone concurrently require a longer rehabilitation period than those with PSL involvement alone.


Assuntos
Fraturas Ósseas , Doenças dos Cavalos , Ossos Metacarpais , Relesões , Esportes , Cavalos , Animais , Estudos Retrospectivos , Metacarpo/lesões , Metacarpo/patologia , Ossos Metacarpais/patologia , Hong Kong , Relesões/veterinária , Prognóstico , Fraturas Ósseas/diagnóstico por imagem , Fraturas Ósseas/veterinária , Imageamento por Ressonância Magnética/veterinária , Doenças dos Cavalos/diagnóstico por imagem , Doenças dos Cavalos/patologia
3.
Int J Surg ; 109(5): 1509-1517, 2023 May 01.
Artigo em Inglês | MEDLINE | ID: mdl-37042565

RESUMO

BACKGROUND: Avascular necrosis (AVN) of the metacarpal head is a rare disease that may lead to progressive destruction of the metacarpophalangeal joint and hand function. This study aimed to describe the epidemiology, possible risk factors, clinical presentation, diagnostic workup, and treatment of the rare condition of avascular necrosis of the metacarpal head. METHODS: Articles were searched using the subject words "Dieterich disease","Mauclaire's disease", and "avascular necrosis of metacarpal head" in the PubMed and Scopus databases. Studies were retained for review after meeting the inclusion criteria. Those outcomes relevant to diagnose and assessing AVN of the metacarpal head and those related to curative management were extracted. RESULTS: The literature search revealed 45 studies with 55 patients. Although the aetiology of osteonecrosis has not been clearly delineated, AVN of the metacarpal head most commonly arises from trauma but other risk factors may also be involved. Plain radiographs are often negative and therefore likely to be missed. Early-stage osteonecrosis of the metacarpal head was best assessed using MRI. Given the rarity of this condition, there is no clear consensus on the treatment. CONCLUSIONS: Avascular necrosis of the metacarpal head should be considered in the differential diagnosis of painful metacarpophalangeal joints. An early understanding of this unusual disease will provide an optimal clinical outcome, restoring joint activity, and resolving pain. Nonoperative treatment cannot cure all patients. Surgical management is based on the patient and lesion characteristics.


Assuntos
Ossos Metacarpais , Osteonecrose , Humanos , Ossos Metacarpais/patologia , Metacarpo/patologia , Metacarpo/cirurgia , Osteonecrose/terapia , Osteonecrose/diagnóstico por imagem , Radiografia , Artralgia
4.
Handchir Mikrochir Plast Chir ; 55(3): 237-241, 2023 Jun.
Artigo em Alemão | MEDLINE | ID: mdl-35853470

RESUMO

We report a case of a 67-year-old patient with avascular necrosis of the metacarpal head of the right middle finger reconstructed using an osteochondral autograft from the ipsilateral os pisiforme.


Assuntos
Fraturas Intra-Articulares , Ossos Metacarpais , Osteonecrose , Pisciforme , Humanos , Idoso , Ossos Metacarpais/cirurgia , Osteonecrose/cirurgia , Metacarpo
5.
Vet Surg ; 52(1): 26-32, 2023 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-36161662

RESUMO

OBJECTIVE: To report the outcome of foals treated for metacarpophalangeal varus deformity with a single-incision drilling technique for hemiepiphysiodesis of the distal lateral metacarpal physis. STUDY DESIGN: Retrospective case-control cohort study. ANIMALS: Thoroughbred foals (n = 207), 171 age- and sex-matched maternal siblings. METHODS: Medical records (2017-2020) were reviewed for signalment, limb(s) treated, location of the surgery, and any reported complications. Follow-up radiographs obtained for the yearling sale were assessed for abnormalities. Horses were matched to maternal siblings using an online database. Sales and racing performance data were compared between cohorts. RESULTS: The average age at the time of surgery was 97 days. The treated limb was the left front in 52, right front in 31, both fronts in 119, unknown in 5. Three horses developed calcinosis circumscripta lesions adjacent to the physis, which were removed successfully. No radiographic abnormalities associated with the surgery site were detected on yearling prepurchase radiographs. There were no differences in sales and racing performance data between treated horses and maternal controls. CONCLUSION: Hemiepiphysiodesis is a safe and effective treatment for metacarpophalangeal varus deformities in foals. No negative effect on sales or racing performance was identified. CLINICAL SIGNIFICANCE: This technique avoids risks, costs, and the need for second surgery associated with an orthopedic implant. The surgeon should be aware of the potential for development of a calcinosis circumscripta lesion with this technique.


