Bilateral non-traumatic elbow luxation in a Yorkshire terrier puppy.

A 10-week-old Yorkshire terrier had lameness of the right forelimb with complete lateral radioulnar luxation at the humerus, consistent with Type III congenital elbow luxation; this is rarely treated in the presence of multiple skeletal deformities. Lateral subluxation of the radial head at the left elbow was diagnosed as Type I congenital elbow luxation. Procurvatum, distal valgus, and external torsion were present in both antebrachiae. Surgical stabilization of the right elbow was performed with temporary transarticular pins in the humeroulnar and radioulnar joints. A custom-made orthosis was applied to support the surgical reduction for 20 wk. Recurrent luxation was not observed. After complete right-sided function was established, the left forelimb showed noticeable instability in the antebrachium, and the puppy frequently fell while running. The lateral collateral ligament of the left elbow was augmented using screws and synthetic ligaments 22 wk after the right-side surgery. Congruity of the left elbow joint improved, and the puppy could bear full weight on the left forelimb, although slight deficits in movement and falling were observed. We demonstrate the effectiveness of combining a temporary transarticular pin and custom-made orthosis while treating Type III congenital elbow luxation and the inadequacy of collateral ligament augmentation alone for treating Type I congenital elbow luxation with antebrachium deformities. Key clinical message: Herein, we observed that a combination of a temporary transarticular pin and a custom-made orthosis was effective for the treatment of Type III congenital elbow luxations.

Luxation bilatérale non traumatique du coude chez un chiot Yorkshire terrier. Un Yorkshire terrier de 10 semaines présentait une boiterie du membre antérieur droit avec une luxation radio-ulnaire latérale complète au niveau de l'humérus, compatible avec une luxation congénitale du coude de type III; ceci est rarement traité en présence de multiples déformations squelettiques. La subluxation latérale de la tête radiale au niveau du coude gauche a été diagnostiquée comme une luxation congénitale du coude de type I. Procurvatum, valgus distal et torsion externe étaient présents dans les deux sections antébrachiales. La stabilisation chirurgicale du coude droit a été réalisée avec des broches trans-articulaires temporaires dans les articulations huméro-ulnaire et radio-ulnaire. Une orthèse sur mesure a été appliquée pour soutenir la réduction chirurgicale pendant 20 semaines. Aucune luxation récurrente n'a été observée. Une fois la fonction complète du côté droit établie, le membre antérieur gauche a montré une instabilité notable de la section antébrachiale et le chiot tombait fréquemment en courant. Le ligament collatéral latéral du coude gauche a été augmenté à l'aide de vis et de ligaments synthétiques 22 semaines après la chirurgie du côté droit. La congruence de l'articulation du coude gauche s'est améliorée et le chiot pouvait supporter tout son poids sur le membre antérieur gauche, bien que de légers déficits de mouvement et des chutes aient été observés. Nous démontrons l'efficacité de la combinaison d'une broche trans-articulaire temporaire et d'une orthèse sur mesure dans le traitement de la luxation congénitale du coude de type III et l'insuffisance de l'augmentation du ligament collatéral seule pour traiter la luxation congénitale du coude de type I avec des déformations de la section antébrachiale.Message clinique clé:Ici, nous avons observé qu'une combinaison d'une broche trans-articulaire temporaire et d'une orthèse sur mesure était efficace pour le traitement des luxations congénitales du coude de type III.(Traduit par Dr Serge Messier).

Investigação de marcadores moleculares sanguíneos durante a infecção pelo vírus Chikungunya / Investigation of blood molecular markers during Chikungunya virus infection

A febre Chikungunya (CHIKF) é uma infecção viral causada pelo vírus Chikungunya (CHIKV). Os sintomas agudos incluem febre alta de início súbito, erupção cutânea, poliartrite e poliartralgia. Embora a infecção geralmente seja resolvida em menos de duas semanas, muitos pacientes experenciam recorrente dor e inflamação nas articulações, que podem persistir por anos. Esse estudo buscou marcadores moleculares no sangue de infectados pelo CHIKV que estejam associados a dor articular e cronicidade da CHIKF. O sequenciamento de receptores de células B (BCR) e T (TCR) demonstrou que a infecção por CHIKV diminui a diversidade desses receptores. Essa diversidade é ainda menor, durante a fase aguda da infecção, naqueles pacientes que irão desenvolver cronicidade. A menor diversidade de BCR em infectados está associada a um aumento na expressão de genes envolvidos na diferenciação e ativação de osteoclastos pela sinalização RANK/RANKL. Em adição, a cronicidade pode estar relacionada um aumento na expressão do gene ZBTB7A cuja expressão confere maior resistência a apoptose em precursores de osteoclastos naqueles pacientes que vão se tornar crônicos. Caso o envolvimento dos osteoclastos durante a patogênese de CHIKF seja confirmado, os pacientes poderão se beneficiar de abordagens terapêuticas já existentes como alternativas adicionais ao tratamento de CHIKF

