Lower Limb Muscle Weakness Research Articles

Clinical characteristics of idiopathic inflammatory myopathies related to anti-SRP: a single center experience

Idiopathic inflammatory myopathy (IIM) with autoantibodies recognizing the signal recognition particle (SRP) is characterized by prominent proximal weakness, infrequent extramuscular involvement, dramatically elevated creatine kinase levels, and myofiber necrosis with few inflammatory cell infiltrates in muscle tissue. To enhance understanding of the clinically used diagnosis and treatment of this disease, this study presents a single-center experience and analysis of a Chinese cohort with anti-SRP IIM. The most recent European Neuromuscular Center criteria were used to include Anti-SRP IIM patients from September 2016 to November 2019. Prior to treatment initiation, all sera were collected for the detection of anti-SRP autoantibodies and other myositis-related autoantibodies. Muscle strength, concurrent autoimmune conditions, comorbidities like interstitial lung disease (ILD), treatment outcomes, and follow-up results were also documented. Univariate logistic regression was employed to determine factors affecting prognosis. Among 271 patients with IIM, we identified 23 (8.5%) patients with anti-SRP IIM. Lower limb muscle weakness was frequently more severe. Interstitial lung disease (ILD) was observed in 50% of anti-SRP IIM patients. The presence of ILD may serve as a predictor of a poor prognosis, as revealed by univariate logistic regression analysis (odds ratio, 3.8, 95% CI: 1.0-6.8, p = 0.05).This Chinese Anti-SRP IIM cohort from Hunan province seems to have higher incidences of ILD, and associated ILD may be a risk factor for a poor prognosis. To fully understand the specific role of the anti-SRP autoantibody in this unique subset with ILD, further research is necessary.

Multidisciplinary approach on divergent outcomes in spinal muscular atrophies: comparing DYNC1H1 and SMN1 gene mutations.

Spinal Muscular Atrophy (SMA) emerges as a prominent genetic neuromuscular disorder primarily caused by variants in the survival motor neuron (SMN) gene. However, it is noteworthy that alternative variants impacting DYNC1H1 have also been linked to a subtype known as spinal muscular atrophy lower extremity predominant (SMA-LED). This observation underscores the complexity of SMA and highlights the necessity for tailored, gene-specific management strategies. Our study elucidates how similar approaches to managing SMA can yield distinct outcomes, emphasizing the imperative for personalized gene-based interventions in effectively addressing these conditions.Two patients were referred for further management due to clinical suspicion of type-3 SMA. The definitive diagnosis was confirmed through the polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP) technique, as well as whole-exome sequencing (WES).The analysis revealed deletions in exon-7 and 8 of SMN1 in the first patient and a likely pathogenic mutation (NM_001376.5(DYNC1H1):c.1867T > C (NP_001367.2: p.Phe623Leu)) in DYNC1H1 in the second patient. Both patients presented with lower limb muscle weakness. However, while the first patient exhibited a gradual increase in severity over the years, the second patient displayed no progressive symptoms. The management was adjusted accordingly based on the genetic findings.Our observation underscores the complexity of SMA and highlights the necessity for tailored, gene-specific management strategies. Our study elucidates how similar approaches to managing SMA can yield distinct outcomes, emphasizing the imperative for personalized gene-based interventions in effectively addressing these conditions.

Pattern of pareses in 5q-spinal muscular atrophy.

This prospective study investigates the pattern of pareses in 5q-associated spinal muscular atrophy (SMA) to identify disease-specific characteristics and potential differences from amyotrophic lateral sclerosis (ALS) and spinobulbar muscular atrophy (SBMA). Detailed knowledge about pareses patterns in SMA facilitates differential diagnosis and supports therapeutic monitoring. Between January 2021, and June 2021, 66 SMA patients (59.1% male, aged 33.6 ± 15.2 years) were included in the study. Most patients had SMA type II (n = 28) or SMA type III (n = 28), seven patients had SMA type I, and three patients had SMA type IV. We analyzed the pattern of pareses using the UK Medical Research Council (MRC) scoring system. In both, upper and lower limbs muscle weakness was less pronounced in distal (upper limbs: MRC median 3.0 (interquartile range 1.5-3.5); lower limbs: 1.5 (0.5-3.0)) compared to proximal muscle groups (upper limbs: 2.0 (1.5-2.6); p < 0.001; lower limbs: 0.5 (0.5-1.5); p < 0.001). Thenar muscles were stronger than other small hand muscles (3.0 (2.0-3.5) vs 3.0 (1.5-3.5); p = 0.004). Muscles had more strength in upper (2.3 (1.5-3.1)) compared to lower limbs (1.1 (0.5-2.3); p < 0.001) and in flexors compared to extensors. We identified a specific pattern of muscle paresis in SMA which is different from the pattern of paresis in ALS and SBMA. As a rule of thumb, the pattern of pareses is similar, but not identical to ALS in distal, but different in proximal muscle groups.