Assuntos
Doenças dos Cavalos , Ossos Metacarpais , Animais , Cavalos , Ossos Metacarpais/cirurgia , Metacarpo , Estudos Retrospectivos , Estudos de Casos e Controles , Resultado do Tratamento , Doenças dos Cavalos/cirurgia
6.
Vet Surg ; 51(7): 1070-1077, 2022 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-35834384

RESUMO

OBJECTIVE: To determine the ability of a commercial cryotherapy system (Game Ready Equine) to cool the metacarpal subcutaneous tissue and the superficial digital flexor tendon (SDFT) in horses. STUDY DESIGN: Experimental study. ANIMALS OR SAMPLE POPULATION: Six healthy adult horses. METHODS: Thermocouples were implanted into the metacarpal subcutaneous tissues and the SDFT of six horses. Two treatments (cryotherapy or cryotherapy with 5-50 mmHg intermittent compression) were randomly assigned to forelimbs and performed for 20 minutes. Temperatures were compared to the target range of 10-19°C and between groups. RESULTS: Only one limb in the cryotherapy/compression group reached the target range after cryotherapy. Temperatures did not differ between treatment groups at time 0. Lowest temperatures achieved in the subcutaneous tissue (p = .0043) and SDFT (p = .005) were 4.9 and 7.6°C lower when intermittent compression was applied. Similarly, applying compression induced a maximum change in temperature of approximately 7.0°C in the subcutaneous tissue (p = .014) and 10.2°C in the SDFT (p = .0001). CONCLUSION: The cryotherapy system did not cool equine subcutaneous tissue or SDFT to the target temperature range, except in one limb. Combining cryotherapy with intermittent compression did result in lower temperatures and a greater change in temperature of the subcutaneous tissue and SDFT. CLINICAL SIGNIFICANCE: When using this cryotherapy system, the addition of intermittent compression should be considered to achieve lower temperatures and potentially greater reduction in inflammation. Further studies are warranted to determine the effect of longer treatment times, higher compression settings, and the optimal temperature for benefits in normal and diseased equine tissues.


Assuntos
Ossos Metacarpais , Metacarpo , Animais , Crioterapia/veterinária , Membro Anterior , Cavalos , Tendões
7.
Vet Surg ; 51(6): 914-919, 2022 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-35524683

RESUMO

OBJECTIVE: To describe an arthroscopic technique for the removal of osteochondral fragments located within the condylar fossa of the third metacarpal/tarsal bone. STUDY DESIGN: Retrospective study. ANIMALS: Thoroughbred yearlings (n = 11). METHODS: Osteochondral fragments located within the condylar fossa of the third metacarpal/tarsal bone identified during presale radiographic examination were removed via arthroscopy, assisted with ultrasonography in select cases. Complete fragment removal was confirmed by intraoperative radiography. RESULTS: Fragments were successfully removed using rongeurs following dissection of soft tissue attachments using a bipolar radiofrequency probe. No postoperative complications occurred. CONCLUSIONS: An ipsilateral arthroscopic and instrument portal coupled with ultrasound assistance and a radiofrequency probe allowed for successful removal of fragments located within the condylar fossa of the third metacarpal/tarsal bone. The technique allowed for the removal of the unstable osteochondral fragment and associated physical debris. CLINICAL SIGNIFICANCE: The described surgical technique enables the removal of osteochondral fragments located within the condylar fossa of the third metacarpal/tarsal bone with minimal disruption to the surrounding soft tissues.