Chikungunya fever (CHIKF) is a viral infection caused by the Chikungunya virus (CHIKV). Acute symptoms include sudden-onset high fever, rash, polyarthritis, and polyarthralgia. Although the infection usually resolves within two weeks, many patients experience recurrent joint pain and inflammation, which can persist for years. This study sought molecular markers in the blood of CHIKV-infected individuals that are associated with joint pain and chronicity of CHIKF. Sequencing of B (BCR) and T (TCR) cell receptors demonstrated that CHIKV infection decreases the diversity of these receptors. The diversity is even lower, during the acute phase of the infection, in those patients who will develop chronicity. The lower diversity of BCR in infected individuals is associated with an increase in the expression of genes involved in the differentiation and activation of osteoclasts by RANK/RANKL signaling. In addition, chronicity may be related to an increase in the expression of the ZBTB7A gene whose expression confers greater resistance to apoptosis in osteoclast precursors in those patients who will become chronic. If osteoclast role during CHIKF pathogenesis is confirmed, patients may benefit from existing therapeutic approaches as additional alternatives to CHIKF treatment

Research Note: Comparing methods to assess Valgus-Varus deformity in broiler chickens.

Valgus-varus deformity (VVD) is one of the leg disorders affecting health and welfare of broiler chickens. In research, several protocols are used to determine the prevalence and/or severity of VVD. This study aimed to investigate effects of five different protocols on the angulation of the tibiotarsal-tarsometatarsal joint. Angulation was determined (1) in living chickens with fixation at the femorotibiotarsal joint; (2) in dead chickens without fixation; (3) in dead chickens with fixation; (4) in dissected legs, including muscles, but without skin; (5) in dissected legs, without muscles, but with intact joints. Fixation of the leg at the femorotibiotarsal joint largely reduced the angulation of the tibiotarsal-tarsometatarsal joint. When fixation was used, no differences in angulation were found when broilers were live, dead or legs were dissected, but when no fixation was used, angulation was considerably higher, due to a large lateral deviation of the leg. It can be concluded that in intact chickens, fixation of the femorotibiotarsal joint is essential to determine VVD angulation in an appropriate way.

Chemical study of Adenocalymma axillarum crude leaf extract and isolated compounds

Abstract Adenocalymma axillarum (K.Schum.) L.G. Lohmann is a liana belonging to the family Bignoniaceae. In traditional medicine, the genus Adenocalymma is used to treat fever, skin ailments, and body, joint, and facial muscle pains, and it is also applied as cosmetic. Biological assays conducted with the A. axillarum crude leaf ethanol extract have indicated leishmanicidal activity and absence of cytotoxicity. This study aimed to analyze the A. axillarum leaf ethanol crude extract by high-performance liquid chromatography-high-resolution mass spectrometry- diode array detector (HPLC-HRMS-DAD) and to evaluate the leishmanicidal and cytotoxic activities of this crude extract, its fractions, and isolated compounds. HPLC-HRMS-DAD analysis of this extract revealed that it consisted mainly of flavonoids, with nine major compounds. Extract purification yielded 4-hydroxy-N-methylproline, 6-β-hydroxyipolamiide, quercetin-3-O-robinobioside, hyperin, isorhamnetin-3-O-robinobioside, and 3'-O-methylhyperin, which were identified by Nuclear Magnetic Resonance. The isolated compounds were inactive against Leishmania amazonensis promastigotes and human lung fibroblast cells.

A lifespan approach to osteoarthritis prevention.

