Dermatologic manifestations of cystic fibrosis (CF) include nutrient deficiency dermatoses, vasculitis, transient reactive papulotranslucent acrokeratodema, digital clubbing, and increased rates of atopy and drug reactions. Few cases of a characteristic eruption in patients with episodic arthritis of CF have been described with prior reports primarily occurring outside of the dermatology literature. We report four cases consistent with this presentation to add to the literature and propose a new and unifying name to recognize this entity as cystic fibrosis dermatitis arthritis syndrome (CF-DAS). Clinical suspicion should remain high in young female patients with cystic fibrosis presenting with episodic joint pain and rash, independent of pulmonary exacerbations.

BACKGROUND: Haemophilic arthropathy (HArt) is a serious complication in patients with hemophilia. Early diagnosis and treatment are essential to minimise the development of HArt. The use of biomarkers may improve early diagnosis of HArt. Circulating microRNAs (miRNAs) are small, non-coding RNAsthat regulate gene expression, and are being investigated as promising biomarkers due to their role in joint and bone metabolism.
OBJECTIVE: To investigate differential expression of miRNAs and their relationship to arthropathy in patients with hemophilia A.
METHODS: miRNA expression was examined in a pilot study followed by a validation study (100 hemophilia A patients with [n = 83] and without HArt [n = 17], 14 controls). Differential miRNA expression was investigated using real-time quantitative PCR.
RESULTS: The pilot study identified 2 miRNAs differentially expressed in patients with Hart (Pettersson score ≥ 1), after adjusting for the false discovery rate (FDR). The validation study evaluated these 2 miRNAs. The results demonstrated that two miRNAs (miR- 208a-3p and 524-3p) were significantly underexpressed in plasma of patients with HArt compared to patients without arthropathy, with FDR <0.05 (Fig. 1). In addition, 3 miRNAs (130a-3p, miR- and 506-3p) were significantly underexpressed in patients with moderate HArt (Pettersson score 4 to 7).
CONCLUSIONS: In this proof of concept study we identified a signature of 5 circulating miRNAs associated with Hart with potential as diagnosis tools for HArt. These miRNAs are potential negative regulators of gene expression, suggesting their activity in HArt by interfering with osteoblastic (miR- 208a-3p) and osteoclastic (miR-506-3p) differentiation to impair bone mineralization and remodeling processes, or regulating chondrogenesis (miR-335-5p). miRNAs associated with earlier stages of HArt will be further investigated in a sub-study of the prospective clinical trial PROVE, which will investigate the effects of long-term prophylaxis with simoctocog alfa versus emicizumab in adults with hemophilia A.

We report two cases wherein rotating hinge knee (RHK) arthroplasty was performed for Charcot joints that developed secondary to Charcot-Marie-Tooth disease (CMT).  Case 1 was of a 74-year-old woman with CMT. She presented with muscle weakness and sensory disturbances of the distal lower limbs, deformity, and significant medial instability of the bilateral knees. She was then diagnosed with Charcot joints of the knees secondary to CMT, which were treated with RHK arthroplasty. Five years postoperatively, there was no instability, and she was able to stand unassisted without pain. Case 2 was a 90-year-old woman with CMT who presented with muscle weakness and sensory disturbances of the distal lower limbs, deformity, and significant medial instability of the bilateral knees. She was then diagnosed with Charcot joints of the knees secondary to CMT, which were also treated with RHK arthroplasty. One year postoperatively, there was no instability, and she was able to walk smoothly using a walker. These clinical cases indicate that RHK arthroplasty can be a good therapeutic option for Charcot joints of the knees in patients with CMT.