Anaesthetic Management of a Patient with Guillain-Barré Syndrome undergoing Proximal Humerus Fracture Surgery: A Case Report

Guillain-Barré Syndrome (GBS) is an autoimmune disorder which can present in acute and chronic forms. It is an inflammatory demyelinating polyneuropathy. These patients pose potential perioperative risks of autonomic dysfunction and respiratory muscle weakness. The current case report shows a 66-year-old female with a history of a fall at home eight days prior to surgery, diagnosed with a right-sided proximal humerus fracture. The patient was a diagnosed case of GBS and hypertension since five years. For GBS, she had a history of Intensive Care Unit (ICU) admission for both upper and lower limb muscle weakness and breathlessness. She recovered with treatment of Intravenous Immunoglobulin (IVIg) and oxygen therapy. The weakness improved gradually over time but did not fully recover. The patient continued to have weakness in both lower and upper limbs prior to surgery. The patient underwent Joshi’s External Stabilising System (JESS) fixation surgery for the right proximal humerus fracture. Ultrasound-guided (USG) interscalene and superficial cervical plexus block were performed in view of pre-existing muscle weakness and to reduce the requirement of postoperative ventilator support. The intraoperative course was uneventful. The patient’s sensory and motor power returned to the same prior to surgery after the block’s effects subsided.

E58 The rheumatologic masquerader: a case report on SLE-dermatomyositis-systemic scleroderma overlap syndrome

Abstract Introduction Juvenile dermatomyositis is an autoimmune connective tissue disorder characterized by idiopathic inflammatory myopathy primarily affecting the skin and muscles(1, 2). It may occur alone or in overlap syndromes usually with systemic scleroderma, systemic lupus erythematosus (SLE) and mixed connective tissue disease(3, 4). There is need to further describe and characterize cases encountered in different set ups. Objective To describe a case of dermatomyositis-scleroderma overlap in an African male adolescent. Methods We carried out a retrospective chart review to ascertain clinical features and management strategies. Results We present a case of a 17- year old African male patient who presented with a diagnosis of systemic lupus erythematosus made at a peripheral facility in February 2021, and started on azathioprine 50 mg daily, hydroxychloroquine 200 mg daily and prednisolone 5 mg twice daily. He presented on 30th November 2022 with a 2-year history of bilateral elbow, knee, ankle pain and swelling with an 8-month history of bilateral proximal upper and lower limb muscle weakness. Review of systems revealed alopecia, occasional fever and hyperpigmentation over his proximal interphalangeal and metacarpophalangeal joints that has since evolved to hypopigmentation. Positive examination findings included fine sparse hair, heliotrope rash, Gottron's papule, salt and pepper skin rash, hardening of the skin over the arm and thighs with a rodnan score 3/3 over the phalanges, nodular non tender lesions in the abdominal subcutaneous tissue and dactylitis with fixed flexion deformities of both elbows. He had bilateral flexion contractures of both elbows and knees with dactylitic fingers. Laboratory investigations showed an elevated CRP 94 mg/l, elevated lactate dehydrogenase 458 U/l, elevated creatine kinase 492U/l, positive antinuclear antibodies (1:640 titres) with a nuclear coarse and large speckled pattern, positive double stranded DNA antibodies and weak positive anti SM, anti RNP and PCNA antibodies. Myositis panel was positive for MDA5 and OJ. Pelvic MRI showed features of proximal inflammatory myositis. The childhood myositis assessment scale revealed a score of 25/52. ECHO and chest radiograph were normal. Pulmonary function test showed a low FEV 1 and FVC in keeping with a restrictive lung picture. Gastroenterology review revealed gastritis with no other stigmata of autoimmune disease. Management has consisted of monthly therapy with intravenous immunoglobulin. Azathioprine therapy was switched with mycophenolate mofetil 1 gram twelve hourly. He was advised on sunscreen protection. Physiotherapy and occupational therapy has been ongoing. Three months of follow up has led to the resolution of the flexion knee contractures, improved functionality in activities of daily living and a rodnan score of 2/3 over the phalanges. Conclusion SLE-juvenile dermatomyositis and systemic scleroderma can occur as an overlap syndrome and a definitive diagnosis remains elusive to many clinicians. A thorough history and comprehensive physical examination remains key to establishing a correct diagnosis. Early patient referral to paediatric rheumatologist for prompt appropriate treatment can avert debilitating morbidity and mortality.