Prevention is an attractive solution for the staggering and increasingly unmanageable burden of osteoarthritis. Despite this, the field of osteoarthritis prevention is relatively immature. To date, most of what is known about preventing osteoarthritis and risk factors for osteoarthritis is relative to the disease (underlying biology and pathophysiology) of osteoarthritis, with few studies considering risk factors for osteoarthritis illness, the force driving the personal, financial and societal burden. In this narrative review we will discuss what is known about osteoarthritis prevention, propose actionable prevention strategies related to obesity and joint injury which have emerged as important modifiable risk factors, identify where evidence is lacking, and give insight into what might be possible in terms of prevention by focussing on a lifespan approach to the illness of osteoarthritis, as opposed to a structural disease of the elderly. By targeting a non-specialist audience including scientists, clinicians, students, industry employees and others that are interested in osteoarthritis but who do not necessarily focus on osteoarthritis, the goal is to generate discourse and motivate inquiry which propel the field of osteoarthritis prevention into the mainstream.

Zebrafish model for spondylo-megaepiphyseal-metaphyseal dysplasia reveals post-embryonic roles of Nkx3.2 in the skeleton.

The regulated expansion of chondrocytes within growth plates and joints ensures proper skeletal development through adulthood. Mutations in the transcription factor NKX3.2 underlie spondylo-megaepiphyseal-metaphyseal dysplasia (SMMD), which is characterized by skeletal defects including scoliosis, large epiphyses, wide growth plates and supernumerary distal limb joints. Whereas nkx3.2 knockdown zebrafish and mouse Nkx3.2 mutants display embryonic lethal jaw joint fusions and skeletal reductions, respectively, they lack the skeletal overgrowth seen in SMMD patients. Here, we report adult viable nkx3.2 mutant zebrafish displaying cartilage overgrowth in place of a missing jaw joint, as well as severe dysmorphologies of the facial skeleton, skullcap and spine. In contrast, cartilage overgrowth and scoliosis are absent in rare viable nkx3.2 knockdown animals that lack jaw joints, supporting post-embryonic roles for Nkx3.2. Single-cell RNA-sequencing and in vivo validation reveal increased proliferation and upregulation of stress-induced pathways, including prostaglandin synthases, in mutant chondrocytes. By generating a zebrafish model for the skeletal overgrowth defects of SMMD, we reveal post-embryonic roles for Nkx3.2 in dampening proliferation and buffering the stress response in joint-associated chondrocytes.

Acromelic dysplasias: how rare musculoskeletal disorders reveal biological functions of extracellular matrix proteins.

Acromelic dysplasias are a group of rare musculoskeletal disorders that collectively present with short stature, pseudomuscular build, stiff joints, and tight skin. Acromelic dysplasias are caused by mutations in genes (FBN1, ADAMTSL2, ADAMTS10, ADAMTS17, LTBP2, and LTBP3) that encode secreted extracellular matrix proteins, and in SMAD4, an intracellular coregulator of transforming growth factor-ß (TGF-ß) signaling. The shared musculoskeletal presentations in acromelic dysplasias suggest that these proteins cooperate in a biological pathway, but also fulfill distinct roles in specific tissues that are affected in individual disorders of the acromelic dysplasia group. In addition, most of the affected proteins directly interact with fibrillin microfibrils in the extracellular matrix and have been linked to the regulation of TGF-ß signaling. Together with recently developed knockout mouse models targeting the affected genes, novel insights into molecular mechanisms of how these proteins regulate musculoskeletal development and homeostasis have emerged. Here, we summarize the current knowledge highlighting pathogenic mechanisms of the different disorders that compose acromelic dysplasias and provide an overview of the emerging biological roles of the individual proteins that are compromised. Finally, we develop a conceptual model of how these proteins may interact and form an "acromelic dysplasia complex" on fibrillin microfibrils in connective tissues of the musculoskeletal system.

Dysregulated BMP signaling through ACVR1 impairs digit joint development in fibrodysplasia ossificans progressiva (FOP).