BACKGROUND: Cervical articular process joint (CAPJ) therapy is advocated for horses with neck disorders. Several ultrasound-guided CAPJ techniques have been described in cadaver studies with 72%-89% intra-articular injection accuracy; however, the CAPJ injection accuracy in clinical equine practice has not been extensively reported.
OBJECTIVE: To describe a modified cranial approach for ultrasound-guided caudal CAPJ injections, to investigate the accuracy of this CAPJ injection technique in live horses, and to assess the effect of CAPJ injection location, laterality, operator, and radiographic CAPJ enlargement on injection accuracy.
METHODS: Retrospective case study.
METHODS: Medical records of adult horses in which ultrasound-guided caudal (C4-T1) CAPJ injections were performed using a modified cranial approach between November 2006 and December 2020 were reviewed. Radiographic images of caudal cervical vertebrae were assessed by a blinded radiologist and the degree of CAPJ enlargement was graded using a previously described grading system (Rgrade 1-5b). Ultrasound-guided caudal CAPJ injection accuracy was determined by synovial fluid retrieval during an individual CAPJ injection. Statistical analysis was performed using mixed-effects multivariable logistic model to evaluate the association of CAPJ injection accuracy and the CAPJ injection location, Rgrade, laterality (right, left), and operator.
RESULTS: The study included 149 horses with 177 hospital admissions. Synovial fluid was obtained from 586/658 (89.1%) caudal CAPJs using modified cranial ultrasound-guided approach for CAPJ injections. C6-C7 CAPJ injections had 7-fold higher likelihood (OR = 6.78, 95% CI: 1.67-27.52; p = 0.007) of synovial fluid retrieval compared with C4-C5 CAPJ injections. Operator, CAPJ injection side (left, right), and degree of radiographic CAPJ enlargement did not have significant effects on the success of synovial fluid retrieval from ultrasound-guided caudal CAPJ injections.
CONCLUSIONS: Retrospective study design.
CONCLUSIONS: Intra-articular ultrasound-guided caudal CAPJ injections using a modified cranial approach can be performed accurately in live horses with and without CAPJ arthropathy.
摘要 背景: 开始提倡颈椎关节突关节(CAPJ)治疗用于马的颈部疾病。几种超声引导的CAPJ技术已经在尸体研究中宣称有72‐89%的关节内注射准确率，但是临床活马实践中的CAPJ注射准确率尚未有广泛报道。. 目的: 描述一种改进的前侧入路，用于超声引导下的尾侧CAPJ注射，研究这种CAPJ注射技术在活马体内的准确性，并评估CAPJ注射位置、侧边、操作人员和影像学CAPJ扩大对注射精度的影响。. 研究设计: 回顾性案例研究. 方法: 回顾了2006年11月至2020年12月间，采用改良前侧入路对成年马进行超声引导尾侧(C4‐T1) CAPJ注射的医疗记录。由盲态放射科医师核查评估椎骨尾侧的影像学图像，并使用先前描述的分级系统(Rgrade 1‐5b)对CAPJ扩大程度进行分级。超声引导的尾侧CAPJ注射准确性是通过单个CAPJ注射时的滑液回流来确定。采用混合效应多变量logistic模型进行统计分析，评估CAPJ注射准确率与CAPJ注射位置、Rgrade、侧边度(右、左)和操作者之间的关系。. 结果: 这项研究包括了149匹马及177个住院病例。采用改良前侧超声引导入路对尾侧CAPJ进行注射，其中586/658(89.1%)有滑液回流。C6‐C7的CAPJ注射与C4‐C5注射CAPJ相比，准确率/滑液回流可能性高7倍(OR = 6.78， 95% CI: 1.67–27.52；p = 0.007)。操作人员、CAPJ注射侧(左、右)和x线片CAPJ扩大程度对超声引导下尾侧CAPJ注射滑液成功回流无显著影响。. 主要局限性: 回顾性研究设计. 结论: 超声引导下经改良前侧入路的尾侧CAPJ关节内注射可以准确地用于有或没有CAPJ关节病的活马。.