Assuntos
Doenças dos Cavalos , Ossos Metacarpais , Animais , Artroscopia/métodos , Artroscopia/veterinária , Doenças dos Cavalos/cirurgia , Cavalos , Metacarpo , Metatarso , Estudos Retrospectivos
8.
Anat Histol Embryol ; 51(4): 484-491, 2022 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-35608253

RESUMO

The aim of the study was to perform the morphometric analyses on metacarpi of Hamdani sheep via different measurement methods and to compare the methods. Thus, metacarpal bones of 15 females and 15 males were used in the study. Measurements were taken from the measurement points determined on metacarpus via four methods, and their statistical analyses were performed. When both male and female metacarpal bones were examined in the De parameter in the comparison with the methods, it was observed that the four measurement methods were different from one another (p < 0.01). When DEM and DEL measurement parameters were examined in male metacarpus, the highest value was measured in ImageJ and the smallest value was measured in 3D Slicer software; however, it was found that the statistical difference was not significant when compared numerically (p > 0.05). As a result, while it was observed that the measurements made by using digital calliper measurements, photometric analysis, and 3D software were similar in some of the parameters but there was no statistically significant difference; whereas, Statistical difference was detected in some parameters.


Assuntos
Ossos Metacarpais , Metacarpo , Animais , Feminino , Masculino , Ovinos
9.
Nucleic Acids Res ; 50(10): 5850-5863, 2022 06 10.
Artigo em Inglês | MEDLINE | ID: mdl-35580046

RESUMO

DDX58 encodes RIG-I, a cytosolic RNA sensor that ensures immune surveillance of nonself RNAs. Individuals with RIG-IE510V and RIG-IQ517H mutations have increased susceptibility to Singleton-Merten syndrome (SMS) defects, resulting in tissue-specific (mild) and classic (severe) phenotypes. The coupling between RNA recognition and conformational changes is central to RIG-I RNA proofreading, but the molecular determinants leading to dissociated disease phenotypes remain unknown. Herein, we employed hydrogen/deuterium exchange mass spectrometry (HDX-MS) and single molecule magnetic tweezers (MT) to precisely examine how subtle conformational changes in the helicase insertion domain (HEL2i) promote impaired ATPase and erroneous RNA proofreading activities. We showed that the mutations cause a loosened latch-gate engagement in apo RIG-I, which in turn gradually dampens its self RNA (Cap2 moiety:m7G cap and N1-2-2'-O-methylation RNA) proofreading ability, leading to increased immunopathy. These results reveal HEL2i as a unique checkpoint directing two specialized functions, i.e. stabilizing the CARD2-HEL2i interface and gating the helicase from incoming self RNAs; thus, these findings add new insights into the role of HEL2i in the control of antiviral innate immunity and autoimmunity diseases.


Assuntos
Doenças Autoimunes , Odontodisplasia , Doenças Autoimunes/genética , Proteína DEAD-box 58/química , Proteína DEAD-box 58/genética , RNA Helicases DEAD-box/química , RNA Helicases DEAD-box/genética , Humanos , Imunidade Inata/genética , Metacarpo , RNA/química
10.
Pediatr Rheumatol Online J ; 20(1): 24, 2022 Apr 11.
Artigo em Inglês | MEDLINE | ID: mdl-35410415