The development of joints in the mammalian skeleton depends on the precise regulation of multiple interacting signaling pathways including the bone morphogenetic protein (BMP) pathway, a key regulator of joint development, digit patterning, skeletal growth, and chondrogenesis. Mutations in the BMP receptor ACVR1 cause the rare genetic disease fibrodysplasia ossificans progressiva (FOP) in which extensive and progressive extra-skeletal bone forms in soft connective tissues after birth. These mutations, which enhance BMP-pSmad1/5 pathway activity to induce ectopic bone, also affect skeletal development. FOP can be diagnosed at birth by symmetric, characteristic malformations of the great toes (first digits) that are associated with decreased joint mobility, shortened digit length, and absent, fused, and/or malformed phalanges. To elucidate the role of ACVR1-mediated BMP signaling in digit skeletal development, we used an Acvr1R206H/+;Prrx1-Cre knock-in mouse model that mimics the first digit phenotype of human FOP. We have determined that the effects of increased Acvr1-mediated signaling by the Acvr1R206H mutation are not limited to the first digit but alter BMP signaling, Gdf5+ joint progenitor cell localization, and joint development in a manner that differently affects individual digits during embryogenesis. The Acvr1R206H mutation leads to delayed and disrupted joint specification and cleavage in the digits and alters the development of cartilage and endochondral ossification at sites of joint morphogenesis. These findings demonstrate an important role for ACVR1-mediated BMP signaling in the regulation of joint and skeletal formation, show a direct link between failure to restrict BMP signaling in the digit joint interzone and failure of joint cleavage at the presumptive interzone, and implicate impaired, digit-specific joint development as the proximal cause of digit malformation in FOP.

Exome reports A de novo GNB2 variant associated with global developmental delay, intellectual disability, and dysmorphic features.

Heterotrimeric G proteins are composed of α, ß, and γ subunits and are involved in integrating signals between receptors and effector proteins. The 5 human Gß proteins (encoded by GNB1, GNB2, GNB3, GNB4, and GNB5) are highly similar. Variants in GNB1 were identified as a genetic cause of developmental delay. De novo variant in GNB2 has recently been reported as a cause of sinus node dysfunction and atrioventricular block but not as a cause of developmental delay. Trio-based whole-exome sequencing was performed on an individual with global developmental delay, muscle hypotonia, multiple congenital joint contractures and dysmorphism such as brachycephalus, thick eyebrows, thin upper lip, micrognathia, prominent chin, and bilateral tapered fingers. We identified a de novo GNB2 variant c.229G>A, p.(Gly77Arg). Notably, pathogenic substitutions of the homologous Gly77 residue including an identical variant (p.Gly77Arg, p.Gly77Val, p.Gly77Ser, p.Gly77Ala) of GNB1, a paralog of GNB2, was reported in individuals with global developmental delay and hypotonia. Clinical features of our case overlap with those of GNB1 variants. Our study suggests that a GNB2 variant may be associated with syndromic global developmental delay.

Musculoskeletal ultrasonography of the elbow joint in dogs: applicability and evaluation protocol / Ultrassonografia musculoesquelética da articulação do cotovelo em cães: aplicabilidade e protocolo de avaliação

The elbow is a complex joint and has great clinical relevance in small animal medicine. Previous research in this area has been performed using radiographic and tomographic methods; however, there are limited studies on ultrasonography. The aims of this study was suggesting an evaluation protocol for elbow scan and describe the ultrasonographic anatomy of the elbow joint in dogs. Ten cross-breed dogs weighing 5-15kg underwent radiography and were selected for this ultrasonographic study. The protocol was established for the ultrasonographic description dividing the articular areas in the proximal, middle, and distal, lateral, cranial, medial, and caudal faces. The approach was performed in the longitudinal, transverse and oblique planes and the musculoskeletal structures were described according to the architecture, echogenicity and echotexture. Computed tomography and magnetic resonance imaging scans were obtained for one animal for comparison. Ultrasonography was effective in visualizing and analyzing muscles, tendons and ligaments. Bone contours and regions that have clinical significance such as the medial coronoid process and anconeus process were identified, but with limited access. Prior knowledge of the normal sonographic anatomy of the elbow joint, as well as its technical advantages and limitations will allow further studies related to the identification of musculoskeletal disorders.(AU)

O cotovelo é uma articulação complexa e tem grande relevância clínica na medicina veterinária de pequenos animais. Pesquisas prévias nesta área foram realizadas utilizando radiografias e tomografia computadorizada, entretanto há limitados estudos com ultrassonografia. O objetivo desse estudo é sugerir um protocolo de avaliação da articulação do cotovelo e descrever sua anatomia ultrassonográfica. Dez cães sem raça definida, pesando 5-15kg foram submetidos à radiografias e foram selecionados para o estudo ultrassonográfico. O protocolo foi estabelecido para a descrição anatômica ultrassonográfica dividindo as articulações em proximal, média e distal, faces lateral, cranial, medial e caudal. A abordagem foi realizada nos planos longitudinal, transverso e oblíquo e as estruturas foram descritas de acordo com a arquitetura, ecogenicidade e ecotextura. Tomografia computadorizada e ressonância magnética foram realizadas em um animal para comparação. A ultrassonografia foi efetiva na visualização e análise de músculos, tendões e ligamentos. Os contornos ósseos e regiões com significado clínico como o processo coronóide medial e o processo ancôneo foram identificados, mas com acesso limitado. Conhecimento prévio da anatomia ultrassonográfica normal da arquitetura do cotovelo, bem como suas vantagens e limitações, irão permitir estudos adicionais relacionados à identificação de desordens musculoesqueléticas.(AU)