Characteristics of Patients With Late-Onset Pompe Disease in France: Insights From the French Pompe Registry in 2022.

The French Pompe disease registry was created in 2004 for study of the natural course of the disease in patients. It rapidly became a major tool for assessing the long-term efficacy of enzyme replacement therapy (ERT) after the market release of alglucosidase-alfa. Approximately 10 years after publication of the baseline characteristics of the 126 initial patients of the French Late-Onset Pompe Disease registry, we provide here an update of the clinical and biological features of patients included in this registry. We describe 210 patients followed at 31 hospital-based French neuromuscular or metabolic centers. The median age at inclusion was 48.67 ± 14.91 years. The first symptom was progressive lower limb muscle weakness, either isolated (50%) or associated with respiratory symptoms (18%), at a median age of 38 ± 14.9 years. At inclusion, 64% of the patients were able to walk independently and 14% needed a wheelchair. Positive associations were found between motor function measure, manual motor test, and 6-minute walk test (6MWT) results, and these parameters were inversely associated with the time taken to sit up from a lying position at inclusion. Seventy-two patients had been followed for at least 10 years in the registry. Thirty-three patients remained untreated a median of 12 years after symptom onset. The standard ERT dose was administered for 177 patients. This update confirms previous findings for the adult population included in the French Pompe disease registry, but with a lower clinical severity at inclusion, suggesting that this rare disease is now diagnosed earlier; thanks to greater awareness among physicians. The 6MWT remains an important method for assessing motor performance and walking ability. The French Pompe disease registry provides an exhaustive, nationwide overview of Pompe disease and can be used to assess individual and global responses to future treatments.

MEN1 syndrome presents as Cushing’s disease with proximal lower limb weakness: A rare phenomenon

Abstract The typical presentation of MEN 1 syndrome in most cases is primary hyperparathyroidism. The manifestation of hypercortisolism due to a functional Pituitary microadenoma in an adult as the first presenting feature in MEN 1 is rare. This report of Cushing’s disease presenting as proximal muscle weakness due to an adrenocorticotrophic hormone (ACTH) producing pituitary microadenoma as the initial feature of multiple endocrine neoplasia type 1 is an unusual occurrence. The patient had presented with proximal muscle weakness of lower limbs along with abdominal striae and uncontrolled diabetes. On hematological and radiological evaluations, she was detected to have a pituitary microadenoma along with a parathyroid adenoma causing increased levels of ACTH, serum (S) cortisol, parathyroid hormone, and S calcium. The patient underwent a transsphenoidal decompression of the pituitary microadenoma using frameless neuronavigation. Within 2 weeks of surgery, the patient achieved normal levels of S cortisol. She is off medication for blood sugar control. At 6 months, follow-up, she is symptom-free.