RESUMO

BACKGROUND: Singleton-Merten syndrome 1 (SGMRT1) is a rare type I interferonopathy caused by heterozygous mutations in the IFIH1 gene. IFIH1 encodes the pattern recognition receptor MDA5 which senses viral dsRNA and activates antiviral type I interferon (IFN) signaling. In SGMRT1, IFIH1 mutations confer a gain-of-function which causes overactivation of type I interferon (IFN) signaling leading to autoinflammation. CASE PRESENTATION: We report the case of a nine year old child who initially presented with a slowly progressive decline of gross motor skill development and muscular weakness. At the age of five years, he developed osteoporosis, acro-osteolysis, alveolar bone loss and severe psoriasis. Whole exome sequencing revealed a pathogenic de novo IFIH1 mutation, confirming the diagnosis of SGMRT1. Consistent with constitutive type I interferon activation, patient blood cells exhibited a strong IFN signature as shown by marked up-regulation of IFN-stimulated genes. The patient was started on the Janus kinase (JAK) inhibitor, ruxolitinib, which inhibits signaling at the IFN-α/ß receptor. Within days of treatment, psoriatic skin lesions resolved completely and the IFN signature normalized. Therapeutic efficacy was sustained and over the course muscular weakness, osteopenia and growth also improved. CONCLUSIONS: JAK inhibition represents a valuable therapeutic option for patients with SGMRT1. Our findings also highlight the potential of a patient-tailored therapeutic approach based on pathogenetic insight.


Assuntos
Interferon Tipo I , Osteoporose , Doenças da Aorta , Criança , Pré-Escolar , Hipoplasia do Esmalte Dentário , Humanos , Helicase IFIH1 Induzida por Interferon/genética , Masculino , Metacarpo/anormalidades , Debilidade Muscular , Doenças Musculares , Nitrilas , Odontodisplasia , Osteoporose/genética , Pirazóis , Pirimidinas , Calcificação Vascular
11.
Anat Rec (Hoboken) ; 305(12): 3385-3397, 2022 12.
Artigo em Inglês | MEDLINE | ID: mdl-35338614

RESUMO

Racehorses are exposed to repetitive overload during training and competition, causing joint hyperextension, tissue fatigue, and ultimately skeletal failure. Some degree of bone changes, such as sclerosis, are expected in equine athletes, as adaptation to the biomechanical rigors of training and racing. Understanding the imaging characteristics of the equine joint surface and subchondral bone would allow earlier detection of injuries or adaptation, improving prognosis and training programs. This study sought to describe the joint surface structural patterns and the periarticular structures of the third metacarpal bone (MC3). Both forelimbs of eight horses engaged in daily training programs, aged 3-5 years, which were euthanized for reasons unrelated to the metacarpophalangeal (MCP) joints, were collected. Specimens were evaluated through macroscopic inspection, radiography, ultrasonography, and microscopic examinations, such as optical microscopy and microtomography. Analysis of the microtomography images showed that 50% of the samples had higher trabecular thickness in the lateral condyle. Comparison of each imaging examination revealed that ultrasound images were most closely related to the histological examination (p = .29) in terms of sensitivity, while macroscopic and radiographic examinations differed most between evaluators. Finally, the irregularities and modifications observed in the articular cartilage surface and subchondral bone were normal adaptations of the anatomical structures of trained racehorses, which should be considered during clinical examination.


Assuntos
Cartilagem Articular , Doenças dos Cavalos , Ossos Metacarpais , Condicionamento Físico Animal , Cavalos , Animais , Ossos Metacarpais/diagnóstico por imagem , Metacarpo/lesões , Metacarpo/patologia , Cartilagem Articular/diagnóstico por imagem , Cartilagem Articular/patologia , Doenças dos Cavalos/etiologia , Doenças dos Cavalos/patologia
12.
Sensors (Basel) ; 22(3)2022 Jan 18.
Artigo em Inglês | MEDLINE | ID: mdl-35161452

RESUMO

The development of on-board technologies has enabled the development of quantification systems to monitor equine locomotion parameters. Their relevance among others relies on their ability to determine specific locomotor events such as foot-on and heel-off events. The objective of this study was to compare the accuracy of different methods for an automatic gait events detection from inertial measurement units (IMUs). IMUs were positioned on the cannon bone, hooves, and withers of seven horses trotting on hard and soft straight lines and circles. Longitudinal acceleration and angular velocity around the latero-medial axis of the cannon bone, and withers dorso-ventral displacement data were identified to tag the foot-on and a heel-off events. The results were compared with a reference method based on hoof-mounted-IMU data. The developed method showed bias less than 1.79%, 1.46%, 3.45% and -1.94% of stride duration, respectively, for forelimb foot-on and heel-off, and for hindlimb foot-on and heel-off detection, compared to our reference method. The results of this study showed that the developed gait-events detection method had a similar accuracy to other methods developed for straight line analysis and extended this validation to other types of exercise (circles) and ground surface (soft surface).