Joint Space Narrowing in Patients with Femoroacetabular Impingement: A Matched Cohort Study of Military versus Civilian Patients.

INTRODUCTION: Decreased hip joint space has been associated with poorer outcomes after hip arthroscopy. The purpose of this study was to determine if a difference exists in hip joint degenerative findings in military versus civilian patients with FAI. METHODS: A single surgeon's case series was reviewed to identify all patients undergoing primary hip arthroscopy for treatment of FAI. All active duty military personnel were included in the study group. A cohort of civilian patients matched for age, gender, lateral center edge (LCE) angle, and alpha angle was identified and included as the control group. The hip joint space was measured at the medial and lateral extents of the acetabular sourcil and the center of the sourcil. The Tonnis grade for osteoarthritis was recorded for each patient. Labral tear size as well as femoral head and acetabular chondromalacia grading were obtained from operative records. RESULTS: A total of 229 patients that underwent primary hip arthroscopy for FAI were identified. 46(20.1%) were active duty military personnel. A well-matched cohort of 46 civilian patients was identified. There was no statistical difference in age (35.0, 34.7 years), gender (31 males, 15 females in both groups), BMI (26.8, 27.6), LCE angle (31.0, 31.5), and alpha angle (64.9, 64.9) between the civilian and military groups. Joint space was narrower in the military group in each of the three measured locations (Superomedial 3.8 mm vs 4.2 mm, p = 0.025; Superior 4.0 mm vs 4.4 mm, p = 0.013; Superolateral 4.4 mm vs 4.9 mm, p = 0.043). CONCLUSION: Military patients with FAI may have increased joint space narrowing compared to otherwise similar civilian patients. Femoral and acetabular chondromalacia are found in similar frequencies in military and civilian populations, however the grading system utilized accounts for the presence but not the size of high grade lesions. LEVEL OF EVIDENCE: Level 3.

Two subtypes of symptomatic joint hypermobility: a descriptive study using latent class analysis.

OBJECTIVE: To investigate a cohort of children with symptomatic joint hypermobility. METHODS: Case notes for 318 children with joint hypermobility attending a rheumatology clinic were reviewed for clinical presentation, medical history, psychosocial factors and physical examination findings. Seven key variables were extracted and used as indicator variables in a latent class analysis to estimate the presence and number of subgroups of children with symptomatic joint hypermobility. RESULTS: Two subgroups with differing clinical presentations were identified accounting for age and gender: an 'athletic-persistent' class (62%) characterised by higher probabilities for recurrent and chronic musculoskeletal pain, and less severe hypermobility; and a 'systemic-profound' class (38%) characterised by generalised hypermobility, recurrent musculoskeletal pain, gastro-oesophageal reflux and motor delay. CONCLUSION: Findings suggest the presence of two distinct presentations of children with hypermobility. This finding may be important for clinical decision-making and management of this group of children.

Juvenile-onset gout and adipsic diabetes insipidus: A case report and literature review.

The prevalence of juvenile-onset gout has been increasing. Hereditary factors and secondary diseases should be considered in these patients. Adipsic diabetes insipidus (ADI) is characterized by arginine vasopressin (AVP) deficiency, which results in hypotonic polyuria, and dysfunction of thirst osmoreceptors, which results in failure to generate a thirst sensation in response to hypernatremia. We herein report a case of a boy with gouty arthritis, refractory hyperuricemia, prominent hypernatremia, a high creatinine concentration, and a history of surgery for a hypothalamic hamartoma. The patient was diagnosed with central diabetes insipidus after endocrine evaluation. Because he never had symptoms of thirst, the final diagnosis was corrected to ADI. This is the first report of gout due to chronic ADI in an adolescent. Volume contraction due to ADI might be one cause of hyperuricemia and renal impairment in such patients. Moreover, AVP deficiency might directly lead to low urate clearance due to the lack of vasopressin receptor 1 stimulation. Lack of polydipsia and polyuria may delay the diagnosis of ADI and lead to severe complications of a chronic hyperosmolar status. Sufficient and effective establishment of normovolemia is critical for these patients.