Protocol for a randomised, placebo-controlled, double-blinded clinical trial on the effect of oestrogen replacement on physical performance to muscle resistance exercise for older women with osteoarthritis of knee joint: the EPOK trial

BackgroundKnee osteoarthritis (KOA) is highly prevalent in older women, and previous studies suggest the involvement of hormonal factors play a role in the pathogenesis of osteoarthritis. KOA causes musculoskeletal impairment, resulting in decreased physical activity, muscle mass, and strength, which leads to sarcopenia and further increases the burden on healthcare systems. Oestrogen replacement therapy (ERT) improves joint pain and muscle performance in early menopausal women. Muscle resistance exercise (MRE) is a non-pharmacological method that preserves the physical functions of patients with KOA. However, data on short-term oestrogen administration combined with MRE in postmenopausal women, especially in those aged > 65 years, are limited. Therefore, this study presents a protocol of a trial aimed to examine the synergistic effect of ERT and MRE on lower-limb physical performance in older women with KOA.MethodsWe will conduct a double-blinded, randomised placebo-controlled trial in 80 Japanese women aged > 65 years living independently with knee pain. The participants will be randomly categorised into two groups: (1) 12-week MRE programme with transdermal oestrogen gel containing 0.54 mg oestradiol per push and (2) 12-week MRE programme with placebo gel. The primary outcome measured using the 30-s chair stand test, and secondary outcomes (body composition, lower-limb muscle strength, physical performance, self-reported measure of knee pain, and quality of life) will be measured at baseline, 3 months, and 12 months, and these outcomes will be analysed based on the intention-to-treat.DiscussionThe EPOK trial is the first study to focus on the efficacy of ERT on MRE among women aged > 65 years with KOA. This trial will provide an effective MRE to prevent KOA-induced lower-limb muscle weakness, confirming the benefit of short-term oestrogen administration.Trial registrationJapan Registry of Clinical Trials: jRCTs061210062. Registered 17th December 2021, https://jrct.niph.go.jp/en-latest-detail/jRCTs061210062.

Analysis of 4 children with DYNC1H1 gene related spinal muscular atrophy with lower extremity predominant 1

Objective: To investigate the clinical features and gene variation characteristics of children with dynein cytoplasmic 1 heavy chain 1 (DYNC1H1) gene associated spinal muscular atrophy with lower extremity predominant (SMALED) 1. Methods: The clinical data of 4 SMALED1 children admitted to Peking University First Hospital from December 2018 to May 2021, who were found to have pathogenic variation of DYNC1H1 gene through genetic testing, except for other genes known to be related to motor retardation, were retrospectively summarized to analyze the phenotype and genotype characteristics. Results: There were 3 males and 1 female. The age of onset was 1 year, 1 day, 1 day and 4 months, respectively. The age of diagnosis was 4 years and 10 months, 9 months, 5 years and 9 months, and 3 years and 1 month, respectively. The clinical manifestations were muscle weakness and muscular atrophy of lower limbs, 2 cases with foot deformity, 1 case with early non progressive joint contracture, 1 case with hip dislocation and 1 case with mental retardation. De novo heterozygous missense variations in DYNC1H1 gene were found in all 4 children. According to the rating of American College of medical genetics and genomics, they were all possible pathogenic and pathogenic variations, with p.R598C, p.P776L, p.Y1109D variations had been reported, and p.I1086R variation had not been reported. Conclusions: For those with unexplained lower limb muscle weakness, muscle atrophy, joint contracture and foot deformity, upper limb motor ability related retention, with or without mental retardation, as well as the motor ability progresses slowly, it is necessary to consider the possibility of SMALED1 and the detection of DYNC1H1 gene when necessary.

Generation of FOUR iPSC lines (CRICKi004-A; CRICKi005-A; CRICKi006-A, CRICKi007-A) from Spinal muscle atrophy patients with lower extremity dominant (SMALED) phenotype

Spinal muscular atrophy with lower extremity dominant (SMALED) is a hereditary neuromuscular disorder characterized by degeneration of spinal cord motor neurons resulting in lower limbs muscle weakness and paralysis. Mutations in DYNC1H1, which encodes BICD2, a multifunctional adaptor for microtubule motor proteins, cause the disorder. Here, we generated four induced pluripotent stem cell (iPSC) lines from patients with SMALED. Dermal fibroblasts were obtained from the MRC neuromuscular disease biobank and reprogrammed using non-integrating mRNA-based protocol. Characterization of the four iPSC lines included karyotyping and Sanger sequencing, while the expression of associated markers confirmed pluripotency and differentiation potential.