Assuntos
Casco e Garras , Metacarpo , Animais , Fenômenos Biomecânicos , Membro Anterior , Marcha , Cavalos
13.
Open Vet J ; 12(5): 649-656, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36589408

RESUMO

Background: It is vital to understand the gross anatomy and dimensions of the metacarpal and metatarsal bones in camels in order for veterinarians to identify fraud cases between males and females by carefully distinguishing between them. Aim: It is to make comparisons of the morphological characteristics and measurements of the metacarpus and metatarsus bones of male and female camels. Methods: Forty metacarpus and metatarsus of adult camels of both sexes were collected from a typical Burydah slaughterhouse in KSA. The bones were treated according to the established methods of boiling, drying, and bleaching to study morphology. The measurement of the bones in this study has been taken by using digital vernier calipers. Results: The metacarpus and metatarsus consisted of two large and two small bones. The large metacarpal and metatarsal bones consisted of fused III and IV. Except for the distal side in which the two bones diverge more from each other. The metacarpal bone is similar to the metatarsus, except that it is smaller in measurement majority. The small Mc-Mt II and Mc-Mt V were smaller and present on the palmo-lateral or planto-lateral aspect of the large bones, respectively. The length of the metacarpus and metatarsus is almost equal nearly in camels unlike the rest of the animals as well as the metacarpus bone was unlike the metatarsus in form and measurements generally. Conclusion: The large metacarpus and metatarsus bones are distinguished by the fusion of the third and fourth bones along the length of the bone. Except for the distal side in which the two bones diverge more from each other like the rest of the animals. The morphologically characterized majority of the metacarpal bone was similar to the metatarsus, except that it was proximal extremity, cross-section, and measurement.


Assuntos
Ossos Metacarpais , Ossos do Metatarso , Masculino , Feminino , Animais , Camelus , Metatarso , Metacarpo
14.
J Med Genet ; 59(3): 294-304, 2022 03.
Artigo em Inglês | MEDLINE | ID: mdl-33495304

RESUMO

BACKGROUND: Singleton-Merten syndrome (SGMRT) is a rare immunogenetic disorder that variably features juvenile open-angle glaucoma (JOAG), psoriasiform skin rash, aortic calcifications and skeletal and dental dysplasia. Few families have been described and the genotypic and phenotypic spectrum is poorly defined, with variants in DDX58 (DExD/H-box helicase 58) being one of two identified causes, classified as SGMRT2. METHODS: Families underwent deep systemic phenotyping and exome sequencing. Functional characterisation with in vitro luciferase assays and in vivo interferon signature using bulk and single cell RNA sequencing was performed. RESULTS: We have identified a novel DDX58 variant c.1529A>T p.(Glu510Val) that segregates with disease in two families with SGMRT2. Patients in these families have widely variable phenotypic features and different ethnic background, with some being severely affected by systemic features and others solely with glaucoma. JOAG was present in all individuals affected with the syndrome. Furthermore, detailed evaluation of skin rash in one patient revealed sparse inflammatory infiltrates in a unique distribution. Functional analysis showed that the DDX58 variant is a dominant gain-of-function activator of interferon pathways in the absence of exogenous RNA ligands. Single cell RNA sequencing of patient lesional skin revealed a cellular activation of interferon-stimulated gene expression in keratinocytes and fibroblasts but not in neighbouring healthy skin. CONCLUSIONS: These results expand the genotypic spectrum of DDX58-associated disease, provide the first detailed description of ocular and dermatological phenotypes, expand our understanding of the molecular pathogenesis of this condition and provide a platform for testing response to therapy.