Spectrum of Joint Deformities in Children with Juvenile Idiopathic Arthritis.

OBJECTIVE: To determine the frequency and types of joint deformities in children with juvenile idiopathic arthritis and their association with clinical parameters and rheumatoid factor. STUDY DESIGN: Cross-sectional study. PLACE AND DURATION OF STUDY: Rheumatology Outpatient Clinic, the Children's Hospital and the Institute of Child Health, Lahore, from September 2014 to February 2015. METHODOLOGY: All patients of both genders of less than 16 years of age, who fulfilled the International League of Association for Rheumatology (ILAR) criteria for Juvenile Idiopathic Arthritis (JIA), were enrolled in this study. Their demographic data, duration of disease at the time of presentation, types of JIA, various joint deformities and rheumatoid factor (RF) were documented. Statistical analysis of data was done on SPSS version 16. Chi-square test was applied to determine the association of clinical deformity with age of patients, disease duration at presentation, types of JIA and RF. RESULTS: Out of 70 patients enrolled during the study period, 51.4% were boys with mean age at presentation being 9.44 ±3.89 years (2-7 years) and median duration of disease being 24 months (interquartile range 42 months). Forty patients (57.1%) had joint deformities. Most common joints involved were hand (50%), wrist (50%), and knee (35.7%). The common types of joint deformities were boutonniere deformity (28.6%), ulnar deviation of wrist (28.6%), fixed flexion deformity of wrist (22.9%), and knee (31.4%). The most common type of JIA was polyarthritis RF negative with or without deformity. There was a strong association of deformities with older age of patients at presentation (p=0.036), longer duration of disease at presentation (p=0.028), polyarthritis (RF seronegative / seropositive) (p=0.013), and seropositivity (p=0.04). CONCLUSION: More than 50% patients with JIA have joint deformities. Joint deformities are more likely to be seen in children with long-standing disease, those with polyarthritis JIA and seropositive patients.

Spectrum of mucocutaneous, ocular and facial features and delineation of novel presentations in 62 classical Ehlers-Danlos syndrome patients.

Classical Ehlers-Danlos syndrome (cEDS) is characterized by marked cutaneous involvement, according to the Villefranche nosology and its 2017 revision. However, the diagnostic flow-chart that prompts molecular testing is still based on experts' opinion rather than systematic published data. Here we report on 62 molecularly characterized cEDS patients with focus on skin, mucosal, facial, and articular manifestations. The major and minor Villefranche criteria, additional 11 mucocutaneous signs and 15 facial dysmorphic traits were ascertained and feature rates compared by sex and age. In our cohort, we did not observe any mandatory clinical sign. Skin hyperextensibility plus atrophic scars was the most frequent combination, whereas generalized joint hypermobility according to the Beighton score decreased with age. Skin was more commonly hyperextensible on elbows, neck, and knees. The sites more frequently affected by abnormal atrophic scarring were knees, face (especially forehead), pretibial area, and elbows. Facial dysmorphism commonly affected midface/orbital areas with epicanthal folds and infraorbital creases more commonly observed in young patients. Our findings suggest that the combination of ≥1 eye dysmorphism and facial/forehead scars may support the diagnosis in children. Minor acquired traits, such as molluscoid pseudotumors, subcutaneous spheroids, and signs of premature skin aging are equally useful in adults.

Health and participation problems in older adults with long-term disability.

BACKGROUND: More attention and understanding of the health and participation problems of adults with early and later onset disabilities in the Netherlands is needed. OBJECTIVE: To explore health/participation problems and unmet needs in adults aged ≥40 years with long-term disabilities and their relationship with the time of onset. METHODS: Participants were recruited in the Netherlands through newsletters and social media to participate in a web-based questionnaire. The questionnaire assessed background characteristics, (change in) health/participation problems, and unmet needs. Spearman's rho was used to examine the relationships with time of onset. RESULTS: Of the 163 survey respondents, 42% acquired their disability before age 25 years and reported fatigue (77%), walking problems (66%), and pain (59%). In 21% of the respondents with early-onset disability fatigue, pain and depressive feelings co-occurred. Early-onset disability correlated with joint deformities, pain and anxiety. Participation problems included loss of income and fewer social activities. Early-onset correlated with the need for more information about diagnosis and prognosis. CONCLUSIONS: People aged over 40 years with long-term disability have significant and increasing health and participation problems. Adults with early-onset disability are more likely to have health or participation problems than adults with late-onset disability. Early identification is needed for preventive care and access to specialized services that focus on improving and maintaining physical symptoms, energy management, and participation.