Independently ambulatory children with spina bifida experience near-typical knee and ankle joint moments and forces during walking

BackgroundSpina bifida, a neurological defect, can result in lower-limb muscle weakness. Altered ambulation and reduced musculoskeletal loading can yield decreased bone strength in individuals with spina bifida, yet individuals who remain ambulatory can exhibit normal bone outcomes. Research questionDuring walking, how do lower-limb joint kinematics and moments and tibial forces in independently ambulatory children with spina bifida differ from those of children with typical development? MethodsWe retrospectively analyzed data from 16 independently ambulatory children with spina bifida and 16 children with typical development and confirmed that tibial bone strength was similar between the two groups. Plantar flexor muscle strength was measured by manual muscle testing, and 14 of the children with spina bifida wore activity monitors for an average of 5 days. We estimated tibial forces at the knee and ankle using motion capture data and musculoskeletal simulations. We used Statistical Parametric Mapping t-tests to compare lower-limb joint kinematic and kinetic waveforms between the groups with spina bifida and typical development. Within the group with spina bifida, we examined relationships between plantar flexor muscle strength and peak tibial forces by calculating Spearman correlations. ResultsActivity monitors from the children with spina bifida reported typical daily steps (9656 [SD 3095]). Despite slower walking speeds (p = 0.004) and altered lower-body kinematics (p < 0.001), children with spina bifida had knee and ankle joint moments and forces similar to those of children with typical development, with no detectable differences during stance. Plantar flexor muscle weakness was associated with increased compressive knee force (p = 0.002) and shear ankle force (p = 0.009). SignificanceHigh-functioning, independently ambulatory children with spina bifida exhibited near-typical tibial bone strength and near-typical step counts and tibial load magnitudes. Our results suggest that the tibial forces in this group are of sufficient magnitudes to support the development of normal tibial bone strength.

P.85 Analysis of Juvenile onset Pompe disease patients included in the Spanish Pompe Registry

Late Onset Pompe patients (LOPD) is the main phenotype on Pompe disease that start with symptoms from the age of two years to late in the adulthood. Because of the heterogeneity of the disease, it has been described the Juvenile Onset Pompe Disease (JOPD) subgroup, who become symptomatic between 2 and 18 years old. We describe the demographic and clinical features of all JOPD patients and their progression (using six-minute walking test -6MWT-, forced vital capacity -FVC- and Creatin Kinase -CK- values and comparing it with the other LOPD patients) registered at the Spanish Pompe Registry (SPR), with 121 patients registered in Spain. We identified 28 JOPD patients (18.8%) in the SPR, with 16 males (57%), median age of symptoms onset was 8.5 years. The most frequent mutation was c.32-13T>G in 19 patients (68%). HyperCKemia was the most common reason for diagnosis in 17 (61%) patients. 19 patients (68%) developed muscle symptoms, being lower limbs weakness the most predominant (13). 9 (34.6%) developed respiratory symptoms, 2 (7%) of them before 18 years. All JOPD received Enzyme Replacement Therapy. JOPD patients showed significantly baseline higher CK values compared to LOPD (p<0.001) but tended to decline over time, without any significant difference of the progression of CVF and 6MWT (Mann-Whitney test). Most of the JOPD patients in the SPR were diagnosed because of hyperckemia, and lower limbs muscle weakness before 18 years old. We have not identified differences in the progression of the disease between JOPD patients and LOPD patients.

Teaching Video NeuroImage: Scurvy Presenting as Proximal Myopathy in a Young Boy.