Assuntos
Exantema , Glaucoma de Ângulo Aberto , Odontodisplasia , Proteína DEAD-box 58/genética , Exantema/patologia , Glaucoma de Ângulo Aberto/patologia , Humanos , Interferons/genética , Metacarpo/patologia , Odontodisplasia/genética , Odontodisplasia/patologia , Receptores Imunológicos
15.
Am J Med Genet A ; 188(1): 249-252, 2022 01.
Artigo em Inglês | MEDLINE | ID: mdl-34453469

RESUMO

Pathogenic-activating variants of interferon induced with Helicase C domain 1 (IFIH1) cause Singleton-Merten (S-M) syndrome, which accompanies acro-osteolysis, loss of permanent teeth, and aortic calcification, as well as causing Aicardi-Goutières (A-G) syndrome, which shows progressive encephalopathy, spastic paraplegia, and calcification of basal ganglia. Recently, patients with overlapping syndromes presenting with features of S-M syndrome and A-G syndrome were reported. However, progression of clinical features of this condition has not been fully understood. We report a Japanese boy with a novel pathogenic IFIH1 variant who presented with clinical features of S-M syndrome and A-G syndrome.


Assuntos
Doenças Autoimunes do Sistema Nervoso , Interferons , Doenças da Aorta , Doenças Autoimunes do Sistema Nervoso/diagnóstico , Doenças Autoimunes do Sistema Nervoso/genética , Doenças Autoimunes do Sistema Nervoso/patologia , Hipoplasia do Esmalte Dentário , Humanos , Helicase IFIH1 Induzida por Interferon/genética , Japão , Masculino , Metacarpo/anormalidades , Doenças Musculares , Malformações do Sistema Nervoso , Odontodisplasia , Osteoporose , Calcificação Vascular
16.
J Equine Vet Sci ; 105: 103693, 2021 10.
Artigo em Inglês | MEDLINE | ID: mdl-34607693

RESUMO

A 20-year-old British Warmblood gelding was presented for a progressively worsening right forelimb lameness which developed following an intense dressage training session. Initial ultrasound examination revealed a triangular, intrathecal, hypoechoic region within the superficial digital flexor tendon (SDFT) in the proximal, palmar carpal region distal to the accessory carpal bone (ACB), extending 7cm distally into the proximal metacarpal region. No significant improvement in clinical presentation was observed following an eight-week rehabilitation programme. Repeat ultrasound examination revealed an enlarged cross-sectional area of affected tendon. Due to a poor clinical response to conservative treatment, combined with increasingly marked severity of the lameness, the horse was humanely euthanised and the affected SDFT was submitted for macroscopic and histopathological examination at the University of Liverpool. This revealed an approximately 70mm-elongated, focally extensive mass located within the SDFT. On cross-section, the mass was poorly delineated, irregularly triangular, focally haemorrhagic, firm, 15 × 12mm wide and eccentrically placed towards the palmar aspect of the tendon. Histopathological examination identified a moderately to highly cellular, infiltrative, poorly demarcated mesenchymal neoplasm comprised of streams of moderately atypical spindloid cells including bizarre mitoses. Intratendinous fibroma is an uncommonly recorded human neoplasm and this case represents the third reported case of this entity in the horse, the first in an adult horse and the first to be identified in the SDFT.