UNASSIGNED: Hemophilia is an inherited bleeding disorder. Bleeding, and in particular joint hemorrhage results in chronic arthropathy and disability. Acute and chronic pain are frequent and limit activity and participation and result in decreased health-related quality of life. Remarkable progress has been made in the diagnosis and treatment of hemophilia but bleeding continues to prove recalcitrant to currently available treatments and joint disease remains problematic. Physiotherapy and pain management are mainstays of current multidisciplinary integrated care of people with hemophilia (PWH). The focus of this review is on preservation of joint health in the era of new and innovative therapies.
UNASSIGNED: A search of the PubMed Central was conducted on 1 February 2024 using the MeSH Major Topic terms identified as keywords for the manuscript. This review will highlight what is known and unknown about joint bleeding and arthropathy, including insights on pain as a related complication.
UNASSIGNED: Recent advances in therapeutic interventions aimed at promoting healthy joints in PWH will be discussed, including both the pharmacological treatment landscape and related strategies to promote joint health.

Increasingly Charcot neuroarthropathy (CN) is being recognized in patients with Charcot-Marie-Tooth (CMT) disease. In this report, we describe a case of CN in a CMT patient, adding to the very scarce literature describing this association. We additionally report his unique evaluation with fluorodeoxyglucose (FDG) and sodium fluoride (NaF) positron emission tomography/computed tomography (PET/CT) scanning, the study of which is limited in CN despite its promising role. A 54-year-old known case of CMT, presented with left foot pain, and swelling for 4 months. Weakness and sensory deficits as a result of CMT were evident in both lower and upper limbs. His x-ray was suggestive of CN. Both FDG and NaF PET/CT scanning demonstrated increased tracer uptake in the first tarsometatarsal joint (TMTJ), in keeping with CN. Recognition of the association of CMT with CN is of vital importance as early diagnosis relies on high clinical suspicion. Characterizing risk factors of CN in CMT patients is still under study. Moreover, there is lack of data evaluating the role of PET/CT in CN and specifically in the context of CMT.

OBJECTIVE: The bone strain index (BSI) is a marker of bone deformation based on a finite element analysis inferred from dual X-ray absorptiometry (DXA) scans, that has been proposed as a predictor of fractures in osteoporosis (i.e., higher BSI indicates a lower bone\'s resistance to loads with consequent higher risk of fractures). We aimed to investigate the association between lumbar BSI and vertebral fractures (VFs) in acromegaly.
METHODS: Twenty-three patients with acromegaly (13 males, mean age 58 years; three with active disease) were evaluated for morphometric VFs, trabecular bone score (TBS), bone mineral density (BMD) and BSI at lumbar spine, the latter being corrected for the kyphosis as measured by low-dose X-ray imaging system (EOS®-2D/3D).
RESULTS: Lumbar BSI was significantly higher in patients with VFs as compared to those without fractures (2.90 ± 1.46 vs. 1.78 ± 0.33, p = 0.041). BSI was inversely associated with TBS (rho -0.44; p = 0.034), without significant associations with BMD (p = 0.151), age (p = 0.500), BMI (p = 0.957), serum IGF-I (p = 0.889), duration of active disease (p = 0.434) and sex (p = 0.563).
CONCLUSIONS: Lumbar BSI corrected for kyphosis could be proposed as integrated parameter of spine arthropathy and osteopathy in acromegaly helping the clinicians in identifying patients with skeletal fragility possibly predisposed to VFs.