Five-year-old boy presented with progressive difficulty in running, climbing stairs, and walking for 3 months. Examination showed irritability, wide-based gait, imbalance, proximal lower limb muscle weakness, Gower sign (Video 1, [links.lww.com/WNL/C321][1]), normal tendon reflexes, and no sensory loss. On questioning, parents revealed that the child had been eating only wheat bread and milk for the past year. X-ray of knees was obtained and showed classic signs of vitamin C deficiency1: lines of Fränkel, Trümmerfeld zone, and Pelkan spurs (Figure). Ascorbic acid was started at 250 mg/d. Complete resolution of symptoms was noted within 2 months (Video 1, [links.lww.com/WNL/C321][1]). Neurologic and musculoskeletal presentations of scurvy include myalgia, arthralgia, neuralgia, limb weakness (pseudoparalysis), hemarthrosis, hematomas, and neuropsychiatric symptoms.2 Scurvy, although rare, should be considered in children with neuromuscular symptoms even in the absence of mucocutaneous manifestations, especially in children with restrictive diets and comparatively rapid progression of symptoms. [1]: http://links.lww.com/WNL/C321

Granulomatosis with polyangiitis presenting as obstructive uropathy and vasculitic myopathy.

A 63-year-old male presented with 3 months of urinary retention, progressive bilateral lower limb muscle weakness, 18-kg weight loss and eye redness. Prior to admission, MRI revealed marked enlargement of the prostate (Fig. 1A) and prostatic biopsy found granulomatous inflammation (Fig. 1B). During admission, testing revealed a positive pANCA (perinuclear antineutrophil cytoplasmic antibody) and MPO (myeloperoxidase antibodies; >8.0 units, ref. <0.4). CRP was elevated (179.2 mg/l; ref. <8.0) but creatine kinase was normal (12 U/l; ref. 39–308). Extensive infectious workup, including metagenomic sequencing, was negative. MRI of the proximal lower extremities demonstrated diffuse T2 hyperintensity in muscles (Fig. 1C). Biceps femoris muscle biopsy showed a necrotizing vasculitic myopathy (Fig. 1D). Prednisone and rituximab were initiated for induction therapy of granulomatosis with polyangiitis (GPA), resulting in rapid improvement of muscle weakness, episcleritis and constitutional symptoms. GPA is a form of ANCA-associated vasculitis that predominately affects small vessels. The most common sites affected include the ears, nose, throat, lungs and kidneys. Urologic manifestations are rare, affecting <1% of cases [1]. Granulomatous prostatitis in GPA usually presents with obstructive symptoms and more rarely with acute urinary retention [1]. Vasculitic myopathy is similarly uncommon and typically presents with a combination of myalgias and muscle weakness but may have a normal creatine kinase [2].

Teaching NeuroImage: Lower Limb Muscle Weakness Due to Intramedullary Spinal Cord Lipoma.

A 24-year-old man presented with a 6-month history of weakness of the right lower limb, without upper extremity weakness. Spinal cord CT/MRI showed an extensive intramedullary lesion from C7 to T4, with classical radiologic features of lipoma (Figure). There was no spinal dysraphism. Subtotal resection of the lesion was performed. The pathology confirmed the diagnosis of lipoma. Postoperatively, the patient's motor function temporarily deteriorated. The symptoms improved after 2-month rehabilitation. Nondysraphic spinal intramedullary lipomas are extremely rare, constituting approximately <1% of all intraspinal tumors.1,2 MRI is the most sensitive imaging protocol; typical radiologic appearances can confirm diagnosis and avoid biopsy.

The preventive and therapeutic role of physical activity in knee osteoarthritis.

The aim of this narrative review is to discuss the results of studies investigating the role of physical activity in knee osteoarthritis (OA). We also formulated two evidence-based exercise programs that could be prescribed to patients with symptomatic knee OA or after joint replacement. The PubMed and Google Scholar databases were searched for articles related to knee OA and physical activity. A total of 86 papers written in English and published from 1957 to 2021 were selected. Adapted physical activity, even at high intensity, does not appear to trigger or exacerbate knee OA; on the contrary, it may prevent obesity or lower limb muscle weakness, both of which are considered predisposing factors for the disease. In patients already diagnosed with knee OA, scientific evidence suggests that both land-based and aquatic activities combining aerobics, strength, and endurance programs are safe and effective. Physical interventions tailored to the patient may also accelerate recovery time after knee arthroplasty. Knee OA is a painful and disabling rheumatic disease that is very common in the elderly population. Pharmacotherapy has a modest effect in controlling disease progression, possibly due to the still limited understanding of OA pathogenesis. Non-pharmacologic interventions, including dietary and lifestyle changes and physical activity, may be more effective and safer than drugs in preventing or treating knee OA.