Assuntos
Ossos do Carpo , Fibroma , Doenças dos Cavalos , Animais , Fibroma/diagnóstico por imagem , Fibroma/veterinária , Doenças dos Cavalos/diagnóstico por imagem , Cavalos , Masculino , Metacarpo , Tendões/diagnóstico por imagem
17.
Biomolecules ; 11(8)2021 08 21.
Artigo em Inglês | MEDLINE | ID: mdl-34439917

RESUMO

Melanoma differentiation-associated protein 5 (MDA5) is a crucial RIG-I-like receptor RNA helicase enzyme encoded by IFIH1 in humans. Single nucleotide polymorphisms in the IFIH1 results in fatal genetic disorders such as Aicardi-Goutières syndrome and Singleton-Merten syndrome, and in increased risk of type I diabetes in humans. In this study, we chose four different amino acid substitutions of the MDA5 protein responsible for genetic disorders: MDA5L372F, MDA5A452T, MDA5R779H, and MDA5R822Q and analyzed their structural and functional relationships using molecular dynamic simulations. Our results suggest that the mutated complexes are relatively more stable than the wild-type MDA5. The radius of gyration, interaction energies, and intra-hydrogen bond analysis indicated the stability of mutated complexes over the wild type, especially MDA5L372F and MDA5R822Q. The dominant motions exhibited by the wild-type and mutant complexes varied significantly. Moreover, the betweenness centrality of the wild-type and mutant complexes showed shared residues for intra-signal propagation. The observed results indicate that the mutations lead to a gain of function, as reported in previous studies, due to increased interaction energies and stability between RNA and MDA5 in mutated complexes. These findings are expected to deepen our understanding of MDA5 variants and may assist in the development of relevant therapeutics against the disorders.


Assuntos
Doenças da Aorta/genética , Doenças Autoimunes do Sistema Nervoso/genética , Hipoplasia do Esmalte Dentário/genética , Helicase IFIH1 Induzida por Interferon/genética , Metacarpo/anormalidades , Doenças Musculares/genética , Mutação , Malformações do Sistema Nervoso/genética , Odontodisplasia/genética , Osteoporose/genética , Calcificação Vascular/genética , Biologia Computacional , Humanos , Ligação de Hidrogênio , Helicase IFIH1 Induzida por Interferon/fisiologia , Conformação Molecular , Simulação de Dinâmica Molecular , Proteínas Mutantes/genética , Mutação de Sentido Incorreto , Fenótipo , Análise de Componente Principal , RNA/metabolismo , Termodinâmica
18.
Am J Med Genet A ; 185(10): 3170-3175, 2021 10.
Artigo em Inglês | MEDLINE | ID: mdl-34189824

RESUMO

Singleton-Merten syndrome (SMS) is a type I interferonopathy. In this report, we disclose the first-to the best of our knowledge-direct association of SMS with femoral head necrosis (FHN). The following case report presents the condition of a 38-year-old male suffering from SMS with FHN, characterized by acute symptoms and rapid disease progression. As per the recommendations of the Association Research Circulation Osseous (ARCO) and the S3-guidelines, we successfully treated the FHN with core decompression. Our histological results correlate with the changes described in medical literature in patients with SMS and MDA5-knockout in vivo experiments such as osteopenia, widened medullary cavity, and thin cortical bone. Moreover, the conducted immunohistochemistry shows strong CD56 positivity of the osteoblasts and osteocytes, as well as significant CD68 and CD163 positivity of the middle-sized osteoclasts. Collectively, these findings suggest an underlying syndrome in the FHN. A six-month post-operative follow-up revealed complete recovery with the absence of the initial symptoms and ability to resume normal daily activities. Taken together, our findings suggest that SMS is an additional cause of FHN in young adults. Early detection and adequate treatment using well-established joint-preserving techniques demonstrate a favorable improvement of the patient's clinical condition.