Introduction: Patients with Haemophilia (PWH) need orthopaedic treatments and often they undergo surgery. Classically, PWH with inhibitors have to face such procedures earlier than other patients. Major orthopaedic surgery is not easy and complications are frequent. Emicizumab is the first monoclonal antibody introduced for haematological prophylaxis for PWH with inhibitors, achieving an efficacious haemostasis also in patients with severe haemophilia A with inhibitors, later demonstrated for PWH without inhibitors. A few years ago, emicizumab was also proposed for PWH undergoing surgery, as it supports excellent bleeding control. The literature on orthopaedic surgery using an emicizumab protocol is scarce: only isolated case reports with short-term follow-ups are available. Aim: The purpose of this study is the assessment of the mid-term outcomes of major orthopaedic surgery performed in a population of patients with and without inhibitors and an emicizumab regimen. Methods: We reviewed the records of 13 PWH (eight with high-titre inhibitors, five without) with a mean age of 54.6 years, undergoing 15 orthopaedic surgical procedures between 2017 and 2022: primary knee and hip arthroplasty, revision, pseudotumor excision, or amputation. Their prophylaxis consisted of the combination of emicizumab and boluses of rFVIIa (PWH with inhibitors) or rFVIII (PWH without inhibitors). The clinical parameters of evaluation were: VAS, Haemophilic Joint Health Score (HJHS), and standard radiologic studies. Follow-up was conducted at 1, 3, 6 months, and then yearly. The survival rate of all implants was also assessed. Results: The mean follow-up was 38.8 months (range: 12-65). All patients were successfully treated without complications during surgery. During the postoperative period, a patient affected by a septic complication two months after his pseudotumor excision underwent an above-the-knee amputation. All patients were regularly discharged to the rehabilitative ward, reporting satisfaction for pain reduction and improved joint and global function at the VAS and HJHS scores. No revisions or implant failures were recorded. Conclusions: A prophylaxis regimen with emicizumab and factor replacement in PWH with or without inhibitors undergoing major orthopaedic surgery ensures effective bleeding control and good postoperative clinical outcomes at mid-term follow-up, and may be routinely adopted in dedicated high-volume hospitals. This series is the most consistent to date reported at a single Haemophilia centre.

UNASSIGNED: Alkaptonuria is an autosomal extremely rare recessive metabolic disorder with incidence reported to occur as 1:100 000-1:250 000 live births worldwide. This rare metabolic disorder is characterized by the accumulation of homogentisic acid due to a deficiency in homogentisic acid 1,2 dioxygenase. Homogentisic acid subsequently oxidizes and accumulates in the connective tissue. The knee is the most significant peripheral joint to be affected by the disorder. The authors present the first case of ochronotic arthropathy in Syria.
UNASSIGNED: A 46-year-old male presented with bilateral pain in the knees. the pain was affecting his day-to-day activities, and not responding to conservative management. Anteroposterior standing radiographs demonstrated extensive degenerative disease. Intraoperatively, the diagnosis was done after noticing that the quadriceps tendon and the articular cartilage of the femur, tibia, and patella were blackened during cemented total knee replacement of the knee.
UNASSIGNED: Ochronotic arthropathy should be kept in mind in middle age patients with severe osteoarthritis to not be surprised by the rare alkaptonuria diagnosis if arthroplasty was indicated.

UNASSIGNED: The objective of this case series is to investigate the efficacy and safety of intravenous infusion of Pamidronate, a second generation bisphosphonate, in the treatment of active Charcot arthropathy.
UNASSIGNED: All patients with active Charcot arthropathy treated at the medical centre from 1 January 2013 to 30 June 2020 were included in the study. Efficacy outcome was evaluated based on time to consolidate findings observed through radiographic examination, while safety outcome was evaluated based on the incidence of adverse event (AE) occurrence.
UNASSIGNED: A total of 81 patients (37 male, 44 female) diagnosed with active Charcot arthropathy were included. 64.2% of patients were at stage 1 of Charcot arthropathy whereas 35.8% were at stage 2. The mean time to consolidate for stage 1 and stage 2 was 6.50 ± 4.21 months and 3.63 ± 2.92 months respectively (p-value = 0.139). No significant association was observed between gender, ethnicity and disease stage with the consolidation time (p-value >0.05). The rate of AE incidence was 2.5%, observed in 2 patients who developed a fever during the treatment. No other serious AE was observed in the study.
UNASSIGNED: Intravenous Pamidronate infusion is a safe and effective treatment option for Charcot arthropathy.