Regulatory Mechanisms of Prg4 and Gdf5 Expression in Articular Cartilage and Functions in Osteoarthritis.

Owing to the rapid aging of society, the numbers of patients with joint disease continue to increase. Accordingly, a large number of patients require appropriate treatment for osteoarthritis (OA), the most frequent bone and joint disease. Thought to be caused by the degeneration and destruction of articular cartilage following persistent and excessive mechanical stimulation of the joints, OA can significantly impair patient quality of life with symptoms such as knee pain, lower limb muscle weakness, or difficulty walking. Because articular cartilage has a low self-repair ability and an extremely low proliferative capacity, healing of damaged articular cartilage has not been achieved to date. The current pharmaceutical treatment of OA is limited to the slight alleviation of symptoms (e.g., local injection of hyaluronic acid or non-steroidal anti-inflammatory drugs); hence, the development of effective drugs and regenerative therapies for OA is highly desirable. This review article summarizes findings indicating that proteoglycan 4 (Prg4)/lubricin, which is specifically expressed in the superficial zone of articular cartilage and synovium, functions in a protective manner against OA, and covers the transcriptional regulation of Prg4 in articular chondrocytes. We also focused on growth differentiation factor 5 (Gdf5), which is specifically expressed on the surface layer of articular cartilage, particularly in the developmental stage, describing its regulatory mechanisms and functions in joint formation and OA pathogenesis. Because several genetic studies in humans and mice indicate the involvement of these genes in the maintenance of articular cartilage homeostasis and the presentation of OA, molecular targeting of Prg4 and Gdf5 is expected to provide new insights into the aetiology, pathogenesis, and potential treatment of OA.

65 years old man of chronic inflammatory demyelinating polyneuritis (CIDP) which presented radicular swelling and was able to confirm image progress before the onset

The case is a 65 years old man. He noticed muscle weakness of lower limbs from 3 years ago. Dysesthesia was developed, He came in our hospital in X year. He was detected muscle weakness, sensory disturbance in distal lower limbs predominance and detected radicular significant swelling in spinal cord MRI and diagnosed it with chronic inflammatory demyelinating polyneuritis (CIDP). In the follow-up purpose of other diseases regularly, it was confirmed that nerve root was gradually swelling from around 7 years before the onset. The radicular swelling is one of the characteristics in CIDP, supports the diagnosis. This case was the valuable case that was able to chase image progress before the onset.

A Case of Lumbar Disc Herniation Penetrating the Ventral and Dorsal Dura Mater with Notable Osteophytes

Introduction : The most common symptoms of lumbar disc herniation are low back and lower limb pain, but emergency surgery is generally only required in cases with severe lower limb muscle weakness and bladder and rectal disorder. A herniated disc that penetrates the dura mater can trigger an intradural herniation (IDH). Although there are no specific symptoms of IDH, it often causes acute and severe neuropathy. Here, we report a case with residual postoperative dysuria due to IDH.

The role of classical risk factors for knee osteoarthritis in unilateral transtibial amputation

The study aimed to review the literature on the classical risk factors for knee osteoarthritis and their possible role in the development of this pathology in patients with unilateral transtibial amputation in terms of potential rehabilitation prospects. A search of publications was carried out using PubMed databases of the US National Center for Biotechnology Information and the website of the Elsevier publishing house. Well-established increased risk factors for knee osteoarthritis are old age, female gender, lower limb muscle weakness, low or excessive physical activity, overweight, a history of knee joint injury or surgery, chronic knee pain. These factors are common for disabled persons with unilateral transtibial amputation, which, combined with specific mechanical factors, makes these persons more vulnerable to the development and progression of osteoarthritis. Programs aimed at eliminating modifiable risk factors for the development of knee osteoarthritis can contribute to the preservation of knee joint function in the long term and improve the quality of life of persons with unilateral transtibial amputation. This requires the well-coordinated efforts of a multidisciplinary team, as well as the participation of the disabled persons themselves. Identification and management of the potentially modifiable classical risk factors for the development of knee osteoarthritis are one of the promising pathways of rehabilitation of persons with unilateral transtibial amputation.