Assuntos
Doenças da Aorta/genética , Hipoplasia do Esmalte Dentário/genética , Necrose da Cabeça do Fêmur/genética , Interferons/genética , Metacarpo/anormalidades , Doenças Musculares/genética , Odontodisplasia/genética , Osteoporose/genética , Anormalidades da Pele/genética , Calcificação Vascular/genética , Adulto , Antígenos CD/genética , Antígenos de Diferenciação Mielomonocítica/genética , Doenças da Aorta/complicações , Doenças da Aorta/patologia , Antígeno CD56/genética , Hipoplasia do Esmalte Dentário/complicações , Hipoplasia do Esmalte Dentário/patologia , Cabeça do Fêmur/patologia , Necrose da Cabeça do Fêmur/complicações , Necrose da Cabeça do Fêmur/patologia , Humanos , Masculino , Metacarpo/patologia , Doenças Musculares/complicações , Doenças Musculares/patologia , Odontodisplasia/complicações , Odontodisplasia/patologia , Osteoporose/complicações , Osteoporose/patologia , Receptores de Superfície Celular/genética , Anormalidades da Pele/patologia , Resultado do Tratamento , Calcificação Vascular/complicações , Calcificação Vascular/patologia
19.
Medicine (Baltimore) ; 100(20): e26083, 2021 05 21.
Artigo em Inglês | MEDLINE | ID: mdl-34011129

RESUMO

RATIONALE: Avascular necrosis (AVN) of the metacarpal head is rare, and there is no clear consensus on treatment. The main aim of this study was to discuss the possible pathologic-mechanics of its development, epidemiology, radiographic features, and outcome after conservative treatment. PATIENT CONCERNS: A 14-year-old male with a history of fractures in little finger complained of right-hand pain with a limited range of motion for 1 month. Diagnosis: Imaging examination confirmed the diagnosis of AVN in the long metacarpal finger and ring finger. INTERVENTIONS: The patient was treated using non-surgical management, such as splint immobilization, non-steroidal anti-inflammatory drugs, and physiotherapy. OUTCOMES: At the last follow-up 26 months later, the patient was in complete remission with no residual symptoms. Magnetic resonance imaging (MRI) confirmed excellent remodeling and regeneration in the metacarpal head. LESSONS: Metacarpal head necrosis typically occurs in adolescent patients with a history of trauma. Conservative treatment may sometimes have an excellent prognosis.


Assuntos
Tratamento Conservador , Metacarpo/anormalidades , Osteonecrose/diagnóstico , Osteonecrose/terapia , Adolescente , Humanos , Masculino , Osteonecrose/etiologia
20.
Hum Brain Mapp ; 42(7): 2262-2277, 2021 05.
Artigo em Inglês | MEDLINE | ID: mdl-33621380

RESUMO

Many studies focused on the cortical representations of fingers, while the palm is relatively neglected despite its importance for hand function. Here, we investigated palm representation (PR) and its relationship with finger representations (FRs) in primary somatosensory cortex (S1). Few studies in humans suggested that PR is located medially with respect to FRs in S1, yet to date, no study directly quantified the somatotopic organization of PR and the five FRs. Importantly, the link between the somatotopic organization of PR and FRs and their activation properties remains largely unexplored. Using 7T fMRI, we mapped PR and the five FRs at the single subject level. First, we analyzed the cortical distance between PR and FRs to determine their somatotopic organization. Results show that PR was located medially with respect to D5. Second, we tested whether the observed cortical distances would predict the relationship between PR and FRs activations. Using three complementary measures (cross-activations, pattern similarity and resting-state connectivity), we show that the relationship between PR and FRs activations were not determined by their somatotopic organization, that is, there was no gradient moving from D5 to D1, except for resting-state connectivity, which was predicted by the somatotopy. Instead, we show that the representational geometry of PR and FRs activations reflected the physical structure of the hand. Collectively, our findings suggest that the spatial proximity between topographically organized neuronal populations do not necessarily predicts their functional properties, rather the structure of the sensory space (e.g., the hand shape) better describes the observed results.


Assuntos
Mapeamento Encefálico , Dedos/fisiologia , Metacarpo/fisiologia , Córtex Somatossensorial/fisiologia , Adolescente , Feminino , Humanos , Imageamento por Ressonância Magnética , Masculino , Córtex Somatossensorial/diagnóstico por imagem , Adulto Jovem
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