Congenital Zika syndrome with arthrogryposis: retrospective case series study.

OBJECTIVE: To describe the clinical, radiological, and electromyographic features in a series of children with joint contractures (arthrogryposis) associated with congenital infection presumably caused by Zika virus. DESIGN: Retrospective case series study. SETTING: Association for Assistance of Disabled Children, Pernambuco state, Brazil. PARTICIPANTS: Seven children with arthrogryposis and a diagnosis of congenital infection presumably caused by Zika virus during the Brazilian microcephaly epidemic. MAIN OUTCOME MEASURES: Main clinical, radiological, and electromyographic findings, and likely correlation between clinical and primary neurological abnormalities. RESULTS: The brain images of all seven children were characteristic of congenital infection and arthrogryposis. Two children tested positive for IgM to Zika virus in the cerebrospinal fluid. Arthrogryposis was present in the arms and legs of six children (86%) and the legs of one child (14%). Hip radiographs showed bilateral dislocation in seven children, subluxation of the knee associated with genu valgus in three children (43%), which was bilateral in two (29%). All the children underwent high definition ultrasonography of the joints, and there was no evidence of abnormalities. Moderate signs of remodeling of the motor units and a reduced recruitment pattern were found on needle electromyography (monopolar). Five of the children underwent brain computed tomography (CT) and magnetic resonance imaging (MRI) and the remaining two CT only. All presented malformations of cortical development, calcifications predominantly in the cortex and subcortical white matter (especially in the junction between the cortex and white matter), reduction in brain volume, ventriculomegaly, and hypoplasia of the brainstem and cerebellum. MRI of the spine in four children showed apparent thinning of the cord and reduced ventral roots. CONCLUSIONS: Congenital Zika syndrome should be added to the differential diagnosis of congenital infections and arthrogryposis. The arthrogryposis was unrelated to the abnormalities of the joints themselves, but was possibly of neurogenic origin, with chronic involvement of central and peripheral motor neurones leading to deformities as a result of fixed postures in utero. Based on the neurophysiological observations, we suggest two possible mechanisms: tropism of neurones, with involvement of peripheral and central motor neurones, or a relation with vascular disorders.

Artritis reumatoide y leucemia de linfocitos grandes granulares T. A propósito de un caso / Rheumatoid arthritis and T cell large granular lymphocyte leukaemia: a case report

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Surgical correction of bilateral metacarpophalangeal valgus with curved osteotomies and type II external skeletal fixation in a seven-month-old alpaca.

OBJECTIVE: To report the successful surgical correction of severe bilateral metacarpophalangeal valgus angular limb deformities in a seven-month-old intact male alpaca cria using curved osteotomies stabilized with type II external skeletal fixation. METHODS: Using a 21 mm crescentic shaped oscillating saw blade, bilateral osteotomies were performed in the distal metaphyses of the fused third and fourth metacarpal bones to correct valgus angular limb deformity of the metacarpophalangeal joints. Axial alignment of each limb was achieved by medially rotating the distal metacarpus in the frontal plane along the curved osteotomies. The osteotomies were stabilized using type II external skeletal fixators. RESULTS: The alpaca was immediately weight-bearing following the surgical procedure and no to minimal lameness was observed during healing of the osteotomies. Evaluation at five and 10 months following the surgery demonstrated acceptable axial alignment in the left forelimb while moderate to severe varus deformity (overcorrection) was observed in the right. CLINICAL SIGNIFICANCE: Curved osteotomy of the distal metacarpus stabilized with type II external skeletal fixation can provide a favourable outcome in older alpaca crias affected with metacarpophalangeal angular limb deformities. Placement of the distal transfixation pins relative to the metacarpal physes should be carefully evaluated as overcorrection is possible, especially if growthpotential remains in only one physis of the fused third and fourth metacarpal bones.